Daniela Concolino

TL;DR: The insulin-like growth factors (IGFs; somatomedins) comprise a family of peptides that play important roles in mammalian growth and development and the principal members of this family are IGF1 and IGF2.

TL;DR: There was clinical evidence of a muscular dystrophy–dystroglycanopathy syndrome, supported by deficient O‐mannosylation by muscle immunohistochemistry, in 3 children from 2 families with a severe neurological phenotype.

TL;DR: Next-generation sequencing is a straightforward tool for the identification of disease genes in extended genomic regions on a five-generation inbred Italian family with three siblings affected with Clericuzio-type poikiloderma with neutropenia, a rare autosomal-recessive genodermatosis characterised by poikILoderma, pachyonychia, and chronic neutropania.

TL;DR: While ERT is effective in reducing urinary glycosaminoglycans and liver and spleen volume, cartilaginous organs such as the trachea and bronchi, bones and eyes are poorly impacted by ERT probably due to limited penetration in the specific tissue.

TL;DR: The spectrum of brain and spine MRI abnormalities in Hunter disease is extremely wide and requires a thorough evaluation and WMAs, atrophy/communicating hydrocephalus and spinal stenosis progress over time and might represent possible disease severity markers for new treatment efficacy assessment.