34 results on '"M. Bandettini di Poggio"'
Search Results
2. Corrigendum to 'Whole body cholesterol metabolism is impaired in Huntington's disease' [Neurosci. Lett. 494 (2011) 245–249]
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Caterina Mariotti, Valerio Leoni, F Squitieri, Anna Rita Bentivoglio, D. Monza, M. Bandettini di Poggio, Marta Valenza, S. Di Donato, Elena Salvatore, Lorenzo Nanetti, Elena Cattaneo, and S. Piacentini
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medicine.medical_specialty ,Huntington's disease ,business.industry ,General Neuroscience ,medicine ,Medical genetics ,Cholesterol metabolism ,Whole body ,medicine.disease ,Psychiatry ,business - Abstract
Laboratory of Clinical Pathology and Medical Genetics, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, Via Celoria 11, 20133 Milano, MI, Italy Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, Milan, Italy University of Naples Federico II, Department of Neurology, Naples, Italy Neuropharmacology Unit, IRCCS Neuromed, Pozzilli, Italy University Cattolica del Sacro Cuore, Institute of Neurology, Rome, Italy University of Genoa, Department of Neuroscience, Ophtalmology and Genetics, Genua, Italy University of Florence, Department of Neurology, Florence, Italy Department of Pharmacological Sciences and Centre for Stem Cell Research, University of Milan, Italy
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- 2011
3. H03 Cerebral and extracerebral cholesterol biosynthesis is impaired in Huntington's disease patients
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G. De Michele, Elena Salvatore, Anna Rita Bentivoglio, F Soletti, F Squitieri, S. Di Donato, Giovanni Abbruzzese, Marta Valenza, M. Bandettini di Poggio, Valerio Leoni, Lorenzo Nanetti, Elena Cattaneo, Chiara Tomasello, S. Piacentini, and Caterina Mariotti
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medicine.medical_specialty ,Bile acid ,Cholesterol ,medicine.drug_class ,Lanosterol ,Synaptogenesis ,Lathosterol ,Biology ,Grey matter ,medicine.disease ,Psychiatry and Mental health ,chemistry.chemical_compound ,Endocrinology ,medicine.anatomical_structure ,chemistry ,Huntington's disease ,Internal medicine ,medicine ,lipids (amino acids, peptides, and proteins) ,Surgery ,Neurology (clinical) ,Homeostasis - Abstract
Background Cholesterol in the CNS is fundamental for membrane trafficking, signal transduction and synaptogenesis and almost all the brain cholesterol is synthetised locally. Homeostasis is maintained through a neuronal specific cholesterol 24-hydroxylase which converts cholesterol into 24-hydroxycholesterol (24OHC). The levels of 24OHC in blood thus reflect the number of active neurons and the volume of the grey matter. We previously found that plasma levels of 24OHC were progressively reduced in early Huntington9s disease (HD)1 and that cholesterol biosynthesis was significantly impaired in the brain of multiple mouse HD models, and in fibroblasts of HD patients.2 Methods We analysed by mass spectrometry plasma levels of the cholesterol precursor lathosterol and lanosterol (marker of cholesterol biosynthesis), 24OHC and bile acid precursor 27-hydroxycholesterol, in 130 HD gene positive subjects (from presymptomatic to advanced stage of disease). Results We found that plasma levels of lathosterol and lanosterol, together with 24OHC and 27OHC, were reduced in all HD patients compared with healthy controls (p Conclusion Whole body cholesterol synthesis and brain derived 24OHC were significantly decreased following the disease burden. We suggest that the significant decrease in plasma 24OHC levels we reported in early HD1 are associated with two concurrent mechanisms, that is, the progressive loss in grey matter linked to the neurodegenerative process and the impairment in brain cholesterol biosynthesis, in agreement with our previous findings across multiple rodent models of HD2.
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- 2010
4. Endovascular treatment of cerebral sinus thrombosis due to vaccine-induced immune thrombotic thrombocytopenia.
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Weller J, Krzywicka K, van de Munckhof A, Dorn F, Althaus K, Bode FJ, Bandettini di Poggio M, Buck B, Kleinig T, Cordonnier C, Dizonno V, Duan J, Elkady A, Chew BLA, Garcia-Esperon C, Field TS, Legault C, Morin Martin M, Michalski D, Pelz J, Schoenenberger S, Nagel S, Petruzzellis M, Raposo N, Skjelland M, Zimatore DS, Aaron S, Sanchez van Kammen M, Aguiar de Sousa D, Lindgren E, Jood K, Scutelnic A, Heldner MR, Poli S, Arauz A, Conforto AB, Putaala J, Tatlisumak T, Arnold M, Coutinho JM, Günther A, Zimmermann J, and Ferro JM
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- Humans, COVID-19 Vaccines adverse effects, Purpura, Thrombocytopenic, Idiopathic, Thrombocytopenia chemically induced, Vaccines, Sinus Thrombosis, Intracranial etiology
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Introduction: There is little data on the role of endovascular treatment (EVT) of cerebral venous sinus thrombosis (CVST) due to vaccine-induced immune thrombotic thrombocytopenia (VITT). Here, we describe clinical characteristics and outcomes of CVST-VITT patients who were treated with EVT., Patients and Methods: We report data from an international registry of patients who developed CVST within 28 days of SARS-CoV-2 vaccination, reported between 29 March 2021 and 6 March 2023. VITT was defined according to the Pavord criteria., Results: EVT was performed in 18/136 (13%) patients with CVST-VITT (92% aspiration and/or stent retrieval, 8% local thrombolysis). Most common indications were extensive thrombosis and clinical or radiological deterioration. Compared to non-EVT patients, those receiving EVT had a higher median thrombus load (4.5 vs 3). Following EVT, local blood flow was improved in 83% (10/12, 95% confidence interval [CI] 54-96). One (6%) asymptomatic sinus perforation occurred. Eight (44%) patients treated with EVT also underwent decompressive surgery. Mortality was 50% (9/18, 95% CI 29-71) and 88% (8/9, 95% CI 25-66) of surviving EVT patients achieved functional independence with a modified Rankin Scale score of 0-2 at follow-up. In multivariable analysis, EVT was not associated with increased mortality (adjusted odds ratio, 0.66, 95% CI 0.16-2.58)., Discussion and Conclusion: We describe the largest cohort of CVST-VITT patients receiving EVT. Half of the patients receiving EVT died during hospital admission, but most survivors achieved functional independence., Competing Interests: Declaration of conflicting interestThe author(s) declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: AA serves as an advisory board member for Bayer and Bristol Myers Squibb and consulting fees for Boheringer Ingelheim. ABC received consulting fees from Boehringer Ingelheim. SM reports grants from Bayer, Pfizer, Boehringer Ingelheim and Daiichi Sankyo paid to her institution, and personal fees from Bayer, BMS/Pfizer, Boehringer Ingelheim, Abbvie, Portola/Alexion and Daiichi Sankyo paid to her institution. AG received speaker’s honoraria from Boehringer Ingelheim, Daichii Sankyo, Pfizer, Occlutech, Merz, and Ipsen. CGE received funding to attend a conference from Boehringer Ingelheim and Bayer and speaker honoraria from the AAN. AS has received a grant from Swiss Heart Foundation. CC received speaker honoraria from Boehringer Ingelheim, personal fees for advisory board participation from AstraZeneca and Biogen, and personal fees from Biogen and Bristol Myers Squibb. CGE received travel funding from Boehringer Ingelheim and Bayer and speaker honoraria from the AAN. DAS reports travel support from Boehringer Ingelheim, DSMB participation for the SECRET trial, advisory board participation for AstraZeneca and membership on the ESO Executive Committee. EL received grants from the Swedish State, Swedish Neurologic Society, Elsa and Gustav Lindh’s Foundation, P-O Ahl’s Foundation and Rune and Ulla Amlöv’s Foundation. FD is a consultant/proctor for Cerenovus/Johnson&Johnson, Balt, Cerus Endovascular and Phenox and received speaker’s honoraria from Acandis, Stryker, Cerenovus/Johnson&Johnson, Asahi and research support from Cerenovus/Johnson&Johnson. JMC received grants paid to his institution from Boehringer Ingelheim and Bayer for DSMB participation by Bayer. JMF reports fees and DSMB or Advisory Board participation for Boehringer Ingelheim and consulting fees from Bayer. JPa received personal fees from Boehringer Ingelheim, Bayer, Herantis Pharma and Abbott and stock ownership in Vital Signum. MA reports compensation from Amgen, AstraZeneca, Bayer, Bristol Myers Squibb, Covidien, Daiichi Sankyo, Novartis, Sanofi, Pfizer, Medtronic and research grants from the Swiss National Science Foundation and the Swiss Heart Foundation. MP received personal fees for advisory board participation from Alexion. MRH reports grants from the Swiss Heart Foundation, the Bangerter Foundation, Swiss National Science Foundation, and SITEM Research Funds, and Advisory Board participation for Amgen. NR received research grants from Fulbright, Harvard University and Philippe Foundation. RL reports fees paid to his institution by Boehringer Ingelheim, Genentech, Ischemaview, Medtronic, and Medpass. SN has received consulting fees from Brainomix and lecture fees from Boehringer Ingelheim and BMS-Pfizer. SP received research support from BMS/Pfizer, Boehringer-Ingelheim, Daiichi Sankyo, European Union, German Federal Joint Committee Innovation Fund, and German Federal Ministry of Education and Research, Helena Laboratories and Werfen and speakers’ honoraria/consulting fees from Alexion, AstraZeneca, Bayer, Boehringer-Ingelheim, BMS/Pfizer, Daiichi Sankyo, Portola, and Werfen. TK received personal fees from Boehringer Ingelheim. TSF received study medication from Bayer Canada and personal fees from HLS Therapeutics. TT has received personal fees from Bayer, Boehringer Ingelheim, Bristol Myers Squibb, Inventiva, and Portola Pharma. All other authors declare that there is no conflict of interest.
