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- Cucchiara, F, et al.
(författare)
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Electrophysiological features of sleep in children with Kir4.1 channel mutations and Autism-Epilepsy phenotype: a preliminary study
- 2020
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Ingår i: Sleep. - : Oxford University Press (OUP). - 1550-9109 .- 0161-8105. ; 43:4
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Tidskriftsartikel (refereegranskat)abstract
- Study ObjectivesRecently, a role for gain-of-function (GoF) mutations of the astrocytic potassium channel Kir4.1 (KCNJ10 gene) has been proposed in subjects with Autism–Epilepsy phenotype (AEP). Epilepsy and autism spectrum disorder (ASD) are common and complexly related to sleep disorders. We tested whether well characterized mutations in KCNJ10 could result in specific sleep electrophysiological features, paving the way to the discovery of a potentially relevant biomarker for Kir4.1-related disorders.MethodsFor this case–control study, we recruited seven children with ASD either comorbid or not with epilepsy and/or EEG paroxysmal abnormalities (AEP) carrying GoF mutations of KCNJ10 and seven children with similar phenotypes but wild-type for the same gene, comparing period-amplitude features of slow waves detected by fronto-central bipolar EEG derivations (F3-C3, F4-C4, and Fz-Cz) during daytime naps.ResultsChildren with Kir4.1 mutations displayed longer slow waves periods than controls, in Fz-Cz (mean period = 112,617 ms ± SE = 0.465 in mutated versus mean period = 105,249 ms ± SE = 0.375 in controls, p < 0.001). An analog result was found in F3-C3 (mean period = 125,706 ms ± SE = 0.397 in mutated versus mean period = 120,872 ms ± SE = 0.472 in controls, p < 0.001) and F4-C4 (mean period = 127,914 ms ± SE = 0.557 in mutated versus mean period = 118,174 ms ± SE = 0.442 in controls, p < 0.001).ConclusionThis preliminary finding suggests that period-amplitude slow wave features are modified in subjects carrying Kir4.1 GoF mutations. Potential clinical applications of this finding are discussed.
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- Acevedo, N, et al.
(författare)
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Histone Acetylation of Immune Regulatory Genes in Human Placenta in Association with Maternal Intake of Olive Oil and Fish Consumption
- 2019
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Ingår i: International journal of molecular sciences. - : MDPI AG. - 1422-0067. ; 20:5
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Tidskriftsartikel (refereegranskat)abstract
- Maternal diet modifies epigenetic programming in offspring, a potentially critical factor in the immune dysregulation of modern societies. We previously found that prenatal fish oil supplementation affects neonatal T-cell histone acetylation of genes implicated in adaptive immunity including PRKCZ, IL13, and TBX21. In this study, we measured H3 and H4 histone acetylation levels by chromatin immunoprecipitation in 173 term placentas collected in the prospective birth cohort, ALADDIN, in which information on lifestyle and diet is thoroughly recorded. In anthroposophic families, regular olive oil usage during pregnancy was associated with increased H3 acetylation at FOXP3 (p = 0.004), IL10RA (p = 0.008), and IL7R (p = 0.007) promoters, which remained significant after adjustment by offspring gender. Furthermore, maternal fish consumption was associated with increased H4 acetylation at the CD14 gene in placentas of female offspring (p = 0.009). In conclusion, prenatal olive oil intake can affect placental histone acetylation in immune regulatory genes, confirming previously observed pro-acetylation effects of olive oil polyphenols. The association with fish consumption may implicate ω-3 polyunsaturated fatty acids present in fish oil. Altered histone acetylation in placentas from mothers who regularly include fish or olive oil in their diets could influence immune priming in the newborn.
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- Frumento, P, et al.
(författare)
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Parametric modelling of M-quantile regression coefficient functions with application to small area estimation
- 2019
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Ingår i: JOURNAL OF THE ROYAL STATISTICAL SOCIETY SERIES A-STATISTICS IN SOCIETY. - : Oxford University Press (OUP). - 0964-1998 .- 1467-985X.
