Browsing by Subject "BIRTH"

Sort by: Order: Results:

Now showing items 1-20 of 44
  • Piippo, Sonja; Viljanen, Mirva; Savilahti, Erkki; Kuitunen, Mikael (2020)
    Background The association between atopic sensitisation, atopic eczema (AE) and asthma is known, but distinct roles of allergies on long-term health are unestablished. Objective Evaluation of allergic symptoms and sensitisation in adolescents who in infancy had AE and verified cows' milk allergy (CMA) or AE and a negative CMA challenge, and controls. Methods Children with AE, with and without CMA, from a randomised controlled study in 1999-2001 examining the effect of probiotics on AE severity at older than 12 months of age, attended a follow-up visit at age 16 to 18, with age-matched controls. Data came from a questionnaire (ISAAC questionnaire), analysis of serum antigen-specific immunoglobulin Es (IgEs), and clinical evaluation. Group comparisons were carried out (chi(2)tests and logistic regression). Results Fifty-two patients with AE and CMA (AE/CMA+ group), 52 with AE and suspicion of CMA (AE/CMA- group), and 57 controls attended a study visit. IgE-mediated sensitisation was significantly more prevalent in the AE/CMA+ group vs the controls, for horse, cat, dog, egg white and wheat (P <.024 for all). For birch, timothy and mugwort (P <.008 for all), sensitisation was more prevalent in both the AE/CMA+ group and the AE/CMA- group vs controls. On the basis of questionnaire data the AE/CMA + group reported a significantly higher lifetime prevalence of wheezing (64% vs 35% and 32%;P = .001), noninfectious rhinitis (85% vs 62% and 56%;P = .004), and hay fever (77% vs 52% and 33%;P <.001) vs the AE/CMA- group and the control group, respectively. Conclusion and Clinical Relevance Patients with AE and CMA in infancy, as opposed to patients with AE only, or controls, report more allergic symptoms and exhibit more allergic sensitisation in adolescence. This indicates that CMA in infancy is an independent risk factor of allergic disease in adolescence.
  • Toffol, Elena; But, Anna; Heikinheimo, Oskari; Latvala, Antti; Partonen, Timo; Haukka, Jari (2020)
    Objectives Sociodemographic and mental health characteristics are associated with contraceptive choices. We aimed to describe the sociodemographic, reproductive and mental health characteristics of all fertile-aged women in Finland who used hormonal contraception (HC) in 2017. Design A nationwide, register-based study. Setting All women living in Finland in 2017; data from the Care Register of Health Care, Medical Birth Register, Population Register Centre, Prescription Centre, Register of Induced Abortions. Participants All women aged 15-49 with one redeemed HC prescription in 2017 (n=294 356), and a same-sized, age-matched and residence-matched, control group of non-users. Outcomes Rates of HC use; associations between HC use and mental disorders, sociodemographic and reproductive characteristics. Results 25.8% of women aged 15-49 years used HC. Women with the lowest socioeconomic levels had lower odds of using HC than women with upper-level statuses (OR, 95% CI students: 0.97, 0.94 to 0.99; entitled to pension: 0.66, 0.63 to 0.69; other: 0.87, 0.85 to 0.89; unknown: 0.90, 0.85 to 0.90). Women with the highest education (secondary: 1.46, 1.43 to 1.48; tertiary: 1.64, 1.58 to 1.70; academic: 1.60, 1.56 to 1.63) and income (second quarter: 1.57, 1.54 to 1.60; third quarter: 1.85, 1.82 to 1.89; fourth quarter: 2.01, 1.97 to 2.06), and unmarried women had higher odds of using HC than women with the lowest education and income levels, and married (0.61, 0.60 to 0.62), divorced (0.86, 0.84 to 0.88), widowed (0.73, 0.65 to 0.83) or other marital status women (0.26, 0.22 to 0.30). Parous women (0.70, 0.69 to 0.71), those with previous induced abortion(s) (0.91, 0.89 to 0.92) or recent eating (0.68, 0.62 to 0.75) or personality (0.89, 0.79 to 0.97) disorders had lower odds of HC use. Absolute risk differences between women with and without mental disorders ranged from 3.1% (anxiety disorders) to 10.1% (eating disorders). Conclusions A quarter of the fertile-aged women use HC in Finland. Sociodemographic disparities persist in relation to HC use, although of small effect size. HC use is less common among women suffering from severe to moderate psychiatric disorders, especially eating disorders.