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- 2024
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5. Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: a ten year follow up study.
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Cabona C, Ferraro PM, Scialò C, Bandettini Di Poggio M, Novi G, Gemelli C, Vignolo M, Rao F, Capovilla M, Marogna M, Mandich P, Origone P, Schenone A, and Caponnetto C
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- Humans, Follow-Up Studies, Prospective Studies, Delayed Diagnosis, Italy epidemiology, Amyotrophic Lateral Sclerosis diagnosis, Amyotrophic Lateral Sclerosis epidemiology, Amyotrophic Lateral Sclerosis therapy
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Objective: This article presents an updated analysis of the LIGALS register, a prospective study conducted over a ten-year period (2009-2018) in Liguria, Italy, aimed at evaluating the incidence, prevalence, clinical presentation, and management of amyotrophic lateral sclerosis (ALS)., Methods: We calculated the mean annual crude incidence rate of ALS, assessed the point prevalence of ALS on January 1, 2018, and analyzed demographic factors, clinical characteristics, and clinical management strategies. Data analysis included Cox regression analysis to identify predictors of survival., Results: The mean annual crude incidence rate of ALS was 3.16/100,000 per year (CI 95%) while the point prevalence of ALS on January 1, 2018, was 9.31/100,000 population (CI 95%). Among the patients, 6.5% were familial ALS, while 93.5% were sporadic cases. Clinical management strategies, including percutaneous endoscopic gastrostomy (PEG) and noninvasive ventilation (NIV), were employed. The study observed a stable frequency of NIV initiation and PEG placement over time, with a growing trend toward earlier PEG positioning. The mean survival from symptom onset was 39 months, whereas from diagnosis, it was 26 months. Cox regression analysis identified several predictors of survival, including gender, age at onset and diagnosis, site of onset, diagnostic category, phenotype, and diagnostic delay., Conclusions: This comprehensive analysis provides valuable insights into the long-term trends in ALS epidemiology and clinical management in Liguria, Italy. It underscores the importance of continued research efforts in understanding and addressing the challenges posed by ALS, particularly in terms of early diagnosis and optimizing clinical interventions to improve patient outcomes.
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- 2024
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6. Decompressive surgery in cerebral venous sinus thrombosis due to vaccine-induced immune thrombotic thrombocytopenia.
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Krzywicka K, Aguiar de Sousa D, Cordonnier C, Bode FJ, Field TS, Michalski D, Pelz J, Skjelland M, Wiedmann M, Zimmermann J, Wittstock M, Zanotti B, Ciccone A, Bandettini di Poggio M, Borhani-Haghighi A, Chatterton S, Aujayeb A, Devroye A, Dizonno V, Geeraerts T, Giammello F, Günther A, Ichaporia NR, Kleinig T, Kristoffersen ES, Lemmens R, De Maistre E, Mirzaasgari Z, Payen JF, Putaala J, Petruzzellis M, Raposo N, Sadeghi-Hokmabadi E, Schoenenberger S, Umaiorubahan M, Sylaja PN, van de Munckhof A, Sánchez van Kammen M, Lindgren E, Jood K, Scutelnic A, Heldner MR, Poli S, Kruip MJHA, Arauz A, Conforto AB, Aaron S, Middeldorp S, Tatlisumak T, Arnold M, Coutinho JM, and Ferro JM
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- Humans, Coma, COVID-19 prevention & control, COVID-19 Vaccines adverse effects, Sinus Thrombosis, Intracranial chemically induced, Sinus Thrombosis, Intracranial surgery, Thrombocytopenia chemically induced, Thrombocytopenia surgery, Purpura, Thrombocytopenic, Idiopathic chemically induced, Purpura, Thrombocytopenic, Idiopathic surgery
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Background and Purpose: Cerebral venous sinus thrombosis due to vaccine-induced immune thrombotic thrombocytopenia (CVST-VITT) is an adverse drug reaction occurring after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination. CVST-VITT patients often present with large intracerebral haemorrhages and a high proportion undergoes decompressive surgery. Clinical characteristics, therapeutic management and outcomes of CVST-VITT patients who underwent decompressive surgery are described and predictors of in-hospital mortality in these patients are explored., Methods: Data from an ongoing international registry of patients who developed CVST within 28 days of SARS-CoV-2 vaccination, reported between 29 March 2021 and 10 May 2022, were used. Definite, probable and possible VITT cases, as defined by Pavord et al. (N Engl J Med 2021; 385: 1680-1689), were included., Results: Decompressive surgery was performed in 34/128 (27%) patients with CVST-VITT. In-hospital mortality was 22/34 (65%) in the surgical and 27/94 (29%) in the non-surgical group (p < 0.001). In all surgical cases, the cause of death was brain herniation. The highest mortality rates were found amongst patients with preoperative coma (17/18, 94% vs. 4/14, 29% in the non-comatose; p < 0.001) and bilaterally absent pupillary reflexes (7/7, 100% vs. 6/9, 67% with unilaterally reactive pupil, and 4/11, 36% with bilaterally reactive pupils; p = 0.023). Postoperative imaging revealed worsening of index haemorrhagic lesion in 19 (70%) patients and new haemorrhagic lesions in 16 (59%) patients. At a median follow-up of 6 months, 8/10 of surgical CVST-VITT who survived admission were functionally independent., Conclusions: Almost two-thirds of surgical CVST-VITT patients died during hospital admission. Preoperative coma and bilateral absence of pupillary responses were associated with higher mortality rates. Survivors often achieved functional independence., (© 2023 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.)
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- 2023
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7. Endovascular treatment of patients with acute ischemic stroke and tandem occlusion due to internal carotid artery dissection: A multicenter experience.
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Da Ros V, Pusceddu F, Lattanzi S, Scaggiante J, Sallustio F, Marrama F, Bandettini di Poggio M, Toscano G, Di Giuliano F, Rolla-Bigliani C, Ruggiero M, Haznedari N, Sgreccia A, Sanfilippo G, Finocchi C, Diomedi M, Tomasi SO, Palmisciano P, Umana GE, Strigari L, Griessenauer CJ, Pitocchi F, Garaci F, and Floris R
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- Humans, Male, Adult, Middle Aged, Aged, Aged, 80 and over, Female, Retrospective Studies, Treatment Outcome, Stents adverse effects, Carotid Artery, Internal surgery, Thrombectomy methods, Carotid Artery, Internal, Dissection complications, Ischemic Stroke complications, Carotid Stenosis surgery, Endovascular Procedures methods, Stroke therapy
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Background: The optimal management of patients with acute ischemic stroke (AIS) due to tandem occlusion (TO) and underlying carotid dissection (CD) remains unclear., Objective: We present our multicenter-experience of endovascular treatment (EVT) approach used and outcomes for AIS patients with CD-related TO (CD-TO)., Methods: Consecutive AIS patients underwent EVT for CD-TO at five Italian Neuro-interventional Tertiary Stroke Centers were retrospectively identified. TO from atherosclerosis and other causes of, were excluded from the final analysis. Primary outcome was successful (mTICI 2b-3) and complete reperfusion (mTICI 3); secondary outcome was patients' 3-months functional independence (mRS≤2)., Results: Among 214 AIS patients with TO, 45 presented CD-TO. Median age was 54 years (range 29-86), 82.2% were male. Age <65 years ( p < 0.0001), lower baseline NIHSS score ( p = 0.0002), and complete circle of Willis ( p = 0.0422) were associated with mRS ≤ 2 at the multivariate analysis. Comparisons between antegrade and retrograde approaches resulted in differences for baseline NIHSS scores ( p = 0.001) and number of EVT attempts per-procedure ( p = 0.001). No differences in terms of recanalization rates were observed between antegrade and retrograde EVT approaches ( p = 0.811) but higher rates of mTICI3 revascularization was observed with the retrograde compared to the antegrade approach (78.6% vs 73.3%), anyway not statistically significant. CD management technique (angioplasty vs aspiration vs emergent stenting) did not correlate with 3-months mRS≤2., Conclusion: AIS patients with CD-TO were mostly treated with the retrograde approach with lower number of attempts per-procedure but it offered similar recanalization rates compared with the antegrade approach. Emergent carotid artery stenting (CAS) proved to be safe for CD management but it does not influence 3-months patients' clinical outcomes.