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Small area estimation methods can be used to obtain reliable estimates of a parameter of interest within an unplanned domain or subgroup of the population for which only a limited sample size is available. A standard approach to small area estimation is to use a linear mixed model in which the heterogeneity between areas is accounted for by area level effects. An alternative solution, which has gained popularity in recent years, is to use M-quantile regression models. This approach requires much weaker assumptions than the standard linear mixed model and enables computing outlier robust estimators of the area means. We introduce a new framework for M-quantile regression, in which the model coefficients, β(τ), are described by (flexible) parametric functions of τ. We illustrate the advantages of this approach and its application to small area estimation. Using the European Union Survey on Income and Living Conditions data, we estimate the average equivalized household income in three Italian regions. The paper is accompanied by an R package Mqrcm that implements the necessary procedures for estimation, inference and prediction.
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- Harb, H, et al.
(författare)
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Epigenetic Modifications in Placenta are Associated with the Child's Sensitization to Allergens
- 2019
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Ingår i: BioMed research international. - : Hindawi Limited. - 2314-6141 .- 2314-6133. ; 2019, s. 1315257-
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Tidskriftsartikel (refereegranskat)abstract
- Prenatal environmental exposures are considered to contribute to the development of allergic sensitization by epigenetic mechanisms. The role of histone acetylation in the placenta has not been examined yet. We hypothesized that placental histone acetylation at the promoter regions of allergy-related immune regulatory genes is associated with the development of sensitization to allergens in the child. Histones H3 and H4 acetylation at the promoter regions of 6 selected allergy-related immune regulatory genes was assessed by a chromatin immunoprecipitation assay in 173 term placentas collected in the prospective birth-cohort ALADDIN. The development of IgE sensitization to allergens in the children was followed from 6 months up to 5 years of age. We discovered significant associations of histone acetylation levels with decreased risk of allergic sensitization in 3 genes. Decreased risk of sensitization to food allergens was associated with higher H3 acetylation levels in placentas at the IFNG and SH2B3 genes, and for H4 acetylation in HDAC4. Higher HDAC4 H4 acetylation levels were also associated with a decreased risk of sensitization to aeroallergens. In conclusion, our results suggest that acetylation of histones in placenta has a potential to predict the development of sensitization to allergens in children.
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- Laguzzi, F., et al.
(författare)
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Circulating fatty acids in relation to alcohol consumption : Cross-sectional results from a cohort of 60-year-old men and women
- 2018
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Ingår i: Clinical Nutrition. - : CHURCHILL LIVINGSTONE. - 0261-5614 .- 1532-1983. ; 37:6, Part A, s. 2001-2010
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Tidskriftsartikel (refereegranskat)abstract
- Background & aims: Alcohol consumption is considered to affect circulating fatty acids (FAs) but knowledge about specific associations is limited. We aimed to assess the relation between alcohol consumption and serum FAs in 60-year-old Swedish men and women.Methods: In a random sample of 1917 men and 2058 women residing in Stockholm county, cross-sectional associations between different categories of alcohol consumption and FAs were assessed using linear regression; beta(1) coefficients with 95% confidence interval (Cl) were calculated. Self-reported alcohol consumption was categorized as none, low (<= 9.9 g/day) (reference), moderate (10-29.9 g/day) and high (>= 30 g/day). Moderate alcohol consumption was further subdivided into consumption of beer, wine, liquor and their combinations. Thirteen serum cholesterol ester FM were measured by gas chromatography and individual FM were expressed as percentage of total FAs.Results: Increasing alcohol consumption was associated to linear increase of saturated myristic acid, monounsaturated FAs and n-6 polyunsaturated (PUFA) arachidonic acid, whereas linear decrease was noted for saturated pentadecanoic acid and for n-6 PUFA linoleic acid. With non-linear associations, increasing alcohol consumption also associated to decreased saturated stearic acid, n-6 PUFA dihomogamma-linolenic acid, and n-3 PUFA docosahexaenoic acid and increased saturated palmitic acid, n-6 PUFA gamma-linolenic acid and n-3 PUFA eicosapentaenoic acid. Among types of beverages, wine consumption was associated with n-6 PUFA arachidonic acid (beta(1) 0.59; 95% CI: 030;0.88) and the n-3 PUFAs eicosapentaenoic acid (beta(1) 0.54; 95% CI: 0.30;0.78), and docosahexaenoic acid (beta(1) 0.06; 95% CI: 0.00;0.12).Conclusions: These findings may give important basis for further investigations to better understand biological mechanisms behind the dose-dependent associations between alcohol consumption and health outcomes observed in many previous studies.
