Mixed regime of light-matter interaction revealed by phase sensitive measurements of the dynamical Franz-Keldysh effect

The speed of ultra-fast optical switches is generally limited by the intrinsic electronic response time of the material. Here we show that the phase content of selected electromagnetic pulses can be used to measure the timescales characteristic for the different regimes of matter-light interactions. By means of combined single cycle THz pumps and broadband optical probes, we explore the field-induced opacity in GaAs (the Franz-Keldysh effect). Our phase-resolved measurements allow to identify a novel quasi-static regime of saturation where memory effects are of relevance

Genetic test in multiple endocrine neoplasia type 1 syndrome: An evolving story.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited tumour syndrome expressing various endocrine and non-endocrine lesions and tumours. Since the identification of the causative gene, the oncosuppressor gene MEN1, in 1997, genetic testing has revealed an important approach for the early and differential diagnosis of the disease. The finding of a MEN1 mutation in a patient has important clinical implications for relatives since it allows very early disease diagnosis and identification of carriers, even before biochemical and/or clinical manifestation, permitting their inclusion in a specific program of surveillance and subsequent praecox therapy. Currently, genetic testing for MEN1 consists principally of the sequencing of coding regions and intron-exon junctions of the MEN1 gene. However, the recent acquisition of novel high throughput technologies will allow the design of innovative, accurate, complete and rapid genetic diagnosis. These new tools are able to increase the strength of the analysis and almost completely eliminate the possibility of false negative results. This review aims to give an overview on genetic testing of MEN1 syndrome, reporting the positive aspects of performing the analysis and the future perspectives for improving the performance of the test, as well as its application in clinical practice

Management impact: effects on quality of life and prognosis in MEN1

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant endocrine tumor syndrome, caused by inactivating mutations of the MEN1 tumor suppressor gene at 11q13 locus, which predisposes to develop tumors in target neuroendocrine tissues. As the positional cloning and identification of the causative gene in 1997, genetic diagnosis, by the sequencing-based research of gene mutations, has become an important tool in the early and differential diagnosis of the disease. Application of the genetic test, in MEN1 index cases and in first-degree relatives of mutated patients, has been constantly increasing during the last two decades, also thanks to the establishment of multidisciplinary referral centers and specific genetic counseling, and thanks to the wide availability of high throughput instruments for gene sequencing and gene mutation identification. The MEN1 genetic test helps the specific diagnosis of probands, and allows the early identification of asymptomatic carriers, strongly contributing, together with progressions in tumor diagnostic techniques and in pharmacological and surgical therapeutic approaches, to the reduction of morbidity and mortality associated with the syndrome. International clinical guidelines for MEN1 have been drafted by panels of specialists in the field, with the main goal to improve the management of the disease and grant patients a better quality of life. Here, we review main recommendations and suggestions derived by the last published general guidelines in 2012, and by most recent published studies about MEN1 syndrome diagnosis, clinical management, therapeutic approaches and patients’ quality of life.</jats:p

Tra riscoperta e ripristino del Medioevo. Le ville turrifié nell’opera di Georges Rohault de Fleury a Pisa

The paper focuses on an original aspect of the work of GeorgesRohault de Fleury (1835-1904), who, from 1853 onwards, stayedin Pisa several times and for a long time to analyse medievalarchitecture and art, to which he dedicated about twenty yearsof work. The centrality of the theme of the ville turrifié and thetower-house emerge in the framework of the studies of theTuscan monuments and especially of Pisa, which he investigatesintending to reconstruct a city's history. In particular, the themeof civil architecture lends itself to reconstructive hypothesessince little seems to have remained of the original structures,which nevertheless emerge, at some points, from the plasteredfacades of the palaces, from which de Fleury elaboratesconjectures and reliefs. The tower house, for de Fleury directlyborrowed from the defensive structures, is the typology thatdistinguishes the diffused urban fabric of a real tower city likePisa, which seems to have a remarkable reputation in buildingskill.The paper wants, therefore, to frame the work of GeorgesRohault de Fleury in the broader context of studies on therediscovery of the Middle Ages, concerning the close linkswith the French culture (not only de Fleury, but also Verdierand Cattois, Labruste, etc.), and the fallout on the restorationreinventionin its long period and the different declinations.Il contributo si focalizza su un aspetto inedito dell’opera di Georges Rohault de Fleury (1835-1904), che a partire dal 1853 soggiorna a Pisa più volte e a lungo, per analizzare l’architettura e l’arte medievale, cui dedicherà circa vent’anni di lavoro. Nel quadro degli studi dei monumenti toscani e in particolare pisani, emerge la centralità del tema della “ville turrifié”, e della casa-torre in particolare, che egli indaga con l’obiettivo di ricostruire una vicenda cittadina. In particolare, il tema dell’architettura civile si presta a ipotesi ricostruttive, dal momento che poco sembra essere rimasto delle strutture originarie, tuttavia emergenti, a tratti, dalle cortine intonacate dei palazzi, da cui de Fleury elabora congetture e rilievi. La casa torre, per lui direttamente mutuata dalle strutture difensive, è la tipologia che distingue il tessuto urbano diffuso di una vera e propria città-torre come Pisa che sembra godere di una particolare reputazione nell’abilità edificatoria. L’obiettivo del paper vuole quindi inquadrare l’opera di Georges Rohault de Fleury nel più ampio contesto di studi sulla riscoperta del Medioevo, con particolare riferimento agli stretti legami con la cultura francese (non solo il de Fleury, ma anche Verdier e Cattois, Labruste, ecc.), e la ricaduta sul fronte del restauro-ripristino- reinvenzione nella sua lunga durata e nelle diverse declinazioni assunte.