  • Jansson-Verkasalo, Eira; Ruusuvirta, Timo; Huotilainen, Minna; Alku, Paavo; Kushnerenko, Elena; Suominen, Kalervo; Rytky, Seppo; Luotonen, Mirja; Kaukola, Tuula; Tolonen, Uolevi; Hallman, Mikko (2010)
  • PIPARI Study Grp; Lind, Annika; Salomaki, Susanna; Parkkola, Riitta; Haataja, Leena; Rautava, Paivi; Junttila, Niina; Koikkalainen, Juha; Lötjönen, Jyrki; Saunavaara, Virva; Korja, Riikka (2020)
    Introduction The aim of the present study was to assess how regional brain volumes associate with self-experienced social and emotional loneliness and social competence in very preterm and term-born preadolescents. Materials and methods Thirty-four very preterm subjects (birthweight Results In the very preterm group, a number of significant associations were found between smaller regional brain volumes and self-experienced emotional loneliness, more impulsivity and more disruptiveness. In the control group, brain volumes and loneliness were not associated, and brain volumes and social competence were associated with a lesser degree than in the very preterm group. Conclusion Experiences of emotional loneliness and poorer social competence appear to be more related to brain volumes in very preterm preadolescents than in those born full-term. It also appears that in very preterm preadolescents, emotional loneliness may be more reflected in brain development than social loneliness.
  • Kaivola, Karri; Kiviharju, Anna; Jansson, Lilja; Rantalainen, Ville; Eriksson, Johan G.; Strandberg, Timo E.; Laaksovirta, Hannu; Renton, Alan E; Traynor, Bryan J.; Myllykangas, Liisa; Tienari, Pentti (2019)
    The hexanucleotide repeat expansion in C9orf72 is a common cause of amyotrophic lateral sclerosis/frontotemporal dementia and also rarely found in other psychiatric and neurodegenerative conditions. Alleles with >30 repeats are often considered an expansion, but the pathogenic repeat length threshold is still unclear. It is also unclear whether intermediate repeat length alleles (often defined either as 7-30 or 20-30 repeats) have clinically significant effects. We determined the C9orf72 repeat length distribution in 3142 older Finns (aged 60-104 years). The longest nonexpanded allele was 45 repeats. We found 7-45 repeats in 1036/3142 (33%) individuals, 20-45 repeats in 56/3142 (1.8%), 30-45 repeats in 12/3142 (0.38%), and expansion (>45 repeats) in 6/3142 (0.19%). There was no apparent clustering of neurodegenerative or psychiatric diseases in individuals with 30-45 repeats indicating that 30-45 repeats are not pathogenic. None of the 6 expansion carriers had a diagnosis of amyotrophic lateral sclerosis/frontotemporal dementia but 4 had a diagnosis of a neurodegenerative or psychiatric disease. Intermediate length alleles (categorized as 7-45 and 20-45 repeats) did not associate with Alzheimer's disease or cognitive impairment. (C) 2019 The Author(s). Published by Elsevier Inc.