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- Pelassa, S, et al.
(författare)
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A2A-D2 Heteromers on Striatal Astrocytes: Biochemical and Biophysical Evidence
- 2019
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Ingår i: International journal of molecular sciences. - : MDPI AG. - 1422-0067. ; 20:10
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Tidskriftsartikel (refereegranskat)abstract
- Our previous findings indicate that A2A and D2 receptors are co-expressed on adult rat striatal astrocytes and on the astrocyte processes, and that A2A-D2 receptor–receptor interaction can control the release of glutamate from the processes. Functional evidence suggests that the receptor–receptor interaction was based on heteromerization of native A2A and D2 receptors at the plasma membrane of striatal astrocyte processes. We here provide biochemical and biophysical evidence confirming that receptor–receptor interaction between A2A and D2 receptors at the astrocyte plasma membrane is based on A2A-D2 heteromerization. To our knowledge, this is the first direct demonstration of the ability of native A2A and D2 receptors to heteromerize on glial cells. As striatal astrocytes are recognized to be involved in Parkinson’s pathophysiology, the findings that adenosine A2A and dopamine D2 receptors can form A2A-D2 heteromers on the astrocytes in the striatum (and that these heteromers can play roles in the control of the striatal glutamatergic transmission) may shed light on the molecular mechanisms involved in the pathogenesis of the disease.
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- Ropponen, A, et al.
(författare)
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Predicting the duration of sickness absence spells due to back pain: a population-based study from Sweden
- 2020
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Ingår i: Occupational and environmental medicine. - : BMJ. - 1470-7926 .- 1351-0711. ; 77:2, s. 115-121
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Tidskriftsartikel (refereegranskat)abstract
- We aimed to develop and validate a prediction model for the duration of sickness absence (SA) spells due to back pain (International Statistical Classification of Diseases and Related Health Problems 10th Revision: M54), using Swedish nationwide register microdata.MethodsInformation on all new SA spells >14 days from 1 January 2010 to 30 June 2012 and on possible predictors were obtained. The duration of SA was predicted by using piecewise constant hazard models. Nine predictors were selected for the final model based on a priori decision and log-likelihood loss. The final model was estimated in a random sample of 70% of the SA spells and later validated in the remaining 30%.ResultsOverall, 64 048 SA spells due to back pain were identified during the 2.5 years; 74% lasted ≤90 days, and 9% >365 days. The predictors included in the final model were age, sex, geographical region, employment status, multimorbidity, SA extent at the start of the spell, initiation of SA spell in primary healthcare and number of SA days and specialised outpatient healthcare visits from the preceding year. The overall c-statistic (0.547, 95% CI 0.542 to 0.552) suggested a low discriminatory capacity at the individual level. The c-statistic was 0.643 (95% CI 0.634 to 0.652) to predict >90 days spells, 0.686 (95% CI 0.676 to 0.697) to predict >180 spells and 0.753 (95% CI 0.740 to 0.766) to predict >365 days spells.ConclusionsThe model discriminates SA spells >365 days from shorter SA spells with good discriminatory accuracy.
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