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2. Proteolysis in septic shock patients: plasma peptidomic patterns are associated with mortality.

Author

Bauzá-Martinez, J, Aletti, F, Pinto, BB, Ribas, V, Odena, MA, Díaz, R, Romay, E, Ferrer, R, Kistler, EB, Tedeschi, G, Schmid-Schönbein, GW, Herpain, A, Bendjelid, K, and de Oliveira, E

Subjects
Humans, Sepsis, Shock, Septic, Matrix Metalloproteinases, Chymotrypsin, Peptides, Treatment Outcome, Critical Care, Hospital Mortality, Survival Analysis, Prospective Studies, Computer Simulation, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, Young Adult, Proteolysis, in-hospital mortality, mass spectrometry, peptidomics, proteolysis, septic shock, Shock, Septic, and over, Anesthesiology, Clinical Sciences
Abstract

BackgroundUncontrolled proteolysis contributes to cell injury and organ dysfunction in animal models of circulatory shock. We investigated in humans the relationship between septic shock, proteolysis, and outcome.MethodsIntensive care patients with septic shock (n=29) or sepsis (n=6) and non-hospitalised subjects (n=9) were recruited as part of the prospective observational trial 'ShockOmics' (ClinicalTrials.gov Identifier NCT02141607). A mass spectrometry-based approach was used to analyse the plasma peptidomes and the origin of circulating peptides from proteolysis in the enrolled subjects.ResultsEvidence of systemic proteolysis was indicated by a larger number of circulating peptides in septic shock patients, compared with septic patients and non-hospitalised healthy subjects. The peptide count and abundance in the septic shock patients were greater in patients who died (n=6) than in survivors (n=23), suggesting an association between magnitude of proteolysis and outcome. In silico analysis of the peptide sequences and of the sites of cleavage on the proteins of origin indicated a predominant role for serine proteases, such as chymotrypsin, and matrix metalloproteases in causing the observed proteolytic degradation.ConclusionsSystemic proteolysis is a novel fundamental pathological mechanism in septic shock. Plasma peptidomics is proposed as a new tool to monitor clinical trajectory in septic shock patients.Clinical trial registrationNCT02141607.

Published
2018

6. Evaluation of drivers of treatment switch in relapsing multiple sclerosis: a study from the Italian MS Registry

Author

Iaffaldano, P, Lucisano, G, Guerra, T, Patti, F, Cocco, E, De Luca, G, Brescia Morra, V, Pozzilli, C, Zaffaroni, M, Ferraro, D, Gasperini, C, Salemi, G, Bergamaschi, R, Lus, G, Inglese, M, Romano, S, Bellantonio, P, Di Monte, E, Maniscalco, G, Conte, A, Lugaresi, A, Vianello, M, Torri Clerici, V, Di Sapio, A, Pesci, I, Granella, F, Totaro, R, Marfia, G, Danni, M, Cavalla, P, Valentino, P, Aguglia, U, Montepietra, S, Ferraro, E, Protti, A, Spitaleri, D, Avolio, C, De Riz, M, Maimone, D, Cavaletti, G, Gazzola, P, Tedeschi, G, Sessa, M, Rovaris, M, Di Palma, F, Gatto, M, Cargnelutti, D, De Robertis̄, F, Logullo, F, Rini, A, Meucci, G, Ardito, B, Banfi, P, Nasuelli, D, Paolicelli, D, Rocca, M, Portaccio, E, Chisari, C, Fenu, G, Onofrj, M, Carotenuto, A, Ruggieri, S, Tortorella, C, Ragonese, P, Nica, M, Amato, M, Filippi, M, Trojano, M, Iaffaldano P., Lucisano G., Guerra T., Patti F., Cocco E., De Luca G., Brescia Morra V., Pozzilli C., Zaffaroni M., Ferraro D., Gasperini C., Salemi G., Bergamaschi R., Lus G., Inglese M., Romano S., Bellantonio P., Di Monte E., Maniscalco G. T., Conte A., Lugaresi A., Vianello M., Torri Clerici V. L. A., Di Sapio A., Pesci I., Granella F., Totaro R., Marfia G. A., Danni M. C., Cavalla P., Valentino P., Aguglia U., Montepietra S., Ferraro E., Protti A., Spitaleri D., Avolio C., De Riz M., Maimone D., Cavaletti G., Gazzola P., Tedeschi G., Sessa M., Rovaris M., Di Palma F., Gatto M., Cargnelutti D., De Robertis̄ F., Logullo F. O., Rini A., Meucci G., Ardito B., Banfi P., Nasuelli D., Paolicelli D., Rocca M. A., Portaccio E., Chisari C. G., Fenu G., Onofrj M., Carotenuto A., Ruggieri S., Tortorella C., Ragonese P., Nica M., Amato M. P., Filippi M., Trojano M., Iaffaldano, P, Lucisano, G, Guerra, T, Patti, F, Cocco, E, De Luca, G, Brescia Morra, V, Pozzilli, C, Zaffaroni, M, Ferraro, D, Gasperini, C, Salemi, G, Bergamaschi, R, Lus, G, Inglese, M, Romano, S, Bellantonio, P, Di Monte, E, Maniscalco, G, Conte, A, Lugaresi, A, Vianello, M, Torri Clerici, V, Di Sapio, A, Pesci, I, Granella, F, Totaro, R, Marfia, G, Danni, M, Cavalla, P, Valentino, P, Aguglia, U, Montepietra, S, Ferraro, E, Protti, A, Spitaleri, D, Avolio, C, De Riz, M, Maimone, D, Cavaletti, G, Gazzola, P, Tedeschi, G, Sessa, M, Rovaris, M, Di Palma, F, Gatto, M, Cargnelutti, D, De Robertis̄, F, Logullo, F, Rini, A, Meucci, G, Ardito, B, Banfi, P, Nasuelli, D, Paolicelli, D, Rocca, M, Portaccio, E, Chisari, C, Fenu, G, Onofrj, M, Carotenuto, A, Ruggieri, S, Tortorella, C, Ragonese, P, Nica, M, Amato, M, Filippi, M, Trojano, M, Iaffaldano P., Lucisano G., Guerra T., Patti F., Cocco E., De Luca G., Brescia Morra V., Pozzilli C., Zaffaroni M., Ferraro D., Gasperini C., Salemi G., Bergamaschi R., Lus G., Inglese M., Romano S., Bellantonio P., Di Monte E., Maniscalco G. T., Conte A., Lugaresi A., Vianello M., Torri Clerici V. L. A., Di Sapio A., Pesci I., Granella F., Totaro R., Marfia G. A., Danni M. C., Cavalla P., Valentino P., Aguglia U., Montepietra S., Ferraro E., Protti A., Spitaleri D., Avolio C., De Riz M., Maimone D., Cavaletti G., Gazzola P., Tedeschi G., Sessa M., Rovaris M., Di Palma F., Gatto M., Cargnelutti D., De Robertis̄ F., Logullo F. O., Rini A., Meucci G., Ardito B., Banfi P., Nasuelli D., Paolicelli D., Rocca M. A., Portaccio E., Chisari C. G., Fenu G., Onofrj M., Carotenuto A., Ruggieri S., Tortorella C., Ragonese P., Nica M., Amato M. P., Filippi M., and Trojano M.

Abstract

Background: Active relapsing–remitting (RR) and secondary progressive (SP) multiple sclerosis (MS) are currently defined as “relapsing MS” (RMS). The aim of this cross-sectional study was to assess drivers of treatment switches due to clinical relapses in a population of RMS patients collected in the Italian MS and Related Disorders Register (I-MS&RD). Methods: RRMS and SPMS patients with at least one relapse in a time window of 2 years before of data extraction were defined as RMS. Factors associated with disease-modifying therapy (DMT) switching due to clinical activity were assessed through multivariable logistic regression models in which treatment exposure was included as the last recorded DMT and the last DMT’s class [moderate-efficacy (ME), high-efficacy (HE) DMTs and anti-CD20 drugs]. Results: A cohort of 4739 RMS patients (4161 RRMS, 578 SPMS) was extracted from the I-MS&RD. A total of 2694 patients switching DMTs due to relapses were identified. Switchers were significantly (p < 0.0001) younger, less disabled, more frequently affected by an RR disease course in comparison to non-switcher patients. The multivariable logistic regression models showed that Alemtuzumab (OR 0.08, 95% CI 0.02–0.37), Natalizumab (0.48, 0.30–0.76), Ocrelizumab (0.1, 0.02–0.45) and Rituximab (0.23, 0.06–0.82) exposure was a protective factor against treatment switch due to relapses. Moreover, the use of HE DMTs (0.43, 0.31–0.59), especially anti-CD20 drugs (0.14, 0.05–0.37), resulted to be a protective factor against treatment switch due to relapses in comparison with ME DMTs. Conclusions: More than 50% of RMS switched therapy due to disease activity. HE DMTs, especially anti-CD20 drugs, significantly reduce the risk of treatment switch.

Published
2023

7. Incidence and Long-term Functional Outcome of Neurologic Disorders in Hospitalized Patients with COVID-19 Infected with Pre-Omicron Variants

Author

Beretta, S, Cristillo, V, Camera, G, Morotti Colleoni, C, Pellitteri, G, Viti, B, Bianchi, E, Gipponi, S, Grimoldi, M, Valente, M, Guttmann, S, Cotelli, M, Palumbo, P, Gelosa, G, Meletti, S, Schenone, C, Ottaviani, D, Filippi, M, Zini, A, Basilico, P, Tancredi, L, Cortelli, P, Braga, M, De Giuli, V, Servidei, S, Paolicelli, D, Verde, F, Caproni, S, Pisani, A, Lo Re, V, Massacesi, L, Roccatagliata, D, Manganotti, P, Spitaleri, D, Formenti, A, Piccoli, M, Marino, S, Polverino, P, Aguglia, U, Ornello, R, Perego, E, Siciliano, G, Merlo, P, Capobianco, M, Pantoni, L, Lugaresi, A, Angelocola, S, De Rosa, A, Sessa, M, Beghi, E, Agostoni, E, Monaco, S, Padovani, A, Priori, A, Silani, V, Tedeschi, G, Ferrarese, C, Beretta S., Cristillo V., Camera G., Morotti Colleoni C., Pellitteri G., Viti B., Bianchi E., Gipponi S., Grimoldi M., Valente M., Guttmann S., Cotelli M. S., Palumbo P., Gelosa G., Meletti S., Schenone C., Ottaviani D., Filippi M., Zini A., Basilico P., Tancredi L., Cortelli P., Braga M., De Giuli V., Servidei S., Paolicelli D., Verde F., Caproni S., Pisani A., Lo Re V., Massacesi L., Roccatagliata D. V., Manganotti P., Spitaleri D., Formenti A., Piccoli M., Marino S., Polverino P., Aguglia U., Ornello R., Perego E., Siciliano G., Merlo P., Capobianco M., Pantoni L., Lugaresi A., Angelocola S., De Rosa A., Sessa M., Beghi E., Agostoni E. C., Monaco S., Padovani A., Priori A., Silani V., Tedeschi G., Ferrarese C., Beretta, S, Cristillo, V, Camera, G, Morotti Colleoni, C, Pellitteri, G, Viti, B, Bianchi, E, Gipponi, S, Grimoldi, M, Valente, M, Guttmann, S, Cotelli, M, Palumbo, P, Gelosa, G, Meletti, S, Schenone, C, Ottaviani, D, Filippi, M, Zini, A, Basilico, P, Tancredi, L, Cortelli, P, Braga, M, De Giuli, V, Servidei, S, Paolicelli, D, Verde, F, Caproni, S, Pisani, A, Lo Re, V, Massacesi, L, Roccatagliata, D, Manganotti, P, Spitaleri, D, Formenti, A, Piccoli, M, Marino, S, Polverino, P, Aguglia, U, Ornello, R, Perego, E, Siciliano, G, Merlo, P, Capobianco, M, Pantoni, L, Lugaresi, A, Angelocola, S, De Rosa, A, Sessa, M, Beghi, E, Agostoni, E, Monaco, S, Padovani, A, Priori, A, Silani, V, Tedeschi, G, Ferrarese, C, Beretta S., Cristillo V., Camera G., Morotti Colleoni C., Pellitteri G., Viti B., Bianchi E., Gipponi S., Grimoldi M., Valente M., Guttmann S., Cotelli M. S., Palumbo P., Gelosa G., Meletti S., Schenone C., Ottaviani D., Filippi M., Zini A., Basilico P., Tancredi L., Cortelli P., Braga M., De Giuli V., Servidei S., Paolicelli D., Verde F., Caproni S., Pisani A., Lo Re V., Massacesi L., Roccatagliata D. V., Manganotti P., Spitaleri D., Formenti A., Piccoli M., Marino S., Polverino P., Aguglia U., Ornello R., Perego E., Siciliano G., Merlo P., Capobianco M., Pantoni L., Lugaresi A., Angelocola S., De Rosa A., Sessa M., Beghi E., Agostoni E. C., Monaco S., Padovani A., Priori A., Silani V., Tedeschi G., and Ferrarese C.

Abstract

Background and ObjectivesA variety of neurologic disorders have been reported as presentations or complications of coronavirus disease 2019 (COVID-19) infection. The objective of this study was to determine their incidence dynamics and long-term functional outcome.MethodsThe Neuro-COVID Italy study was a multicenter, observational, cohort study with ambispective recruitment and prospective follow-up. Consecutive hospitalized patients presenting new neurologic disorders associated with COVID-19 infection (neuro-COVID), independently from respiratory severity, were systematically screened and actively recruited by neurology specialists in 38 centers in Italy and the Republic of San Marino. The primary outcomes were incidence of neuro-COVID cases during the first 70 weeks of the pandemic (March 2020-June 2021) and long-term functional outcome at 6 months, categorized as full recovery, mild symptoms, disabling symptoms, or death.ResultsAmong 52,759 hospitalized patients with COVID-19, 1,865 patients presenting 2,881 new neurologic disorders associated with COVID-19 infection (neuro-COVID) were recruited. The incidence of neuro-COVID cases significantly declined over time, comparing the first 3 pandemic waves (8.4%, 95% CI 7.9-8.9; 5.0%, 95% CI 4.7-5.3; 3.3%, 95% CI 3.0-3.6, respectively; p = 0.027). The most frequent neurologic disorders were acute encephalopathy (25.2%), hyposmia-hypogeusia (20.2%), acute ischemic stroke (18.4%), and cognitive impairment (13.7%). The onset of neurologic disorders was more common in the prodromic phase (44.3%) or during the acute respiratory illness (40.9%), except for cognitive impairment whose onset prevailed during recovery (48.4%). A good functional outcome was achieved by most patients with neuro-COVID (64.6%) during follow-up (median 6.7 months), and the proportion of good outcome increased throughout the study period (r = 0.29, 95% CI 0.05-0.50; p = 0.019). Mild residual symptoms were frequently reported (28.1%) while disabling s

Published
2023

8. The future of neurology after the COVID-19 pandemic according to neurology residents

Author

Ercoli, T, Barbato, F, Cuffaro, L, Iodice, F, Romoli, M, Tedeschi, G, Berardelli, A, Di Lorenzo, F, Bombaci, A, Ercoli T., Barbato F., Cuffaro L., Iodice F., Romoli M., Tedeschi G., Berardelli A., Di Lorenzo F., Bombaci A., Ercoli, T, Barbato, F, Cuffaro, L, Iodice, F, Romoli, M, Tedeschi, G, Berardelli, A, Di Lorenzo, F, Bombaci, A, Ercoli T., Barbato F., Cuffaro L., Iodice F., Romoli M., Tedeschi G., Berardelli A., Di Lorenzo F., and Bombaci A.

