44 results on '"Checcarelli N"'
Search Results
2. Multiple sclerosis and mitochondrial myopathy: An unusual combination of diseases
- Author
-
Bet, L., Moggio, M., Comi, G. P., Mariani, C., Prelle, A., Checcarelli, N., Bordoni, A., Bresolin, N., Scarpini, E., and Scarlato, G.
- Published
- 1994
- Full Text
- View/download PDF
3. Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level
- Author
-
Prelle, A., Fagiolari, G., Checcarelli, N., Moggio, M., Battistel, A., Comi, G.P., Bazzi, P., Bordoni, A., Zeviani, M., and Scarlato, G.
- Published
- 1994
- Full Text
- View/download PDF
4. Desmin and Vimentin as markers of regeneration in muscle diseases
- Author
-
Gallanti, A., Prelle, A., Moggio, M., Ciscato, P., Checcarelli, N., Sciacco, M., Comini, A., and Scarlato, G.
- Published
- 1992
- Full Text
- View/download PDF
5. Determinants of premature familial arterial thrombosis in patient with Juvenile ischaemic stroke. The Italian Project on Stroke in Young Adults ( IPSYS)
- Author
-
Pezzini, A, Grassi, M, Lodigiani, C, Patella, Rosalba, Gandolfo, C, Zini, A, Delodovici, Ml, Paciaroni, M, Del Sette, M, Toriello, A, Musolino, R, Calabrò, Rs, Bovi, P, Adami, A, Silvestrelli, G, Sessa, M, Cavallini, A, Marcheselli, S, Bonifati, Dm, Checcarelli, N, Tancredi, L, Chiti, A, Del Zotto, E, Spalloni, A, Costa, P, Giacalone, G, Ferrazzi, P, Poli, L, Morotti, A, Rasura, Maurizia, Simone, Am, Gamba, M, Cerrato, P, Micieli, G, Melis, M, Massucco, D, De Giuli, V, Pepe, D, Iacoviello, L, Padovani, A, and on behalf of the Italian Project on Stroke in Young Adults Investigators
- Subjects
Male ,Familial aggregation ,Pediatrics ,Heredity ,Time Factors ,030204 cardiovascular system & hematology ,Brain Ischemia ,0302 clinical medicine ,Stroke in young adults ,Recurrence ,Risk Factors ,Odds Ratio ,Myocardial infarction ,Age of Onset ,Young adult ,Family history ,Stroke ,Smoking ,Family aggregation ,Hematology ,Middle Aged ,Prognosis ,Thrombosis ,Phenotype ,Italy ,Antibodies, Antiphospholipid ,Cohort studies ,Female ,Prothrombin ,Cohort study ,Adult ,medicine.medical_specialty ,Adolescent ,Arterial Occlusive Diseases ,Young Adult ,03 medical and health sciences ,Risk factors in epidemiology ,medicine ,Humans ,juvenile stroke ,Juvenile ,Genetic Predisposition to Disease ,Blood Coagulation ,Proportional Hazards Models ,Chi-Square Distribution ,business.industry ,Factor V ,medicine.disease ,Logistic Models ,Multivariate Analysis ,Mutation ,Physical therapy ,business ,Biomarkers ,030217 neurology & neurosurgery - Abstract
SummaryFactors predicting family history (FH) of premature arterial thrombosis in young patients with ischaemic stroke (IS) have not been extensively investigated, and whether they might influence the risk of post-stroke recurrence is still unknown. In the present study we analysed 1,881 consecutive first-ever IS patients aged 18–45 years recruited from January 2000 to January 2012 as part of the Italian Project on Stroke in Young Adults (IPSYS). FH of premature arterial thrombosis was any thrombotic event [IS, myocardial infarction or other arterial events event] > 45 years in proband’s first-degree relatives. Compared with patients without FH of premature arterial thrombosis, those with FH (n= 85) were more often smokers (odds ratio [OR], 1.94; 95 % confidence interval [CI], 1.21–3.09) and carriers of procoagulant abnormalities (OR, 3.66; 95 % CI, 2.21–6.06). Smoking (OR, 2.48; 95 % CI, 1.20–5.15), the A1691 mutation in factor V gene (OR, 3.64; 95 % CI, 1.31–10.10), and the A20210 mutation in the prothrombin gene (OR, 8.40; 95 % CI 3.35–21.05) were associated with FH of premature stroke (n = 33), while circulating anti-phospholipids to FH of premature myocardial infarction (n = 45; OR, 3.48; 95 % CI, 1.61–7.51). Mean follow-up time was 46.6 ± 38.6 months. Recurrent events occurred more frequently in the subgroup of patients with FH of premature stroke [19.4 %); p = 0.051] compared to patients without such a FH. In conclusion, young IS patients with FH of premature arterial thrombosis exhibit a distinct risk-factor profile, an underlying procoagulant state and have worse vascular prognosis than those with no FH of juvenile thrombotic events.
- Published
- 2015
6. Predictors of long-term recurrent vascular events after ischemic stroke at young age: the Italian Project on Stroke in Young Adults
- Author
-
Pezzini, A., Grassi, M., Lodigiani, C., Patella, R., Gandolfo, C., Zini, A., Delodovici, M. L., Paciaroni, M., Del Sette, M., Toriello, A., Musolino, R., Calabrò, R. S., Bovi, P., Adami, A., Silvestrelli, G., Sessa, M., Cavallini, A., Marcheselli, S., Bonifati, D. M., Checcarelli, N., Tancredi, L., Chiti, A., Del Zotto, E., Spalloni, A., Giossi, A., Volonghi, I., Costa, P., Giacalone, G., Ferrazzi, P., Poli, L., Morotti, A., Rasura, M., Simone, A., M, ., Gamba, M., Cerrato, P., Micieli, G., Melis, M., Massucco, D., De Giuli, V., Iacoviello, L., Padovani, A., Italian Project on Stroke in Young Adults Investigators, and Balestrino, Maurizio
- Subjects
Adult ,Male ,medicine.medical_specialty ,Time Factors ,stroke ,brain ischemia ,prognosis ,Brain Ischemia ,Brain ischemia ,Cohort Studies ,Age Factors ,Female ,Follow-Up Studies ,Humans ,Italy ,Predictive Value of Tests ,Prospective Studies ,Recurrence ,Stroke ,Young Adult ,Physiology (medical) ,Internal medicine ,medicine ,Myocardial infarction ,Young adult ,Prospective cohort study ,business.industry ,medicine.disease ,Migraine with aura ,Confidence interval ,Surgery ,Cardiology ,medicine.symptom ,Cardiology and Cardiovascular Medicine ,business ,Cohort study - Abstract
Background— Data on long-term risk and predictors of recurrent thrombotic events after ischemic stroke at a young age are limited. Methods and Results— We followed 1867 patients with first-ever ischemic stroke who were 18 to 45 years of age (mean age, 36.8±7.1 years; women, 49.0%), as part of the Italian Project on Stroke in Young Adults (IPSYS). Median follow-up was 40 months (25th to 75th percentile, 53). The primary end point was a composite of ischemic stroke, transient ischemic attack, myocardial infarction, or other arterial events. One hundred sixty-three patients had recurrent thrombotic events (average rate, 2.26 per 100 person-years at risk). At 10 years, cumulative risk was 14.7% (95% confidence interval, 12.2%–17.9%) for primary end point, 14.0% (95% confidence interval, 11.4%–17.1%) for brain ischemia, and 0.7% (95% confidence interval, 0.4%–1.3%) for myocardial infarction or other arterial events. Familial history of stroke, migraine with aura, circulating antiphospholipid antibodies, discontinuation of antiplatelet and antihypertensive medications, and any increase of 1 traditional vascular risk factor were independent predictors of the composite end point in multivariable Cox proportional hazards analysis. A point-scoring system for each variable was generated by their β-coefficients, and a predictive score (IPSYS score) was calculated as the sum of the weighted scores. The area under the receiver operating characteristic curve of the 0- to 5-year score was 0.66 (95% confidence interval, 0.61–0.71; mean, 10-fold internally cross-validated area under the receiver operating characteristic curve, 0.65). Conclusions— Among patients with ischemic stroke aged 18 to 45 years, the long-term risk of recurrent thrombotic events is associated with modifiable, age-specific risk factors. The IPSYS score may serve as a simple tool for risk estimation.
