Search results for "perinnöllinen alttius"
showing 10 items of 10 documents
WNT2 activation through proximal germline deletion predisposes to small intestinal neuroendocrine tumors and intestinal adenocarcinomas
2021
Abstract Many hereditary cancer syndromes are associated with an increased risk of small and large intestinal adenocarcinomas. However, conditions bearing a high risk to both adenocarcinomas and neuroendocrine tumors are yet to be described. We studied a family with 16 individuals in four generations affected by a wide spectrum of intestinal tumors, including hyperplastic polyps, adenomas, small intestinal neuroendocrine tumors, and colorectal and small intestinal adenocarcinomas. To assess the genetic susceptibility and understand the novel phenotype, we utilized multiple molecular methods, including whole genome sequencing, RNA sequencing, single cell sequencing, RNA in situ hybridization…
Auditiivisen ja kielellisen harjoittelun vaikutus kolmannella luokalla olevien heikkojen lukijoiden lukutaitoon
2012
Varhaiset kielelliset taidot ja suvussa kulkeva lukivaikeus lukutaidon ennustamisessa : seurantatutkimus 2-vuotiaasta 15-vuotiaaksi
2020
Schizophrenia polygenic risk score and long-term success in the labour market: A cohort study
2022
Publisher Copyright: © 2022 The Authors Employment is rare among people with a schizophrenia diagnosis. Meanwhile, a genetic liability for schizophrenia may hinder labour market performance. We studied how the polygenic risk score (PGS) for schizophrenia related to education and labour market outcomes. We found that a higher PGS was linked to lower educational levels and weaker labour market outcomes as well as a higher likelihood of receiving social income transfers, particularly among men. Assuming that the link is causal, our results indicate that individuals with schizophrenia or schizophrenia-related traits have a weakened ability to fully participate in the labour market, potentially …
Brain responses to speech sounds in infants and children with and without familial risk for dyslexia
2015
Dyslexia, a specific reading disability, runs in families. Therefore, the risk for a child to become dyslexic increases multifold if reading difficulties occur in the family. One risk factor for dyslexia is a deficit in speech perception. Using EEG, speech sound discrimination was found to be more demanding than non- speech discrimination in typical readers in Study I. In Study II, in children with dyslexia in 3rd grade, enhanced brain responses were observed and found to be associated with better performance in reading accuracy, spelling accuracy and phonemic length discrimination tasks. The brain responses of the most accurate readers in the dyslexia group originated from a more posterior…
Evolution of hermaphroditic mating systems in animals
2004
Miksi jotkin eläinlajit ovat kaksineuvoisia ja toisissa lajeissa koiras- ja naarasominaisuudet ovat eri yksilöissä? Kaksineuvoiset eläimet pystyvät lisääntymään itsesiitoksella ilman kumppania tai ristisiitoksella kumppanin kanssa. Kumpi lisääntymistapa on parempi? Muun muassa näitä kysymyksiä väitöskirjassaan pohtinut Mikael Puurtinen loi tutkimuksessaan teoriaa lisääntymistapojen evoluutiosta, sekä selvitti vedessä elävän isolimakotilon (Lymnaea stagnalis) lisääntymisbiologiaa. Suomen Akatemian nimittämässä evoluutioekologian huippuyksikössä tehty tutkimus toi arvokasta tietoa populaation geneettisen monimuotoisuuden vaikutuksista populaation elinkykyyn sekä kykyyn vastustaa loistauteja. …
Kouluiän lukutaito lapsilla, joilla on suvussa kulkeva lukivaikeusriski – ennustajat, kehitys ja lopputulema
2017
Lectio praecursoria Suomalaisnuorten lukutaidon taso ja siinä tapahtuneet muutokset ovat saaneet viime vuosina kiitettävästi julkisuutta. Erityisesti kansainvälisen OECD-järjestön eri maiden kansallisten koulutusjärjestelmien vertailuun suunniteltu PISA-tutkimus on ollut paljon otsikoissa. Peruskoulunsa päättävien viisitoistavuotiaitten suomalais-nuorten vuodesta 2006 alkanut laskeva trendi oppimistuloksissa on ymmärrettävästi herättänyt laajasti huolta. Pudotukset pistemäärissä ovat olleet noin 20 pisteen luokkaa kymmenen viime vuoden aikana.Pistemäärien heikkenemisestä huolimatta suomalaisnuoret saivat viimeisimmässä, vuoden 2015 PISA-lukutaitoarvioinnissa keskimäärin 526 pistettä ja maan…
Rats with elevated genetic risk for metabolic syndrome exhibit cognitive deficiencies when young
2021
Metabolic syndrome (MetS) is a known risk factor for cognitive decline. Using polygenic rat models selectively bred for high and low intrinsic exercise capacity and simultaneously modelling as low and high innate risk factor for MetS respectively, we have previously shown that adult animals with lower exercise capacity/higher MetS risk perform poorly in tasks requiring flexible cognition. However, it is not known whether these deficits in cognition are present already at young age. Also, it is unclear whether the high risk genome is related also to lower-level cognition, such as sensory gating measured as prepulse inhibition. In this study, young and adult (5-8 weeks and ∼9 months) rats sel…
Rats bred for low intrinsic aerobic exercise capacity link obesity with brain inflammation and reduced structural plasticity of the hippocampus.
2021
Abstract BACKGROUND Increasing evidence shows obesity and poor metabolic health are associated with cognitive deficits, but the mechanistic connections have yet to be resolved. We studied rats selectively bred for low and high intrinsic aerobic capacity in order to test the association between low physical fitness, a genetic predisposition for obesity, and brain health. We hypothesized that low-capacity runner (LCR) rats with concurrently greater levels of adiposity would have increased hippocampal inflammation and reduced plasticity compared to the more physically fit high-capacity runner (HCR) rats. METHODS We examined markers for inflammation and brain plasticity in the hippocampi of LCR…
Polygenic Risk Scores and Physical Activity
2020
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