516 results on '"Cavestro C"'
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2. Travail et reconnaissance des compétences W. Cavestro C. Durieux S. Monchatre
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Tallard, Michèle
- Published
- 2008
3. Travail et reconnaissance des compétences, W. Cavestro, C. Durieux, S. Monchatre (Eds.)
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Tallard, Michèle
- Abstract
Ce livre constitue les actes d’un séminaire coorganisé par le laboratoire d’économie de la production et de l’intégration internationale (LEPII) et le Céreq à Grenoble en 2005 et début 2006. Après une introduction du collectif des éditeurs rappelant que la question centrale du livre est celle de la construction et la reconnaissance des compétences individuelles et collectives, cet ouvrage, composé de 11 contributions, est structuré en trois parties correspondant, selon ces auteurs, aux trois ...
- Published
- 2019
4. CoA synthase plays a critical role in neurodevelopment and neurodegeneration.
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Cavestro C, D'Amato M, Colombo MN, Cascone F, Moro AS, Levi S, Tiranti V, and Di Meo I
- Abstract
Coenzyme A (CoA), which is widely distributed and vital for cellular metabolism, is a critical molecule essential in both synthesizing and breaking down key energy sources in the body. Inborn errors of metabolism in the cellular de novo biosynthetic pathway of CoA have been linked to human genetic disorders, emphasizing the importance of this pathway. The COASY gene encodes the bifunctional enzyme CoA synthase, which catalyzes the last two reactions of the CoA biosynthetic pathway and serves as one of the rate-limiting components of the pathway. Recessive variants of this gene cause an exceptionally rare and devastating disease called COASY protein-associated neurodegeneration (CoPAN) while complete loss-of-function variants in COASY have been identified in fetuses/neonates with Pontocerebellar Hypoplasia type 12 (PCH 12). Understanding why the different symptoms emerge in these disorders and what determines the development of one syndrome over the other is still not achieved. To shed light on the pathogenesis, we generated a new conditional animal model in which Coasy was deleted under the control of the human GFAP promoter. We used this mouse model to investigate how defects in the CoA biosynthetic pathway affect brain development. This model showed a broad spectrum of severity of the in vivo phenotype, ranging from very short survival (less than 2 weeks) to normal life expectancy in some animals. Surviving mice displayed a behavioral phenotype with sensorimotor defects. Ex vivo histological analysis revealed variable but consistent cerebral and cerebellar cortical hypoplasia, in parallel with a broad astrocytic hyper-proliferation in the cerebral cortex. In addition, primary astrocytes derived from this model exhibited lipid peroxidation, iron dyshomeostasis, and impaired mitochondrial respiration. Notably, Coasy ablation in radial glia and astrocytic lineage triggers abnormal neuronal development and chronic neuroinflammation, offering new insights into disease mechanisms., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision., (Copyright © 2024 Cavestro, D’Amato, Colombo, Cascone, Moro, Levi, Tiranti and Di Meo.)
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- 2024
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5. Travail et reconnaissance des compétences, W. Cavestro, C. Durieux, S. Monchatre (Eds.)
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Michèle Tallard
- Subjects
Sociology and Political Science ,Industrial relations - Published
- 2008
6. Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.
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Cavestro C, Morra F, Legati A, D'Amato M, Nasca A, Iuso A, Lubarr N, Morrison JL, Wheeler PG, Serra-Juhé C, Rodríguez-Santiago B, Turón-Viñas E, Prouteau C, Barth M, Hayflick SJ, Ghezzi D, Tiranti V, and Di Meo I
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- Humans, Male, Female, Child, Child, Preschool, Epilepsy genetics, Fibroblasts metabolism, Adolescent, Autism Spectrum Disorder genetics, Adult, Transferases, Phenotype, Transcriptome
- Abstract
Objective: COASY, the gene encoding the bifunctional enzyme CoA synthase, which catalyzes the last two reactions of cellular de novo coenzyme A (CoA) biosynthesis, has been linked to two exceedingly rare autosomal recessive disorders, such as COASY protein-associated neurodegeneration (CoPAN), a form of neurodegeneration with brain iron accumulation (NBIA), and pontocerebellar hypoplasia type 12 (PCH12). We aimed to expand the phenotypic spectrum and gain insights into the pathogenesis of COASY-related disorders., Methods: Patients were identified through targeted or exome sequencing. To unravel the molecular mechanisms of disease, RNA sequencing, bioenergetic analysis, and quantification of critical proteins were performed on fibroblasts., Results: We identified five new individuals harboring novel COASY variants. While one case exhibited classical CoPAN features, the others displayed atypical symptoms such as deafness, language and autism spectrum disorders, brain atrophy, and microcephaly. All patients experienced epilepsy, highlighting its potential frequency in COASY-related disorders. Fibroblast transcriptomic profiling unveiled dysregulated expression in genes associated with mitochondrial respiration, responses to oxidative stress, transmembrane transport, various cellular signaling pathways, and protein translation, modification, and trafficking. Bioenergetic analysis revealed impaired mitochondrial oxygen consumption in COASY fibroblasts. Despite comparable total CoA levels to control cells, the amounts of mitochondrial 4'-phosphopantetheinylated proteins were significantly reduced in COASY patients., Interpretation: These results not only extend the clinical phenotype associated with COASY variants but also suggest a continuum between CoPAN and PCH12. The intricate interplay of altered cellular processes and signaling pathways provides valuable insights for further research into the pathogenesis of COASY-associated diseases., (© 2024 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)
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- 2024
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7. Thrombophilic alterations, migraine, and vascular disease: results from a case-control study.
