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Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.

https://arctichealth.org/en/permalink/ahliterature261010
Source
JIMD Rep. 2015 Mar 13;
Publication Type
Article
Date
Mar-13-2015
Author
Lise Aksglaede
Mette Christensen
Jess H Olesen
Morten Duno
Rikke K J Olsen
Brage S Andresen
David M Hougaard
Allan M Lund
Source
JIMD Rep. 2015 Mar 13;
Date
Mar-13-2015
Language
English
Publication Type
Article
Abstract
A neonate with low blood free carnitine level on newborn tandem mass spectrometry screening was evaluated for possible carnitine transporter defect (CTD). The plasma concentration of free carnitine was marginally reduced, and the concentrations of acylcarnitines (including C6, C8, and C10:1) were normal on confirmatory tests. Organic acids in urine were normal. In addition, none of the frequent Faroese SLC22A5 mutations (p.N32S, c.825-52G>A) which are common in the Danish population were identified. Evaluation of the mother showed low-normal free carnitine, but highly elevated medium-chain acylcarnitines (C6, C8, and C10:1) consistent with medium-chain acyl-CoA dehydrogenase deficiency (MCADD). The diagnosis was confirmed by the finding of homozygous presence of the c.985A>G mutation in ACADM.
PubMed ID
25763512 View in PubMed
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Amniotic fluid chemokines and autism spectrum disorders: an exploratory study utilizing a Danish Historic Birth Cohort.

https://arctichealth.org/en/permalink/ahliterature131145
Source
Brain Behav Immun. 2012 Jan;26(1):170-6
Publication Type
Article
Date
Jan-2012
Author
Morsi W Abdallah
Nanna Larsen
Jakob Grove
Bent Nørgaard-Pedersen
Poul Thorsen
Erik L Mortensen
David M Hougaard
Author Affiliation
Department of Epidemiology, Aarhus University School of Public Health, Aarhus, Denmark. mab@soci.au.dk
Source
Brain Behav Immun. 2012 Jan;26(1):170-6
Date
Jan-2012
Language
English
Publication Type
Article
Keywords
Adult
Amniotic Fluid - metabolism
Case-Control Studies
Chemokine CCL2 - analysis - metabolism
Chemokine CCL3 - analysis - metabolism
Chemokine CCL5 - metabolism
Chemokines - metabolism
Child
Child Development Disorders, Pervasive - epidemiology - metabolism
Cohort Studies
Congenital Abnormalities - epidemiology
Denmark - epidemiology
Female
Gestational Age
Humans
International Classification of Diseases
Logistic Models
Maternal Age
Mental Disorders - epidemiology
Odds Ratio
Pregnancy
Abstract
Elevated levels of chemokines have been reported in plasma and brain tissue of individuals with Autism Spectrum Disorders (ASD). The aim of this study was to examine chemokine levels in amniotic fluid (AF) samples of individuals diagnosed with ASD and their controls.
A Danish Historic Birth Cohort (HBC) kept at Statens Serum Institute, Copenhagen was utilized. Using data from Danish nation-wide health registers, a case-control study design of 414 cases and 820 controls was adopted. Levels of MCP-1, MIP-1a and RANTES were analyzed using Luminex xMAP technology. Case-control differences were assessed as dichotomized at below the 10th percentile or above the 90th percentile cut-off points derived from the control biomarker distributions (logistic regression) or continuous measures (tobit regression).
AF volume for 331 cases and 698 controls was sufficient for Luminex analysis. Including all individuals in the cohort yielded no significant differences in chemokine levels in cases versus controls. Logistic regression analyses, performed on individuals diagnosed using ICD-10 only, showed increased risk for ASD with elevated MCP-1 (elevated 90th percentile adjusted OR: 2.32 [95% CI: 1.17-4.61]) compared to controls. An increased risk for infantile autism with elevated MCP-1 was also found (adjusted OR: 2.28 [95% CI: 1.16-4.48]). Elevated levels of MCP-1 may decipher an etiologic immunologic dysfunction or play rather an indirect role in the pathophysiology of ASD. Further studies to confirm its role and to identify the potential pathways through which MCP-1 may contribute to the development of ASD are necessary.
