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Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.

https://arctichealth.org/en/permalink/ahliterature181962
Source
Blood. 2004 May 15;103(10):3924-32
Publication Type
Article
Date
May-15-2004
Author
Victor R Gordeuk
Adelina I Sergueeva
Galina Y Miasnikova
Daniel Okhotin
Yaroslav Voloshin
Peter L Choyke
John A Butman
Katerina Jedlickova
Josef T Prchal
Lydia A Polyakova
Author Affiliation
Center for Sickle Cell Disease, Department of Medicine, Howard University, Washington, DC 20059, USA. vgordeuk@howard.edu
Source
Blood. 2004 May 15;103(10):3924-32
Date
May-15-2004
Language
English
Publication Type
Article
Keywords
Adaptation, Physiological - genetics
Adolescent
Adult
Anoxia - congenital - genetics
Child
Cross-Sectional Studies
Female
Homozygote
Humans
Hypoxia-Inducible Factor 1, alpha Subunit
Male
Mutation
Neoplasms - genetics
Polycythemia - complications - epidemiology - genetics - mortality
Retrospective Studies
Russia - epidemiology
Survival Rate
Syndrome
Thrombosis - etiology - genetics
Transcription Factors - blood
Tumor Suppressor Proteins - genetics
Ubiquitin-Protein Ligases - genetics
Vascular Diseases - etiology - genetics
Vascular Endothelial Growth Factor A - blood
Von Hippel-Lindau Tumor Suppressor Protein
Abstract
Adaptation to hypoxia is critical for survival and regulates multiple processes, including erythropoiesis and vasculogenesis. Chuvash polycythemia is a hypoxia-sensing disorder characterized by homozygous mutation (598C>T) of von Hippel-Lindau gene (VHL), a negative regulator of hypoxia sensing. Although endemic to the Chuvash population of Russia, this mutation occurs worldwide and originates from a single ancient event. That VHL 598C>T homozygosity causes elevated normoxic levels of the transcription factor hypoxia inducible factor-1alpha (HIF-1alpha), serum erythropoietin and hemoglobin is known, but the disease phenotype has not been documented in a controlled manner. In this matched cohort study, VHL 598C>T homozygosity was associated with vertebral hemangiomas, varicose veins, lower blood pressures, and elevated serum vascular endothelial growth factor (VEGF) concentrations (P T homozygotes than in controls, erythropoietin response to hypoxia was identical. Thus, Chuvash polycythemia is a distinct VHL syndrome manifested by thrombosis, vascular abnormalities, and intact hypoxic regulation despite increased basal expression of hypoxia-regulated genes.
PubMed ID
14726398 View in PubMed
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The effect of an exercise program in pregnancy on vitamin D status among healthy, pregnant Norwegian women: a randomized controlled trial.

https://arctichealth.org/en/permalink/ahliterature301109
Source
BMC Pregnancy Childbirth. 2019 Feb 20; 19(1):76
Publication Type
Journal Article
Randomized Controlled Trial
Date
Feb-20-2019
Author
Miriam K Gustafsson
Pål R Romundstad
Signe Nilssen Stafne
Anne-Sofie Helvik
Astrid Kamilla Stunes
Siv Mørkved
Kjell Åsmund Salvesen
Per Medbøe Thorsby
Mats Peder Mosti
Unni Syversen
Author Affiliation
Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology (NTNU), PO Box 8905, 7491, Trondheim, Norway. miriam.gustafsson@ntnu.no.