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- 2023
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8. Characteristics and Outcomes of Patients With Cerebral Venous Sinus Thrombosis in SARS-CoV-2 Vaccine-Induced Immune Thrombotic Thrombocytopenia.
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Sánchez van Kammen M, Aguiar de Sousa D, Poli S, Cordonnier C, Heldner MR, van de Munckhof A, Krzywicka K, van Haaps T, Ciccone A, Middeldorp S, Levi MM, Kremer Hovinga JA, Silvis S, Hiltunen S, Mansour M, Arauz A, Barboza MA, Field TS, Tsivgoulis G, Nagel S, Lindgren E, Tatlisumak T, Jood K, Putaala J, Ferro JM, Arnold M, Coutinho JM, Sharma AR, Elkady A, Negro A, Günther A, Gutschalk A, Schönenberger S, Buture A, Murphy S, Paiva Nunes A, Tiede A, Puthuppallil Philip A, Mengel A, Medina A, Hellström Vogel Å, Tawa A, Aujayeb A, Casolla B, Buck B, Zanferrari C, Garcia-Esperon C, Vayne C, Legault C, Pfrepper C, Tracol C, Soriano C, Guisado-Alonso D, Bougon D, Zimatore DS, Michalski D, Blacquiere D, Johansson E, Cuadrado-Godia E, De Maistre E, Carrera E, Vuillier F, Bonneville F, Giammello F, Bode FJ, Zimmerman J, d'Onofrio F, Grillo F, Cotton F, Caparros F, Puy L, Maier F, Gulli G, Frisullo G, Polkinghorne G, Franchineau G, Cangür H, Katzberg H, Sibon I, Baharoglu I, Brar J, Payen JF, Burrow J, Fernandes J, Schouten J, Althaus K, Garambois K, Derex L, Humbertjean L, Lebrato Hernandez L, Kellermair L, Morin Martin M, Petruzzellis M, Cotelli M, Dubois MC, Carvalho M, Wittstock M, Miranda M, Skjelland M, Bandettini di Poggio M, Scholz MJ, Raposo N, Kahnis R, Kruyt N, Huet O, Sharma P, Candelaresi P, Reiner P, Vieira R, Acampora R, Kern R, Leker R, Coutts S, Bal S, Sharma SS, Susen S, Cox T, Geeraerts T, Gattringer T, Bartsch T, Kleinig TJ, Dizonno V, and Arslan Y
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- Ad26COVS1, Adult, Aged, BNT162 Vaccine, COVID-19 Vaccines adverse effects, ChAdOx1 nCoV-19, Cohort Studies, Female, Hospital Mortality, Humans, Male, Middle Aged, Outcome Assessment, Health Care, Sex Factors, Sinus Thrombosis, Intracranial blood, Sinus Thrombosis, Intracranial chemically induced, Syndrome, Thrombocytopenia blood, Thrombocytopenia chemically induced, Venous Thromboembolism blood, Venous Thromboembolism chemically induced, Young Adult, COVID-19 Vaccines therapeutic use, Drug-Related Side Effects and Adverse Reactions mortality, Registries, Sinus Thrombosis, Intracranial mortality, Thrombocytopenia mortality, Venous Thromboembolism mortality
- Abstract
Importance: Thrombosis with thrombocytopenia syndrome (TTS) has been reported after vaccination with the SARS-CoV-2 vaccines ChAdOx1 nCov-19 (Oxford-AstraZeneca) and Ad26.COV2.S (Janssen/Johnson & Johnson)., Objective: To describe the clinical characteristics and outcome of patients with cerebral venous sinus thrombosis (CVST) after SARS-CoV-2 vaccination with and without TTS., Design, Setting, and Participants: This cohort study used data from an international registry of consecutive patients with CVST within 28 days of SARS-CoV-2 vaccination included between March 29 and June 18, 2021, from 81 hospitals in 19 countries. For reference, data from patients with CVST between 2015 and 2018 were derived from an existing international registry. Clinical characteristics and mortality rate were described for adults with (1) CVST in the setting of SARS-CoV-2 vaccine-induced immune thrombotic thrombocytopenia, (2) CVST after SARS-CoV-2 vaccination not fulling criteria for TTS, and (3) CVST unrelated to SARS-CoV-2 vaccination., Exposures: Patients were classified as having TTS if they had new-onset thrombocytopenia without recent exposure to heparin, in accordance with the Brighton Collaboration interim criteria., Main Outcomes and Measures: Clinical characteristics and mortality rate., Results: Of 116 patients with postvaccination CVST, 78 (67.2%) had TTS, of whom 76 had been vaccinated with ChAdOx1 nCov-19; 38 (32.8%) had no indication of TTS. The control group included 207 patients with CVST before the COVID-19 pandemic. A total of 63 of 78 (81%), 30 of 38 (79%), and 145 of 207 (70.0%) patients, respectively, were female, and the mean (SD) age was 45 (14), 55 (20), and 42 (16) years, respectively. Concomitant thromboembolism occurred in 25 of 70 patients (36%) in the TTS group, 2 of 35 (6%) in the no TTS group, and 10 of 206 (4.9%) in the control group, and in-hospital mortality rates were 47% (36 of 76; 95% CI, 37-58), 5% (2 of 37; 95% CI, 1-18), and 3.9% (8 of 207; 95% CI, 2.0-7.4), respectively. The mortality rate was 61% (14 of 23) among patients in the TTS group diagnosed before the condition garnered attention in the scientific community and 42% (22 of 53) among patients diagnosed later., Conclusions and Relevance: In this cohort study of patients with CVST, a distinct clinical profile and high mortality rate was observed in patients meeting criteria for TTS after SARS-CoV-2 vaccination.
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- 2021
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9. Complications of mechanical thrombectomy for acute ischemic stroke: Incidence, risk factors, and clinical relevance in the Italian Registry of Endovascular Treatment in acute stroke.
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Salsano G, Pracucci G, Mavilio N, Saia V, Bandettini di Poggio M, Malfatto L, Sallustio F, Wlderk A, Limbucci N, Nencini P, Vallone S, Zini A, Bigliardi G, Velo M, Francalanza I, Gennari P, Tassi R, Bergui M, Cerrato P, Carità G, Azzini C, Gasparotti R, Magoni M, Isceri S, Commodaro C, Cordici F, Menozzi R, Latte L, Cosottini M, Mancuso M, Comai A, Franchini E, Alexandre A, Marca GD, Puglielli E, Casalena A, Causin F, Baracchini C, Di Maggio L, Naldi A, Grazioli A, Forlivesi S, Chiumarulo L, Petruzzellis M, Sanfilippo G, Toscano G, Cavasin N, Adriana C, Ganimede MP, Prontera MP, Andrea G, Mauri M, Auteri W, Petrone A, Cirelli C, Falcou A, Corraine S, Piras V, Ganci G, Tassinari T, Nuzzi NP, Corato M, Sacco S, Squassina G, Invernizzi P, Gallesio I, Ferrandi D, Dui G, Deiana G, Amistà P, Russo M, Pintus F, Baule A, Craparo G, Mannino M, Castellan L, Toni D, and Mangiafico S
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- Humans, Incidence, Italy epidemiology, Registries, Risk Factors, Treatment Outcome, Brain Ischemia epidemiology, Endovascular Procedures adverse effects, Ischemic Stroke, Stroke epidemiology, Stroke therapy, Thrombectomy adverse effects
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Background: There are limited data concerning procedure-related complications of endovascular thrombectomy for large vessel occlusion strokes., Aims: We evaluated the cumulative incidence, the clinical relevance in terms of increased disability and mortality, and risk factors for complications., Methods: From January 2011 to December 2017, 4799 patients were enrolled by 36 centers in the Italian Registry of Endovascular Stroke Treatment. Data on demographic and procedural characteristics, complications, and clinical outcome at three months were prospectively collected., Results: The complications cumulative incidence was 201 per 1000 patients undergoing endovascular thrombectomy. Ongoing antiplatelet therapy (p < 0.01; OR 1.82, 95% CI: 1.21-2.73) and large vessel occlusion site (carotid-T, p < 0.03; OR 3.05, 95% CI: 1.13-8.19; M2-segment-MCA, p < 0.01; OR 4.54, 95% CI: 1.66-12.44) were associated with a higher risk of subarachnoid hemorrhage/arterial perforation. Thrombectomy alone (p < 0.01; OR 0.50, 95% CI: 0.31-0.83) and younger age (p < 0.04; OR 0.98, 95% CI: 0.97-0.99) revealed a lower risk of developing dissection. M2-segment-MCA occlusion (p < 0.01; OR 0.35, 95% CI: 0.19-0.64) and hypertension (p < 0.04; OR 0.77, 95% CI: 0.6-0.98) were less related to clot embolization. Higher NIHSS at onset (p < 0.01; OR 1.04, 95% CI: 1.02-1.06), longer groin-to-reperfusion time (p < 0.01; OR 1.05, 95% CI: 1.02-1.07), diabetes (p < 0.01; OR 1.67, 95% CI: 1.25-2.23), and LVO site (carotid-T, p < 0.01; OR 1.96, 95% CI: 1.26-3.05; M2-segment-MCA, p < 0.02; OR 1.62, 95% CI: 1.08-2.42) were associated with a higher risk of developing symptomatic intracerebral hemorrhage compared to no/asymptomatic intracerebral hemorrhage. The subgroup of patients treated with thrombectomy alone presented a lower risk of symptomatic intracerebral hemorrhage (p < 0.01; OR 0.70; 95% CI: 0.55-0.90). Subarachnoid hemorrhage/arterial perforation and symptomatic intracerebral hemorrhage after endovascular thrombectomy worsen both functional independence and mortality at three-month follow-up (p < 0.01). Distal embolization is associated with neurological deterioration (p < 0.01), while arterial dissection did not affect clinical outcome at follow-up., Conclusions: Complications globally considered are not uncommon and may result in poor clinical outcome. Early recognition of risk factors might help to prevent complications and manage them appropriately in order to maximize endovascular thrombectomy benefits.
