| 1. |
- Faerch, Mia, et al.
(författare)
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Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus
- 2010
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Ingår i: Scandinavian Journal of Urology and Nephrology. - : Taylor & Francis. - 0036-5599 .- 1651-2065. ; 44:5, s. 324-330
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To establish the clinical phenotype and genetic background in a family with diabetes insipidus.MATERIAL AND METHODS: The subjects were a sister and brother, aged 34 and 27 years, respectively, with a history of polyuria since infancy. Clinical testing confirmed a diagnosis of congenital nephrogenic diabetes insipidus (CNDI) in both. Samples of purified genomic DNA were analysed.RESULTS: The sequence of the entire coding region of the AQP2 gene as well as the AVPR2 gene was determined. Sequence analysis revealed no variations in the AQP2 gene. A missense variation in exon 2 of the AVPR2 gene (g.685G>A), predicting a p.Asp85Asn substitution, was identified in the X-chromosome of the affected male and one allele in the sister and the asymptomatic mother. The p.Asp85Asn variation in AVPR2 is known to cause CNDI, and has previously been described as inducing a partial phenotype treatable with dDAVP. However, in this family dDAVP had no influence on urine osmolality, whereas combination therapy with indomethacin and hydrochlorothiazide increased urine osmolality to 299 mosm/l in the proband. A skewed X-inactivation pattern (93%) occurring in the normal X allele was recognized in the sister.CONCLUSIONS: This study demonstrates the effect of skewed X-chromosome inactivation associated with X-linked CNDI. Polydipsia in early childhood could be due to X-linked CNDI despite affecting both genders. The significant heterogeneity in the clinical phenotype in CNDI carries a risk of diagnostic misinterpretation and emphasizes the need for genetic characterization. Treatment combining indomethacin and hydrochlorothiazide results in a marked response on both urine output and urine osmolality.
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| 2. |
- Hansen, Louise, et al.
(författare)
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Intake of dietary fiber, especially from cereal foods, is associated with lower incidence of colon cancer in the HELGA cohort
- 2012
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Ingår i: International Journal of Cancer. - Geneve : International union against cancer. - 0020-7136 .- 1097-0215. ; 131:2, s. 469-478
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Tidskriftsartikel (refereegranskat)abstract
- The role of dietary fiber on the risk of colon and rectal cancer has been investigated in numerous studies, but findings have been inconsistent. The purpose of this study was to examine associations between intake of dietary fiber and risk of incident colon (including distal and proximal colon) and rectal cancer in the prospective Scandinavian HELGA cohort and to determine if fiber source (vegetables, fruits, potatoes, cereals) impacted the association. We included 1,168 incident cases (691 colon, 477 rectal cancer), diagnosed during a median of 11.3 years, among 108,081 cohort members. Sex-specific incidence rate ratios (IRRs) of colon and rectal cancer were related to intake of total or specific fiber source using Cox proportional hazards models. For men, an inverse association was observed between intake of total fiber and the risk of colon cancer per an incremental increase of 10 g day(-1) , IRR (95% CI): 0.74 (0.64-0.86). Intake of cereal fiber per 2 g day(-1) was associated with an IRR of 0.94 (0.91-0.98), which was also seen for intake of cereal fiber from foods with high fiber content (≥5 g per 100 g product), where the IRR per 2 g day(-1) was 0.94 (0.90-0.98). In women, intake of cereal fiber per 2 g day(-1) was also associated with lower risk of colon cancer, 0.97 (0.93-1.00). No clear associations were seen for rectal cancer. Our data indicate a protective role of total and cereal fiber intake, particularly from cereal foods with high fiber content, in the prevention of colon cancer.
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| 3. |
- Hansson, Helena, et al.
(författare)
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Hospital-based home care for children with cancer: Feasibility and psychosocial impact on children and their families
- 2013
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Ingår i: Pediatric Blood & Cancer. - : Wiley. - 1545-5017 .- 1545-5009. ; 60:5, s. 865-872
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Tidskriftsartikel (refereegranskat)abstract
- Background To assess the feasibility and psychosocial impact of a hospital-based home care (HBHC) program for children with cancer. Procedure A HBHC program was carried out with 51 children (018 years) with cancer to assess its feasibility in terms of satisfaction, care preferences, safety, and cost. A controlled trial was conducted to assess children's health-related quality of life (HRQOL) using the parent-reported and self-reported PedsQL Generic Core Scale and PedsQL Cancer Module, and the psychosocial impact on the family by PedsQL Family Impact Module comprising a subsample of 28 children and 43 parents in the home care group, and 47 children and 66 parents receiving standard hospital care. Results All parents in the HBHC program were satisfied and preferred home care. There were no serious adverse events associated with HBHC, and costs did not increase. When adjusting for age, gender, diagnosis and time since diagnosis, we found significant higher HRQOL scores in parent-reported physical health (P=0.04; 95% confidence interval (CI): 0.219.5) and worry (P=0.04; 95% CI: 0.420.6) in the home-care group indicating better physical health and less worry for children in the home-care group. No significant difference was found in the Family Impact Module. Conclusion This study indicates that HBHC is a feasible alternative to hospital care for children with cancer, and is greatly preferred by parents. Specific aspects of children's HRQOL may be improved with HBHC and the psychosocial burden on the family does not increase. Pediatr Blood Cancer 2013; 60: 865872. (c) 2013 Wiley Periodicals, Inc.
