Sivistys perusopetuksen opetussuunnitelman perusteissa:minkälaista sivistystä koulu tuottaa?

Tiivistelmä. Tutkielman tarkoitus on tarkastella sivistyskäsitettä perusopetuksen opetussuunnitelman perusteissa. Tutkielma pyrkii selvittämään, miten sivistys määritellään perusopetuksen opetussuunnitelmissa ja miten sivistykseen liittyvät pedagogiset tekijät otetaan huomioon. Tämän pohjalta on mahdollista rakentaa näkemys perusopetuksen ja sivistyksen yhteydestä. Näkemyksen avulla voidaan määritellä, minkälaista sivistystä koulu tuottaa. Lisäksi on aiheellista pohtia kysymyksenasettelua koulun sivistystehtävän toteutumisesta. Tutkielman ensimmäinen luku luo filosofisen viitekehyksen sivistykselle. Tässä yhteydessä käydään läpi sivistyksen perinnettä ja historiaa, sekä sivistysprosessiin liittyviä kokonaisuuksia. Esiin tulee myös erilaisia näkökulmia sivistyskäsitteen muotoutumiseen ja tulkintaan liittyen. Lisäksi luvussa esitellään sivistyksen ilmentymistä koulutuksen näkökulmasta. Ensisijaisia tarkastelun kohteita ovat koulutuksen ja sivistyksen linkittyminen sekä koulutuspoliittiset perspektiivit. Samalla havainnollistetaan sivistyksen kohtaamia haasteita ja käsitteelle esitettyä kritiikkiä. Seuraavassa luvussa käydään läpi perusopetuksen opetussuunnitelman perusteita, joita on ilmestynyt viisi kappaletta. Perusteista on poimittu keskeisimmät sivistykselliset teemat ja sivistyspyrkimyksiin liittyvät päämäärät. Perusteiden esittely tuo esiin perusopetuksen asenteelliset ja tavoitteelliset kokonaisuudet, mitkä vaihtelevat hieman aikakausien välillä. Tarkastelun tarkoitus on sivistyskäsitteiden löytämisen lisäksi tunnistaa ne pedagogiset toimintatavat, jotka tukevat sivistysprosesseja. Viimeisessä luvussa yhdistetään aiemmat tulkinnat ja muodostetaan olennaisimmat johtopäätökset. Tavoitteena on luoda kokoava katsaus sivistyksen filosofisista lähtökohdista ja opetussuunnitelman perusteiden sisällöistä. Ratkaiseva näkökulma on tutkia aiempien lukujen risteävyyttä ja niitä yhdistäviä periaatteita. Luvussa käsitellään sivistyksen määrittelyä perusteiden pohjalta, jota verrataan aiempiin havaintoihin. Samalla nostetaan esiin sivistystä tukevat pedagogiset toimintamallit, mitkä kytkeytyvät lähdekirjallisuuteen. Pohdintaluvun tarkoitus on tarjota näkökanta kysymykseen: toteutuuko koulun sivistystehtävä? Lisäksi pohdinnan kohteena on sivistyskäsitteen tulkintaan liittyvät ongelmat ja haasteet. Opetussuunnitelman perusteiden analysointi ja sivistystehtävän arvioiminen tukevat ennakoivien päätelmien muodostamista. Näin ollen luvussa otetaan kantaa myös perusopetuksen kehityksen suuntaan ja sivistystehtävän täyttymiseen tulevaisuudessa