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- 2021
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10. Mechanical thrombectomy in acute ischemic stroke with tandem occlusions: impact of extracranial carotid lesion etiology on endovascular management and outcome.
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Da Ros V, Scaggiante J, Pitocchi F, Sallustio F, Lattanzi S, Umana GE, Chaurasia B, Bandettini di Poggio M, Toscano G, Rolla Bigliani C, Ruggiero M, Haznedari N, Sgreccia A, Sanfilippo G, Diomedi M, Finocchi C, and Floris R
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- Humans, Retrospective Studies, Stents, Thrombectomy, Treatment Outcome, Brain Ischemia complications, Brain Ischemia surgery, Endovascular Procedures, Ischemic Stroke, Stroke etiology, Stroke surgery
- Abstract
Objective: Different etiologies of extracranial internal carotid artery steno-occlusive lesions (ECLs) in patients with acute ischemic stroke (AIS) and tandem occlusion (TO) have been pooled together in randomized trials. However, carotid atherosclerosis (CA) and carotid dissection (CD), the two most common ECL etiologies, are distinct nosological entities. The authors aimed to determine if ECL etiology has impacts on the endovascular management and outcome of patients with TO., Methods: A multicenter, retrospective study of prospectively collected data was conducted. AIS patients were included who had TO due to internal CA or CD and ipsilateral M1 middle cerebral artery occlusion and underwent endovascular treatment (EVT). Comparative analyses including demographic data, safety, successful recanalization rates, and clinical outcome were performed according to EVT and ECL etiology., Results: In total, 214 AIS patients with TOs were included (77.6% CA related, 22.4% CD related). Patients treated with a retrograde approach were more often functionally independent at 3 months than patients treated with an antegrade approach (OR 0.6, 95% CI 0.4-0.9). Patients with CD-related TOs achieved 90-day clinical independence more often than patients with CA-related TOs (OR 1.4, 95% CI 1.1-2.0). Emergency stenting use was associated with good 3-month clinical outcome only in patients with CA-related TOs (OR 1.4, 95% CI 1.1-2.1). Symptomatic intracranial hemorrhage (sICH) occurred in 10.7% of patients, without differences associated with ECL etiology., Conclusions: ECL etiology impacts both EVT approach and clinical outcome in patients with TOs. Patients with CD-related TO achieved higher 3-month functional independence rates than patients with CA-related TOs. A retrograde approach can be desirable for both CA- and CD-related TOs, and emergency stenting is likely better justified in CA-related TOs.
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- 2021
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11. Coverage of the requirements of first and second level stroke unit in Italy.
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Bandettini di Poggio M, Toni D, Gandolfo C, Paolicelli D, Zini A, Agostoni E, Bandini F, Ragno M, Altavista MC, Bertolotto A, Siciliano G, Vecchio M, Tambasco N, Gambardella A, Manganotti P, Melis M, Onofrj M, De Michele G, Reale N, Tedeschi G, and Mancardi G
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- Humans, Italy epidemiology, Surveys and Questionnaires, Cerebrovascular Disorders, Neurology, Stroke epidemiology, Stroke therapy
- Abstract
Background and Aim: In the scientific literature, there is unanimous consensus that hospitalization in stroke unit (SU) is the most important treatment for stroke patients. In this regard, the Act number 70/2015 by the Italian government identified specific skills that contribute to a classification of SU and outlined a "hub and spoke" stroke network. The aim of our study was to check the coverage of requirements of first and second level SU in the national territory and to shed light on any deficit or misdistribution of resources., Material and Methods: In 2019, a survey on the current situation related to stroke care in Italy was carried out by the Italian Society of Neurology (SIN), The Italian Stroke Organization (ISO), and the Association for the Fight against Stroke (A.L.I.Ce)., Results: First level SU was found to be 58 against a requirement, according to the Act 70/2015, of 240. Second level SU was found to be 52 compared with an expected requirement of 60. Neurointerventionists were 280 nationally, with a requirement of 240. A misdistribution of resources within individual regions was often seen., Conclusions: The survey demonstrated a severe shortage of beds dedicated to cerebrovascular diseases, mainly because of lack of first level SU, especially in central and southern Italy. It also suggests that the current hub and spoke system is not yet fully implemented across the country and that resources should be better distributed in order to ensure uniform and fair care for all stroke patients on the whole territory.
- Published
- 2021
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12. Management of acute ischemic stroke, thrombolysis rate, and predictors of clinical outcome.
- Author
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Bandettini di Poggio M, Finocchi C, Brizzo F, Altomonte F, Bovis F, Mavilio N, Serrati C, Malfatto L, Mancardi G, and Balestrino M
- Subjects
- Acute Disease, Administration, Intravenous, Aged, Aged, 80 and over, Disease Management, Female, Fibrinolytic Agents administration & dosage, Humans, Male, Monitoring, Physiologic, Prognosis, Prospective Studies, Time-to-Treatment, Brain Ischemia diagnosis, Brain Ischemia therapy, Mechanical Thrombolysis, Stroke diagnosis, Stroke therapy, Thrombolytic Therapy adverse effects, Thrombolytic Therapy methods
- Abstract
Background and Aims: Monitoring the quality of acute ischemic stroke (AIS) management is increasingly important since patient outcome could be improved with better access to evidence-based treatments. In this scenario, the aim of our study was to identify thrombolysis rate, reasons for undertreatment, and factors associated with better outcome., Methods: From January to December 2016, individuals diagnosed with AIS at the Policlinic San Martino Hospital in Genoa, Italy, were prospectively included. Severity of stroke, site of occlusion, rate and time related in-hospital management of systemic thrombolysis, and mechanical thrombectomy were recorded. Safety and clinical outcomes were compared between different subgroups., Results: Of 459 AIS patients (57.3% females, mean age 78.1), 111 received i.v. thrombolysis (24.4%) and 50 received mechanical thrombectomy (10.9%). Apart from arrival behind the therapeutic window, which was the first limitation to thrombolysis, the main reason of undertreatment was minor stroke or stroke in rapid improvement. Baseline NIHSS ≥ 8 was associated with unfavorable clinical outcome (mRS > 2) (OR 20.1; 95% CI, 1.1-387.4, p = 0.047). Age older than 80 years (OR 5.0; 95% CI, 1.4-64.1, p = 0.01), baseline NIHSS ≥ 7 (OR 20.1; 95% CI, 1.1-387.4, p = 0.047), and symptomatic intracranial hemorrhage (OR 22.9; 95% CI, 2.0-254.2, p = 0.01) proved independently associated with mortality., Conclusions: i.v. thrombolysis and mechanical thrombectomy rate was higher than that of previous reports. Minor stroke or stroke in rapid improvement was a major reason for exclusion from thrombolysis of eligible patients. Higher NIHSS proved an independent predictor of unfavorable clinical outcome and death. Strategies to avoid in-hospital delays need to be enforced.
- Published
- 2019
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13. Trauma and amyotrophic lateral sclerosis: a european population-based case-control study from the EURALS consortium.
