Ricerc@Sapienza

Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic factors that contribute to schizophrenia, in addition to the ~20-fold increased risk conveyed by the 22q11.2 deletion. Using whole-genome sequencing data from 519 unrelated individuals with 22q11.2DS, we conducted genome-wide comparisons of common and rare variants between those with schizophrenia and those with no psychotic disorder at age ≥25 years.

We propose a non-invasive procedure for predicting genotype positive for hypertrophic cardio- myopathy (HCM) in subjects that do not exhibit a left-ventricular wall hypertrophy condition (G+LVH−); the procedure is based on the enhanced analysis of medical imaging from 3D speckle tracking echocardiography (3D-STE). 3D-STE, due to its low quality images, has not been used so far to detect effectively the G+LVH− condition. Here, we post-processed echocardiographic images exploiting the tools of modern shape analysis, and we studied the motion of the left ventricle (LV) during an entire cycle.

Background: The T2238C variant of the atrial natriuretic peptide (ANP) gene has emerged as a novel risk factor for the incidence of cardiovascular events. However, the impact of this variant on cardiovascular outcome in patients with atrial fibrillation (AF) is unknown. Methods: We included 557 anticoagulated patients with non-valvular AF randomly selected from the prospective ATHERO-AF cohort. Patients underwent genetic analysis for the T2238C/ANP variant and were grouped as wild type or heterozygous or homozygous for C2238 variant allele.

Book review

Introduction: Anaplastic thyroid cancer (ATC) is one of the most aggressive human malignancies (representing 15–40% of fatal TC cases), classified as stage IV by the American Joint Committee on Cancer, regardless of tumor size or presence of lymph node and distant metastases. A large number of genetic alterations are associated with ATC, especially causing dysfunctions in the ERK1/2-MEK1/2 and PI3K-AKT signaling pathways (BRAF, p53, RAS, EGFR, VEGFR1, VEGFR2, chromosomal rearrangements, etc). New drugs targeting these molecular pathways have recently been evaluated in ATC.

Abstract
Background: Oxidative stress is responsible for some alterations in the chemical structure and, consequently, in
the function of proteins, lipids, and DNA. Recent studies have linked oxidative stress to cancers, particularly thyroid
cancer, but the mechanisms remain unclear. Here, we further characterize the role of oxidative stress in thyroid cancer
by analyzing the expression of two selenium antioxidant molecules, glutathione peroxidase (GPx1) and thioredoxin
reductase (TrxR1) in thyroid cancer cells.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disease, characterised by the aplasia of vagina and uterus in women with a 46,XX karyotype. Most cases are sporadic, but familial recurrence has also been described. Herein, we investigated an Italian cohort of 36 unrelated MRKH patients to explore the presence of pathogenic copy number variations (CNVs) by array-CGH and MLPA assays. On the whole, aberrations were found in 9/36 (25%) patients.

Network medicine relies on different types of networks: from the molecular level of protein–protein interactions to gene regulatory network and correlation studies of gene expression. Among network approaches based on the analysis of the topological properties of protein–protein interaction (PPI) networks, we discuss the widespread DIAMOnD (disease module detection) algorithm.

Background: Lymphedema is an abnormal accumulation of interstitial fluid within the tissues. Primary lymphedema is caused by aberrant lymphangiogenesis and it has been historically classified based on age at presentation. Although most cases are sporadic, primary lymphedema may be familial or present in association with chromosomal abnormalities and syndromic disorders. To the best of our knowledge, primary lymphedema has never been described in patients with 22q11.2 deletion syndrome.

Congenital heart diseases (CHDs) and cardiovascular abnormalities are one of the pillars of clinical diagnosis of 22q11.2 deletion syndrome (22q11.2DS) and still represent the main cause of mortality in the affected children. In the past 30 years, much progress has been made in describing the anatomical patterns of CHD, in improving their diagnosis, medical treatment, and surgical procedures for these conditions, as well as in understanding the underlying genetic and developmental mechanisms.