Ratkaisukeskeisen ohjauksen hyödyntäminen kouluympäristössä

Tiivistelmä. Tutkielman tavoite on esitellä ratkaisukeskeinen lähestymistapa opinto-ohjaukseen ja pohtia sen mahdollisuuksia kouluympäristössä. Oppilasmäärien kasvaessa ja suurten koululaitosten yleistyessä syntyy uusia haasteita, jotka nostavat esiin kysymyksiä opinto-ohjauksen asianmukaisesta toteuttamisesta. Ratkaisukeskeinen lähestymistapa tarjoaa käytännöllisen ja tehokkaan vaihtoehdon ohjaukseen, mikä pyrkii vastaamaan nykyisiin ja tuleviin ongelmiin. Tutkimusmenetelmä tutkielmassa on kuvaileva kirjallisuuskatsaus. Olen etsinyt aiheesta suoritettuja tutkimuksia ja vertaillut niitä keskenään. Havaintojen pohjalta olen koonnut johtopäätöksiä, joiden avulla tarkastelen ilmiön ominaisuuksia ja luonnetta. Hyödynsin käsittelyssä myös opinto-ohjausta koskevaa ammattikirjallisuutta, mikä tukee kokonaiskuvan hahmottamista. Tarkastelu osoittaa, että ratkaisukeskeisellä lähestymistavalla on merkittävä mahdollisuus kehittää opinto-ohjausta kouluympäristössä. Ratkaisukeskeinen opinto-ohjaus selvittää yleisiä käytännön haasteita, kuten ajan käyttöön ja ohjauksen vaikuttavuuteen liittyviä kokonaisuuksia. Samalla kyseinen lähestymistapa tukee oppilaiden hyvinvointia ja auttaa lieventämään häiriökäyttäytymistä. Lisäksi ratkaisukeskeinen asetelma luo positiivisen ja kannustavan vuorovaikutussuhteen oppilaan ja ohjaajan välille, mikä edesauttaa ohjauksen tehokkuutta. Ratkaisukeskeinen lähestymistapa näyttäytyy vaikuttavalta vaihtoehdolta opinto-ohjaukseen, mutta sitä ei voida pitää lopullisena ratkaisuna kaikkiin tilanteisiin. Osittain ristiriitaiset tulokset kertovat, että tietyissä tilanteissa ratkaisukeskeisyys ei tuo lisäarvoa ohjauksen toteuttamiseen. Oppilaiden yksilöllisyyden ja ongelmien moniulotteisuuden takia ohjauksessa tulisi pitää laaja valmius erilaisiin menetelmiin. Lisätutkimusten avulla voidaan kuitenkin selvittää tarkemmin ne tilanteet ja olosuhteet, joissa ratkaisukeskeinen lähestymistapa on optimaalinen

The prognostic value of extramural venous invasion in preoperative MRI of rectal cancer patients

Aim This study aimed to examine the prognostic value of extramural venous invasion observed in preoperative MRI on survival and recurrences. Method In total, 778 rectal cancer patients were evaluated in multidisciplinary meetings in Helsinki University Hospital during the years 2016-2018. 635 patients met the inclusion criteria of stage I-III disease and were intended for curative treatment at the time of diagnosis. 128 had extramural venous invasion in preoperative MRI. Results The median follow-up time was 2.5 years. In a univariate analysis extramural venous invasion was associated with poorer disease-specific survival (hazard ratio [HR] 2.174, 95% CI 1.118-4.224, P = 0.022), whereas circumferential margin = T3c or nodal positivity were not. Disease recurrence occurred in 17.3% of the patients: 13.4% had metastatic recurrence only, 1.7% mere local recurrence and 2.2% both metastatic and local recurrence. In multivariate analysis, extramural venous invasion (HR 1.734, 95% CI 1.127-2.667, P = 0.012) and nodal positivity (HR 1.627, 95% CI 1.071-2.472, P = 0.023) were risk factors for poorer disease-free survival (DFS). Circumferential marginPeer reviewe

A quasi-three-dimensional model for predicting rainfall-runoff processes in a forested catchment in Southern Finland

International audienceRunoff generation in a forested catchment (0.18 km2) was simulated using a quasi-three-dimensional rainfall-runoff model. The model was formulated over a finite grid where water movement was assumed to be dominantly vertical in the unsaturated soil zone and horizontal in the saturated soil. The vertical soil moisture distribution at each grid cell was calculated using a conceptual approximation to the one-dimensional Richards equation. The approximation allowed the use of a simple soil surface boundary condition and an efficient solution to the water table elevation over the finite grid. The approximation was coupled with a two-dimensional ground water model to calculate lateral soil water movement between the grid cells and exfiltration over saturated areas, where runoff was produced by the saturation-excess mechanism. Runoff was an input to a channel network, which was modelled as a nonlinear reservoir. The proposed approximation for the vertical soil moisture distribution in unsaturated soil compared well to a numerical solution of the Richards equation during shallow water table conditions, but was less satisfactory during prolonged dry periods. The simulation of daily catchment outflow was successful with the exception of underprediction of extremely high peak flows. The calculated water table depth compared satisfactorily with the measurements. An overall comparison with the earlier results of tracer studies indicated that the modelled contribution of direct rainfall/snowmelt in streamflow was higher than the isotopically traced fraction of event-water in runoff. The seasonal variation in the modelled runoff-contributing areas was similar to that in the event-water-contributing areas from the tracer analysis

Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis

Allele-specific expression (ASE) of the Adenomatous Polyposis Coli (APC) gene occurs in up to one-third of families with adenomatous polyposis (FAP) that have screened mutation-negative by conventional techniques. To advance our understanding of the genomic basis of this phenomenon, 54 APC mutation-negative families (21 with classical FAP and 33 with attenuated FAP, AFAP) were investigated. We focused on four families with validated ASE and scrutinized these families by sequencing of the blood transcriptomes (RNA-seq) and genomes (WGS). Three families, two with classical FAP and one with AFAP, revealed deep intronic mutations associated with pseudoexons. In all three families, intronic mutations (c.646-1806T > G in intron 6, c.1408+729A > G in intron 11, and c.1408+731C > T in intron 11) created new splice donor sites resulting in the insertion of intronic sequences (of 127 bp, 83 bp, and 83 bp, respectively) in the APC transcript. The respective intronic mutations were absent in the remaining polyposis families and the general population. Premature stop of translation as the predicted consequence as well as co-segregation with polyposis supported the pathogenicity of the pseudoexons. We conclude that next generation sequencing on RNA and genomic DNA is an effective strategy to reveal and validate pseudoexons that are regularly missed by traditional screening methods and is worth considering in apparent mutation-negative polyposis families.Instituto Multidisciplinario de Biología Celula

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the MLH1 and MSH2 genes. Methods. Carriers of pathogenic variants of MLH1 (path_MLH1) and MSH2 (path_MSH2) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of path MLH1 and path_MSH2.Peer reviewe

Immunoprofiles and DNA Methylation of Inflammatory Marker Genes in Ulcerative Colitis-Associated Colorectal Tumorigenesis

Immunological and epigenetic changes are interconnected and contribute to tumorigenesis. We determined the immunoprofiles and promoter methylation of inflammation-related genes for colitis-associated colorectal carcinomas (CA-CRC). The results were compared with Lynch syndrome (LS)-associated colorectal tumors, which are characterized by an active immune environment through inherited mismatch repair defects. CA-CRCs (n = 31) were immunohistochemically evaluated for immune cell scores (ICSs) and PDCD1 and CD274 expression. Seven inflammation-associated genes (CD274, NTSR1, PPARG, PTGS2, PYCARD, SOCS1, and SOCS2), the repair gene MGMT, and eight standard marker genes for the CpG Island Methylator Phenotype (CIMP) were investigated for promoter methylation in CA-CRCs, LS tumors (n = 29), and paired normal mucosae by multiplex ligation-dependent probe amplification. All but one CA-CRCs were microsatellite-stable and all LS tumors were microsatellite-unstable. Most CA-CRCs had a high ICS (55%) and a positive CD274 expression in immune cells (52%). NTSR1 revealed frequent tumor-specific hypermethylation in CA-CRC and LS. When compared to LS mucosae, normal mucosae from patients with CA-CRC showed significantly higher methylation of NTSR1 and most CIMP markers. In conclusion, CA-CRCs share a frequent ICShigh/CD274pos expression pattern with LS tumors. Elevated methylation in normal mucosa may indicate field cancerization as a feature of CA-CRC-associated tumorigenesis

Immunoprofiles and DNA Methylation of Inflammatory Marker Genes in Ulcerative Colitis-Associated Colorectal Tumorigenesis

