On the origin of trisomy 21 Down syndrome

Background: Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability. It is well known that the extra chromosome 21 most often originates from the mother, the incidence increases with maternal age, there may be aberrant maternal chromosome 21 recombination and there is a higher recurrence in young women. In spite of intensive efforts to understand the underlying reason(s) for these characteristics, the origin still remains unknown. We hypothesize that maternal trisomy 21 ovarian mosaicism might provide the major causative factor. Results: We used fluorescence in situ hybridization (FISH) with two chromosome 21-specific probes to determine the copy number of chromosome 21 in ovarian cells from eight female foetuses at gestational age 14–22 weeks. All eight phenotypically normal female foetuses were found to be mosaics, containing ovarian cells with an extra chromosome 21. Trisomy 21 occurred with about the same frequency in cells that had entered meiosis as in pre-meiotic and ovarian mesenchymal stroma cells. Conclusion: We suggest that most normal female foetuses are trisomy 21 ovarian mosaics and the maternal age effect is caused by differential selection of these cells during foetal and postnatal development until ovulation. The exceptional occurrence of high-grade ovarian mosaicism may explain why some women have a child with Down syndrome already at young age as well as the associated increased incidence at subsequent conceptions. We also propose that our findings may explain the aberrant maternal recombination patterns previously found by family linkage analysis

Calprotectin levels in amniotic fluid in relation to intra-amniotic inflammation and infection in women with preterm labor with intact membranes: A retrospective cohort study

Objective: To evaluate the concentrations of calprotectin in amniotic fluid with respect to intra-amniotic inflammation and infection and to assess the presence or absence of bacteria in the amnio-chorionic niche with respect to presence or absence of intra-amniotic inflammation. Study design: Seventy-nine women with singleton pregnancies and preterm labor with intact membranes (PTL) were included in the study. Amniotic fluid was collected at the time of admission by amniocentesis and calprotectin levels were analyzed from frozen/thawed samples using ELISA. Interleukin (IL)-6 concentration was measured by point-of-care test. Samples from amniotic fluid and the amnio-chorionic niche (space between amniotic and chorionic membranes) were microbiologically analyzed. Microbial invasion of the amniotic cavity (MIAC) was diagnosed based on a positive PCR result for Ureaplasma species, Mycoplasma hominis, 16S rRNA or positive culture. Intra-amniotic inflammation (IAI) was defined as amniotic fluid point-of-care IL-6 concentration ≥ 745 pg/mL. The cohort of included women was divided into 4 subgroups based on the presence or absence of IAI/MIAC; i) intra-amniotic infection, ii) sterile IAI, iii) intra-amniotic colonization and iv) neither MIAC nor IAI. Results: Women with intra-amniotic infection had a significantly higher intra-amniotic calprotectin concentration (median; 101.6 \ub5g/mL) compared with women with sterile IAI (median; 9.2 \ub5g/mL), women with intra-amniotic colonization (median; 2.6 \ub5g/mL) and women with neither MIAC nor IAI (median 4.6 \ub5g/mL) (p = 0.001). Moreover, significantly higher amniotic fluid calprotectin concentration was seen in women who delivered within 7 days (p = 0.003). A significant negative correlation was found between amniotic fluid calprotectin and gestational age at delivery (rho = 0.32, p = 0.003). Relatively more bacteria in the amnio-chorionic niche were found in the sterile IAI group compared with the other groups. Conclusions: Calprotectin concentrations in amniotic fluid were significantly higher in the intra-amniotic infection group compared with the other groups. Moreover, the bacterial presence in the amnio-chorionic niche was higher in IAI group

Enhanced science-stakeholder communication to improve ecosystem model performances for climate change impact assessments

In recent years, climate impact assessments of relevance to the agricultural and forestry sectors have received considerable attention. Current ecosystem models commonly capture the effect of a warmer climate on biomass production, but they rarely sufficiently capture potential losses caused by pests, pathogens and extreme weather events. In addition, alternative management regimes may not be integrated in the models. A way to improve the quality of climate impact assessments is to increase the science-stakeholder collaboration, and in a two-way dialog link empirical experience and impact modelling with policy and strategies for sustainable management. In this paper we give a brief overview of different ecosystem modelling methods, discuss how to include ecological and management aspects, and highlight the importance of science-stakeholder communication. By this, we hope to stimulate a discussion among the science-stakeholder communities on how to quantify the potential for climate change adaptation by improving the realism in the models

Palvelusetelikokeilun arviointikehikko

Sosiaali- ja terveysministeriön käynnistämän palvelusetelikokeilun tavoitteena on löytää valinnanvapauden malli, joka on sekä taloudellisesti tarkoituksenmukainen että mahdollistaa asiakkaiden yhdenvertaisen hoitoon pääsyn. Lisäksi asiakkaiden osallistumisella palvelujen valintaan kannustetaan tuottajia kehittämään palvelujaan. Kokeiluun osallistuvat kunnat valittiin syksyllä 2016 ja kokeilut ovat käynnistyneet vuoden 2017 alussa. Palvelusetelikokeilu on osa hallituksen Palvelut asiakaslähtöiseksi –kärkihanketta. Palvelusetelikokeilun arviointityön tukemista varten Terveyden ja hyvinvoinnin laitos on laatinut arviointikehikon, joka nostaa esiin kokeilun onnistumisen ja kokeilun tuottaman tiedon hyödynnettävyyden kannalta keskeisiä kysymyksiä. Toimivan arviointikehikon rakentaminen liittyy läheisesti koko kokeiluasetelman luomiseen. Kehikon muodostamisessa on pyritty huomioimaan kokeilualueiden erityispiirteet ja mahdollisuudet kerätä ja raportoida arvioinnin kannalta keskeistä tietoa. Arvioinnin lähtökohtana on selvittää, toteutuvatko valinnanvapauden välttämättömät edellytykset: Ovatko asiakkaat tietoisia oikeudesta valita? Onko riittävästi vaihtoehtoisia palvelutuottajia? Onko asiakkailla saatavilla riittävästi vertailutietoa vaihtoehdoista? Seuraako raha sujuvasti asiakasta valitulle tuottajalle? Arviointityössä on tärkeää tarkastella myös mitkä ovat kokeilujen seurannaisvaikutukset järjestäjien, palvelutuotannon, talouden, henkilöstön ja asiakkaiden näkökulmast

The Effect of Schooling on Basic Cognition in Selected Nordic Countries

The present study investigated schooling effects on cognition. Cognitive data were collected as part of a research project (ProMeal) that investigated school meals and measured the intake of school lunch in relation to children’s health, cognitive function, and classroom learning in four Nordic countries, among children between 10–11 years of age. It was found that Finnish pupils attending 4th grade were not, on any measure, outperformed by Norwegian and Icelandic pupils attending 5th and Swedish pupils attending 4th grade on a task measuring working memory capacity, processing speed, inhibition, and in a subsample on response- and attention control. Moreover, boys were found to perform superior to girls on tasks measuring processing speed. However, girls were found to perform better on tasks related to attention and self-control. The results are discussed in relation to the reciprocal association between cognition and schooling and whether these results reflect quality differences between schools in the four Nordic countries; most notably in comparison to Finland.</p

Valinnanvapaus sosiaali- ja terveydenhuollossa - kriittiset askeleet toteuttamisessa

Perustuu VALVA- ja VALINT-hankkeisiin