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| 4. |
- Jendle, Johan, 1963-, et al.
(författare)
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Late-onset familial neurohypophyseal diabetes insipidus due to a novel mutation in the AVP gene
- 2012
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Ingår i: Clinical Endocrinology. - Hoboken, USA : Wiley-Blackwell. - 0300-0664 .- 1365-2265. ; 77:4, s. 586-592
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Familial neurohypophyseal diabetes insipidus (FNDI) is mainly an autosomal dominant inherited disorder presenting with severe polydipsia and polyuria in early childhood. In this study, we aimed to determine the molecular genetics and clinical characteristics of a large Swedish-Norwegian family presenting with very late-onset autosomal dominant FNDI.Patients: Six probands with a history of developing polyuria and polydipsia during adolescence were studied.Measurements: Information on family demography was collected by personal interview with family members. The genetic cause of FNDI was identified by DNA sequencing analysis of the coding regions of the AVP gene. The clinical characteristics were determined by the measurement of basal urine production and osmolality as well as by measurements of concurrent levels of plasma AVP, plasma osmolality, and urine osmolality during fluid deprivation and bolus injection of DDAVP. The integrity of the neurohypophysis was evaluated by magnetic resonance imaging.Results: The mean age of encountering the first clinical symptoms in the family was 14·8 years (range 3-30 years) (n = 17). All six affected subjects investigated were heterozygous for a novel mutation in the AVP gene (g.1848C>T) predicting a p.Pro84Leu substitution in the AVP precursor protein. We found partial deficiency in evoked AVP secretion during fluid deprivation in one subject and complete deficiency in another. The pituitary bright spot was absent in all six affected subjects studied.Conclusion: A novel mutation in the AVP gene predicted to cause a neurophysin II dimerization defect is causing surprisingly late onset of FNDI in a large, six generation, Swedish-Norwegian family. The mutation is associated with both complete and partial deficiency in evoked AVP secretion during fluid deprivation in patients who have suffered from FNDI for decades.
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| 5. |
- Kyro, Cecilie, et al.
(författare)
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Intake of whole grain in Scandinavia : Intake, sources and compliance with new national recommendations
- 2012
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Ingår i: Scandinavian Journal of Public Health. - : Sage Publications. - 1403-4948 .- 1651-1905. ; 40:1, s. 76-84
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Tidskriftsartikel (refereegranskat)abstract
- Aims: The aim of the present study was to describe the intake of whole grain (WG) in Norway, Sweden and Denmark, and to investigate what proportion of the study population that met the new WG recommendation (75 g WG/day per 10 MJ). Methods: Descriptive study. Data is from one 24h dietary recall (24HDR) collected in 1995-2000 from a subset (n = 8,702) of the large Scandinavian cohort "HELGA" consisting of participants aged 30-65 years from three cohorts. Results: The mean WG intake was far below the recommended level. Between 16% (Danish men) and 35% (Norwegian women) consumed at least the recommended intake of WG. Among women, the median intake of WG products (g WG products/day) was 114 g/day in Norway and 108 g/day in Denmark, whereas the intake was much lower in Sweden (64 g/day). For women, the median intake of WG in absolute amounts (g WG/day) was again highest in Norway (44 g/day), but lower in both Sweden (35 g/day) and Denmark (31 g/day). For men (no data available for Norwegian men), the intake of WG products was higher in Denmark (138 g/day) compared to Sweden (79 g/day), but when looking at the WG intake in absolute amounts, the intake was highest in Sweden (49 g/day) compared to Denmark (41 g/day). Conclusions: The present study described the intake of WG as well as the sources of WG in Norway, Sweden and Denmark. Between 16% and 35% met the new recommendations on intake of WG.
