Þéttleiki og samfélög fugla á svæðum sem hafa verið grædd upp með framandi eða innlendum plöntutegundum

This paper was prepared as a part of the M.Sc. thesis of the first author at the Agricultural University of Iceland. We are grateful for the contribution of The Icelandic Soil Conservation Service, Náttúrusjóður Pálma Jónssonar and Kvískerjasjóður to this project. We thank the employees of The Icelandic Soil Conservation Service and Icelandic Institute of Natural History who contributed with their help and advice.Degradation of ecosystems and introductions of invasive species pose a threat to global biodiversity. Ecosystem restoration and revegetation actions are important for amending habitat loss and for the protection of species of plants and animals. Iceland has the highest rate of soil erosion and desertification in Northern Europe and counteractions to erosion and revegetation measures have taken place for over a century. We studied the effect of revegetation on the density and composition of birds and invertebrate abundance in 26 survey areas comparing: a) unvegetated eroded areas, b) native heathlands restored on eroded land, and c) revegetation by the introduced and exotic Nootka lupin (Lupinus nootkatensis) on eroded land. Birds were counted on transects and invertebrates sampled with a sweep net. Both revegetation methods greatly increased the abundance of birds. The highest total numbers of invertebrates and birds were recorded on land revegetated with Nootka lupin. On average 31 birds km-2 were recorded on barren land, 337 on heathland and 627 in Nootka lupin. Bird species composition differed between the two revegetation methods. Restored heathland provided habitat for waders of internationally decreasing populations, whereas Nootka lupin stands harboured more common bird species. Golden Plover (Pluvialis apricaria) and Dunlin (Calidris alpina) were most common on restored heathland, while Snipe (Gallinago gallinago) and Meadow Pipit (Anthus pratensis) were most common in Nootka lupine. The abundance of birds was positively correlated with that of invertebrates. The abundance of different bird species differed by successional stage in each habitat. The study showed the generally positive effects of revegetation on animal biodiversity and also how different revegetation methods produce different trajectories of ecosystem development.Hnignun vistkerfa og dreifing ágengra tegunda ógna líffræðilegum fjölbreytileika á heimsvísu. Vistheimt og landgræðsla eru mikilvægar aðgerðir til að endurheimta töpuð vistkerfi. Hvergi í Norður-Evrópu hefur jarðvegseyðing og eyðimerkurmyndun verið hraðari en á Íslandi. Í þessari rannsókn voru könnuð áhrif mismunandi landgræðsluaðgerða á þéttleika og tegundasamsetningu fugla og á fjölda smádýra. Rannsóknirnar voru gerðar á 26 stöðum á landinu. Á hverjum stað voru borin saman; a) óuppgrætt svæði, b) endurheimt mólendi og c) land sem hafði verið grætt upp með alaskalúpínu (Lupinus nootkatensis). Á óuppgræddu landi var að meðaltali 31 fugl á km2, 337 á endurheimtu mólendi og 627 á landi sem hafði verið grætt upp með lúpínu. Þéttleiki fugla hafði jákvæða fylgni við fjölda smádýra. Tegundasamsetning fugla var ólík eftir uppgræðsluaðferðum. Í endurheimtu mólendi var mest um vaðfugla af tegundum sem er að hnigna á heimsvísu, en í lúpínu var meira um algengari tegundir. Heiðlóa og lóuþræll voru algengustu tegundirnar í endurheimtu mólendi, en hrossagaukur og þúfutittlingur í lúpínu. Þéttleiki sumra fuglategunda virtist vera háður framvindustigi landgræðslusvæða. Þessi rannsókn sýnir að landgræðsla eykur líffræðilega fjölbreytni dýrategunda, en mismunandi landgræðsluaðgerðir leiða til mismunandi þróunar vistkerfanna.Náttúrusjóður Pálma Jónssonar; KvískerjasjóðurPeer Reviewe

The short-and long term effect of multidisciplinary obesity treatment on body mass index and mental health

