ESPE Yearbook of Paediatric Endocrinology

Proc Natl Acad Sci U S A. 2021 Nov 9;118(45):e2109721118. doi: 10.1073/pnas.2109721118. PMID: 34732576.Brief Summary: In a mouse model of KATP neonatal diabetes mellitus, this study examined the mechanisms of cognitive deficits and development delay observed in some patients with this form of diabetes. The cognitive deficits and development delay appeared to be independent of the diabetes per...

To read the full abstract: Science 2017;357:1282-1287This Neanderthal boy died 49,000 years ago from an unknown cause at a dental age of 7.7 years. Most of his bones agreed with this estimation. The authors claim that his general pattern of growth was like that of modern humans, except that the atlas and mid-thoracic vertebrae matured later and remained at the 5-6-year stage of deve...

Brief summary: This commentary focuses on the barriers and opportunities of digital systems with regards to diabetes care in resource-limited settings. It highlights the importance of developing context-specific and cost-effective models of efficient, integrated, and organised diabetes care delivery.This commentary builds on a more general article on the potential of digital health interventions (1). It focuses on the opportunities for better diabetes ca...

Brief summary: This survey study addressed the question whether rare disease experts (n=238) would advise genetic neonatal screening for treatable genetic disorders. Most experts (87.9%) agreed that genetic analysis for a limited number of monogenic treatable conditions should be available to all newborns.Newborn screening has been introduced for diagnosing a few treatable congenital disorders at birth in apparently healthy newborns, in order to...

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...

Brief summary: This study used a Delphi approach to generate consensus guidelines for screening of asymptomatic childhood cancer survivors for thyroid dysfunction and recommendations for the management of abnormal thyroid screening results.A Delphi panel of 40 clinical experts (oncologists, endocrinologists, and primary care physicians) participated in three rounds of anonymous questionnaires, formatted as clinical scenarios. Consensus was defined by agr...