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Anna Grandone, Francesca Del Vecchio Blanco, Annalaura Torella, Manuela Caruso, Filippo De Luca, Raffaella Di Mase, Maria Francesca Messina, Maria Carolina Salerno, Alessia Sallemi, Lucia Perone, Pierluigi Marzuillo, Emanuele Miraglia Del Giudice, Vincenzo Nigro, Laura Perrone
AIMS: We aimed at evaluating a standard multiplex ligation-dependent probe amplification (MLPA) probe set for the detection of aneuploidy to diagnose Turner syndrome (TS). We first fixed an MLPA ratio cutoff able to detect all cases of TS in a pilot TS group. We then tested this value on a second group of TS patients and a short-stature population to measure specificity and sensitivity. METHODS: 15 TS patients with X mosaicism or X structural abnormalities (Pilot TS Group), 45 TS karyotype-assessed patients (TS Group), and 74 prepubertal female patients with apparent idiopathic short stature (Short-Stature Group) were enrolled...
October 27, 2016: Hormone Research in Pædiatrics
Luca Antonio Dimuccio, Nelson Rodrigues, Felice Larocca, João Pratas, Ana Margarida Amado, Luís A E Batista de Carvalho
This study examines the geochemical and mineralogical variations in the ferruginous mineralisations that crop out within Grotta della Monaca, which is considered to be the most striking and best known example of a prehistoric iron mine-cave from the southern Apennines (Calabria, Italy). Previous archaeological research identified three local and distinct ancient exploitation phases of these ferruginous mineralisations: (1) an Upper Palaeolithic phase; (2) a Late Neolithic phase; and (3) a post-Medieval phase...
October 17, 2016: Spectrochimica Acta. Part A, Molecular and Biomolecular Spectroscopy
Maurizio Ponz de Leon, Monica Pedroni, Luca Roncucci, Federica Domati, Giuseppina Rossi, Giulia Magnani, Annalisa Pezzi, Rossella Fante, Luca Reggiani Bonetti
Attenuated polyposis could be defined as a variant of familial adenomatous polyposis (FAP) in which synchronous polyps of the large bowel range between 10 and 99. We analysed all cases of attenuated polyposis observed over the last 30 years with the objectives: (A) to classify the disease according to different type and proportion of polyps; (B) To ascertain the contribution of APC and MutYH genes; (C) to discover features which could arise the suspicion of mutations; (D) To obtain indications for management and follow-up...
October 25, 2016: Familial Cancer
Paola Cipriani, Onorina Berardicurti, Francesco Masedu, Francesca D'Onofrio, Luca Navarini, Piero Ruscitti, Nicola Maruotti, Domenico Paolo Emanuele Margiotta, Vasiliki Liakouli, Paola Di Benedetto, Francesco Carubbi, Marco Valenti, Francesco Paolo Cantatore, Antonella Afeltra, Roberto Giacomelli
Since the introduction of biologics, many concerns about the increased risk of infections have been reported and, to date, the real impact of infections on the daily practice in the rheumatologic centers is still largely unknown. In this work, we evaluated the infection rates associated with the use of biologics in a large cohort of patients. A prospective study, between January 2010 and December 2013, enrolling 731 rheumatic patients, was performed. Demographic and disease characteristics, therapies, comorbidities, and infectious events were recorded and statistically analyzed by multivariate analysis...
October 25, 2016: Clinical Rheumatology
Caterina Pauletti, Daniela Mannarelli, Nicoletta Locuratolo, Luca Pollini, Antonio Currà, Lucio Marinelli, Steno Rinalduzzi, Francesco Fattapposta
Fatigue is a non-specific symptom that is common in chronic diseases and represents one of the most disabling symptoms in Parkinson's disease. PD patients often experience cognitive deficits related above all to executive functions. The relationship between cognitive changes and fatigue in PD patients has not been explored in depth. The Attention Network Test (ANT) is a rapid, widely used test to measure the efficiency of three attentional networks, i.e., alerting, orienting, and executive, by evaluating reaction times (RTs) in response to visual stimuli...
October 25, 2016: Journal of Neural Transmission
Daqiang Pan, Michel Kather, Lucas Willmann, Manuel Schlimpert, Christoph Bauer, Simon Lagies, Karin Schmidtkunz, Steffen U Eisenhardt, Manfred Jung, Stefan Günther, Bernd Kammerer
XD14 is a 4-acyl pyrrole derivative, which was discovered by a high-throughput virtual screening experiment. XD14 inhibits bromodomain and extra-terminal domain (BET) proteins (BRD2, BRD3, BRD4 and BRDT) and consequently suppresses cell proliferation. In this study, metabolic profiling reveals the molecular effects in the human breast cancer cell line MCF-7 (Michigan Cancer Foundation-7) treated by XD14. A three-day time series experiment with two concentrations of XD14 was performed. Gas chromatography-mass spectrometry (GC-MS) was applied for untargeted profiling of treated and non-treated MCF-7 cells...