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Pupillo E, Poloni M, Bianchi E, Giussani G, Logroscino G, Zoccolella S, Chiò A, Calvo A, Corbo M, Lunetta C, Marin B, Mitchell D, Hardiman O, Rooney J, Stevic Z, Bandettini di Poggio M, Filosto M, Cotelli MS, Perini M, Riva N, Tremolizzo L, Vitelli E, Damiani D, and Beghi E
- Subjects
- Adult, Aged, Amyotrophic Lateral Sclerosis diagnosis, Case-Control Studies, Craniocerebral Trauma diagnosis, Ethnicity, Female, France, Humans, Ireland, Italy, Logistic Models, Male, Middle Aged, Odds Ratio, Risk Factors, Serbia, United Kingdom, Age Factors, Amyotrophic Lateral Sclerosis complications, Craniocerebral Trauma complications
- Abstract
Objectives: To assess the association between amyotrophic lateral sclerosis (ALS) and previous traumatic events, age of trauma, and site of injury., Methods: A population-based case-control study was performed in five European countries (Italy, Ireland, France, United Kingdom, Serbia). Newly diagnosed ALS patients and matched controls were interviewed to collect relevant demographic factors and exposures. Key clinical features at diagnosis were collected in ALS patients. Trauma was any accidental event causing an injury. Injuries were dated and classified according to cause, severity, type, site, and complications. All exposures were censored five years before symptoms onset. Risks were computed as odds ratios (OR) with 95% confidence intervals (CI) using univariate and multivariate conditional logistic regression models., Results: Five hundred and seventy-five ALS patients and 1150 controls were interviewed. Disabling traumatic events predominated in the cases (OR 1.54 (95% CI 1.24-1.92)) and maintained significance after adjustment, with a significant gradient. A history of 2 + head injuries was associated with an almost three-fold increased risk of ALS. The risk was almost two-fold when trauma occurred at age 35-54 years. Site of injury was uneventful., Conclusions: Traumatic events leading to functional disability or confined to the head are risk factors for ALS. Traumatic events experienced at age 35-54 years carry the highest risk.
- Published
- 2018
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14. Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1.
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Capponi S, Geuens T, Geroldi A, Origone P, Verdiani S, Cichero E, Adriaenssens E, De Winter V, Bandettini di Poggio M, Barberis M, Chiò A, Fossa P, Mandich P, Bellone E, and Timmerman V
- Subjects
- Aged, Amyotrophic Lateral Sclerosis metabolism, Female, Genetic Predisposition to Disease, HSP27 Heat-Shock Proteins chemistry, Heat-Shock Proteins, Humans, Italy, Middle Aged, Molecular Chaperones, Protein Multimerization, Amyotrophic Lateral Sclerosis genetics, HSP27 Heat-Shock Proteins genetics, HSP27 Heat-Shock Proteins metabolism, Mutation
- Abstract
Genetic discoveries in amyotrophic lateral sclerosis (ALS) have a significant impact on deciphering molecular mechanisms of motor neuron degeneration but, despite recent advances, the etiology of most sporadic cases remains elusive. Several cellular mechanisms contribute to the motor neuron degeneration in ALS, including RNA metabolism, cellular interactions between neurons and nonneuronal cells, and seeding of misfolded protein with prion-like propagation. In this scenario, the importance of protein turnover and degradation in motor neuron homeostasis gained increased recognition. In this study, we evaluated the role of the candidate gene HSPB1, a molecular chaperone involved in several proteome-maintenance functions. In a cohort of 247 unrelated Italian ALS patients, we identified two variants (c.570G>C, p.Gln190His and c.610dupG, p.Ala204Glyfs
* 6). Functional characterization of the p.Ala204Glyfs* 6 demonstrated that the mutant protein alters HSPB1 dynamic equilibrium, sequestering the wild-type protein in a stable dimer and resulting in a loss of chaperone-like activity. Our results underline the relevance of identifying rare but pathogenic variations in sporadic neurodegenerative diseases, suggesting a possible correlation between specific pathomechanisms linked to HSPB1 mutations and the associated neurological phenotype. Our study provides additional lines of evidence to support the involvement of HSPB1 in the pathogenesis of sporadic ALS., (© 2016 The Authors. **Human Mutation published by Wiley Periodicals, Inc.)- Published
- 2016
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15. Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: An update of LIGALS register.
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Scialò C, Novi G, Bandettini di Poggio M, Canosa A, Sormani MP, Mandich P, Origone P, Truffelli R, Mancardi GL, and Caponnetto C
- Subjects
- Adult, Aged, Aged, 80 and over, Amyotrophic Lateral Sclerosis diagnosis, Amyotrophic Lateral Sclerosis genetics, Amyotrophic Lateral Sclerosis mortality, Analysis of Variance, C9orf72 Protein, DNA-Binding Proteins genetics, Female, Humans, Incidence, Italy epidemiology, Longitudinal Studies, Male, Middle Aged, Mutation genetics, Prevalence, Proteins genetics, Retrospective Studies, Surveys and Questionnaires, Survival Analysis, Amyotrophic Lateral Sclerosis epidemiology, Registries
- Abstract
Our objectives were: (1) to assess amyotrophic lateral sclerosis (ALS) incidence and its trend over time in Liguria, an Italian north-western region, performing an analysis of data prospectively collected from 1 January 2009 to 31 December 2014; (2) to determine the mean and median survival in the 2009-2014 Ligurian ALS incident cases; and (3) to evaluate the presence of disease prognostic factors. The Liguria Register for ALS (LIGALS) is an ongoing, multicentre prospective register enrolling all ALS incident cases in Liguria. Cases were identified using several concurrent sources. ALS diagnosis was based on El Escorial revised criteria (EEC-R). Two hundred and ninety-eight patients were enrolled in this study. The mean annual crude incidence rate in the 2009-2014 period was 3.11/100,000 population (95% CI 2.77-3.49); the point prevalence at 31 December 2014 was 7.85/100,000 (95% CI 6.54-9.36) population. Survival analysis demonstrated a median survival from symptom onset of 37.0 months (95% CI 32.0-42.0). In conclusion, ALS crude incidence in Liguria is higher compared to other Italian regions. Clinical and epidemiological data are comparable with those of the Italian ALS population. Survival analysis showed that higher age at onset, bulbar onset, definite EEC-R diagnostic category and a shorter diagnostic delay are related with worse outcomes.
- Published
- 2016
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16. A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient.
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Origone P, Verdiani S, Bandettini Di Poggio M, Zuccarino R, Vignolo M, Caponnetto C, and Mandich P
- Subjects
- Disease Progression, Exons genetics, Humans, Italy, Mutation, Missense, Amyotrophic Lateral Sclerosis genetics, Nuclear Matrix-Associated Proteins genetics, RNA-Binding Proteins genetics, White People genetics
- Published
- 2015
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17. Plasma amino acids patterns and age of onset of amyotrophic lateral sclerosis.
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Cecchi M, Messina P, Airoldi L, Pupillo E, Bandettini di Poggio M, Calvo A, Filosto M, Lunetta C, Mandrioli J, Pisa F, Pastorelli R, and Beghi E
- Subjects
- Adult, Age of Onset, Aged, Aged, 80 and over, Analysis of Variance, Area Under Curve, Case-Control Studies, Female, Humans, Italy, Male, Mass Spectrometry, Middle Aged, Amino Acids blood, Amyotrophic Lateral Sclerosis blood, Amyotrophic Lateral Sclerosis diagnosis
- Abstract
The aim of this study was to verify whether abnormalities in plasma amino acid (AA) levels could be biological correlates of the age of onset in amyotrophic lateral sclerosis (ALS). We undertook plasma AA profiling in a large population comprising 117 newly diagnosed ALS patients and 117 matched controls. ALS patients were stratified in early (58 patients aged < 55 years) versus late onset (59 patients aged > 74 years). We applied a rapid and reproducible method for the analysis of AA using amine reactive isotope coded tags in conjunction with liquid chromatography coupled to Multiple Reaction Monitoring-Mass Spectrometry. Results showed that values of only three AA were significantly different in ALS patients and controls. We found lower levels of leucine and higher levels of glutamate and leucine in early-onset ALS compared to their matched controls. In conclusion, different AA patterns related to the ALS age of onset were found, providing insight into possibly aberrant biochemical pathways that might unlock key pathological pathways.
- Published
- 2014
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18. Physical activity and amyotrophic lateral sclerosis: a European population-based case-control study.
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Pupillo E, Messina P, Giussani G, Logroscino G, Zoccolella S, Chiò A, Calvo A, Corbo M, Lunetta C, Marin B, Mitchell D, Hardiman O, Rooney J, Stevic Z, Bandettini di Poggio M, Filosto M, Cotelli MS, Perini M, Riva N, Tremolizzo L, Vitelli E, Damiani D, and Beghi E
- Subjects
- Adult, Aged, Aged, 80 and over, Amyotrophic Lateral Sclerosis diagnosis, Case-Control Studies, Europe epidemiology, Female, Humans, Male, Middle Aged, Amyotrophic Lateral Sclerosis epidemiology, Amyotrophic Lateral Sclerosis prevention & control, Exercise physiology, Motor Activity physiology, Population Surveillance methods
- Abstract
Objective: To assess whether physical activity is a risk factor for amyotrophic lateral sclerosis (ALS)., Methods: From February 2008 to April 2012, 652 patients with ALS from European population-based registries (France, Ireland, Italy, United Kingdom, Serbia) and 1,166 population controls (matched for age, sex, and residency) were assessed. Upon direct interview, data were collected on occupation and history of sport and leisure activities, physical activity, and accidental injuries. Physical exercise was defined as having spent time doing activities that caused an individual to breath hard at least once per month and was coded as none, job-related, and/or sport-related. Sport-related and work-related physical exercise were quantified using metabolic equivalents (METs). Risks were calculated using conditional logistic regression models (adjusting for age, country, trauma, and job-related physical activity) and expressed as odds ratios (ORs) and adjusted ORs (Adj ORs) with 95% confidence intervals (CIs)., Results: Overall physical activity was associated with reduced odds of having ALS (Adj OR=0.65, 95% CI=0.48-0.89) as were work-related physical activity (Adj OR=0.56, 95% CI=0.36-0.87) and organized sports (Adj OR=0.49, 95% CI=0.32-0.75). An inverse correlation was observed between ALS, the duration of physical activity (p=0.0041), and the cumulative MET scores, which became significant for the highest exposure (Adj OR=0.34, 95% CI=0.21-0.54). An inverse correlation between ALS and sport was found in women but not in men, and in subjects with repeated traumatic events., Interpretation: Physical activity is not a risk factor for ALS and may eventually be protective against the disease., (© 2014 American Neurological Association.)
