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JOURNAL ARTICLE
Ludovica Lospinoso Severini, Elena Loricchio, Shirin Navacci, Irene Basili, Romina Alfonsi, Flavia Bernardi, Marta Moretti, Marilisa Conenna, Antonino Cucinotta, Sonia Coni, Marialaura Petroni, Enrico De Smaele, Giuseppe Giannini, Marella Maroder, Gianluca Canettieri, Angela Mastronuzzi, Daniele Guardavaccaro, Olivier Ayrault, Paola Infante, Francesca Bufalieri, Lucia Di Marcotullio
The Sonic Hedgehog (SHH) pathway is crucial regulator of embryonic development and stemness. Its alteration leads to medulloblastoma (MB), the most common malignant pediatric brain tumor. The SHH-MB subgroup is the best genetically characterized, however the molecular mechanisms responsible for its pathogenesis are not fully understood and therapeutic benefits are still limited. Here, we show that the pro-oncogenic stemness regulator Spalt-like transcriptional factor 4 (SALL4) is re-expressed in mouse SHH-MB models, and its high levels correlate with worse overall survival in SHH-MB patients...
December 7, 2023: Cell Death and Differentiation
#2
Luca Pavesi, Cecilia Balzano, Simone Mauramati, Carla Giudice, Mauro Fresia, Massimiliano Todisco, Enrico Alfonsi, Giuseppe Cosentino
A large constellation of hitherto unexplained symptoms including inability to burp, gurgling noises from the chest and lower neck, abdominal bloating, flatulence, painful hiccups and emetophobia was defined as Retrograde Cricopharyngeus Dysfunction (R-CPD) in 2019. First choice treatment of R-CPD involves injection of botulinum toxin into the cricopharyngeus muscle under local or general anesthesia. This treatment has been found to be effective in the vast majority of subjects, with limited adverse events and prolonged therapeutic effects...
2023: Frontiers in Neurology
#3
REVIEW
Massimiliano Todisco, Giuseppe Cosentino, Enrico Alfonsi
Multiple system atrophy is a sporadic, progressive, adult-onset, neurodegenerative disorder characterized by autonomic dysfunction symptoms, parkinsonian features, and cerebellar signs in various combinations. An early diagnosis of multiple system atrophy is of utmost importance for the proper prevention and management of its potentially fatal complications leading to the poor prognosis of these patients. The current diagnostic criteria incorporate several clinical red flags and magnetic resonance imaging markers supporting diagnosis of multiple system atrophy...
September 2023: Neural Regeneration Research
#4
REVIEW
Filippo Barbiera, Giuseppe Cosentino, Francesco La Seta, Elena Vetrano, Bruno Murmura, Micol Avenali, Enrico Alfonsi, Cristina Tassorelli
PURPOSE: Dysphagia is a common symptom in patients with Parkinson's disease (PD), though it may go undiagnosed until severe complications arise. Dysphagia can be suspected on a clinical basis, but an instrumental assessment is mandatory to confirm its presence and evaluate pathophysiological aspects and severity of the swallowing impairment. Aim of this review is to inform the clinician and the radiologist on the importance and the main radiological findings of the Video-Fluoroscopic-Swallow-Study (VFSS) in patients with PD starting from the most recent literature data on the topic...
January 2023: La Radiologia Medica
#5
JOURNAL ARTICLE
Giuseppe Cosentino, Eugenia Maiorano, Massimiliano Todisco, Paolo Prunetti, Elisa Antoniazzi, Giulia Tammam, Ilaria Quartesan, Sara Lettieri, Roberto De Icco, Angelo Guido Corsico, Marco Benazzo, Antonio Pisani, Cristina Tassorelli, Enrico Alfonsi
BACKGROUND: Smell and taste disturbances are among the most frequent neurological symptoms in patients with COVID-19. A concomitant impairment of the trigeminal nerve has been suggested in subjects with olfactory dysfunction, although it has not been confirmed with objective measurement techniques. In this study, we explored the trigeminal function and its correlations with clinical features in COVID-19 patients with impaired smell perception using electrophysiological testing. METHODS: We enrolled 16 consecutive patients with mild COVID-19 and smell impairment and 14 healthy controls (HCs)...
