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Arianna Di Stadio, Evanthia Bernitsas, Domenico Antonio Restivo, Enrico Alfonsi, Rosario Marchese-Ragona
OBJECTIVES: This study aims to evaluate the effect of botulin toxin A in patients with multiple sclerosis (MS) affected by spasmodic dysphonia (SD) and to show the safety and effectiveness of this treatment in long-term observation. MATERIALS AND METHODS: This is a pilot study on three relapsing-remitting MS patients with SD and their response to botulin toxin A. RESULTS: None of the patients reported dysphagia or other adverse events. Significant improvement was observed in terms of both voice quality and laryngostroboscopy results...
April 9, 2018: Journal of Voice: Official Journal of the Voice Foundation
Paola Infante, Roberta Faedda, Flavia Bernardi, Francesca Bufalieri, Ludovica Lospinoso Severini, Romina Alfonsi, Daniela Mazzà, Mariangela Siler, Sonia Coni, Agnese Po, Marialaura Petroni, Elisabetta Ferretti, Mattia Mori, Enrico De Smaele, Gianluca Canettieri, Carlo Capalbo, Marella Maroder, Isabella Screpanti, Marcel Kool, Stefan M Pfister, Daniele Guardavaccaro, Alberto Gulino, Lucia Di Marcotullio
Suppressor of Fused (SuFu), a tumour suppressor mutated in medulloblastoma, is a central player of Hh signalling, a pathway crucial for development and deregulated in cancer. Although the control of Gli transcription factors by SuFu is critical in Hh signalling, our understanding of the mechanism regulating this key event remains limited. Here, we show that the Itch/β-arrestin2 complex binds SuFu and induces its Lys63-linked polyubiquitylation without affecting its stability. This process increases the association of SuFu with Gli3, promoting the conversion of Gli3 into a repressor, which keeps Hh signalling off...
March 7, 2018: Nature Communications
Matteo Gastaldi, Enrico Marchioni, Paola Banfi, Valeria Mariani, Laura Di Lodovico, Roberto Bergamaschi, Enrico Alfonsi, Paola Borrelli, Ottavia Eleonora Ferraro, Elisabetta Zardini, Anna Pichiecchio, Andrea Cortese, Patrick Waters, Mark Woodhall, Mauro Ceroni, Marco Mauri, Diego Franciotta
BACKGROUND: Transverse myelitis (TM) is an inflammatory disorder that can be idiopathic or associated with central nervous system autoimmune/dysimmune inflammatory diseases, connective tissue autoimmune diseases, or post-infectious neurological syndromes. Prognosis of initial TM presentations is uncertain. OBJECTIVE: To identify outcome predictors in TM. METHODS: Retrospective study on isolated TM at onset. Scores ⩾3 on the modified Rankin scale (mRS) marked high disability...
September 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
Roberta De Mori, Marta Romani, Stefano D'Arrigo, Maha S Zaki, Elisa Lorefice, Silvia Tardivo, Tommaso Biagini, Valentina Stanley, Damir Musaev, Joel Fluss, Alessia Micalizzi, Sara Nuovo, Barbara Illi, Luisa Chiapparini, Lucia Di Marcotullio, Mahmoud Y Issa, Danila Anello, Antonella Casella, Monia Ginevrino, Autumn Sa'na Leggins, Susanne Roosing, Romina Alfonsi, Jessica Rosati, Rachel Schot, Grazia Maria Simonetta Mancini, Enrico Bertini, William B Dobyns, Tommaso Mazza, Joseph G Gleeson, Enza Maria Valente
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is mediated by the primary cilium, and genetic defects affecting either SHH pathway members or ciliary proteins cause a spectrum of developmental disorders. SUFU is the main negative regulator of the SHH pathway and is essential during development. Indeed, Sufu knock-out is lethal in mice, and recessive pathogenic variants of this gene have never been reported in humans...
October 5, 2017: American Journal of Human Genetics
Giuseppe Cosentino, Francesca Valentino, Massimiliano Todisco, Enrico Alfonsi, Rosaria Davì, Giovanni Savettieri, Brigida Fierro, Marco D'Amelio, Filippo Brighina
Objective: To evaluate therapeutic potential of different montages of transcranial direct current stimulation (tDCS) in Parkinson's Disease (PD) patients with asymmetric motor symptoms. Materials and Methods: Fourteen patients with asymmetric PD underwent, while on treatment, seven separate sessions including electrophysiological and clinical evaluation at baseline and after anodal, cathodal and sham tDCS of the primary motor cortex (M1) of the two hemispheres. Changes in motor cortical excitability were evaluated by transcranial magnetic stimulation (TMS)...
