Background/aimsCongenital hyperinsulinism (CHI) is a heterogeneous disease most frequently caused by KATP-channel (ABCC8 and KCNJ11) mutations, with neonatal or later onset, variable severity, and with focal or diffuse pancreatic involvement as the two major histological types. CHI confers a high risk of neurological impairment; however, sparsely studied in larger patient series. We assessed the neurodevelopmental outcome in children with CHI at follow-up in a mixed international cohort.MethodsIn two hyperinsulinism expert centers, 75 CHI patients were included (Russian, n = 33, referred non-Scandinavian, treated in Denmark n = 27, Scandinavian, n = 15). Hospital files were reviewed. At follow-up, neurodevelopmental impairment and neurodevelopmental, cognitive and motor function scores were assessed.ResultsMedian (range) age at follow-up was 3.7 years (3.3 months–18.2 years). Neurodevelopmental impairment was seen in 35 (47%). Impairment was associated with abnormal brain magnetic resonance imaging (MRI); odds ratio (OR) (95% CI) 15.0 (3.0–74.3), p = 0.001; lowest recorded blood glucose ≤1 mmol/L; OR 3.8 (1.3–11.3), p = 0.015, being non-Scandinavian patient, OR 3.8 (1.2–11.9), p = 0.023; and treatment delay from first symptom to expert center >5 days; OR 4.0 (1.0–16.6), trend p = 0.05. In multivariate analysis (n = 31) for early predictors with exclusion of brain MRI, treatment delay from first symptom to expert center >5 days conferred a significantly increased risk of neurodevelopment impairment, adjusted OR (aOR) 15.6 (1.6–146.7), p = 0.016, while lowest blood glucose ≤1 mmol/L had a trend toward increased risk, aOR 3.5 (1.1–14.3), p = 0.058. No associations for early vs. late disease onset, KATP-channel mutations, disease severity, focal vs. diffuse disease, or age at follow-up were seen in uni- or multivariate analysis.ConclusionNot only very low blood glucose, but also insufficient treatment as expressed by delay until expert center hospitalization, increased the risk of neurodevelopmental impairment. This novel finding calls for improvements in spread of knowledge about CHI among health-care personnel and rapid contact with an expert CHI center on suspicion of CHI.

PurposeFocal congenital hyperinsulinism (CHI) is curable by surgery, which is why identification of the focal lesion is crucial. We aimed to determine the use of 18F–fluoro-dihydroxyphenylalanine (18F-DOPA) PET/CT vs. 68Ga-1,4,7,10-tetraazacyclododecane-1,4,7,10-tetraacetic-acid-1-Nal3-octreotide (68Ga-DOTANOC) PET/CT as diagnostic tools in focal CHI.MethodsPET/CT scans of children with CHI admitted to Odense University Hospital between August 2005 and June 2016 were retrospectively evaluated visually and by their maximal standardized uptake values (SUVmax) by two independent examiners, blinded for clinical, surgical and pathological data. Pancreatic histology was used as the gold standard. For patients without surgery, the genetic profile served as the gold standard.ResultsFifty-five CHI patients were examined by PET/CT (18F-DOPA n = 53, 68Ga-DOTANOC n = 18). Surgery was performed in 34 patients, no surgery in 21 patients. Fifty-one patients had a classifiable outcome, either by histology (n = 33, 22 focal lesions, 11 non-focal) or by genetics (n = 18, all non-focal). The predictive performance of 18F-DOPA PET/CT to identify focal CHI was identical by visual- and cut-off-based evaluation: sensitivity (95% CI) of 1 (0.85–1); specificity of 0.96 (0.82–0.99). The optimal 18F-DOPA PET SUVmax ratio cut-off was 1.44 and the optimal 68Ga-DOTANOC PET SUVmax cut-off was 6.77 g/ml. The area under the receiver operating curve was 0.98 (0.93–1) for 18F-DOPA PET vs. 0.71 (0.43–0.95) for 68Ga-DOTANOC PET (p < 0.03). In patients subjected to surgery, localization of the focal lesion was correct in 91%, and 100%, by 18F-DOPA PET/CT and 68Ga-DOTANOC PET/CT, respectively.Conclusion18F-DOPA PET/CT was excellent in predicting focal CHI and superior compared to 68Ga-DOTANOC PET/CT. Further use of 68GA-DOTANOC PET/CT in predicting focal CHI is discouraged.Electronic supplementary materialThe online version of this article (10.1007/s00259-017-3867-1) contains supplementary material, which is available to authorized users.

Baggrund: I 2018 blev akutmedicin et selvstændigt speciale (1). Målbeskrivelsen er udarbejdet af sundhedsstyrelsen (SST), Dansk Selskab for Akutmedicin (DASEM) og en række andre specialer. Dernæst er kompetencekortene til de 9 kompetencer udarbejdet af DASEM (2). De uddannelsesansvarlige overlæger har lokalt udarbejdet uddannelsesprogrammer, som definerer hvordan de 9 kompetencer opnås i hver enkelt akutafdeling. Andre specialer har god erfaring med at supplerer med specifikke færdighedskort som fx kan benyttes til at superviser praktiske kliniske procedurer.   Formål: Yngre Danske Akutmedicinere (YDAM) afviklede i marts 2019 første nationale uddannelsesdag. Formålet med dagen var at erfaringsudveksle på tværs af hospitaler samt samle input til DASEM med henblik på revision af målbeskrivelsen, kompetencekort samt udarbejdelse af nye færdighedskort.    Metode: Der blev afholdt et endags seminar for alle uddannelseslæger og uddannelsesansvarlige overlæger i akutmedicin. Dagen bestod af gruppearbejde, hvor målbeskrivelsen, kompetencekort og uddannelsesprogrammer blev gennemgået kritisk og der blev opstillet forslag til evt. forbedringstiltag.   Resultat: Der var 36 deltagere på uddannelsesdagen, heraf 9 overlæger og 27 uddannelseslæger.  Der var bred deltagelse på dagen med uddannelseslæger fra alle regioner men ikke alle 21 akutsygehuse. Alle kom med input til forbedring af målbeskrivelse og kompetencekort. Dette blev samlet i et fælles dokument. Der blev opstillet 14 forslag til nye færdighedskort.   Konklusion: Uddannelsesdagen klarlagde at der blandt yngre læger og uddannelsesansvarlige overlæger er et ønske om at uddannelsesmaterialet opdateres for at forbedre den akutmedicinske introduktionsuddannelse. For at øge det faglige niveau, ønskede deltagerne bl.a opdatering af kompetencekort samt nye færdighedskort. De akutmedicinske læger som har grundlagt DK-AKUT, er allerede i gang med dette arbejde og man bør i samarbejde med dem opdaterer kompetencekort og færdighedskort efter international standard.