Efst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinnInngangur: Markmið rannsóknarinnar var að meta skammtíma- og langtímaárangur fjögurra vikna þverfaglegrar hópmeðferðar vegna offitu með eftirfylgd ásamt því að bera saman árangur þeirra sem fóru í hjáveituað- gerð og hinna sem ekki fóru í slíka aðgerð. Efniviður og aðferðir: Þátttakendur voru 100 sjúklingar sem frá árinu 2007 höfðu lokið fjögurra vikna offitumeðferð með allt að tveggja ára eftirfylgd á Fjórðungssjúkrahúsinu í Neskaupstað (FSN). Að meðferð lokinni fóru 28 sjúklingar í hjáveituaðgerð. Þyngd, þunglyndis- og kvíðaeinkenni auk lífsgæða voru mæld hjá þátttakendum fyrir og eftir meðferð, og síðan aftur með póstsendum spurningalistum í þversniðsgagnasöfnun sumarið 2012. Niðurstöður: Þátttakendur léttust marktækt auk þess sem andleg líðan og lífsgæði bötnuðu eftir offitumeðferð (miðgildi 1,85, líkamsþyngdarstuðull, LÞS stig), og hélst árangur til lengri tíma. Þremur árum eftir að meðferð lauk var þyngdartap ennþá marktækt hjá þeim sem ekki fóru í hjáveituaðgerð (miðgildi 2,13 LÞS stig), en breytingar á andlegri líðan og lífsgæðum voru hins vegar ekki lengur til staðar. Þeir sem fóru í hjáveituaðgerð léttust meira (miðgildi 13,12 LÞS stig) og náðu varanlegri árangri í lífsgæðum og þunglyndiseinkennum. Ályktun: Niðurstöður sýna að þverfagleg offitumeðferð er árangursrík leið til að draga úr offitu og bæta andlega líðan og lífsgæði til skamms tíma. Þegar veitt er eftirfylgdarmeðferð viðhelst árangurinn sem náðst hefur við að draga úr offitu allt að þremur árum eftir meðferð hjá öllum þátttakendum. Hjáveituhópurinn náði meiri árangri í að breyta holdafari sínu og sýndi varanlegri bata á þunglyndi og lífsgæðum. Þessar niðurstöður undirstrika mikilvægi þess að veita langtímameðferð til að stuðla að við- varandi árangri í glímunni við offitu.Introduction: The aim of this treatment study was to evaluate both short- and long-term effects of a multidisciplinary obesity treatment. Long-term outcomes of patients receiving gastric bypass surgery in addition to behavioral obesity treatment were compared with those who did not undergo surgery. Material and methods: The participants were 100 patients undergoing a four week inpatient obesity treatment at the Hospital in Neskaupsstaður (Fjórðungsjúkrahúsið í Neskaupstað (FSN). After treatment was completed, 28 of these patients underwent further treatment, receiving gastric bypass surgery. All patients were followed for two years after completing the four week treatment. Body mass index (BMI), quality of life and symptoms of depression and anxiety were measured for all participants before and after treatment, and again using mailed questionnaires in a cross-sectional data collection in the summer of 2012. Results: Participants achieved statistically significant weight loss (median 1,85 BMI points), improved their quality of life and mental health after four week obesity treatment, and long term results remained significant. Three years after the conclusion of treatment, statistically significant weight loss was still present for patients that had not undergone gastric bypass surgery (median 2.13 BMI points), but improvements in mental health and quality of life were no longer present among subjects who did not undergo surgery. Patients who underwent gastric bypass surgery achieved greater weight loss (median 13.12 BMI points) and longer lasting improvements in mental health and quality of life. Conclusion: Results show that the multidisciplinary obesity treatment is effective in reducing obesity and improving mental health and quality of life in the short term. With follow-up treatment, the weight loss is maintained for up to three years after treatment for all participants. The bypass surgery group lost more weight and showed more permanent improvements in mental health and quality of life. These results underline the necessity of providing long-term treatment in maintaining improvements when treating obesit

High expression of ZNF703 independent of amplification indicates worse prognosis in patients with luminal B breast cancer

Peer reviewe

A sequence variant associating with educational attainment also affects childhood cognition

Only a few common variants in the sequence of the genome have been shown to impact cognitive traits. Here we demonstrate that polygenic scores of educational attainment predict specific aspects of childhood cognition, as measured with IQ. Recently, three sequence variants were shown to associate with educational attainment, a confluence phenotype of genetic and environmental factors contributing to academic success. We show that one of these variants associating with educational attainment, rs4851266-T, also associates with Verbal IQ in dyslexic children (P=4.3 x 10(-4), beta=0.16 s.d.). The effect of 0.16 s.d. corresponds to 1.4 IQ points for heterozygotes and 2.8 IQ points for homozygotes. We verified this association in independent samples consisting of adults (P=8.3 x 10(-5), beta=0.12 s.d., combined P=2.2 x 10(-7), beta=0.14 s.d.). Childhood cognition is unlikely to be affected by education attained later in life, and the variant explains a greater fraction of the variance in verbal IQ than in educational attainment (0.7% vs 0.12%,. P=1.0 x 10(-5))