Abstract

Background: The ongoing COVID-19 pandemic has resulted in significant changes in the delivery of neurological disease care and in neurology training in academic departments. Objective: We aimed to investigate how neurology residents viewed the future of neurology after the COVID-19 pandemic with regard to three main aspects: (i) organization of neurological activity, (ii) patient care, and (iii) funding availability for neurological diseases. Methods: We surveyed Italian neurology residents in order to investigate how they viewed the future of neurology after the COVID-19 pandemic. Results: Responses were collected from 254 residents who reported: a high risk of reduction of hospital neurological beds, of worsening of the quality of neurological patient management, and of lack of funding for neurological care and research. Conclusion: The survey results demonstrate the views of future neurologists regarding the direction of neurology after the COVID-19 emergency. It is important to focus on these aspects in order to adapt neurology training to the societal changes introduced by the pandemic, and to safeguard the essential role of neurology in the management and prevention of chronic degenerative illnesses and emergencies.

Published
2023

11. Properties of CdTe layers deposited by a novel method -Pulsed Plasma Deposition

Author

Ancora, C., Nozar, P., Mittica, G., Prescimone, F., Neri, A., Contaldi, S., Milita, S., Albonetti, C., Corticelli, F., Brillante, A., Bilotti, I., Tedeschi, G., and Taliani, C.

Subjects
Condensed Matter - Materials Science
Abstract

CdTe and CdS are emerging as the most promising materials for thin film photovoltaics in the quest of the achievement of grid parity. The major challenge for the advancement of grid parity is the achievement of high quality at the same time as low fabrication cost. The present paper reports the results of the new deposition technique, Pulsed Plasma Deposition (PPD), for the growth of the CdTe layers on CdS/ZnO/quartz and quartz substrates. The PPD method allows to deposit at low temperature. The optical band gap of deposited layers is 1.50 eV, in perfect accord with the value reported in the literature for the crystalline cubic phase of the CdTe. The films are highly crystalline with a predominant cubic phase, a random orientation of the grains of the film and have an extremely low surface roughness of 4.6\pm0.7 nm r.m.s.. The low roughness, compared to traditional thermal deposition methods (close space sublimation and vapour transport) permits the reduction of the active absorber and n-type semiconductor layers resulting in a dramatic reduction of material usage and the relative deposition issues like safety, deposition rate and ultimately cost, Comment: Evaluation of the review "Solar Energy Materials and Solar Cells" is in progress

Published
2011

18. Resting-state functional MRI in multicenter studies on multiple sclerosis: a report on raw data quality and functional connectivity features from the Italian Neuroimaging Network Initiative

Author

De Rosa, A. P., Esposito, F., Valsasina, P., D’Ambrosio, A., Bisecco, A., Rocca, M. A., Tommasin, S., Marzi, C., De Stefano, N., Battaglini, M., Pantano, P., Cirillo, M., Tedeschi, G., Filippi, M., Gallo, A., the INNI Network, Altieri, M., Borgo, R., Capuano, R., Storelli, L., Pagani, E., Sibilia, M., Piervincenzi, C., Ruggieri, S., Petsas, N., Cortese, R., Stromillo, M. L., De Rosa, Alessandro Pasquale, Esposito, Fabrizio, Valsasina, Paola, D'Ambrosio, Alessandro, Bisecco, Alvino, Rocca, Maria A, Tommasin, Silvia, Marzi, Chiara, De Stefano, Nicola, Battaglini, Marco, Pantano, Patrizia, Cirillo, Mario, Tedeschi, Gioacchino, Filippi, Massimo, and Gallo, Antonio

Subjects
Multiple sclerosis, Functional connectivity, Neurology, Functional magnetic resonance imaging, Quality control, Multiple sclerosi, MS, Neurology (clinical), MRI
Abstract

The Italian Neuroimaging Network Initiative (INNI) is an expanding repository of brain MRI data from multiple sclerosis (MS) patients recruited at four Italian MRI research sites. We describe the raw data quality of resting-state functional MRI (RS-fMRI) time-series in INNI and the inter-site variability in functional connectivity (FC) features after unified automated data preprocessing. MRI datasets from 489 MS patients and 246 healthy control (HC) subjects were retrieved from the INNI database. Raw data quality metrics included temporal signal-to-noise ratio (tSNR), spatial smoothness (FWHM), framewise displacement (FD), and differential variation in signals (DVARS). Automated preprocessing integrated white-matter lesion segmentation (SAMSEG) into a standard fMRI pipeline (fMRIPrep). FC features were calculated on pre-processed data and harmonized between sites (Combat) prior to assessing general MS-related alterations. Across centers (both groups), median tSNR and FWHM ranged from 47 to 84 and from 2.0 to 2.5, and median FD and DVARS ranged from 0.08 to 0.24 and from 1.06 to 1.22. After preprocessing, only global FC-related features were significantly correlated with FD or DVARS. Across large-scale networks, age/sex/FD-adjusted and harmonized FC features exhibited both inter-site and site-specific inter-group effects. Significant general reductions were obtained for somatomotor and limbic networks in MS patients (vs. HC). The implemented procedures provide technical information on raw data quality and outcome of fully automated preprocessing that might serve as reference in future RS-fMRI studies within INNI. The unified pipeline introduced little bias across sites and appears suitable for multisite FC analyses on harmonized network estimates.

Published
2022

19. Serine metabolism during differentiation of human iPSC-derived astrocytes

Author

Tripodi, F, Motta, Z, Murtas, G, Rabattoni, V, Nonnis, S, Grassi Scalvini, F, Rinaldi, A, Rizzi, R, Bearzi, C, Badone, B, Sacchi, S, Tedeschi, G, Maffioli, E, Coccetti, P, Pollegioni, L, Tripodi, Farida, Motta, Zoraide, Murtas, Giulia, Rabattoni, Valentina, Nonnis, Simona, Grassi Scalvini, Francesca, Rinaldi, Anna Maria, Rizzi, Roberto, Bearzi, Claudia, Badone, Beatrice, Sacchi, Silvia, Tedeschi, Gabriella, Maffioli, Elisa, Coccetti, Paola, Pollegioni, Loredano, Tripodi, F, Motta, Z, Murtas, G, Rabattoni, V, Nonnis, S, Grassi Scalvini, F, Rinaldi, A, Rizzi, R, Bearzi, C, Badone, B, Sacchi, S, Tedeschi, G, Maffioli, E, Coccetti, P, Pollegioni, L, Tripodi, Farida, Motta, Zoraide, Murtas, Giulia, Rabattoni, Valentina, Nonnis, Simona, Grassi Scalvini, Francesca, Rinaldi, Anna Maria, Rizzi, Roberto, Bearzi, Claudia, Badone, Beatrice, Sacchi, Silvia, Tedeschi, Gabriella, Maffioli, Elisa, Coccetti, Paola, and Pollegioni, Loredano

Abstract

Astrocytes are essential players in development and functions, being particularly relevant as regulators of brain energy metabolism, ionic homeostasis and synaptic transmission. They are also the major source of l-serine in the brain, which is synthesized from the glycolytic intermediate 3-phosphoglycerate through the phosphorylated pathway. l-Serine is the precursor of the two main co-agonists of the N-methyl-d-aspartate receptor, glycine and d-serine. Strikingly, dysfunctions in both l- and d-serine metabolism are associated with neurological and psychiatric disorders. Here, we exploited a differentiation protocol, based on the generation of human mature astrocytes from neural stem cells, and investigated the modification of the proteomic and metabolomic profile during the differentiation process. We show that differentiated astrocytes are more similar to mature rather than to reactive ones, and that axogenesis and pyrimidine metabolism increase up to 30 days along with the folate cycle and sphingolipid metabolism. Consistent with the proliferation and cellular maturation processes that are taking place, also the intracellular levels of l-serine, glycine, threonine, l- and d-aspartate (which level is unexpectedly higher than that of d-serine) show the same biosynthetic time course. A significant utilization of l-serine from the medium is apparent while glycine is first consumed and then released with a peak at 30 days, parallel to its intracellular level. These results underline how metabolism changes during astrocyte differentiation, highlight that d-serine synthesis is restricted in differentiated astrocytes and provide a valuable model for developing potential novel therapeutic approaches to address brain diseases, especially the ones related to serine metabolism alterations.

Published
2023

22. Telephone counseling for smoking cessation: What's in a call?

Author

Zhu, Shu-Hong, Tedeschi, G. J., Anderson, C. M., and Pierce, J. P.

Subjects
tobacco cessation, telephone counseling, intervention protocol
Abstract

Telephone counseling for smoking cessation has gained popularity as studies demonstrate its efficacy. What comprises a successful program, however, has not yet been detailed in the literature. In this article, an innovative telephone counseling intervention for smoking cessation is described, with attention to the clinical issues of client assessment, motivation, self-efficacy, planning, coping, relapse-sensitive call scheduling, and self-image. Counselor training and supervision, ethical and legal considerations regarding this form of service delivery, and suggestions for future direction are also discussed.

