Cohort profile: the Norwegian Registry of Persons Assessed for Cognitive Symptoms (NorCog) - a national research and quality registry with a biomaterial collection

Purpose: The Norwegian Registry of Persons Assessed for Cognitive Symptoms (NorCog) was established to harmonise and improve the quality of diagnostic practice across clinics assessing persons with cognitive symptoms in Norwegian specialist healthcare units and to establish a large research cohort with extensive clinical data. Participants: The registry recruits patients who are referred for assessment of cognitive symptoms and suspected dementia at outpatient clinics in Norwegian specialist healthcare units. In total, 18 120 patients have been included in NorCog during the period of 2009–2021. The average age at inclusion was 73.7 years. About half of the patients (46%) were diagnosed with dementia at the baseline assessment, 35% with mild cognitive impairment and 13% with no or subjective cognitive impairment; 7% received other specified diagnoses such as mood disorders. Findings to date: All patients have a detailed baseline characterisation involving lifestyle and demographic variables; activities of daily living; caregiver situation; medical history; medication; psychiatric, physical and neurological examinations; neurocognitive testing; blood laboratory work-up; and structural or functional brain imaging. Diagnoses are set according to standardised diagnostic criteria. The research biobank stores DNA and blood samples from 4000 patients as well as cerebrospinal fluid from 800 patients. Data from NorCog have been used in a wide range of research projects evaluating and validating dementia-related assessment tools, and identifying patient characteristics, symptoms, functioning and needs, as well as caregiver burden and requirement of available resources. Future plans: The finish date of NorCog was originally in 2029. In 2021, the registry’s legal basis was reformalised and NorCog got approval to collect and keep data for as long as is necessary to achieve the purpose of the registry. In 2022, the registry underwent major changes. Paper-based data collection was replaced with digital registration, and the number of variables collected was reduced. Future plans involve expanding the registry to include patients from primary care centres.publishedVersio

Merging transcriptomics and metabolomics - advances in breast cancer profiling

Background Combining gene expression microarrays and high resolution magic angle spinning magnetic resonance spectroscopy (HR MAS MRS) of the same tissue samples enables comparison of the transcriptional and metabolic profiles of breast cancer. The aim of this study was to explore the potential of combining these two different types of information. Methods Breast cancer tissue from 46 patients was analyzed by HR MAS MRS followed by gene expression microarrays. Two strategies were used to combine the gene expression and metabolic data; first using multivariate analyses to identify different groups based on gene expression and metabolic data; second correlating levels of specific metabolites to transcripts to suggest new hypotheses of connections between metabolite levels and the underlying biological processes. A parallel study was designed to address experimental issues of combining microarrays and HR MAS MRS. Results In the first strategy, using the microarray data and previously reported molecular classification methods, the majority of samples were classified as luminal A. Three subgroups of luminal A tumors were identified based on hierarchical clustering of the HR MAS MR spectra. The samples in one of the subgroups, designated A2, showed significantly lower glucose and higher alanine levels than the other luminal A samples, suggesting a higher glycolytic activity in these tumors. This group was also enriched for genes annotated with Gene Ontology (GO) terms related to cell cycle and DNA repair. In the second strategy, the correlations between concentrations of myo-inositol, glycine, taurine, glycerophosphocholine, phosphocholine, choline and creatine and all transcripts in the filtered microarray data were investigated. GO-terms related to the extracellular matrix were enriched among the genes that correlated the most to myo-inositol and taurine, while cell cycle related GO-terms were enriched for the genes that correlated the most to choline. Additionally, a subset of transcripts was identified to have slightly altered expression after HR MAS MRS and was therefore removed from all other analyses. Conclusions Combining transcriptional and metabolic data from the same breast carcinoma sample is feasible and may contribute to a more refined subclassification of breast cancers as well as reveal relations between metabolic and transcriptional levels. See Commentary: http://www.biomedcentral.com/1741-7015/8/7

Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque

Carotid intima media thickness (cIMT) and plaque determined by ultrasonography are established measures of subclinical atherosclerosis that each predicts future cardiovascular disease events. We conducted a meta-analysis of genome-wide association data in 31,211 participants of European ancestry from nine large studies in the setting of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. We then sought additional evidence to support our findings among 11,273 individuals using data from seven additional studies. In the combined meta-analysis, we identified three genomic regions associated with common carotid intima media thickness and two different regions associated with the presence of carotid plaque (P < 5 × 10 -8). The associated SNPs mapped in or near genes related to cellular signaling, lipid metabolism and blood pressure homeostasis, and two of the regions were associated with coronary artery disease (P < 0.006) in the Coronary Artery Disease Genome-Wide Replication and Meta-Analysis (CARDIoGRAM) consortium. Our findings may provide new insight into pathways leading to subclinical atherosclerosis and subsequent cardiovascular events

Lakselusinfestasjon på vill laksefisk langs norskekysten i 2016. Med vekt på modellbasert varsling og tilstandsbekreftelse