Notes
Comment In: Brain Behav Immun. 2012 Mar;26(3):39322001185
PubMed ID
21933705 View in PubMed
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Amniotic fluid inflammatory cytokines: potential markers of immunologic dysfunction in autism spectrum disorders.

https://arctichealth.org/en/permalink/ahliterature128706
Source
World J Biol Psychiatry. 2013 Sep;14(7):528-38
Publication Type
Article
Date
Sep-2013
Author
Morsi W Abdallah
Nanna Larsen
Jakob Grove
Bent Nørgaard-Pedersen
Poul Thorsen
Erik L Mortensen
David M Hougaard
Author Affiliation
Department of Epidemiology, Aarhus University Faculty of Health Sciences , Aarhus , Denmark.
Source
World J Biol Psychiatry. 2013 Sep;14(7):528-38
Date
Sep-2013
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
Amniotic Fluid - immunology - physiology
Biological Markers - metabolism
Case-Control Studies
Child Development Disorders, Pervasive - epidemiology - genetics - immunology
Cohort Studies
Compulsive Personality Disorder - epidemiology - immunology
Cytokines - adverse effects - physiology
Denmark
Female
Humans
Inflammation - immunology - metabolism - pathology
Inflammation Mediators - adverse effects - physiology
Pregnancy
Registries - statistics & numerical data
Abstract
The aim of the study was to analyze cytokine profiles in amniotic fluid (AF) samples of children developing autism spectrum disorders (ASD) and controls, adjusting for maternal autoimmune disorders and maternal infections during pregnancy.
AF samples of 331 ASD cases and 698 controls were analyzed for inflammatory cytokines using Luminex xMAP technology utilizing a historic birth cohort. Clinical data were retrieved from nationwide registers, and case-control differences in AF cytokine levels were assessed using chi-square tests, logistic and tobit regression models.
Overall, individuals with ASD had significantly elevated AF levels of TNF-a and TNF-ß compared to controls. Analyzing individuals diagnosed only with ICD-10 codes yielded significantly elevated levels of IL-4, IL-10, TNF-a and TNF-ß in ASD patients. Restricting analysis to infantile autism cases showed significantly elevated levels of IL-4, TNF-a and TNF-ß compared to controls with no psychiatric comorbidities. Elevated levels of IL-6 and IL-5 were found in individuals with other childhood psychiatric disorders (OCPD) when compared to controls with no psychiatric comorbidities.
AF samples of individuals with ASD or OCPD showed differential cytokine profiles compared to frequency-matched controls. Further studies to examine the specificity of the reported cytokine profiles in ASD and OCPD are required.
PubMed ID
22175527 View in PubMed
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Amniotic fluid MMP-9 and neurotrophins in autism spectrum disorders: an exploratory study.