- Published
- 2014
7. Ictus ischemico in età giovanile
- Author
-
Pezzini, Alessandro, Grassi, M., Lodigiani, C., Patella, R., Gandolfo, C., Zini, A., Delodovici, M. L., paciaroni MD, M., Del Sette, M., Toriello, A., Musolino, R., Calabrò, R. S., Bovi, P., Adami, A., Silvestrelli, G., Sessa, M., Cavallini, A., Marcheselli, S., Bonifati, D. M., Checcarelli, N., Tancredi, L., Chiti, A., DEL ZOTTO, Elisabetta, Spalloni, A., Giossi, Alessia Alberica, Volonghi, Irene, Costa, Paolo, Giacalone, G., Ferrazzi, P., Poli, Loris, Morotti, Andrea, Rasura, M., Simone, A. M., Gamba, M., Cerrato, P., Micieli, G., Melis, M., Massucco, D., De Giuli MD, V., Iacoviello, L., and Padovani, Alessandro
- Published
- 2014
8. Endovascular Treatment for Acute Ischemic Stroke
- Author
-
Ciccone, A, Valvassori, L, Nichelatti, M, Sgoifo, A, Ponzio, M, Sterzi, R, Boccardi, E, SYNTHESIS Expansion Investigators: Gatti, A, Guccione, A, Motto, C, Santilli, I, Tortorella, R, Ferrante, E, Imbesi, F, Marazzi, R, Jann, S, Protti, A, Rizzone, M, Tiraboschi, P, Pero, G, Quilici, L, Piano, M, Zini, A, Casoni, F, Cavazzuti, M, Falzone, F, Nichelli, P, Vallone, S, Carpeggiani, P, Menetti, F, Guidotti, M, Checcarelli, N, Muscia, F, Martegani, A, Torgano, G, Mandelli, C, Zecca, B, Baron, P, Bersano, A, Branca, V, Isalberti, M, Papa, R, Paolucci, A, Magoni, M, Costa, A, Gamba, M, Gasparotti, R, Federico, F, Petruzzellis, M, Tartaglione, B, Mezzapesa, D, Chiumarulo, L, De Blasi, R, Agostoni, E, Botto, E, Longoni, M, Ballarini, V, Reganati, P, Malfatto, L, Rizzi, D, Serrati, C, Balestrino, M, Gandolfo, C, Castellan, L, Mavilio, N, Allegretti, L, Delodovici, Ml, Carimati, F, Verrengia, Ep, Bono, G, Perlasca, F, Craparo, G, Giorgianni, A, Azzini, C, De Vito, A, Tola, M, Saletti, A, Pozzessere, C, Corsi, F, Scifoni, G, Anticoli, S, Pezzella, Fr, Cotroneo, E, Gigli, R, Nencini, P, Palumbo, V, Pantoni, L, Inzitari, D, Mangiafico, S, Chinaglia, M, Russo, M, L'Erario, R, Amistà, P, Malferrari, G, Nucera, A, Zedde, Ml, Dallari, A, Deberti, G, Falaschi, F, Martignoni, A, Zappoli, F, Marcheselli, S, Stival, B, Presbitero, P, Rossi, Ml, Belli, G, Paciaroni, M, Caso, V, Agnelli, Gc, Hamam, M, Bovi, P, Piovan, Enrico, Sessa, M, Scomazzoni, F, Arnaboldi, M, Tancredi, L, Peroni, R, Censori, B, Poloni, M, Lunghi, S, Bonaldi, G, Donati, E, Magni, E, Pavia, M, Cobelli, M, Bottacchi, E, Corso, G, Tosi, P, Cordera, S, Di Giovanni, M, Giardini, G, Meloni, T, Cristoferi, M, Natrella, M, Ruiz, L, Dell'Acqua, Ml, Rolandi, G, Gallesio, I, Sandercock, P, Candelise, L, del Zoppo, G, Ciceri, E, Doneda, P, Daolio, M, Caputo, D, del Zotto, E, Cantisani, T., Ciccone, A, Valvassori, L, Nichelatti, M, Sgoifo, M, Ponzio, M, Sterzi, R, Boccardi, E, and Comi, Giancarlo
- Subjects
Adult ,Male ,OCCLUSION ,Psychoanalysis ,RECANALIZATION ,Neuroimaging ,Article ,law.invention ,Brain Ischemia ,TISSUE-PLASMINOGEN-ACTIVATOR ,Randomized controlled trial ,Fibrinolytic Agents ,law ,Case fatality rate ,medicine ,Humans ,Single-Blind Method ,PROUROKINASE ,cardiovascular diseases ,Adverse effect ,Infusions, Intravenous ,Stroke ,Aged ,Cerebral Hemorrhage ,Thrombectomy ,business.industry ,Standard treatment ,Endovascular Procedures ,TISSUE-PLASMINOGEN-ACTIVATOR, CEREBRAL-ARTERY STROKE, RANDOMIZED-TRIAL, INTRAARTERIAL THROMBOLYSIS, INTRAVENOUS THROMBOLYSIS, OCCLUSION, REVASCULARIZATION, RECANALIZATION, PROUROKINASE, THROMBECTOMY ,Atrial fibrillation ,General Medicine ,Odds ratio ,Middle Aged ,medicine.disease ,INTRAARTERIAL THROMBOLYSIS ,Combined Modality Therapy ,RANDOMIZED-TRIAL ,Cerebral Angiography ,Treatment Outcome ,Anesthesia ,Tissue Plasminogen Activator ,Acute Disease ,REVASCULARIZATION ,Female ,INTRAVENOUS THROMBOLYSIS ,CEREBRAL-ARTERY STROKE ,business ,Fibrinolytic agent - Abstract
In patients with ischemic stroke, endovascular treatment results in a higher rate of recanalization of the affected cerebral artery than systemic intravenous thrombolytic therapy. However, comparison of the clinical efficacy of the two approaches is needed.We randomly assigned 362 patients with acute ischemic stroke, within 4.5 hours after onset, to endovascular therapy (intraarterial thrombolysis with recombinant tissue plasminogen activator [t-PA], mechanical clot disruption or retrieval, or a combination of these approaches) or intravenous t-PA. Treatments were to be given as soon as possible after randomization. The primary outcome was survival free of disability (defined as a modified Rankin score of 0 or 1 on a scale of 0 to 6, with 0 indicating no symptoms, 1 no clinically significant disability despite symptoms, and 6 death) at 3 months.A total of 181 patients were assigned to receive endovascular therapy, and 181 intravenous t-PA. The median time from stroke onset to the start of treatment was 3.75 hours for endovascular therapy and 2.75 hours for intravenous t-PA (P0.001). At 3 months, 55 patients in the endovascular-therapy group (30.4%) and 63 in the intravenous t-PA group (34.8%) were alive without disability (odds ratio adjusted for age, sex, stroke severity, and atrial fibrillation status at baseline, 0.71; 95% confidence interval, 0.44 to 1.14; P=0.16). Fatal or nonfatal symptomatic intracranial hemorrhage within 7 days occurred in 6% of the patients in each group, and there were no significant differences between groups in the rates of other serious adverse events or the case fatality rate.The results of this trial in patients with acute ischemic stroke indicate that endovascular therapy is not superior to standard treatment with intravenous t-PA. (Funded by the Italian Medicines Agency, ClinicalTrials.gov number, NCT00640367.).
- Published
- 2013
9. Clinical factors associated with statins prescription in acute ischemic stroke patients: findings from the Lombardia Stroke Registry
- Author
-
Canavero, I, Cavallini, A, Perrone, P, Magoni, M, Sacchi, L, Quaglini, S, Lanzola, G, Micieli, G, Adobbati, L, Silani, V, Agostoni, E, Scaccabarozzi, C, Arnaboldi, M, Vidale, S, Baietti, G, Bettoni, L, Balducci, U, Chia, F, Baron, P, Bresolin, N, Bassi, P, Bazzi, P, Crespi, V, Beretta, S, Bet, L, Meola, G, Bezzi, G, Boncoraglio, G, Parati, E, Bono, G, Delodovici, M, Bordo, B, Colombo, A, Borutti, G, Piccolo, G, Brusaferri, F, Prelle, A, Calloni, M, Camerlingo, M, Censori, B, Cerini, C, Turla, M, Checcarelli, N, Guidotti, M, Comi, G, Sessa, M, Costa, A, Donati, E, Ferrante, C, Frediani, F, Lattuada, P, Poloni, E, Gambaro, P, Mariani, C, Gomitoni, A, Grampa, G, Lanza, E, Magnoni, A, Marcheselli, S, Marsile, C, Molini, G, Sasanelli, F, Martignoni, A, Mattioli, M, Neromante, I, Porazzi, D, Poloni, M, Previdi, P, Silvestrelli, G, Riva, M, Zilioli, A, Romorini, A, Santilli, I, Tadeo, C, Zaccone, M, Zarcone, D., FERRARESE, CARLO, Canavero, I, Cavallini, A, Perrone, P, Magoni, M, Sacchi, L, Quaglini, S, Lanzola, G, Micieli, G, Adobbati, L, Silani, V, Agostoni, E, Scaccabarozzi, C, Arnaboldi, M, Vidale, S, Baietti, G, Bettoni, L, Balducci, U, Chia, F, Baron, P, Bresolin, N, Bassi, P, Bazzi, P, Crespi, V, Beretta, S, Ferrarese, C, Bet, L, Meola, G, Bezzi, G, Boncoraglio, G, Parati, E, Bono, G, Delodovici, M, Bordo, B, Colombo, A, Borutti, G, Piccolo, G, Brusaferri, F, Prelle, A, Calloni, M, Camerlingo, M, Censori, B, Cerini, C, Turla, M, Checcarelli, N, Guidotti, M, Comi, G, Sessa, M, Costa, A, Donati, E, Ferrante, C, Frediani, F, Lattuada, P, Poloni, E, Gambaro, P, Mariani, C, Gomitoni, A, Grampa, G, Lanza, E, Magnoni, A, Marcheselli, S, Marsile, C, Molini, G, Sasanelli, F, Martignoni, A, Mattioli, M, Neromante, I, Porazzi, D, Poloni, M, Previdi, P, Silvestrelli, G, Riva, M, Zilioli, A, Romorini, A, Santilli, I, Tadeo, C, Zaccone, M, and Zarcone, D
- Subjects
TOAST Classification ,Registrie ,Male ,medicine.medical_specialty ,Neurology ,Statin ,medicine.drug_class ,Clinical Neurology ,Follow-Up Studie ,Brain Ischemia ,Brain ischemia ,Risk Factors ,Internal medicine ,medicine ,Humans ,cardiovascular diseases ,Registries ,Medical prescription ,Stroke ,Aged ,Aged, 80 and over ,Ischemic stroke ,business.industry ,Risk Factor ,Statins ,Adherence ,Classification tree ,Performance predictors ,nutritional and metabolic diseases ,General Medicine ,medicine.disease ,Performance predictor ,Italy ,Physical therapy ,Female ,Neurosurgery ,Hydroxymethylglutaryl-CoA Reductase Inhibitor ,Neurology (clinical) ,Hydroxymethylglutaryl-CoA Reductase Inhibitors ,business ,Dyslipidemia ,Human ,Research Article ,Follow-Up Studies - Abstract
Background: Statins, due to their well-established pleiotropic effects, have noteworthy benefits in stroke prevention. Despite this, a significant proportion of high-risk patients still do not receive the recommended therapeutic regimens, and many others discontinue treatment after being started on them. The causes of non-adherence to current guidelines are multifactorial, and depend on both physicians and patients. The aim of this study is to identify the factors influencing statin prescription at Stroke Unit (SU) discharge.Methods: This study included 12,750 patients enrolled on the web-based Lombardia Stroke Registry (LRS) from July 2009 to April 2012 and discharged alive, with a diagnosis of ischemic stroke or transient ischemic attack (TIA) and without contra-indication to statin therapy. By logistic regression analysis and classification trees, we evaluated the impact of demographic data, risk factors, tPA treatment, in-hospital procedures and complications on statin prescription rate at discharge.Results: We observed a slight increase in statins prescription during the study period (from 39.1 to 43.9%). Lower age, lower stroke severity and prestroke disability, the presence of atherothrombotic/lacunar risk factors, a diagnosis of non-cardioembolic stroke, tPA treatment, the absence of in-hospital complications, with the sole exception of hypertensive fits and hyperglycemia, were the patient-related predictors of adherence to guidelines by physicians. Overall, dyslipidemia appears as the leading factor, while TOAST classification does not reach statistical significance.Conclusions: In our region, Lombardia, adherence to guidelines in statin prescription at Stroke Unit discharge is very different from international goals. The presence of dyslipidemia remains the main factor influencing statin prescription, while the presence of well-defined atherosclerotic etiopathogenesis of stroke does not enhance statin prescription. Some uncertainties about the risk/benefit of statin therapy in stroke etiology subtypes (cardioembolism, other or undetermined causes) may partially justify the underuse of statin in ischemic stroke. The differences that exist between current international guidelines may prevent a more widespread use of statin and should be clarified in a consensus. © 2014 Canavero et al.; licensee BioMed Central Ltd
- Published
- 2014
10. Connective tissue anomalies in patients with spontaneous cervical artery dissection
- Author
-
Giossi, A., primary, Ritelli, M., additional, Costa, P., additional, Morotti, A., additional, Poli, L., additional, Del Zotto, E., additional, Volonghi, I., additional, Chiarelli, N., additional, Gamba, M., additional, Bovi, P., additional, Tomelleri, G., additional, Carletti, M., additional, Checcarelli, N., additional, Meneghetti, G., additional, Morra, M., additional, Chinaglia, M., additional, De Giuli, V., additional, Colombi, M., additional, Padovani, A., additional, and Pezzini, A., additional
- Published
- 2014
- Full Text
- View/download PDF
11. Intra-arterial or intravenous thrombolysis for acute ischemic stroke? The SYNTHESIS pilot trial
- Author
-
Ciccone, A, Valvassori, L, Ponzio, M, Ballabio, E, Gasparotti, R, Sessa, M, Tiraboschi, P, Sterzi, R, Candelise, L, Del Zoppo, G, Sandercock, P, Cantisani, T, Coppola, C, Gatti, A, Guccione, A, Santilli, I, Jann, S., Protti, A., Rizzone, Mario Giorgio, Boccardi, E, Guidotti, M., Checcarelli, N, Muscia, F, Martegani, A, Magoni, M., Costa, A., Pavia, M, and Scomazzoni, F.
