18q12.3-q21.1 microdeletion detected in the prenatally alcohol-exposed dizygotic twin with discordant fetal alcohol syndrome phenotype

Abstract Background A pair of dizygotic twins discordantly affected by heavy prenatal alcohol exposure (PAE) was reported previously by Riikonen, suggesting the role of genetic risk or protective factors in the etiology of alcohol-induced developmental disorders. Now, we have re-examined these 25-year-old twins and explored genetic origin of the phenotypic discordancy reminiscent with fetal alcohol syndrome (FAS). Furthermore, we explored alterations in DNA methylation profile of imprinting control region at growth-related insulin-like growth factor 2 (IGF2)/H19 locus in twins' white blood cells (WBC), which have been associated earlier with alcohol-induced genotype-specific changes in placental tissue. Methods Microarray-based comparative genomic hybridization (aCGH) was used to detect potential submicroscopic chromosomal abnormalities, and developmental as well as phenotypic information about twins were collected. Traditional bisulfite sequencing was used for DNA methylation analysis. Results Microarray-based comparative genomic hybridization revealed a microdeletion 18q12.3-q21.1. in affected twin, residing in a known 18q deletion syndrome region. This syndrome has been associated with growth restriction, developmental delay or intellectual deficiency, and abnormal facial features in previous studies, and thus likely explains the phenotypic discordancy between the twins. We did not observe association between WBCs? DNA methylation profile and PAE, but interestingly, a trend of decreased DNA methylation at the imprinting control region was seen in the twin with prenatal growth retardation at birth. Conclusions The microdeletion emphasizes the importance of adequate chromosomal testing in examining the etiology of complex alcohol-induced developmental disorders. Furthermore, the genotype-specific decreased DNA methylation at the IGF2/H19 locus cannot be considered as a biological mark for PAE in adult WBCs.Peer reviewe

Tekoäly viranomaistoiminnassa - eettiset kysymykset ja yhteiskunnallinen hyväksyttävyys

Tekoälyn ja ohjelmistorobottien käyttö lisääntyy - myös viranomaistoiminnassa - muuttaen prosesseja ja toimintatapoja. Uusien teknologioiden ja järjestelmien käyttöönotolla on moninaisia vaikutuksia niin kansalaisten, virkamiesten kuin koko yhteiskunnankin näkökulmasta. Yhteiskunnan arvojen mukainen eettinen toiminta ja siitä kumpuava luottamus tulisi säilyttää myös tekoälyn aikakaudella. Tässä selvityksessä on aluksi tarkasteltu käsityksiä etiikasta ja hyväksyttävyydestä yleisesti ja erityisesti teknologian kehittämisen ja käyttöönoton yhteydessä. Tuloksena on esitetty selvitystyön aikana kehitetty eettinen toimintamalli. Koska eettisyys on vahvasti kontekstisidonnaista, on tekoälyn eettisyyttä viran-omaistoiminnassa tarkasteltu käyttötapausten avulla, joita selvitettiin haastattelemalla 13 valtionhallinnon toimijaa. Käyttötapausten eettisiä ja hyväksyttävyyskysymyksiä tarkasteltiin työpajoissa. Hyväksyttävyyttä selvitettiin lisäksi tekemällä kansalaiskysely ja analysoimalla internetissä käytyä keskustelua tekoälystä ja sen käytöstä viranomaistoiminnassa. Raportissa on esitetty vahvimmin esille tulleet eettisyyteen ja hyväksyttävyyteen liittyvät kysymykset sekä kysymyksiin liittyviä ratkaisuehdotuksia. Tekoäly viranomaistoiminnassa saatetaan nähdä eettisten ongelmien aiheuttajana, mutta se avaa paljon myös positiivisia mahdollisuuksia, kuten monenlaisia laadun parantamisen keinoja. Siten tekoäly viisaasti käytettynä on eettisyyden ja yhteiskunnallisen hyväksyttävyyden kannalta positiivisen muutok-sen mahdollistaja ja voi parhaimmillaan jopa ratkaista eettisyyteen ja yhteiskunnalliseen hyväksyttävyyteen liittyviä ongelmia

Genome sequence of the model plant pathogen Pectobacterium carotovorum SCC1

Bacteria of the genus Pectobacterium are economically important plant pathogens that cause soft rot disease on a wide variety of plant species. Here, we report the genome sequence of Pectobacterium carotovorum strain SCC1, a Finnish soft rot model strain isolated from a diseased potato tuber in the early 1980's. The genome of strain SCC1 consists of one circular chromosome of 4,974,798 bp and one circular plasmid of 5524 bp. In total 4451 genes were predicted, of which 4349 are protein coding and 102 are RNA genes.Peer reviewe

Consequences of the Lack of CD73 and Prostatic Acid Phosphatase in the Lymphoid Organs

