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287 results on '"JESSICA MANDRIOLI"'

251. Patologie del sistema nervoso vegetativo

Author

Jessica Mandrioli, Pietro Cortelli, SGHIRLANZONI A., LAURIA G., NARDOCCI N., PAREYON D., Mandrioli J., and Cortelli P.

Subjects
disturbi sfinterici, ipotensione ortostatica, iperidrosi
Abstract

I disturbi della sudorazione comprendono l’iperidrosi, caratterizzata da esagerato incremento dell’attivita sudoripara, l’ipoidrosi e l’anidrosi, nelle quali si verifica una patologica riduzione o assenza della secrezione ghiandolare.

258. The HFE p.HIS63ASP polymorphism modifies ALS outcome in patients with SOD1 mutations

Author

Chiò, A., Calvo, A., Mora, G., Brunetti, M., Barberis, M., Borghero, G., Caponnetto, C., Monsurrò, Mr, La Bella, V., Volanti, P., Simone, I., Salvi, F., Logullo, F., Nilo, R., Tremolizzo, L., Giannini, F., JESSICA MANDRIOLI, Tanel, R., Murru, Mr, Mandich, P., Conforti, Fl, Italsgen, Consortium, Sardinials, Consortium, Zollino, M., Lattante, S., Sabatelli, M., Tarlarini, C., Penco, S., Russo, M., Messina, S., Lunetta, C., Meininger, V., Clavelou, P., and Camu, W.

Subjects
HFE mutation, ALS

259. Amyotrophic lateral sclerosis: prognostic indicators of survival

Author

Patrizia Sola, Jessica Mandrioli, Paolo Frigio Nichelli, and P. Faglioni

Subjects
sopravvivenza, Adult, Male, medicine.medical_specialty, medicine.medical_treatment, fattori prognostici, Kaplan-Meier Estimate, Disease, Risk Assessment, Age Distribution, Risk Factors, Percutaneous endoscopic gastrostomy, Internal medicine, Outcome Assessment, Health Care, medicine, Humans, Sex Distribution, Amyotrophic lateral sclerosis, Survival rate, Survival analysis, Aged, Sclerosi laterale amiotrofica, business.industry, Amyotrophic Lateral Sclerosis, General Medicine, Middle Aged, Prognosis, medicine.disease, Surgery, Survival Rate, Log-rank test, medicine.anatomical_structure, Italy, Neurology, Upper limb, Female, Neurology (clinical), business
Abstract

Amyotrophic lateral sclerosis (ALS) has a fatal outcome in about three years, but survival is known to vary considerably, making it difficult to predict disease duration in individual cases. The aim of this study was to investigate possible early prognostic factors of ALS survival. We included 123 probable or definite cases of ALS, with disease onset between 1989 and 1998, and with a follow-up of at least one year. Survival functions were obtained using both the Kaplan-Meier and the actuarial methods. Subgroups, formed on the basis of gender, area of residence, work, and age at and site of onset, were compared using the logrank test and Cox's proportional hazards method (survival functions), and applying the Grizzle, Starmer, Koch (1969), and Koch, Johnson, Tolley (1972) methods (one-year survival probability trends). The survival curves dipped sharply in the first three years, followed by a flattening trend, with 50% of patients dying within 2.5 years, and 89% over seven years. The clinical form with lower limb onset was associated with longer survival than the upper limb onset and bulbar forms (median survival: 39, 27, and 25 months, respectively). Survival was also affected by age at onset (median survival: 34, 27, and 23 months for onset60, 60-75, and75 years, respectively), area of residence (median survival: 24 months in mountainous areas, 32 elsewhere), and type of work (median survival: 25 months in agricultural workers, 33.5 in others). Gender did not influence survival, whereas percutaneous endoscopic gastrostomy placement and invasive ventilation did. The estimation of individual ALS survival is important to allow the patient to plan for his future and to make optimal use of medical and community resources. Although age at and site of onset, area of residence, and agricultural work were found to influence survival, there remains an unexplained heterogeneous progression of the disease, suggesting the influence of other, as yet unknown, prognostic factors. The identification of a definite set of prognostic factors may allow physicians to make more reliable survival predictions at diagnosis.