Published
1996

23. Signs and symptoms of COVID-19 in patients with multiple sclerosis

Author

Schiavetti I., Carmisciano L., Ponzano M., Cordioli C., Cocco E., Marfia G. A., Inglese M., Filippi M., Radaelli M., Bergamaschi R., Immovilli P., Capobianco M., De Rossi N., Brichetto G., Scandellari C., Cavalla P., Pesci I., Confalonieri P., Perini P., Trojano M., Lanzillo R., Tedeschi G., Comi G., Battaglia M. A., Patti F., Salvetti M., Sormani M. P., Abbadessa G., Aguglia U., Allegorico L., Rossi Allegri B. M., Alteno A., Amato M. P., Annovazzi P., Antozzi C., Appendino L., Arena S., Baione V., Balgera R., Barcella V., Baroncini D., Barrila C., Bellacosa A., Bellucci G., Bergamaschi V., Bezzini D., Biolzi B., Bisecco A., Bonavita S., Borriello G., Bosa C., Bosco A., Bovis F., Bozzali M., Brambilla L., Brescia Morra V., Buccafusca M., Bucciantini E., Bucello S., Buscarinu M. C., Cabboi M. P., Calabrese M., Calabria F., Caleri F., Camilli F., Caniatti L. M., Cantello R., Capra R., Capuano R., Carta P., Celani M. G., Cellerino M., Cerqua R., Chisari C., Clerici R., Clerico M., Cola G., Conte A., Conti M. Z., Cordano C., Cordera S., Corea F., Correale C., Cottone S., Crescenzo F., Curti E., d'Ambrosio A., D'Amico E., Danni M. C., d'Arma A., Dattola V., de Biase S., De Luca G., De Mercanti S. F., De Mitri P., De Stefano N., Della Cava F. M., Cava M. D., Di Lemme S., di Napoli M., Di Sapio A., Docimo R., Dutto A., Evangelista L., Fanara S., Fantozzi R., Ferraro D., Ferro M. T., Fioretti C., Fratta M., Frau J., Fronza M., Furlan R., Gajofatto A., Gallo A., Gallo P., Gasperini C., Ghazaryan A., Giometto B., Gobbin F., Govone F., Granella F., Grange E., Grasso M. G., Grimaldi L. M. E., Guareschi A., Guaschino C., Guerrieri S., Guidetti D., Juergenson I. B., Iaffaldano P., Ianniello A., Iasevoli L., Imperiale D., Infante M. T., Iodice R., Iovino A., Konrad G., Landi D., Lapucci C., Lavorgna L., L'Episcopo M. R., Leva S., Liberatore G., Lo Re M., Longoni M., Lopiano L., Lorefice L., Lucchini M., Lus G., Maimone D., Malentacchi M., Mallucci G., Malucchi S., Mancinelli C. R., Mancinelli L., Manganotti P., Maniscalco G. T., Mantero V., Marangoni S., Marastoni D., Marinelli F., Marti A., Boneschi Martinelli F., Masserano Z. F., Matta F., Mendozzi L., Meucci G., Miante S., Miele G., Milano E., Mirabella M., Missione R., Moccia M., Moiola L., Montepietra S., MontiBragadin M., Montini F., Motta R., Nardone R., Gabri Nicoletti C., Nobile-Orazio E., Nozzolillo A., Onofrj M., Orlandi R., Palmieri A., Paolicelli D., Pasquali L., Pasto L., Pedrazzoli E., Petracca M., Petrone A., Piantadosi C., Pietroboni A. M., Pinardi F., Portaccio E., Pozzato M., Pozzilli C., Prosperini L., Protti A., Ragonese P., Rasia S., Realmuto S., Repice A., Rigoni E., Rilla M. T., Rinaldi F., Romano C. M., Ronzoni M., Rovaris M., Ruscica F., Sabattini L., Salemi G., Saraceno L., Sartori A., Sbragia E., Scarano G. I., Scarano V., Sessa M., Sgarito C., Sibilia G., Siciliano G., Signori A., Signoriello E., Sinisi L., Sireci F., Sola P., Solaro C., Sotgiu S., Sparaco M., Stromillo M. L., Strumia S., Susani E. L., Tabiadon G., Teatini F., Tomassini V., Tonietti S., Torri V., Tortorella C., Toscano S., Totaro R., Trotta M., Turano G., Ulivelli M., Valentino M., Vaula G., Vecchio D., Vercellino M., Verrengia E. P., Vianello M., Virgilio E., Vitetta F., Vollaro S., Zaffaroni M., Zampolini M., Zarbo I. R., Zito A., Zuliani L., Schiavetti, Irene, Carmisciano, Luca, Ponzano, Marta, Cordioli, Cinzia, Cocco, Eleonora, Marfia, Girolama Alessandra, Inglese, Matilde, Filippi, Massimo, Radaelli, Marta, Bergamaschi, Roberto, Immovilli, Paolo, Capobianco, Marco, De Rossi, Nicola, Brichetto, Giampaolo, Scandellari, Cinzia, Cavalla, Paola, Pesci, Ilaria, Confalonieri, Paolo, Perini, Paola, Trojano, Maria, Lanzillo, Roberta, Tedeschi, Gioacchino, Comi, Giancarlo, Battaglia, Mario Alberto, Patti, Francesco, Salvetti, Marco, Sormani, Maria Pia, Gianmarco, Abbadessa, Umberto, Aguglia, Allegorico, Lia, Beatrice Maria Rossi Allegri, Anastasia, Alteno, Amato, MARIA PIA, Pietro, Annovazzi, Carlo, Antozzi, Lucia, Appendino, Sebastiano, Arena, Viola, Baione, Roberto, Balgera, Valeria, Barcella, Damiano, Baroncini, Caterina, Barrilà, Alessandra, Bellacosa, Gianmarco, Bellucci, Valeria, Bergamaschi, Daiana, Bezzini, Beatrice, Biolzi, Bisecco, Alvino, Simona, Bonavita, Giovanna, Borriello, Chiara, Bosa, Antonio, Bosco, Francesca, Bovi, Marco, Bozzali, Laura, Brambilla, BRESCIA MORRA, Vincenzo, Maria, Buccafusca, Elisabetta, Bucciantini, Sebastiano, Bucello, Maria Chiara Buscarinu, Maria Paola Cabboi, Massimiliano, Calabrese, Francesca, Calabria, Francesca, Caleri, Federico, Camilli, Luisa Maria Caniatti, Roberto, Cantello, Ruggero, Capra, Rocco, Capuano, Patrizia, Carta, Maria Grazia Celani, Maria, Cellerino, Raffaella, Cerqua, Clara, Chisari, Raffaella, Clerici, Marinella, Clerico, Gaia, Cola, Antonella, Conte, Marta Zaffira Conti, Christian, Cordano, Susanna, Cordera, Francesco, Corea, Claudio, Correale, Salvatore, Cottone, Francesco, Crescenzo, Erica, Curti, Alessandro, D’Ambrosio, Emanuele, D’Amico, Maura Chiara Danni, Alessia, D’Arma, Vincenzo, Dattola, Stefano de Biase, Giovanna De Luca, Stefania Federica De Mercanti, Paolo De Mitri, Nicola De Stefano, Fabio Maria Della Cava, Marco Della Cava, Sonia Di Lemme, Mario di Napoli, Alessia Di Sapio, Renato, Docimo, Anna, Dutto, Luana, Evangelista, Salvatore, Fanara, Roberta, Fantozzi, Diana, Ferraro, Maria Teresa Ferrò, Cristina, Fioretti, Mario, Fratta, Jessica, Frau, Marzia, Fronza, Roberto, Furlan, Alberto, Gajofatto, Gallo, Antonio, Paolo, Gallo, Claudio, Gasperini, Anna, Ghazaryan, Bruno, Giometto, Francesca, Gobbin, Flora, Govone, Franco, Granella, Erica, Grange, Grasso, MARIA GRAZIA, Grimaldi, Luigi M. E., Angelica, Guareschi, Clara, Guaschino, Simone, Guerrieri, Donata, Guidetti, Ina Barbara Juergenson, Pietro, Iaffaldano, Ianniello, Antonio, Luigi, Iasevoli, Daniele, Imperiale, Maria Teresa Infante, Iodice, Rosa, Iovino, Aniello, Giovanna, Konrad, Doriana, Landi, Caterina, Lapucci, Luigi, Lavorgna, Maria Rita L’Episcopo, Serena, Leva, Giuseppe, Liberatore, Marianna Lo Re, Marco, Longoni, Leonardo, Lopiano, Lorena, Lorefice, Matteo, Lucchini, Lus, Giacomo, Maimone, Davide, Maria, Malentacchi, Giulia, Mallucci, Simona, Malucchi, Chiara Rosa Mancinelli, Luca, Mancinelli, Paolo, Manganotti, Giorgia Teresa Maniscalco, Vittorio, Mantero, Sabrina, Marangoni, Damiano, Marastoni, Fabiana, Marinelli, Marti, NICOLA ALESSANDRO, Filippo Boneschi Martinelli, Zoli Federco Masserano, Francesca, Matta, Laura, Mendozzi, Giuseppe, Meucci, Silvia, Miante, Giuseppina, Miele, Eva, Milano, Massimiliano, Mirabella, Rosanna, Missione, Moccia, Marcello, Lucia, Moiola, Sara, Montepietra, Margherita, Montibragadin, Federico, Montini, Roberta, Motta, Raffaele, Nardone, Carolina Gabri Nicoletti, Eduardo, Nobile‐orazio, Nozzolillo, Agostino, Marco, Onofrj, Riccardo, Orlandi, Anna, Palmieri, Damiano, Paolicelli, Livia, Pasquali, Luisa, Pastò, Elisabetta, Pedrazzoli, Petracca, Maria, Alfredo, Petrone, Carlo, Piantadosi, Pietroboni, Anna M., Federica, Pinardi, Emilio, Portaccio, Mattia, Pozzato, Pozzilli, Carlo, Luca, Prosperini, Alessandra, Protti, Paolo, Ragonese, Sarah, Rasia, Sabrina, Realmuto, Anna, Repice, Eleonora, Rigoni, Maria Teresa Rilla, DELLA RATTA RINALDI, Francesca, Calogero Marcello Romano, Marco, Ronzoni, Marco, Rovari, Francesca, Ruscica, Loredana, Sabattini, Giuseppe, Salemi, Lorenzo, Saraceno, Alessia, Sartori, Arianna, Sartori, Elvira, Sbragia, Giuditta Ilaria Scarano, Valentina, Scarano, Maria, Sessa, Caterina, Sgarito, Sibilia, Grazia, Gabriele, Siciliano, Alessio, Signori, Signoriello, Elisabetta, Sinisi, Leonardo, Francesca, Sireci, Patrizia, Sola, Claudio, Solaro, Stefano, Sotgiu, Maddalena, Sparaco, Maria Laura Stromillo, Silvia, Strumia, Emanuela Laura Susani, Giulietta, Tabiadon, Francesco, Teatini, Valentina, Tomassini, Simone, Tonietti, Valentina, Torri, Tortorella, Carla, Simona, Toscano, Rocco, Totaro, Maria, Trotta, Gabriella, Turano, Monica, Ulivelli, Manzo, Valentino, Giovanna, Vaula, Domizia, Vecchio, Marco, Vercellino, Elena Pinuccia Verrengia, Marika, Vianello, Eleonora, Virgilio, Francesca, Vitetta, Vollaro, Stefano, Mauro, Zaffaroni, Mauro, Zampolini, Ignazio Roberto Zarbo, Antonio, Zito, and Luigi Zuliani, Schiavetti, I., Carmisciano, L., Ponzano, M., Cordioli, C., Cocco, E., Marfia, G. A., Inglese, M., Filippi, M., Radaelli, M., Bergamaschi, R., Immovilli, P., Capobianco, M., De Rossi, N., Brichetto, G., Scandellari, C., Cavalla, P., Pesci, I., Confalonieri, P., Perini, P., Trojano, M., Lanzillo, R., Tedeschi, G., Comi, G., Battaglia, M. A., Patti, F., Salvetti, M., Sormani, M. P., Abbadessa, G., Aguglia, U., Allegorico, L., Rossi Allegri, B. M., Alteno, A., Amato, M. P., Annovazzi, P., Antozzi, C., Appendino, L., Arena, S., Baione, V., Balgera, R., Barcella, V., Baroncini, D., Barrila, C., Bellacosa, A., Bellucci, G., Bergamaschi, V., Bezzini, D., Biolzi, B., Bisecco, A., Bonavita, S., Borriello, G., Bosa, C., Bosco, A., Bovis, F., Bozzali, M., Brambilla, L., Brescia Morra, V., Buccafusca, M., Bucciantini, E., Bucello, S., Buscarinu, M. C., Cabboi, M. P., Calabrese, M., Calabria, F., Caleri, F., Camilli, F., Caniatti, L. M., Cantello, R., Capra, R., Capuano, R., Carta, P., Celani, M. G., Cellerino, M., Cerqua, R., Chisari, C., Clerici, R., Clerico, M., Cola, G., Conte, A., Conti, M. Z., Cordano, C., Cordera, S., Corea, F., Correale, C., Cottone, S., Crescenzo, F., Curti, E., D'Ambrosio, A., D'Amico, E., Danni, M. C., D'Arma, A., Dattola, V., de Biase, S., De Luca, G., De Mercanti, S. F., De Mitri, P., De Stefano, N., Della Cava, F. M., Cava, M. D., Di Lemme, S., di Napoli, M., Di Sapio, A., Docimo, R., Dutto, A., Evangelista, L., Fanara, S., Fantozzi, R., Ferraro, D., Ferro, M. T., Fioretti, C., Fratta, M., Frau, J., Fronza, M., Furlan, R., Gajofatto, A., Gallo, A., Gallo, P., Gasperini, C., Ghazaryan, A., Giometto, B., Gobbin, F., Govone, F., Granella, F., Grange, E., Grasso, M. G., Grimaldi, L. M. E., Guareschi, A., Guaschino, C., Guerrieri, S., Guidetti, D., Juergenson, I. B., Iaffaldano, P., Ianniello, A., Iasevoli, L., Imperiale, D., Infante, M. T., Iodice, R., Iovino, A., Konrad, G., Landi, D., Lapucci, C., Lavorgna, L., L'Episcopo, M. R., Leva, S., Liberatore, G., Lo Re, M., Longoni, M., Lopiano, L., Lorefice, L., Lucchini, M., Lus, G., Maimone, D., Malentacchi, M., Mallucci, G., Malucchi, S., Mancinelli, C. R., Mancinelli, L., Manganotti, P., Maniscalco, G. T., Mantero, V., Marangoni, S., Marastoni, D., Marinelli, F., Marti, A., Boneschi Martinelli, F., Masserano, Z. F., Matta, F., Mendozzi, L., Meucci, G., Miante, S., Miele, G., Milano, E., Mirabella, M., Missione, R., Moccia, M., Moiola, L., Montepietra, S., Montibragadin, M., Montini, F., Motta, R., Nardone, R., Gabri Nicoletti, C., Nobile-Orazio, E., Nozzolillo, A., Onofrj, M., Orlandi, R., Palmieri, A., Paolicelli, D., Pasquali, L., Pasto, L., Pedrazzoli, E., Petracca, M., Petrone, A., Piantadosi, C., Pietroboni, A. M., Pinardi, F., Portaccio, E., Pozzato, M., Pozzilli, C., Prosperini, L., Protti, A., Ragonese, P., Rasia, S., Realmuto, S., Repice, A., Rigoni, E., Rilla, M. T., Rinaldi, F., Romano, C. M., Ronzoni, M., Rovaris, M., Ruscica, F., Sabattini, L., Salemi, G., Saraceno, L., Sartori, A., Sbragia, E., Scarano, G. I., Scarano, V., Sessa, M., Sgarito, C., Sibilia, G., Siciliano, G., Signori, A., Signoriello, E., Sinisi, L., Sireci, F., Sola, P., Solaro, C., Sotgiu, S., Sparaco, M., Stromillo, M. L., Strumia, S., Susani, E. L., Tabiadon, G., Teatini, F., Tomassini, V., Tonietti, S., Torri, V., Tortorella, C., Toscano, S., Totaro, R., Trotta, M., Turano, G., Ulivelli, M., Valentino, M., Vaula, G., Vecchio, D., Vercellino, M., Verrengia, E. P., Vianello, M., Virgilio, E., Vitetta, F., Vollaro, S., Zaffaroni, M., Zampolini, M., Zarbo, I. R., Zito, A., and Zuliani, L.

Subjects
Multiple Sclerosis, Anosmia, Clinical Sciences, neurological disorders, Neurodegenerative, Settore MED/26, demyelinating disease, COVID-19, demyelinating diseases, disease-modifying treatment, multiple sclerosis, Humans, neurological disorder, Aged, Neurology & Neurosurgery, SARS-CoV-2, Pain Research, Neurosciences, Brain Disorders, Settore MED/26 - NEUROLOGIA, Good Health and Well Being, Neurology, multiple sclerosi, Neurology (clinical), MuSC-19 Study Group, Ageusia, Human
Abstract

Background and purpose: Clinical outcomes of multiple sclerosis (MS) patients affected by coronavirus disease 2019 (COVID-19) have been thoroughly investigated, but a further analysis on main signs and symptoms and their risk factors still needs attention. The objective of this study was to group together and describe based on similarity the most common signs and symptoms of COVID-19 in MS patients and identify all factors associated with their manifestation. Method: Logistic and linear regression models were run to recognize factors associated with each pooled group of symptoms and their total number. Results: From March 2020 to November 2021, data were collected from 1354 MS patients with confirmed infection of COVID-19. Ageusia and anosmia was less frequent in older people (odds ratio [OR] 0.98; p=0.005) and more in smoker patients (OR 1.39; p=0.049). Smoke was also associated with an incremental number of symptoms (OR 1.24; p=0.031), substance abuse (drugs or alcohol), conjunctivitis and rash (OR 5.20; p=0.042) and the presence of at least one comorbidity with shortness of breath, tachycardia or chest pain (OR 1.24; p=0.008). Some disease-modifying therapies were associated with greater frequencies of certain COVID-19 symptoms (association between anti-CD20 therapies and increment in the number of concomitant symptoms: OR 1.29; p=0.05). Differences in frequencies between the three waves were found for flu-like symptoms (G1, p=0.024), joint or muscle pain (G2, p=0.013) and ageusia and anosmia (G5, p < 0.001). All cases should be referred to variants up to Delta. Conclusion: Several factors along with the choice of specific therapeutic approaches might have a different impact on the occurrence of some COVID-19 symptoms.

Published
2022

25. Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry

Author

Limongelli G, Iucolano S, Monda E, Elefante P, De Stasio C, Lubrano I, Caiazza M, Mazzella M, Fimiani F, Galdo M, De Marchi G, Esposito M, Rubino M, Cirillo A, Fusco A, Esposito A, Trama U, Esposito S, Scarano G, Sepe J, Andria G, Orlando V, Menditto E, Chiodini P, Campania Rare Disease, Iolascon A, Franzese A, Sanduzzi Zamparelli A, Tessitore A, Romano A, Venosa A, Nunzia Olivieri A, Bianco A, La Manna A, Cerbone AM, Spasiano A, Agnese Stanziola A, Colao A, De Bellis A, Gambale A, Toriello A, Tufano A, Ciampa A, Maria Risitano A, Pisani A, Russo A, Volpe A, De Martino B, Amato B, De Fusco C, Piscopo C, Selleri C, Tucci C, Pignata C, Cioffi D, Melis D, Pasquali D, De Brasi D, Spitaleri D, Russo D, Martellotta D, De Michele E, Varricchio E, Miraglia Del Giudice E, Coscioni E, Cimino E, Pane F, Tranfa F, Pollio F, Lonardo F, Nuzzi F, Simonelli F, Trojsi F, Habetswallner F, Valentini G, Cerbone G, Parenti G, Tedeschi G, Capasso G, Battista Rossi G, Gaglione G, Sarnelli G, Argenziano G, Bellastella G, De Michele G, Fiorentino G, Spadaro G, Scala I, Santoro L, Zeppa L, Auricchio L, Elio Adinolfi L, Alessio M, Amitrano M, Savanelli MC, Russo MG, Ferrucci MG, Carbone MT, Pellecchia MT, Salerno M, Melone M, Del Donno M, Vitale M, Triggiani M, Della Monica M, Lo Presti M, Tenuta M, Mignogna MD, Schiavulli M, Zacchia M, Brunetti-Pierri N, Iovino P, Moscato P, Iandoli R, Scarpa R, Russo R, Troisi S, Sbordone S, Perrotta S, Fecarotta S, Sampaolo S, Cicalese V., Limongelli, Giuseppe, Iucolano, Stefano, Monda, Emanuele, Elefante, Pasquale, De Stasio, Chiara, Lubrano, Imma, Caiazza, Martina, Mazzella, Marialuisa, Fimiani, Fabio, Galdo, Maria, De Marchi, Giulia, Esposito, Martina, Rubino, Marta, Cirillo, Annapaola, Fusco, Adelaide, Esposito, Augusto, Trama, Ugo, Esposito, Salvatore, Scarano, Gioacchino, Sepe, Joseph, Andria, Generoso, Orlando, Valentina, Menditto, Enrica, Chiodini, Paolo, Iolascon, Achille, Franzese, Adriana, Sanduzzi Zamparelli, Alessandro, Tessitore, Alessandro, Romano, Alfonso, Venosa, Alfredo, Nunzia Olivieri, Alma, Bianco, Andrea, La Manna, Angela, Cerbone, Anna Maria, Spasiano, Anna, Agnese Stanziola, Anna, Colao, Annamaria, De Bellis, Annamaria, Gambale, Antonella, Toriello, Antonella, Tufano, Antonella, Ciampa, Antonio, Maria Risitano, Antonio, Pisani, Antonio, Russo, Antonio, Volpe, Antonio, De Martino, Bernardo, Amato, Bruno, De Fusco, Carmela, Piscopo, Carmelo, Selleri, Carmine, Tucci, Celeste, Pignata, Claudio, Cioffi, Daniela, Melis, Daniela, Pasquali, Daniela, De Brasi, Daniele, Spitaleri, Daniele, De Brasi, Davide, Russo, Domenico, Martellotta, Donata, De Michele, Elisa, Varricchio, Elziario, Miraglia Del Giudice, Emanuele, Coscioni, Enrico, Cimino, Ernesto, Pane, Fabrizio, Tranfa, Fausto, Pollio, Filiberto, Lonardo, Fortunato, Nuzzi, Francesca, Simonelli, Francesca, Trojsi, Francesca, Habetswallner, Francesco, Valentini, Gabriele, Cerbone, Gaetana, Parenti, Giancarlo, Tedeschi, Gioacchino, Capasso, Giovambattista, Battista Rossi, Giovanni, Gaglione, Giovanni, Sarnelli, Giovanni, Argenziano, Giuseppe, Bellastella, Giuseppe, De Michele, Giuseppe, Fiorentino, Giuseppe, Spadaro, Giuseppe, Scala, Iri, Santoro, Lucio, Zeppa, Lucio, Auricchio, Luigi, Elio Adinolfi, Luigi, Alessio, Maria, Amitrano, Maria, Savanelli, Maria Cristina, Russo, Maria Giovanna, Ferrucci, Maria Grazia, Carbone, Maria Teresa, Pellecchia, Maria Teresa, Salerno, Mariacarolina, Melone, Marina, Del Donno, Mario, Vitale, Mario, Triggiani, Massimo, Della Monica, Matteo, Lo Presti, Maurizio, Tenuta, Maurizio, Mignogna, Michele Davide, Schiavulli, Michele, Zacchia, Miriam, Brunetti-Pierri, Nicola, Iovino, Paola, Moscato, Paolo, Iandoli, Raffaele, Scarpa, Raffaele, Russo, Romualdo, Troisi, Salvatore, Sbordone, Sandro, Perrotta, Silverio, Fecarotta, Simona, Sampaolo, Simone, Cicalese, Virgilio, Limongelli, G, Iucolano, S, Monda, E, Elefante, P, De Stasio, C, Lubrano, I, Caiazza, M, Mazzella, M, Fimiani, F, Galdo, M, De Marchi, G, Esposito, M, Rubino, M, Cirillo, A, Fusco, A, Esposito, A, Trama, U, Esposito, S, Scarano, G, Sepe, J, Andria, G, Orlando, V, Menditto, E, Chiodini, P, Campania Rare, Disease, Iolascon, A, Franzese, A, Sanduzzi Zamparelli, A, Tessitore, A, Romano, A, Venosa, A, Nunzia Olivieri, A, Bianco, A, La Manna, A, Cerbone, Am, Spasiano, A, Agnese Stanziola, A, Colao, A, De Bellis, A, Gambale, A, Toriello, A, Tufano, A, Ciampa, A, Maria Risitano, A, Pisani, A, Russo, A, Volpe, A, De Martino, B, Amato, B, De Fusco, C, Piscopo, C, Selleri, C, Tucci, C, Pignata, C, Cioffi, D, Melis, D, Pasquali, D, De Brasi, D, Spitaleri, D, Russo, D, Martellotta, D, De Michele, E, Varricchio, E, Miraglia Del Giudice, E, Coscioni, E, Cimino, E, Pane, F, Tranfa, F, Pollio, F, Lonardo, F, Nuzzi, F, Simonelli, F, Trojsi, F, Habetswallner, F, Valentini, G, Cerbone, G, Parenti, G, Tedeschi, G, Capasso, G, Battista Rossi, G, Gaglione, G, Sarnelli, G, Argenziano, G, Bellastella, G, De Michele, G, Fiorentino, G, Spadaro, G, Scala, I, Santoro, L, Zeppa, L, Auricchio, L, Elio Adinolfi, L, Alessio, M, Amitrano, M, Savanelli, Mc, Russo, Mg, Ferrucci, Mg, Carbone, Mt, Pellecchia, Mt, Salerno, M, Melone, M, Del Donno, M, Vitale, M, Triggiani, M, Della Monica, M, Lo Presti, M, Tenuta, M, Mignogna, Md, Schiavulli, M, Zacchia, M, Brunetti-Pierri, N, Iovino, P, Moscato, P, Iandoli, R, Scarpa, R, Russo, R, Troisi, S, Sbordone, S, Perrotta, S, Fecarotta, S, Sampaolo, S, and Cicalese, V.