A sequence variant associating with educational attainment also affects childhood cognition

Only a few common variants in the sequence of the genome have been shown to impact cognitive traits. Here we demonstrate that polygenic scores of educational attainment predict specific aspects of childhood cognition, as measured with IQ. Recently, three sequence variants were shown to associate with educational attainment, a confluence phenotype of genetic and environmental factors contributing to academic success. We show that one of these variants associating with educational attainment, rs4851266-T, also associates with Verbal IQ in dyslexic children (P=4.3 x 10(-4), beta=0.16 s.d.). The effect of 0.16 s.d. corresponds to 1.4 IQ points for heterozygotes and 2.8 IQ points for homozygotes. We verified this association in independent samples consisting of adults (P=8.3 x 10(-5), beta=0.12 s.d., combined P=2.2 x 10(-7), beta=0.14 s.d.). Childhood cognition is unlikely to be affected by education attained later in life, and the variant explains a greater fraction of the variance in verbal IQ than in educational attainment (0.7% vs 0.12%,. P=1.0 x 10(-5))

Evidence against PALB2 involvement in Icelandic breast cancer susceptibility

Several mutations in the PALB2 gene (partner and localizer of BRCA2) have been associated with an increased risk of breast cancer, including a founder mutation, 1592delT, reported in Finnish breast cancer families. Although most often the risk is moderate, it doesn't exclude families with high-risk mutations to exist and such observations have been reported. To see if high-risk PALB2-mutations may be present in the geographically confined population of Iceland, linkage analysis was done on 111 individuals, thereof 61 breast cancer cases, from 9 high-risk non-BRCA1/BRCA2 breast cancer families, targeting the PALB2 region. Also, screening for the 1592delT founder mutation in the 9 high-risk families and in 638 unselected breast cancer cases was performed. The results indicate no linkage in any of the high-risk families and screening for the 1592delT mutation was negative in all samples. PALB2 appears not to be a significant factor in high-risk breast cancer families in Iceland and the 1592delT mutation is not seen to be associated with breast cancer in Iceland

Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 families

Abstract Introduction: A significant proportion of high-risk breast cancer families are not explained by mutations in known genes. Recent genome-wide searches (GWS) have not revealed any single major locus reminiscent of BRCA1 and BRCA2, indicating that still unidentified genes may explain relatively few families each or interact in a way obscure to linkage analyses. This has drawn attention to possible benefits of studying populations where genetic heterogeneity might be reduced. We thus performed a GWS for linkage on nine Icelandic multiple-case non-BRCA1/2 families of desirable size for mapping highly penetrant loci. To follow up suggestive loci, an additional 13 families from other Nordic countries were genotyped for selected markers. Methods: GWS was performed using 811 microsatellite markers providing about five centiMorgan (cM) resolution. Multipoint logarithm of odds (LOD) scores were calculated using parametric and nonparametric methods. For selected markers and cases, tumour tissue was compared to normal tissue to look for allelic loss indicative of a tumour suppressor gene. Results: The three highest signals were located at chromosomes 6q, 2p and 14q. One family contributed suggestive LOD scores (LOD 2.63 to 3.03, dominant model) at all these regions, without consistent evidence of a tumour suppressor gene. Haplotypes in nine affected family members mapped the loci to 2p23.2 to p21, 6q14.2 to q23.2 and 14q21.3 to q24.3. No evidence of a highly penetrant locus was found among the remaining families. The heterogeneity LOD (HLOD) at the 6q, 2p and 14q loci in all families was 3.27, 1.66 and 1.24, respectively. The subset of 13 Nordic families showed supportive HLODs at chromosome 6q (ranging from 0.34 to 1.37 by country subset). The 2p and 14q loci overlap with regions indicated by large families in previous GWS studies of breast cancer. Conclusions: Chromosomes 2p, 6q and 14q are candidate sites for genes contributing together to high breast cancer risk. A polygenic model is supported, suggesting the joint effect of genes in contributing to breast cancer risk to be rather common in non-BRCA1/2 families. For genetic counselling it would seem important to resolve the mode of genetic interaction

A sequence variant associating with educational attainment also affects childhood cognition.