- Subjects
Male ,thrombolysis ,Time Factors ,ischemic stroke ,randomized controlled trial ,medicine.medical_treatment ,Pilot Projects ,law.invention ,Brain Ischemia ,Randomized controlled trial ,law ,Intra arterial ,Medicine ,Humans ,Infusions, Intra-Arterial ,Thrombolytic Therapy ,Thrombus ,Adverse effect ,Infusions, Intravenous ,Acute ischemic stroke ,Aged ,business.industry ,Pilot trial ,General Medicine ,Thrombolysis ,Middle Aged ,medicine.disease ,Stroke ,Survival Rate ,Treatment Outcome ,Anesthesia ,Tissue Plasminogen Activator ,Ischemic stroke ,Feasibility Studies ,Surgery ,Female ,Neurology (clinical) ,business ,Follow-Up Studies - Abstract
OBJECTIVE To assess the feasibility, safety and preliminary efficacy of intra-arterial thrombolysis (IAT) compared with standard intravenous thrombolysis (IVT) for acute ischemic stroke. METHODS Eligible patients with ischemic stroke, who were devoid of contraindications, started IVT within 3 h or IAT as soon as possible within 6 h. Patients were randomized within 3 h of onset to receive either intravenous alteplase, in accordance with the current European labeling, or up to 0.9 mg/kg intra-arterial alteplase (maximum 90 mg), over 60 min into the thrombus, if necessary with mechanical clot disruption and/or retrieval. The purpose of the study was to determine the proportion of favorable outcome at 90 days. Safety endpoints included symptomatic intracranial hemorrhage (SICH), death and other serious adverse events. RESULTS 54 patients (25 IAT) were enrolled. Median time from stroke onset to start to treatment was 3 h 15 min for IAT and 2 h 35 min for IVT (p
- Published
- 2009
12. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2
- Author
-
Sue, Cm, Karadimas, C, Checcarelli, N, Tanji, K, Papadopoulou, Lc, Pallotti, Francesco, Guo, Fl, Shanske, S, Hirano, M, DE VIVO DC, VAN COSTER, R, Kaplan, P, Bonilla, E, and Dimauro, S.
- Published
- 2000
13. Critically ill patients: immunological evidence of inflammation in muscle biopsy
- Author
-
Bazzi, P., Moggio, M., Prelle, A., Monica Sciacco, Messina, S., Barbieri, S., Tonin, P., Tomelleri, G., Battistel, A., Adobbati, L., Checcarelli, N., Veschi, G., and Scarlato, G.
- Subjects
Adult ,Male ,Histocytochemistry ,Biopsy ,Critical Illness ,Middle Aged ,Immunohistochemistry ,patients ,inflammatory process ,Microscopy, Electron ,Necrosis ,Muscular Diseases ,inflammation ,muscle necrosis ,Humans ,Female ,muscle biopsy ,Aged - Abstract
To verify whether muscle necrosis in critically ill patients could be due to an inflammatory process, we tested muscle biopsies from five intensive care patients with different inflammation-specific immunocytochemical markers (antibodies anti-class I major histocompatibility complex products (class I MHCP or HLA I), membrane attack complex (MAC), T lymphocytes helper-inducer (CD4), cytotoxic (CD8) and pan-B-lymphocytes).In three patients muscle biopsy showed class I MHCP positivity on the surface membrane of several groups of fibres, mainly perifascicular, and scattered microvascular deposits of MAC. In the other two patients muscle biopsy did not show class I MHCP and MAC positivity.Our results suggest that inflammation may be a component of muscle damage in some critically ill patients.
- Published
- 1999
14. Early ficolin-1 is a sensitive prognostic marker for functional outcome in ischemic stroke.
- Author
-
Zangari, R., Zanier, E. R., Torgano, G., Bersano, A., Beretta, S., Beghi, E., Casolla, B., Checcarelli, N., Lanfranconi, S., Maino, A., Mandelli, C., Micieli, G., Orzi, F., Picetti, E., Silvestrini, M., Stocchetti, N., Zecca, B., Garred, P., De Simon, M. G., and De Simoni, M G
- Subjects
LECTINS ,MOLECULAR carcinogenesis ,MANNOSE-binding lectins ,STROKE patients ,CEREBROVASCULAR disease ,STROKE diagnosis ,AGE distribution ,CEREBRAL ischemia ,COMPARATIVE studies ,LONGITUDINAL method ,RESEARCH methodology ,MEDICAL cooperation ,NONPARAMETRIC statistics ,PROGNOSIS ,PROTEINS ,REGRESSION analysis ,RESEARCH ,STROKE ,TIME ,EVALUATION research ,SEVERITY of illness index ,CASE-control method ,DISEASE complications - Abstract
Background: Several lines of evidence support the involvement of the lectin pathway of complement (LP) in the pathogenesis of acute ischemic stroke. The aim of this multicenter observational study was to assess the prognostic value of different circulating LP initiators in acute stroke.Methods: Plasma levels of the LP initiators ficolin-1, -2, and -3 and mannose-binding lectin (MBL) were measured in 80 stroke patients at 6 h only and in 85 patients at 48 h and later. Sixty-one age- and sex-matched healthy individuals served as controls. Stroke severity was measured on admission using the National Institutes of Health Stroke Scale (NIHSS). The outcome was measured at 90 days by the modified Rankin Scale (mRS).Results: Ficolin-1 was decreased in patients compared with controls measured at 6 h (median 0.13 vs 0.33 μg/ml, respectively, p < 0.0001). At 48 h, ficolin-1 was significantly higher (0.45 μg/ml, p < 0.0001) compared to the 6 h samples and to controls. Likewise, ficolin-2 was decreased at 6 h (2.70 vs 4.40 μg/ml, p < 0.0001) but not at 48 h. Ficolin-3 was decreased both at 6 and 48 h (17.3 and 18.23 vs 21.5 μg/ml, p < 0.001 and <0.05, respectively). For MBL no difference was detected between patients and controls or within patients at the different time points. In multivariate analysis, early ficolin-1 was independently associated with unfavorable mRS outcome (adjusted odds ratio (OR): 2.21, confidence interval (CI) 95 % 1.11-4.39, p = 0.023). Early ficolin-1 improved the discriminating ability of an outcome model including NIHSS and age (area under the curve (AUC) 0.95, CI 95 % 0.90-0.99, p = 0.0001).Conclusions: The ficolins are consumed within 6 h after stroke implicating activation of the LP. Early ficolin-1 is selectively related to 3-month unfavorable outcome. [ABSTRACT FROM AUTHOR]- Published
- 2016
- Full Text
- View/download PDF
15. Differential features of patients with mutations in two COX assembly genes,SURF-1 andSCO2
- Author
-
Sue, C. M., primary, Karadimas, C., additional, Checcarelli, N., additional, Tanji, K., additional, Papadopoulou, L. C., additional, Pallotti, F., additional, Guo, F. L., additional, Shanske, S., additional, Hirano, M., additional, De Vivo, D. C., additional, Van Coster, R., additional, Kaplan, P., additional, Bonilla, E., additional, and DiMauro, S., additional
- Published
- 2000
- Full Text
- View/download PDF
16. Muscle Mitochondria Investigation in Myotonic Dystrophy
- Author
-
Vita, G., primary, Toscano, A., additional, Prelle, A., additional, Bordoni, A., additional, Checcarelli, N., additional, Bresolin, N., additional, Baradello, A., additional, and Messina, C., additional
- Published
- 1993
- Full Text
- View/download PDF
17. Congenital myopathy associated with abnormal accumulation of desmin and dystrophin
- Author
-
Prelle, A., primary, Moggio, M., additional, Comi, G.P., additional, Gallanti, A., additional, Checcarelli, N., additional, Bresolin, N., additional, Ciscato, P., additional, Fortunato, F., additional, and Scarlato, G., additional
- Published
- 1992
- Full Text
- View/download PDF
18. Appearance and localization of dystrophin in normal human fetal muscle
- Author
-
Prelle, A., primary, Chianese, L., additional, Moggio, M., additional, Gallanti, A., additional, Sciacco, M., additional, Checcarelli, N., additional, Comi, G., additional, Scarpini, E., additional, Bonilla, E., additional, and Scarlato, G., additional
- Published
- 1991
- Full Text
- View/download PDF
19. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.
- Author
-
Sue, C. M., Karadimas, C., Checcarelli, N., Tanji, K., Papadopoulou, L. C., Pallotti, F., Guo, F. L., Shanske, S., Hirano, M., De Vivo, D. C., Van Coster, R., Kaplan, P., Bonilla, E., and DiMauro, S.
- Published
- 2000
- Full Text
- View/download PDF
20. Anionic phospholipids calcium binding sites in Duchenne and murine X-linked muscular dystrophy.
- Author
-
Moggio, Maurizio, Prelle, Alessandro, Fagiolari, Gigliola, Checcarelli, Nicoletta, Sciacco, Monica, Ciscato, Patrizia, Scarlato, Guglielmo, Moggio, M, Prelle, A, Fagiolari, G, Checcarelli, N, Sciacco, M, Ciscato, P, and Scarlato, G
- Published
- 1994
- Full Text
- View/download PDF
21. Mitochondrial DNA abnormalities and autistic spectrum disorders
- Author
-
Pons, R., Andreu, A.L., Checcarelli, N., Vila, M.R., Engelstad, K., Sue, C.M., Shungu, D., Haggerty, R., De Vivo, D.C., and DiMauro, S.