Fattori angiogenetici e fibrogenici nella malattia da IgG4

La malattia da IgG4 (IgG4-RD) è una malattia fibro-infiammatoria ad eziologia sconosciuta riconosciuta relativamente da poco tempo che colpisce potenzialmente ogni organo. L’elevazione dei livelli sierici delle IgG4 caratterizza la maggioranza dei soggetti affetti, aiutando nel sospetto diagnostico e nella diagnosi, anche se per la diagnosi definitiva è necessaria l’istologia, accompagnata da adeguate correlazioni cliniche. La fibrosi è una caratteristica chiave della diagnosi istologica e della malattia stessa: alcuni studi hanno descritto la presenza di mediatori pro-fibrogenici come TGF-β1 e periostina in campioni bioptici di ghiandole salivari affette da IgG4-RD, ma nessuno ha finora valutato i fattori che regolano l’angiogenesi, tappa fondamentale nella fibrosi e mediatori che regolano tali processi nel circolo sistemico. Lo scopo di questo studio è quello di valutare in pazienti con malattia da IgG4 i livelli sierici circolanti di fattori che regolano l’angiogenesi (VEGF, Ang-1, Endostatina) e la fibrosi (TGF-β1, SDF-1) ed i livelli delle molecole di adesione solubili ICAM-1 (sICAM-1) e VCAM-1 (sVCAM-1), marcatori di disregolazione endoteliale, correlando i risultati ottenuti con i principali parametri sierologici e clinici della malattia. Abbiamo studiato 15 pazienti affetti da IgG4-RD reclutati presso U.O. di Immuno-Allergologia. Nel siero di tali pazienti abbiamo dosato con metodica immunoenzimatica VEGF, Ang-1, Endostatina, TGF-β1, SDF-1, sICAM-1 e sVCAM-1 e ne abbiamo confrontato i livelli con quelli dei sieri di soggetti sani. Nel nostro studio, i pazienti con IgG4-RD presentavano, tra i fattori angiogenici, livelli di VEGF e di Ang-1 sovrapponibili a quelli dei soggetti sani, mentre i livelli del fattore angiostatico Endostatina erano significativamente aumentati rispetto ai controlli. Tra i fattori fibrogenici i livelli di SDF-1, ma non TGF-1 sono risultati significativamente aumentati rispetto al gruppo di controllo. I livelli sierici di sICAM-1, ma non sVCAM-1 sono risultati significativamente aumentati tra i pazienti con IgG4-RD rispetto ai pazienti sani. Dal nostro studio si evince che non solo a livello del tessuto d’organo interessato dalla malattia, ma anche in circolo è presente una disregolazione dei fattori che regolano l’angiogenesi e la fibrosi

Ruderi industriali e materiali sperimentali, nel quadro della conservazione del patrimonio del XX secolo: gli elementi tubolari in eternit dell’immeuble de rapport di Rue Greuze 38, a Parigi, di Hector Guimard

The technological experimentation is a culturally significant aspect of the twentieth century architecture that presents considerable conservation problems, especially when the materials that are used are considered harmful for the environment. It’s the case of asbestos, that we want to specifically analyze, starting from a particularly significant case-study of Hector Guimard activity: l’immeuble du rapport in rue Greuze 38 in Paris, a real tribute to his friend Henri Sauvage, in resorting to the use of his patent of the Eternit tubular elements system. With the aim to provide a coherent contribution to the preservation of the cultural values of the twentieth century heritage, we aim, through the examination of an authorial building, a multi-disciplinary method of approach combining the cultural value of the asset with the problems of restoration and environmental sustainability

Primary hyperparathyroidism in multiple endocrine neoplasia type 1: when to perform surgery?

Primary hyperparathyroidism is a common endocrinological disorder. In rare circumstances, it is associated with familial syndromes, such as multiple endocrine neoplasia type 1. This syndrome is caused by a germline mutation in the multiple endocrine neoplasia type 1 gene encoding the tumor-suppressor protein menin. Usually, primary hyperparathyroidism is the initial clinical expression in carriers of multiple endocrine neoplasia type 1 mutations, occurring in more than 90% of patients and appearing at a young age (20-25 years). Multiple endocrine neoplasia type 1/primary hyperparathyroidism is generally accompanied by multiglandular disease, clinically manifesting with hypercalcemia, although it can remain asymptomatic for a long time and consequently not always be recognized early. Surgery is the recommended treatment. The goal of this short review is to discuss the timing of surgery in patients when primary hyperparathyroidism is associated with multiple endocrine neoplasia type 1

Introduction

This volume includes selected and adapted papers from The Romance Turn VII, held in Venice on October 1-3, 2015. As for previous edi-tions, the conference brought together researchers from across Europe and overseas with the aim of communicating results and developing further research in the acquisition of Romance languages. The selected papers focus on a broad range of topics which are at the heart of the current debate on language acquisition (clitic pro-nouns, left-dislocations, passives, relative clauses, wh-questions) in a number of different acquisition settings: L1 and L2 acquisition, bilin-gualism, typical and atypical development. In addition to syntax, the volume covers other modules of grammar: semantics, pragmatics, and phonology, and adds a perspective on language processing to the cur-rent discussion on the acquisition of Romance languages. It mainly focuses on Italian, Brazilian Portuguese, and Romanian, in a compara-tive perspective with other Romance languages (Catalan, European Portuguese, French, Spanish) and languages of other language families (English, German, Persian, Sesotho, Turkish, etc.). One contribution on bilinguals with Greek as one of the two languages opens a perspective on a Balkan non-Romance language which may be interesting to be compared with Romanian