Array-based gene expression, CGH and tissue data defines a 12q24 gain in neuroblastic tumors with prognostic implication

Neuroblastoma has successfully served as a model system for the identification of neuroectoderm-derived oncogenes. However, in spite of various efforts, only a few clinically useful prognostic markers have been found. Here, we present a framework, which integrates DNA, RNA and tissue data to identify and prioritize genetic events that represent clinically relevant new therapeutic targets and prognostic biomarkers for neuroblastoma.Peer reviewe

Äidin verestä otettavan sikiötestin (NIPT) vaikutus jatkotutkimuksiin osallistumiseen ja löydöksiin seulontapositiivisissa raskauksissa

VertaisarvioituPeer reviewe

New Insights into Alzheimer's Disease Progression: A Combined TMS and Structural MRI Study

BACKGROUND: Combination of structural and functional data of the human brain can provide detailed information of neurodegenerative diseases and the influence of the disease on various local cortical areas. METHODOLOGY AND PRINCIPAL FINDINGS: To examine the relationship between structure and function of the brain the cortical thickness based on structural magnetic resonance images and motor cortex excitability assessed with transcranial magnetic stimulation were correlated in Alzheimer's disease (AD) and mild cognitive impairment (MCI) patients as well as in age-matched healthy controls. Motor cortex excitability correlated negatively with cortical thickness on the sensorimotor cortex, the precuneus and the cuneus but the strength of the correlation varied between the study groups. On the sensorimotor cortex the correlation was significant only in MCI subjects. On the precuneus and cuneus the correlation was significant both in AD and MCI subjects. In healthy controls the motor cortex excitability did not correlate with the cortical thickness. CONCLUSIONS: In healthy subjects the motor cortex excitability is not dependent on the cortical thickness, whereas in neurodegenerative diseases the cortical thinning is related to weaker cortical excitability, especially on the precuneus and cuneus. However, in AD subjects there seems to be a protective mechanism of hyperexcitability on the sensorimotor cortex counteracting the prominent loss of cortical volume since the motor cortex excitability did not correlate with the cortical thickness. Such protective mechanism was not found on the precuneus or cuneus nor in the MCI subjects. Therefore, our results indicate that the progression of the disease proceeds with different dynamics in the structure and function of neuronal circuits from normal conditions via MCI to AD

A molecular-based identification resource for the arthropods of Finland

Publisher Copyright: © 2021 The Authors. Molecular Ecology Resources published by John Wiley & Sons Ltd.To associate specimens identified by molecular characters to other biological knowledge, we need reference sequences annotated by Linnaean taxonomy. In this study, we (1) report the creation of a comprehensive reference library of DNA barcodes for the arthropods of an entire country (Finland), (2) publish this library, and (3) deliver a new identification tool for insects and spiders, as based on this resource. The reference library contains mtDNA COI barcodes for 11,275 (43%) of 26,437 arthropod species known from Finland, including 10,811 (45%) of 23,956 insect species. To quantify the improvement in identification accuracy enabled by the current reference library, we ran 1000 Finnish insect and spider species through the Barcode of Life Data system (BOLD) identification engine. Of these, 91% were correctly assigned to a unique species when compared to the new reference library alone, 85% were correctly identified when compared to BOLD with the new material included, and 75% with the new material excluded. To capitalize on this resource, we used the new reference material to train a probabilistic taxonomic assignment tool, FinPROTAX, scoring high success. For the full-length barcode region, the accuracy of taxonomic assignments at the level of classes, orders, families, subfamilies, tribes, genera, and species reached 99.9%, 99.9%, 99.8%, 99.7%, 99.4%, 96.8%, and 88.5%, respectively. The FinBOL arthropod reference library and FinPROTAX are available through the Finnish Biodiversity Information Facility (www.laji.fi) at https://laji.fi/en/theme/protax. Overall, the FinBOL investment represents a massive capacity-transfer from the taxonomic community of Finland to all sectors of society.Peer reviewe

