ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Proc Natl Acad Sci U S A. 2018; 115(28): E6576–E6584.It is accepted that aggressive behavior can be viewed as a strategy by humans and animals to cope with stress, implying that neurobiological mechanisms involved in stress responses should underlie both physiological and pathological aggression (15, 16). The hypothalamic–pituitary–adrenal ...

To read the full abstract: Lancet Haematol. 2019 Jun; 6(6): e306.The St Jude Lifetime (SJLIFE) Cohort is a retrospective cohort of childhood cancer survivors (CCS), who are followed prospectively in order to evaluate long-term health outcomes. This study evaluated chronic health conditions in 980 childhood lymphoblastic leukaemia survivors of the SJLIFE cohort, compared to 272 matched co...

To read the full abstract: Pediatr Diabetes. 2018;19:1471–1480It has been debated whether or not new technologies, in particular the combination of insulin pumps and continuous glucose testing, will improve patient satisfaction and quality of life rather than only metabolic control and risk of microvascular complications. Indeed, the use of continuous subcutaneous insulin infusion (...

To read the full abstract: Nature Medicine 2019; 25(3):507-516.This paper shows that quantitative leptin expression is controlled by redundant cis elements and trans factors that interact with the proximal promoter together with a long noncoding RNA.Friedman’s research group discovered the adipocyte hormone leptin more than 20 years ago. They identified loss o...

N Engl J Med 2019; 10.1056/NEJMoa1903822.DOI: 10.1056/NEJMoa1903822http://www.ncbi.nlm.nih.gov/pubmed/31034184Summary: In a double-blind, randomized, phase 3 trial, 135 overweight and obese adolescents, aged 10 to 17 years with T2DM, were randomly assigned to receive subcutaneous liraglutide (up to 1.8 mg per day) or placebo, bot...

To read the full abstract: Int J Cardiol 2018;272:333–340.Summary: In a multi-center prospective cohort study of 2401 European children, early life exposure to socioeconomic disadvantages, particularly living in low-educated families, having a non-traditional family structure, parental unemployment and the accumulation of >3 disadvantages were associated with higher ris...

To read the full abstract: Diabetes 2017 Aug;66(8):2316-2322Biallelic mutations in the human lipopolysaccharide responsive beige-like anchor (LRBA) gene lead to a primary immunodeficiency known as LRBA deficiency, characterized early-onset hypogammaglobulinemia, severe autoimmune manifestations, enteropathy, lymphoproliferation, and recurrent respiratory tract infections. Neonatal diabetes mellitus (...

To read the full abstract: JAMA 2017 Jun 6;317(21):2207-2225Excessive and insufficient gestational weight gain are associated with adverse pregnancy outcomes, including small for gestational age (SGA), large for gestational age (LGA), macrosomia, cesarean delivery, gestational diabetes mellitus (GDM), preeclampsia, postpartum weight retention, and offspring obesity. The Institute of Medicine (IO...

To read the full abstract: Sci Rep 2017; 16;7:15693SRS is a rare congenital disorder, characterized by intrauterine growth restriction, postnatal growth impairment and a wide range of signs and symptoms such as dysmorphic features, severe feeding difficulties, body asymmetry, and neurodevelopmental delay. The molecular etiology is heterogeneous. Loss of methylation on chromosome 11p1...

To read the full abstract: Front Endocrinol (Lausanne). 2018 Apr 4;9:142Here, Martinez de LaPiscina et.al. investigated gene-gene interactions in 46,XY DSD. GATA4 is known to be associated with 46,XY DSD and has also been described to cause congenital heart defects. The authors characterize 3 individuals with 46,XY DSD, and GATA4 variants; 1 patient with and 2 without congenital heart defects....