- Published
- 2014
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19. Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient.
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Bandettini Di Poggio M, Monti Bragadin M, Reni L, Doria-Lamba L, Cereda C, Pardini M, Roccatagliata L, Rossi A, and Schenone A
- Subjects
- Bulbar Palsy, Progressive physiopathology, Bulbar Palsy, Progressive therapy, Child, Evoked Potentials, Auditory, Brain Stem physiology, Hearing Loss, Sensorineural physiopathology, Hearing Loss, Sensorineural therapy, Humans, Immunoglobulins, Intravenous therapeutic use, Magnetic Resonance Imaging, Male, Neural Conduction, Brain pathology, Bulbar Palsy, Progressive diagnosis, Bulbar Palsy, Progressive genetics, Hearing Loss, Sensorineural diagnosis, Hearing Loss, Sensorineural genetics, Membrane Transport Proteins genetics, Mutation genetics
- Abstract
The Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder characterized by progressive pontobulbar palsy, sensorineural deafness and mixed spinal and upper motor neuropathy. Mutations in the C20orf54 gene have been linked to the disease and recently we reported the first Italian case of a BVVLS family with an intriguing C20orf54 genotype. However, the pathomechanisms underlying BVVLS are still unknown. Here we present the particular disease course with partial response to immunosuppressive therapy of our BVVLS patient for whom we hypothesize that dysimmune factors may have played a role in disease physiopathology.
- Published
- 2014
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20. Whole-blood global DNA methylation is increased in amyotrophic lateral sclerosis independently of age of onset.
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Tremolizzo L, Messina P, Conti E, Sala G, Cecchi M, Airoldi L, Pastorelli R, Pupillo E, Bandettini Di Poggio M, Filosto M, Lunetta C, Agliardi C, Guerini F, Mandrioli J, Calvo A, Beghi E, and Ferrarese C
- Subjects
- Adult, Age of Onset, Aged, Aged, 80 and over, Analysis of Variance, Chromatography, Liquid, Deoxycytosine Nucleotides, Female, Homocysteine blood, Humans, Male, Methionine blood, Middle Aged, ROC Curve, Tritium, Amyotrophic Lateral Sclerosis blood, Amyotrophic Lateral Sclerosis genetics, DNA Methylation genetics
- Abstract
ALS is a heterogeneous disease that is not well understood. Epigenetic rearrangements are important in complex disorders including motor neuron diseases. The aim of this study was to determine whether whole-blood DNA methylation (DNA MET %) is a potential modifier of age at onset in ALS. DNA MET % was measured as incorporation of [(3)H]dCTP following HpaII cut in 96 ALS patients and 87 controls, comprising: early-onset (< 55 years of age) and late-onset (> 74 years of age). Methionine (Met) and homocysteine (Hcy) plasma levels were assessed by liquid chromatography selected reaction monitoring coupled with isotope-dilution mass spectrometry. Results showed that DNA MET % was increased in ALS patients independently of age of onset. Compared to the other three groups, Hcy plasma levels were reduced in early-onset ALS patients but Met levels were similar. ROC analysis reported Met levels and DNA MET %, respectively, with a slight and moderate discriminative power. In conclusion, increased DNA MET % is a possible marker of epigenetic dysfunction in ALS independently of age of onset. Further studies dissecting biological determinants of phenotypic complexity in ALS may help in developing successful therapeutic strategies.
- Published
- 2014
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21. Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation.
- Author
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Bandettini di Poggio M, Nesti C, Bruno C, Meschini MC, Schenone A, and Santorelli FM
- Subjects
- Benzothiazoles therapeutic use, DNA Mutational Analysis, DNA Polymerase gamma, DNA-Directed DNA Polymerase metabolism, Duloxetine Hydrochloride, Dysarthria complications, Dysarthria pathology, Female, Hereditary Sensory and Motor Neuropathy complications, Hereditary Sensory and Motor Neuropathy pathology, Humans, Middle Aged, Mitochondria enzymology, Ophthalmoplegia complications, Ophthalmoplegia pathology, Parkinson Disease complications, Pramipexole, Thiophenes therapeutic use, Tomography, Emission-Computed, Single-Photon, DNA-Directed DNA Polymerase genetics, Dopamine Agonists therapeutic use, Dysarthria genetics, Hereditary Sensory and Motor Neuropathy genetics, Ophthalmoplegia genetics, Parkinson Disease drug therapy
- Abstract
Background: Disorders of oxidative phosphorylation affects 1/5000 individuals and present heterogeneous involvement of tissues highly dependent upon ATP production., Case Presentation: Here we present the case of a 48-year-old woman carrying a homozygous mutation (p.A899T) in mitochondrial polymerase gamma (POLG) and manifesting with a complex neurological phenotype including Dopamine-agonist responsive Parkinsonism., Conclusion: This case report is further evidence that mitochondrial dysfunction might play a role in Parkinson's Disease pathogenesis and helps in identification of apparent mutation-specific clinical characteristics. Mutations in POLG should be looked for in cases of Parkinsonism, especially when multisystem neurological involvement is found.
- Published
- 2013
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22. Neuropathy and levodopa in Parkinson's disease: evidence from a multicenter study.
- Author
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Ceravolo R, Cossu G, Bandettini di Poggio M, Santoro L, Barone P, Zibetti M, Frosini D, Nicoletti V, Manganelli F, Iodice R, Picillo M, Merola A, Lopiano L, Paribello A, Manca D, Melis M, Marchese R, Borelli P, Mereu A, Contu P, Abbruzzese G, and Bonuccelli U
- Subjects
- Aged, Antiparkinson Agents therapeutic use, Female, Homocysteine blood, Humans, Hyperhomocysteinemia chemically induced, Levodopa therapeutic use, Logistic Models, Male, Middle Aged, Neural Conduction drug effects, Parkinson Disease drug therapy, Peripheral Nervous System Diseases epidemiology, Peripheral Nervous System Diseases physiopathology, Prevalence, Risk, Vitamin B 12 blood, Antiparkinson Agents adverse effects, Levodopa adverse effects, Parkinson Disease complications, Parkinson Disease epidemiology, Peripheral Nervous System Diseases chemically induced
- Abstract
The objectives of this study were to evaluate the risk of neuropathy in patients with Parkinson's disease (PD) and to evaluate the role of levodopa exposure as a potential risk factor. A multicenter study of 330 patients with PD and 137 healthy controls with a comparable age distribution was performed. With respect to levodopa exposure, 144 patients had long exposure (≥ 3 years) to levodopa (LELD), 103 patients had short exposure (<3 years) to levodopa (SELD), and 83 patients had no exposure to levodopa (NOLD). Nerve function was evaluated using the reduced total neuropathy score. Right sural sensory antidromic and peroneal motor nerve conduction studies were performed by neurophysiologists who were blinded to the existence of neuropathy clinical features or PD treatment. Overall, 19.40% of patients in the LELD group, 6.80% in the SELD group, 4.82% in the NOLD group, and 8.76% in the control group were diagnosed with neuropathy (axonal, predominantly sensory). Multivariate logistic analysis indicated that the risk of neuropathy was not influenced by disease duration, severity, or sex. The risk of neuropathy increased by approximately 8% for each year of age (P < 0.001; odds ratio [OR], 1.08; 95% confidence interval [CI], 1.037-1.128). The risk of neuropathy was 2.38 higher in the LELD group than in the control group (P = 0.022; OR, 2.38; 95% CI, 1.130-5.014). In a comparison between patients with and without neuropathy (Student's t test), the levodopa dose was higher (P < 0.0001), serum vitamin B12 levels were lower (P = 0.0102), and homocysteine levels were higher (P < 0.001) in the patients with neuropathy. Our results demonstrate that the duration of exposure to levodopa, along with age, is the main risk factor for the development of neuropathy. Screening for homocysteine and vitamin B12 levels and clinical-neurophysiological monitoring for neuropathy may be advisable in patients with PD who are receiving treatment with levodopa., (© 2013 International Parkinson and Movement Disorder Society.)