2017: Frontiers in Human Neuroscience
Enrico Alfonsi, Domenico A Restivo, Giuseppe Cosentino, Roberto De Icco, Giulia Bertino, Antonio Schindler, Massimiliano Todisco, Mauro Fresia, Andrea Cortese, Paolo Prunetti, Matteo C Ramusino, Arrigo Moglia, Giorgio Sandrini, Cristina Tassorelli
Background and Aims: Neurogenic dysphagia linked to failed relaxation of the upper esophageal sphincter (UES) can be treated by injecting botulinum toxin (BTX) into the cricopharyngeal (CP) muscle. We compared the effects of this treatment in different neurological disorders with dysphagia, to evaluate its efficacy over time including the response to a second injection. Materials and Methods: Sixty-seven patients with neurogenic dysphagia associated with incomplete or absent opening of the UES (24 with brainstem or hemispheric stroke, 21 with parkinsonian syndromes, 12 with multiple sclerosis, and 10 with spastic-dystonic syndromes secondary to post-traumatic encephalopathy) were treated with the injection of IncobotulinumtoxinA (dose 15-20 U) into the CP muscle under electromyographic guidance...
2017: Frontiers in Pharmacology
Alberto M Saibene, Elena Zambrelli, Carlotta Pipolo, Alberto Maccari, Giovanni Felisati, Elena Felisati, Francesca Furia, Aglaia Vignoli, Maria Paola Canevini, Enrico Alfonsi
Vagus nerve stimulation (VNS) is a useful tool for drug-resistant epilepsy, but it induces known laryngeal side effects, with a significant role on patients' quality of life. VNS patients may show persistent left vocal fold (LVF) palsy at rest and/or recurrent LVF adduction during stimulation. This study aims at electromyographically evaluating laryngeal muscles abnormalities in VNS patients. We compared endoscopic laryngeal evaluation data in six VNS patients with laryngeal muscle electromyography (LMEMG) carried out on the thyroarytenoid, cricothyroid, posterior cricoarytenoid, and cricopharyngeal muscles...
March 2017: European Archives of Oto-rhino-laryngology
Carlo A Porro, Giorgio Sandrini, Andrea Truini, Valeria Tugnoli, Enrico Alfonsi, Laura Berliocchi, Carlo Cacciatori, Silvia LA Cesa, Francesca Magrinelli, Paola Sacerdote, Massimiliano Valeriani, Stefano Tamburin
Pain is very common in neurorehabilitation, where it may be a target for treatment and have a negative effect on rehabilitation procedures and outcomes. Promising preliminary preclinical data support certain therapeutic approaches to pain, but there is a strong need of adequate preclinical models, experimental settings, outcome measures, and biomarkers that are more relevant for pain within the neurorehabilitation field. Data on the diagnosis and assessment of nociceptive and neuropathic pain (NP) are very scanty in neurorehabilitation, but those from other contexts can be adapted and translated to this specific setting...
October 2016: European Journal of Physical and Rehabilitation Medicine
Daniela Ginocchio, Enrico Alfonsi, Francesco Mozzanica, Anna Rosa Accornero, Antonella Bergonzoni, Giulia Chiarello, Nicoletta De Luca, Daniele Farneti, Simonelli Marilia, Paola Calcagno, Valentina Turroni, Antonio Schindler
The aim of the study was to evaluate the reliability and validity of the Italian SWAL-QOL (I-SWAL-QOL). The study consisted of five phases: item generation, reliability analysis, normative data generation, validity analysis, and responsiveness analysis. The item generation phase followed the five-step, cross-cultural, adaptation process of translation and back-translation. A group of 92 dysphagic patients was enrolled for the internal consistency analysis. Seventy-eight patients completed the I-SWAL-QOL twice, 2 weeks apart, for test-retest reliability analysis...
October 2016: Dysphagia
Andrea Cortese, Jérôme J Devaux, Elisabetta Zardini, Constance Manso, Guillaume Taieb, Clarisse Carra Dallière, Philippe Merle, Cecilia Osera, Silvia Romagnolo, Nicolò Visigalli, Giuseppe Piscosquito, Ettore Salsano, Enrico Alfonsi, Arrigo Moglia, Davide Pareyson, Enrico Marchioni, Diego Franciotta
No abstract text is available yet for this article.