Overvåkingsprogrammet for lakselus på vill laksefisk (NALO) ble i 2016 gjennomført med større vekt på prediksjoner fra den hydrodynamiske spredningsmodellen for lakselus. Mange av de undersøkte stasjonene langs kysten ble valgt på bakgrunn av modellerte tettheter av lakseluskopepoditter i vannmassene i de aktuelle områdene. Feltarbeidet i NALO startet 23. mai på Sørlandet og ble avsluttet 12. august i Finnmark. Det ble foretatt pelagisk tråling etter utvandrende laksesmolt i Hardanger fra 1. mai til 12. juni, og i Trondheimsfjorden fra 23. mai til 6. juni. Det øvrige feltarbeidet med ruse/garnfangst av sjøørret ble gjennomført i to perioder på en rekke stasjoner langs hele kysten. Første periode ble gjennomført kort tid etter forventet utvandringstidspunkt for laksesmolt i området, og hadde som mål å kartlegge smittepresset av lakselus i dette tidsrommet. Andre periode ble gjennomført 2-3 uker senere for å fange opp eventuelt smittepress på beitende sjøørret og sjørøye i området. Ved høye nivåer kan lakselus forårsake negativ fysiologisk effekt på fisken. I denne rapporten settes grensen for begynnende negativ effekt ved mer enn 0,1 lus per gram kroppsvekt hos fisken. Spredningsmodellen for frittlevende stadier av lakselus og måten den blir visualisert på er et godt hjelpemiddel i overvåkingen av lakselus på vill laksefisk. Modellen kan identifisere potensielle problemområder med økt smittepress for laksefisk. Samtidig viser den også områdene hvor tettheten av kopepoditter med opphav fra oppdrettsnæringen er lav. Data fra overvåkingsprogrammet viste et varierende smittepress langs kysten under laksesmoltens utvandring våren og forsommeren 2016. På Sørlandet var det lite lus og det forventes liten negativ effekt på vill laksefisk. I Rogaland, Sunnhordland, Hardanger og Nordhordland indikerte data større områder med moderat til høyt smittepress under utvandringsperioden til vill laksesmolt. I disse områdene forventes det derfor en moderat til stor negativ effekt på vill laksefisk. I Sogn og Fjordane og Møre og Romsdal indikerte resultatene områder med moderat smittepress og høyt i enkelte områder, men henholdsvis moderat til stor negativ effekt på laksesmolt. I Sør-Trøndelag viste data fra postsmolttrålingen lave påslag av lakselus på utvandrende laksesmolt. Data fra ruse/garnfiske lenger ut i dette området viste et moderat til høyt påslag av lakselus på sjøørret. Det er derfor sannsynlig at laksesmolten treffer områdene med forhøyet smittepress lenger ute på kysten som ikke fanges opp av trålundersøkelsen i Trondheimsfjorden. Dataene indikerte en sannsynlig negativ effekt for laksesmolt gitt at de passerer de forhøyede modellerte forekomstene av kopepoditter langs kysten i området. I Nord-Trøndelag viser data fra Namsen relativt lite lus, men høyt antall ved Vikna, og det er derfor sannsynlig at lakselus har hatt en moderat negativ effekt på utvandrende laksesmolt fra Namsensystemet. I Nordland, Troms og Finnmark indikerer resultatene liten negativ effekt på utvandrende laksesmolt, moderat i enkelte systemer. Utover sesongen indikerte både modell og data at det mange steder er en betydelig økning i lus. På Sørlandet var det fremdeles lite lus i Kilsfjorden, mens det i Sandnesfjorden hadde økt til et nivå hvor det forventes moderat negativ effekt på fisken. Data fra alle stasjonene i Rogaland indikerer et økt smittepress utover sommeren og en sannsynlig stor negativ effekt. I Sunnhordland og Hardanger økte infestasjonsnivået på sjøørret ytterligere ved flere stasjoner, men avtok noe i midtre og indre delene av Hardangerfjorden. Videre forventes det stor negativ effekt i Nordhordland, moderat til høy i Sogn og Fjordane, mens det i Møre og Romsdal forventes negativ effekt i store områder. I Sør-Trøndelag økte infestasjonen noe, og det forventes fra moderat til høy negativ effekt. I Nord-Trøndelag var det også en økning i lus og det forventes høy negativ effekt på undersøkte stasjoner. I Nordland og Troms var det en økning i lus, og det forventes en moderat til stor negativ effekt på fisken i flere områder. Tilsvarende økning ses på stasjonene i Vest-Finnmark, mens det i Øst-Finnmark forblir lavt

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

Levels of circulating glucose are tightly regulated. To identify new loci influencing glycemic traits, we performed meta-analyses of 21 genome-wide association studies informative for fasting glucose, fasting insulin and indices of beta-cell function (HOMA-B) and insulin resistance (HOMA-IR) in up to 46,186 nondiabetic participants. Follow-up of 25 loci in up to 76,558 additional subjects identified 16 loci associated with fasting glucose and HOMA-B and two loci associated with fasting insulin and HOMA-IR. These include nine loci newly associated with fasting glucose (in or near ADCY5, MADD, ADRA2A, CRY2, FADS1, GLIS3, SLC2A2, PROX1 and C2CD4B) and one influencing fasting insulin and HOMA-IR (near IGF1). We also demonstrated association of ADCY5, PROX1, GCK, GCKR and DGKB-TMEM195 with type 2 diabetes. Within these loci, likely biological candidate genes influence signal transduction, cell proliferation, development, glucose-sensing and circadian regulation. Our results demonstrate that genetic studies of glycemic traits can identify type 2 diabetes risk loci, as well as loci containing gene variants that are associated with a modest elevation in glucose levels but are not associated with overt diabetes

The state of the Martian climate

60°N was +2.0°C, relative to the 1981–2010 average value (Fig. 5.1). This marks a new high for the record. The average annual surface air temperature (SAT) anomaly for 2016 for land stations north of starting in 1900, and is a significant increase over the previous highest value of +1.2°C, which was observed in 2007, 2011, and 2015. Average global annual temperatures also showed record values in 2015 and 2016. Currently, the Arctic is warming at more than twice the rate of lower latitudes