2022: Frontiers in Neurology
#6
REVIEW
Giuseppe Cosentino, Massimiliano Todisco, Carla Giudice, Cristina Tassorelli, Enrico Alfonsi
PURPOSE OF REVIEW: Neurogenic dysphagia worsens quality of life and prognosis of patients with different neurological disorders. Management of neurogenic dysphagia can be challenging. This review provides a comprehensive overview of current evidence on screening, diagnosis, and treatment of neurogenic dysphagia in stroke and Parkinson's disease, suggesting clues for clinical practice. RECENT FINDINGS: The pros and cons of diagnostic techniques are discussed in the light of updated evidence...
December 1, 2022: Current Opinion in Neurology
#7
JOURNAL ARTICLE
Elisa Vegezzi, Andrea Cortese, Niels Bergsland, Roberta Mussinelli, Matteo Paoletti, Francesca Solazzo, Riccardo Currò, Lucia Ascagni, Ilaria Callegari, Ilaria Quartesan, Alessandro Lozza, Xeni Deligianni, Francesco Santini, Enrico Marchioni, Giuseppe Cosentino, Enrico Alfonsi, Cristina Tassorelli, Stefano Bastianello, Giampaolo Merlini, Giovanni Palladini, Laura Obici, Anna Pichiecchio
BACKGROUND: The development of reproducible and sensitive outcome measures has been challenging in hereditary transthyretin (ATTRv) amyloidosis. Recently, quantification of intramuscular fat by magnetic resonance imaging (MRI) has proven as a sensitive marker in patients with other genetic neuropathies. The aim of this study was to investigate the role of muscle quantitative MRI (qMRI) as an outcome measure in ATTRv. METHODS: Calf- and thigh-centered multi-echo T2-weighted spin-echo and gradient-echo sequences were obtained in patients with ATTRv amyloidosis with polyneuropathy (n = 24) and healthy controls (n = 12)...
September 6, 2022: Journal of Neurology
#8
JOURNAL ARTICLE
Roberto De Icco, Alessia Putortì, Marta Allena, Micol Avenali, Carlotta Dagna, Daniele Martinelli, Silvano Cristina, Valentina Grillo, Mauro Fresia, Vito Bitetto, Giuseppe Cosentino, Francesca Valentino, Enrico Alfonsi, Giorgio Sandrini, Antonio Pisani, Cristina Tassorelli
Background: Pisa syndrome (PS) is a frequent postural complication of Parkinson's disease (PD). PS poorly responds to anti-parkinsonian drugs and the improvement achieved with neurorehabilitation tends to fade in 6 months or less. Transcranial direct current stimulation (t-DCS) is a non-invasive neuromodulation technique that showed promising results in improving specific symptoms in different movement disorders. Objectives: This study aimed to evaluate the role of bi-hemispheric t-DCS as an add-on to a standardized hospital rehabilitation program in the management of PS in PD...
2022: Frontiers in Neurology
#9
JOURNAL ARTICLE
Massimiliano Todisco, Giuseppe Cosentino, Serena Scardina, Mauro Fresia, Paolo Prunetti, Antonio Pisani, Enrico Alfonsi
BACKGROUND: It is debated whether external anal sphincter (EAS) electromyography can distinguish between multiple system atrophy (MSA) and Parkinson's disease (PD), whereas its usefulness for MSA prognosis is unknown. OBJECTIVES: We explored the diagnostic and prognostic value and clinical correlations of EAS electromyography patterns in MSA. METHODS: We collected clinical data and EAS electromyography findings in 72 patients with MSA and 21 with PD...