- Published
- 2004
- Full Text
- View/download PDF
22. Differential features of patients with mutations in two COX assembly genes, <TOGGLE>SURF-1</TOGGLE> and <TOGGLE>SCO2</TOGGLE>
- Author
-
Sue, C. M., Karadimas, C., Checcarelli, N., Tanji, K., Papadopoulou, L. C., Pallotti, F., Guo, F. L., Shanske, S., Hirano, M., Vivo, D. C. De, Coster, R. Van, Kaplan, P., Bonilla, E., and DiMauro, S.
- Abstract
We screened 41 patients with undiagnosed encephalomyopathies and cytochrome c oxidase (COX) deficiency for mutations in two COX assembly genes, SURF-1 and SCO2; 6 patients had mutations in SURF-1 and 3 had mutations in SCO2. All of the mutations in SURF-1 were small-scale rearrangements (deletions/insertions); 3 patients were homozygotes and the other 3 were compound heterozygotes. All patients with SCO2 mutations were compound heterozygotes for nonsense or missense mutations. All of the patients with mutations in SURF-1 had Leigh syndrome, whereas the 3 patients with SCO2 mutations had a combination of encephalopathy and hypertrophic cardiomyopathy, and the neuropathology did not show the typical features of Leigh syndrome. In patients with SCO2 mutations, onset was earlier and the clinical course and progression to death more rapid than in patients with SURF-1 mutations. In addition, biochemical and morphological studies showed that the COX deficiency was more severe in patients with SCO2 mutations. Immunohistochemical studies suggested that SURF-1 mutations result in similarly reduced levels of mitochondrial-encoded and nuclear-encoded COX subunits, whereas SCO2 mutations affected mitochondrial-encoded subunits to a greater degree. We conclude that patients with mutations in SURF-1 and SCO2 genes have distinct phenotypes despite the common biochemical defect of COX activity. Ann Neurol 2000;47:589595
- Published
- 2000
- Full Text
- View/download PDF
23. Differential features of patients with mutations in two COX assembly genes, SURF‐1and SCO2
- Author
-
Sue, C. M., Karadimas, C., Checcarelli, N., Tanji, K., Papadopoulou, L. C., Pallotti, F., Guo, F. L., Shanske, S., Hirano, M., De Vivo, D. C., Van Coster, R., Kaplan, P., Bonilla, E., and DiMauro, S.
- Abstract
We screened 41 patients with undiagnosed encephalomyopathies and cytochrome coxidase (COX) deficiency for mutations in two COX assembly genes, SURF‐1and SCO2;6 patients had mutations in SURF‐1and 3 had mutations in SCO2. All of the mutations in SURF‐1were small‐scale rearrangements (deletions/insertions); 3 patients were homozygotes and the other 3 were compound heterozygotes. All patients with SCO2mutations were compound heterozygotes for nonsense or missense mutations. All of the patients with mutations in SURF‐1had Leigh syndrome, whereas the 3 patients with SCO2mutations had a combination of encephalopathy and hypertrophic cardiomyopathy, and the neuropathology did not show the typical features of Leigh syndrome. In patients with SCO2mutations, onset was earlier and the clinical course and progression to death more rapid than in patients with SURF‐1mutations. In addition, biochemical and morphological studies showed that the COX deficiency was more severe in patients with SCO2mutations. Immunohistochemical studies suggested that SURF‐1mutations result in similarly reduced levels of mitochondrial‐encoded and nuclear‐encoded COX subunits, whereas SCO2mutations affected mitochondrial‐encoded subunits to a greater degree. We conclude that patients with mutations in SURF‐1and SCO2genes have distinct phenotypes despite the common biochemical defect of COX activity. Ann Neurol 2000;47:589–595
- Published
- 2000
- Full Text
- View/download PDF
24. A sporadic case of amyotrophic lateral sclerosis-parkinsonism
- Author
-
Silani, V., Brioschi, A., Bernasconi, S., Rango, M., Bozzali, M., Moggio, M., Prelle, A., Comi, G., Gellera, C., Cappellari, A., Ciammola, A., Massimiliano BRAGA, Pellegrini, G., Checcarelli, N., and Scarlato, G.
25. Efficacy of methylprednisolone megadoses in preventing exacerbations of relapsing remitting Multiple Sclerosis
- Author
-
Beretta, S., Ciccone, A., Pellegrini, G., Bianchi, M., Checcarelli, N., Garavaglia, P., Guidotti, M., Manfredi, L., Raudino, F., Battistel, A., Sampietro, A., Sormani, L., Suor, A., ELENA CATTANEO, Finis, A., Ghiringhelli, P., Molteni, L., Rizzini, C., Smacchetti, D., and Zuppa, N.
26. Multiple deletions of mitochondrial DNA in a patient with periodic attacks of paralysis
- Author
-
Prelle, A., Moggio, M., Checcarelli, N., and Comi, G.
- Published
- 1993
- Full Text
- View/download PDF
27. Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy
- Author
-
Checcarelli, N., Prelle, A., Moggio, M., and Comi, G.
- Published
- 1994
- Full Text
- View/download PDF
28. The role of clinical and neuroimaging features in the diagnosis of CADASIL
- Author
-
Bersano, Anna, Bedini, Gloria, Markus, Hugh Stephen, Vitali, Paolo, Colli-Tibaldi, Enrico, Taroni, Franco, Gellera, Cinzia, Baratta, Silvia, Mosca, Lorena, Carrera, Paola, Ferrari, Maurizio, Cereda, Cristina, Grieco, Gaetano, Lanfranconi, Silvia, Mazucchelli, Franca, Zarcone, Davide, De Lodovici, Maria Luisa, Bono, Giorgio, Boncoraglio, Giorgio Battista, Parati, Eugenio Agostino, Calloni, Maria Vittoria, Perrone, Patrizia, Bordo, Bianca Maria, Motto, Cristina, Agostoni, Elio, Pezzini, Alessandro, Padovani, Alessandro, Micieli, Giuseppe, Cavallini, Anna, Molini, Graziella, Sasanelli, Francesco, Sessa, Maria, Comi, Giancarlo, Checcarelli, Nicoletta, Carmerlingo, Massimo, Corato, Manuel, Marcheselli, Simona, Fusi, Laura, Grampa, Giampiero, Uccellini, Davide, Beretta, Simone, Ferrarese, Carlo, Incorvaia, Barbara, Tadeo, Carlo Sebastiano, Adobbati, Laura, Silani, Vincenzo, Faragò, Giuseppe, Trobia, Nadia, Grond-Ginsbach, Caspar, Candelise, Livia, Mazzucchelli, Franca, Guidotti, Mario, Riva, Maurizio, Iurlaro, Simona, Maria, Bianca Bordo, Braga, Massimiliano, Meola, Giovanni, Carpo, Marinella, Camerlingo, Massimo, Borutti, Giuseppina, Delodovici, Marialuisa, Verrengia, Elena Pinuccia, Tancredi, Lucia, Terruzzi, Alessandro, Magoni, Mauro, Del Zotto, Elisabetta, Bassi, Pietro, Lattuada, Patrizia, Ballabio, Elena, Gambaro, Paola, Lanfranconi, Sivia, Corrà, Barbara, Canavero, Isabella, Arbustini, Eloisa, Grasso, Maurizia, Comi, Giacomo Pietro, Corti, Stefania, Ronchi, Dario, Merlini, Giampaolo, Obici, Laura, Bassi, Maria Teresa, Tagliavini, Fabrizio, Ginsbach, Caspar Grond, Bersano, Anna, Bedini, Gloria, Markus, Hugh Stephen, Vitali, Paolo, Colli-Tibaldi, Enrico, Taroni, Franco, Gellera, Cinzia, Baratta, Silvia, Mosca, Lorena, Carrera, Paola, Ferrari, Maurizio, Cereda, Cristina, Grieco, Gaetano, Lanfranconi, Silvia, Mazucchelli, Franca, Zarcone, Davide, De Lodovici, Maria Luisa, Bono, Giorgio, Boncoraglio, Giorgio Battista, Parati, Eugenio Agostino, Calloni, Maria Vittoria, Perrone, Patrizia, Bordo, Bianca Maria, Motto, Cristina, Agostoni, Elio, Pezzini, Alessandro, Padovani, Alessandro, Micieli, Giuseppe, Cavallini, Anna, Molini, Graziella, Sasanelli, Francesco, Sessa, Maria, Comi, Giancarlo, Checcarelli, Nicoletta, Carmerlingo, Massimo, Corato, Manuel, Marcheselli, Simona, Fusi, Laura, Grampa, Giampiero, Uccellini, Davide, Beretta, Simone, Ferrarese, Carlo, Incorvaia, Barbara, Tadeo, Carlo Sebastiano, Adobbati, Laura, Silani, Vincenzo, Faragò, Giuseppe, Trobia, Nadia, Grond-Ginsbach, Caspar, Candelise, Livia, Mazzucchelli, Franca, Guidotti, Mario, Riva, Maurizio, Iurlaro, Simona, Maria, Bianca Bordo, Braga, Massimiliano, Meola, Giovanni, Carpo, Marinella, Camerlingo, Massimo, Borutti, Giuseppina, Delodovici, Marialuisa, Verrengia, Elena Pinuccia, Tancredi, Lucia, Terruzzi, Alessandro, Magoni, Mauro, Del Zotto, Elisabetta, Bassi, Pietro, Lattuada, Patrizia, Ballabio, Elena, Gambaro, Paola, Lanfranconi, Sivia, Corrà, Barbara, Canavero, Isabella, Arbustini, Eloisa, Grasso, Maurizia, Comi, Giacomo Pietro, Corti, Stefania, Ronchi, Dario, Merlini, Giampaolo, Obici, Laura, Bassi, Maria Teresa, Tagliavini, Fabrizio, Ginsbach, Caspar Grond, Bersano, A, Bedini, G, Markus, H, Vitali, P, Colli-Tibaldi, E, Taroni, F, Gellera, C, Baratta, S, Mosca, L, Carrera, P, Ferrari, M, Cereda, C, Grieco, G, Lanfranconi, S, Mazucchelli, F, Zarcone, D, De Lodovici, M, Bono, G, Boncoraglio, G, Parati, E, Calloni, M, Perrone, P, Bordo, B, Motto, C, Agostoni, E, Pezzini, A, Padovani, A, Micieli, G, Cavallini, A, Molini, G, Sasanelli, F, Sessa, M, Comi, G, Checcarelli, N, Carmerlingo, M, Corato, M, Marcheselli, S, Fusi, L, Grampa, G, Uccellini, D, Beretta, S, Ferrarese, C, Incorvaia, B, Tadeo, C, Adobbati, L, Silani, V, Faragò, G, Trobia, N, Grond-Ginsbach, C, Candelise, L, Mazzucchelli, F, Guidotti, M, Riva, M, Iurlaro, S, Maria, B, Braga, M, Meola, G, Carpo, M, Camerlingo, M, Borutti, G, Delodovici, M, Verrengia, E, Tancredi, L, Terruzzi, A, Magoni, M, Del Zotto, E, Bassi, P, Lattuada, P, Ballabio, E, Gambaro, P, Corrà, B, Canavero, I, Arbustini, E, Grasso, M, Corti, S, Ronchi, D, Merlini, G, Obici, L, Bassi, M, Tagliavini, F, Ginsbach, C, Markus, Hugh [0000-0002-9794-5996], and Apollo - University of Cambridge Repository