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Cavestro C, Degan D, Micca G, Aloi R, Mandrino S, Frigeri MC, Pistoia F, Molinari F, and Sacco S
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- Adult, Case-Control Studies, Cross-Sectional Studies, Female, Humans, Male, Risk Factors, Migraine Disorders epidemiology, Thrombosis
- Abstract
Background: The association between thrombophilic alterations, migraine, and vascular events has been broadly investigated but not been completely clarified., Methods: In this cross-sectional, case-control study, we included consecutive outpatients diagnosed with migraine referring to a tertiary headache center. Migraine patients were matched to headache-free control subjects. All participants were evaluated for free protein S anticoagulant, functional protein C anticoagulant, homocysteine, and antiphospholipid antibodies (aPLs). History of ischemic stroke (IS) or transient ischemic attack (TIA), coronary heart disease, and peripheral venous thrombosis was also ascertained., Results: We included 329 migraine patients and 329 control subjects (mean age 41 years, 77% women in both groups). Among migraine patients, 239 (72.6%) had migraine without aura and 90 (27.4%) had migraine with aura. Migraine patients had more frequently arterial hypertension, hypercholesterolemia, history of IS or TIA and, peripheral venous thrombosis compared to control subjects, whereas we found no differences in diabetes mellitus, BMI, and coronary heart disease between the two groups. At least one thrombophilic alteration was detected in 107 (32.5%) migraine patients and in 74 (22.5%) control subjects (OR = 1.66, 95% CI 1.17-2.35, p = 0.004). We identified an association of migraine with aPL positivity (OR = 2.6, 95% CI 1.5-4.7, p = 0.001) and with free protein S deficiency (OR = 4.7, 95% CI 1.6-14.0, p = 0.002), whereas we found no differences in protein C deficiency, APCR, and hyperhomocysteinemia between the two groups. Furthermore, aPL positivity and free protein S deficiency were more common in migraine patients with and without aura than in control subjects. We found that in migraine patients, aPL positivity was associated with both IS or TIA (OR = 5.6, 95% CI 1.5-20.4, p = 0.009) and with coronary heart disease (OR = 27.6, 95% CI 1.4-531.1, p = 0.028), whereas free protein S deficiency was associated with IS or TIA only (OR = 14.3, 95% CI 2.8-74.4, p = 0.002)., Conclusions: Our research documented a significative higher prevalence of aPL positivity and protein S deficiency in migraineurs than in controls. Data also showed an association between these alterations and some vascular thrombotic events in migraine patients. We can argue that thrombophilic disorders associated with migraine may contribute to the occurrence of vascular events., (© 2021. Fondazione Società Italiana di Neurologia.)
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- 2021
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8. A cross-sectional study on the association between Helicobacter pylori infection and headache.
