ISSN 1662-4009 (online)

ey0019.10-14 | Pathogenesis | ESPEYB19

10.14. An autoimmune stem-like CD8 T cell population drives type 1 diabetes

SV Gearty , F Dundar , P Zumbo , G Espinosa-Carrasco , M Shakiba , FJ Sanchez-Rivera , ND Socci , P Trivedi , SW Lowe , P Lauer , N Mohibullah , A Viale , TP DiLorenzo , D Betel , A Schietinger

Nature 2022;602(7895):156-161. https://pubmed.ncbi.nlm.nih.gov/34847567/Brief Summary: This study used a well-characterized mouse model of type 1 diabetes (T1D), the non-obese diabetic mouse (NOD), to examine the fate of CD8 T cells over the 5–30 week course of the disease. They found a stem-like autoimmune progenitor population in the pancreatic draining lymph nodes, which can self-re...

ey0019.15-5 | Diabetes | ESPEYB19

15.5. Trends in prevalence of type 1 and type 2 diabetes in children and adolescents in the US, 2001-2017

JM Lawrence , J Divers , S Isom , S Saydah , G Imperatore , C Pihoker , SM Marcovina , EJ Mayer-Davis , RF Hamman , L Dolan , D Dabelea , DJ Pettitt , AD Liese , Group SfDiYS

JAMA. 2021;326(8):717-27. doi: 10.1001/jama.2021.11165.PubMed ID: 34427600Brief summary: This large repeated cross-sectional study identified all individuals aged <20 years with physician-diagnosed diabetes in 6 areas in the US in 2001, 2009, and 2017. Over these 16 years, the prevalence of Type 1 diabetes (T1D) increased by 45% (95% CI, 40%–50%) and the prevalence of Type 2 diabetes...

ey0017.1-1 | Update on the Genetics of Hypopituitarism | ESPEYB17

1.1. Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation

LC Gregory , CB Ferreira , SK Young-Baird , HJ Williams , M Harakalova , G van Haaften , SA Rahman , C Gaston-Massuet , D Kelberman , Sgene GO , W Qasim , SA Camper , TE Dever , P Shah , ICAF Robinson , MT Dattani

To read the full abstract: EBioMedicine. 2019 Apr;42:470–480. doi: 10.1016/j.ebiom.2019.03.013. Epub 2019 Mar 14. PMID: 30878599.Is everyone familiar with the MEHMO syndrome (OMIM #300148)? MEHMO is an acronym for mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. Previous studies show that patients with MEHMO carrying hemizygous se...

ey0017.1-3 | Update on the Genetics of Hypopituitarism | ESPEYB17

1.3. Mutations in LAMB2 are associated with albuminuria and optic nerve hypoplasia with hypopituitarism

Tahoun Mona , Chandler Jennifer C , Ashton Emma , Haston Scott , Hannan Athia , Kim Ji Soo , D’Arco Felipe , Bockenhauer D , Anderson G , Lin Meei-Hua , Marzouk Salah , Saied Marwa H , Miner Jeffrey H , Dattani Mehul T , Waters Aoife M

To read the full abstract: J Clin Endocrinol Metab. 2020 Mar 1;105(3). pii: dgz216. doi: 10.1210/clinem/dgz216. PMID: 31769495.Septo-optic dysplasia (SOD) involves a combination of midline brain defects, pituitary hormone deficiency, and optical nerve hypoplasia. The etiology of SOD is multifaceted; genetic factors are known to play a role, yet the vast majority of SOD patients remain withou...

ey0017.2-10 | Neonatal Diabetes Mellitus | ESPEYB17

2.10. The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the State of Qatar

S Al-Khawaga , I Mohammed , S Saraswathi , B Haris , R Hasnah , A Saeed , H Almabrazi , N Syed , P Jithesh , A El Awwa , A Khalifa , F AlKhalaf , G Petrovski , EM Abdelalim , K Hussain

To read the full abstract: Mol Genet Genomic Med., 2019 Oct;7(10):e00753. doi: 10.1002/mgg3.753. Epub 2019 Aug 23. PMID: 31441606The unique population in the State of Qatar comprises over 2.6 million people who derived primarily from the Middle East and North Africa (MENA) and South Asia regions. Around 15% are indigenous Qataris of Arabian Peninsula ancestries, who have also immigrated to the St...