Lastentarhanopettajien huippukokemukset työhyvinvointia rakentamassa

Tutkimus tarkastelee lastentarhanopettajien työhön liittyviä huippukokemuksia. Teoreettisena lähtökohtana toimii Csikszentmihalyin flowkäsite. Ilmiötä lähestytään kolmen tutkimusongelman avulla, joilla selvitetään huippukokemusten ominaisuuksia, työtiimin ja -yhteisön merkitystä niiden ilmenemiseen sekä huippukokemusten yhteyttä työhyvinvointiin. Tutkimuksen tarkoituksena on ollut löytää työhyvinvointiin vaikuttavia tekijöitä ja mahdollisia keinoja hyvinvoinnin lisäämiseksi päiväkotikontekstissa. Lastentarhanopettajien työhön liittyvät huippukokemukset eli työhön uppoutumisen hetket olivat erityisiä kokemuksia ja ne erosivat arkisesta työnilosta. Tilanteisiin sisältyi onnistumisen ja pystyvyyden tunteita. Suurin osa lastentarhanopettajien huippukokemuksista liittyi kasvatuksellisiin ja pedagogisiin tilanteisiin, jotkut myös yhteistyöosaamiseen. Huippukokemusten keskeisiä elementtejä olivat vuorovaikutus ja läsnä olevien ihmisten antama myönteinen palaute. Työhön uppoutuminen edellytti rohkeutta heittäytyä tilanteeseen, mitä hyvä ja kunnioittava työilmapiiri edisti. Työtiimin merkitys huippukokemusten ilmenemiseen osoittautui työyhteisöä tärkeämmäksi. Myös päiväkodin käytettävissä olevilla resursseilla oli merkitystä, erityisesti kiireettömyys ja mahdollisuus pienryhmätoimintaan edistivät työhön uppoutumista. Huippukokemuksilla oli myönteinen vaikutus työhyvinvointiin. Ne voimauttivat lastentarhanopettajia ja vahvistivat heidän ammatti-identiteettiään. Lisäksi uppoutumisen hetket näyttivät lisäävän työtiimin yhteisöllisyyttä. Huippukokemukset osoittivat, millaiset tekijät vaikuttavat työhyvinvointiin ja toisaalta mitkä asiat päiväkotikontekstissa tuottavat lastentarhanopettajille työniloa. Uppoutumisen kokemusten kautta on mahdollista kokea työn merkityksellisyyttä ja saada palautetta tehdystä työstä. Ne kertovat myös lastentarhanopettajien ammatillisesta osaamisesta. Huippukokemuksia voi käyttää työn tutkimisen ja kehittämisen välineenä. Tulokset painottavat päiväkodin riittävien resurssien ja hyvän työilmapiirin merkitystä

Detailed genomic mapping and expression analyses of 12p amplifications in pancreatic carcinomas reveal a 3.5-Mb target region for amplification.

Previous cytogenetic and comparative genomic hybridization (CGH) analyses have shown that the gain of chromosome arm 12p is frequent in pancreatic carcinomas. We investigated 15 pancreatic carcinoma cell lines using CGH, fluorescence in situ hybridization (FISH), and semiquantitative polymerase chain reaction (PCR) to characterize 12p amplifications in detail. The CGH analysis revealed gains of 12p in four of the cell lines and local amplification within 12p11-12 in six cell lines. By FISH analysis, using precisely mapped YAC clones, the commonly amplified region was found to be approximately 5 Mb. The amplified segment extended from YAC 753f12, covering the KRAS2 locus, to YAC 891f1, close to the centromere. A semiquantitative PCR methodology was used to estimate genomic copy numbers of 14 precisely mapped expressed sequence tags (ESTs) and sequence-tagged sites, located within this interval. The level of amplification ranged from two- to 12-fold. The produced gene copy profiles revealed a 3.5-Mb segment with various local amplifications. This region includes KRAS2 and ranges from D12S1617 to sts-N38796. Two of the cell lines (primary and metastatic tumor from the same patient) showed amplification peaks within the distal region of this segment, two had peaks within the proximal region, one showed subpeaks in both regions, and one displayed amplification of the entire region. Chromosome segment-specific cDNA array analysis of 29 expressed sequences within the whole interval between D12S1617 and sts-N38796 indicated overexpression of four ESTs, two corresponding to DEC2 and PPFIBP1, and two to ESTs with unknown function. Expression analysis of these and of KRAS2 showed specific overexpression in the six cell lines with local 12p amplifications. These findings indicate two target regions within the 3.5-Mb segment in 12p11-12, one proximal including PPFIBP1, and one distal including KRAS2