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Cavestro C, Prandi G, Manildo M, Martini S, Genovesi C, Premoli A, Fraire F, Neri L, Mandrino S, Ferrero M, and Rota E
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- Cross-Sectional Studies, Female, Headache complications, Headache epidemiology, Humans, Middle Aged, Helicobacter Infections complications, Helicobacter Infections diagnosis, Helicobacter Infections epidemiology, Helicobacter pylori, Migraine Disorders complications, Migraine Disorders epidemiology
- Abstract
Background: The relationship between chronic Helicobacter pylori (HP) infection and headache has been discussed for long; nevertheless, the results of the studies are still contrasting., Objective: This cross-sectional study is aimed to investigate a possible association between HP and headache, mainly migraine., Methods: We screened, by a self-administered questionnaire, the subjects undergoing a breath test or an esophagogastroduodenoscopy. Migraine was diagnosed according to the international criteria., Results: A total of 3914 patients underwent a breath test and 2200 an esophagogastroduodenoscopy at two hospitals, in Piedmont (Italy), in a 5-year period; a total of 1362 questionnaires were included in the study. The mean age of the subjects was 53 years; there were 777 women (57%). HP was detected in 364 (27%) subjects. A total of 702 (51%) subjects suffered from headache: migraine with aura was diagnosed in 176 subjects (176/702, i.e., 25% of the headache group; 176/1362, i.e., 13% of the total population); migraine without aura in 98 subjects (98/702, i.e., 14% of the headache group; 98/1362, i.e., 7% of the total). The logistic regression model did not detect any significant association between HP infection and headache, while a significant association between HP and headache frequency (p =0.009) was found, independently of age, gender, comorbidity, and diagnostic category., Conclusion: Our study does not reveal an association between chronic HP infection and migraine. However, since HP is significantly associated with higher headache frequency, a role for HP as a risk factor for headache chronification, possibly underlain by inflammatory mechanisms, may be supposed., (© 2022. Fondazione Società Italiana di Neurologia.)
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- 2022
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9. Migraineurs show a high prevalence of antiphospholipid antibodies
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CAVESTRO, C., MICCA, G., MOLINARI, F., BAZZAN, M., DI PIETRANTONJ, C., ALOI, R., PEDEMONTE, E., IANNINI, R., FRIGERI, M.C., and ROCCATELLO, D.
- Published
- 2011
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10. Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments.
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Cavestro C, Diodato D, Tiranti V, and Di Meo I
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- Humans, Iron metabolism, Biosynthetic Pathways genetics, Coenzyme A metabolism, Phosphotransferases (Alcohol Group Acceptor) metabolism, Pantothenate Kinase-Associated Neurodegeneration drug therapy, Cardiomyopathy, Dilated
- Abstract
Coenzyme A (CoA) is a vital and ubiquitous cofactor required in a vast number of enzymatic reactions and cellular processes. To date, four rare human inborn errors of CoA biosynthesis have been described. These disorders have distinct symptoms, although all stem from variants in genes that encode enzymes involved in the same metabolic process. The first and last enzymes catalyzing the CoA biosynthetic pathway are associated with two neurological conditions, namely pantothenate kinase-associated neurodegeneration (PKAN) and COASY protein-associated neurodegeneration (CoPAN), which belong to the heterogeneous group of neurodegenerations with brain iron accumulation (NBIA), while the second and third enzymes are linked to a rapidly fatal dilated cardiomyopathy. There is still limited information about the pathogenesis of these diseases, and the knowledge gaps need to be resolved in order to develop potential therapeutic approaches. This review aims to provide a summary of CoA metabolism and functions, and a comprehensive overview of what is currently known about disorders associated with its biosynthesis, including available preclinical models, proposed pathomechanisms, and potential therapeutic approaches.
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- 2023
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11. Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro.
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Zanuttigh E, Derderian K, Güra MA, Geerlof A, Di Meo I, Cavestro C, Hempfling S, Ortiz-Collazos S, Mauthe M, Kmieć T, Cammarota E, Panzeri MC, Klopstock T, Sattler M, Winkelmann J, Messias AC, and Iuso A
- Abstract
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a relentlessly progressive neurodegenerative disorder caused by mutations in the C19orf12 gene. C19orf12 has been implicated in playing a role in lipid metabolism, mitochondrial function, and autophagy, however, the precise functions remain unknown. To identify new robust cellular targets for small compound treatments, we evaluated reported mitochondrial function alterations, cellular signaling, and autophagy in a large cohort of MPAN patients and control fibroblasts. We found no consistent alteration of mitochondrial functions or cellular signaling messengers in MPAN fibroblasts. In contrast, we found that autophagy initiation is consistently impaired in MPAN fibroblasts and show that C19orf12 expression correlates with the amount of LC3 puncta, an autophagy marker. Finally, we screened 14 different autophagy modulators to test which can restore this autophagy defect. Amongst these compounds, carbamazepine, ABT-737, LY294002, oridonin, and paroxetine could restore LC3 puncta in the MPAN fibroblasts, identifying them as novel potential therapeutic compounds to treat MPAN. In summary, our study confirms a role for C19orf12 in autophagy, proposes LC3 puncta as a functionally robust and consistent readout for testing compounds, and pinpoints potential therapeutic compounds for MPAN.
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- 2023
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12. PPAR Gamma Agonist Leriglitazone Recovers Alterations Due to Pank2-Deficiency in hiPS-Derived Astrocytes.