https://arctichealth.org/en/permalink/ahliterature120408
Source
Autism Res. 2012 Dec;5(6):428-33
Publication Type
Article
Date
Dec-2012
Author
Morsi W Abdallah
Brad D Pearce
Nanna Larsen
Kirstin Greaves-Lord
Bent Nørgaard-Pedersen
David M Hougaard
Erik L Mortensen
Jakob Grove
Author Affiliation
Section for Epidemiology, Health, Aarhus University, Aarhus C, Denmark. morsi.abdallah@med.uni-rostock.de
Source
Autism Res. 2012 Dec;5(6):428-33
Date
Dec-2012
Language
English
Publication Type
Article
Keywords
Adult
Amniotic Fluid - metabolism
Brain-Derived Neurotrophic Factor - metabolism
Case-Control Studies
Child Development Disorders, Pervasive - metabolism
Cohort Studies
Denmark
Female
Humans
Infant, Newborn
Male
Matrix Metalloproteinase 9 - metabolism
Nerve Growth Factors - metabolism
Neuronal Plasticity
Odds Ratio
Pregnancy
Transforming Growth Factor beta - metabolism
Abstract
Evidence suggests that some developmental disorders, such as autism spectrum disorders (ASDs), are caused by errors in brain plasticity. Given the important role of matrix metalloproteinases (MMPs) and neurotrophins (NTs) in neuroplasticity, amniotic fluid samples for 331 ASD cases and 698 frequency-matched controls were analyzed for levels of MMP-9, brain-derived neurotrophic factor, NT-4 and transforming growth factor-ß utilizing a Danish historic birth cohort and Danish nationwide health registers. Laboratory measurements were performed using an in-house multiplex sandwich immunoassay Luminex xMAP method, and measurements were analyzed using tobit and logistic regression. Results showed elevated levels of MMP-9 in ASD cases compared with controls (crude and adjusted tobit regression P-values: 0.01 and 0.06). Our results highlight the importance of exploring the biologic impact of MMP-9 and potential therapeutic roles of its inhibitors in ASD and may indicate that neuroplastic impairments in ASD may present during pregnancy.
PubMed ID
23008271 View in PubMed
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Amniotic fluid phthalate levels and male fetal gonad function.

https://arctichealth.org/en/permalink/ahliterature264835
Source
Epidemiology. 2015 Jan;26(1):91-9
Publication Type
Article
Date
Jan-2015
Author
Morten Søndergaard Jensen
Ravinder Anand-Ivell
Bent Nørgaard-Pedersen
Bo A G Jönsson
Jens Peter Bonde
David M Hougaard
Arieh Cohen
Christian H Lindh
Richard Ivell
Gunnar Toft
Source
Epidemiology. 2015 Jan;26(1):91-9
Date
Jan-2015
Language
English
Publication Type
Article
Keywords
Adult
Amniotic Fluid - chemistry
Case-Control Studies
Cryptorchidism - epidemiology
Denmark - epidemiology
Diethylhexyl Phthalate - analysis
Environmental Exposure - statistics & numerical data
Female
Gonadal Steroid Hormones - analysis
Humans
Hydrocortisone - analysis
Hypospadias - epidemiology
Immunoassay
Infant, Newborn
Insulin - analysis
Leydig Cells
Linear Models
Logistic Models
Male
Mass Spectrometry
Phthalic Acids - analysis
Pregnancy
Proteins - analysis
Abstract
Prenatal exposure to phthalates may pose a threat to human male reproduction. However, additional knowledge about the in vivo effect in humans is needed, and reported associations with genital abnormalities are inconclusive. We aimed to study prenatal di(2-ethylhexyl) phthalate (DEHP) and diisononyl phthalate (DiNP) exposure in relation to cryptorchidism, hypospadias, and human fetal Leydig cell function.
We studied 270 cryptorchidism cases, 75 hypospadias cases, and 300 controls. Second-trimester amniotic fluid samples were available from a Danish pregnancy-screening biobank (n = 25,105) covering 1980-1996. We assayed metabolites of DEHP and DiNP (n = 645) and steroid hormones (n = 545) by mass spectrometry. We assayed insulin-like factor 3 by immunoassay (n = 475) and analyzed data using linear or logistic regression.
Mono(2-ethyl-5-carboxypentyl) phthalate (5cx-MEPP, DEHP metabolite) was not consistently associated with cryptorchidism or hypospadias. However, we observed an 18% higher (95% confidence interval [CI] = 5%-33%) testosterone level, and a 41% lower (-56% to -21%) insulin-like factor 3 level in the highest 5cx-MEPP tertile compared with the lowest. Mono(4-methyl-7-carboxyheptyl) phthalate (7cx-MMeHP, DiNP metabolite) showed elevated odds ratio point estimates for having cryptorchidism (odds ratio = 1.28 [95% CI = 0.80 to 2.01]) and hypospadias (1.69 [0.78 to 3.67]), but was not consistently associated with the steroid hormones or insulin-like factor 3.
