Multiple endocrine neoplasias type 2B and RET proto-oncogene

Multiple Endocrine Neoplasia type 2B (MEN 2B) is an autosomal dominant complex oncologic neurocristopathy including medullary thyroid carcinoma, pheochromocytoma, gastrointestinal disorders, marphanoid face, and mucosal multiple ganglioneuromas. Medullary thyroid carcinoma is the major cause of mortality in MEN 2B syndrome, and it often appears during the first years of life. RET proto-oncogene germline activating mutations are causative for MEN 2B. The 95% of MEN 2B patients are associated with a point mutation in exon 16 (M918/T). A second point mutation at codon 883 has been found in 2%-3% of MEN 2B cases. RET proto-oncogene is also involved in different neoplastic and not neoplastic neurocristopathies. Other RET mutations cause MEN 2A syndrome, familial medullary thyroid carcinoma, or Hirschsprung's disease. RET gene expression is also involved in Neuroblastoma. The main diagnosis standards are the acetylcholinesterase study of rectal mucosa and the molecular analysis of RET. In our protocol the rectal biopsy is, therefore, the first approach. RET mutation detection offers the possibility to diagnose MEN 2B predisposition at a pre-clinical stage in familial cases, and to perform an early total prophylactic thyroidectomy. The surgical treatment of MEN 2B is total thyroidectomy with cervical limphadenectomy of the central compartment of the neck. When possible, this intervention should be performed with prophylactic aim before 1 year of age in patients with molecular genetic diagnosis. Recent advances into the mechanisms of RET proto-oncogene signaling and pathways of RET signal transduction in the development of MEN 2 and MTC will allow new treatment possibilities

The PROSPECT Reactor Antineutrino Experiment

The Precision Reactor Oscillation and Spectrum Experiment, PROSPECT, is designed to make both a precise measurement of the antineutrino spectrum from a highly-enriched uranium reactor and to probe eV-scale sterile neutrinos by searching for neutrino oscillations over meter-long baselines. PROSPECT utilizes a segmented $^6$Li-doped liquid scintillator detector for both efficient detection of reactor antineutrinos through the inverse beta decay reaction and excellent background discrimination. PROSPECT is a movable 4-ton antineutrino detector covering distances of 7m to 13m from the High Flux Isotope Reactor core. It will probe the best-fit point of the $\bar\nu_e$ disappearance experiments at 4$\sigma$ in 1 year and the favored regions of the sterile neutrino parameter space at more than 3$\sigma$ in 3 years. PROSPECT will test the origin of spectral deviations observed in recent $\theta_{13}$ experiments, search for sterile neutrinos, and address the hypothesis of sterile neutrinos as an explanation of the reactor anomaly. This paper describes the design, construction, and commissioning of PROSPECT and reports first data characterizing the performance of the PROSPECT antineutrino detector.Comment: 30 pages, 33 figures; updated with journal revision and referenc

Il romanzo francese contemporaneo (1980-2009)

Con la presente raccolta di studi sul romanzo francese contemporaneo si intende indicare alcune piste di approfondimento sull'opera di scrittori francesi contemporanei: Jean-Philippe Toussaint, Marie NDiaye, Arno Bertina, Cl\ue9mence Boulouque, Michel Chaillou, Jannick Haenel, Eric Laurrent, Marcel Moreau, Lorette Nob\ue9court, Olivia Rosenthal, Tanguy Viel, \uc9ric Vuillard. Nei dieci articoli sono messi in luce svariati aspetti del tutto nuovi della scrittura narrativa francese contemporanea. Infatti, i saggi alcuni saggi presentano analisi di forme e le strutture romanzesche messe al confronto con le altre forme artistiche e creative, altri si focalizzano sull\u2019insieme della produzione di autori pienamente riconosciuti. Il volume si chiude con una bibliografia che pu\uf2 essere un utile strumento per approfondire la conoscenza del romanzo francese di oggi