CD73, ecto-5&#39;-nucleotidase, is the key enzyme catalyzing the conversion of extracellular AMP to adenosine that controls vascular permeability and immunosuppression. Also prostatic acid phosphatase (PAP) possesses ecto-5&#39;-nucleotidase/AMPase activity and is present in leukocytes. However, its role related to immune system is unknown. Therefore, we analyzed enzymatic activities and leukocyte subtypes of CD73 and PAP knockouts and generated CD73/PAP double knockout mice to elucidate the contribution of CD73 and PAP to immunological parameters. Enzymatic assays confirmed the ability of recombinant human PAP to hydrolyze [H-3] AMP, although at much lower rate than human CD73. Nevertheless, 5&#39;-nucleotidase/AMPase activity in splenocytes and lymphocytes from PAP(-/-) mice tended to be lower than in wild-type controls, suggesting potential contribution of PAP, along with CD73, into lymphoid AMP metabolism ex vivo. Single knockouts had decreased number of CD4(+)/CD25(+)/FoxP(3)(+) regulatory T cells in thymus and CD73/PAP double knockouts exhibited reduced percentages of CD4(+) cells in spleen, regulatory T cells in lymph nodes and thymus, and CD4(+) and CD8(+) cells in blood. These findings suggest that PAP has a synergistic role together with CD73 in the immune system by contributing to the balance of leukocyte subpopulations and especially to the number of regulatory T cells in lymph nodes and thymus.</p

Evaluation of the Finnish National Biodiversity Action Plan 1997-2005

The results of the evaluation of the Finnish National Biodiversity Action Plan 1997-2005 indicate clear changes towards better consideration of biodiversity in the routines and policies of many sectors of the administration and economy. There are many indications that actors across society have recognized the need to safeguard biodiversity and have begun to adjust their practices accordingly. Several concrete measures have been undertaken in forests, agricultural habitats and in other habitats significantly affected by human activities. Biodiversity research has expanded significantly and the knowledge of Finland´s biological diversity has increased. In general, the Action Plan has supported public discussion of the need to safeguard biodiversity and this discussion has resulted in more positive attitudes towards nature conservation.So far, however, the implemented measures have not been sufficiently numerous or efficient to stop the depletion of original biological diversity. Many habitats remain far from their original state. More species will become endangered in the immediate future unless more effective and far-reaching measuresare taken. The objective of the EU to halt the decline of biodiversity by 2010 will not be achieved given the current development. Although the deterioration in biodiversity may have slowed down in several cases, many economic activities continue to have a negative impact on biodiversity. The scale of these activities is normally greater than that of the measures taken to manage and restore biodiversity.The evaluation focused on detecting changes in the administration of key sectors, analysing the recent development of biodiversity and observing interlinkages between these two. The analysis of administrative measures was based on interviews and on examining policy documents, reports and other relevant literature. The analysis covered changes in the administration of nature conservation, forestry,  agriculture, land use and regional and development cooperation. The analysis of the development of biodiversity was based on employing 75 pressure, state, impact and response indicators. There were 5 to 15 indicators for each of the nine major habitat types of Finland.Three separate case studies were made to provide further insights into some key issues: 1) A GISanalysis was made of the development of land use patterns in North Karelia and south-west Finland between 1990 and 2000, 2) two scenarios on the development of forest structure in North Karelia until 2050 were developed using a special MELA-model and 3) the cost-effectiveness of the agri-environmental support scheme was examined by comparing different land allocation choices and their effects on biodiversity on an average farm in southern Finland. The evaluation also paid special attention to the role of research in safeguarding biodiversity and reflected Finnish experiences against an international background

Preperitoneal Fat Grafting Inhibits the Formation of Intra-abdominal Adhesions in Mice

BACKGROUND: Adhesion formation contributes to postoperative complications in abdominal and gynaecological surgery. Thus far, the prevention and treatment strategies have focused on mechanical barriers in solid and liquid form, but these methods are not in routine use. As autologous fat grafting has become popular in treatment of hypertrophic scars because of its immunomodulatory effects, we postulated that fat grafting could also prevent peritoneal adhesion through similar mechanisms.METHODS: This was a control versus intervention study to evaluate the effect of fat grafting in the prevention on peritoneal adhesion formation. An experimental mouse model for moderate and extensive peritoneal adhesions was used (n = 4-6 mice/group). Adhesions were induced mechanically, and a free epididymal fat graft from wild type or CAG-DsRed mice was injected preperitoneally immediately after adhesion induction. PET/CT imaging and scaling of the adhesions were performed, and samples were taken for further analysis at 7 and 30 days postoperation. Macrophage phenotyping was further performed from peritoneal lavage samples, and the expression of inflammatory cytokines and mesothelial layer recovery were analysed from peritoneal tissue samples.RESULTS: Fat grafting significantly inhibited the formation of adhesions. PET/CT results did not show prolonged inflammation in any of the groups. While the expression of anti-inflammatory and anti-fibrotic IL-10 was significantly increased in the peritoneum of the fat graft-treated group at 7 days, tissue-resident and repairing M2 macrophages could no longer be detected in the fat graft at this time point. The percentage of the continuous, healed peritoneum as shown by Keratin 8 staining was greater in the fat graft-treated group after 7 days.CONCLUSIONS: Fat grafting can inhibit the formation of peritoneal adhesions in mice. Our results suggest that fat grafting promotes the peritoneal healing process in a paracrine manner thereby enabling rapid regeneration of the peritoneal mesothelial cell layer.</div