  • Jacob, Louis; Weber, Katherina; Sechet, Ingeborg; Macharey, Georg; Kostev, Karel; Ziller, Volker (2016)
    To analyze the impact of caesarean section (CS) on fertility and time to pregnancy in German gynecological practices. Women initially diagnosed for the first time with a vaginal delivery (VD) or CS between 2000 and 2013 were identified by 227 gynecologists in the IMS Disease Analyzer database. They were included if they were aged between 16 and 40 years, and were not previously diagnosed with female sterility. The two main outcomes were the first-time diagnosis of female sterility and the time between the first delivery and the next pregnancy within 10 years. A multivariate Cox regression model was used to predict these outcomes on the basis of patient characteristics. 6483 patients were included in the CS group and 6483 in the VD group. Mean age was 30.6 years and the proportion of individuals with private health insurance amounted to 9.0 %. Within 10 years of the index date, 19.5 % of women who delivered by CS and 18.3 % of women who delivered vaginally were diagnosed with sterility (p value = 0.0148). CS and polycystic ovary syndrome significantly increased the risk of sterility. Within 10 years of the index date, 57.9 % of women who underwent a CS and 64.0 % of women who delivered vaginally were pregnant for the second time (p value <0.001). CS, polycystic ovary syndrome, and the deterioration of menstrual cycle significantly decreased the chance of becoming pregnant a second time. CS is associated with an increased risk of sterility and a decreased number of subsequent pregnancies in Germany.
  • Karvonen, Risto; Sipola, Marika; Kiviniemi, Antti; Tikanmäki, Marjaana; Järvelin, Marjo-Riitta; Eriksson, Johan G.; Tulppo, Mikko; Vääräsmäki, Marja; Kajantie, Eero (2019)
    Objective To evaluate cardiac autonomic function in adults born preterm. Study design We studied the association between prematurity and cardiac autonomic function using heart rate variability measurements in 600 adults (mean age of 23.3 years) from a geographically based cohort in Northern Finland. There were 117 young adults born early preterm (= 37 weeks, controls). Autonomic function was analyzed by calculating time and frequency domain heart rate variability measurements using linear regression. Results Compared with controls, the mean difference in root mean square of successive differences (indicating cardiac vagal activity) was -12.0% (95% CI -22.2%, -0.5%, adjusted for sex, age, source cohort, and season P = .04) for the early preterm group and -7.8% (-16.8%, 2.0%, P = .12) for the late preterm group. Mean differences with controls in low frequency power (indicating cardiac vagal activity, including some sympathetic- and baroreflex-mediated effects) were -13.6% (-26.7%, 1.8%, P = .08) for the early pretermgroup and -16.4% (-27.0%, -4.3%, P = .01) for the late preterm group. Mean differences in high frequency power (quantifying cardiac vagal modulation in respiratory frequency) were -19.2% (-36.6%, 2.9%, P = .09) for the early preterm group and -13.8% (-29.4%, 5.3%, P = .15) for the late preterm group. Differences were attenuated when controlled for body mass index and physical activity. Conclusions Our results suggest altered autonomic regulatory control in adults born preterm, including those born late preterm. Altered autonomic regulatory control may contribute to increased cardiovascular risk in adults born preterm.
  • Hakkarainen, Heidi; Huopio, Hanna; Cederberg, Henna; Voutilainen, Raimo; Heinonen, Seppo (2018)
    Aims: Was to determine whether the birth weight of the infant predicts prediabetes (impaired fasting glucose, impaired glucose tolerance, or both) and type 2 diabetes (T2DM) during long-term follow-up of women with or without gestational diabetes mellitus (GDM). Methods: The women with or without GDM during their pregnancies in Kuopio University Hospital in 1989-2009 (n=876) were contacted and invited for an evaluation. They were stratified into two groups according to the newborn's birth weight: 10-90th percentile (appropriate-for-gestational-age; AGA) (n = 662) and >90th percentile (large-for-gestational-age; LGA) (n = 116). Glucose tolerance was investigated with an oral glucose tolerance test after a mean follow-up time of 7.3 (SD 5.1) years. Results: The incidence of T2DM was 11.8% and 0% in the women with and without GDM, respectively, after an LGA delivery. The incidence of prediabetes increased with offspring birth weight categories in the women with and without GDM: from 46.3% and 26.2% (AGA) to 52.9% and 29.2% (LGA), respectively. Conclusions: GDM women with LGA infants are at an increased risk for subsequent development of T2DM and therefore represent a target group for intervention to delay or prevent T2DM development. In contrast, an LGA delivery without GDM does not increase T2DM risk. (C) 2018 Primary Care Diabetes Europe. Published by Elsevier Ltd. All rights reserved.