260. Reduced levels of alpha-1-antitrypsin in cerebrospinal fluid of amyotrophic lateral sclerosis patients: a novel approach for a potential treatment

Author

Elena Proskura, Yoram Finkelstein, Marco Vinceti, Berta Brodsky, Jessica Mandrioli, Amnon Sintov, Uri Wormser, and Nicola Fini

Subjects
Adult, Male, 0301 basic medicine, Nervous system, medicine.medical_specialty, Pathology, congenital, hereditary, and neonatal diseases and abnormalities, Neurology, medicine.medical_treatment, Immunology, Short Report, Alpha (ethology), Interleukin-23, Gastroenterology, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Cerebrospinal fluid, Immune system, Antitrypsin, Internal medicine, Humans, Medicine, Motor neuron disease, Amyotrophic lateral sclerosis, Aged, business.industry, General Neuroscience, Amyotrophic Lateral Sclerosis, Antitrypsin, Amyotrophic lateral sclerosis, Motor neuron disease, Cerebrospinal fluid, ALS, MND, Middle Aged, Motor neuron, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Cytokine, alpha 1-Antitrypsin, Female, ALS, business, Biomarkers, MND, 030217 neurology & neurosurgery
Abstract

Background Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative motor neuron disease that involves activation of the immune system and inflammatory response in the nervous system. Reduced level of the immuno-modulatory and anti-inflammatory protein alpha-1-antitrypsin (AAT) is associated with inflammation-related pathologies. The objective of the present is to determine AAT levels and IL-23 in the cerebrospinal fluid (CSF) of ALS patients and control group. Findings CSF samples from newly diagnosed ALS patients and age-matched controls were analyzed for AAT and IL-23 by ELISA and magnetic luminex screening, respectively. A statistically significant reduction of 45 % in mean AAT levels was observed in the CSF of ALS patients (21.4 μg/ml) as compared to the control group (mean 38.8 μg/ml, p = 0.013). A statistically significant increase of 30.8 % in CSF mean levels of the pro-inflammatory cytokine IL-23 was observed in ALS patients (1647 pg/ml) in comparison to the controls (1259 pg/ml, p = 0.012). A negative correlation coefficient (r = −0.543) was obtained by linear regression analysis of the two measured parameters (p = 0.036). Conclusions Reduced AAT and elevated IL-23 CSF levels support the notion of neuroinflammatory process occurring in ALS patients. Increasing AAT levels in the patients’ nervous system should be further investigated as a new therapeutic approach and a novel potential tool for ALS treatment.

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265. C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