Subjects
Pediatrics, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Home therapy, rare diseases, 030204 cardiovascular system & hematology, Campania region, Covid-19, Italy, patient registry, Disease Outbreaks, 03 medical and health sciences, COVID-19 Testing, 0302 clinical medicine, Pandemic, Health care, medicine, Retrospective analysis, Humans, AcademicSubjects/MED00860, Registries, 030212 general & internal medicine, Medical diagnosis, Pandemics, Retrospective Studies, business.industry, Public Health, Environmental and Occupational Health, Outbreak, General Medicine, Original Article, business, Delivery of Health Care, Rare disease
Abstract

Background The aims of this study were: to investigate the capacity of the rare disease healthcare network in Campania to diagnose patients with rare diseases during the outbreak of Covid-19; and to shed light on problematic diagnoses during this period. Methods To describe the impact of the Covid-19 pandemic on the diagnosis of patients with rare diseases, a retrospective analysis of the Campania Region Rare Disease Registry was performed. A tailored questionnaire was sent to rare disease experts to investigate major issues during the emergency period. Results Prevalence of new diagnoses of rare disease in March and April 2020 was significantly lower than in 2019 (117 versus 317, P Conclusions This study describes the effects of the Covid-19 outbreak on the diagnosis of rare disease in a single Italian region and investigates potential issues of diagnosis and management during this period.

Published
2021

27. I disturbi psicotici

Author

Montella, P., Buonanno, D., de Stefano, M., Tedeschi, G., Nocentini, Ugo, editor, Caltagirone, Carlo, editor, and Tedeschi, Gioacchino, editor

Published
2010
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31. Correction to: Prevalence and predictors of bowel dysfunction in a large multiple sclerosis outpatient population: an Italian multicenter study (Journal of Neurology, (2022), 269, 3, (1610-1617), 10.1007/s00415-021-10737-w)

Author

Bisecco, A., Fornasiero, A., Bianco, Assunta, Cortese, A., D'Amico, E., Mataluni, G., Sinisi, L., Spitaleri, D., Docimo, R., Buscarinu, M. C., Mirabella, Massimiliano, Crisafulli, S. G., Zanghi, A., Nicoletti, C. G., Salvetti, M., Baione, V., Patti, F., Marfia, A. G., Sibilia, G., Scarano, V., Orlando, D., Stabile, G., Tedeschi, G., Gallo, A., Bisecco, A., Fornasiero, A., Bianco, A., Cortese, A., D'Amico, E., Mataluni, G., Sinisi, L., Spitaleri, D., Docimo, R., Buscarinu, M. C., Mirabella, M., Crisafulli, S. G., Zanghi, A., Nicoletti, C. G., Salvetti, M., Baione, V., Patti, F., Marfia, A. G., Sibilia, G., Scarano, V., Orlando, D., Stabile, G., Tedeschi, G., and Gallo, A.

Subjects
Settore MED/26 - NEUROLOGIA, Multiple Sclerosis, Bowel dysfunction
Abstract

The original version of this article unfortunately contained a mistake. The given and family names of authors were Interchanged except the following author Maria Chiara Buscarinu, Carolina Gabri Nicoletti, Alessandra Girolama Marfia and Antonio Gallo.

Published
2022

35. Telemedicine for management of patients with amyotrophic lateral sclerosis through COVID-19 tail

Author

Bombaci, A, Abbadessa, G, Trojsi, F, Leocani, L, Bonavita, S, Lavorgna, L, Tedeschi, G, Mancardi, G, Padovani, A, Clerico, M, Brigo, F, Lanzillo, R, Russo, A, Giometto, B, Straccia, G, Iodice, R, Bucello, S, Annovazzi, P, Moccia, M, Prosperini, L, Stromillo, M, Repice, A, Miele, G, Lerario, A, De Martino, A, Iodice, F, Di Lorenzo, F, Cuffaro, L, Romoli, M, Silvestro, M, Artusi, C, Bombaci A., Abbadessa G., Trojsi F., Leocani L., Bonavita S., Lavorgna L., Tedeschi G., Mancardi G., Padovani A., Clerico M., Brigo F., Lanzillo R., Russo A., Giometto B., Straccia G., Iodice R., Bucello S., Annovazzi P., Moccia M., Prosperini L., Stromillo M. L., Repice A. M., Miele G., Lerario A., De Martino A., Iodice F., Di Lorenzo F., Cuffaro L., Romoli M., Silvestro M., Artusi C. A., Bombaci, A, Abbadessa, G, Trojsi, F, Leocani, L, Bonavita, S, Lavorgna, L, Tedeschi, G, Mancardi, G, Padovani, A, Clerico, M, Brigo, F, Lanzillo, R, Russo, A, Giometto, B, Straccia, G, Iodice, R, Bucello, S, Annovazzi, P, Moccia, M, Prosperini, L, Stromillo, M, Repice, A, Miele, G, Lerario, A, De Martino, A, Iodice, F, Di Lorenzo, F, Cuffaro, L, Romoli, M, Silvestro, M, Artusi, C, Bombaci A., Abbadessa G., Trojsi F., Leocani L., Bonavita S., Lavorgna L., Tedeschi G., Mancardi G., Padovani A., Clerico M., Brigo F., Lanzillo R., Russo A., Giometto B., Straccia G., Iodice R., Bucello S., Annovazzi P., Moccia M., Prosperini L., Stromillo M. L., Repice A. M., Miele G., Lerario A., De Martino A., Iodice F., Di Lorenzo F., Cuffaro L., Romoli M., Silvestro M., and Artusi C. A.

Abstract

Over the last months, due to coronavirus disease (COVID-19) pandemic, containment measures have led to important social restriction. Healthcare systems have faced a complete rearrangement of resources and spaces, with the creation of wards devoted to COVID-19 patients. In this context, patients affected by chronic neurological diseases, such as amyotrophic lateral sclerosis (ALS), are at risk to be lost at follow-up, leading to a higher risk of morbidity and mortality. Telemedicine may allow meet the needs of these patients. In this commentary, we briefly discuss the digital tools to remotely monitor and manage ALS patients. Focusing on detecting disease progression and preventing life-threatening conditions, we propose a toolset able to improve ALS management during this unprecedented situation.

Published
2021

36. COVID-19 impact on neurology training program in Italy

Author

Di Lorenzo, F, Ercoli, T, Cuffaro, L, Barbato, F, Iodice, F, Tedeschi, G, Bombaci, A, Di Lorenzo F., Ercoli T., Cuffaro L., Barbato F., Iodice F., Tedeschi G., Bombaci A., Di Lorenzo, F, Ercoli, T, Cuffaro, L, Barbato, F, Iodice, F, Tedeschi, G, Bombaci, A, Di Lorenzo F., Ercoli T., Cuffaro L., Barbato F., Iodice F., Tedeschi G., and Bombaci A.

Abstract

The ongoing COVID-19 pandemic is having a huge impact on clinical activity of all hospitals, including the ones involved in training of residents. In addition, neurology residents underwent substantial modifications of their training program. Aim of our investigation was to evaluate the impact of COVID-19 pandemic on the educational activities of Italian neurology residents through an online questionnaire delivered to neurology residents. The results obtained showed that almost 30% of the respondents were redistributed to COVID-19 units. Neurology departments underwent substantial modifications of their organization influencing clinical educational activities; lessons and seminars were rescheduled online and research protocols were stopped and transferred to remote working, when feasible. There was a relevant use of telemedicine approach even if most of the respondents had never been trained before. Some of the changes had a North-South gradient, following the epidemiology of the pandemic. The data obtained from our survey highlight those points to address to be prepared for possible future emergencies.

Published
2021

38. List of Contributors

Author

Alvarez-Suarez, P., primary, Anand, S., additional, Aral, A.L., additional, Begega, A., additional, Beurskens, R., additional, Bonavita, S., additional, Cohen, R.W., additional, Cowan, M., additional, Cruz, A., additional, Cuesta, M., additional, Dalecki, M., additional, Damasceno, W.C., additional, Díaz-Castro, J., additional, Fannon-Pavlich, M.J., additional, Fonseca, C.G., additional, Hasegawa, H., additional, Hernandez, R.A., additional, Herting, M.M., additional, Hijano, S., additional, Hiura, M., additional, Ichiyama, R.M., additional, Kajarabille, N., additional, Keenan, M.F., additional, Kunstetter, A.C., additional, Leelayuwat, N., additional, Mandyam, C.D., additional, Martins, R.N., additional, Moreno-Fernández, J., additional, Nariai, T., additional, Ochoa, J.J., additional, Pedroso, R.V., additional, Perrey, S., additional, Pinar, L., additional, Prieto, G.A., additional, Pulido-Morán, M., additional, Ravikiran, T., additional, Sampedro-Piquero, P., additional, Sehm, B., additional, Shah, T.M., additional, Shanmugam, M.S., additional, Snigdha, S., additional, Somkuwar, S.S., additional, Stein, A.M., additional, Tedeschi, G., additional, Tierney, W.M., additional, Uhlendorf, T.L., additional, Vani, R., additional, Wanner, S.P., additional, Watson, J., additional, Welman, K.E., additional, Yoder, A., additional, and Zheng, X., additional

Published
2017
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39. 3.0 T Imaging of Brain Tumours

Author

Di Costanzo, A., Trojsi, F., Popolizio, T., Giannatempo, G. M., Simeone, A., Pollice, S., Catapano, D., Tosetti, M., Maggialetti, N., d’Angelo, V. A., Carriero, A., Salvolini, U., Tedeschi, G., Scarabino, T., Salvolini, Ugo, editor, and Scarabino, Tommaso, editor

Published
2006
Full Text
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40. Being the Family Caregiver of a Patient With Dementia During the Coronavirus Disease 2019 Lockdown