  • Quansah, Dan Yedu; Boateng, Daniel; Kwantwi, Louis Boafo; Owusu-Sekyere, Anthony; Amegah, A. Kofi (2019)
    Background: Apgar score is an established index of neonatal well-being and development. Nutrition during pregnancy is an accepted risk factor for neonatal low Apgar score. Objective: To investigate the association between dietary diversity score and low Apgar score. Methods: This was a hospital based cross-sectional study. The study participants were 420 mothers who delivered and were attending the postnatal clinic at the Cape Coast Metropolitan Hospital. Mothers' dietary information during pregnancy was assessed with a food frequency questionnaire. In reference to the FAOs women's Dietary Diversity Score (DDS), the subjects were categorized into low, medium or high DDS. The primary outcome was Apgar score. Apgar scores <5 were classified as low. Results: The mean age (+/- standard deviation, SD) of subjects was 26.7 +/- 5.7 years with a range of 17 to 45 years. The prevalence of low Apgar score among the study population was 16.9%. Majority of the study participants had a low DDS in relation to low Apgar score whereas 7.5% had high DDS. After adjusting for potential confounding factors, the odds of low Apgar score in the low DDS group was three times higher than those who had high DDS (Adjusted odds ratio, AOR= 3.10, 95% confidence interval, CI=1.23-4.48). Conclusion: Dietary diversity score during pregnancy was associated with a low Apgar score in the study area. The results of this study reinforce the significance of adequate nutrition during pregnancy in the study area.
  • Kallankari, Hanna; Saunavaara, Virva; Parkkola, Riitta; Haataja, Leena; Hallman, Mikko; Kaukola, Tuula (2021)
    Background Very preterm birth can disturb brain maturation and subject these high-risk children to neurocognitive difficulties later. Objective The aim of the study was to evaluate the impact of prematurity on microstructure of frontostriatal tracts in children with no severe neurologic impairment, and to study whether the diffusion tensor imaging metrics of frontostriatal tracts correlate to executive functioning. Materials and methods The prospective cohort study comprised 54 very preterm children (mean gestational age 28.8 weeks) and 20 age- and gender-matched term children. None of the children had severe neurologic impairment. The children underwent diffusion tensor imaging and neuropsychological assessments at a mean age of 9 years. We measured quantitative diffusion tensor imaging metrics of frontostriatal tracts using probabilistic tractography. We also administered five subtests from the Developmental Neuropsychological Assessment, Second Edition, to evaluate executive functioning. Results Very preterm children had significantly higher fractional anisotropy and axial diffusivity values (P
  • Korhonen, Laura; Seiskari, Tapio; Lehtonen, Jussi; Puustinen, Leena; Surcel, Heljä-Marja; Haapala, Anna-Maija; Niemelä, Onni; Virtanen, Suvi M.; Honkanen, Hanna; Karjalainen, Mira; Ilonen, Jorma; Veijola, Riitta; Knip, Mikael; Lönnrot, Maria; Hyöty, Heikki (2018)
    Background: Prenatal environment has been shown to influence child's risk of atopic diseases. Laboratory-confirmed data about the role of maternal infections during pregnancy is scarce. Objective: The aim of this study was to determine the associations between serologically confirmed maternal infections during pregnancy and atopic disease in the offspring. Methods: This was a nested case-control study within a prospective birth cohort study. Altogether 202 atopic case children and 333 matched non-atopic control children were included. Atopic outcome was defined as having an atopic disease and IgE sensitization by the age of 5 years. We analysed serologically acute enterovirus (EV), influenza virus A (IAV) and Mycoplasma pneumoniae (M. pneumoniae) infections during pregnancy, and mother's seropositivity against human cytomegalovirus (CMV) and Helicobacter pylori. Results: Maternal EV infection during pregnancy was inversely associated with atopic outcome in the offspring (odds ratio 0.43; 95% confidence interval: 0.23-0.80, P = 0.008). Acute IAV or M. pneumoniae infections or seropositivity against CMV or Helicobacter pylori were not associated with the atopic outcome. Conclusions and Clinical Relevance: Our results suggest that maternal EV infections during pregnancy are inversely associated with atopic disease in the offspring. Our finding provides further support to the previous studies suggesting an important role of the in utero environment in the development of atopic diseases.