- Subjects
Adult ,Male ,Brain hemorrhage ,medicine.medical_specialty ,Neurology ,White matter lesion ,Monogenic disorder ,CADASIL ,Neuroimaging ,Gene mutation ,030218 nuclear medicine & medical imaging ,03 medical and health sciences ,0302 clinical medicine ,Diagnosis ,Medicine ,Dementia ,Humans ,cardiovascular diseases ,Prospective Studies ,Receptor, Notch3 ,Neuroradiology ,Aged ,Cerebral Hemorrhage ,Stroke genetics ,Monogenic disorders ,business.industry ,Brain ,Middle Aged ,medicine.disease ,Magnetic Resonance Imaging ,White Matter ,Prospective Studie ,Ischemic Attack, Transient ,Stroke genetic ,Stroke, Lacunar ,Female ,Neurology (clinical) ,Atrophy ,business ,Neuroscience ,NOTCH3 gene ,030217 neurology & neurosurgery ,Diagnosi ,Human - Abstract
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL. METHODS: Patients with lacunar stroke or TIA were included in the present study. For each patient, demographic and clinical data were collected. MRI images were centrally analysed for the presence of lacunar infarcts, microbleeds, temporal lobe involvement, global atrophy and white matter hyperintensities. RESULTS: 128 patients (mean age 56.3 ± 12.4 years) were included. A NOTCH3 mutation was found in 12.5% of them. A family history of stroke, the presence of dementia and external capsule lesions on MRI were the only features significantly associated with the diagnosis of CADASIL. Although thalamic, temporal pole gliosis and severe white matter hyperintensities were less specific for CADASIL diagnosis, the combination of a number of these factors together with familial history for stroke result in a higher positive predictive value and specificity. CONCLUSIONS: A careful familial history collection and neuroradiological assessment can identify patients in whom NOTCH3 genetic testing has a higher yield., The Lombardia GENS project has received funding from the Regione Lombardia Government as a Research Independent Project (DGR n°VIII/006128-12/12/2007). Lombardia GENS is an investigator-driven, academic, non-profit consortium and is publicly funded. Hugh Markus is supported by an NIHR Senior Investigator award and his work is supported by the Cambridge University Hospitals NIHR Biomedical Research Centre
- Published
- 2018
29. Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry
- Author
-
Giorgio Bono, Eloisa Arbustini, Patrizia Perrone, Silvia Baratta, Graziella Molini, Elena Pinuccia Verrengia, Massimiliano Braga, Manuel Corato, Erminio Capitani, Gaetano S. Grieco, Pierluigi Baron, Giampaolo Merlini, Simona Marcheselli, Giuseppe Micieli, Nadia Trobia, Davide Uccellini, Anna Cavallini, Elio Agostoni, Mario Guidotti, Carlo Ferrarese, Alessandro Padovani, Laura Fusi, Caspar Grond-Ginsbach, Giacomo P. Comi, Silvia Lanfranconi, Marco Arnaboldi, Barbara Incorvaia, Livia Candelise, Maria Teresa Bassi, Cristina Motto, Paola Carrera, Lorena Mosca, Nicoletta Checcarelli, Lucia Tancredi, Alessando Pezzini, Hugh S. Markus, Laura Obici, Giancarlo Comi, Bianca Maria Bordo, Maria Luisa De Lodovici, Giorgio B. Boncoraglio, Davide Zarcone, Maurizia Grasso, Dario Ronchi, Maria Sessa, Francesca Mazucchelli, Maria Vittoria Calloni, Stefania Corti, Francesco Sasanelli, Paolo Vitali, Giampiero Grampa, C. Gellera, Maurizio Ferrari, Cristina Cereda, Antonio Colombo, Silvana Penco, Anna Bersano, Franco Taroni, Simone Beretta, Carlo Sebastiano Tadeo, Silvana Quaglini, Eugenio Parati, Bersano, A, Markus, H, Quaglini, S, Arbustini, E, Lanfranconi, S, Micieli, G, Boncoraglio, G, Taroni, F, Gellera, C, Baratta, S, Penco, S, Mosca, L, Grasso, M, Carrera, P, Ferrari, M, Cereda, C, Grieco, G, Corti, S, Ronchi, D, Bassi, M, Obici, L, Parati, E, Pezzini, A, De Lodovici, M, Verrengia, E, Bono, G, Mazucchelli, F, Zarcone, D, Calloni, M, Perrone, P, Bordo, B, Colombo, A, Padovani, A, Cavallini, A, Beretta, S, Ferrarese, C, Motto, C, Agostoni, E, Molini, G, Sasanelli, F, Corato, M, Marcheselli, S, Sessa, M, Comi, G, Checcarelli, N, Guidotti, M, Uccellini, D, Capitani, E, Tancredi, L, Arnaboldi, M, Incorvaia, B, Tadeo, C, Fusi, L, Grampa, G, Merlini, G, Trobia, N, Braga, M, Vitali, P, Baron, P, Grond Ginsbach, C, Candelise, L, Bersano, Anna, Markus, Hugh Stephen, Quaglini, Silvana, Arbustini, Eloisa, Lanfranconi, Silvia, Micieli, Giuseppe, Boncoraglio, Giorgio B., Taroni, Franco, Gellera, Cinzia, Baratta, Silvia, Penco, Silvana, Mosca, Lorena, Grasso, Maurizia, Carrera, Paola, Ferrari, Maurizio, Cereda, Cristina, Grieco, Gaetano, Corti, Stefania, Ronchi, Dario, Bassi, Maria Teresa, Obici, Laura, Parati, Eugenio A., Pezzini, Alessando, De Lodovici, Maria Luisa, Verrengia, Elena P., Bono, Giorgio, Mazucchelli, Francesca, Zarcone, Davide, Calloni, Maria Vittoria, Perrone, Patrizia, Bordo, Bianca Maria, Colombo, Antonio, Padovani, Alessandro, Cavallini, Anna, Beretta, Simone, Ferrarese, Carlo, Motto, Cristina, Agostoni, Elio, Molini, Graziella, Sasanelli, Francesco, Corato, Manuel, Marcheselli, Simona, Sessa, Maria, Comi, Giancarlo, Checcarelli, Nicoletta, Guidotti, Mario, Uccellini, Davide, Capitani, Erminio, Tancredi, Lucia, Arnaboldi, Marco, Incorvaia, Barbara, Tadeo, Carlo Sebastiano, Fusi, Laura, Grampa, Giampiero, Merlini, Giampaolo, Trobia, Nadia, Comi, Giacomo Pietro, Braga, Massimiliano, Vitali, Paolo, Baron, Pierluigi, Grond Ginsbach, Caspar, and Candelise, Livia
- Subjects
Adult ,Male ,Mitochondrial encephalomyopathy ,Pediatrics ,medicine.medical_specialty ,Pathology ,DNA Mutational Analysis ,CADASIL ,Disease ,030204 cardiovascular system & hematology ,MELAS syndrome ,Leukoencephalopathy ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,genetics ,Genetic Testing ,Registries ,Stroke ,cerebral amyloid angiopathy ,Aged ,Genetic testing ,Advanced and Specialized Nursing ,Fabry disease ,medicine.diagnostic_test ,business.industry ,cerebral amyloid angiopathy, familial ,Marfan syndrome ,stroke ,Neurology (clinical) ,Cardiology and Cardiovascular Medicine ,familial ,Middle Aged ,medicine.disease ,Mutation ,Female ,genetic ,business ,030217 neurology & neurosurgery - Abstract
Background and Purpose— Lombardia GENS is a multicentre prospective study aimed at diagnosing 5 single-gene disorders associated with stroke (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry disease, MELAS [mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes], hereditary cerebral amyloid angiopathy, and Marfan syndrome) by applying diagnostic algorithms specific for each clinically suspected disease Methods— We enrolled a consecutive series of patients with ischemic or hemorrhagic stroke or transient ischemic attack admitted in stroke units in the Lombardia region participating in the project. Patients were defined as probable when presenting with stroke or transient ischemic attack of unknown etiopathogenic causes, or in the presence of Results— In 209 patients (57.4±14.7 years), the application of the disease-specific algorithm identified 227 patients with possible monogenic disease. Genetic testing identified pathogenic mutations in 7% of these cases. Familial history of stroke was the only significant specific feature that distinguished mutated patients from nonmutated ones. The presence of cerebrovascular risk factors did not exclude a genetic disease. Conclusions— In patients prescreened using a clinical algorithm for monogenic disorders, we identified monogenic causes of events in 7% of patients in comparison to the 1% to 5% prevalence reported in previous series.