Source
BMC Pregnancy Childbirth. 2019 Feb 20; 19(1):76
Date
Feb-20-2019
Language
English
Publication Type
Journal Article
Randomized Controlled Trial
Keywords
Adult
Calcium - blood
DNA-Binding Proteins - blood
Exercise - physiology
Exercise Therapy - methods
Female
Healthy Volunteers
Humans
Magnesium
Norway
Nutritional Status
Parathyroid Hormone - blood
Phosphates - blood
Pregnancy
Pregnancy Complications - etiology
Prenatal Care - methods
Transcription Factors - blood
Vitamin D - analogs & derivatives - blood
Vitamin D Deficiency - etiology
Abstract
Vitamin D insufficiency is common in pregnant women worldwide. Regular prenatal exercise is considered beneficial for maternal and fetal health. There is a knowledge gap regarding the impact of prenatal exercise on maternal vitamin D levels. The objective of this study was to investigate whether a prenatal exercise program influenced serum levels of total, free and bioavailable 25-hydroxyvitamin D (25(OH)D) and related parameters. This is a post hoc analysis of a randomized controlled trial with gestational diabetes as the primary outcome.
Healthy, pregnant women from two Norwegian cities (Trondheim and Stavanger) were randomly assigned to a 12-week moderate-intensity exercise program (Borg perceived rating scale 13-14) or standard prenatal care. The intervention group (n?=?429) underwent exercise at least three times weekly; one supervised group training and two home based sessions. The controls (n?=?426) received standard prenatal care, and exercising was not denied. Training diaries and group training was used to promote compliance and evaluate adherence. Serum levels of 25(OH)D, parathyroid hormone, calcium, phosphate, magnesium and vitamin D-binding protein were measured before (18-22?weeks' gestation) and after the intervention (32-36?weeks' gestation). Free and bioavailable 25(OH)D concentrations were calculated. Regression analysis of covariance (ANCOVA) was applied to assess the effect of the training regime on each substance with pre-intervention levels as covariates. In a second model, we also adjusted for study site and sampling month. Intention-to-treat principle was used.
A total of 724 women completed the study. No between-group difference in serum 25(OH)D and related parameters was identified by ANCOVA using baseline serum levels as covariates. The second model revealed a between-group difference in levels of 25(OH)D (1.9, 95% CI 0.0 to 3.8?nmol/L; p?=?0.048), free 25(OH)D (0.55, 95% CI 0.10 to 0.99?pmol/L; p?=?0.017) and bioavailable 25(OH)D (0.15 95% CI 0.01 to 0.29?nmol/L; p?=?0.036). No serious adverse events related to regular exercise were seen.
This study, a post hoc analysis, indicates that exercise may affect vitamin D status positively, and emphasizes that women with uncomplicated pregnancies should be encouraged to perform regular exercise.
ClinicalTrials.gov: NCT00476567 , registered May 22, 2007.
PubMed ID
30786861 View in PubMed
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Interleukin-10-secreting T cells define a suppressive subset within the HIV-1-specific T-cell population.

https://arctichealth.org/en/permalink/ahliterature89267
Source
Eur J Immunol. 2009 May;39(5):1280-7
Publication Type
Article
Date
May-2009
Author
Torheim Eirik A
Ndhlovu Lishomwa C
Pettersen Frank O
Larsen Trine-Lise
Jha Aashish R
Torgersen Knut M
Kvale Dag
Nixon Douglas F
Taskén Kjetil
Aandahl Einar M
Author Affiliation
The Biotechnology Centre of Oslo and Centre for Molecular Medicine Norway, Nordic EMBL Partnership, University of Oslo, Oslo, Norway.
Source
Eur J Immunol. 2009 May;39(5):1280-7
Date
May-2009
Language
English
Publication Type
Article
Keywords
Cell Proliferation
Flow Cytometry
Forkhead Transcription Factors - blood - immunology
HIV Infections - blood - immunology
HIV-1 - immunology
Humans
Immunomagnetic Separation
Interferon-gamma - blood - immunology
Interleukin-10 - blood - immunology
Leukocytes, Mononuclear - immunology
Statistics, nonparametric
T-Lymphocyte Subsets - cytology - immunology
T-Lymphocytes, Regulatory - cytology - immunology
Abstract
Recent studies have indicated that Treg contribute to the HIV type 1 (HIV-1)-related immune pathogenesis. However, it is not clear whether T cells with suppressive properties reside within the HIV-1-specific T-cell population. Here, PBMC from HIV-1-infected individuals were stimulated with a 15-mer Gag peptide pool, and HIV-1-specific T cells were enriched by virtue of their secretion of IL-10 or IFN-gamma using immunomagnetic cell-sorting. Neither the IL-10-secreting cells nor the IFN-gamma-secreting cells expressed the Treg marker FOXP3, yet the IL-10-secreting cells potently suppressed anti-CD3/CD28-induced CD4(+) as well as CD8(+) T-cell proliferative responses. As shown by intracellular cytokine staining, IL-10- and IFN-gamma-producing T cells represent distinct subsets of the HIV-1-specific T cells. Our data collectively suggest that functionally defined HIV-1-specific T-cell subsets harbor potent immunoregulatory properties that may contribute to HIV-1-associated T-cell dysfunction.