  • O'Toole, J. M.; Boylan, G. B.; Vanhatalo, S.; Stevenson, N. J. (2016)
    Objective: To develop an automated estimate of EEG maturational age (EMA) for preterm neonates. Methods: The EMA estimator was based on the analysis of hourly epochs of EEG from 49 neonates with gestational age (GA) ranging from 23 to 32 weeks. Neonates had appropriate EEG for GA based on visual interpretation of the EEG. The EMA estimator used a linear combination (support vector regression) of a subset of 41 features based on amplitude, temporal and spatial characteristics of EEG segments. Estimator performance was measured with the mean square error (MSE), standard deviation of the estimate (SD) and the percentage error (SE) between the known GA and estimated EMA. Results: The EMA estimator provided an unbiased estimate of EMA with a MSE of 82 days (SD = 9.1 days; SE = 4.8%) which was significantly lower than a nominal reading (the mean GA in the dataset; MSE of 267 days, SD of 16.3 days, SE = 8.4%: p <0.001). The EMA estimator with the lowest MSE used amplitude, spatial and temporal EEG characteristics. Conclusions: The proposed automated EMA estimator provides an accurate estimate of EMA in early preterm neonates. Significance: Automated analysis of the EEG provides a widely accessible, noninvasive and continuous assessment of functional brain maturity. (C) 2016 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.
  • Yun, J.; Han, T.; Bjorkman, S.; Nysten, M.; Hasan, S.; Valros, A.; Oliviero, C.; Kim, Y.; Peltoniemi, O. (2019)
    The present study aimed to identify the factors that affect immediate (within 24 h after farrowing onset) postnatal piglet mortality in litters with hyperprolific sows, and investigate their associations with behaviour of postpartum sows in two different farrowing housing systems. A total of 30 sows were housed in: (1) CRATE (n=15): the farrowing crate closed (0.80x2.20 m) within a pen (2.50x1.70 m), and (2) OPEN (n=15): the farrowing crate open (0.80x2.20x1.80 m) within a pen (2.50x2.40 m) with a provision of 20 ls of hay in a rack. A total of 518 live born piglets, produced from the 30 sows, were used for data analyses during the first 24 h after the onset of parturition (T24). Behavioural observations of the sows were assessed via video analyses during T24. Total and crushed piglet mortality rates were higher in OPEN compared with CRATE (P
  • Schalekamp-Timmermans, Sarah; Arends, Lidia R.; Alsaker, Elin; Chappell, Lucy; Hansson, Stefan; Harsem, Nina K.; Jalmby, Maya; Jeyabalan, Arundhathi; Laivuori, Hannele; Lawlor, Debbie A.; Macdonald-Wallis, Corrie; Magnus, Per; Myers, Jenny; Olsen, Jorn; Poston, Lucilla; Redman, Christopher W.; Staff, Anne C.; Villa, Pia; Roberts, James M.; Steegers, Eric A.; Global Pregnancy Collaboration (Oxford University Press, 2017)
    Background: Pre-eclampsia (PE) is a major pregnancy disorder complicating up to 8% of pregnancies. Increasing evidence indicates a sex-specific interplay between the mother,placenta and fetus. This may lead to different adaptive mechanisms during pregnancy. Methods: We performed an individual participant data meta-analysis to determine associations of fetal sex and PE, with specific focus on gestational age at delivery in PE. This was done on 219 575 independent live-born singleton pregnancies, with a gestational age at birth between 22.0 and 43.0 weeks of gestation, from 11 studies participating in a worldwide consortium of international research groups focusing on pregnancy. Results: Of the women, 9033 (4.1%) experienced PE in their pregnancy and 48.8% of the fetuses were female versus 51.2% male. No differences in the female/male distribution were observed with respect to term PE (delivered >= 37 weeks). Preterm PE (delivered <37 weeks) was slightly more prevalent among pregnancies with a female fetus than in pregnancies with a male fetus [odds ratio (OR) 1.11, 95% confidence interval (CI) 1.02-1.21]. Very preterm PE (delivered <34 weeks) was even more prevalent among pregnancies with a female fetus as compared with pregnancies with a male fetus (OR 1.36, 95% CI 1.17-1.59). Conclusions: Sexual dimorphic differences in the occurrence of PE exist, with preterm PE being more prevalent among pregnancies with a female fetus as compared with pregnancies with a male fetus and with no differences with respect to term PE.