- Published
- 2016
30. Subclinical Vascular Brain Lesions in Young Adults With Acute Ischemic Stroke.
- Author
-
De Giuli V, Grassi M, Besana M, Zedde M, Zini A, Lodigiani C, Marcheselli S, Cavallini A, Micieli G, Rasura M, DeLodovici ML, Tomelleri G, Checcarelli N, Chiti A, Giorli E, Del Sette M, Tancredi L, Toriello A, Braga M, Morotti A, Pezzini D, Locatelli M, Mazzoleni V, Bonacina S, Gamba M, Magoni M, Patella R, Spalloni A, Maria Simone A, Pascarella R, Beretta S, Padovani A, Gasparotti R, and Pezzini A
- Subjects
- Adult, Aged, Brain diagnostic imaging, Brain pathology, Humans, Magnetic Resonance Imaging, Male, Young Adult, Brain Ischemia complications, Cerebral Small Vessel Diseases complications, Ischemic Stroke, Stroke complications
- Abstract
Background: Subclinical vascular brain lesions are highly prevalent in elderly patients with stroke. Little is known about predisposing factors and their impact on long-term outcome of patients with stroke at a young age., Methods: We quantified magnetic resonance-defined subclinical vascular brain lesions, including lacunes and white matter hyperintensities, perivascular spaces and cerebral microbleeds, and assessed total small-vessel disease (SVD) score in patients with first-ever acute ischemic stroke aged 18 to 45 years, and followed them up, as part of the multicentre Italian Project on Stroke in Young Adults. The primary end point was a composite of ischemic stroke, transient ischemic attack, myocardial infarction, or other arterial events. We assessed the predictive accuracy of magnetic resonance features and whether the addition of these markers improves outcome prediction over a validated clinical tool, such as the Italian Project on Stroke in Young Adults score., Results: Among 591 patients (males, 53.8%; mean age, 37.5±6.4 years), 117 (19.8%) had subclinical vascular brain lesions. Family history of stroke was associated with lacunes (odds ratio, 2.24 [95% CI, 1.30-3.84]) and total SVD score (odds ratio, 2.06 [95% CI, 1.20-3.53] for score≥1), hypertension with white matter hyperintensities (odds ratio, 2.29 [95% CI, 1.22-4.32]). After a median follow-up of 36.0 months (25th-75th percentile, 38.0), lacunes and total SVD score were associated with primary end point (hazard ratio, 2.13 [95% CI, 1.17-3.90] for lacunes; hazard ratio, 2.17 [95% CI, 1.20-3.90] for total SVD score ≥1), and the secondary end point brain ischemia (hazard ratio, 2.55 [95% CI, 1.36-4.75] for lacunes; hazard ratio, 2.61 [95% CI, 1.42-4.80] for total SVD score ≥1). The predictive performances of the models, including magnetic resonance features were comparable to those of the random model. Adding individual magnetic resonance features to the Italian Project on Stroke in Young Adults score did not improve model prediction., Conclusions: Subclinical vascular brain lesions affect ≈2 in 10 young adults with ischemic stroke. Although lacunes and total SVD score are associated with thrombotic recurrence, they do not improve accuracy of outcome prediction over validated clinical predictors.
- Published
- 2022
- Full Text
- View/download PDF
31. Migraine and Cryptogenic Ischemic Stroke.
- Author
-
Mazzoleni V, Grassi M, Lodigiani C, Rasura M, Zedde M, Gandolfo C, Zini A, DeLodovici ML, Paciaroni M, Del Sette M, Toriello A, Musolino R, Calabrò RS, Bovi P, Giossi A, Adami A, Silvestrelli G, Cavallini A, Marcheselli S, Bonifati DM, Checcarelli N, Tancredi L, Chiti A, Giorli E, Pezzini D, Locatelli M, Bonacina S, Giacalone G, Volta GD, Magoni M, Cerrato P, Bignamini V, Micieli G, Melis M, Sanguigni S, Braga M, Padovani A, and Pezzini A
- Subjects
- Humans, Young Adult, Brain Ischemia complications, Foramen Ovale, Patent, Ischemic Stroke, Migraine Disorders, Stroke epidemiology, Stroke etiology
- Published
- 2021
- Full Text
- View/download PDF
32. History of Migraine and Volume of Brain Infarcts: The Italian Project on Stroke at Young Age (IPSYS).
- Author
-
De Giuli V, Besana M, Grassi M, Zedde M, Zini A, Lodigiani C, Marcheselli S, Cavallini A, Micieli G, Rasura M, DeLodovici ML, Tomelleri G, Checcarelli N, Chiti A, Giorli E, Sette MD, Tancredi L, Toriello A, Braga M, Morotti A, Poli L, Caria F, Gamba M, Patella R, Spalloni A, Simone AM, Pascarella R, Beretta S, Fainardi E, Padovani A, Gasparotti R, and Pezzini A
- Abstract
Background and Purpose: Migraine has been shown to increase cerebral excitability, promote rapid infarct expansion into tissue with perfusion deficits, and result in larger infarcts in animal models of focal cerebral ischemia. Whether these effects occur in humans has never been properly investigated., Methods: In a series of consecutive patients with acute ischemic stroke, enrolled in the setting of the Italian Project on Stroke at Young Age, we assessed acute as well as chronic infarct volumes by volumetric magnetic resonance imaging, and compared these among different subgroups identified by migraine status., Results: A cohort of 591 patients (male, 53.8%; mean age, 37.5±6.4 years) qualified for the analysis. Migraineurs had larger acute infarcts than non-migraineurs (median, 5.9 cm3 [interquartile range (IQR), 1.4 to 15.5] vs. 2.6 cm3 [IQR, 0.8 to 10.1], P<0.001), and the largest volumes were observed in patients with migraine with aura (median, 9.0 cm3 [IQR, 3.4 to 16.6]). In a linear regression model, migraine was an independent predictor of increased log (acute infarct volumes) (median ratio [MR], 1.64; 95% confidence interval [CI], 1.22 to 2.20), an effect that was more prominent for migraine with aura (MR, 2.92; 95% CI, 1.88 to 4.54)., Conclusion: s These findings reinforce the experimental observation of larger acute cerebral infarcts in migraineurs, extend animal data to human disease, and support the hypothesis of increased vulnerability to ischemic brain injury in people suffering migraine.
- Published
- 2019
- Full Text
- View/download PDF
33. Efficiency in stroke management from acute care to rehabilitation: bedside versus telemedicine consultation.
- Author
-
Molteni F, Gaffuri M, Guidotti M, Checcarelli N, Colombo M, Lorenzon C, Giovanzana C, Specchia A, and Cannaviello G
- Subjects
- Aged, Efficiency, Female, Humans, Italy, Length of Stay statistics & numerical data, Male, Patient Discharge statistics & numerical data, Retrospective Studies, Waiting Lists, Workflow, Process Assessment, Health Care, Stroke Rehabilitation methods, Telemedicine
- Abstract
Background: Telemedicine has changed over the last years, becoming an integrated service used in various clinical settings such as stroke units or radiological departments, but also as an important tool for home rehabilitation. Assessment of usefulness and efficiency of performing teleconsultations to manage stroke from acute care hospital to tertiary care rehabilitation hospital has not been referred by scientific literature., Aim: This article analyzes the process of discharging stroke patients from acute care to intensive rehabilitation, based on the comparison between conventional bedside patient evaluations and teleconsultation patient evaluations, to assess efficiency and efficacy of two different discharging workflows., Design: Retrospective study., Setting: Consultations were carried out between the Acute Care Stroke Unit and the Stroke Rehabilitation Unit of Valduce Hospital System., Population: The study included 257 stroke patients who underwent physiatric consultation during 2 years considered in this study and 101 patients were considered eligible for intensive rehabilitation treatment after a physiatric consultation., Methods: We compared the efficiency and efficacy of the dismission workflow of bedside medical consultation and teleconsultation over a 12 months period. We considered the following outcome measures: time elapsed between consultation and Rehabilitation Unit admission, number of re-admissions to acute care hospital, complications occurred during rehabilitation, length of stay in the rehabilitation hospital and clinical outcomes of rehabilitation process., Results: We observed a significant reduction in waiting time from the acute event to the admission in rehabilitation department, an improvement in efficiency of the admission process itself in the Rehabilitation Unit and a reduction of clinical complications occurred during rehabilitation period, without changes in rehabilitative outcomes., Conclusions: It has been highlighted that the use of telemedicine to perform medical consultation as a tool to evaluate patients eligible for tertiary care rehabilitation hospital admission from Stroke Care Unit is feasible and more efficient when compared with conventional bedside consultations., Clinical Rehabilitation Impact: This study reveals teleconsultations as a useful tool to improve efficiency of the stroke management workflow.
- Published
- 2019
- Full Text
- View/download PDF
34. The role of clinical and neuroimaging features in the diagnosis of CADASIL.
- Author
-
Bersano A, Bedini G, Markus HS, Vitali P, Colli-Tibaldi E, Taroni F, Gellera C, Baratta S, Mosca L, Carrera P, Ferrari M, Cereda C, Grieco G, Lanfranconi S, Mazucchelli F, Zarcone D, De Lodovici ML, Bono G, Boncoraglio GB, Parati EA, Calloni MV, Perrone P, Bordo BM, Motto C, Agostoni E, Pezzini A, Padovani A, Micieli G, Cavallini A, Molini G, Sasanelli F, Sessa M, Comi G, Checcarelli N, Carmerlingo M, Corato M, Marcheselli S, Fusi L, Grampa G, Uccellini D, Beretta S, Ferrarese C, Incorvaia B, Tadeo CS, Adobbati L, Silani V, Faragò G, Trobia N, Grond-Ginsbach C, and Candelise L
- Subjects
- Adult, Aged, Atrophy, CADASIL genetics, CADASIL physiopathology, Cerebral Hemorrhage diagnosis, Cerebral Hemorrhage genetics, Cerebral Hemorrhage physiopathology, Female, Humans, Ischemic Attack, Transient diagnosis, Ischemic Attack, Transient genetics, Ischemic Attack, Transient physiopathology, Magnetic Resonance Imaging, Male, Middle Aged, Prospective Studies, Stroke, Lacunar diagnosis, Stroke, Lacunar genetics, Stroke, Lacunar physiopathology, White Matter diagnostic imaging, Brain diagnostic imaging, CADASIL diagnosis, Neuroimaging, Receptor, Notch3 genetics
- Abstract
Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL., Methods: Patients with lacunar stroke or TIA were included in the present study. For each patient, demographic and clinical data were collected. MRI images were centrally analysed for the presence of lacunar infarcts, microbleeds, temporal lobe involvement, global atrophy and white matter hyperintensities., Results: 128 patients (mean age 56.3 ± 12.4 years) were included. A NOTCH3 mutation was found in 12.5% of them. A family history of stroke, the presence of dementia and external capsule lesions on MRI were the only features significantly associated with the diagnosis of CADASIL. Although thalamic, temporal pole gliosis and severe white matter hyperintensities were less specific for CADASIL diagnosis, the combination of a number of these factors together with familial history for stroke result in a higher positive predictive value and specificity., Conclusions: A careful familial history collection and neuroradiological assessment can identify patients in whom NOTCH3 genetic testing has a higher yield.