Data on the DEHP metabolite indicate possible interference with human male fetal gonadal function. Considering the DiNP metabolite, we cannot exclude (nor statistically confirm) an association with hypospadias and, less strongly, with cryptorchidism.
PubMed ID
25384265 View in PubMed
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Association of the polygenic risk score for schizophrenia with mortality and suicidal behavior - A Danish population-based study.

https://arctichealth.org/en/permalink/ahliterature290891
Source
Schizophr Res. 2017 06; 184:122-127
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Date
06-2017
Author
Thomas M Laursen
Betina B Trabjerg
Ole Mors
Anders D Børglum
David M Hougaard
Manuel Mattheisen
Sandra M Meier
Enda M Byrne
Preben B Mortensen
Trine Munk-Olsen
Esben Agerbo
Author Affiliation
Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Denmark; National Centre for Register-Based Research, Aarhus University, Denmark; Mental Health in Primary Care (MEPRICA), Research Unit for General Practice, Department of Public Health, Aarhus University, Aarhus, Denmark. Electronic address: tml@econ.au.dk.
Source
Schizophr Res. 2017 06; 184:122-127
Date
06-2017
Language
English
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Keywords
Adolescent
Adult
Biological Specimen Banks
Case-Control Studies
Denmark - epidemiology
Female
Genetic Predisposition to Disease
Humans
Male
Mortality, Premature
Multifactorial Inheritance
Registries
Risk
Schizophrenia - genetics - mortality
Suicide, Attempted - statistics & numerical data
Young Adult
Abstract
It is unknown whether an increased genetic liability to schizophrenia influences the risk of dying early. The aim of the study was to determine whether the genetic predisposition to schizophrenia is associated with the risk of dying early and experience a suicide attempt.
Case control study, Denmark. The main measure was the mortality rate ratios (MRR) for deaths and odds ratios (OR) for multiple suicide attempts, associated with one standard deviations increase of the polygenic risk-score for schizophrenia (PRS).
We replicated the high mortality MRR=9.01 (95% CI: 3.56-22.80), and high risk of multiple suicide attempts OR=33.16 (95% CI: 20.97-52.43) associated with schizophrenia compared to the general population. However, there was no effect of the PRS on mortality MRR=1.00 (95% CI 0.71-1.40) in the case-control setup or in cases only, MRR=1.05 (95% CI 0.73-1.51). Similar, no association between the PRS and multiple suicide attempts was found in the adjusted models, but in contrast, family history of mental disorders was associated with both outcomes.
A genetic predisposition for schizophrenia, measured by PRS, has little influence on the excess mortality or the risk of suicide attempts. In contrast there is a strong significant effect of family history of mental disorders. Our findings could reflect that the common variants detected by recent PRS only explain a small proportion of risk of schizophrenia, and that future, more powerful PRS instruments may be able to predict excess mortality within this disorder.
PubMed ID
27939829 View in PubMed
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Associations between vitamin D status and atherosclerosis among Inuit in Greenland.

https://arctichealth.org/en/permalink/ahliterature300399
Source
Atherosclerosis. 2018 01; 268:145-151
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Date
01-2018
Author
Camilla U Gjødesen
Marit E Jørgensen
Peter Bjerregaard
Inger K Dahl-Petersen
Christina V L Larsen
Martin Noël
Mads Melbye
Arieh S Cohen
Marika Lundqvist
David M Hougaard
Jørn W Helge
Nina O Nielsen
Author Affiliation
National Institute of Public Health, University of Southern Denmark, Copenhagen, Denmark. Electronic address: cugjoedesen@hotmail.com.
