ISSN 1662-4009 (online)

ey0019.13-12 | Diabetes | ESPEYB19

13.12. Approach to diagnosing a pediatric patient with severe insulin resistance in low- or middle-income countries

AA van Heerwaarde , RCW Klomberg , CMA van Ravenswaaij-Arts , HK Ploos van Amstel , Toekoen A , F Jessurun , A Garg , DCM van der Kaay

d.vanderkaay@erasmusmc.nl or abhimanyu.garg@utsouthwestern.edu.J Clin Endocrinol Metab 2021, 106, 3621–3633. doi: 10.1210/clinem/dgab549Brief Summary: This expert perspective proposes that a thorough review of medical history and physical examination is generally sufficient to diagnose ...

ey0020.5-9 | Basic Research | ESPEYB20

5.9. MKRN3 inhibits puberty onset via interaction with IGF2BP1 and regulation of hypothalamic plasticity

L Naule , A Mancini , SA Pereira , BM Gassaway , JR Lydeard , JC Magnotto , HK Kim , J Liang , C Matos , SP Gygi , FT Merkle , RS Carroll , AP Abreu , UB Kaiser

Brief summary: Using human induced pluripotent stem cells as well as transgenic mouse models, this paper shows that MKRN3 could initiate pubertal onset by regulating hypothalamic development and plasticity.The reactivation of GnRH secretion at puberty is thought to result from a loss in inhibitory input together with an increase in transactivation onto GnRH neurons. The main component of this inhibitory tone was incompletely understood until the discover...

ey0021.4-13 | New Perspectives | ESPEYB21

4.13. Saturation genome editing of BAP1 functionally classifies somatic and germline variants

AJ Waters , T Brendler-Spaeth , D Smith , V Offord , HK Tan , Y Zhao , S Obolenski , M Nielsen , R van Doorn , JE Murphy , P Gupta , CF Rowlands , H Hanson , E Delage , M Thomas , EJ Radford , SS Gerety , C Turnbull , JRB Perry , ME Hurles , DJ Adams

Brief Summary: These authors performed exhaustive saturation genome editing (SGE) of BAP1 (BRCA1-associated protein 1), the disruption of which is linked to tumorigenesis and altered neurodevelopment. 18,108 unique variants were characterized, of which 6,196 were found to have abnormal functions. These were then used to evaluate phenotypic associations in the UK Biobank. BAP1 variants were also characterized in a large population-ascertained tumor collection,...

ey0015.10-20 | Prevention | ESPEYB15

10.20 Effect of hydrolyzed infant formula vs conventional formula on risk of T1DM. The TRIGR randomized clinical trial

Writing Group for the TRIGR Study Group , M Knip , HK Åkerblom , E Al Taji , D Becker , J Bruining , L Castano , T Danne , C de Beaufort , HM Dosch , J Dupre , WD Fraser , N Howard , J Ilonen , D Konrad , O Kordonouri , JP Krischer , ML Lawson , J Ludvigsson , L Madacsy , JL Mahon , A Ormisson , JP Palmer , P Pozzilli , E Savilahti , M Serrano-Rios , M Songini , S Taback , Vaarala , NH White , SM Virtanen , R Wasikowa

To read the full abstract: JAMA. 2018;319:38-48Earlier observational studies showed that dietary exposure to complex proteins in newborns and early infants is associated with beta cell autoimmunity and increase the risk for T1DM. Several studies avoiding certain proteins, such as gluten and casein, have been conducted without reducing the risk for T1D in genetically susceptible children. Theref...

ey0019.15-4 | Diabetes | ESPEYB19

15.4. Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study

A Wesolowska-Andersen , CA Brorsson , R Bizzotto , A Mari , A Tura , R Koivula , A Mahajan , A Vinuela , JF Tajes , S Sharma , M Haid , C Prehn , A Artati , MG Hong , PB Musholt , A Kurbasic , F De Masi , K Tsirigos , HK Pedersen , V Gudmundsdottir , CE Thomas , K Banasik , C Jennison , A Jones , G Kennedy , J Bell , L Thomas , G Frost , H Thomsen , K Allin , TH Hansen , H Vestergaard , T Hansen , F Rutters , P Elders , L t'Hart , A Bonnefond , M Canouil , S Brage , T Kokkola , A Heggie , D McEvoy , A Hattersley , T McDonald , H Teare , M Ridderstrale , M Walker , I Forgie , GN Giordano , P Froguel , I Pavo , H Ruetten , O Pedersen , E Dermitzakis , PW Franks , JM Schwenk , J Adamski , E Pearson , MI McCarthy , S Brunak , Consortium ID

Cell Rep Med. 2022;3(1):100477. doi: 10.1016/j.xcrm.2021.100477. PubMed ID: 35106505Brief summary: To explore clinical heterogeneity, this study analyzed baseline visit data on 726 adults with newly diagnosed Type 2 diabetes (T2D) adults and identified in 4 distinct profiles (clusters of phenotypes), which predicted differences in subsequent disease progression and anti-diabetic treatments...

ey0021.8-10 | Important for Clinical Practice | ESPEYB21

8.10. Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert consensus statement

D Taieb , S Nolting , ND Perrier , M Fassnacht , JA Carrasquillo , AB Grossman , R Clifton-Bligh , GB Wanna , ZG Schwam , L Amar , I Bourdeau , RT Casey , J Crona , CL Deal , J Del Rivero , QY Duh , G Eisenhofer , T Fojo , HK Ghayee , AP Gimenez-Roqueplo , AJ Gill , R Hicks , A Imperiale , A Jha , MN Kerstens , RR de Krijger , A Lacroix , I Lazurova , FI Lin , C Lussey-Lepoutre , ER Maher , O Mete , M Naruse , N Nilubol , M Robledo , F Sebag , NS Shah , A Tanabe , GB Thompson , HJLM Timmers , J Widimsky , Jr Young WJ , L Meuter , JWM Lenders , K Pacak

Brief Summary: The management of phaeochromocytomas and paragangliomas in patients with pathogenic variants of succinate dehydrogenase complex iron sulfur subunit B ( SDHD ) gene is complex. An international group of experts performed a critical review of the evidence to produce this consensus statement to assist clinical decision-making.Comment: Pathogenic variants in succinate dehydrogenase complex iron sulfur subunit B ( SDHD ) gene ...