Author

Mario, Sabatellia, Francesca Luisa Conforti, Marcella, Zollinoc, Gabriele, Morad, Maria Rosaria Monsurrò, Paolo, Volanti, Kalliopi, Marinoud, Fabrizio, Salvig, Massimo, Corbo, Fabio, Giannini, Stefania, Battistini, Silvana, Penco, Christian, Lunetta, Aldo, Quattrone, Antonio, Gambardella, Giancarlo, Logroscino, Isabella, Simone, Ilaria, Bartolomei, Fabrizio, Pisano, Gioacchino, Tedeschi, Amelia, Conte, Rossella, Spataro, Vincenzo La Bella, Claudia, Caponnetto, Gianluigi, Mancardi, Paola, Mandich, Patrizia, Sola, Jessica, Mandrioli, Renton, Alan E., Elisa, Majounie, Yevgeniya, Abramzon, Francesco, Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Maria Alessandra Sotgiu, Maura, Pugliatti, Rodolico, Carmelo, the ITALSGEN Consortium: Stefania Cammarosano, Giuseppe, Fuda, Antonio, Canosa, Sara, Gallo, Laura, Papetti, Giuseppe Lauria Pinter, Marco, Luigetti, Serena, Lattante, Giuseppe, Marangi, Tiziana, Colletti, Claudia, Ricci, Paola, Origone, Gianluca, Floris, Antonino, Cannas, Valeria, Piras, Emanuela, Costantino, Carla, Pani, Parish, Leslie D., Paola, Cossu, Giuliana, Solinas, Lucia, Ulgheri, Anna, Ticca, Francesco, Izzo, Anna, Laiola, Francesca, Trojsi, Portaro, Simona, William, Sproviero, Cristina, Moglia, Andrea, Calvo, Irene, Ossola, Maura, Brunetti, Traynor, Bryan J., Giuseppe, Borghero, Gabriella, Restagno, Adriano, Chiò, Sabatelli, M, Conforti, Fl, Zollino, M, Mora, G, Monsurro', Maria Rosaria, Volanti, P, Marinou, K, Salvi, F, Corbo, M, Giannini, F, Battistini, S, Penco, S, Lunetta, C, Quattrone, A, Gambardella, A, Logroscino, G, Simone, I, Bartolomei, I, Pisano, F, Tedeschi, Gioacchino, Conte, A, Spataro, R, La Bella, V, Caponnetto, C, Mancardi, G, Mandich, P, Sola, P, Mandrioli, J, Renton, Ae, Majounie, E, Abramzon, Y, Marrosu, F, Marrosu, Mg, Murru, Mr, Sotgiu, Ma, Pugliatti, M, Rodolico, C, ITALSGEN Consortium: Cammarosano, Stefania, Fuda, Giuseppe, Canosa, Antonio, Gallo, Sara, Papetti, Laura, Lauria Pinter, Giuseppe, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Colletti, Tiziana, Ricci, Claudia, Origone, Paola, Floris, Gianluca, Cannas, Antonino, Piras, Valeria, Costantino, Emanuela, Pani, Carla, Parish, Leslie D, Cossu, Paola, Solinas, Giuliana, Lucia, U. l. g. h. e. r. i., Ticca, Anna, Izzo, Francesco, Laiola, Anna, Trojsi, Francesca, Portaro, Simona, Sproviero, William, Moglia, C, Calvo, A, Ossola, I, Brunetti, M, Traynor, Bj, Borghero, G, Restagno, G, Chiò, A., Sabatelli, M., Conforti, F., Zollino, M., Mora, G., Monsurrò, M., Volanti, P., Marinou, K., Salvi, F., Corbo, M., Giannini, F., Battistini, S., Penco, S., Lunetta, C., Quattrone, A., Gambardella, A., Logroscino, G., Simone, I., Bartolomei, I., Pisano, F., Tedeschi, G., Conte, A., Spataro, R., LA BELLA, V., Caponnetto, C., Mancardi, G., Mandich, P., Sola, P., Mandrioli, J., Renton, A., Majounie, E., Abramzon, Y., Marrosu, F., Marrosu, M., Murru, M., Sotgiu, M., Pugliatti, M., Rodolico, C., Italsgen, C., Moglia, C., Calvo, A., Ossola, I., Brunetti, M., Traynor, B., Borghero, G., and Restagno, G.

Subjects
Male, Aging, Survival, Pedigree chart, Settore MED/03 - GENETICA MEDICA, Repetitive Sequences, 0302 clinical medicine, C9orf72, Polymorphism (computer science), Risk Factors, Prevalence, Amyotrophic lateral sclerosis, Genetics, 0303 health sciences, education.field_of_study, General Neuroscience, Single Nucleotide, Middle Aged, 3. Good health, Settore MED/26 - NEUROLOGIA, Italy, Female, Settore MED/26 - Neurologia, Frontotemporal dementia, Genetic Markers, Population, C9ORF72, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, Polymorphism, education, amyotrophic lateral sclerosis, C9orf672, frontotemporal dementia, survival, Amyotrophic lateral sclerosi, 030304 developmental biology, Repetitive Sequences, Nucleic Acid, sporadic, C9orf72 Protein, Nucleic Acid, Amyotrophic lateral sclerosis, C9ORF72, Frontotemporal dementia, Survival, Genetic Variation, Proteins, medicine.disease, Settore BIO/18 - Genetica, Neurology (clinical), Geriatrics and Gerontology, ALS, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Developmental Biology
Abstract

It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (familial ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1,757 Italian sporadic ALS cases, 133 from Sardinia, 101 from Sicily, and 1,523 from mainland Italy. Sixty (3.7%) of 1,624 mainland Italians and Sicilians and 9 (6.8%) of the 133 Sardinian sporadic ALS cases carried the pathogenic repeat expansion. None of the 619 regionally-matched control samples (1,238 chromosomes) carried the expansion. Twenty-five cases (36.2%) had behavioral FTD in addition to ALS. FTD or unspecified dementia was also detected in 19 pedigrees (27.5%) in first-degree relatives of ALS patients. Cases carrying the C9ORF72 hexanucleotide expansion survived one year less than cases who did not carry this mutation. In conclusion, we found that C9ORF72 hexanucloetide repeat expansions represents a sizeable proportion of apparent sporadic ALS in the Italian and Sardinian population, representing by far the commonest mutation in Italy and the second more common in Sardinia.