Source
Atherosclerosis. 2018 01; 268:145-151
Date
01-2018
Language
English
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Keywords
Adult
Asymptomatic Diseases
Biomarkers - blood
Calcifediol - blood
Carotid Artery Diseases - diagnostic imaging - ethnology
Carotid Intima-Media Thickness
Female
Greenland - epidemiology
Humans
Inuits
Male
Middle Aged
Prevalence
Prognosis
Risk assessment
Risk factors
Vitamin D Deficiency - blood - diagnosis - ethnology
Abstract
Low levels of vitamin D are suspected to be a risk factor for cardiovascular disease and atherosclerosis. The aim of this study was to assess the prevalence of subclinical atherosclerosis among Inuit in Greenland, and to evaluate the association with vitamin D status. We hypothesized that low vitamin D status could be associated with higher carotid intima-media thickness (IMT) as a marker of atherosclerosis.
756 adults from the Inuit Health in Transition (IHIT) study carried out in Greenland in the period 2005-2010 were included. A blood sample donated in 1987 was available for a sub-sample of 102 individuals. Serum 25(OH)D3 from the IHIT study and the 1987 survey was used as a measure of vitamin D status. IMT measurements were conducted by ultrasound scanning. The prevalence of atherosclerosis was estimated, and the association between serum 25(OH)D3 and IMT measurements was examined by linear regression.
The overall prevalence of subclinical atherosclerosis was 20.1% (n = 152). The linear regression analyses indicated a weak positive association between serum 25(OH)D3 level and IMT measurements from the IHIT study, though not statistically significant after adjustment for potential confounders (ß = 0.35% per 10 nmoL/L 25(OH)D3, p = 0.06). Linear regression analyses of the association between serum 25(OH)D3 level in the 1987 survey and IMT measurements also indicated a positive, though not statistically significant, association after adjustment (ß = 0.07% per 10 nmoL/L 25(OH)D3, p = 0.86).
Our findings did not support the hypothesis of an association between low vitamin D levels and risk of atherosclerosis.
PubMed ID
29227867 View in PubMed
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Associations between Vitamin D Status and Type 2 Diabetes Measures among Inuit in Greenland May Be Affected by Other Factors.

https://arctichealth.org/en/permalink/ahliterature271639
Source
PLoS One. 2016;11(4):e0152763
Publication Type
Article
Date
2016
Author
Nina O Nielsen
Peter Bjerregaard
Pernille F Rønn
Henrik Friis
Stig Andersen
Mads Melbye
Marika Lundqvist
Arieh S Cohen
David M Hougaard
Marit E Jørgensen
Source
PLoS One. 2016;11(4):e0152763
Date
2016
Language
English
Publication Type
Article
Abstract
Epidemiological studies have provided evidence of an association between vitamin D insufficiency and type 2 diabetes. Vitamin D levels have decreased among Inuit in Greenland, and type 2 diabetes is increasing. We hypothesized that the decline in vitamin D could have contributed to the increase in type 2 diabetes, and therefore investigated associations between serum 25(OH)D3 as a measure of vitamin D status and glucose homeostasis and glucose intolerance in an adult Inuit population.
2877 Inuit (=18 years) randomly selected for participation in the Inuit Health in Transition study were included. Fasting- and 2hour plasma glucose and insulin, C-peptide and HbA1c were measured, and associations with serum 25(OH)D3 were analysed using linear and logistic regression. A subsample of 330 individuals who also donated a blood sample in 1987, were furthermore included.
After adjustment, increasing serum 25(OH)D3 (per 10 nmol/L) was associated with higher fasting plasma glucose (0.02 mmol/L, p = 0.004), 2hour plasma glucose (0.05 nmol/L, p = 0.002) and HbA1c (0.39%, p
Notes
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PubMed ID
27073876 View in PubMed
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Autism spectrum disorders and maternal serum a-fetoprotein levels during pregnancy.