ey0017.4-13 | New paradigms | ESPEYB17

4.13. IGF1-mediated human embryonic stem cell self-renewal recapitulates the embryonic niche

SE Wamaitha , KJ Grybel , G Alanis-Lobato , C Gerri , S Ogushi , A AMcCarthy , SK Mahadevaiah , L Healy , RA Lea , M Molina-Arcas , LG Devito , K Elder , P Snell , L Christie , J Downward , JMA Turner , KK Niakan

To read the full abstract: Nat Commun. 2020 Feb 7;11(1):764.The signaling pathways involved in the regulation of early human development are largely unknown and the IGF system has been proposed to play a major role (1). The knowledge of mechanisms and actors involved in early life development is crucial to develop successful strategies for maintaining pluripotent human embryonic stem cells (hESCs).This sophisticated study ...

ey0017.6-3 | Differences/Disorders of Sex Development: A DSDnet Pape | ESPEYB17

6.3. Peptide hormone analysis in diagnosis and treatment of differences of sex development: Joint position paper of EU COST action ‘DSDnet’ and european reference network on rare endocrine conditions

TH Johannsen , AM Andersson , SF Ahmed , YB de Rijke , RF Greaves , MF Hartmann , O Hiort , PM Holterhus , NP Krone , A Kulle , ML Ljubicic , G Mastorakos , J McNeilly , AM Pereira , A Saba , SA Wudy , KM Main , A Juul

To read the full abstract: Eur J Endocrinol. 2020, Jun; 182: P1–p15; doi: https://eje.bioscientifica.com/downloadpdf/journals/eje/182/6/EJE-19-0831.pdfDiagnosis and monitoring of therapies for DSD patients require clinical, biochemical and genetic assessments. Biochemical analyses comprise the measurements of peptide and steroid hormones. This positi...

ey0017.7-9 | Basic Science | ESPEYB17

7.9. The dynamic transcriptional cell atlas of testis development during human puberty

J Guo , X Nie , M Giebler , H Mlcochova , Y Wang , EJ Grow , Connect Donor , R Kim , M Tharmalingam , G Matilionyte , C Lindskog , DT Carrell , RT Mitchell , A Goriely , JM Hotaling , BR Cairns

To read the full abstract: Cell Stem Cell vol. 26,2 (2020): 262–276.e4. doi: https://www.sciencedirect.com/science/article/pii/S1934590919305235?via%3DihubThis paper describes a transcriptional analysis of human spermatogonial stem cells during puberty and the involvement of testosterone in Sertoli cell maturation.The...

ey0017.11-13 | Pharmacologic Treatment | ESPEYB17

11.13. Metformin-induced increases in GDF15 are important for suppressing appetite and promoting weight loss

EA Day , RJ Ford , BK Smith , P Mohammadi-Shemirani , MR Morrow , RM Gutgesell , R Lu , AR Raphenya , M Kabiri , AG McArthur , N McInnes , S Hess , G Pare , HC Gerstein , GR Steinberg

To read the full abstract: Nat Metab 2019;1:1202–1208.Metformin has become a mainstay in the treatment of T2DM in over six decades of clinical use and is today one of the world’s most commonly prescribed drugs. Anti-diabetic properties of metformin rely on an inhibition of hepatic glucose output through AMPK-dependent, but also AMPK-independent effects (reviewed in (1)). Neverthel...

ey0017.15-1 | (1) | ESPEYB17

15.1. Preconception diabetes mellitus and adverse pregnancy outcomes in over 6.4 million women: A population-based cohort study in China

Y Wei , Q Xu , H Yang , Y Yang , L Wang , H Chen , C Anderson , X Liu , G Song , Q Li , Q Wang , H Shen , Y Zhang , D Yan , Z Peng , Y He , Y Wang , Y Zhang , H Zhang , X Ma

To read the full abstract: PLoS Med. 2019 Oct 1;16(10):e1002926. doi: 10.1371/journal.pmed.1002926.The authors analysed a huge dataset from the Chinese national programme of preconception health checks, which include measurements of fasting plasma glucose. Overall, 13.15% (n =847,737) had impaired fasting glucose and 1.18% (n =76,297 women) had diabetes, of whom only...