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| 6. |
- Kyrø, Cecilie, et al.
(författare)
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Intake of whole grains from different cereal and food sources and incidence of colorectal cancer in the Scandinavian HELGA cohort
- 2013
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Ingår i: Cancer Causes and Control. - : Springer Science and Business Media LLC. - 0957-5243 .- 1573-7225. ; 24:7, s. 1363-1374
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Tidskriftsartikel (refereegranskat)abstract
- A high intake of whole grains has been associated with a lower incidence of colorectal cancer, but few studies are available on the association with whole grains from different cereals, for example, wheat, rye and oats, and none has addressed these separately. The objective of this study was to investigate the association between whole-grain intake and colorectal cancer. We used data from the large population-based Scandinavian cohort HELGA consisting of 108,000 Danish, Swedish, and Norwegian persons, of whom 1,123 developed colorectal cancer during a median of 11 years of follow-up. Detailed information on daily intake of whole-grain products, including whole-grain bread, crispbread, and breakfast cereals, was available, and intakes of total whole grains and specific whole-grain species (wheat, rye, and oats) were estimated. Associations between these whole-grain variables and the incidence of colorectal cancer were investigated using Cox proportional hazards models. Intake of whole-grain products was associated with a lower incidence of colorectal cancer per 50-g increment (incidence rate ratio [IRR], 0.94; 95 % confidence interval [CI], 0.89, 0.99), and the same tendency was found for total whole-grain intake (IRR pr. 25-g increment, 0.94; 95 % CI, 0.88, 1.01). Intake of whole-grain wheat was associated with a lower incidence of colorectal cancer (IRR for highest versus lowest quartile of intake, 0.66; 95 % CI, 0.51, 0.85), but no statistical significant linear trend was observed (p for trend: 0.18). No significant association was found for whole-grain rye or oats. Whole-grain intake was associated with a lower incidence of colorectal cancer.
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| 7. |
- Kyrø, Cecilie, et al.
(författare)
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Intake of whole grains in Scandinavia is associated with healthy lifestyle, socio-economic and dietary factors
- 2011
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Ingår i: Public Health Nutrition. - London : CAB International. - 1368-9800 .- 1475-2727. ; 14:10, s. 1787-1795
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To identify the dietary, lifestyle and socio-economic factors associated with the intake of whole grains (WG) in Norway, Sweden and Denmark.Design: A cross-sectional study.Setting: Subsample of the Scandinavian cohort ‘HELGA’ consisting of three prospective cohorts: The Norwegian Women and Cancer Study; The Northern Sweden Health and Disease Study; and the Danish Diet, Cancer and Health Study.Subjects: A total of 8702 men and women aged 30–65 years. Dietary data are from one 24 h dietary recall and data on socio-economic status and lifestyle factors including anthropometric values are from the baseline collection of data.Results: Vegetables, fruits, dairy products, fish and shellfish, coffee, tea and margarine were directly associated with the intake of WG, whereas red meat, white bread, alcohol and cakes and biscuits were inversely associated. Smoking and BMI were consistently inversely associated with the intake of WG. Furthermore, length of education was directly associated with the intake of WG among women.Conclusions: The intake of WG was found to be directly associated with healthy diet, lifestyle and socio-economic factors and inversely associated with less healthy factors, suggesting that these factors are important for consideration as potential confounders when studying WG intake and disease associations.
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| 8. |
- Kyrø, Cecilie, et al.
(författare)
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Plasma alkylresorcinol concentrations, biomarkers of whole-grain wheat and rye intake, in the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort
- 2014
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Ingår i: British Journal of Nutrition. - : Cambridge University Press. - 0007-1145 .- 1475-2662. ; 111:10, s. 1881-1890
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Tidskriftsartikel (refereegranskat)abstract
- Whole-grain intake has been reported to be associated with a lower risk of several lifestyle-related diseases such as type 2 diabetes, CVD and some types of cancers. As measurement errors in self-reported whole-grain intake assessments can be substantial, dietary biomarkers are relevant to be used as complementary tools for dietary intake assessment. Alkylresorcinols (AR) are phenolic lipids found almost exclusively in whole-grain wheat and rye products among the commonly consumed foods and are considered as valid biomarkers of the intake of these products. In the present study, we analysed the plasma concentrations of five AR homologues in 2845 participants from ten European countries from a nested case-control study in the European Prospective Investigation into Cancer and Nutrition. High concentrations of plasma total AR were found in participants from Scandinavia and Central Europe and lower concentrations in those from the Mediterranean countries. The geometric mean plasma total AR concentrations were between 35 and 41nmol/l in samples drawn from fasting participants in the Central European and Scandinavian countries and below 23nmol/l in those of participants from the Mediterranean countries. The whole-grain source (wheat or rye) could be determined using the ratio of two of the homologues. The main source was wheat in Greece, Italy, the Netherlands and the UK, whereas rye was also consumed in considerable amounts in Germany, Denmark and Sweden. The present study demonstrates a considerable variation in the plasma concentrations of total AR and concentrations of AR homologues across ten European countries, reflecting both quantitative and qualitative differences in the intake of whole-grain wheat and rye.