Immunological and epigenetic changes are interconnected and contribute to tumorigenesis. We determined the immunoprofiles and promoter methylation of inflammation-related genes for colitis-associated colorectal carcinomas (CA-CRC). The results were compared with Lynch syndrome (LS)-associated colorectal tumors, which are characterized by an active immune environment through inherited mismatch repair defects. CA-CRCs (n = 31) were immunohistochemically evaluated for immune cell scores (ICSs) and PDCD1 and CD274 expression. Seven inflammation-associated genes (CD274, NTSR1, PPARG, PTGS2, PYCARD, SOCS1, and SOCS2), the repair gene MGMT, and eight standard marker genes for the CpG Island Methylator Phenotype (CIMP) were investigated for promoter methylation in CA-CRCs, LS tumors (n = 29), and paired normal mucosae by multiplex ligation-dependent probe amplification. All but one CA-CRCs were microsatellite-stable and all LS tumors were microsatellite-unstable. Most CA-CRCs had a high ICS (55%) and a positive CD274 expression in immune cells (52%). NTSR1 revealed frequent tumor-specific hypermethylation in CA-CRC and LS. When compared to LS mucosae, normal mucosae from patients with CA-CRC showed significantly higher methylation of NTSR1 and most CIMP markers. In conclusion, CA-CRCs share a frequent ICShigh/CD274pos expression pattern with LS tumors. Elevated methylation in normal mucosa may indicate field cancerization as a feature of CA-CRC-associated tumorigenesis

Atypical perceptual and neural processing of emotional prosodic changes in children with autism spectrum disorders

Objective: The present study explored the processing of emotional speech prosody in school-aged children with autism spectrum disorders (ASD) but without marked language impairments (children with ASD [no LI]). Methods: The mismatch negativity (MMN)/the late discriminative negativity (LDN), reflecting pre-attentive auditory discrimination processes, and the P3a, indexing involuntary orienting to attention-catching changes, were recorded to natural word stimuli uttered with different emotional connotations (neutral, sad, scornful and commanding). Perceptual prosody discrimination was addressed with a behavioral sound-discrimination test. Results: Overall, children with ASD (no LI) were slower in behaviorally discriminating prosodic features of speech stimuli than typically developed control children. Further, smaller standard-stimulus event related potentials (ERPs) and MMN/LDNs were found in children with ASD (no LI) than in controls. In addition, the amplitude of the P3a was diminished and differentially distributed on the scalp in children with ASD (no LI) than in control children. Conclusions: Processing of words and changes in emotional speech prosody is impaired at various levels of information processing in school-aged children with ASD (no LI). Significance: The results suggest that low-level speech sound discrimination and orienting deficits might contribute to emotional speech prosody processing impairments observed in ASD. (C) 2018 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.Peer reviewe

Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome

BACKGROUND & AIMS: Lynch syndrome is caused by variants in DNA mismatch repair (MMR) genes and associated with an increased risk of colorectal cancer (CRC). In patients with Lynch syndrome, CRCs can develop via different pathways. We studied associations between Lynch syndrome-associated variants in MMR genes and risks of adenoma and CRC and somatic mutations in APC and CTNNB1 in tumors in an international cohort of patients. METHODS: We combined clinical and molecular data from 3 studies. We obtained clinical data from 2747 patients with Lynch syndrome associated with variants in MLH1, MSH2, or MSH6 from Germany, the Netherlands, and Finland who received at least 2 surveillance colonoscopies and were followed for a median time of 7.8 years for development of adenomas or CRC. We performed DNA sequence analyses of 48 colorectal tumors (from 16 patients with mutations in MLH1, 29 patients with mutations in MSH2, and 3 with mutations in MSH6) for somatic mutations in APC and CTNNB1. RESULTS: Risk of advanced adenoma in 10 years was 17.8% in patients with pathogenic variants in MSH2 vs 7.7% in MLH1 (P <.001). Higher proportions of patients with pathogenic variants in MLH1 or MSH2 developed CRC in 10 years (11.3% and 11.4%) than patients with pathogenic variants in MSH6 (4.7%) (P = .001 and P = .003 for MLH1 and MSH2 vs MSH6, respectively). Somatic mutations in APC were found in 75% of tumors from patients with pathogenic variants in MSH2 vs 11% in MLH1 (P = .015). Somatic mutations in CTNNB1 were found in 50% of tumors from patients with pathogenic variants in MLH1 vs 7% in MSH2 (P = .002). None of the 3 tumors with pathogenic variants in MSH6 had a mutation in CTNNB1, but all had mutations in APC. CONCLUSIONS: In an analysis of clinical and DNA sequence data from patients with Lynch syndrome from 3 countries, we associated pathogenic variants in MMR genes with risk of adenoma and CRC, and somatic mutations in APC and CTNNB1 in colorectal tumors. If these findings are confirmed, surveillance guidelines might be adjusted based on MMR gene variants.Peer reviewe