  • Schalekamp-Timmermans, Sarah; Arends, Lidia R.; Alsaker, Elin; Chappell, Lucy; Hansson, Stefan; Harsem, Nina K.; Jalmby, Maya; Jeyabalan, Arundhathi; Laivuori, Hannele; Lawlor, Debbie A.; Macdonald-Wallis, Corrie; Magnus, Per; Myers, Jenny; Olsen, Jorn; Poston, Lucilla; Redman, Christopher W.; Staff, Anne C.; Villa, Pia; Roberts, James M.; Steegers, Eric A.; Global Pregnancy Collaboration (2017)
    Background: Pre-eclampsia (PE) is a major pregnancy disorder complicating up to 8% of pregnancies. Increasing evidence indicates a sex-specific interplay between the mother,placenta and fetus. This may lead to different adaptive mechanisms during pregnancy. Methods: We performed an individual participant data meta-analysis to determine associations of fetal sex and PE, with specific focus on gestational age at delivery in PE. This was done on 219 575 independent live-born singleton pregnancies, with a gestational age at birth between 22.0 and 43.0 weeks of gestation, from 11 studies participating in a worldwide consortium of international research groups focusing on pregnancy. Results: Of the women, 9033 (4.1%) experienced PE in their pregnancy and 48.8% of the fetuses were female versus 51.2% male. No differences in the female/male distribution were observed with respect to term PE (delivered >= 37 weeks). Preterm PE (delivered <37 weeks) was slightly more prevalent among pregnancies with a female fetus than in pregnancies with a male fetus [odds ratio (OR) 1.11, 95% confidence interval (CI) 1.02-1.21]. Very preterm PE (delivered <34 weeks) was even more prevalent among pregnancies with a female fetus as compared with pregnancies with a male fetus (OR 1.36, 95% CI 1.17-1.59). Conclusions: Sexual dimorphic differences in the occurrence of PE exist, with preterm PE being more prevalent among pregnancies with a female fetus as compared with pregnancies with a male fetus and with no differences with respect to term PE.
  • Metsäniitty, Mari; Varkkola, Olli; Waltimo-Siren, Janna; Ranta, Helena (2017)
    In Finland, forensic age assessment is strictly regulated by legislation. According to the Aliens Act (301/2004) and the amendment of the Act (549/2010), the police authorities, the frontier guard authorities, and the immigration authorities have the right to refer asylum seekers to the University of Helsinki, Department of Forensic Medicine, for age assessment. These assessments are especially performed to solve if the person is of major age, the cutoff being 18 completed years. The forensic age assessment is largely based on dental development, since the special permit of the Radiation and Nuclear Safety Authority (STUK) to the Department of Forensic Medicine of the University of Helsinki, allowing the use of ionizing radiation for non-medical purposes, includes dental and hand X-rays. Forensic age assessment is always performed by two forensic odontologists. In 2015, the total number of forensic age assessment examinations was 149, and the countries of origin of the asylum seekers were most commonly Iraq, Afghanistan, and Somalia. The current legislation on forensic age assessment has been well received and approved. Radiological and other examinations can be performed in different parts of Finland, but the forensic odontologist at the University of Helsinki is always involved in the process and ensures joint quality standards for the forensic age assessment.