270. Efficacy of erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomised, double blind, placebo controlled, phase III study (IPOS TRIAL)

Author

Lauria, G., Dalla Bella, E., Borghero, G., Capasso, M., Caponnetto, C., Chiò, A., Corbo, M., Eleopra, R., Fazio, R., Filosto, M., Giannini, F., Granieri, E., La Bella, V., Logroscino, G., JESSICA MANDRIOLI, Mazzini, L., Monsurrò, Mr, Mora, G., Morino, S., Pietrini, V., Quatrale, R., Rizzi, R., Salvi, F., Siciliano, G., Sorarù, G., Volanti, P., Tramacere, I., and Filippini, G.

271. FUS/TLS mutations in a large series of Italian and American sporadic and familial ALS

Author

Chio, A., Lai, S., Abramzony, Y., Dunckley, T., Stephan, D., Battistini, S., Giannini, F., La Bella, V., Spataro, S., Salvi, F., Bartolomei, I., JESSICA MANDRIOLI, Sola, P., Caponnetto, C., Mancardi, G., Siciliano, G., Carlesi, C., Monsurrò, M., Tedeschi, G., Mora, G., Maurinou, K., Sabatelli, M., Conte, A., Brunetti, M., Ossola, I., Calvo, A., Moglia, C., Schymick, J., Traynor, B., and Restagno, G.

278. C9ORF72 in a Large Series of Italian and Sardinian Familial and Sporadic ALS Patients

Author

Chio, A., Borghero, G., Sabatelli, M., Corbo, M., Mora, G., Giannini, F., Conforti, F., Penco, S., Calvo, A., Pugliatti, M., Sotgiu, A., Logroscino, G., Traynor, Bj, Renton, A., Majounie, E., Lauria, G., Caponnetto, C., JESSICA MANDRIOLI, Salvi, F., Volanti, P., La Bella, V., Monsurro, M., Zollino, M., Ossola, I., Brunetti, M., and Restagno, G.

285. Colchicine for Amyotrophic Lateral Sclerosis (Co-ALS)

Author

University of Modena and Reggio Emilia, University of Turin, Italy, Istituto Auxologico Italiano, IRCCS National Neurological Institute 'C. Mondino' Foundation, University of Bari, IRCCS San Raffaele, University of Padova, University of Milan, Istituto Di Ricerche Farmacologiche Mario Negri, University of Campania Luigi Vanvitelli, Catholic University of the Sacred Heart, and JESSICA MANDRIOLI, Principal Investigator

Published
2023

286. G507D mutation in FUS gene causes familial amyotrophic lateral sclerosis with a specific genotype-phenotype correlation.

Author

Ilaria, Martinelli, Elisabetta, Zucchi, Viviana, Pensato, Cinzia, Gellera, Bryan J, Traynor, Giulia, Gianferrari, Adriano, Chiò, and Jessica, Mandrioli

Subjects
*AMYOTROPHIC lateral sclerosis, *GENETIC mutation, *MISSENSE mutation, *MOTOR neurons, *DISEASE progression
Abstract

• FUS is a gene commonly implicated in Familial Amyotrophic Lateral Sclerosis. • G507D mutation in FUS was previously associated with sporadic ALS. • Deep family history ascertainment revealed a large ALS family carrying G507Dmt. • Carriers showed slowly progressive ALS with predominance of lower motor neuron signs. • The phenotypic spectrum of FUS extends from fast to slow progressive forms of ALS. Mutations in FUS gene have been described classically in young ALS patients with aggressive disease course. Here we report a large family carrying a missense mutation c.1520 G>A in FUS gene with a tight association with an atypical FUS-ALS phenotype. A 60-year-old man with unilateral leg involvement at onset showed very slow disease progression with selective posterior legs atrophy, tracing his aunt's disease history. His father and uncle died for ALS after a long disease course. Another patient with a 14 years history of ALS with the same phenotype, was found to belong to the same family. In all cases, genetic analysis of FUS gene revealed a missense mutation c.1520 G>A (p.G507D) inherited with a heterozygous pattern. Co-segregation of p.G507D mutation and a specific disease phenotype within the family, characterised by predominant involvement at the lower limbs, slow progression, late bulbar and respiratory failure, demonstrates pathogenicity of this mutation, establishes a well-defined genotype-phenotype correlation and expands the clinical spectrum of heterogeneity in FUS-ALS. [ABSTRACT FROM AUTHOR]

Published
2022
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