October 24, 2016: International Journal of Molecular Sciences
Mohammad A Kaisar, Ravi K Sajja, Shikha Prasad, Vinay V Abhyankar, Taylor Liles, Luca Cucullo
The blood-brain barrier (BBB) is a dynamic biological interface which actively controls the passage of substances between the blood and the central nervous system (CNS). From a biological and functional standpoint, the BBB plays a crucial role in maintaining brain homeostasis inasmuch that deterioration of BBB functions are prodromal to many CNS disorders. Conversely, the BBB hinders the delivery of drugs targeting the brain to treat a variety of neurological diseases. Area covered: This article reviews recent technological improvements and innovation in the field of BBB modeling including static and dynamic cell-based platforms, microfluidic systems and the use of stem cells and 3D printing technologies...
October 26, 2016: Expert Opinion on Drug Discovery
Antonella Fogliata, Francesca Lobefalo, Giacomo Reggiori, Antonella Stravato, Stefano Tomatis, Marta Scorsetti, Luca Cozzi
PURPOSE: Small field measurements are challenging, due to the physical characteristics coming from the lack of charged particle equilibrium, the partial occlusion of the finite radiation source, and to the detector response. These characteristics can be modeled in the dose calculations in the treatment planning systems. Aim of the present work is to evaluate the MU calculation accuracy for small fields, defined by jaw or MLC, for anisotropic analytical algorithm (AAA) and Acuros XB algorithms, relative to output measurements on the beam central axis...
October 2016: Medical Physics
Enrico Girardi, Antonella d'Arminio Monforte, Laura Camoni, Patrizio Pezzotti, Giovanni Guaraldi, Adriana Ammassari, Andrea Antinori, Stefano Bonora, Cristina Mussini, Antonella Cingolani, Giulio Maria Corbelli, Silvia Adami, Luca Degli Esposti, Margherita Andretta
HIV disease has dramatically changed in the last two decades from a progressive, lethal disease to a chronic manageable condition. These changes are due to the availability of potent antiretroviral combination therapy, which also have the potential to contribute significantly to the control of the epidemic. Among persons living with HIV, incidence of immunosuppression-related opportunistic illnesses has clearly decreased, while an increase was observed in the prevalence of age-related noncommunicable comorbidities, including cardiovascular, metabolic, renal, bone and hepatic disease, due to chronic inflammatory state and to an overall aging of the population of persons with HIV...
October 2016: Recenti Progressi in Medicina
Antonio Addis, Luca De Fiore, Giuseppe Traversa
Some huge information technology companies have increased investment in biomedical research: recently Google, Microsoft, and Facebook. The latter presented the ambitious Zuckerberg-Chan Initiative involving three major Californian universities: UC San Francisco, Berkeley and Stanford. These important private investments arouse reflections. First, investing in scientific research improves the corporate image of the most generous companies and it is a great marketing strategy. Second, the availability of private funds is surely useful, especially if these funds are directed to relevant projects, and produce studies conducted and disseminated in a transparent way...
October 2016: Recenti Progressi in Medicina
Luca Gori, Luca Guerrini, Mauro Sodini
This article aims at analysing a two-sector economic growth model with discrete delays. The focus is on the dynamic properties of the emerging system. In particular, this study concentrates on the stability properties of the stationary solution, characterised by analytical results and geometrical techniques (stability crossing curves), and the conditions under which oscillatory dynamics emerge (through Hopf bifurcations). In addition, this article proposes some numerical simulations to illustrate the behaviour of the system when the stationary equilibrium is unstable...
September 2016: Chaos
Luciano Fanti, Luca Gori, Cristiana Mammana, Elisabetta Michetti
In this article, we investigate the local and global dynamics of a nonlinear duopoly model with price-setting firms and managerial delegation contracts (relative profits). Our study aims at clarifying the effects of the interaction between the degree of product differentiation and the weight of manager's bonus on long-term outcomes in two different states: managers behave more aggressively with the rival (competition) under product complementarity and less aggressively with the rival (cooperation) under product substitutability...
September 2016: Chaos
Aaron M Udager, Martin K Ishikawa, David R Lucas, Jonathan B McHugh, Rajiv M Patel
Angiosarcoma (AS) is an uncommon vascular malignancy with an aggressive clinical course. Radiation-associated angiosarcoma (RAAS) and Stewart-Treves syndrome are associated with MYC gene amplification and protein overexpression, while other radiation-associated vascular lesions including atypical vascular lesions (AVL) are not associated with MYC overexpression. In contrast, de novo AS represent a group of molecularly heterogeneous tumours, for which MYC expression has not been extensively examined. In this study, MYC immunohistochemistry (IHC) was performed on representative whole tissue sections of a large retrospective cohort of de novo AS, RAAS, Stewart-Treves syndrome, and AVL and evaluated using a semi-quantitative scoring method...