May 2022: Movement Disorders: Official Journal of the Movement Disorder Society
#10
Giuliana Capece, Mauro Ceroni, Enrico Alfonsi, Ilaria Palmieri, Cristina Cereda, Luca Diamanti
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons. Although its etiology is still unknown, many genes have been found to be implicated in ALS pathogenesis. The Cu/Zn superoxide dismutase ( SOD1 ) gene was the first to be identified. Currently, more than 230 mutations in the SOD1 gene have been reported. p.D90A (p. Asp90Ala) is the most common SOD1 mutation worldwide. It shows both autosomal and recessive inheritance in different populations. To date, five Italian patients with the heterozygous p...
2021: Frontiers in Neurology
#11
REVIEW
Antonio Schindler, Nicole Pizzorni, Emanuele Cereda, Giuseppe Cosentino, Micol Avenali, Cristina Montomoli, Giovanni Abbruzzese, Angelo Antonini, Filippo Barbiera, Marco Benazzo, Eduardo Benarroch, Giulia Bertino, Pere Clavè, Pietro Cortelli, Roberto Eleopra, Chiara Ferrari, Shaheen Hamdy, Maggie-Lee Huckabee, Leonardo Lopiano, Rosario Marchese-Ragona, Stefano Masiero, Emilia Michou, Antonio Occhini, Claudio Pacchetti, Ronald F Pfeiffer, Domenico A Restivo, Mariangela Rondanelli, Giovanni Ruoppolo, Giorgio Sandrini, Anthony Schapira, Fabrizio Stocchi, Eduardo Tolosa, Francesca Valentino, Mauro Zamboni, Roberta Zangaglia, Mario Zappia, Cristina Tassorelli, Enrico Alfonsi
BACKGROUND: Dysphagia is common in Parkinson's disease (PD). The effects of antiparkinsonian drugs on dysphagia are controversial. Several treatments for dysphagia are available but there is no consensus on their efficacy in PD. OBJECTIVE: To conduct a systematic review of the literature and to define consensus statements on the treatment of dysphagia in PD and related nutritional management. METHODS: A multinational group of experts in the field of neurogenic dysphagia and/or Parkinson's disease conducted a systematic evaluation of the literature and reported the results according to PRISMA guidelines...
November 15, 2021: Journal of the Neurological Sciences
#12
JOURNAL ARTICLE
Luca Diamanti, Alberto Picca, Paola Bini, Matteo Gastaldi, Enrico Alfonsi, Anna Pichiecchio, Eugenia Rota, Roberta Rudà, Francesco Bruno, Veronica Villani, Edvina Galiè, Alberto Vogrig, Mariarosaria Valente, Marco Zoccarato, Valentina Poretto, Bruno Giometto, Carolina Cimminiello, Michele Del Vecchio, Enrico Marchioni
BACKGROUND: Neurological immune-related adverse events (nirAEs) are rare toxicities of immune-checkpoint inhibitors (ICI). With the increase of ICI oncological indications, their incidence is growing. Their recognition and management remain nevertheless challenging. METHODS: A national, web-based database was built to collect cases of neurological symptoms in patients receiving ICI and not attributable to other causes after an adequate workup. RESULTS: We identified 27 patients who developed nirAEs (20 males, median age 69 years)...
March 2022: Neurological Sciences
#13
REVIEW
Giuseppe Cosentino, Micol Avenali, Antonio Schindler, Nicole Pizzorni, Cristina Montomoli, Giovanni Abbruzzese, Angelo Antonini, Filippo Barbiera, Marco Benazzo, Eduardo Elias Benarroch, Giulia Bertino, Emanuele Cereda, Pere Clavè, Pietro Cortelli, Roberto Eleopra, Chiara Ferrari, Shaheen Hamdy, Maggie-Lee Huckabee, Leonardo Lopiano, Rosario Marchese Ragona, Stefano Masiero, Emilia Michou, Antonio Occhini, Claudio Pacchetti, Ronald F Pfeiffer, Domenico A Restivo, Mariangela Rondanelli, Giovanni Ruoppolo, Giorgio Sandrini, Anthony H V Schapira, Fabrizio Stocchi, Eduardo Tolosa, Francesca Valentino, Mauro Zamboni, Roberta Zangaglia, Mario Zappia, Cristina Tassorelli, Enrico Alfonsi
BACKGROUND: Parkinson's disease (PD) is a neurodegenerative disorder characterized by a combination of motor and non-motor dysfunction. Dysphagia is a common symptom in PD, though it is still too frequently underdiagnosed. Consensus is lacking on screening, diagnosis, and prognosis of dysphagia in PD. OBJECTIVE: To systematically review the literature and to define consensus statements on the screening and the diagnosis of dysphagia in PD, as well as on the impact of dysphagia on the prognosis and quality of life (QoL) of PD patients...