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Santambrogio P, Cozzi A, Di Meo I, Cavestro C, Vergara C, Rodríguez-Pascau L, Martinell M, Pizcueta P, Tiranti V, and Levi S
- Abstract
The novel brain-penetrant peroxisome proliferator-activated receptor gamma agonist leriglitazone, previously validated for other rare neurodegenerative diseases, is a small molecule that acts as a regulator of mitochondrial function and exerts neuroprotective, anti-oxidative and anti-inflammatory effects. Herein, we tested whether leriglitazone can be effective in ameliorating the mitochondrial defects that characterize an hiPS-derived model of Pantothenate kinase-2 associated Neurodegeneration (PKAN). PKAN is caused by a genetic alteration in the mitochondrial enzyme pantothenate kinase-2, whose function is to catalyze the first reaction of the CoA biosynthetic pathway, and for which no effective cure is available. The PKAN hiPS-derived astrocytes are characterized by mitochondrial dysfunction, cytosolic iron deposition, oxidative stress and neurotoxicity. We monitored the effect of leriglitazone in comparison with CoA on hiPS-derived astrocytes from three healthy subjects and three PKAN patients. The treatment with leriglitazone did not affect the differentiation of the neuronal precursor cells into astrocytes, and it improved the viability of PKAN cells and their respiratory activity, while diminishing the iron accumulation similarly or even better than CoA. The data suggest that leriglitazone is well tolerated in this cellular model and could be considered a beneficial therapeutic approach in the treatment of PKAN.
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- 2023
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13. High prolactin levels as a worsening factor for migraine
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Cavestro, C., Rosatello, A., Marino, M. P., Micca, G., and Asteggiano, G.
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- 2006
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14. Incidence, risk factors and short-term mortality of stroke in Vittoria, southern Italy
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Iemolo, F., Beghi, E., Cavestro, C., Micheli, A., Giordano, A., and Caggia, E.
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- 2002
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15. Chronic alcohol use and first symptomatic epileptic seizures. (Paper)
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Leone, M., Tonini, C., Bogliun, G., Monaco, F., Mutani, R., Bottacchi, E., Gambaro, P., Rocci, E., Tassinari, T., Cavestro, C., and Beghi, E.
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Alcoholism -- Physiological aspects -- Risk factors ,Epilepsy -- Risk factors -- Physiological aspects ,Health ,Psychology and mental health ,Physiological aspects ,Risk factors - Abstract
Objective: To establish whether chronic alcoholism and alcohol consumption are risk factors for developing a first symptomatic epileptic seizure. Methods: Multicentre case-control study of 293 patients (160 men, 133 women) [...]
- Published
- 2002
16. Encephalitis in Patients with COVID-19: A Systematic Evidence-Based Analysis.
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Islam MA, Cavestro C, Alam SS, Kundu S, Kamal MA, and Reza F
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- Adult, Brain diagnostic imaging, Child, Female, Humans, Male, SARS-CoV-2, COVID-19, Encephalitis complications, Mental Disorders
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Although severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) predominantly infects the respiratory system, several investigations have shown the involvement of the central nervous system (CNS) along the course of the illness, with encephalitis being one of the symptoms. The objective of this systematic review was to evaluate the characteristics (clinical, neuro-radiological aspects, and laboratory features) and outcomes of encephalitis in COVID-19 patients. PubMed, Scopus, and Google Scholar databases were searched from 1 December 2019 until 21 July 2022 to identify case reports and case series published on COVID-19 associated with encephalitis. The quality of the included studies was assessed by the Joanna Briggs Institute critical appraisal checklists. This systematic review included 79 studies, including 91 COVID-19 patients (52.7% male) experiencing encephalitis, where 85.6% were adults (49.3 ± 20.2 years), and 14.4% were children (11.2 ± 7.6 years). RT-PCR was used to confirm 92.2% of the COVID-19 patients. Encephalitis-related symptoms were present in 78.0% of COVID-19 patients at the time of diagnosis. In these encephalitis patients, seizure (29.5%), confusion (23.2%), headache (20.5%), disorientation (15.2%), and altered mental status (11.6%) were the most frequently reported neurologic manifestations. Looking at the MRI, EEG, and CSF findings, 77.6%, 75.5%, and 64.1% of the patients represented abnormal results. SARS-CoV-2-associated or -mediated encephalitis were the most common type observed (59.3%), followed by autoimmune encephalitis (18.7%). Among the included patients, 66.7% were discharged (37.8% improved and 28.9% fully recovered), whereas 20.0% of the reported COVID-19-positive encephalitis patients died. Based on the quality assessment, 87.4% of the studies were of high quality. Although in COVID-19, encephalitis is not a typical phenomenon, SARS-CoV-2 seems like a neuropathogen affecting the brain even when there are no signs of respiratory illness, causing a high rate of disability and fatality.