Author

Zucca, M., Isella, V., Lorenzo, R. D., Marra, Camillo, Cagnin, A., Cupidi, C., Bonanni, L., Lagana, V., Rubino, E., Vanacore, N., Agosta, F., Caffarra, P., Sambati, R., Quaranta, Davide, Guglielmi, Valeria, Appollonio, I. M., Logroscino, G., Filippi, M., Tedeschi, G., Ferrarese, C., Rainero, I., Bruni, A. C., Gallo, E., Grassini, A., Marcinno, A., Roveta, F., Martino, P. D., Frangipane, F., Puccio, G., Colao, R., Mirabelli, M., Martellacci, N., Lino, F., Mozzetta, S., Busse, C., Camporese, G., Sacco, S., Lechiara, M. C., Carrarini, Claudia, Russo, M., Casalena, A., Sucapane, P., Tiraboschi, P., Caroppo, P., Redaelli, V., Fede, G. D., Coppa, D., Peluso, L., Insarda, P., Bartolo, M. D., Esposito, S., Iavarone, A., Orsini, A. V. M., Salvatore, E., Criscuolo, C., Sambati, L., Santoro, R., Gragnaniello, D., Pedriali, I., Ludovico, L., Chiari, A., Fabbo, A., Bevilacqua, P., Galli, C., Magarelli, S., Perini, M., Spalletta, G., Banaj, N., Porcari, D. E., Caruso, G., Cipollini, V., Casini, A. R., Ursini, F., Bruno, G., Rozzini, R., Brambilla, M., Magnani, G., Caso, F., Spinelli, E. G., Ramusino, M. C., Perini, G., Luzzi, S., Cacchio, G., Ciccola, A., Cionfrini, L., Giuli, C., Fabi, K., Guidi, M., Paci, C., Castellano, A., Petrucci, R., Accogli, M., Carapelle, E., Calabrese, G., Trevisi, G. N., Coluccia, B., Giuliano, A. V., Caggiula, M., Impagnatiello, V., Beretta, F., Milia, A., Pilia, G., Mascia, M. G., Putzu, V., Piccoli, T., Cuffaro, L., Monastero, R., Battaglia, A., Blandino, V., Lupo, F., Cumbo, E., Luca, A., Caravaglios, G., Vezzosi, A., Bessi, V., Tognoni, G., Calsolaro, V., Mossello, E., Amici, S., Trequattrini, A., Pezzuto, S., Mecocci, P., Fichera, G., Pradelli, S., Formilan, M., Coin, A., Togni, L. D., Sala, F., Nicolosi, V., Gallucci, M., Mazzarolo, A. P., Bergamelli, C., Zucca M., Isella V., Lorenzo R.D., Marra C., Cagnin A., Cupidi C., Bonanni L., Lagana V., Rubino E., Vanacore N., Agosta F., Caffarra P., Sambati R., Quaranta D., Guglielmi V., Appollonio I.M., Logroscino G., Filippi M., Tedeschi G., Ferrarese C., Rainero I., Bruni A.C., Gallo E., Grassini A., Marcinno A., Roveta F., Martino P.D., Frangipane F., Puccio G., Colao R., Mirabelli M., Martellacci N., Lino F., Mozzetta S., Busse C., Camporese G., Sacco S., Lechiara M.C., Carrarini C., Russo M., Casalena A., Sucapane P., Tiraboschi P., Caroppo P., Redaelli V., Fede G.D., Coppa D., Peluso L., Insarda P., Bartolo M.D., Esposito S., Iavarone A., Orsini A.V.M., Salvatore E., Criscuolo C., Sambati L., Santoro R., Gragnaniello D., Pedriali I., Ludovico L., Chiari A., Fabbo A., Bevilacqua P., Galli C., Magarelli S., Perini M., Spalletta G., Banaj N., Porcari D.E., Caruso G., Cipollini V., Casini A.R., Ursini F., Bruno G., Rozzini R., Brambilla M., Magnani G., Caso F., Spinelli E.G., Ramusino M.C., Perini G., Luzzi S., Cacchio G., Ciccola A., Cionfrini L., Giuli C., Fabi K., Guidi M., Paci C., Castellano A., Petrucci R., Accogli M., Carapelle E., Calabrese G., Trevisi G.N., Coluccia B., Giuliano A.V., Caggiula M., Impagnatiello V., Beretta F., Milia A., Pilia G., Mascia M.G., Putzu V., Piccoli T., Cuffaro L., Monastero R., Battaglia A., Blandino V., Lupo F., Cumbo E., Luca A., Caravaglios G., Vezzosi A., Bessi V., Tognoni G., Calsolaro V., Mossello E., Amici S., Trequattrini A., Pezzuto S., Mecocci P., Fichera G., Pradelli S., Formilan M., Coin A., Togni L.D., Sala F., Nicolosi V., Gallucci M., Mazzarolo A.P., Bergamelli C., Zucca, M, Isella, V, Di Lorenzo, R, Marra, C, Cagnin, A, Cupidi, C, Bonanni, L, Laganà, V, Rubino, E, Vanacore, N, Agosta, F, Caffarra, P, Sambati, R, Quaranta, D, Guglielmi, V, Appollonio, I, Logroscino, G, Filippi, M, Tedeschi, G, Ferrarese, C, Rainero, I, Bruni, A, Gallo, E, Grassini, A, Marcinnò, A, Roveta, F, De Martino, P, Frangipane, F, Puccio, G, Colao, R, Mirabelli, M, Martellacci, N, Lino, F, Mozzetta, S, Bussè, C, Camporese, G, Sacco, S, Lechiara, M, Carrarini, C, Russo, M, Casalena, A, Sucapane, P, Tiraboschi, P, Caroppo, P, Redaelli, V, Di Fede, G, Coppa, D, Peluso, L, Insarda, P, De Bartolo, M, Esposito, S, Iavarone, A, Orsini, A, Salvatore, E, Criscuolo, C, Sambati, L, Santoro, R, Gragnaniello, D, Pedriali, I, Ludovico, L, Chiari, A, Fabbo, A, Bevilacqua, P, Galli, C, Magarelli, S, Perini, M, Spalletta, G, Banaj, N, Porcari, D, Caruso, G, Cipollini, V, Casini, A, Ursini, F, Bruno, G, Rozzini, R, Brambilla, M, Magnani, G, Caso, F, Spinelli, E, Cotta Ramusino, M, Perini, G, Luzzi, S, Cacchiò, G, Ciccola, A, Cionfrini, L, Giuli, C, Fabi, K, Guidi, M, Paci, C, Castellano, A, Petrucci, R, Accogli, M, Carapelle, E, Calabrese, G, Trevisi, G, Coluccia, B, Vasquez Giuliano, A, Caggiula, M, Impagnatiello, V, Beretta, F, Milia, A, Pilia, G, Mascia, M, Putzu, V, Piccoli, T, Cuffaro, L, Monastero, R, Battaglia, A, Blandino, V, Lupo, F, Cumbo, E, Luca, A, Caravaglios, G, Vezzosi, A, Bessi, V, Tognoni, G, Calsolaro, V, Mossello, E, Amici, S, Trequattrini, A, Pezzuto, S, Mecocci, P, Fichera, G, Pradelli, S, Formilan, M, Coin, A, De Togni, L, Sala, F, Nicolosi, V, Gallucci, M, Mazzarolo, A, Bergamelli, C, Zucca, Milena, Isella, Valeria, Lorenzo, Raffaele Di, Marra, Camillo, Cagnin, Annachiara, Cupidi, Chiara, Bonanni, Laura, Laganà, Valentina, Rubino, Elisa, Vanacore, Nicola, Agosta, Federica, Caffarra, Paolo, Sambati, Renato, Quaranta, Davide, Guglielmi, Valeria, Appollonio, Ildebrando M., Logroscino, Giancarlo, Filippi, Massimo, Tedeschi, Gioacchino, Ferrarese, Carlo, Rainero, Innocenzo, and Bruni, Amalia C.

Subjects
Aging, medicine.medical_specialty, Cognitive Neuroscience, Population, Psychological intervention, Protective factor, Neurosciences. Biological psychiatry. Neuropsychiatry, burden, 03 medical and health sciences, stress, 0302 clinical medicine, stre, medicine, Dementia, caregiver, COVID-19, dementia, Psychiatry, education, Original Research, MED/26 - NEUROLOGIA, education.field_of_study, 030214 geriatrics, burden, caregiver, COVID-19, dementia, stress, Family caregivers, business.industry, medicine.disease, Mental health, Settore MED/26 - NEUROLOGIA, Anxiety, Caregiver stress, M-PSI/08 - PSICOLOGIA CLINICA, medicine.symptom, business, 030217 neurology & neurosurgery, Neuroscience, RC321-571
Abstract

Background: Family caregivers of patients with dementia are at high risk of stress and burden, and quarantine due to the coronavirus disease 2019 (COVID-19) pandemic may have increased the risk of psychological disturbances in this population. The current study was carried out during the national lockdown declared in March 2020 by the Italian government as a containment measure of the first wave of the coronavirus pandemic and is the first nationwide survey on the impact of COVID-19 lockdown on the mental health of dementia informal caregivers.Methods: Eighty-seven dementia centers evenly distributed on the Italian territory enrolled 4,710 caregiver–patient pairs. Caregivers underwent a telephone interview assessing classical symptoms of caregiver stress and concern for the consequences of COVID-19 infection on patient’s health. We calculated prevalence of symptoms and regressed them on various potential stress risk factors: caregivers’ sociodemographic characteristics and lifestyle, patients’ clinical features, and lockdown-related elements, like discontinuity in medical care.Results: Approximately 90% of caregivers reported at least one symptom of stress, and nearly 30% reported four or more symptoms. The most prevalent symptoms were concern for consequences of COVID-19 on patient’s health (75%) and anxiety (46%). The main risk factors for stress were identified as a conflicting relationship with the patient and discontinuity in assistance, but caregiver’s female sex, younger age, lower education, and cohabitation with the patient also had an impact. Availability of help from institutions or private individuals showed a protective effect against sense of abandonment but a detrimental effect on concern about the risk for the patient to contract COVID-19. The only protective factor was mild dementia severity, which was associated with a lower risk of feeling isolated and abandoned; type of dementia, on the other hand, did not affect stress risk.Conclusion: Our results demonstrate the large prevalence of stress in family caregivers of patients with dementia during the COVID-19 pandemic and have identified both caregivers and situations at a higher risk of stress, which should be taken into account in the planning of interventions in support of quarantined families and patients.

