ESPE Yearbook of Paediatric Endocrinology

Endocrinology 163, bqac005. (2022).Abstract: https://pubmed-ncbi-nlm-nih-gov/35041746/In Brief: C-type natriuretic peptide (CNP) is known to stimulate enchondral bone formation, but the distinct cellular pathways and cellular targets are unclear. This study used in vivo and in vitro biosensor systems to identify cGMP-induced activation of PKA as a major effect of CNP with growth promoting e...

J Clin Endocrinol Metab. 2022; 107(1): 150-166. PMID: 34487152https://pubmed.ncbi.nlm.nih.gov/34487152/Brief Summary: This translational study determined the persistent visceral adipose tissue (VAT) transcriptomic alterations and epigenetic fingerprints induced by chronic hypercortisolism in patients with Cushing’s syndrome (CS) and in a reversible CS mouse model....

p.froguel@imperial.ac.uk Diabetes 2022;71:694–705https://doi.org/10.2337/db21-0373Brief Summary: In this observational cross-sectional study in 128 randomly selected young obese adults (BMI 37.2±0.3 kg/m2; age 18.4±0.3 years) from the Severe Obesity in Pakistani Population (SOPP), screening by whole-exome analysis found 3% had ...

J Clin Lipidol. 2021 Sep-Oct;15(5):682-689. PMID: 34593357 doi: 10.1016/j.jacl.2021.09.045Brief summary: This online survey of cardiologists and primary care physicians, conducted by the National Lipid Association, revealed the need to improve awareness, knowledge and treatment of heterozygous familial hypercholesterolemia (HeFH).Comment: HeFH is an autosomal dominan...

Nat Hum Behav. 2022;6(1):97-110. doi: 10.1038/s41562-021-01169-7. PubMed ID: 34413509Brief summary: This cross-sectional study of adults (N=702) aged 58–98 measured cognitive abilities across a range of domains (alerting, orienting and executive inhibitory networks) by use of a computer-based Attention Network Test. In non-linear regression models, while efficiency of the ale...

Nat Metab. 2021;3(11):1552-68. doi: 10.1038/s42255-021-00481-w.PubMed ID: 34697471Brief summary: This study identified a genetic locus on mouse chromosome 17, containing the gene Ndufv2, that controls mitochondrial mass and function in adipose tissue in a sex- and tissue-specific manner. In female mice, Ndufv2 regulated the expression of 89 mitochondrial genes, with invol...

To read the full abstract: J Clin Endocrinol Metab, April 2020, 105(4):e1478–e1488Silver–Russell syndrome (SRS) is a rare condition associated with pre and postnatal growth retardation. The most common causes of SRS are 11p15 ICR1 loss of methylation (LOM) and maternal uniparental disomy of chromosome 7 (mUPD7). Almost all patients with SRS have a history of intrauterine growth retardation (IUGR) and may be born small for gestational a...

To read the full abstract: J Bone Miner Res 2019;34(8):1387–1392.In brief: Cell tracing of the growth plate chondrocytes most adjacent to the perichondrium demonstrate that they transit into the metaphysis and contribute to the pool osteoblasts and reticular stromal cells of the bone marrow during growth in young mice.Commentary: Borderline chondrocytes are the growth plate chondrocytes located as a ...

To read the full abstract: Diabetes Care. 2020;43(2):405–410. doi: https://pubmed.ncbi.nlm.nih.gov/31727688/Here, Gawlik et al. describe the urinary steroid metabolomic profile associated with insulin resistance (IR) as assessed in a cohort of 87 non-syndromic obese children and adolescents.To explore the previously defined novel concept of a disease-spe...

To read the full abstract: Sci Rep. 2020;10(1):3078. doi: 10.1038/s41598-020-59743-4Short summary: This study describes a specific mechanism of reduced bone formation secondary to hyperglycaemia. In hyperglycaemic states, advanced glycation end products (AGEs) downregulate the highly selective magnesium transporter expression of NIPA2 in osteoblasts. This results in ma...