  • Stevenson, N. J.; Oberdorfer, L.; Koolen, N.; O'Toole, J. M.; Werther, T.; Klebermass-Schrehof, K.; Vanhatalo, S. (2017)
    Minimally invasive, automated cot-side tools for monitoring early neurological development can be used to guide individual treatment and benchmark novel interventional studies. We develop an automated estimate of the EEG maturational age (EMA) for application to serial recordings in preterm infants. The EMA estimate was based on a combination of 23 computational features estimated from both the full EEG recording and a period of low EEG activity (46 features in total). The combination function (support vector regression) was trained using 101 serial EEG recordings from 39 preterm infants with a gestational age less than 28 weeks and normal neurodevelopmental outcome at 12 months of age. EEG recordings were performed from 24 to 38 weeks post-menstrual age (PMA). The correlation between the EMA and the clinically determined PMA at the time of EEG recording was 0.936 (95% CI: 0.932-0.976; n = 39). All infants had an increase in EMA between the first and last EEG recording and 57/62 (92%) of repeated measures within an infant had an increasing EMA with PMA of EEG recording. The EMA is a surrogate measure of age that can accurately determine brain maturation in preterm infants.
  • Kaivola, Karri; Jansson, Lilja; Saarentaus, Elmo; Kiviharju, Anna; Rantalainen, Ville; Eriksson, Johan G.; Strandberg, Timo E.; Polvikoski, Tuomo; Myllykangas, Liisa; Tienari, Pentti J. (2018)
    Biallelic loss-of-function mutations in TYROBP and TREM2 cause a rare disease that resembles early-onset frontotemporal dementia with bone lesions called polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Some PLOSL-causing variants in TREM2 have also been associated with Alzheimer's disease when heterozygous. Here, we studied the PLOSLFIN TYROBP deletion that covers 4 of the gene's 5 exons. We genotyped 3220 older Finns (mean age 79, range 58-104) and found 11 deletion carriers (mean age 78, range 60-94). The carrier prevalence was 0.0034 (1 in 293) that matches previous findings in younger cohorts suggesting no significant early mortality. By comparing Mini-Mental State Examination (MMSE) scores and diagnoses of dementia, we did not find any significant differences between TYROBP deletion carriers and noncarriers (all p-values >0.5). Neuropathological analysis of 2 deletion carriers (aged 89 and 94 years) demonstrated only minimal beta amyloid pathology (Consortium to Establish a Registry for Alzheimer's Disease (CERAD) score 0). Collectively these results suggest that heterozygous carriership of the TYROBP deletion is not a major risk factor of cognitive impairment. (C) 2017 Elsevier Inc. All rights reserved.