August 2016: Neurology® Neuroimmunology & Neuroinflammation
Roberto Bruni, Stefania Taffon, Michele Equestre, Paola Chionne, Elisabetta Madonna, Caterina Rizzo, Maria Elena Tosti, Valeria Alfonsi, Lara Ricotta, Dario De Medici, Simona Di Pasquale, Gaia Scavia, Enrico Pavoni, Marina Nadia Losio, Luisa Romanò, Alessandro Remo Zanetti, Anna Morea, Monia Pacenti, Giorgio Palù, Maria Rosaria Capobianchi, Maria Chironna, Maria Grazia Pompa, Anna Rita Ciccaglione
BACKGROUND: Foodborne Hepatitis A Virus (HAV) outbreaks are being recognized as an emerging public health problem in industrialized countries. In 2013 three foodborne HAV outbreaks occurred in Europe and one in USA. During the largest of the three European outbreaks, most cases occurred in Italy (>1,200 cases as of March 31, 2014). A national Task Force was established at the beginning of the outbreak by the Ministry of Health. Mixed frozen berries were early demonstrated to be the source of infection by the identity of viral sequences in patients and in food...
2016: PloS One
Enrico Alfonsi, Paolo Paone, Cristina Tassorelli, Roberto De Icco, Arrigo Moglia, Elena Alvisi, Lucky Marchetta, Mauro Fresia, Alessandra Montini, Marzia Calabrese, Vittorio Versiglia, Giorgio Sandrini
This study in healthy subjects examined the effects of a system delivering focal microvibrations at high frequency (Equistasi®) on tonic vibration stimulus (TVS)-induced inhibition of the soleus muscle H reflex. Highfrequency microvibrations significantly increased the inhibitory effect of TVS on the H reflex for up to three minutes. Moreover, Equistasi® also significantly reduced alpha-motoneuron excitability, as indicated by the changes in the ratio between the maximumamplitude H reflex (Hmax reflex) and the maximumamplitude muscle response (Mmax response); this effect was due to reduction of the amplitude of the H reflex because the amplitude of muscle response remained unchanged...
October 2015: Functional Neurology
Mohamed Abdelhamid Ali Yousef, Paolo Dionigi, Stefania Marconi, Alberto Calligaro, Antonia Icaro Cornaglia, Enrico Alfonsi, Ferdinando Auricchio
INTRODUCTION: Repair of peripheral nerve injuries is an intensive area of challenge and research in modern reconstructive microsurgery. Intensive research is being carried out to develop effective alternatives to the standard nerve autografting, avoiding its drawbacks. The aim of the study was to evaluate the effectiveness of a newly designed mechanical device for the reconstruction of the sciatic nerve in rats in comparison to nerve autografting and to assess the pain during the period of distraction neurogenesis...
October 2015: Basic and Clinical Neuroscience
Enrico Alfonsi, Giuseppe Cosentino, Luca Mainardi, Antonio Schindler, Mauro Fresia, Filippo Brighina, Marco Benazzo, Arrigo Moglia, Elena Alvisi, Brigida Fierro, Giorgio Sandrini
Electrophysiological assessment provides valuable information on physiological and pathophysiological characteristics of human swallowing. Here, new electrophysiological measures for the evaluation of oropharyngeal swallowing were assessed: (1) the activation pattern of the submental/suprahyoid EMG activity (SHEMG); (2) the reproducibility of the oral and pharyngeal phases of swallowing, by calculating the similarity index (SI) of the SHEMG (SI-SHEMG) and of the laryngeal-pharyngeal mechanogram (SI-LPM) during repeated swallows; and (3) kinesiological measures related to the LPM...
October 2015: Dysphagia
Paola Infante, Mattia Mori, Romina Alfonsi, Francesca Ghirga, Federica Aiello, Sara Toscano, Cinzia Ingallina, Mariangela Siler, Danilo Cucchi, Agnese Po, Evelina Miele, Davide D'Amico, Gianluca Canettieri, Enrico De Smaele, Elisabetta Ferretti, Isabella Screpanti, Gloria Uccello Barretta, Maurizio Botta, Bruno Botta, Alberto Gulino, Lucia Di Marcotullio
Hedgehog signaling is essential for tissue development and stemness, and its deregulation has been observed in many tumors. Aberrant activation of Hedgehog signaling is the result of genetic mutations of pathway components or other Smo-dependent or independent mechanisms, all triggering the downstream effector Gli1. For this reason, understanding the poorly elucidated mechanism of Gli1-mediated transcription allows to identify novel molecules blocking the pathway at a downstream level, representing a critical goal in tumor biology...
