ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Horm Res Paediatr. 2018; Jul 26:1-1As the global burden of non-communicable diseases (NCD) is rising to epidemic levels worldwide, efforts are underway to build capacity for childhood NCDs in low- and middle-income countries (LMICs), including among health care providers in pediatric endocrinology. With increased ability to recognize and diagnose pediatric endocrine conditi...

jchanoine@cw.bc.ca BMJ Global Health 2021;6:e007195. doi: 10.1136/bmjgh-2021-007195Brief Summary: This review found that access to oral fludrocortisone and hydrocortisone remains suboptimal in the WHO Eastern Mediterranean Region. Improvement requires a collaboration between health professionals, families of patients, health authorities, pharmaceutica...

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,...