PubMed ID
19384871 View in PubMed
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KLF6 IVS1 -27G>A variant and the risk of prostate cancer in Finland.

https://arctichealth.org/en/permalink/ahliterature166371
Source
Eur Urol. 2007 Oct;52(4):1076-81
Publication Type
Article
Date
Oct-2007
Author
Eija H Seppälä
Ville Autio
Priya Duggal
Tarja Ikonen
Ulf-Håkan Stenman
Anssi Auvinen
Joan E Bailey-Wilson
Teuvo L J Tammela
Johanna Schleutker
Author Affiliation
Laboratory of Cancer Genetics, Institute of Medical Technology, University of Tampere and Tampere University Hospital, University of Tampere, Finland.
Source
Eur Urol. 2007 Oct;52(4):1076-81
Date
Oct-2007
Language
English
Publication Type
Article
Keywords
Adenine
Finland - epidemiology
Genetic Variation
Genotype
Germ-Line Mutation
Guanine
Humans
Kruppel-Like Transcription Factors - blood - genetics
Male
Polymorphism, Single Nucleotide
Prostatic Hyperplasia - epidemiology - genetics
Prostatic Neoplasms - epidemiology - genetics
Proto-Oncogene Proteins - blood - genetics
Risk factors
Tumor Suppressor Proteins - genetics
Abstract
A recent report demonstrated that KLF6 IVS1 -27G>A substitution increases the transcription of alternatively spliced isoforms; this action was suggested to be associated with prostate cancer (pCA). To evaluate these findings among the Finnish population, a total of 3348 samples were analysed.
The variant was genotyped in 164 patients with familial pCA, 852 patients with unselected pCA, 459 patients with benign prostate hyperplasia (BPH), 923 male population controls, and 950 men from a Finnish prostate-specific antigen (PSA) screening trial with PSA levels less than 1.0ng/ml. Odds ratios (ORs) and corresponding 95% confidence intervals (95%CIs) were calculated by using logistic regression to estimate pCA risk.
Association testing revealed no significant differences between familial prostate cancer patients and population controls (OR: 0.84; 95%CI, 0.56-1.28; p=0.42), unselected cases and controls (OR: 0.95; 95%CI, 0.76-1.19; p=0.63), or BPH cases and controls (OR: 1.12; 95%CI, 0.86-1.46; p=0.39). pCA and BPH cases were also compared with PSA-screened controls. None of these analyses revealed any significant associations.
Our results do not support the suggested association of KLF6 IVS1 -27G>A germline polymorphism with pCA risk and also suggest that the variant is not a risk allele for BPH in the Finnish population.
PubMed ID
17125911 View in PubMed
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No association between vitamin D and ß-cell autoimmunity in Finnish and Estonian children.