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- 2022
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17. Inter-rater agreement in the ICD-9 coding of stroke
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Gaviani, P., Leone, M. A., Sciolla, R., Labate, C., Bottacchi, E., Cavestro, C., Priano, L., Naldi, P., Boccagni, C., Passoni, D., Gay, P., Verdun, E., and Monaco, F.
- Published
- 2003
18. Massive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotype.
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Santambrogio P, Ripamonti M, Cozzi A, Raimondi M, Cavestro C, Di Meo I, Rubio A, Taverna S, Tiranti V, and Levi S
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- Coenzyme A genetics, Coenzyme A metabolism, Humans, Iron metabolism, Neurons metabolism, Phenotype, Phosphotransferases (Alcohol Group Acceptor) metabolism, Astrocytes metabolism, Pantothenate Kinase-Associated Neurodegeneration genetics, Pantothenate Kinase-Associated Neurodegeneration metabolism, Pantothenate Kinase-Associated Neurodegeneration pathology
- Abstract
Neurodegeneration associated with defective pantothenate kinase-2 (PKAN) is an early-onset monogenic autosomal-recessive disorder. The hallmark of the disease is the massive accumulation of iron in the globus pallidus brain region of patients. PKAN is caused by mutations in the PANK2 gene encoding the mitochondrial enzyme pantothenate kinase-2, whose function is to catalyze the first reaction of the CoA biosynthetic pathway. To date, the way in which this alteration leads to brain iron accumulation has not been elucidated. Starting from previously obtained hiPS clones, we set up a differentiation protocol able to generate inhibitory neurons. We obtained striatal-like medium spiny neurons composed of approximately 70-80% GABAergic neurons and 10-20% glial cells. Within this mixed population, we detected iron deposition in both PKAN cell types, however, the viability of PKAN GABAergic neurons was strongly affected. CoA treatment was able to reduce cell death and, notably, iron overload. Further differentiation of hiPS clones in a pure population of astrocytes showed particularly evident iron accumulation, with approximately 50% of cells positive for Perls staining. The analysis of these PKAN astrocytes indicated alterations in iron metabolism, mitochondrial morphology, respiratory activity, and oxidative status. Moreover, PKAN astrocytes showed signs of ferroptosis and were prone to developing a stellate phenotype, thus gaining neurotoxic features. This characteristic was confirmed in iPS-derived astrocyte and glutamatergic neuron cocultures, in which PKAN glutamatergic neurons were less viable in the presence of PKAN astrocytes. This newly generated astrocyte model is the first in vitro disease model recapitulating the human phenotype and can be exploited to deeply clarify the pathogenetic mechanisms underlying the disease., (© 2022. The Author(s).)
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- 2022
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19. Basal Electricxal Activity Recorded from corpora cavernosa in men
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Cavestro C and Benecchi L
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- 2017
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20. Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.
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Cavestro C, Panteghini C, Reale C, Nasca A, Fenu S, Salsano E, Chiapparini L, Garavaglia B, Pareyson D, Di Meo I, and Tiranti V
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- Adult, Age of Onset, Atrophy pathology, Female, Humans, Nervous System Malformations genetics, Neuroaxonal Dystrophies genetics, Neurodegenerative Diseases genetics, Neurodegenerative Diseases pathology, Parkinson Disease diagnosis, Parkinson Disease pathology, Phenotype, Brain pathology, Group VI Phospholipases A2 genetics, Mutation genetics, Parkinson Disease genetics
- Abstract
PLA2G6 is the causative gene for a group of autosomal recessive neurodegenerative disorders known as PLA2G6-associated neurodegeneration (PLAN). We present a case with early-onset parkinsonism, ataxia, cognitive decline, cerebellar atrophy, and brain iron accumulation. Sequencing of PLA2G6 coding regions identified only a heterozygous nonsense variant, but mRNA analysis revealed the presence of an aberrant transcript isoform due to a novel deep intronic variant (c.2035-274G > A) leading to activation of an intronic pseudo-exon. These results expand the genotypic spectrum of PLAN, showing the paramount importance of detecting possible pathogenic variants in deep intronic regions in undiagnosed patients., (© 2021. The Author(s).)
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- 2021
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21. Melatonin and Sleep Disturbances in Alzheimer's Disease.