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| 9. |
- Kyrø, Cecilie, et al.
(författare)
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Plasma Alkylresorcinols, Biomarkers of Whole-Grain Wheat and Rye Intake, and Incidence of Colorectal Cancer
- 2014
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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press. - 0027-8874 .- 1460-2105. ; 106:1, s. djt352-
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Tidskriftsartikel (refereegranskat)abstract
- Background Few studies have investigated the association between whole-grain intake and colorectal cancer. Because whole-grain intake estimation might be prone to measurement errors, more objective measures (eg, biomarkers) could assist in investigating such associations. Methods The association between alkylresorcinols, biomarkers of whole-grain rye and wheat intake, and colorectal cancer incidence were investigated using prediagnostic plasma samples from colorectal cancer case patients and matched control subjects nested within the European Prospective Investigation into Cancer and Nutrition. We included 1372 incident colorectal cancer case patients and 1372 individual matched control subjects and calculated the incidence rate ratios (IRRs) for overall and anatomical subsites of colorectal cancer using conditional logistic regression adjusted for potential confounders. Regional differences (Scandinavia, the Mediterranean, Central Europe) were also explored. Results High plasma total alkylresorcinol concentration was associated with lower incidence of distal colon cancer; the adjusted incidence rate ratio of distal colon cancer for the highest vs lowest quartile of plasma total alkylresorcinols was 0.48 (95% confidence interval [CI] = 0.28 to 0.83). An inverse association between plasma total alkylresorcinol concentrations and colon cancer was found for Scandinavian participants (IRR per doubling = 0.83; 95% CI = 0.70 to 0.98). However, plasma total alkylresorcinol concentrations were not associated with overall colorectal cancer, proximal colon cancer, or rectal cancer. Plasma alkylresorcinols concentrations were associated with colon and distal colon cancer only in Central Europe and Scandinavia (ie, areas where alkylresorcinol levels were higher). Conclusions High concentrations of plasma alkylresorcinols were associated with a lower incidence of distal colon cancer but not with overall colorectal cancer, proximal colon cancer, and rectal cancer.
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| 10. |
- Larsen, Signe Benzon, et al.
(författare)
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Baseline prostate-specific antigen measurements and subsequent prostate cancer risk in the Danish Diet, Cancer and Health cohort
- 2013
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Ingår i: European Journal of Cancer. - : Elsevier BV. - 1879-0852 .- 0959-8049. ; 49:14, s. 3041-3048
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Tidskriftsartikel (refereegranskat)abstract
- Aim: Although prostate-specific antigen (PSA) screening reduces mortality from prostate cancer, substantial over-diagnosis and subsequent overtreatment are concerns. Early screening of men for PSA may serve to stratify the male population by risk of future clinical prostate cancer. Methods and material: Case-control study nested within the Danish 'Diet, Cancer and Health' cohort of 27,179 men aged 50-64 at enrolment. PSA measured in serum collected at cohort entry in 1993-1997 was used to evaluate prostate cancer risk diagnosed up to 14 years after. We identified 911 prostate cancer cases in the Danish Cancer Registry through 31st December 2007 1:1 age-matched with cancer-free controls. Aggressive cancer was defined as >= T3 or Gleason score >= 7 or N1 or M1. Statistical analyses were based on conditional logistic regression with age as underlying time axis. Results: Total PSA and free-to-total PSA ratio at baseline were strongly associated with prostate cancer risk up to 14 years later. PSA was grouped in quintiles and free-to-total PSA ratio divided in three risk groups. The incidence rate ratio for prostate cancer was 150 (95% confidence interval, 72-310) among men with a total PSA in the highest quintile (>5.1 ng/ml) compared to the lowest (<0.80 ng/ml). The risk of aggressive cancer was highly elevated in men with a PSA level in the highest quintile. The results indicate that one-time measurement of PSA could be used in an individualised screening strategy, sparing a large proportion of men from further PSA-based screening. (C) 2013 Elsevier Ltd. All rights reserved.
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