CONCLUSIONS: Children of marginalized mothers used the healthcare system more than other children, except in case of ENT-physicians. They had fewer ENT-consultations and had less frequently inserted tympanostomy tubes when they attended the surgery. Indsendt af: Overlæge Kirsten Fonager, (Socialmedicinsk Enhed, Aalborg Sygehus) Uddannelse: E-mail: k.fonager@rn.dk / Telefon: 4117 4514 Forskningsansvarlig på afdelingen: Kirsten Fonager
when only patients from inpatients clinics, specialized units or when only primary discharge codes were included. Indsendt af: Klinisk assistent Pernille Lühdorf, (Neurologisk Afdeling, Aalborg Sygehus) Uddannelse: Læge E-mail: pelu@rn.dk Forskningsansvarlig på afdelingen: Flemming Winther Bach
C) Decrease in the positive predictive value for stroke in the Danish National Health Registry over time Forfattere: Pernille Lühdorf(a), Kim Overvad(b+c), Erik B Schmidt(b), Søren P Johnsen(c), Flemming W Bach(a). a Department of Neurology, Aalborg Hospital, Aarhus University Hospital, Denmark. b Department of Cardiology, Centre for Cardiovascular Research, Aalborg Hospital, Aarhus University Hospital, Aalborg, Denmark. c Section of Epidemiology, Department of Public Health, Aarhus University, Denmark Abstract: Objective: Investigation of the positive predictive values for stroke and different subtypes of stroke: subarachnoidal haemorrhage, intracerebral haemorrhage and cerebral infarction in then Danish national health registry. Study Design and Settings: Participants in the Danish cohort study “Diet Cancer and Health” with a possible stroke diagnosis between 1994 and 2009 were identified and medical records were retrieved and reviewed. Results: 3326 records with possible strokes were reviewed. The overall positive predictive value for stroke was 69.3% (95% CI 67.7-70.9%). When only primary discharge diagnosis were included the positive predictive value increased to 71.4 (95%CI 69.7-73.0%). A regression model showed that the positive predictive value decreased with 0.8 percent points per year (p<0.001). The positive predictive value differed from 42.8 to 87.8% between departments with the highest value in departments of neurology and the lowest in out patient clinics and emergency rooms. Conclusion: The stroke diagnosis in the Danish National Health Registry is inaccurate. Over the last 15 years the accuracy of stroke diagnosis in the Danish National Health Registry has decreased. This was the case even
D) Implementering af næste generations sekventering (NGS) i cancerdiagnostikken Forfattere: Inge Søkilde Pedersen, Anja Ernst, Henrik Okkels, Poul Henning Madsen, Henrik Bygum Krarup Abstract: NGS muliggør sekventering af hele genomet, exomet eller en række udvalgte gener til en pris og med en hastighed, der åbner mulighed for anvendelse i diagnostikken. I dag anvendes Sanger-sekventering til mutationsscreening for varianter involveret i arvelig cancer. Metoden er begrænset til den kodende del af en afgrænset gruppe gener. Med NGS kan flere gener undersøges på en gang. Desuden vil regulatoriske områder og introns kunne sekventeres. Inden overførsel af vores rutineanalyser til NGS, er det nødvendigt at sikre evnen til at detektere samtlige varianter identificeret med Sanger-sekventering. Til det formål har vi konstrueret en pool af 20 prøver med sjældne genetiske varianter i et af de to BRCA (BReast CAncer) gener. De udvalgte prøver indeholder et repræsentativt udsnit af varianter (enkelt base udskiftninger, deletioner/insertioner af 1-5 baser). Udover de sjældne varianter har prøverne en række polymorfier, blandt andet er alle prøver heterozygote for 13 hyppige polymorfier. Konstruktionen af denne pool muliggør bestemmelse af flere parametre: 1.Evnen til at detektere medfødte genetiske varianter. 2.Fejl-rate på basecalling. 3.Evnen til at detektere genetiske varianter, der findes i >2,5% af de analyserede alleler. Analysen køres på vores to NGS udstyr IonTorrent PGM og SOLiD 5500xl, der har hver sine forcer. Udover at dokumentere anvendeligheden af NGS til mutationsscreening for medfødte mutationer, vil bestemmelsen af fejl-rate og detektionsgrænser give os væsentlig viden i forbindelse med anvendelsen af de to udstyr. F.eks. til detektion af somatiske mutationer i cancervæv, der kan 9