March 2022: Journal of Neurology
#14
REVIEW
Enrico Alfonsi, Massimiliano Todisco, Mauro Fresia, Cristina Tassorelli, Giuseppe Cosentino
Electrokinesiographic study of swallowing (EKSS) can be useful for the assessment of patients with suspected or overt neurogenic dysphagia. EKSS consists of multichannel recording of the electromyographic (EMG) activity of the suprahyoid/submental muscle complex (SHEMG), the EMG activity of the cricopharyngeal muscle (CPEMG), and the laryngopharyngeal mechanogram (LPM). The LPM is an expression of the mechanical changes that the laryngopharyngeal structures undergo during the pharyngeal phase of swallowing...
July 27, 2021: Dysphagia
#15
JOURNAL ARTICLE
Pietro Businaro, Gloria Vaghi, Enrico Marchioni, Luca Diamanti, Sebastiano Arceri, Paola Bini, Elena Colombo, Giuseppe Cosentino, Enrico Alfonsi, Alfredo Costa, Sabrina Ravaglia, Giulia Mallucci, Elena Ballante, Diego Franciotta, Matteo Gastaldi
INTRODUCTION/AIMS: Coronavirus disease 2019 (COVID-19), a disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, has become a global pandemic. Patients with myasthenia gravis (MG), often treated with immunosuppressants, might be at higher risk of developing COVID-19 and of demonstrating a severe disease course. We aimed to study prevalence and describe features of COVID-19 in MG patients. METHODS: In May 2020, we conducted telephonic interviews with MG patients followed at our referral center...
August 2021: Muscle & Nerve
#16
JOURNAL ARTICLE
Giuseppe Cosentino, Vincenzo Di Stefano, Rosalia Lo Presti, Maria Montana, Massimiliano Todisco, Matteo Gastaldi, Andrea Cortese, Enrico Alfonsi, Cristina Tassorelli, Brigida Fierro, Gregorio Caimi, Filippo Brighina
BACKGROUND: Matrix metalloproteinases (MMPs) are a heterogeneous family of endopeptidases that play a role in many physiological functions, including the immune response. An imbalance between the activity of MMPs and their physiological tissue inhibitors (TIMPs) has been proposed in the pathophysiology of different autoimmune disorders. We aimed to assess the plasmatic levels of MMP-2, MMP-9, and their inhibitors TIMP-1 and -2 in patients with chronic inflammatory demyelinating polyneuropathy (CIDP)...