October 22, 2016: Pathology
José Javier Jareño-Esteban, M Ángeles Muñoz-Lucas, Óscar Gómez-Martín, Sergio Utrilla-Trigo, Carlos Gutiérrez-Ortega, Antonio Aguilar-Ros, Luis Collado-Yurrita, Luis Miguel Callol-Sánchez
INTRODUCTION: A major risk factor for chronic obstructive pulmonary disease (COPD) is tobacco smoke, which generates oxidative stress in airways, resulting in the production of volatile organic compounds (VOC). The purpose of this study was to identify VOCs in exhaled breath and to determine their possible use as disease biomarkers. METHOD: Exhaled breath from 100 healthy volunteers, divided into 3groups (never smokers, former smokers and active smokers) and exhaled breath from 57 COPD patients were analyzed...
October 22, 2016: Archivos de Bronconeumología
Olivia Cambiaso, De-Peng Zhao, Jose I Abasolo, Horacio A Aiello, Dick Oepkes, Enrico Lopriore, Lucas Otaño
INTRODUCTION: The type of cord insertion within monochorionic twin pairs could be different. The purpose of study is to evaluate the association of different combinations of placental umbilical cord insertions with birth weight discordance in a large cohort of monochorionic twins. METHODS: All consecutive monochorionic placentas from either uncomplicated twin pregnancies or with fetal weight discordance examined and injected with color dye at our centers were included in this study (n = 374)...
November 2016: Placenta
Carlo D'Aniello, Roberto Cuomo, Luca Grimaldi, Cesare Brandi, Andrea Sisti, Juri Tassinari, Giuseppe Nisi
BACKGROUND: After considerable weight loss, the breast suffers significant deformation. The ptotic breast is characterized by a lack of superior pole, tissue excess in the inferior pole, down-migration of nipple-areola complex (NAC) with redundancy to skin tissue. The authors describe a mastopexy technique based on a modulated and progressive reshaping, back rotation, and suspension of mammary gland parenchyma without parenchymal incisions. METHODS: Forty-five patients with bilateral moderate or severe breast ptosis underwent mastopexy from January 2011 to January 2014 with complete detachment of breast from the pectoralis major muscle and the plication line of parenchyma without any parenchymal incision...
October 26, 2016: Journal of Investigative Surgery: the Official Journal of the Academy of Surgical Research
Luca Lo Verde, Maria Concetta Morrone, Claudia Lunghi
It is known that, after a prolonged period of visual deprivation, the adult visual cortex can be recruited for nonvisual processing, reflecting cross-modal plasticity. Here, we investigated whether cross-modal plasticity can occur at short timescales in the typical adult brain by comparing the interaction between vision and touch during binocular rivalry before and after a brief period of monocular deprivation, which strongly alters ocular balance favoring the deprived eye. While viewing dichoptically two gratings of orthogonal orientation, participants were asked to actively explore a haptic grating congruent in orientation to one of the two rivalrous stimuli...
October 25, 2016: Journal of Cognitive Neuroscience
Renzo Guarnieri, Luca Savio, Alessandro Bermonds des Ambrois, Stefano Ippoliti, Francesco Zuffetti, Luigi Vito Stefanelli, Stefano Di Carlo, Giorgio Pompa
PURPOSE: The aim of this study was to evaluate the possible factors that influenced the periimplant soft tissue changes around single implants-abutments with laser-microtextured surface (LMS) in the esthetic zone. MATERIALS AND METHODS: Thirty-nine units, formed by implant-abutment with LMS were studied. Variables possibly associated with the periimplant soft tissue changes were obtained from clinical measurements (plaque [present/absent], periimplant biotype [thin/thick], and probing depth); intrasurgical measurements (vertical height in millimeters of the keratinized gingiva in the vestibular part of the implant site vestibular keratinized gingiva [VKG], implant vestibular crestal exposition, vestibular crestal level, and vestibular bone width); cast models (implant position [buccal/palatal], implant abutments angle); periapical radiographs (distance from the contact point to the interproximal bone crest of the adjacent tooth [CP-BC], distance from the contact point to the implant platform [CP-P], distance from the contact point to the first bone to implant contact [CP-IB]); and digital clinical photographs...
October 20, 2016: Implant Dentistry
Francesco Piscioli, Teresa Pusiol, Luca Roncati
No abstract text is available yet for this article.
December 2016: Melanoma Research
Francesco Piscioli, Teresa Pusiol, Luca Roncati
No abstract text is available yet for this article.
December 2016: Melanoma Research
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