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Prodhan AHMSU, Cavestro C, Kamal MA, and Islam MA
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- Aged, Aged, 80 and over, Circadian Rhythm physiology, Humans, Sleep physiology, Time Factors, Alzheimer Disease drug therapy, Antioxidants therapeutic use, Melatonin therapeutic use, Sleep Wake Disorders drug therapy
- Abstract
Alzheimer’s disease (AD) is a progressive neurodegenerative disorder characterized by sleep, behavioral, memory, and cognitive deteriorations. Sleep disturbance (SD) is a major disease burden in AD, which has a reciprocal relationship with AD pathophysiology. It aggravates memory, behavioral, and cognitive complications in AD. Different studies have found that melatonin hormone levels reduce even in the pre-clinical stages of AD. Melatonin is the primary sleep-regulating hormone and a potent antioxidant with neuroprotective roles. The decrease in melatonin levels can thus promote SD and AD neuropathology. Exogenous melatonin has the potential to alleviate neuropathology and SD in AD by different mechanisms. Various studies have been conducted to assess the efficacy of exogenous melatonin to treat SD in AD. Though most of the studies suggest that melatonin is useful to ameliorate SD in AD, the remaining studies show opposite results. The timing, dosage, and duration of melatonin administration along with disease condition, genetic, environmental, and some other factors can be responsible for the discrepancies between the studies. More extensive trials with longer durations and higher dosage forms and studies including bright light therapy and melatonin agonists (ramelteon, agomelatine, and tasimelteon) should be performed to determine the efficacy of melatonin to treat SD in AD., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)
- Published
- 2021
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22. Neuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model.
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Di Meo I, Cavestro C, Pedretti S, Fu T, Ligorio S, Manocchio A, Lavermicocca L, Santambrogio P, Ripamonti M, Levi S, Ayciriex S, Mitro N, and Tiranti V
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- Animals, Coenzyme A metabolism, Female, Hemochromatosis etiology, Homeostasis, Male, Mice, Mice, Inbred C57BL, Mice, Knockout, Mitochondria genetics, Mitochondria metabolism, Mitochondria pathology, Mitochondrial Diseases etiology, Mitochondrial Diseases metabolism, Motor Disorders etiology, Motor Disorders metabolism, Coenzyme A Ligases physiology, Hemochromatosis pathology, Iron metabolism, Mitochondrial Diseases pathology, Motor Disorders pathology, Pantothenate Kinase-Associated Neurodegeneration complications, Synapsins physiology
- Abstract
COASY protein-associated neurodegeneration (CoPAN) is a rare but devastating genetic autosomal recessive disorder of inborn error of CoA metabolism, which shares with pantothenate kinase-associated neurodegeneration (PKAN) similar features, such as dystonia, parkinsonian traits, cognitive impairment, axonal neuropathy, and brain iron accumulation. These two disorders are part of the big group of neurodegenerations with brain iron accumulation (NBIA) for which no effective treatment is available at the moment. To date, the lack of a mammalian model, fully recapitulating the human disorder, has prevented the elucidation of pathogenesis and the development of therapeutic approaches. To gain new insights into the mechanisms linking CoA metabolism, iron dyshomeostasis, and neurodegeneration, we generated and characterized the first CoPAN disease mammalian model. Since CoA is a crucial metabolite, constitutive ablation of the Coasy gene is incompatible with life. On the contrary, a conditional neuronal-specific Coasy knock-out mouse model consistently developed a severe early onset neurological phenotype characterized by sensorimotor defects and dystonia-like movements, leading to premature death. For the first time, we highlighted defective brain iron homeostasis, elevation of iron, calcium, and magnesium, together with mitochondrial dysfunction. Surprisingly, total brain CoA levels were unchanged, and no signs of neurodegeneration were present.
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- 2020
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23. Prevalence of Headache in Patients With Coronavirus Disease 2019 (COVID-19): A Systematic Review and Meta-Analysis of 14,275 Patients.
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Islam MA, Alam SS, Kundu S, Hossan T, Kamal MA, and Cavestro C
- Abstract
Background: Coronavirus disease 2019 (COVID-19) started to spread globally since December 2019 from Wuhan, China. Headache has been observed as one of the clinical manifestations in COVID-19 patients. We aimed to conduct a comprehensive systematic review and meta-analysis to estimate the overall pooled prevalence of headache in COVID-19 patients. Methods: PubMed, Scopus, ScienceDirect, and Google Scholar databases were searched to identify studies published between December 2019 and March 2020. Adult (≥18 years) COVID-19 patients were considered eligible. We used random-effects model to estimate the pooled prevalence with 95% confidence intervals (CIs). Quality assessment was done using the Joanna Briggs Institute critical appraisal tools. This study is registered with PROSPERO (CRD42020182529). Results: We identified 2,055 studies, of which 86 studies ( n = 14,275, 49.4% female) were included in the meta-analysis. Overall, the pooled prevalence of headache in COVID-19 patients was 10.1% [95% CI: 8.76-11.49]. There was no significant difference of headache prevalence in severe or critical vs. non-severe (RR: 1.05, p = 0.78), survived (recovered or discharged) vs. non-survived (RR: 1.36, p = 0.23), and ICU vs. non-ICU (RR: 1.06, p = 0.87) COVID-19 patients. We detected 64.0, 34.9, and 1.1% of the included studies as high, moderate, and low quality, respectively. Conclusions: From the first 4-month data of the outbreak, headache was detected in 10.1% of the adult COVID-19 patients., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2020 Islam, Alam, Kundu, Hossan, Kamal and Cavestro.)
