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ey0015.13-6 | How does paediatric endocrinology and diabetes fit in the global initiatives? | ESPEYB15

13.6 Improving pathology and laboratory medicine in low-income and middle-income countries: roadmap to solutions

S Sayed , W Cherniak , M Lawler , SY Tan , W El Sadr , N Wolf , S Silkensen , N Brand , LM Looi , SA Pai , ML Wilson , D Milner , J Flanigan , KA Fleming

To read the full abstract: Lancet 2018; 391(10133):1939-1952See comment on 13.7...

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ey0020.12-5 | Genetics | ESPEYB20

12.5. Perspectives of rare disease experts on newborn genome sequencing

NB Gold , SM Adelson , N Shah , S Williams , SL Bick , ES Zoltick , JI Gold , A Strong , R Ganetzky , AE Roberts , M Walker , AM Holtz , VG Sankaran , O Delmonte , W Tan , IA Holm , JR Thiagarajah , J Kamihara , J Comander , E Place , J Wiggs , RC Green

Brief summary: This survey study addressed the question whether rare disease experts (n=238) would advise genetic neonatal screening for treatable genetic disorders. Most experts (87.9%) agreed that genetic analysis for a limited number of monogenic treatable conditions should be available to all newborns.Newborn screening has been introduced for diagnosing a few treatable congenital disorders at birth in apparently healthy newborns, in order to...

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ey0020.6-7 | Clinical Trials – New Treatments | ESPEYB20

6.7. [¹¹C]metomidate PET-CT versus adrenal vein sampling for diagnosing surgically curable primary aldosteronism: A prospective, within-patient trial

X Wu , R Senanayake , E Goodchild , WA Bashari , J Salsbury , CP Cabrera , G Argentesi , SM O'Toole , M Matson , B Koo , L Parvanta , N Hilliard , V Kosmoliaptsis , A Marker , DM Berney , W Tan , R Foo , CA Mein , E Wozniak , E Savage , A Sahdev , N Bird , K Laycock , I Boros , S Hader , V Warnes , D Gillett , A Dawnay , E Adeyeye , A Prete , AE Taylor , W Arlt , AN Bhuva , F Aigbirhio , C Manisty , A McIntosh , A McConnachie , JK Cruickshank , H Cheow , M Gurnell , WM Drake , MJ Brown

Brief summary: This study validates dexamethasone-suppressed [11C]metomidate positron emission tomography computed tomography (MTO) scanning as a CYP11B2-selective investigation for lateralizing PA.Primary aldosteronism (PA) is the most common single cause of hypertension, accounting for 514% of all cases and 2025% of treatment-resistant hypertension (1, 2). Traditionally, patients with PA are divided equally into ...

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ESPE Yearbook of Paediatric Endocrinology

13.6 Improving pathology and laboratory medicine in low-income and middle-income countries: roadmap to solutions

12.5. Perspectives of rare disease experts on newborn genome sequencing

6.7. [¹¹C]metomidate PET-CT versus adrenal vein sampling for diagnosing surgically curable primary aldosteronism: A prospective, within-patient trial

BiosciAbstracts

ESPE Yearbook of Paediatric Endocrinology

13.6 Improving pathology and laboratory medicine in low-income and middle-income countries: roadmap to solutions

12.5. Perspectives of rare disease experts on newborn genome sequencing

6.7. [11C]metomidate PET-CT versus adrenal vein sampling for diagnosing surgically curable primary aldosteronism: A prospective, within-patient trial

BiosciAbstracts

6.7. [¹¹C]metomidate PET-CT versus adrenal vein sampling for diagnosing surgically curable primary aldosteronism: A prospective, within-patient trial