Ricerc@Sapienza

The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%–70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have congenital heart disease, mostly of the conotruncal type (CTD), whereas others have normal cardiac anatomy. In this study, we tested whether variants in the hemizygous LCR22A-D region are associated with risk for CTDs on the basis of the sequence of the 22q11.2 region from 1,053 22q11.2DS individuals.

In Europe in 1918, influenza spread through Spain, France, Great Britain and Italy, causing havoc with military operations during the First World War. The influenza pandemic of 1918 killed more than 50 million people worldwide. In addition, its socioeconomic consequences were huge. "Spanish flu", as the infection was dubbed, hit different agegroups, displaying a so-called "W-trend", typically with two spikes in children and the elderly. However, healthy young adults were also affected.

STUDY QUESTION: What are the consequences of ageing on human Leydig cell number and hormonal function? SUMMARY ANSWER: Leydig cell number significantly decreases in parallel with INSL3 expression and Sertoli cell number in aged men, yet the in vitro Leydig cell androgenic potential does not appear to be compromised by advancing age. WHAT IS KNOWN ALREADY: There is extensive evidence that ageing is accompanied by decline in serum testosterone levels, a general involution of testis morphology and reduced spermatogenic function.

In recent years, the number of smartphone users has exploded worldwide and downloads of applications for these phones have increased significantly. The purpose of this article is to present a review of the literature on the use of smartphone applications to improve sexual health, suggesting how they can be used in sex education, counselling and therapy ; the use of smartphone applications to provide sexual health information, particularly to younger populations, could increase awareness of risky sexual behaviours before first sexual intercourse.

Originally described as interpatient variability, tumour heterogeneity has now been demonstrated to occur intrapatiently, within the same lesion, or in different lesions of the same patient. Tumour heterogeneity involves both genetic and epigenetic changes. Intrapatient heterogeneity is responsible for generating subpopulations of cancer cells which undergo clonal evolution with time. Tumour heterogeneity develops also as a consequence of the selective pressure imposed by the immune system.

Disease cardiology and cardiovascular medicine

Skeletal muscle possesses an outstanding capacity to regenerate upon injury due to the adult muscle stem cells (MuSCs) activity. This ability requires the proper balance between MuSCs expansion and differentiation which is critical for muscle homeostasis and contributes, if deregulated, to muscle diseases. Here, we functionally characterize a novel chromatin-associated lncRNA, Lnc-Rewind, which is expressed in murine MuSCs and conserved in human.

Background: Advanced-stage thymic tumors infiltrating the superior vena cava (SVC), when radically resectable, can be surgically treated by SVC prosthetic replacement within a multimodality therapeutic approach. We hereby present our series of patients undergoing SVC resection and prosthetic reconstruction for stage III or IV thymic malignancies.

Laparoscopic Pancreatic Resections