ISSN 1662-4009 (online)

ey0021.4-2 | Important for Clinical Practice | ESPEYB21

4.2. The impact of prenatal alcohol exposure on longitudinal growth, nutritional status, and insulin-like growth factor 1 in early childhood in Leyte, the Philippines

CV Barry , SA Chrysanthopoulou , V Tallo , B Jarilla , Z Vargas , E McDonald , F Gundogan , JF Friedman

Brief Summary: This longitudinal study describes the long-term effects of prenatal alcohol exposure on early childhood development. The results clearly show that prenatal alcohol exposure impairs growth and IGF-1 levels in children, highlighting the need for public health interventions to prevent alcohol consumption during pregnancy, especially in low-resource settings.This study assessed the long-term consequences of prenatal alcohol exposure (PAE) on e...

ey0021.4-8 | New Paradigms | ESPEYB21

4.8. Verapamil prevents decline of IGF-I in subjects with type 1 diabetes and promotes [beta]-cell IGF-I signaling

G Xu , J Chen , B Lu , P Sethupathy , WJ Qian , A Shalev

Brief Summary: This study examined the potential benefits of Verapamil, a calcium channel blocker traditionally used to treat hypertension, in Type 1 Diabetes (T1D). It shows that Verapamil can prevent the decline of Insulin-like Growth Factor I (IGF-I) levels, which are crucial for β-cell survival and insulin production. Moreover, Verapamil reduced the expression of IGF-binding protein 3 (IGFBP3), enhancing IGF-I signaling and protecting β-cells from apoptosis. Henc...

ey0021.10-4 | Important for Clinical Practice | ESPEYB21

10.4. Demographic, clinical, management, and outcome characteristics of 8,004 young children with type 1 diabetes

JL Sandy , SR Tittel , S Rompicherla , B Karges , S James , N Rioles , et al.

Brief Summary: This observational study highlights the challenges of managing T1D in 8,004 young children with type 1 diabetes (T1D) (age < 6 years) from 3 international registries: Diabetes Prospective Follow-Up Registry (DPV), T1D Exchange Quality Improvement Network (T1DX-QI), and the Australasian Diabetes Data Network (ADDN), using data collected between 2019 and 2021. More than half of included children did not achieve the recommended HbA1c target < 7.0% (53 mmol/...

ey0021.14-3 | Basic Biology and Molecular Mechanisms | ESPEYB21

14.3. The RNA secondary structure of androgen receptor-FL and V7 transcripts reveals novel regulatory region

Rouse Warren B. , Tompkins Van S. , O'Leary Collin A. , Moss Walter N.

Brief Summary:This basic research study examined post-transcriptional regulation of the human androgen receptor (AR) using three different human cell lines. The authors studied the structure of two key AR isoforms, full length (AR-FL) and truncated (AR-V7), by computational and experimental analyses and revealed novel insights into the functionally relevant structures in the 5′ and 3′ UTRs of AR-FL for AR expression.The AR plays important rol...

ey0018.3-14 | Clinical studies | ESPEYB18

3.14. Identification of resistance to exogenous thyroxine in humans

N Lacamara , B Lecumberri , B Barquiel , A Escribano , I Gonzalez-Casado , C Alvarez-Escola , F Aleixandre-Blanquer , F Morales , R Alfayate , MC Bernal-Soriano , R Miralles , I Yildirim Simsir , AG Ozgen , J Bernal , P Berbel , JC Moreno

Thyroid. 2020;30:1732–1744. doi: 10.1089/thy.2019.0825.This study is of importance, revealing a relevant clinical problem in patients under long-term levothyroxine (LT4) substitution and challenging the concept that all hypothyroid patients can be well controlled with LT4 monotherapy.Lacámara et al. present a small but elegant clinical study describi...

ey0018.5-11 | Translational highlights | ESPEYB18

5.11. Crtap and p3h1 knock out zebrafish support defective collagen chaperoning as the cause of their osteogenesis imperfecta phenotype

Tonelli F , Cotti S , Leoni L , Besio R , Gioia R , Marchese L , Giorgetti S , Villani S , Gistelinck C , Wagener R , Kobbe B , Fiedler I A K , Larionova D , Busse B , Eyre D , Rossi A , Witten P E , Forlino A

Matrix Biol. 2020 Aug;90:40–60 Abstract: https://pubmed.ncbi.nlm.nih.gov/32173581/In brief: Mutations in 3-hydroxylation complex genes CRTAP and P3H1 cause osteogenesis imperfecta type VII and VIII, respectively. However, the pathogenic mechanism by which these mutations cause disease remains unclear. This study points to a defective chaperone role of the 3-h...

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...

ey0016.8-11 | New Genes | ESPEYB16

8.11. Susceptibility to corticosteroid-induced adrenal suppression: a genome-wide association study

DB Hawcutt , B Francis , DF Carr , AL Jorgensen , P Yin , N Wallin , N O'Hara , EJ Zhang , KM Bloch , A Ganguli , B Thompson , L McEvoy , M Peak , AA Crawford , BR Walker , JC Blair , J Couriel , RL Smyth , M Pirmohamed

To read the full abstract: Lancet Respir Med. 2018; 6(6): 442–450.Inhaled corticosteroids (ICS) are widely used by patients with asthma or chronic obstructive pulmonary disease (COPD). Although ICS are generally well tolerated and have fewer systemic adverse effects than oral corticosteroids, some patients develop systemic adverse effects. Adrenal suppression is a clinically i...

ey0016.13-13 | Growth and Nutrition | ESPEYB16

13.13. Independent and combined effects of improved water, sanitation, and hygiene, and improved complementary feeding, on child stunting and anaemia in rural Zimbabwe: a cluster-randomised trial

JH Humphrey , MNN Mbuya , R Ntozini , LH Moulton , RJ Stoltzfus , NV Tavengwa , K Mutasa , F Majo , B Mutasa , G Mangwadu , CM Chasokela , A Chigumira , B Chasekwa , LE Smith , JM Tielsch , AD Jones , AR Manges , JA Maluccio , AJ Prendergast

Lancet Glob Health 2019;7: e132–47. DOI: 10.1093/cid/civ844• This cluster-randomised, community-based trial investigates whether the combination of a water, sanitation and hygiene (WASH) intervention and of improved infant and young child feeding (IYCF) intervention improves stunting and anemia in children living in rural Zimbabwe.• Stunting decreased with ...

ey0015.8-6 | Important for Clinical Practice | ESPEYB15

8.6 Susceptibility to corticosteroid-induced adrenal suppression: a genome-wide association study

DB Hawcutt , B Francis , DF Carr , AL Jorgensen , P Yin , N Wallin , N O'Hara , EJ Zhang , KM Bloch , A Ganguli , B Thompson , L McEvoy , M Peak , AA Crawford , BR Walker , JC Blair , J Couriel , RL Smyth , M Pirmohamed

To read the full abstract: Lancet Respir Med. 2018 Mar 15. pii: S2213-2600(18)30058-4Inhaled corticosteroids (ICS) are recommended for adults and children with asthma, as well as for chronic obstructive pulmonary disease (COPD). Although ICS are generally well-tolerated and have fewer systemic adverse effects than oral corticosteroids, some patients still develop systemic adverse effects....