- Published
- 2020
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24. Psychiatric events in epilepsy
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Cornaggia, Cesare Maria, Beghi, Massimiliano, Beghi, Ettore, Cornaggia, C. M., Airoldi, L., Beghi, M., Bogliun, G., Brambilla, E., Fiordelli, E., Mascarini, A., Moltrasio, L., Primati, C., Hauser, W. A., Loeber, J. N., De Boer, H., Thorbecke, R., Steuernagel, E., Wolf, P., Sonnen, A. E. H., Severi, S., Zolo, P., Specchio, L. M., Specchio, N., Pasolini, M. P., Antonini, L., Aguglia, U., Russo, C., Gambardella, A., Giubergia, S., Zagnoni, P. G., Cosottini, Mirco, Zaccara, G., Trio, R., Pisani, F., Russo, M., Oteri, G., Cavestro, C. E., Tonini, C., Avanzini, G., Arienti, F., Defanti, C. A., Tartara, A., Manni, R., Castelnuovo, G., Murelli, R., Galimberti, C. A., Zanotta, N., Di Viesti, P., Zarrelli, M., Apollo, F., Runge, U., de Krom, M. C. T. F. M., van Heijden, C., Griet, J., Brown, S. W., Coyle, H., Lopez Lima, J. M., Beleza, P., Ferreira, E., Talvik, T., Beilmann, A., Belousova, E., Levart, T., Zupancic, N., Gromov, S., Lipatova, L. V., Mikhailov, V., Cornaggia, C, Beghi, M, Beghi, E, and Rest, 1
- Subjects
Adult ,Male ,medicine.medical_specialty ,Neurology ,Adolescent ,Referral ,Population ,Clinical Neurology ,Comorbidity ,Anxiety ,Epilepsy ,medicine ,Humans ,epilepsy, psychiatry ,Occupations ,Psychiatry ,Prospective cohort study ,education ,Depression (differential diagnoses) ,education.field_of_study ,Depression ,business.industry ,Mental Disorders ,Case-control study ,General Medicine ,Case-control ,medicine.disease ,Psychiatric ,Case-Control Studies ,Female ,Follow-Up Studies ,Hospitalization ,Socioeconomic Factors ,Neurology (clinical) ,MED/25 - PSICHIATRIA ,Case–control ,business - Abstract
Psychiatric events are thought to be more frequent in people with epileptic seizures than in the general population. However, inter-ictal psychiatric events attributable to epilepsy remain controversial. The aim of the present study was to evaluate the occurrence of psychiatric events in a population of fairly unselected patients with epilepsy and in the general population, and the correlation between psychiatric complaints and selected demographic and disease characteristics. The survey was part of a multicentre prospective cohort study of everyday life risks conducted in eight European countries and comparing referral children and adults with epilepsy referred to secondary/tertiary centers to age- and sex-matched non-epileptic controls. Nine hundred and fifty-one patients with epilepsy and 909 controls were studied. Each patient and his/her control received a diary to record any accident or illness, with severity, circumstances, causes, consequences, and (for the cases) the possible relation to a seizure. The follow-up period ranged between 1 and 2 years. Fifty-eight psychiatric events occurred in 25 patients (2.6%) and 88 in 19 controls (2.1%). Housewives (9.3%) and unemployed persons (4.1%) were mostly affected. No correlation was found between psychiatric events, demographic and disease characteristics. Our results suggest that people with epilepsy if unselected are not at higher risk for psychiatric disorders than the general population. © 2007 British Epilepsy Association.