- Published
- 2018
- Full Text
- View/download PDF
35. Association Between Migraine and Cervical Artery Dissection: The Italian Project on Stroke in Young Adults.
- Author
-
De Giuli V, Grassi M, Lodigiani C, Patella R, Zedde M, Gandolfo C, Zini A, DeLodovici ML, Paciaroni M, Del Sette M, Azzini C, Toriello A, Musolino R, Calabrò RS, Bovi P, Sessa M, Adami A, Silvestrelli G, Cavallini A, Marcheselli S, Bonifati DM, Checcarelli N, Tancredi L, Chiti A, Lotti EM, Del Zotto E, Tomelleri G, Spalloni A, Giorli E, Costa P, Poli L, Morotti A, Caria F, Lanari A, Giacalone G, Ferrazzi P, Giossi A, Piras V, Massucco D, D'Amore C, Di Lisi F, Casetta I, Cucurachi L, Cotroneo M, De Vito A, Coloberti E, Rasura M, Simone AM, Gamba M, Cerrato P, Micieli G, Malferrari G, Melis M, Iacoviello L, Padovani A, and Pezzini A
- Subjects
- Adolescent, Adult, Age Factors, Case-Control Studies, Female, Humans, Italy epidemiology, Male, Middle Aged, Prospective Studies, Sex Factors, Young Adult, Brain Ischemia epidemiology, Intracranial Arterial Diseases epidemiology, Migraine with Aura epidemiology, Migraine without Aura epidemiology, Registries, Stroke epidemiology
- Abstract
Importance: Although sparse observational studies have suggested a link between migraine and cervical artery dissection (CEAD), any association between the 2 disorders is still unconfirmed. This lack of a definitive conclusion might have implications in understanding the pathogenesis of both conditions and the complex relationship between migraine and ischemic stroke (IS)., Objective: To investigate whether a history of migraine and its subtypes is associated with the occurrence of CEAD., Design, Setting, and Participants: A prospective cohort study of consecutive patients aged 18 to 45 years with first-ever acute ischemic stroke enrolled in the multicenter Italian Project on Stroke in Young Adults was conducted between January 1, 2000, and June 30, 2015. In a case-control design, the study assessed whether the frequency of migraine and its subtypes (presence or absence of an aura) differs between patients whose IS was due to CEAD (CEAD IS) and those whose IS was due to a cause other than CEAD (non-CEAD IS) and compared the characteristics of patients with CEAD IS with and without migraine., Main Outcomes and Measures: Frequency of migraine and its subtypes in patients with CEAD IS vs non-CEAD IS., Results: Of the 2485 patients (mean [SD] age, 36.8 [7.1] years; women, 1163 [46.8%]) included in the registry, 334 (13.4%) had CEAD IS and 2151 (86.6%) had non-CEAD IS. Migraine was more common in the CEAD IS group (103 [30.8%] vs 525 [24.4%], P = .01), and the difference was mainly due to migraine without aura (80 [24.0%] vs 335 [15.6%], P < .001). Compared with migraine with aura, migraine without aura was independently associated with CEAD IS (OR, 1.74; 95% CI, 1.30-2.33). The strength of this association was higher in men (OR, 1.99; 95% CI, 1.31-3.04) and in patients 39.0 years or younger (OR, 1.82; 95% CI, 1.22-2.71). The risk factor profile was similar in migrainous and non-migrainous patients with CEAD IS (eg, hypertension, 20 [19.4%] vs 57 [24.7%], P = .29; diabetes, 1 [1.0%] vs 3 [1.3%], P > .99)., Conclusions and Relevance: In patients with IS aged 18 to 45 years, migraine, especially migraine without aura, is consistently associated with CEAD. This finding suggests common features and warrants further analyses to elucidate the underlying biologic mechanisms.
- Published
- 2017
- Full Text
- View/download PDF
36. Propensity Score-Based Analysis of Percutaneous Closure Versus Medical Therapy in Patients With Cryptogenic Stroke and Patent Foramen Ovale: The IPSYS Registry (Italian Project on Stroke in Young Adults).
- Author
-
Pezzini A, Grassi M, Lodigiani C, Patella R, Gandolfo C, Zini A, DeLodovici ML, Paciaroni M, Del Sette M, Toriello A, Musolino R, Calabrò RS, Bovi P, Adami A, Silvestrelli G, Sessa M, Cavallini A, Marcheselli S, Marco Bonifati D, Checcarelli N, Tancredi L, Chiti A, Del Zotto E, Tomelleri G, Spalloni A, Giorli E, Costa P, Giacalone G, Ferrazzi P, Poli L, Morotti A, Piras V, Rasura M, Simone AM, Gamba M, Cerrato P, Zedde ML, Micieli G, Melis M, Massucco D, Guido D, De Giuli V, Bonaiti S, D'Amore C, La Starza S, Iacoviello L, and Padovani A
- Subjects
- Adolescent, Adult, Age Factors, Brain Ischemia diagnosis, Brain Ischemia etiology, Cardiac Catheterization adverse effects, Cardiac Catheterization instrumentation, Cardiovascular Agents adverse effects, Chi-Square Distribution, Embolism, Paradoxical diagnosis, Embolism, Paradoxical etiology, Female, Foramen Ovale, Patent complications, Foramen Ovale, Patent diagnostic imaging, Humans, Intracranial Embolism diagnosis, Intracranial Embolism etiology, Italy, Male, Middle Aged, Propensity Score, Proportional Hazards Models, Registries, Risk Factors, Secondary Prevention instrumentation, Stroke diagnosis, Stroke etiology, Time Factors, Treatment Outcome, Young Adult, Brain Ischemia prevention & control, Cardiac Catheterization methods, Cardiovascular Agents therapeutic use, Embolism, Paradoxical prevention & control, Foramen Ovale, Patent therapy, Intracranial Embolism prevention & control, Secondary Prevention methods, Stroke prevention & control
- Abstract
Background: We sought to compare the benefit of percutaneous closure to that of medical therapy alone for the secondary prevention of embolism in patients with patent foramen ovale (PFO) and otherwise unexplained ischemic stroke, in a propensity scored study., Methods and Results: Between 2000 and 2012, we selected consecutive first-ever ischemic stroke patients aged 18 to 45 years with PFO and no other cause of brain ischemia, as part of the IPSYS registry (Italian Project on Stroke in Young Adults), who underwent either percutaneous PFO closure or medical therapy for comparative analysis. Primary end point was a composite of ischemic stroke, transient ischemic attack, or peripheral embolism. Secondary end point was brain ischemia. Five hundred and twenty-one patients qualified for the analysis. The primary end point occurred in 15 patients treated with percutaneous PFO closure (7.3%) versus 33 patients medically treated (10.5%; hazard ratio, 0.72; 95% confidence interval, 0.39-1.32; P=0.285). The rates of the secondary end point brain ischemia were also similar in the 2 treatment groups (6.3% in the PFO closure group versus 10.2% in the medically treated group; hazard ratio, 0.64; 95% confidence interval, 0.33-1.21; P=0.168). Closure provided a benefit in patients aged 18 to 36 years (hazard ratio, 0.19; 95% confidence interval, 0.04-0.81; P=0.026) and in those with a substantial right-to-left shunt size (hazard ratio, 0.19; 95% confidence interval, 0.05-0.68; P=0.011)., Conclusions: PFO closure seems as effective as medical therapy for secondary prevention of cryptogenic ischemic stroke. Whether device treatment might be more effective in selected cases, such as in patients younger than 37 years and in those with a substantial right-to-left shunt size, deserves further investigation., (© 2016 American Heart Association, Inc.)
- Published
- 2016
- Full Text
- View/download PDF
37. Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.
- Author
-
Bersano A, Markus HS, Quaglini S, Arbustini E, Lanfranconi S, Micieli G, Boncoraglio GB, Taroni F, Gellera C, Baratta S, Penco S, Mosca L, Grasso M, Carrera P, Ferrari M, Cereda C, Grieco G, Corti S, Ronchi D, Bassi MT, Obici L, Parati EA, Pezzini A, De Lodovici ML, Verrengia EP, Bono G, Mazucchelli F, Zarcone D, Calloni MV, Perrone P, Bordo BM, Colombo A, Padovani A, Cavallini A, Beretta S, Ferrarese C, Motto C, Agostoni E, Molini G, Sasanelli F, Corato M, Marcheselli S, Sessa M, Comi G, Checcarelli N, Guidotti M, Uccellini D, Capitani E, Tancredi L, Arnaboldi M, Incorvaia B, Tadeo CS, Fusi L, Grampa G, Merlini G, Trobia N, Comi GP, Braga M, Vitali P, Baron P, Grond-Ginsbach C, and Candelise L
- Subjects
- Adult, Aged, CADASIL complications, Cerebral Amyloid Angiopathy, Familial complications, DNA Mutational Analysis, Fabry Disease complications, Female, Humans, MELAS Syndrome complications, Male, Marfan Syndrome complications, Middle Aged, Mutation, Registries, Stroke etiology, CADASIL genetics, Cerebral Amyloid Angiopathy, Familial genetics, Fabry Disease genetics, Genetic Testing, MELAS Syndrome genetics, Marfan Syndrome genetics, Stroke genetics
- Abstract
Background and Purpose: Lombardia GENS is a multicentre prospective study aimed at diagnosing 5 single-gene disorders associated with stroke (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry disease, MELAS [mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes], hereditary cerebral amyloid angiopathy, and Marfan syndrome) by applying diagnostic algorithms specific for each clinically suspected disease, Methods: We enrolled a consecutive series of patients with ischemic or hemorrhagic stroke or transient ischemic attack admitted in stroke units in the Lombardia region participating in the project. Patients were defined as probable when presenting with stroke or transient ischemic attack of unknown etiopathogenic causes, or in the presence of <3 conventional vascular risk factors or young age at onset, or positive familial history or of specific clinical features. Patients fulfilling diagnostic algorithms specific for each monogenic disease (suspected) were referred for genetic analysis., Results: In 209 patients (57.4±14.7 years), the application of the disease-specific algorithm identified 227 patients with possible monogenic disease. Genetic testing identified pathogenic mutations in 7% of these cases. Familial history of stroke was the only significant specific feature that distinguished mutated patients from nonmutated ones. The presence of cerebrovascular risk factors did not exclude a genetic disease., Conclusions: In patients prescreened using a clinical algorithm for monogenic disorders, we identified monogenic causes of events in 7% of patients in comparison to the 1% to 5% prevalence reported in previous series., (© 2016 American Heart Association, Inc.)
- Published
- 2016
- Full Text
- View/download PDF
38. Determinants of premature familial arterial thrombosis in patients with juvenile ischaemic stroke. The Italian Project on Stroke in Young Adults (IPSYS).