https://arctichealth.org/en/permalink/ahliterature128980
Source
Can J Psychiatry. 2011 Dec;56(12):727-34
Publication Type
Article
Date
Dec-2011
Author
Morsi W Abdallah
Jakob Grove
David M Hougaard
Bent Nørgaard-Pedersen
Fuad Ibrahimov
Erik L Mortensen
Author Affiliation
Department of Epidemiology, Aarhus University School of Public Health, Denmark. mab@soci.au.dk
Source
Can J Psychiatry. 2011 Dec;56(12):727-34
Date
Dec-2011
Language
English
Publication Type
Article
Keywords
Adult
Biological Markers - blood
Case-Control Studies
Child Development Disorders, Pervasive - blood - diagnosis - epidemiology
Cohort Studies
Denmark - epidemiology
Female
Humans
Infant, Newborn
Male
Mass Screening
Odds Ratio
Pregnancy
Pregnancy Complications - blood - diagnosis - epidemiology
Prenatal Diagnosis - methods
Registries
alpha-Fetoproteins - diagnostic use - metabolism
Abstract
Numerous studies have been trying to disentangle the complex pathophysiology of autism spectrum disorders (ASD). In our study, we explored the potential role of maternal serum (MS) alpha-fetoprotein (AFP) in the prediction and the pathophysiology of ASD.
A total of 112 patients with ASD and 243 control subjects were included in a case-control study, using a historic birth cohort maintained at Statens Serum Institute. Measurements of MS-AFP were obtained from a multicentre screening program, whereas clinical data were obtained from nationwide registers. Association between MS-AFP and ASD status was analyzed using logistic regression models and nonparametric tests.
Crude, but not adjusted, estimates showed that MS-AFP levels were slightly, but significantly, higher in mothers of children with ASD, compared with their control subject counterparts. People with ASD had an odds ratio of 2.33, with 95% confidence intervals of 1.00 to 5.39, to have MS-AFP above 2.5 multiple of median. Excluding subjects with congenital malformation comorbidities did not alter the direction of our estimates (OR 2.60; 95% CI 1.04 to 6.51, P = 0.04).
Biologic plausibility of its role in the pathophysiology of ASD makes AFP a good candidate for further larger-scale studies to confirm such an association and to determine whether this pattern is unique to ASD or related to other psychiatric disorders as well.
PubMed ID
22152641 View in PubMed
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CCND2, CTNNB1, DDX3X, GLI2, SMARCA4, MYC, MYCN, PTCH1, TP53, and MLL2 gene variants and risk of childhood medulloblastoma.

https://arctichealth.org/en/permalink/ahliterature274459
Source
J Neurooncol. 2015 Oct;125(1):75-8
Publication Type
Article
Date
Oct-2015
Author
Anna M Dahlin
Mads V Hollegaard
Carl Wibom
Ulrika Andersson
David M Hougaard
Isabelle Deltour
Ulf Hjalmars
Beatrice Melin
Source
J Neurooncol. 2015 Oct;125(1):75-8
Date
Oct-2015
Language
English
Publication Type
Article
Keywords
Adolescent
Brain Neoplasms - genetics
Child
Child, Preschool
Cyclin D2 - genetics
Denmark
Female
Genetic Association Studies
Genetic Predisposition to Disease - genetics
Humans
Kruppel-Like Transcription Factors - genetics
Male
Medulloblastoma - genetics
Nuclear Proteins - genetics
Polymorphism, Single Nucleotide - genetics
Receptors, Cell Surface - genetics
Retrospective Studies
Sweden
Young Adult
Abstract
Recent studies have described a number of genes that are frequently altered in medulloblastoma tumors and that have putative key roles in the development of the disease. We hypothesized that common germline genetic variations in these genes may be associated with medulloblastoma development. Based on recent publications, we selected 10 genes that were frequently altered in medulloblastoma: CCND2, CTNNB1, DDX3X, GLI2, SMARCA4, MYC, MYCN, PTCH1, TP53, and MLL2 (now renamed as KMT2D). Common genetic variants (single nucleotide polymorphisms) annotating these genes (n = 221) were genotyped in germline DNA (neonatal dried blood spot samples) from 243 childhood medulloblastoma cases and 247 control subjects from Sweden and Denmark. Eight genetic variants annotating three genes in the sonic hedgehog signaling pathway; CCND2, PTCH1, and GLI2, were found to be associated with the risk of medulloblastoma (P(combined)
Notes
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PubMed ID
26290144 View in PubMed
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40 records – page 1 of 4.