https://arctichealth.org/en/permalink/ahliterature264721
Source
Diabetes Metab Res Rev. 2014 Nov;30(8):749-60
Publication Type
Article
Date
Nov-2014
Author
L. Reinert-Hartwall
J. Honkanen
T. Härkönen
J. Ilonen
O. Simell
A. Peet
V. Tillmann
C. Lamberg-Allardt
S M Virtanen
M. Knip
O. Vaarala
Source
Diabetes Metab Res Rev. 2014 Nov;30(8):749-60
Date
Nov-2014
Language
English
Publication Type
Article
Keywords
25-Hydroxyvitamin D 2 - blood
25-Hydroxyvitamin D3 1-alpha-Hydroxylase - blood - genetics - metabolism
Autoimmunity
CD4-Positive T-Lymphocytes - immunology - metabolism
Calcifediol - blood
Child
Child Nutritional Physiological Phenomena
Child, Preschool
Diabetes Mellitus, Type 1 - blood - etiology - genetics - immunology
Estonia - epidemiology
Female
Finland - epidemiology
Forkhead Transcription Factors - blood - genetics - metabolism
Gene Expression Regulation, Developmental
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Incidence
Insulin-Secreting Cells - immunology
Male
Nutritional Status
Vitamin D Deficiency - physiopathology
Abstract
Vitamin D has immunomodulatory properties, such as regulation of FOXP3 expression and regulatory T-cell activity. Our aim was to investigate whether plasma 25-hydroxyvitamin D [25(OH)D] concentrations associate with the development of ß-cell autoimmunity and the transcriptional activity of FOXP3 or vitamin D3 convertase gene (CYP27B1) in CD4+ memory T cells.
We studied 83 Finnish and 32 Estonian children participating in the DIABIMMUNE and DIPP studies. Twenty-nine Finnish and six Estonian children tested positive for at least one diabetes-associated autoantibody. The plasma concentrations of 25(OH)D and 1,25(OH)2D were analysed with an enzyme immunoassay. Gene expression of FOXP3 and CYP27B1 in the isolated CD4+ memory T cells was studied with reverse transcription quantitative polymerase chain reaction.
Vitamin D status did not differ between subjects positive and negative for ß-cell autoantibodies. Finnish children had higher vitamin D status than Estonian children (p?
PubMed ID
24692218 View in PubMed
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A repeated cross-sectional survey of severe hypoglycaemia in 178 Type 1 diabetes mellitus patients performed in 1984 and 1998.

https://arctichealth.org/en/permalink/ahliterature185989
Source
Diabet Med. 2003 Mar;20(3):216-9
Publication Type
Article
Date
Mar-2003
Author
J. Bragd
U. Adamson
P-E Lins
R. Wredling
P. Oskarsson
Author Affiliation
Department of Medicine, Danderyd Hospital, Stockholm, Sweden. joakim.bragd@med.ds.sll.se
Source
Diabet Med. 2003 Mar;20(3):216-9
Date
Mar-2003
Language
English
Publication Type
Article
Keywords
Adult
Blood Glucose Self-Monitoring - methods
Cohort Studies
Cross-Sectional Studies
DNA-Binding Proteins - blood
Diabetes Mellitus, Type 1 - complications - epidemiology
Female
Follow-Up Studies
Hemoglobin A, Glycosylated - analysis
Humans
Hypoglycemia - blood - epidemiology - etiology
Male
Middle Aged
Nitric Oxide - analysis
Prevalence
Questionnaires
Sweden - epidemiology
Transcription Factors - blood
Abstract
To study the prevalence of severe hypoglycaemia (SH) in relation to risk factors in Type 1 diabetic (T1 DM) patients over a period of 14 years.
We performed a cross-sectional survey of a cohort of 178 T1 DM patients registered at our out-patient clinic in 1984 to be repeated in 1998. An identical questionnaire was sent to the patients in the beginning of 1985 and 1999, respectively, regarding the problem of SH in the preceding year. Additional clinical data were obtained from the patients' medical records on insulin treatment, long-term complications, morbidity, and co-medication.
At follow up, the use of multiple insulin injection therapy had increased from 71% to 98% (P 50% over 14 years. A multiple logistic regression analysis of risk factors for SH explained less than 10% of the variance, implicating only unawareness of hypoglycaemia and HbA1c.
Notes
Comment In: Diabet Med. 2004 Feb;21(2):19414984457
PubMed ID
12675666 View in PubMed
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6 records – page 1 of 1.