  • Rosendahl, Jenni; Pelkonen, Anna S.; Helve, Otto; Hauta-alus, Helena; Holmlund-Suila, Elisa; Valkama, Saara; Enlund-Cerullo, Maria; Viljakainen, Heli; Hytinantti, Timo; Mäkitie, Outi; Andersson, Sture; Mäkelä, Mika J. (2019)
    Objective To investigate the effect of vitamin D supplementation dose on allergic sensitization and allergic diseases in infants, and to evaluate whether vitamin D status in pregnancy and at birth are associated with infant allergy outcomes. Study design Altogether, 975 infants participated in a randomized, controlled trial of daily vitamin D supplementation of 10 mu g (400 IU) or 30 mu g (1200 IU) from the age of 2 weeks. At 12 months of age, food and aeroallergen IgE antibodies were measured, and the occurrence of allergic diseases and wheezing were evaluated. Results We found no differences between the vitamin D supplementation groups in food (OR, 0.98; 95% CI, 0.66-1.46) or aeroallergen sensitization at 12 months (OR, 0.76; 95% CI,0.34-1.71). Allergic diseases or wheezing did not differ between groups, except for milk allergy which occurred more often in infants administered 30 mu g vitamin D compared with the 10 mu g dose (OR, 2.23; 95% CI, 1.00-4.96). Infants with high cord blood 25-hydroxyvitamin D (>= 100 nmol/L) had a higher risk of food allergen sensitization compared with those with lower 25(OH)D concentration (75-99.9 nmol/L; OR, 2.00; 95% CI, 1.19-3.39). Conclusions High-dose vitamin D supplementation did not prevent allergic sensitization, allergic diseases, or wheezing during the first year of life. In contrast, we observed an increased risk of milk allergy in infants randomized to higher vitamin D supplementation, and an increased risk of allergic sensitization in infants with high cord blood vitamin D status, indicating a possible adverse effect of high concentrations of vitamin D.
  • Kazmi, Nabila; Sharp, Gemma C.; Reese, Sarah E.; Vehmeijer, Florianne O.; Lahti, Jari; Page, Christian M.; Zhang, Weiming; Rifas-Shiman, Sheryl L.; Rezwan, Faisal I.; Simpkin, Andrew J.; Burrows, Kimberley; Richardson, Tom G.; Ferreira, Diana L. Santos; Fraser, Abigail; Harmon, Quaker E.; Zhao, Shanshan; Jaddoe, Vincent W. V.; Czamara, Darina; Binder, Elisabeth B.; Magnus, Maria C.; Haberg, Siri E.; Nystad, Wenche; Nohr, Ellen A.; Starling, Anne P.; Kechris, Katerina J.; Yang, Ivana V.; DeMeo, Dawn L.; Litonjua, Augusto A.; Baccarelli, Andrea; Oken, Emily; Holloway, John W.; Karmaus, Wilfried; Arshad, Syed H.; Dabelea, Dana; Sorensen, Thorkild I. A.; Laivuori, Hannele; Räikkönen, Katri; Felix, Janine F.; London, Stephanie J.; Hivert, Marie-France; Gaunt, Tom R.; Lawlor, Debbie A.; Relton, Caroline L. (2019)
    Hypertensive disorders of pregnancy (HDP) are associated with low birth weight, shorter gestational age, and increased risk of maternal and offspring cardiovascular diseases later in life. The mechanisms involved are poorly understood, but epigenetic regulation of gene expression may play a part. We performed meta-analyses in the Pregnancy and Childhood Epigenetics Consortium to test the association between either maternal HDP (10 cohorts; n=5242 [cases=476]) or preeclampsia (3 cohorts; n=2219 [cases=135]) and epigenome-wide DNA methylation in cord blood using the Illumina HumanMethylation450 BeadChip. In models adjusted for confounders, and with Bonferroni correction, HDP and preeclampsia were associated with DNA methylation at 43 and 26 CpG sites, respectively. HDP was associated with higher methylation at 27 (63%) of the 43 sites, and across all 43 sites, the mean absolute difference in methylation was between 0.6% and 2.6%. Epigenome-wide associations of HDP with offspring DNA methylation were modestly consistent with the equivalent epigenome-wide associations of preeclampsia with offspring DNA methylation (R-2=0.26). In longitudinal analyses conducted in 1 study (n=108 HDP cases; 550 controls), there were similar changes in DNA methylation in offspring of those with and without HDP up to adolescence. Pathway analysis suggested that genes located at/near HDP-associated sites may be involved in developmental, embryogenesis, or neurological pathways. HDP is associated with offspring DNA methylation with potential relevance to development.