ISSN 1662-4009 (online)

ey0016.6-15 | (New) Hope for Fertility Preservation in Transgender | ESPEYB16

6.15. Fertility preservation for a transgender teenager

L Nahata , LT Campo-Engelstein , A Tishelman , GP Quinn , JD Lantos

Pediatrics. 2018 Sep;142(3). pii: e20173142.doi: 10.1542/peds.2017-3142. PMID:30072573While awaiting a breakthrough in research on in vitro maturation of immature gametes, the best option for transgender youth to secure fertility is to cryopreserve mature sperm, oocytes or gonadal tissue. This often requires postponement or arrest of transitional hormone medi...

ey0020.8-3 | Important for Clinical Practice | ESPEYB20

8.3. What does the licensing of teplizumab mean for diabetes care?

LM Quinn , R Swaby , D Tatovic , P Narendran , REJ Besser , CM Dayan

Brief summary: This commentary discusses the implications of the recent licensing of Teplizumab by the Food and Drug Administration (FDA) as the first immunosuppressant for individuals at risk for type 1 diabetes (T1D).The approval of Teplizumab by the FDA in November 2022, as an intervention to delay the onset of stage 3 T1D (clinical T1D) in adults and children aged 8 or older who have stage 2 T1D (two or more islets autoantibodies and dysglycemia but ...

ey0016.6-3 | New Functions of (Old) Genes | ESPEYB16

6.3. Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

B Croft , T Ohnesorg , J Hewitt , J Bowles , A Quinn , J Tan , V Corbin , E Pelosi , J van den Bergen , R Sreenivasan , I Knarston , G Robevska , DC Vu , J Hutson , V Harley , K Ayers , P Koopman , A Sinclair

Nat Commun. 2018 Dec 14;9(1):5319.doi: 10.1038/s41467-018-07784-9. PubMed [citation] PMID: 30552336Initial steps in the sex determination of the (human) testis depend on SRY regulating SOX9, but the exact mechanism that controls SOX9 expression remains unknown. These authors discovered four overlapping copy number variations (CNVs) upstr...

ey0016.15-11 | (1) | ESPEYB16

15.11. A neural circuit for gut-Induced reward

W Han , LA Tellez , MH Perkins , IO Perez , T Qu , J Ferreira , TL Ferreira , D Quinn , ZW Liu , XB Gao , MM Kaelberer , DV Bohorquez , SJ Shammah-Lagnado , G de Lartigue , IE de Araujo

To read the full abstract: Cell. 2018 Oct 18;175(3):665–678.e23.This article reports a critical role for the vagal gut-to-brain axis in motivation and reward amongst the sensory cells of the right vagal nerve. Optogenetic stimulation of the mouse vagal gut-to-brain axis produced reward behaviors. Stimulation of gut-innervating vagal sensory neurons recapped the hallmark effects of s...

ey0016.8-9 | Clinical Trials - New Treatments | ESPEYB16

8.9. A Randomized Trial of Epinephrine in Out-of-Hospital Cardiac Arrest

GD Perkins , C Ji , CD Deakin , T Quinn , JP Nolan , C Scomparin , S Regan , J Long , A Slowther , H Pocock , JJM Black , F Moore , RT Fothergill , N Rees , L O'Shea , M Docherty , I Gunson , K Han , K Charlton , J Finn , S Petrou , N Stallard , S Gates , R Lall , Collaborators PARAMEDIC2

To read the full abstract: N Engl J Med. 2018; 379(8): 711–721.In attempting to reduce the rate of death and disability associated with cardiac arrest worldwide, emergency medical workers have few effective treatments other than early initiation of cardiopulmonary resuscitation (CPR) and prompt defibrillation. Epinephrine (adrenaline) has potentially beneficial effects in cardiac ar...

ey0020.3-9 | Advances in Clinical Practice | ESPEYB20

3.9. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

M Maghnie , O Semler , E Guillen-Navarro , A Selicorni , KE Heath , G Haeusler , L Hagenas , A Merker , A Leiva-Gea , VL Gonzalez , A Raimann , M Rehberg , F Santos-Simarro , DA Ertl , PA Gregersen , R Onesimo , E Landfeldt , J Jarrett , J Quinn , R Rowell , J Pimenta , S Cohen , T Butt , R Shediac , S Mukherjee , K Mohnike

In Brief: Individuals with achondroplasia carry a lifelong burden of reduced physical and mental health. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) found that, across an individual’s lifetime, achondroplasia is associated with multisystem complications, reduced QoL and functionality, increased pain and increased healthcare resource utilization.Commentary: Individuals with achondroplasia present with a range of clinic...

ey0018.5-12 | Advances in skeletal biology | ESPEYB18

5.12. Osteoclasts recycle via osteomorphs during RANKL-stimulated bone resorption

McDonald Michelle M , Khoo Weng Hua , Ng Pei Ying , Xiao Ya , Zamerli Jad , Thatcher Peter , Kyaw Wunna , Pathmanandavel Karrnan , Grootveld Abigail K , Moran Imogen , Butt Danyal , Nguyen Akira , Corr Alexander , Warren Sean , Biro Mate , Butterfield Natalie C , Guilfoyle Siobhan E , Komla-Ebri Davide , Dack Michael R G , Dewhurst Hannah F , Logan John G , Li Yongxiao , Mohanty Sindhu T , Byrne Niall , Terry Rachael L , Simic Marija K , Chai Ryan , Quinn Julian M W , Youlten Scott E , Pettitt Jessica A , Abi-Hanna David , Jain Rohit , Weninger Wolfgang , Lundberg Mischa , Sun Shuting , Ebetino Frank H , Timpson Paul , Lee Woei Ming , Baldock Paul A , Rogers Michael J , Brink Robert , Williams Graham R , Bassett J H Duncan , Kemp John P , Pavlos Nathan J , Croucher Peter I , Phan Tri Giang

Cell. 2021 Mar 4;184(5):1330–1347.e13 Abstract: https://pubmed.ncbi.nlm.nih.gov/33636130/In brief: This paper reports an alternative cell fate for multinucleated, bone-resorbing osteoclasts and shows that they may undergo fission into smaller osteomorphs. The findings challenge the current dogma that osteoclasts primarily differentiate from hematopoietic progenitor cells and a...