Ricerc@Sapienza

In this paper we describe the case of an 81-year-old Caucasian female (142 cm tall, weighing 45 kg) who suffered from a multinodular goiter for approximately 40 years. Following the onset of a clinical condition characterized by acute respiratory failure, she was transported to the emergency room by ambulance, where she died within a few hours after admission.

We present an integromic analysis of gene alterations that modulate transforming growth factor β (TGF-β)-Smad-mediated signaling in 9,125 tumor samples across 33 cancer types in The Cancer Genome Atlas (TCGA). Focusing on genes that encode mediators and regulators of TGF-β signaling, we found at least one genomic alteration (mutation, homozygous deletion, or amplification) in 39% of samples, with highest frequencies in gastrointestinal cancers. We identified mutation hotspots in genes that encode TGF-β ligands (BMP5), receptors (TGFBR2, AVCR2A, and BMPR2), and Smads (SMAD2 and SMAD4).

The Cancer Genome Atlas (TCGA) cancer genomicsdataset includes over 10,000 tumor-normal exomepairs across 33 different cancer types, in total >400TB of raw data files requiring analysis. Here wedescribe the Multi-Center Mutation Calling in Multi-ple Cancers project, our effort to generate a compre-hensive encyclopedia of somatic mutation calls forthe TCGA data to enable robust cross-tumor-typeanalyses. Our approach accounts for varianceand batch effects introduced by the rapid advance-ment of DNA extraction, hybridization-capture,sequencing, and analysis methods over time.

Although theMYConcogene has been implicated incancer, a systematic assessment of alterations ofMYC, related transcription factors, and co-regulatoryproteins, forming the proximal MYC network (PMN),across human cancers is lacking. Using computa-tional approaches, we define genomic and proteo-mic features associated with MYC and the PMNacross the 33 cancers of The Cancer Genome Atlas.Pan-cancer, 28% of all samples had at least one ofthe MYC paralogs amplified.

Secretin receptor (SR), only expressed by cholangiocytes, plays a key role in the regulation of biliary damage and liver fibrosis. The aim of this study was to determine the effects of genetic depletion of SR in Mdr2−/−mice on intrahepatic biliary mass, liver fibrosis, senescence, and angiogenesis. 12 wk SR−/−, Mdr2−/−, and SR−/−/Mdr2−/−mice with corresponding wild-type mice were used for the in vivo studies.

Endothelial cell (EC) dysfunction has been reported in cystic fibrosis (CF) patients. Thus, the availability of CF EC is
paramount to uncover mechanisms of endothelial dysfunction in CF. Using collagenase digestion, we isolated cells from
small fragments of pulmonary artery dissected from non-CF lobes or explanted CF lungs. These cells were a
heterogeneous mixture, containing variable percentages of EC. To obtain virtually pure pulmonary artery endothelial cells

Anatomical ex-votos of feet have always been interpreted as representing the unhealthy part of the body for which patients were asking healing. However, according to the archaeological data and literary sources, another interpretation is also possible: the purpose of this article is to focus on the strong relationship between feet and fertility in the ancient world by cross-referencing the available archaeological evidence with the scientific data relating to this topic. That shed light on an important aspect of the Healing Temples in Greek and Roman medicine.