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadOnly a few common variants in the sequence of the genome have been shown to impact cognitive traits. Here we demonstrate that polygenic scores of educational attainment predict specific aspects of childhood cognition, as measured with IQ. Recently, three sequence variants were shown to associate with educational attainment, a confluence phenotype of genetic and environmental factors contributing to academic success. We show that one of these variants associating with educational attainment, rs4851266-T, also associates with Verbal IQ in dyslexic children (P = 4.3 × 10-4, β = 0.16 s.d.). The effect of 0.16 s.d. corresponds to 1.4 IQ points for heterozygotes and 2.8 IQ points for homozygotes. We verified this association in independent samples consisting of adults (P = 8.3 × 10-5, β = 0.12 s.d., combined P = 2.2 x 10-7, β = 0.14 s.d.). Childhood cognition is unlikely to be affected by education attained later in life, and the variant explains a greater fraction of the variance in verbal IQ than in educational attainment (0.7% vs 0.12%,. P = 1.0 × 10-5).German Research Foundation (DFG

High-resolution genomic and expression analyses of copy number alterations in HER2-amplified breast cancer

To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldINTRODUCTION: HER2 gene amplification and protein overexpression (HER2+) define a clinically challenging subgroup of breast cancer with variable prognosis and response to therapy. Although gene expression profiling has identified an ERBB2 molecular subtype of breast cancer, it is clear that HER2+ tumors reside in all molecular subtypes and represent a genomically and biologically heterogeneous group, needed to be further characterized in large sample sets. METHODS: Genome-wide DNA copy number profiling, using bacterial artificial chromosome (BAC) array comparative genomic hybridization (aCGH), and global gene expression profiling were performed on 200 and 87 HER2+ tumors, respectively. Genomic Identification of Significant Targets in Cancer (GISTIC) was used to identify significant copy number alterations (CNAs) in HER2+ tumors, which were related to a set of 554 non-HER2 amplified (HER2-) breast tumors. High-resolution oligonucleotide aCGH was used to delineate the 17q12-q21 region in high detail. RESULTS: The HER2-amplicon was narrowed to an 85.92 kbp region including the TCAP, PNMT, PERLD1, HER2, C17orf37 and GRB7 genes, and higher HER2 copy numbers indicated worse prognosis. In 31% of HER2+ tumors the amplicon extended to TOP2A, defining a subgroup of HER2+ breast cancer associated with estrogen receptor-positive status and with a trend of better survival than HER2+ breast cancers with deleted (18%) or neutral TOP2A (51%). HER2+ tumors were clearly distinguished from HER2- tumors by the presence of recurrent high-level amplifications and firestorm patterns on chromosome 17q. While there was no significant difference between HER2+ and HER2- tumors regarding the incidence of other recurrent high-level amplifications, differences in the co-amplification pattern were observed, as shown by the almost mutually exclusive occurrence of 8p12, 11q13 and 20q13 amplification in HER2+ tumors. GISTIC analysis identified 117 significant CNAs across all autosomes. Supervised analyses revealed: (1) significant CNAs separating HER2+ tumors stratified by clinical variables, and (2) CNAs separating HER2+ from HER2- tumors. CONCLUSIONS: We have performed a comprehensive survey of CNAs in HER2+ breast tumors, pinpointing significant genomic alterations including both known and potentially novel therapeutic targets. Our analysis sheds further light on the genomically complex and heterogeneous nature of HER2+ tumors in relation to other subgroups of breast cancer

Identification of Lynch syndrome risk variants in the Romanian population.

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadTwo familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH, respectively. No information is available on the presence of high-risk CRC mutations in the Romanian population. We performed whole-genome sequencing of 61 Romanian CRC cases with a family history of cancer and/or early onset of disease, focusing the analysis on candidate variants in the LS and FAP genes. The frequencies of all candidate variants were assessed in a cohort of 688 CRC cases and 4567 controls. Immunohistochemical (IHC) staining for MLH1, MSH2, MSH6, and PMS2 was performed on tumour tissue. We identified 11 candidate variants in 11 cases; six variants in MLH1, one in MSH6, one in PMS2, and three in APC. Combining information on the predicted impact of the variants on the proteins, IHC results and previous reports, we found three novel pathogenic variants (MLH1:p.Lys84ThrfsTer4, MLH1:p.Ala586CysfsTer7, PMS2:p.Arg211ThrfsTer38), and two novel variants that are unlikely to be pathogenic. Also, we confirmed three previously published pathogenic LS variants and suggest to reclassify a previously reported variant of uncertain significance to pathogenic (MLH1:c.1559-1G>C).European Union EE