Published
2021

41. Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

Author

Johnson, JO, Chia, R, Miller, DE, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, AE, Topp, SD, Gibbs, JR, Cookson, MR, Sabir, MS, Dalgard, CL, Troakes, C, Jones, AR, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, IP, Dobson-Stone, C, Kwok, JB, Bonkowski, ES, Palvadeau, R, Tienari, PJ, Morrison, KE, Shaw, PJ, Al-Chalabi, A, Brown, RH, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, IJ, Perlman, SJ, Glass, I, Scott, AI, Shaw, CE, Basak, AN, Landers, JE, Chiò, A, Crawford, TO, Smith, BN, Traynor, BJ, Fallini, C, Gkazi, AS, Scotter, EL, Kenna, KP, Keagle, P, Tiloca, C, Vance, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, ten Asbroek, ALMA, McKenna-Yasek, D, McLaughlin, RL, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D’Alfonso, S, Mazzini, L, Comi, GP, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, van Rheenen, W, Rademakers, R, van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, KL, Nicholson, GA, Leblond-Manry, C, Rouleau, GA, Hardiman, O, Veldink, JH, van den Berg, LH, Pall, H, Turner, MR, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, JD, Ratti, A, Adeleye, A, Soltis, AR, Alba, C, Viollet, C, Bacikova, D, Hupalo, DN, Sukumar, G, Pollard, HB, Wilkerson, MD, Martinez, EM, Ahmed, S, Arepalli, S, Baloh, RH, Bowser, R, Brady, CB, Brice, A, Broach, J, Campbell, RH, Camu, W, Cooper-Knock, J, Ding, J, Drepper, C, Drory, VE, Dunckley, TL, Eicher, JD, England, BK, Faghri, F, Feldman, E, Floeter, MK, Fratta, P, Geiger, JT, Gerhard, G, Gibson, SB, Hardy, J, Harms, MB, Heiman-Patterson, TD, Hernandez, DG, Jansson, L, Kirby, J, Kowall, NW, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, MacGowan, DJL, Maragakis, NJ, Mouzat, K, Murphy, NA, Myllykangas, L, Nalls, MA, Orrell, RW, Ostrow, LW, Pamphlett, R, Pickering-Brown, S, Pioro, EP, Pletnikova, O, Pliner, HA, Pulst, SM, Ravits, JM, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, JD, Scholz, SW, Sendtner, M, Sidle, KC, Simmons, Z, Singleton, AB, Smith, N, Stone, DJ, Troncoso, JC, Valori, M, Van Damme, P, Van Deerlin, VM, Van Den Bosch, L, Zinman, L, Angelocola, SM, Ausiello, FP, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Canale, F, Canosa, A, Cantisani, TA, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Colletti, T, Conforti, FL, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D’Errico, E, DeMarco, G, Dubbioso, R, Ferrarese, C, Ferraro, PM, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Liguori, R, Logroscino, G, Logullo, FO, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, MG, Martinelli, I, Messina, S, Moglia, C, Mosca, L, Murru, MR, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M, Zucchi, E, Johnson J.O., Chia R., Miller D.E., Li R., Kumaran R., Abramzon Y., Alahmady N., Renton A.E., Topp S.D., Gibbs J.R., Cookson M.R., Sabir M.S., Dalgard C.L., Troakes C., Jones A.R., Shatunov A., Iacoangeli A., Al Khleifat A., Ticozzi N., Silani V., Gellera C., Blair I.P., Dobson-Stone C., Kwok J.B., Bonkowski E.S., Palvadeau R., Tienari P.J., Morrison K.E., Shaw P.J., Al-Chalabi A., Brown R.H., Calvo A., Mora G., Al-Saif H., Gotkine M., Leigh F., Chang I.J., Perlman S.J., Glass I., Scott A.I., Shaw C.E., Basak A.N., Landers J.E., Chio A., Crawford T.O., Smith B.N., Traynor B.J., Fallini C., Gkazi A.S., Scotter E.L., Kenna K.P., Keagle P., Tiloca C., Vance C., Colombrita C., King A., Pensato V., Castellotti B., Baas F., Ten Asbroek A.L.M.A., McKenna-Yasek D., McLaughlin R.L., Polak M., Asress S., Esteban-Perez J., Stevic Z., D'Alfonso S., Mazzini L., Comi G.P., Del Bo R., Ceroni M., Gagliardi S., Querin G., Bertolin C., Van Rheenen W., Rademakers R., Van Blitterswijk M., Lauria G., Duga S., Corti S., Cereda C., Corrado L., Soraru G., Williams K.L., Nicholson G.A., Leblond-Manry C., Rouleau G.A., Hardiman O., Veldink J.H., Van Den Berg L.H., Pall H., Turner M.R., Talbot K., Taroni F., Garcia-Redondo A., Wu Z., Glass J.D., Ratti A., Adeleye A., Soltis A.R., Alba C., Viollet C., Bacikova D., Hupalo D.N., Sukumar G., Pollard H.B., Wilkerson M.D., Martinez E.M., Ahmed S., Arepalli S., Baloh R.H., Bowser R., Brady C.B., Brice A., Broach J., Campbell R.H., Camu W., Cooper-Knock J., Ding J., Drepper C., Drory V.E., Dunckley T.L., Eicher J.D., England B.K., Faghri F., Feldman E., Floeter M.K., Fratta P., Geiger J.T., Gerhard G., Gibson S.B., Hardy J., Harms M.B., Heiman-Patterson T.D., Hernandez D.G., Jansson L., Kirby J., Kowall N.W., Laaksovirta H., Landeck N., Landi F., Le Ber I., Lumbroso S., Macgowan D.J.L., Maragakis N.J., Mouzat K., Murphy N.A., Myllykangas L., Nalls M.A., Orrell R.W., Ostrow L.W., Pamphlett R., Pickering-Brown S., Pioro E.P., Pletnikova O., Pliner H.A., Pulst S.M., Ravits J.M., Rivera A., Robberecht W., Rogaeva E., Rollinson S., Rothstein J.D., Scholz S.W., Sendtner M., Sidle K.C., Simmons Z., Singleton A.B., Smith N., Stone D.J., Troncoso J.C., Valori M., Van Damme P., Van Deerlin V.M., Van Den Bosch L., Zinman L., Angelocola S.M., Ausiello F.P., Barberis M., Bartolomei I., Battistini S., Bersano E., Bisogni G., Borghero G., Brunetti M., Cabona C., Canale F., Canosa A., Cantisani T.A., Capasso M., Caponnetto C., Cardinali P., Carrera P., Casale F., Colletti T., Conforti F.L., Conte A., Conti E., Corbo M., Cuccu S., Dalla Bella E., D'Errico E., Demarco G., Dubbioso R., Ferrarese C., Ferraro P.M., Filippi M., Fini N., Floris G., Fuda G., Gallone S., Gianferrari G., Giannini F., Grassano M., Greco L., Iazzolino B., Introna A., La Bella V., Lattante S., Liguori R., Logroscino G., Logullo F.O., Lunetta C., Mandich P., Mandrioli J., Manera U., Manganelli F., Marangi G., Marinou K., Marrosu M.G., Martinelli I., Messina S., Moglia C., Mosca L., Murru M.R., Origone P., Passaniti C., Petrelli C., Petrucci A., Pozzi S., Pugliatti M., Quattrini A., Ricci C., Riolo G., Riva N., Russo M., Sabatelli M., Salamone P., Salivetto M., Salvi F., Santarelli M., Sbaiz L., Sideri R., Simone I., Simonini C., Spataro R., Tanel R., Tedeschi G., Ticca A., Torriello A., Tranquilli S., Tremolizzo L., Trojsi F., Vasta R., Vacchiano V., Vita G., Volanti P., Zollino M., Zucchi E., Johnson, J. O., Chia, R., Miller, D. E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A. E., Topp, S. D., Gibbs, J. R., Cookson, M. R., Sabir, M. S., Dalgard, C. L., Troakes, C., Jones, A. R., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Ticozzi, N., Silani, V., Gellera, C., Blair, I. P., Dobson-Stone, C., Kwok, J. B., Bonkowski, E. S., Palvadeau, R., Tienari, P. J., Morrison, K. E., Shaw, P. J., Al-Chalabi, A., Brown, R. H., Calvo, A., Mora, G., Al-Saif, H., Gotkine, M., Leigh, F., Chang, I. J., Perlman, S. J., Glass, I., Scott, A. I., Shaw, C. E., Basak, A. N., Landers, J. E., Chio, A., Crawford, T. O., Smith, B. N., Traynor, B. J., Fallini, C., Gkazi, A. S., Scotter, E. L., Kenna, K. P., Keagle, P., Tiloca, C., Vance, C., Colombrita, C., King, A., Pensato, V., Castellotti, B., Baas, F., Ten Asbroek, A. L. M. A., McKenna-Yasek, D., Mclaughlin, R. L., Polak, M., Asress, S., Esteban-Perez, J., Stevic, Z., D'Alfonso, S., Mazzini, L., Comi, G. P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., Van Rheenen, W., Rademakers, R., Van Blitterswijk, M., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Soraru, G., Williams, K. L., Nicholson, G. A., Leblond-Manry, C., Rouleau, G. A., Hardiman, O., Veldink, J. H., Van Den Berg, L. H., Pall, H., Turner, M. R., Talbot, K., Taroni, F., Garcia-Redondo, A., Wu, Z., Glass, J. D., Ratti, A., Adeleye, A., Soltis, A. R., Alba, C., Viollet, C., Bacikova, D., Hupalo, D. N., Sukumar, G., Pollard, H. B., Wilkerson, M. D., Martinez, E. M., Ahmed, S., Arepalli, S., Baloh, R. H., Bowser, R., Brady, C. B., Brice, A., Broach, J., Campbell, R. H., Camu, W., Cooper-Knock, J., Ding, J., Drepper, C., Drory, V. E., Dunckley, T. L., Eicher, J. D., England, B. K., Faghri, F., Feldman, E., Floeter, M. K., Fratta, P., Geiger, J. T., Gerhard, G., Gibson, S. B., Hardy, J., Harms, M. B., Heiman-Patterson, T. D., Hernandez, D. G., Jansson, L., Kirby, J., Kowall, N. W., Laaksovirta, H., Landeck, N., Landi, F., Le Ber, I., Lumbroso, S., Macgowan, D. J. L., Maragakis, N. J., Mouzat, K., Murphy, N. A., Myllykangas, L., Nalls, M. A., Orrell, R. W., Ostrow, L. W., Pamphlett, R., Pickering-Brown, S., Pioro, E. P., Pletnikova, O., Pliner, H. A., Pulst, S. M., Ravits, J. M., Rivera, A., Robberecht, W., Rogaeva, E., Rollinson, S., Rothstein, J. D., Scholz, S. W., Sendtner, M., Sidle, K. C., Simmons, Z., Singleton, A. B., Smith, N., Stone, D. J., Troncoso, J. C., Valori, M., Van Damme, P., Van Deerlin, V. M., Van Den Bosch, L., Zinman, L., Angelocola, S. M., Ausiello, F. P., Barberis, M., Bartolomei, I., Battistini, S., Bersano, E., Bisogni, G., Borghero, G., Brunetti, M., Cabona, C., Canale, F., Canosa, A., Cantisani, T. A., Capasso, M., Caponnetto, C., Cardinali, P., Carrera, P., Casale, F., Colletti, T., Conforti, F. L., Conte, A., Conti, E., Corbo, M., Cuccu, S., Dalla Bella, E., D'Errico, E., Demarco, G., Dubbioso, R., Ferrarese, C., Ferraro, P. M., Filippi, M., Fini, N., Floris, G., Fuda, G., Gallone, S., Gianferrari, G., Giannini, F., Grassano, M., Greco, L., Iazzolino, B., Introna, A., La Bella, V., Lattante, S., Liguori, R., Logroscino, G., Logullo, F. O., Lunetta, C., Mandich, P., Mandrioli, J., Manera, U., Manganelli, F., Marangi, G., Marinou, K., Marrosu, M. G., Martinelli, I., Messina, S., Moglia, C., Mosca, L., Murru, M. R., Origone, P., Passaniti, C., Petrelli, C., Petrucci, A., Pozzi, S., Pugliatti, M., Quattrini, A., Ricci, C., Riolo, G., Riva, N., Russo, M., Sabatelli, M., Salamone, P., Salivetto, M., Salvi, F., Santarelli, M., Sbaiz, L., Sideri, R., Simone, I., Simonini, C., Spataro, R., Tanel, R., Tedeschi, G., Ticca, A., Torriello, A., Tranquilli, S., Tremolizzo, L., Trojsi, F., Vasta, R., Vacchiano, V., Vita, G., Volanti, P., Zollino, M., Zucchi, E., Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), Palvadeau, Robin, Johnson, Janel O., Chia, Ruth, Miller, Danny E., Li, Rachel, Kumaran, Ravindran, Abramzon, Yevgeniya, Alahmady, Nada, Renton, Alan E., Topp, Simon D., Gibbs, J. Raphael, Cookson, Mark R., Sabir, Marya S., Dalgard, Clifton L., Troakes, Claire, Jones, Ashley R., Shatunov, Aleksey, Lacoangeli, Alfredo, Al Khleifat, Ahmad, Ticozzi, Nicola, Silani, Vincenzo, Gellera, Cinzia, Blair, Ian P., Dobson-Stone, Carol, Kwok, John B., Bonkowski, Emily S., Tienari, Pentti J., Morrison, Karen E., Shaw, Pamela J., Al-Chalabi, Ammar, Jr, Robert H. Brown, Calvo, Andrea, Mora, Gabriele, Al-Saif, Hind, Gotkine, Marc, Leigh, Fawn, Chang, Irene J., Perlman, Seth J., Glass, Ian, Scott, Anna, I., Landers, John E., Chio, Adriano, Crawford, Thomas O., Smith, Bradley N., Traynor, Bryan J., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine, Johnson, J, Chia, R, Miller, D, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, A, Topp, S, Gibbs, J, Cookson, M, Sabir, M, Dalgard, C, Troakes, C, Jones, A, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, I, Dobson-Stone, C, Kwok, J, Bonkowski, E, Palvadeau, R, Tienari, P, Morrison, K, Shaw, P, Al-Chalabi, A, Brown, R, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, I, Perlman, S, Glass, I, Scott, A, Shaw, C, Basak, A, Landers, J, Chiò, A, Crawford, T, Smith, B, Traynor, B, Fallini, C, Gkazi, A, Scotter, E, Kenna, K, Keagle, P, Tiloca, C, Vance, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, Ten Asbroek, A, McKenna-Yasek, D, Mclaughlin, R, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D'Alfonso, S, Mazzini, L, Comi, G, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, van Rheenen, W, Rademakers, R, van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, K, Nicholson, G, Leblond-Manry, C, Rouleau, G, Hardiman, O, Veldink, J, van den Berg, L, Pall, H, Turner, M, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, J, Ratti, A, Adeleye, A, Soltis, A, Alba, C, Viollet, C, Bacikova, D, Hupalo, D, Sukumar, G, Pollard, H, Wilkerson, M, Martinez, E, Ahmed, S, Arepalli, S, Baloh, R, Bowser, R, Brady, C, Brice, A, Broach, J, Campbell, R, Camu, W, Cooper-Knock, J, Ding, J, Drepper, C, Drory, V, Dunckley, T, Eicher, J, England, B, Faghri, F, Feldman, E, Floeter, M, Fratta, P, Geiger, J, Gerhard, G, Gibson, S, Hardy, J, Harms, M, Heiman-Patterson, T, Hernandez, D, Jansson, L, Kirby, J, Kowall, N, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, Macgowan, D, Maragakis, N, Mouzat, K, Murphy, N, Myllykangas, L, Nalls, M, Orrell, R, Ostrow, L, Pamphlett, R, Pickering-Brown, S, Pioro, E, Pletnikova, O, Pliner, H, Pulst, S, Ravits, J, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, J, Scholz, S, Sendtner, M, Sidle, K, Simmons, Z, Singleton, A, Smith, N, Stone, D, Troncoso, J, Valori, M, Van Damme, P, Van Deerlin, V, Van Den Bosch, L, Zinman, L, Angelocola, S, Ausiello, F, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Canale, F, Canosa, A, Cantisani, T, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Colletti, T, Conforti, F, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D'Errico, E, Demarco, G, Dubbioso, R, Ferrarese, C, Ferraro, P, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Liguori, R, Logroscino, G, Logullo, F, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, M, Martinelli, I, Messina, S, Moglia, C, Mosca, L, Murru, M, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M, Zucchi, E, HUS Neurocenter, Department of Neurosciences, Clinicum, Neurologian yksikkö, TRIMM - Translational Immunology Research Program, Pentti Tienari / Principal Investigator, Human Genetics, ARD - Amsterdam Reproduction and Development, ANS - Complex Trait Genetics, Johnson, Janel O, Miller, Danny E, Renton, Alan E, Topp, Simon D, Gibbs, J Raphael, Cookson, Mark R, Sabir, Marya S, Dalgard, Clifton L, Jones, Ashley R, Iacoangeli, Alfredo, Blair, Ian P, Kwok, John B, Bonkowski, Emily S, Tienari, Pentti J, Morrison, Karen E, Shaw, Pamela J, Brown, Robert H, Chang, Irene J, Perlman, Seth J, Scott, Anna I, Shaw, Christopher E, Basak, A Nazli, Landers, John E, Chiò, Adriano, Crawford, Thomas O, Smith, Bradley N, Traynor, Bryan J, Fallini, Claudia, Gkazi, Athina Soragia, Scotter, Emma L, Kenna, Kevin P, Keagle, Pamela, Tiloca, Cinzia, Vance, Caroline, Colombrita, Claudia, King, Andrew, Pensato, Viviana, Castellotti, Barbara, Baas, Frank, Ten Asbroek, Anneloor L M A, McKenna-Yasek, Diane, Mclaughlin, Russell L, Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesú, Stevic, Zorica, D'Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P, Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Rademakers, Rosa, van Blitterswijk, Marka, Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Williams, Kelly L, Nicholson, Garth A, Leblond-Manry, Claire, Rouleau, Guy A, Hardiman, Orla, Veldink, Jan H, van den Berg, Leonard H, Pall, Hardev, Turner, Martin R, Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Glass, Jonathan D, Ratti, Antonia, Adeleye, Adelani, Soltis, Anthony R, Alba, Camille, Viollet, Coralie, Bacikova, Dagmar, Hupalo, Daniel N, Sukumar, Gauthaman, Pollard, Harvey B, Wilkerson, Matthew D, Martinez, Elisa McGrath, Ahmed, Sarah, Arepalli, Sampath, Baloh, Robert H, Bowser, Robert, Brady, Christopher B, Brice, Alexi, Broach, Jame, Campbell, Roy H, Camu, William, Cooper-Knock, John, Ding, Jinhui, Drepper, Carsten, Drory, Vivian E, Dunckley, Travis L, Eicher, John D, England, Bryce K, Faghri, Faraz, Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Geiger, Joshua T, Gerhard, Glenn, Gibson, Summer B, Hardy, John, Harms, Matthew B, Heiman-Patterson, Terry D, Hernandez, Dena G, Jansson, Lilja, Kirby, Janine, Kowall, Neil W, Laaksovirta, Hannu, Landeck, Natalie, Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, Macgowan, Daniel J L, Maragakis, Nicholas J, Mouzat, Kevin, Murphy, Natalie A, Myllykangas, Liisa, Nalls, Mike A, Orrell, Richard W, Ostrow, Lyle W, Pamphlett, Roger, Pickering-Brown, Stuart, Pioro, Erik P, Pletnikova, Olga, Pliner, Hannah A, Pulst, Stefan M, Ravits, John M, Rivera, Alberto, Robberecht, Wim, Rogaeva, Ekaterina, Rollinson, Sara, Rothstein, Jeffrey D, Scholz, Sonja W, Sendtner, Michael, Sidle, Katie C, Simmons, Zachary, Singleton, Andrew B, Smith, Nathan, Stone, David J, Troncoso, Juan C, Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M, Van Den Bosch, Ludo, Zinman, Lorne, Angelocola, Stefania M, Ausiello, Francesco P, Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bersano, Enrica, Bisogni, Giulia, Borghero, Giuseppe, Brunetti, Maura, Cabona, Corrado, Canale, Fabrizio, Canosa, Antonio, Cantisani, Teresa A, Capasso, Margherita, Caponnetto, Claudia, Cardinali, Patrizio, Carrera, Paola, Casale, Federico, Colletti, Tiziana, Conforti, Francesca L, Conte, Amelia, Conti, Elisa, Corbo, Massimo, Cuccu, Stefania, Dalla Bella, Eleonora, D'Errico, Eustachio, Demarco, Giovanni, Dubbioso, Raffaele, Ferrarese, Carlo, Ferraro, Pilar M, Filippi, Massimo, Fini, Nicola, Floris, Gianluca, Fuda, Giuseppe, Gallone, Salvatore, Gianferrari, Giulia, Giannini, Fabio, Grassano, Maurizio, Greco, Lucia, Iazzolino, Barbara, Introna, Alessandro, La Bella, Vincenzo, Lattante, Serena, Liguori, Rocco, Logroscino, Giancarlo, Logullo, Francesco O, Lunetta, Christian, Mandich, Paola, Mandrioli, Jessica, Manera, Umberto, Manganelli, Fiore, Marangi, Giuseppe, Marinou, Kalliopi, Marrosu, Maria Giovanna, Martinelli, Ilaria, Messina, Sonia, Moglia, Cristina, Mosca, Lorena, Murru, Maria R, Origone, Paola, Passaniti, Carla, Petrelli, Cristina, Petrucci, Antonio, Pozzi, Susanna, Pugliatti, Maura, Quattrini, Angelo, Ricci, Claudia, Riolo, Giulia, Riva, Nilo, Russo, Massimo, Sabatelli, Mario, Salamone, Paolina, Salivetto, Marco, Salvi, Fabrizio, Santarelli, Marialuisa, Sbaiz, Luca, Sideri, Riccardo, Simone, Isabella, Simonini, Cecilia, Spataro, Rossella, Tanel, Raffaella, Tedeschi, Gioacchino, Ticca, Anna, Torriello, Antonella, Tranquilli, Stefania, Tremolizzo, Lucio, Trojsi, Francesca, Vasta, Rosario, Vacchiano, Veria, Vita, Giuseppe, Volanti, Paolo, Zollino, Marcella, and Zucchi, Elisabetta

Subjects
Hereditary sensory neuropathy, L-serine, Mutations, Deoxysphingolipids, Accumulation, Enzyme complex, Juvenile amyotrophic lateral sclerosis, Serine C-Palmitoyltransferase, Whole Exome Sequencing, 0302 clinical medicine, Medicine, Family history, Amyotrophic lateral sclerosis, Child, Index case, Exome sequencing, Original Investigation, 0303 health sciences, Neurosciences and neurology, 3. Good health, Child, Preschool, Failure to thrive, Female, medicine.symptom, Life Sciences & Biomedicine, L-SERINE, Comments, Human, Adult, medicine.medical_specialty, Adolescent, Amyotrophic Lateral Sclerosis, Genetic Predisposition to Disease, Humans, Mutation, Young Adult, Clinical Neurology, NO, 03 medical and health sciences, DEOXYSPHINGOLIPIDS, Internal medicine, Exome Sequencing, Online First, Juvenile, Preschool, 030304 developmental biology, ACCUMULATION, Science & Technology, SPTLC1, business.industry, MUTATIONS, Research, 3112 Neurosciences, medicine.disease, HEREDITARY SENSORY NEUROPATHY, juvenile, 3111 Biomedicine, Neurology (clinical), Neurosciences & Neurology, ALS, genetic, business, 030217 neurology & neurosurgery, Amyotrophic Lateral Sclerosi
Abstract

Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder., This genetic association study identifies genetic variants associated with juvenile amyotrophic lateral sclerosis., Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation. Objective To identify the genetic variants associated with juvenile ALS. Design, Setting, and Participants In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism. Main Outcomes and Measures De novo variants present only in the index case and not in unaffected family members. Results Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway. Conclusions and Relevance These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.