- Published
- 2013
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23. Myasthenia gravis developing in an HIV-negative patient with Kaposi's sarcoma.
- Author
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Mantero V, Mascolo M, Bandettini di Poggio M, Caponnetto C, and Pardini M
- Subjects
- Humans, Male, Middle Aged, Myasthenia Gravis blood, Sarcoma, Kaposi blood, HIV Seronegativity physiology, Myasthenia Gravis diagnosis, Myasthenia Gravis etiology, Sarcoma, Kaposi complications, Sarcoma, Kaposi diagnosis
- Abstract
Myasthenia gravis is a disorder of neuromuscular transmission caused by autoimmune mechanisms. We reported a possible association between seropositive myasthenia gravis and Kaposi's sarcoma in a HIV-negative subject and the observed interactions between the treatment regimen for these two conditions. A 62-year-old man came to our attention for ocular myasthenia gravis. He suffered from a classic form of Kaposi's sarcoma since about 1 year. When myasthenic symptoms worsened, the patient was started on prednisone and azathioprine. The patient had a significant worsening of Kaposi's sarcoma, so prednisone and azathioprine were reduced and he was treated with vinblastine, with improvement both in dermatologic than in neurological symptomatology. We propose some considerations: the potential correlation between Kaposi's sarcoma and myasthenia gravis through immunological mechanism; myasthenia gravis as a paraneoplastic manifestation of Kaposi's sarcoma, and the role of an antitumoral agent as a treatment for both the conditions.
- Published
- 2013
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24. A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family.
- Author
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Bandettini di Poggio M, Gagliardi S, Pardini M, Marchioni E, Monti Bragadin M, Reni L, Doria-Lamba L, Roccatagliata L, Ceroni M, Schenone A, and Cereda C
- Subjects
- Amino Acid Sequence, Female, Heterozygote, Humans, Italy, Male, Molecular Sequence Data, Mutation, Pedigree, Bulbar Palsy, Progressive genetics, Genetic Predisposition to Disease genetics, Hearing Loss, Sensorineural genetics, Membrane Transport Proteins genetics
- Published
- 2013
- Full Text
- View/download PDF
25. Validation of the Italian version of the Movement Disorder Society--Unified Parkinson's Disease Rating Scale.
- Author
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Antonini A, Abbruzzese G, Ferini-Strambi L, Tilley B, Huang J, Stebbins GT, Goetz CG, Barone P, Bandettini di Poggio M, Fabbrini G, Di Stasio F, Tinazzi M, Bovi T, Ramat S, Meoni S, Pezzoli G, Canesi M, Martinelli P, Maria Scaglione CL, Rossi A, Tambasco N, Santangelo G, Picillo M, Morgante L, Morgante F, Quatrale R, Sensi M, Pilleri M, Biundo R, Nordera G, Caria A, Pacchetti C, Zangaglia R, Lopiano L, Zibetti M, Zappia M, Nicoletti A, Quattrone A, Salsone M, Cossu G, Murgia D, Albanese A, and Del Sorbo F
- Subjects
- Disability Evaluation, Factor Analysis, Statistical, Female, Humans, Italy, Male, Neuropsychological Tests, Reproducibility of Results, Severity of Illness Index, Translations, Movement Disorders, Neurologic Examination methods, Neurologic Examination standards, Parkinson Disease diagnosis, Societies, Medical standards
- Abstract
The Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) has been available in English since 2008. As part of this process, the MDS-UPDRS organizing team developed guidelines for development of official non-English translations. We present here the formal process for completing officially approved non-English versions of the MDS-UPDRS and specifically focus on the first of these versions in Italian. The MDS-UPDRS was translated into Italian and tested in 377 native-Italian speaking PD patients. Confirmatory and exploratory factor analyses determined whether the factor structure for the English-language MDS-UPDRS could be confirmed in data collected using the Italian translation. To be designated an 'Official MDS translation,' the Comparative Fit Index (CFI) had to be ≥0.90 relative to the English-language version. For all four parts of the Italian MDS-UPDRS, the CFI, in comparison with the English-language data, was ≥0.94. Exploratory factor analyses revealed some differences between the two datasets, however these differences were considered to be within an acceptable range. The Italian version of the MDS-UPDRS reaches the criterion to be designated as an Official Translation and is now available for use. This protocol will serve as outline for further validation of this in multiple languages.
- Published
- 2013
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26. The FIG4 gene does not play a major role in causing ALS in Italian patients.
- Author
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Verdiani S, Origone P, Geroldi A, Bandettini Di Poggio M, Mantero V, Bellone E, Mancardi G, Caponnetto C, and Mandich P
- Subjects
- Amyotrophic Lateral Sclerosis epidemiology, Cohort Studies, Humans, Italy epidemiology, Phosphoric Monoester Hydrolases, Amyotrophic Lateral Sclerosis diagnosis, Amyotrophic Lateral Sclerosis genetics, Flavoproteins genetics, Genetic Variation genetics, Mutation genetics
- Published
- 2013
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27. Clinical epidemiology of ALS in Liguria, Italy.
- Author
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Bandettini di Poggio M, Sormani MP, Truffelli R, Mandich P, Origone P, Verdiani S, Mantero V, Scialò C, Schenone A, Mancardi GL, and Caponnetto C
- Subjects
- Adult, Aged, Aged, 80 and over, Female, Humans, Incidence, Italy epidemiology, Male, Middle Aged, Prevalence, Risk Factors, Sex Distribution, Survival Analysis, Survival Rate, Amyotrophic Lateral Sclerosis diagnosis, Amyotrophic Lateral Sclerosis epidemiology, Registries
- Abstract
Our objective was to assess the incidence and trends of amyotrophic lateral sclerosis (ALS) in Liguria, a north-west region of Italy, utilizing a prospective design. Liguria (1,615,064 residents in 2010) is the site of a multicentre-multisource prospective population based registry called LIGALS (Liguria Amyotrophic Lateral Sclerosis Registry). All incident ALS cases during the period 2009-2010 were enrolled and followed up. Cases were identified using several concurrent sources. ALS diagnosis was based on the revised El Escorial criteria. One hundred and four cases were enrolled, generating an annual crude incidence of 3.22/100,000 (95% CI 2.66-3.90), with a male/female ratio of 1.34. The annual standardized incidence, age and gender adjusted to the 2001 Italian population, was 2.51. At last observation on 1 March 2012, 45% of patients registered in the LIGALS had died, with a median survival of 45 months from symptoms onset. According to capture-recapture estimation, three patients were unobserved. For both genders, demographic and clinical features were collected. In conclusion, comparing these data to those of epidemiological studies with a similar prospective design, the occurrence of ALS is similar. The observed crude incidence was higher compared to other Italian studies, due in part to a very careful case ascertainment and in part to a high percentage of the elderly in Liguria.
- Published
- 2013
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28. Whole body cholesterol metabolism is impaired in Huntington's disease.
- Author
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Leoni V, Mariotti C, Nanetti L, Salvatore E, Squitieri F, Bentivoglio AR, Bandettini di Poggio M, Piacentini S, Monza D, Valenza M, Cattaneo E, and Di Donato S
- Subjects
- Adult, Female, Humans, Male, Middle Aged, Brain metabolism, Cholesterol metabolism, Huntington Disease metabolism
- Abstract
We previously reported impaired cholesterol biosynthesis in rodent Huntington Disease (HD) models and HD patients' fibroblasts and post mortem brains. We also found that plasma levels of 24S-hydroxycholesterol (24OHC), the brain specific elimination product of cholesterol considered a marker of brain cholesterol turnover, were significantly reduced in HD patients at any disease stage. In the present study we analysed by mass spectrometry the fasting plasma levels of cholesterol, its biosynthetic precursors lanosterol and lathosterol, of the whole-body elimination products 27-hydroxycholesterol and of brain 24OHC in a cohort of premanifest and HD patients at different disease stages. We found that the cholesterol precursors lanosterol and lathosterol (both index of whole body cholesterol synthesis), the levels of the bile acid precursor 27-hydroxycholesterol, and of the brain specific 24OHC, were all significantly reduced in manifest HD patients, suggesting that whole-body and brain cholesterol homeostasis are both impaired in HD., (Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.)
- Published
- 2011
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29. Clarithromycin-induced neurotoxicity in adults.