- Author
-
Pezzini A, Grassi M, Lodigiani C, Patella R, Gandolfo C, Zini A, DeLodovici ML, Paciaroni M, Del Sette M, Toriello A, Musolino R, Calabrò RS, Bovi P, Adami A, Silvestrelli G, Sessa M, Cavallini A, Marcheselli S, Bonifati DM, Checcarelli N, Tancredi L, Chiti A, Del Zotto E, Spalloni A, Costa P, Giacalone G, Ferrazzi P, Poli L, Morotti A, Rasura M, Simone AM, Gamba M, Cerrato P, Micieli G, Melis M, Massucco D, De Giuli V, Pepe D, Iacoviello L, and Padovani A
- Subjects
- Adolescent, Adult, Age of Onset, Antibodies, Antiphospholipid blood, Arterial Occlusive Diseases complications, Arterial Occlusive Diseases genetics, Biomarkers blood, Blood Coagulation genetics, Brain Ischemia diagnosis, Brain Ischemia genetics, Chi-Square Distribution, Factor V genetics, Female, Genetic Predisposition to Disease, Heredity, Humans, Italy epidemiology, Logistic Models, Male, Middle Aged, Multivariate Analysis, Mutation, Odds Ratio, Phenotype, Prognosis, Proportional Hazards Models, Prothrombin genetics, Recurrence, Risk Factors, Smoking adverse effects, Smoking mortality, Stroke diagnosis, Stroke genetics, Thrombosis diagnosis, Thrombosis genetics, Time Factors, Young Adult, Arterial Occlusive Diseases epidemiology, Brain Ischemia epidemiology, Stroke epidemiology, Thrombosis epidemiology
- Abstract
Factors predicting family history (FH) of premature arterial thrombosis in young patients with ischaemic stroke (IS) have not been extensively investigated, and whether they might influence the risk of post-stroke recurrence is still unknown. In the present study we analysed 1,881 consecutive first-ever IS patients aged 18-45 years recruited from January 2000 to January 2012 as part of the Italian Project on Stroke in Young Adults (IPSYS). FH of premature arterial thrombosis was any thrombotic event [IS, myocardial infarction or other arterial events event] < 45 years in proband's first-degree relatives. Compared with patients without FH of premature arterial thrombosis, those with FH (n = 85) were more often smokers (odds ratio [OR], 1.94; 95 % confidence interval [CI], 1.21-3.09) and carriers of procoagulant abnormalities (OR, 3.66; 95 % CI, 2.21-6.06). Smoking (OR, 2.48; 95 % CI, 1.20-5.15), the A1691 mutation in factor V gene (OR, 3.64; 95 % CI, 1.31-10.10), and the A20210 mutation in the prothrombin gene (OR, 8.40; 95 % CI 3.35-21.05) were associated with FH of premature stroke (n = 33), while circulating anti-phospholipids to FH of premature myocardial infarction (n = 45; OR, 3.48; 95 % CI, 1.61-7.51). Mean follow-up time was 46.6 ± 38.6 months. Recurrent events occurred more frequently in the subgroup of patients with FH of premature stroke [19.4 %); p = 0.051] compared to patients without such a FH. In conclusion, young IS patients with FH of premature arterial thrombosis exhibit a distinct risk-factor profile, an underlying procoagulant state and have worse vascular prognosis than those with no FH of juvenile thrombotic events.
- Published
- 2015
- Full Text
- View/download PDF
39. An unusual cause of ischemic stroke with successful thrombolysis.
- Author
-
Corrado G, Panisi P, Checcarelli N, and Ambrosiani L
- Subjects
- Administration, Intravenous, Brain Ischemia diagnosis, Brain Ischemia etiology, Cardiac Surgical Procedures, Female, Fibroma diagnosis, Fibroma surgery, Heart Neoplasms diagnosis, Heart Neoplasms surgery, Humans, Middle Aged, Stroke diagnosis, Stroke etiology, Treatment Outcome, Brain Ischemia drug therapy, Fibrinolytic Agents administration & dosage, Fibroma complications, Heart Neoplasms complications, Stroke drug therapy, Thrombolytic Therapy, Tissue Plasminogen Activator administration & dosage
- Abstract
A 63-year-old woman was admitted because of sudden ischemic hemyplegia promptly cleared up by intravenous (IV) recombinant tissue plasminogen activator. On subsequent 2-dimensional echocardiogram, we observed an extremely mobile homogeneous mass attached by a short stalk to ventricular insertion of anterolateral papillary muscle chordae tendineae. The mass was surgically removed. Gross anatomy showed a mass with a gelatinoids appearance formed on histology by a lining of hyperplastic endocardial cells covering a hypocellular stroma consistent with papillary fibroelastoma. Given the prompt clinical improvement with IV thrombolytic therapy, we postulate that cerebral artery occlusion was at least in part because of thrombotic material., (Copyright © 2013 National Stroke Association. Published by Elsevier Inc. All rights reserved.)
- Published
- 2013
- Full Text
- View/download PDF
40. Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A.
- Author
-
Corrado G, Checcarelli N, Santarone M, Stollberger C, and Finsterer J
- Subjects
- Bundle-Branch Block genetics, Cardiomyopathy, Dilated genetics, Charcot-Marie-Tooth Disease complications, Charcot-Marie-Tooth Disease physiopathology, Chromosomes, Human, Pair 17, Female, Genetic Predisposition to Disease, Heart Failure genetics, Heart Rate genetics, Humans, Hypertrophy, Left Ventricular etiology, Hypertrophy, Left Ventricular physiopathology, Middle Aged, Stroke Volume genetics, Charcot-Marie-Tooth Disease genetics, Gene Duplication, Hypertrophy, Left Ventricular genetics, Myelin Proteins genetics
- Abstract
A 50-year-old women with Charcot-Marie-Tooth hereditary neuropathy type 1A due to the PMP22 duplication on chromosome 17p11.2-12 developed a left bundle branch block and progressive dilatation of the left ventricle since age 40 years and recurrent heart failure since age 44 years. At age 50 years left ventricular hypertrabeculation/noncompaction was first recognized on transthoracic echocardiography. A possible causal relation between the cardiac abnormalities and the PMP22 duplication is discussed., (Copyright 2006 S. Karger AG, Basel.)
- Published
- 2006
- Full Text
- View/download PDF
41. Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation.
- Author
-
Giordano C, Pallotti F, Walker WF, Checcarelli N, Musumeci O, Santorelli F, d'Amati G, Schon EA, DiMauro S, Hirano M, and Davidson MM
- Subjects
- Adult, Cell Division, Cells, Cultured, Clone Cells, Female, Fibroblasts cytology, Fibroblasts physiology, Humans, Kinetics, Middle Aged, Point Mutation, Polymorphism, Restriction Fragment Length, DNA, Mitochondrial genetics, Deafness genetics, RNA, Ribosomal genetics
- Abstract
The pathogenic mechanisms of the A1555G mitochondrial DNA mutation in the 12S rRNA gene, associated with maternally inherited sensorineural deafness, are largely unknown. Previous studies have suggested an involvement of nuclear factor(s). To address this issue cybrids were generated by fusing osteosarcoma cells devoid of mtDNA with enucleated fibroblasts from two genetically unrelated patients. Furthermore, to determine the contribution, if any, of the mitochondrial and nuclear genomes, separately or in combination, in the expression of the disease phenotype, transmitochondrial fibroblasts were constructed using control and patient's fibroblasts as nuclear donors and homoplasmic mutant or wild-type cybrids as mitochondrial donors. Detailed analysis of mutant and wild-type cybrids from both patients and transmitochondrial fibroblast clones did not reveal any respiratory chain dysfunction suggesting that, if nuclear factors do indeed act as modifier agents, they may be tissue-specific. However, in the presence of high concentrations of neomycin or paromomycin, but not of streptomycin, mutant cells exhibit a decrease in the growth rate, when compared to wild-type cells. The decrease did not correlate with the rate of synthesis or stability of mitochondrial DNA-encoded subunits or respiratory chain activity. Further studies are required to determine the underlying biochemical defect.
- Published
- 2002
- Full Text
- View/download PDF
42. Assay of mitochondrial ATP synthesis in animal cells.
- Author
-
Manfredi G, Spinazzola A, Checcarelli N, and Naini A
- Subjects
- Adenosine Triphosphatases genetics, Adenosine Triphosphatases metabolism, Animals, Biological Assay methods, Cells, Cultured, DNA, Mitochondrial genetics, DNA, Mitochondrial metabolism, Digitonin pharmacology, Fibroblasts drug effects, Fibroblasts metabolism, Firefly Luciferin metabolism, Humans, Indicators and Reagents pharmacology, Leigh Disease metabolism, Luciferases metabolism, Luminescent Measurements, Mitochondria drug effects, Mitochondria enzymology, Mitochondrial Diseases metabolism, Adenosine Triphosphate metabolism, Mitochondria metabolism
- Published
- 2001
- Full Text
- View/download PDF
43. A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy.
- Author
-
Andreu AL, Checcarelli N, Iwata S, Shanske S, and DiMauro S
- Subjects
- Cardiomyopathies pathology, Histiocytes pathology, Humans, Cardiomyopathies genetics, Cytochrome b Group genetics, Mutation, Missense
- Abstract
We describe a pathogenic mutation in the mitochondrial cytochrome b gene in a patient with a multisystem disorder presenting as histiocytoid cardiomyopathy in whom a defect of ubiquinol cytochrome c oxidoreductase of the electron transport chain had been documented biochemically. The mutation, a G to A transition at nucleotide 15498, results in the substitution of glycine with aspartic acid at amino acid position 251. The mutation, which is heteroplasmic and fulfills all accepted criteria for pathogenicity, is likely to impair the function of the holoenzyme as deduced from its effects on the crystal structure of ubiquinol cytochrome c oxidoreductase. This is the first molecular defect associated with histiocytoid cardiomyopathy.
- Published
- 2000
- Full Text
- View/download PDF
44. Critically ill patients: immunological evidence of inflammation in muscle biopsy.
- Author
-
Bazzi P, Moggio M, Prelle A, Sciacco M, Messina S, Barbieri S, Tonin P, Tomelleri G, Battistel A, Adobbati L, Checcarelli N, Veschi G, and Scarlato G
- Subjects
- Adult, Aged, Biopsy, Female, Histocytochemistry, Humans, Immunohistochemistry, Male, Microscopy, Electron, Middle Aged, Necrosis, Critical Illness, Inflammation pathology, Muscular Diseases pathology
- Abstract
Aim and Method: To verify whether muscle necrosis in critically ill patients could be due to an inflammatory process, we tested muscle biopsies from five intensive care patients with different inflammation-specific immunocytochemical markers (antibodies anti-class I major histocompatibility complex products (class I MHCP or HLA I), membrane attack complex (MAC), T lymphocytes helper-inducer (CD4), cytotoxic (CD8) and pan-B-lymphocytes)., Results: In three patients muscle biopsy showed class I MHCP positivity on the surface membrane of several groups of fibres, mainly perifascicular, and scattered microvascular deposits of MAC. In the other two patients muscle biopsy did not show class I MHCP and MAC positivity., Conclusion: Our results suggest that inflammation may be a component of muscle damage in some critically ill patients.
- Published
- 1999
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.