Published
2021

42. An Italian multicenter retrospective-prospective observational study on neurological manifestations of COVID-19 (NEUROCOVID)

Author

Ferrarese, C, Silani, V, Priori, A, Galimberti, S, Agostoni, E, Monaco, S, Padovani, A, Tedeschi, G, Ferrarese C., Silani V., Priori A., Galimberti S., Agostoni E., Monaco S., Padovani A., Tedeschi G., Ferrarese, C, Silani, V, Priori, A, Galimberti, S, Agostoni, E, Monaco, S, Padovani, A, Tedeschi, G, Ferrarese C., Silani V., Priori A., Galimberti S., Agostoni E., Monaco S., Padovani A., and Tedeschi G.

Abstract

Neurological manifestations of COVID-19 have been described in both single case reports and retrospective scanty case series. They may be linked to the potential neurotropism of the SARS-COV-2 virus, as previously demonstrated for other coronaviruses. We report here the description of a multicenter retrospective-prospective observational study promoted by the Italian Society of Neurology (SIN), involving the Italian Neurological Departments, who will consecutively recruit patients with neurological symptoms and/or signs, occurred at the onset or as a complication of COVID-19. Hospitalized patients will be recruited either in neurological wards or in COVID wards; in the latter cases, they will be referred from other specialists to participant neurologists. Outpatients with clinical signs of COVID and neurological manifestations will be also referred to participating neurologists from primary care physicians. A comprehensive data collection, in the form of electronic case report form (eCRF), will register all possible neurological manifestations involving central nervous systems, peripheral nerves, and muscles, together with clinical, laboratory (including cerebrospinal fluid, if available), imaging, neurological, neurophysiological, and neuropsychological data. A follow-up at hospital discharge (in hospitalized patients), and for all patients after 3 and 6 months, is also planned. We believe that this study may help to intercept the full spectrum of neurological manifestations of COVID-19 and, given the large diffusion at national level, can provide a large cohort of patients available for future more focused investigations. Similar observational studies might also be proposed at international level to better define the neurological involvement of COVID-19.

Published
2020

43. Dementia care and COVID-19 pandemic: a necessary digital revolution

Author

Cuffaro, L, Di Lorenzo, F, Bonavita, S, Tedeschi, G, Leocani, L, Lavorgna, L, Cuffaro L., Di Lorenzo F., Bonavita S., Tedeschi G., Leocani L., Lavorgna L., Cuffaro, L, Di Lorenzo, F, Bonavita, S, Tedeschi, G, Leocani, L, Lavorgna, L, Cuffaro L., Di Lorenzo F., Bonavita S., Tedeschi G., Leocani L., and Lavorgna L.

Abstract

Due to the COVID-19 pandemic, most memory clinics have had to suspend their activities. On the other hand, international dementia experts have recommended to provide urgently worldwide support for people living with dementia. This situation urges to play out new strategies to guarantee adequate care. Telemedicine and digital technology (DT) devices, such as smartphones, can be very helpful in remote monitoring and care. Technological devices such as videoconference or smartphone apps might be used for follow-up visits and support to patients and caregivers and to acquire digital markers of clinical progression. Hopefully, this dramatic situation would facilitate the process of progressive familiarization of neurologists with telemedicine and DT approach.

Published
2020

44. Behavioral and psychological effects of coronavirus disease-19 quarantine in patients with dementia

Author

Cagnin, A, Di Lorenzo, R, Marra, C, Bonanni, L, Cupidi, C, Lagana, V, Rubino, E, Vacca, A, Provero, P, Isella, V, Vanacore, N, Agosta, F, Appollonio, I, Caffarra, P, Pettenuzzo, I, Sambati, R, Quaranta, D, Guglielmi, V, Logroscino, G, Filippi, M, Tedeschi, G, Ferrarese, C, Rainero, I, Bruni, A, Cagnin A., Di Lorenzo R., Marra C., Bonanni L., Cupidi C., Lagana V., Rubino E., Vacca A., Provero P., Isella V., Vanacore N., Agosta F., Appollonio I., Caffarra P., Pettenuzzo I., Sambati R., Quaranta D., Guglielmi V., Logroscino G., Filippi M., Tedeschi G., Ferrarese C., Rainero I., Bruni A. C., Cagnin, A, Di Lorenzo, R, Marra, C, Bonanni, L, Cupidi, C, Lagana, V, Rubino, E, Vacca, A, Provero, P, Isella, V, Vanacore, N, Agosta, F, Appollonio, I, Caffarra, P, Pettenuzzo, I, Sambati, R, Quaranta, D, Guglielmi, V, Logroscino, G, Filippi, M, Tedeschi, G, Ferrarese, C, Rainero, I, Bruni, A, Cagnin A., Di Lorenzo R., Marra C., Bonanni L., Cupidi C., Lagana V., Rubino E., Vacca A., Provero P., Isella V., Vanacore N., Agosta F., Appollonio I., Caffarra P., Pettenuzzo I., Sambati R., Quaranta D., Guglielmi V., Logroscino G., Filippi M., Tedeschi G., Ferrarese C., Rainero I., and Bruni A. C.

Abstract

Background: In March 2020, the World Health Organization declared a global pandemic due to the novel coronavirus SARS-CoV-2 and several governments planned a national quarantine in order to control the virus spread. Acute psychological effects of quarantine in frail elderly subjects with special needs, such as patients with dementia, have been poorly investigated. The aim of this study was to assess modifications of neuropsychiatric symptoms during quarantine in patients with dementia and their caregivers. Methods: This is a sub-study of a multicenter nation-wide survey. A structured telephone interview was delivered to family caregivers of patients with diagnosis of Alzheimer disease (AD), dementia with Lewy bodies (DLB), frontotemporal dementia (FTD), and vascular dementia (VD), followed regularly at 87 Italian memory clinics. Variations in behavioral and psychological symptoms (BPSD) were collected after 1 month since quarantine declaration and associations with disease type, severity, gender, and caregiver’s stress burden were analyzed. Results: A total of 4,913 caregivers participated in the survey. Increased BPSD was reported in 59.6% of patients as worsening of preexisting symptoms (51.9%) or as new onset (26%), and requested drug modifications in 27.6% of these cases. Irritability, apathy, agitation, and anxiety were the most frequently reported worsening symptoms and sleep disorder and irritability the most frequent new symptoms. Profile of BPSD varied according to dementia type, disease severity, and patients’ gender. Anxiety and depression were associated with a diagnosis of AD (OR 1.35, CI: 1.12–1.62), mild to moderate disease severity and female gender. DLB was significantly associated with a higher risk of worsening hallucinations (OR 5.29, CI 3.66–7.64) and sleep disorder (OR 1.69, CI 1.25–2.29), FTD with wandering (OR 1.62, CI 1.12–2.35), and change of appetite (OR 1.52, CI 1.03–2.25). Stress-related symptoms were experienced by two-thirds of caregiv

Published
2020

45. Effectiveness of Vigna unguiculata seed extracts in preventing colorectal cancer

Author

Panzeri, D, Guzzetti, L, Sacco, G, Tedeschi, G, Nonnis, S, Airoldi, C, Labra, M, Fusi, P, Forcella, M, Regonesi, M, Panzeri D., Guzzetti L., Sacco G., Tedeschi G., Nonnis S., Airoldi C., Labra M., Fusi P., Forcella M., Regonesi M. E., Panzeri, D, Guzzetti, L, Sacco, G, Tedeschi, G, Nonnis, S, Airoldi, C, Labra, M, Fusi, P, Forcella, M, Regonesi, M, Panzeri D., Guzzetti L., Sacco G., Tedeschi G., Nonnis S., Airoldi C., Labra M., Fusi P., Forcella M., and Regonesi M. E.

Abstract

Colorectal cancer (CRC) is one of the most common types of cancer, especially in Western countries, and its incidence rate is increasing every year. In this study, for the first time Vigna unguiculata L. Walp. (cowpea) water boiled seed extracts were found to reduce the viability of different colorectal cancer (CRC) cell lines, such as E705, DiFi and SW480 and the proliferation of Caco-2 line too, without affecting CCD841 healthy cell line. Furthermore, the extracts showed the ability to reduce the level of Epidermal Growth Factor Receptor (EGFR) phosphorylation in E705, DiFi and SW480 cell lines and to lower the EC50 of a CRC common drug, cetuximab, on E705 and DiFi lines from 161.7 ng mL-1 to 0.06 ng mL-1 and from 49.5 ng mL-1 to 0.2 ng mL-1 respectively. The extract was characterized in its protein and metabolite profiles by tandem mass spectrometry and 1H-NMR analyses. A Bowman-Birk protease inhibitor was identified within the protein fraction and was supposed to be the main active component. These findings confirm the importance of a legume-based diet to prevent the outbreak of many CRC and to reduce the amount of drug administered during a therapeutic cycle.

Published
2020

46. HEADWORK Questionnaire: Why Do We Need a New Tool to Assess Work-Related Disability in Patients With Migraine?

Author

D'Amico D., Grazzi L., Grignani E., Leonardi M., Sansone E., Raggi A., Covelli V., Guastafierro E., Scaratti C., Usai S., Bartolini M., Viticchi G., Cevoli S., Pierangeli G., Tedeschi G., Russo A., Barbanti P., Aurilia C., Lovati C., Giani L., Frediani F., Di Fiore P., Bono F., Rapisarda L., Pascarella A., D'Amico, D., Grazzi, L., Grignani, E., Leonardi, M., Sansone, E., Raggi, A., Covelli, V., Guastafierro, E., Scaratti, C., Usai, S., Bartolini, M., Viticchi, G., Cevoli, S., Pierangeli, G., Tedeschi, G., Russo, A., Barbanti, P., Aurilia, C., Lovati, C., Giani, L., Frediani, F., Di Fiore, P., Bono, F., Rapisarda, L., Pascarella, A., D'Amico D., Grazzi L., Grignani E., Leonardi M., Sansone E., Raggi A., Covelli V., Guastafierro E., Scaratti C., Usai S., Bartolini M., Viticchi G., Cevoli S., Pierangeli G., Tedeschi G., Russo A., Barbanti P., Aurilia C., Lovati C., Giani L., Frediani F., Di Fiore P., Bono F., Rapisarda L., and Pascarella A.

Subjects
Adult, Gerontology, medicine.medical_specialty, disability evaluation, Migraine Disorders, Severity of Illness Index, Work related, 03 medical and health sciences, Indirect costs, 0302 clinical medicine, Chronic Migraine, work, Surveys and Questionnaires, Epidemiology, Humans, Medicine, Disabled Persons, In patient, 030212 general & internal medicine, Sensitivity to change, HEADWORK, business.industry, medicine.disease, Clinical trial, Neurology, Migraine, employment, episodic migraine, Neurology (clinical), chronic migraine, business, 030217 neurology & neurosurgery
Abstract

Objective: This article reviews current headache disability measures and clinical need, as well as presenting the rationale for a new measure addressing work-related disability in migraine patients and the steps devoted to this aim. Background: Episodic and chronic migraine (EM and CM) constitute an enormous economic burden to societies, and the vast majority of this burden is attributable to indirect costs, ie those associated with productivity loss. A measure of work-related disability is therefore needed to quantify the impact of EM and CM on patients' ability to carry out work tasks. Methods: We briefly present the advantages and disadvantages of the disability measures that have been most commonly used for this purpose and the rationale for developing a new measure. Results: The entire process of development of HEADWORK, a questionnaire designed to assess work-related disability, is presented together with short-term sensitivity to change. Conclusions: Current headache disability measures need improvement. HEADWORK is a valid, reliable, and sensitive questionnaire to address the amount and severity of work-related difficulties and of the factors contributing to such difficulties. HEADWORK is suitable for daily clinical practice, epidemiological research and for clinical trials, and potentially to define work-related disability weights for the calculation of migraine indirect costs.

Published
2020

47. Conclusioni

Author

Nocentini, U., Tedeschi, G., Caltagirone, C., Nocentini, Ugo, editor, Caltagirone, Carlo, editor, and Tedeschi, Gioacchino, editor

Published
2010
Full Text
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48. The effect of air pollution on COVID-19 severity in a sample of patients with multiple sclerosis

Author

Bergamaschi, R., Ponzano, M., Schiavetti, I., Carmisciano, L., Cordioli, C., Filippi, M., Radaelli, M., Immovilli, P., Capobianco, M., De Rossi, N., Brichetto, G., Cocco, E., Scandellari, C., Cavalla, P., Pesci, I., Zito, A., Confalonieri, P., Marfia, G. A., Perini, P., Inglese, M., Trojano, M., Brescia Morra, V., Pisoni, E., Tedeschi, G., Comi, G., Battaglia, M. A., Patti, F., Salvetti, M., Sormani, M. P., Abbadessa, G., Aguglia, U., Allegorico, L., Allegri, R. B. M., Alteno, A., Amato, M. P., Annovazzi, P., Antozzi, C., Appendino, L., Arena, S., Baione, V., Balgera, R., Barcella, V., Baroncini, D., Barrilà, C., Bellacosa, A., Bellucci, G., Bergamaschi, V., Bezzini, D., Biolzi, B., Bisecco, A., Bonavita, S., Borriello, G., Bosa, C., Bosco, A., Bovis, F., Bozzali, M., Brambilla, L., Brescia, M. V., Buccafusca, M., Bucciantini, E., Bucello, S., Buscarinu, M. C., Cabboi, M. P., Calabrese, M., Calabria, F., Caleri, F., Camilli, F., Caniatti, L. M., Cantello, R., Capra, R., Capuano, R., Carta, P., Celani, M. G., Cellerino, M., Cerqua, R., Chisari, C., Clerici, R., Clerico, M., Cola, G., Conte, A., Conti, M. Z., Cordano, C., Cordera, S., Corea, F., Correale, C., Cottone, S., Crescenzo, F., Curti, E., D'Ambrosio, A., D'Amico, E., Danni, M. C., D'Arma, A., Dattola, V., de Biase, S., De Luca, G., De Mercanti, S. F., De Mitri, P., De Stefano, N., Della, C. M., Mirabella, Massimiliano, MuSC-19 study, Group., Mirabella M. (ORCID:0000-0002-7783-114X), Bergamaschi, R., Ponzano, M., Schiavetti, I., Carmisciano, L., Cordioli, C., Filippi, M., Radaelli, M., Immovilli, P., Capobianco, M., De Rossi, N., Brichetto, G., Cocco, E., Scandellari, C., Cavalla, P., Pesci, I., Zito, A., Confalonieri, P., Marfia, G. A., Perini, P., Inglese, M., Trojano, M., Brescia Morra, V., Pisoni, E., Tedeschi, G., Comi, G., Battaglia, M. A., Patti, F., Salvetti, M., Sormani, M. P., Abbadessa, G., Aguglia, U., Allegorico, L., Allegri, R. B. M., Alteno, A., Amato, M. P., Annovazzi, P., Antozzi, C., Appendino, L., Arena, S., Baione, V., Balgera, R., Barcella, V., Baroncini, D., Barrilà, C., Bellacosa, A., Bellucci, G., Bergamaschi, V., Bezzini, D., Biolzi, B., Bisecco, A., Bonavita, S., Borriello, G., Bosa, C., Bosco, A., Bovis, F., Bozzali, M., Brambilla, L., Brescia, M. V., Buccafusca, M., Bucciantini, E., Bucello, S., Buscarinu, M. C., Cabboi, M. P., Calabrese, M., Calabria, F., Caleri, F., Camilli, F., Caniatti, L. M., Cantello, R., Capra, R., Capuano, R., Carta, P., Celani, M. G., Cellerino, M., Cerqua, R., Chisari, C., Clerici, R., Clerico, M., Cola, G., Conte, A., Conti, M. Z., Cordano, C., Cordera, S., Corea, F., Correale, C., Cottone, S., Crescenzo, F., Curti, E., D'Ambrosio, A., D'Amico, E., Danni, M. C., D'Arma, A., Dattola, V., de Biase, S., De Luca, G., De Mercanti, S. F., De Mitri, P., De Stefano, N., Della, C. M., Mirabella, Massimiliano, MuSC-19 study, Group., and Mirabella M. (ORCID:0000-0002-7783-114X)

Abstract

Background and purpose Some studies have shown that air pollution, often assessed by thin particulate matter with diameter below 2.5 mu g/m(3) (PM2.5), may contribute to severe COVID-19 courses, as well as play a role in the onset and evolution of multiple sclerosis (MS). However, the impact of air pollution on COVID-19 has never been explored specifically amongst patients with MS (PwMS). This retrospective observational study aims to explore associations between PM2.5 and COVID-19 severity amongst PwMS. Methods Data were retrieved from an Italian web-based platform (MuSC-19) which includes PwMS with COVID-19. PM2.5 2016-2018 average concentrations were provided by the Copernicus Atmospheric Monitoring Service. Italian patients inserted in the platform from 15 January 2020 to 9 April 2021 with a COVID-19 positive test were included. Ordered logistic regression models were used to study associations between PM2.5 and COVID-19 severity. Results In all, 1087 patients, of whom 13% required hospitalization and 2% were admitted to an intensive care unit or died, were included. Based on the multivariate analysis, higher concentrations of PM2.5 increased the risk of worse COVID-19 course (odds ratio 1.90; p = 0.009). Conclusions Even if several other factors explain the unfavourable course of COVID-19 in PwMS, the role of air pollutants must be considered and further investigated.

