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8.12. Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma

L Ben Aim , P Pigny , LJ Castro-Vega , A Buffet , L Amar , J Bertherat , D Drui , I Guilhem , E Baudin , C Lussey-Lepoutre , C Corsini , G Chabrier , C Briet , L Faivre , C Cardot-Bauters , J Favier , AP Gimenez-Roqueplo , N Burnichon

To read the full abstract: J Med Genet. 2019 Mar 15. pii: jmedgenet-2018-105714. [Epub ahead of print].Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumours that can arise either from the adrenal medulla (pheochromocytomas, PCC) or from extra-adrenal paraganglia (paragangliomas, PGL). PPGLs are considered to be the most heritable of human tumours with at least...

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ey0015.10-4 | Continuous glucose monitoring, insulin pumps and artificial pancreas | ESPEYB15

10.4 Revisiting the relationships between measures of glycemic control and hypoglycemia in Continuous Glucose Monitoring Data Sets

M Gimenez , AJ Tannen , M Reddy , V Moscardo , I Conget , N Oliver

To read the full abstract: Diabetes Care. 2018;41:326-332The question whether or not T1DM patients with low HbA1c levels, which are thought to characterize good metabolic control, in fact experience hypoglycemia and most importantly severe hypoglycemia more frequently than T1DM patients with high HbA1c levels and hence worse metabolic control has been discussed controversially. However, it is commonl...

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ey0018.8-7 | Important for Clinical Practice | ESPEYB18

8.7. Targeted metabolomics as a tool in discriminating endocrine from primary hypertension

Z Erlic , P Reel , S Reel , L Amar , A Pecori , CK Larsen , M Tetti , C Pamporaki , C Prehn , J Adamski , A Prejbisz , F Ceccato , C Scaroni , M Kroiss , MC Dennedy , J Deinum , K Langton , P Mulatero , M Reincke , L Lenzini , AP Gimenez-Roqueplo , G Assie , A Blanchard , MC Zennaro , E Jefferson , F Beuschlein

J Clin Endocrinol Metab. 2021 Mar 25;106(4):11111128.https://pubmed.ncbi.nlm.nih.gov/33382876/In this multicentre patient cohort study, the authors investigated the use of targeted metabolomics to discriminate primary hypertension (PHT) from endocrine forms of hypertension (EHT). They identified 16 metabolites that help to discriminate between PHT and EHT.Arteri...

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ey0018.11-3 | New hope: Increased diagnostic yield for disease causing MC4R variants and pharmacological treatment options | ESPEYB18

11.3. Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation

B Brouwers , EM de Oliveira , M Marti-Solano , FBF Monteiro , SA Laurin , JM Keogh , E Henning , R Bounds , CA Daly , S Houston , V Ayinampudi , N Wasiluk , D Clarke , B Plouffe , M Bouvier , MM Babu , IS Farooqi , J Mokrosiński

J Cell Rep. 2021 Mar 23;34(12):108862. 10.1016/j.celrep.2021.108862. https://pubmed.ncbi.nlm.nih.gov/33761344/This study demonstrates that MC4R variants found in humans affect receptor endocytosis, trafficking and dimerization and thus reveal multiple cellular mechanisms involved in weight regulation. The findings contributes to our und...

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ESPE Yearbook of Paediatric Endocrinology

8.12. Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma

10.4 Revisiting the relationships between measures of glycemic control and hypoglycemia in Continuous Glucose Monitoring Data Sets

8.7. Targeted metabolomics as a tool in discriminating endocrine from primary hypertension

11.3. Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation

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