- Author
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Bandettini di Poggio M, Anfosso S, Audenino D, and Primavera A
- Subjects
- Adult, Aged, Aged, 80 and over, Comorbidity, Delirium chemically induced, Delirium epidemiology, Electroencephalography, Female, Humans, Male, Middle Aged, Neurotoxicity Syndromes epidemiology, Status Epilepticus chemically induced, Status Epilepticus epidemiology, Young Adult, Anti-Bacterial Agents adverse effects, Clarithromycin adverse effects, Neurotoxicity Syndromes etiology, Neurotoxicity Syndromes physiopathology
- Abstract
Clarithromycin is a relatively new antibiotic of the macrolide family heralded for an improved side effect profile, dosing schedule, and microbiological activity relative to its parent compound, erythromycin. We review the literature on clarithromycin-induced neurotoxicity in adults and present an illustrative case. A total of 38 patients with clarithromycin-induced neurotoxicity have been reported. The average age of patients was 51.3 years (range: 19-87 years) with females comprising 52.6% of patients. Psychiatric illness was the most common comorbidity, while only two patients had renal failure. Clarithromycin had been prescribed for respiratory infections in most patients, and only two patients were receiving more than 1000 mg/day of antibiotic. The symptoms started 1 day to 10 days after starting clarithromycin (mean: 5 days). A total of 71% of patients were under treatment with concomitant medication, and eight patients were undergoing treatment with psychoactive drugs. Patients had a very good outcome after clarithromycin was discontinued, but medication with neuroleptics or benzodiazepine was required for 58% of patients in the acute phase. Only four patients underwent an electroencephalogram (EEG). Our illustrative patient was a 74-year-old woman with clarithromycin-induced delirium due to non-convulsive status epilepticus (NCSE). Her clinical symptoms and electroencephalogram (EEG) readings dramatically improved after discontinuation of clarithromycin. The mechanism underlying the central nervous system side effects remains unclear. We suggest including an EEG in the diagnostic procedures of patients under treatment with clarithromycin who develop features of neurotoxicity because an EEG can help to differentiate patients with psychiatric illness from those with encephalopathy or epilepsy. Because of the widespread use of clarithromycin, clinicians should be aware of its neurotoxicity. Early detection of clarithromycin-induced neurotoxicity and discontinuation of the drug may result in full recovery., (Copyright © 2010 Elsevier Ltd. All rights reserved.)
- Published
- 2011
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30. Antiphospholipid syndrome and reversible posterior leukoencephalopathy syndrome.
- Author
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Bandettini di Poggio M, Murdaca G, Puppo F, and Primavera A
- Subjects
- Adult, Comorbidity, Humans, Immunosuppressive Agents therapeutic use, Male, Posterior Leukoencephalopathy Syndrome drug therapy, Treatment Outcome, Antiphospholipid Syndrome epidemiology, Hypertension complications, Posterior Leukoencephalopathy Syndrome epidemiology, Posterior Leukoencephalopathy Syndrome etiology, Renal Insufficiency complications
- Published
- 2010
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31. A case of secondary syphilis presenting as optic neuritis.
- Author
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Bandettini di Poggio M, Primavera A, Capello E, Bandini F, Mazzarello G, Viscoli C, and Schenone A
- Subjects
- Anti-Bacterial Agents therapeutic use, Diagnosis, Differential, Disease Progression, Homosexuality, Male, Humans, Male, Middle Aged, Neurosyphilis drug therapy, Neurosyphilis pathology, Optic Disk pathology, Optic Neuritis pathology, Penicillin G therapeutic use, Time Factors, Treatment Outcome, Neurosyphilis diagnosis, Optic Neuritis diagnosis
- Abstract
Neurosyphilis is still a significant medical problem in developing countries and syphilitic ocular manifestations are often not diagnosed due to the lack of typical characteristics. We describe the case of a 59-year-old homosexual man with a 1-month history of decreased vision acuity in his left eye who was diagnosed with neurosyphilis and received treatment with intravenous penicillin G (16 million units in divided daily doses), with great improvement of visual acuity and CSF examination findings. The interest of this case is not only represented by the unusually early ocular involvement, but also by the rapid evolution of the disease into the secondary stage in a man who had had one at-risk homosexual relationship only 3 months before the onset symptoms. We also support the view that the presence of ocular involvement in syphilitic patients is suggestive of involvement of the CNS and should be considered synonymous with neurosyphilis.
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- 2010
- Full Text
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32. Whole body and cardiac metaiodobenzylguanidine kinetics in Parkinson disease and multiple system atrophy: implications for the diagnostic role of imaging.
- Author
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Marini C, Bandettini di Poggio M, Pomposelli E, Marchese R, Nobili F, Morbelli SD, Villa G, Abbruzzese G, and Sambuceti G
- Subjects
- 3-Iodobenzylguanidine administration & dosage, Aged, Diagnosis, Differential, Female, Humans, Injections, Intravenous, Kinetics, Male, Middle Aged, Radionuclide Imaging, 3-Iodobenzylguanidine pharmacokinetics, Heart diagnostic imaging, Multiple System Atrophy diagnostic imaging, Parkinson Disease diagnostic imaging, Radiopharmaceuticals pharmacokinetics, Whole Body Imaging methods
- Abstract
Purpose of the Report: This study investigates whether combined analysis of I-123 metaiodobenzylguanidine (MIBG) kinetics in the heart and in the whole body can improve the accuracy of differential diagnosis between idiopathic Parkinson disease (PD) and a Parkinson variant of multiple system atrophy (MSA-P)., Materials and Methods: A total of 30 patients with clinical suspicion of PD (n = 16) or MSA-P (n = 14) underwent MIBG whole-body planar imaging. Final diagnosis was confirmed at follow-up. Images were collected 30 minutes and 4 hours after tracer injection. Myocardial uptake was evaluated by measuring heart/mediastinum (H/M) ratio and the percent fraction of the injected dose retained by the heart (calculated by whole-body counts). Tracer washout was measured from both the heart and the whole body., Results: H/M ratio was lower in PD than in MSA-P at early imaging (1.32 +/- 0.21 vs. 1.81 +/- 0.46, respectively, P < 0.01), although a large overlap in individual data was observed. By contrast, % of injected dose taken up by the heart documented a large difference between PD and MSA-P (0.97% +/- 0.51% vs. 1.91% +/- 0.66% of the dose, P < 0.01), and a very small overlap in individual values. There was no difference in the heart washout between the 2 Groups (31% +/- 13% vs. 32% +/- 15%, P = 0.9), while tracer loss from the whole body was higher in PD than in MSA-P (29% +/- 12% vs. 19% +/- 10%, P < 0.01)., Conclusions: PD and its correlated global postganglionic dysfunction alter MIBG kinetics in the heart and in the whole body. Image analysis accounting for tracer kinetics in the whole body may improve the diagnostic accuracy of this test in patients with suspected PD or MSA-P.
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- 2010
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33. Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling.
- Author
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Origone P, Caponnetto C, Bandettini Di Poggio M, Ghiglione E, Bellone E, Ferrandes G, Mancardi GL, and Mandich P
- Subjects
- Aged, Aged, 80 and over, Amino Acid Sequence, Bacterial Proteins, Exons genetics, Family Health, Female, Genetic Variation, Humans, Introns genetics, Italy, Male, Middle Aged, Molecular Sequence Data, Pedigree, Phenotype, Amyotrophic Lateral Sclerosis genetics, DNA-Binding Proteins genetics, Genetic Counseling, Point Mutation
- Abstract
Objective: The present study was aimed to enlarge the Italian ALS sample analysed for TARDBP gene mutations., Methods: Genomic DNA from 47 patients, 70 FTD patients and 158 controls was extracted from peripheral blood samples according to a standard protocol. The five coding exons (2-6) of the TARDBP gene and the flanking exon-intron boundaries were analysed by direct sequencing. Using ClustalW2 human TDP-43, protein sequence was aligned with TDP-43 protein sequence of different species., Results: A heterozygous c.1178 C-->T transition that leads to a change p.S393L was observed in a 75-years-old male patient and in his two affected siblings. A patient's brother had died at 69 years of age after a two-year history of ALS. In FTD patients no mutations were found., Conclusions: We describe a further Italian family with FALS, in which a variant (p.S393L) of the TARDBP gene was identified. Clinical course and phenotypic variability in three affected siblings is presented and relevance for genetic counselling of patients and their families is underlined. At the present state of knowledge, we suggest that the same guidelines established for SOD1 molecular testing could be proposed also for TARDBP analysis in FALS.
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- 2010
- Full Text
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34. Carcinoma of the tongue mimicking bulbar amyotrophic lateral sclerosis.
- Author
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Bandettini di Poggio M, Brogi D, Leonardi A, Pizzorno M, Schenone G, Mancardi GL, Capello E, and Schenone A
- Subjects
- Aged, Bulbar Palsy, Progressive physiopathology, Carcinoma pathology, Carcinoma physiopathology, Deglutition Disorders etiology, Deglutition Disorders pathology, Deglutition Disorders physiopathology, Diagnosis, Differential, Disease Progression, Dysarthria etiology, Dysarthria pathology, Dysarthria physiopathology, Fatal Outcome, Gastrostomy, Hemorrhage etiology, Humans, Male, Radiotherapy, Tomography, X-Ray Computed, Tongue pathology, Tongue physiopathology, Tongue Neoplasms pathology, Tongue Neoplasms physiopathology, Amyotrophic Lateral Sclerosis diagnosis, Bulbar Palsy, Progressive diagnosis, Carcinoma diagnosis, Diagnostic Errors prevention & control, Tongue Neoplasms diagnosis
- Published
- 2008
- Full Text
- View/download PDF
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