Published
2022

49. Signs and symptoms of COVID-19 in patients with multiple sclerosis

Author

Schiavetti, I., Carmisciano, L., Ponzano, M., Cordioli, C., Cocco, E., Marfia, G. A., Inglese, M., Filippi, M., Radaelli, M., Bergamaschi, R., Immovilli, P., Capobianco, M., De Rossi, N., Brichetto, G., Scandellari, C., Cavalla, P., Pesci, I., Confalonieri, P., Perini, P., Trojano, M., Lanzillo, R., Tedeschi, G., Comi, G., Battaglia, M. A., Patti, F., Salvetti, M., Sormani, M. P., Abbadessa, G., Aguglia, U., Allegorico, L., Rossi Allegri, B. M., Alteno, A., Amato, M. P., Annovazzi, P., Antozzi, C., Appendino, L., Arena, S., Baione, V., Balgera, R., Barcella, V., Baroncini, D., Barrila, C., Bellacosa, A., Bellucci, G., Bergamaschi, V., Bezzini, D., Biolzi, B., Bisecco, A., Bonavita, S., Borriello, G., Bosa, C., Bosco, A., Bovis, F., Bozzali, M., Brambilla, L., Brescia Morra, V., Buccafusca, M., Bucciantini, E., Bucello, S., Buscarinu, M. C., Cabboi, M. P., Calabrese, M., Calabria, F., Caleri, F., Camilli, F., Caniatti, L. M., Cantello, R., Capra, R., Capuano, R., Carta, P., Celani, M. G., Cellerino, M., Cerqua, R., Chisari, C., Clerici, R., Clerico, M., Cola, G., Conte, A., Conti, M. Z., Cordano, C., Cordera, S., Corea, F., Correale, C., Cottone, S., Crescenzo, F., Curti, E., D'Ambrosio, A., D'Amico, E., Danni, M. C., D'Arma, A., Dattola, V., de Biase, S., De Luca, G., De Mercanti, S. F., De Mitri, P., De Stefano, N., Della Cava, F. M., Cava, M. D., Di Lemme, S., di Napoli, M., Di Sapio, A., Docimo, R., Dutto, A., Evangelista, L., Fanara, S., Fantozzi, R., Ferraro, D., Ferro, M. T., Fioretti, C., Fratta, M., Frau, J., Fronza, M., Furlan, R., Gajofatto, A., Gallo, A., Gallo, P., Gasperini, C., Ghazaryan, A., Giometto, B., Gobbin, F., Govone, F., Granella, F., Grange, E., Grasso, M. G., Grimaldi, L. M. E., Guareschi, A., Guaschino, C., Guerrieri, S., Guidetti, D., Juergenson, I. B., Iaffaldano, P., Ianniello, A., Iasevoli, L., Imperiale, D., Infante, M. T., Iodice, R., Iovino, A., Konrad, G., Landi, D., Lapucci, C., Lavorgna, L., L'Episcopo, M. R., Leva, S., Liberatore, G., Lo Re, M., Longoni, M., Lopiano, L., Lorefice, L., Lucchini, Matteo, Lus, G., Maimone, D., Malentacchi, M., Mallucci, G., Malucchi, S., Mancinelli, C. R., Mancinelli, L., Manganotti, P., Maniscalco, G. T., Mantero, V., Marangoni, S., Marastoni, D., Marinelli, F., Marti, A., Boneschi Martinelli, F., Masserano, Z. F., Matta, F., Mendozzi, L., Meucci, G., Miante, S., Miele, G., Milano, E., Mirabella, Massimiliano, Missione, R., Moccia, M., Moiola, L., Montepietra, S., Montibragadin, M., Montini, F., Motta, R., Nardone, R., Gabri Nicoletti, C., Nobile-Orazio, E., Nozzolillo, A., Onofrj, M., Orlandi, R., Palmieri, A., Paolicelli, D., Pasquali, L., Pasto, L., Pedrazzoli, E., Petracca, M., Petrone, A., Piantadosi, C., Pietroboni, A. M., Pinardi, F., Portaccio, E., Pozzato, M., Pozzilli, C., Prosperini, L., Protti, A., Ragonese, P., Rasia, S., Realmuto, S., Repice, A., Rigoni, E., Rilla, M. T., Rinaldi, F., Romano, C. M., Ronzoni, M., Rovaris, M., Ruscica, F., Sabattini, L., Salemi, G., Saraceno, L., Sartori, A., Sbragia, E., Scarano, G. I., Scarano, V., Sessa, M., Sgarito, C., Sibilia, G., Siciliano, G., Signori, A., Signoriello, E., Sinisi, L., Sireci, F., Sola, P., Solaro, C., Sotgiu, S., Sparaco, M., Stromillo, M. L., Strumia, S., Susani, E. L., Tabiadon, G., Teatini, F., Tomassini, V., Tonietti, S., Torri, V., Tortorella, C., Toscano, S., Totaro, R., Trotta, M., Turano, G., Ulivelli, M., Valentino, M., Vaula, G., Vecchio, D., Vercellino, M., Verrengia, E. P., Vianello, M., Virgilio, E., Vitetta, F., Vollaro, S., Zaffaroni, M., Zampolini, M., Zarbo, I. R., Zito, A., Zuliani, L., Lucchini M. (ORCID:0000-0002-0447-2297), Mirabella M. (ORCID:0000-0002-7783-114X), Schiavetti, I., Carmisciano, L., Ponzano, M., Cordioli, C., Cocco, E., Marfia, G. A., Inglese, M., Filippi, M., Radaelli, M., Bergamaschi, R., Immovilli, P., Capobianco, M., De Rossi, N., Brichetto, G., Scandellari, C., Cavalla, P., Pesci, I., Confalonieri, P., Perini, P., Trojano, M., Lanzillo, R., Tedeschi, G., Comi, G., Battaglia, M. A., Patti, F., Salvetti, M., Sormani, M. P., Abbadessa, G., Aguglia, U., Allegorico, L., Rossi Allegri, B. M., Alteno, A., Amato, M. P., Annovazzi, P., Antozzi, C., Appendino, L., Arena, S., Baione, V., Balgera, R., Barcella, V., Baroncini, D., Barrila, C., Bellacosa, A., Bellucci, G., Bergamaschi, V., Bezzini, D., Biolzi, B., Bisecco, A., Bonavita, S., Borriello, G., Bosa, C., Bosco, A., Bovis, F., Bozzali, M., Brambilla, L., Brescia Morra, V., Buccafusca, M., Bucciantini, E., Bucello, S., Buscarinu, M. C., Cabboi, M. P., Calabrese, M., Calabria, F., Caleri, F., Camilli, F., Caniatti, L. M., Cantello, R., Capra, R., Capuano, R., Carta, P., Celani, M. G., Cellerino, M., Cerqua, R., Chisari, C., Clerici, R., Clerico, M., Cola, G., Conte, A., Conti, M. Z., Cordano, C., Cordera, S., Corea, F., Correale, C., Cottone, S., Crescenzo, F., Curti, E., D'Ambrosio, A., D'Amico, E., Danni, M. C., D'Arma, A., Dattola, V., de Biase, S., De Luca, G., De Mercanti, S. F., De Mitri, P., De Stefano, N., Della Cava, F. M., Cava, M. D., Di Lemme, S., di Napoli, M., Di Sapio, A., Docimo, R., Dutto, A., Evangelista, L., Fanara, S., Fantozzi, R., Ferraro, D., Ferro, M. T., Fioretti, C., Fratta, M., Frau, J., Fronza, M., Furlan, R., Gajofatto, A., Gallo, A., Gallo, P., Gasperini, C., Ghazaryan, A., Giometto, B., Gobbin, F., Govone, F., Granella, F., Grange, E., Grasso, M. G., Grimaldi, L. M. E., Guareschi, A., Guaschino, C., Guerrieri, S., Guidetti, D., Juergenson, I. B., Iaffaldano, P., Ianniello, A., Iasevoli, L., Imperiale, D., Infante, M. T., Iodice, R., Iovino, A., Konrad, G., Landi, D., Lapucci, C., Lavorgna, L., L'Episcopo, M. R., Leva, S., Liberatore, G., Lo Re, M., Longoni, M., Lopiano, L., Lorefice, L., Lucchini, Matteo, Lus, G., Maimone, D., Malentacchi, M., Mallucci, G., Malucchi, S., Mancinelli, C. R., Mancinelli, L., Manganotti, P., Maniscalco, G. T., Mantero, V., Marangoni, S., Marastoni, D., Marinelli, F., Marti, A., Boneschi Martinelli, F., Masserano, Z. F., Matta, F., Mendozzi, L., Meucci, G., Miante, S., Miele, G., Milano, E., Mirabella, Massimiliano, Missione, R., Moccia, M., Moiola, L., Montepietra, S., Montibragadin, M., Montini, F., Motta, R., Nardone, R., Gabri Nicoletti, C., Nobile-Orazio, E., Nozzolillo, A., Onofrj, M., Orlandi, R., Palmieri, A., Paolicelli, D., Pasquali, L., Pasto, L., Pedrazzoli, E., Petracca, M., Petrone, A., Piantadosi, C., Pietroboni, A. M., Pinardi, F., Portaccio, E., Pozzato, M., Pozzilli, C., Prosperini, L., Protti, A., Ragonese, P., Rasia, S., Realmuto, S., Repice, A., Rigoni, E., Rilla, M. T., Rinaldi, F., Romano, C. M., Ronzoni, M., Rovaris, M., Ruscica, F., Sabattini, L., Salemi, G., Saraceno, L., Sartori, A., Sbragia, E., Scarano, G. I., Scarano, V., Sessa, M., Sgarito, C., Sibilia, G., Siciliano, G., Signori, A., Signoriello, E., Sinisi, L., Sireci, F., Sola, P., Solaro, C., Sotgiu, S., Sparaco, M., Stromillo, M. L., Strumia, S., Susani, E. L., Tabiadon, G., Teatini, F., Tomassini, V., Tonietti, S., Torri, V., Tortorella, C., Toscano, S., Totaro, R., Trotta, M., Turano, G., Ulivelli, M., Valentino, M., Vaula, G., Vecchio, D., Vercellino, M., Verrengia, E. P., Vianello, M., Virgilio, E., Vitetta, F., Vollaro, S., Zaffaroni, M., Zampolini, M., Zarbo, I. R., Zito, A., Zuliani, L., Lucchini M. (ORCID:0000-0002-0447-2297), and Mirabella M. (ORCID:0000-0002-7783-114X)

Abstract

Background and purpose Clinical outcomes of multiple sclerosis (MS) patients affected by coronavirus disease 2019 (COVID-19) have been thoroughly investigated, but a further analysis on main signs and symptoms and their risk factors still needs attention. The objective of this study was to group together and describe based on similarity the most common signs and symptoms of COVID-19 in MS patients and identify all factors associated with their manifestation. Method Logistic and linear regression models were run to recognize factors associated with each pooled group of symptoms and their total number. Results From March 2020 to November 2021, data were collected from 1354 MS patients with confirmed infection of COVID-19. Ageusia and anosmia was less frequent in older people (odds ratio [OR] 0.98; p = 0.005) and more in smoker patients (OR 1.39; p = 0.049). Smoke was also associated with an incremental number of symptoms (OR 1.24; p = 0.031), substance abuse (drugs or alcohol), conjunctivitis and rash (OR 5.20; p = 0.042) and the presence of at least one comorbidity with shortness of breath, tachycardia or chest pain (OR 1.24; p = 0.008). Some disease-modifying therapies were associated with greater frequencies of certain COVID-19 symptoms (association between anti-CD20 therapies and increment in the number of concomitant symptoms: OR 1.29; p = 0.05). Differences in frequencies between the three waves were found for flu-like symptoms (G1, p = 0.024), joint or muscle pain (G2, p = 0.013) and ageusia and anosmia (G5, p < 0.001). All cases should be referred to variants up to Delta. Conclusion Several factors along with the choice of specific therapeutic approaches might have a different impact on the occurrence of some COVID-19 symptoms.

Published
2022

50. Insulin and serine metabolism as sex-specific hallmarks of Alzheimer's disease in the human hippocampus

Author

Maffioli, E, Murtas, G, Rabattoni, V, Badone, B, Tripodi, F, Iannuzzi, F, Licastro, D, Nonnis, S, Rinaldi, A, Motta, Z, Sacchi, S, Canu, N, Tedeschi, G, Coccetti, P, Pollegioni, L, Maffioli, Elisa, Murtas, Giulia, Rabattoni, Valentina, Badone, Beatrice, Tripodi, Farida, Iannuzzi, Filomena, Licastro, Danilo, Nonnis, Simona, Rinaldi, Anna Maria, Motta, Zoraide, Sacchi, Silvia, Canu, Nadia, Tedeschi, Gabriella, Coccetti, Paola, Pollegioni, Loredano, Maffioli, E, Murtas, G, Rabattoni, V, Badone, B, Tripodi, F, Iannuzzi, F, Licastro, D, Nonnis, S, Rinaldi, A, Motta, Z, Sacchi, S, Canu, N, Tedeschi, G, Coccetti, P, Pollegioni, L, Maffioli, Elisa, Murtas, Giulia, Rabattoni, Valentina, Badone, Beatrice, Tripodi, Farida, Iannuzzi, Filomena, Licastro, Danilo, Nonnis, Simona, Rinaldi, Anna Maria, Motta, Zoraide, Sacchi, Silvia, Canu, Nadia, Tedeschi, Gabriella, Coccetti, Paola, and Pollegioni, Loredano

Abstract

Healthy aging is an ambitious aspiration for humans, but neurodegenerative disorders, such as Alzheimer's disease (AD), strongly affect quality of life. Using an integrated omics approach, we investigate alterations in the molecular composition of postmortem hippocampus samples of healthy persons and individuals with AD. Profound differences are apparent between control and AD male and female cohorts in terms of up- and downregulated metabolic pathways. A decrease in the insulin response is evident in AD when comparing the female with the male group. The serine metabolism (linked to the glycolytic pathway and generating the N-methyl-D-aspartate [NMDA] receptor coagonist D-serine) is also significantly modulated: the D-Ser/total serine ratio represents a way to counteract age-related cognitive decline in healthy men and during AD onset in women. These results show how AD changes and, in certain respects, almost reverses sex-specific proteomic and metabolomic profiles, highlighting how different pathophysiological mechanisms are active in men and women.

Published
2022

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