January 13, 2015: EMBO Journal
Roberto De Sanctis, Marika Pane, Serena Sivo, Valeria Ricotti, Giovanni Baranello, Silvia Frosini, Elena Mazzone, Flaviana Bianco, Lavinia Fanelli, Marion Main, Alice Corlatti, Adele D'Amico, Giulia Colia, Roberta Scalise, Concetta Palermo, Chiara Alfonsi, Giovanna Tritto, Domenico M Romeo, Alessandra Graziano, Roberta Battini, Lucia Morandi, Enrico Bertini, Francesco Muntoni, Eugenio Mercuri
The aim of this study was to establish the suitability of the North Star Ambulatory Assessment for use in young boys with Duchenne muscular dystrophy. We studied 147 typically developing and 144 boys affected by Duchenne muscular dystrophy between the ages of 3 and 5 years. More than 85% of the typically developing boys by the age of 4 years had full scores on all the items with total scores ≥33/34. Before the age of 4 years more than 15% of the typically developing boys did not achieve full scores on all the items...
January 2015: Neuromuscular Disorders: NMD
Giuseppe Cosentino, Enrico Alfonsi, Filippo Brighina, Mauro Fresia, Brigida Fierro, Giorgio Sandrini, Antonio Schindler, Francesca Valentino, Danilo Fontana, Alberto Priori
BACKGROUND: Transcranial direct current stimulation (tDCS) is a non-invasive technique used for modulating cortical excitability in vivo in humans. Here we evaluated the effect of tDCS on behavioral and electrophysiological aspects of physiological sucking and swallowing. METHODS: Twelve healthy subjects underwent three tDCS sessions (anodal, cathodal and sham stimulation) on separate days in a double-blind randomized order. The active electrode was placed over the right swallowing motor cortex...
November 2014: Brain Stimulation
Giuseppe Cosentino, Filippo Brighina, Simona Talamanca, Piera Paladino, Simone Vigneri, Roberta Baschi, Serena Indovino, Simona Maccora, Enrico Alfonsi, Brigida Fierro
BACKGROUND AND OBJECTIVE: Neurophysiological studies in migraine have reported conflicting findings of either cortical hyper- or hypoexcitability. In migraine with aura (MwA) patients, we recently documented an inhibitory response to suprathreshold, high-frequency repetitive transcranial magnetic stimulation (hf-rTMS) trains applied to the primary motor cortex, which is in contrast with the facilitatory response observed in the healthy subjects. The aim of the present study was to support the hypothesis that in migraine, because of a condition of basal increased cortical responsivity, inhibitory homeostatic like mechanisms of cortical excitability could be induced by high magnitude stimulation...
April 2014: Headache
Marika Pane, Elena S Mazzone, Maria Pia Sormani, Sonia Messina, Gian Luca Vita, Lavinia Fanelli, Angela Berardinelli, Yvan Torrente, Adele D'Amico, Valentina Lanzillotta, Emanuela Viggiano, Paola D'Ambrosio, Filippo Cavallaro, Silvia Frosini, Luca Bello, Serena Bonfiglio, Roberta Scalise, Roberto De Sanctis, Enrica Rolle, Flaviana Bianco, Marlene Van der Haawue, Francesca Magri, Concetta Palermo, Francesca Rossi, Maria Alice Donati, Chiara Alfonsi, Michele Sacchini, Maria Teresa Arnoldi, Giovanni Baranello, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Stefano C Previtali, Sara Napolitano, Claudio Bruno, Luisa Politano, Giacomo P Comi, Enrico Bertini, Lucia Morandi, Francesca Gualandi, Alessandra Ferlini, Nathalie Goemans, Eugenio Mercuri
OBJECTIVE: In the last few years some of the therapeutical approaches for Duchenne muscular dystrophy (DMD) are specifically targeting distinct groups of mutations, such as deletions eligible for skipping of individual exons. The aim of this observational study was to establish whether patients with distinct groups of mutations have different profiles of changes on the 6 minute walk test (6MWT) over a 12 month period. METHODS: The 6MWT was performed in 191 ambulant DMD boys at baseline and 12 months later...
2014: PloS One
Antonio Schindler, Francesco Mozzanica, Enrico Alfonsi, Daniela Ginocchio, Erwin Rieder, Johannes Lenglinger, Sebastian F Schoppmann, Martina Scharitzer, Peter Pokieser, Shiko Kuribayashi, Osamu Kawamura, Motoyasu Kusano, Karol Zelenik
The following discussion of upper esophageal sphincter dysfunction includes commentaries on the role of the cricopharyngeus muscle in reflux disease; the etiology and treatment of Zenker diverticulum; the use of videofluoroscopy in patients with dysphagia, suspicion of aspiration, or globus; the role of pH-impedance monitoring in globus evaluation; and treatment for reflux-associated globus.
October 2013: Annals of the New York Academy of Sciences
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