No abstract

Array comparative genomic hybridization (aCGH) is a powerful genetic tool that has enabled the identification of novel imbalances in individuals with intellectual disability (ID), autistic disorders and congenital malformations. Here we report a 'genotype first' approach using aCGH on 13 unrelated patients with 19p13.3 submicroscopic rearrangement (11 deletions and 2 duplications) and review cases in the literature and in public databases. Shared phenotypic features suggest that these patients represent an interstitial microdeletion/microduplication syndrome at 19p13.3. Common features consist of abnormal head circumference in most patients (macrocephaly with the deletions and microcephaly with the duplications), ID with developmental delay (DD), hypotonia, speech delay and common dysmorphic features. The phenotype is associated with at least a~0.113 Mb critical region harboring three strong candidate genes probably associated with DD, ID, speech delay and other dysmorphic features: MAP2K2, ZBTB7A and PIAS4, an E3 ubiquitin ligase involved in the ubiquitin signaling pathways, which we hypothesize for the first time to be associated with head size in humans.

In addition to providing sensory stimuli, usually taste, smell and sight, olive oil contains a range of minor components, mostly phenolic in nature. These components are endowed with pharmacological or pharma‐nutritional properties that are the subject of active research worldwide. Based on our more than 25 years of experience in this field, we critically focus on what we believe are the most pharmacologically prominent actions of the constituents of olive oil. Most of the effects are due to the phenolic compounds in extra virgin olive oil, such as hydroxytyrosol and oleocanthal (which are often mis‐categorized as in vivo antioxidants) and concern the cardiovascular system. Other potentially beneficial activities are still to be investigated in depth. We conclude that—in the context of a proper diet that includes high‐quality products—the use of high‐quality olive oil contributes to achieving and sustaining overall health. Linked Articles This article is part of a themed section on The Pharmacology of Nutraceuticals. To view the other articles in this section visit http://onlinelibrary.wiley.com/doi/10.1111/bph.v177.6/issuetoc