May 14, 2021: Neurological Sciences
#17
JOURNAL ARTICLE
Riccardo Currò, Alessandro Salvalaggio, Stefano Tozza, Chiara Gemelli, Natalia Dominik, Valentina Galassi Deforie, Francesca Magrinelli, Francesca Castellani, Elisa Vegezzi, Pietro Businaro, Ilaria Callegari, Anna Pichiecchio, Giuseppe Cosentino, Enrico Alfonsi, Enrico Marchioni, Silvia Colnaghi, Simone Gana, Enza Maria Valente, Cristina Tassorelli, Stephanie Efthymiou, Stefano Facchini, Aisling Carr, Matilde Laura, Alexander M Rossor, Hadi Manji, Michael P Lunn, Elena Pegoraro, Lucio Santoro, Marina Grandis, Emilia Bellone, Nicholas J Beauchamp, Marios Hadjivassiliou, Diego Kaski, Adolfo M Bronstein, Henry Houlden, Mary M Reilly, Paola Mandich, Angelo Schenone, Fiore Manganelli, Chiara Briani, Andrea Cortese
After extensive evaluation, one-third of patients affected by polyneuropathy remain undiagnosed and are labelled as having chronic idiopathic axonal polyneuropathy, which refers to a sensory or sensory-motor, axonal, slowly progressive neuropathy of unknown origin. Since a sensory neuropathy/neuronopathy is identified in all patients with genetically confirmed RFC1 cerebellar ataxia, neuropathy, vestibular areflexia syndrome, we speculated that RFC1 expansions could underlie a fraction of idiopathic sensory neuropathies also diagnosed as chronic idiopathic axonal polyneuropathy...
June 22, 2021: Brain
#18
REVIEW
Giovanna Calandra-Buonaura, Enrico Alfonsi, Luca Vignatelli, Eduardo E Benarroch, Giulia Giannini, Alex Iranzo, Phillip A Low, Paolo Martinelli, Federica Provini, Niall Quinn, Eduardo Tolosa, Gregor K Wenning, Giovanni Abbruzzese, Pamela Bower, Angelo Antonini, Kailash P Bhatia, Jacopo Bonavita, Maria Teresa Pellecchia, Nicole Pizzorni, François Tison, Imad Ghorayeb, Wassilios G Meissner, Tetsutaro Ozawa, Claudio Pacchetti, Nicolò Gabriele Pozzi, Claudio Vicini, Antonio Schindler, Pietro Cortelli, Horacio Kaufmann
Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by a combination of autonomic failure plus cerebellar syndrome and/or parkinsonism. Dysphagia is a frequent and disabling symptom in MSA and its occurrence within 5 years of motor onset is an additional diagnostic feature. Dysphagia can lead to aspiration pneumonia, a recognized cause of death in MSA. Guidelines for diagnosis and management of dysphagia in MSA are lacking. An International Consensus Conference among experts with methodological support was convened in Bologna to reach consensus statements for the diagnosis, prognosis, and treatment of dysphagia in MSA...
May 2021: Parkinsonism & related Disorders
#19
JOURNAL ARTICLE
Sabrina Ravaglia, Lorenzo Maggi, Antonio Zito, Sebastiano Arceri, Pietro Gallotti, Concetta Altamura, Jean Francois Desaphy, Pia Bernasconi, Enrico Alfonsi
INTRODUCTION/AIMS: Paramyotonia congenita (PMC) is a skeletal muscle sodium channelopathy characterized by paradoxical myotonia, cold sensitivity, and exercise/cold-induced paralysis. Treatment with sodium-channel-blocking antiarrhythmic agents may expose patients to a risk of arrhythmia or may be poorly tolerated or ineffective. In this study we explored the effectiveness of non-antiarrhythmic sodium-channel blockers in two patients with PMC. METHODS: Earlier treatment with mexiletine was discontinued for gastrointestinal side effects in one of the patients and lack of clinical benefit in the other...
July 2021: Muscle & Nerve
#20
JOURNAL ARTICLE
Micol Avenali, Daniele Martinelli, Massimiliano Todisco, Isabella Canavero, Francesca Valentino, Giuseppe Micieli, Enrico Alfonsi, Cristina Tassorelli, Giuseppe Cosentino
Background: The clinical spectrum of coronavirus disease 2019 (COVID-19), due to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, may be quite wide, including neurological symptoms. Among them, para-infectious or post-infectious neurological syndromes (PINS), caused by an inflammatory response against the central and/or peripheral nervous system, have been reported. The aim of this paper is to illustrate the functional and neurophysiological recovery in a series of subjects with COVID-19-related PINS who underwent intensive neurorehabilitation...
2021: Frontiers in Neurology
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