- Published
- 2007
25. Accidents in Patients with Epilepsy: Types, Circumstances, and Complications: A European Cohort Study
- Author
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van den Broek, Mariska, Beghi, Ettore, Cornaggia, C. M., Beghi, M., Bogliun, G., Fiordelli, E., Airoldi, L., Frigeni, B., Mascarini, A., Mapelli, L., Moltrasio, L., Biagi, E., Hauser, W. A., Loeber, J. N., Thorbecke, R., Di Viesti, P., Zarrelli, M., Apollo, F., Giovanni Rotondo, S., Steuernagel, E., Wolf, P., Sonnen, A. E. H., Specchio, L. M., Specchio, N., Boati, E., Defanti, C. A., Pinto, P., Breviario, E., Pasolini, M. P., Antonini, L., Aguglia, U., Russo, C., Gambardella, A., Giubergia, S., Zagnoni, P., Cosottini, Mirco, Zaccara, G., Pisani, F., Oteri, G., Cavestro, C. E., David, A., Tonini, C., Avanzini, G., Arienti, F., Tartara, A., Manni, R., Castelnovo, G., Murelli, R., Galimberti, C. A., Zanotta, N., Runge, U., Dekrom, M. C. T. F. M., Vanheijden, C., Griet, J., van denBroek, M. W. C., Brown, S. W., Coyle, H., Edge, Nr Alderley, Lopes Lima, J. M., Beleza, P., Ferreira, E., Talvik, T., Beilmann, A., Belousova, E., Nikanorowa, M., Ravnik, I. M., Levart, T., Zupancic, N., Gromov, S., Lipatova, L. V., Mikhailov, V., Van den Broek, M, Beghi, E, and Cornaggia, C
- Subjects
Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Poison control ,Cohort Studies ,Epilepsy ,Risk Factors ,Injury prevention ,Accidents, Occupational ,Humans ,Medicine ,Prospective Studies ,Preschool ,Child ,Prospective cohort study ,Injuries ,business.industry ,epilepsy, complications, types, circumstances ,Accidents ,Accidents, Home ,Child, Preschool ,Europe ,Female ,Follow-Up Studies ,Hospitalization ,Patient Acceptance of Health Care ,Wounds and Injuries ,Neurology ,Neurology (clinical) ,medicine.disease ,Occupational ,Relative risk ,Cohort ,Home ,business ,Risk assessment ,Cohort study - Abstract
Purpose: To investigate the risk of accidents in a cohort of patients with epilepsy and in matched nonepilepsy controls. by type, circumstances, and complications. Methods: A total of 95 1 children and adults with idiopathic, cryptogenic, or remote symptomatic epilepsy and 904 matched controls seen in secondary and tertiary centers in eight European Countries (England. Estonia, Germany, Italy, the Netherlands, Portugal. Russia. and Slovenia) were followed Lip prospectively for 17,484 and 17.206 person-months and asked to report any accident requiring medical attention. its site, and complications. Risk assessment was done by using actuarial methods, relative risks (RRs). and 95% confidence intervals (CIs). Results: During the study period, 199 (21%) patients and 123 (14%) controls reported all accident (p < 0.0001); 24% were seizure related. The Cumulative probability of accidents at 12 and 24 months was 17 and 27% in the cases and 12 and 17% in the controls. The risk was highest for concussions (RR, 2.6; 95% Cl, 1.2-5.8), abrasions (RR, 2.1; 95% Cl, 1.1-4.0), and Wounds (RR, 1.9; Cl, 1.2-3.1). Domestic accidents prevailed in both groups, followed by street and work accidents, and were more common among cases. Compared with controls, patients with epilepsy reported more hospitalization, complications, and medical action. Disease characteristics associated with an increased risk of accidents included generalized epilepsy (conclusions), active epilepsy, and at least monthly seizures (abrasions). Most risks decreased, becoming nonsignificant after excluding, seizure-related events. Conclusions: Patients with epilepsy are at higher risk of accidents and their complications. However, the risk was substantially lower after exclusion of seizure-related events
- Published
- 2004
26. Accidents in patients with epilepsy: types, circumstances, and complications: a European cohort study
- Author
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van den Broek, M, Beghi, E, Cornaggia, C, Beghi, M, Bogliun, G, Fiordelli, E, Airoldi, L, Frigeni, B, Mascarini, A, Mapelli, L, Moltrasio, L, Biagi, E, Hauser, W, Loeber, J, Thorbecke, R, Di Viesti, P, Zarrelli, M, Apollo, F, Giovanni Rotondo, S, Steuernagel, E, Wolf, P, Sonnen, A, Specchio, L, Specchio, N, Boati, E, Defanti, C, Pinto, P, Breviario, E, Pasolini, M, Antonini, L, Aguglia, U, Russo, C, Gambardella, A, Giubergia, S, Zagnoni, P, Cosottini, M, Zaccara, G, Pisani, F, Oteri, G, Cavestro, C, David, A, Tonini, C, Avanzini, G, Arienti, F, Tartara, A, Manni, R, Castelnovo, G, Murelli, R, Galimberti, C, Zanotta, N, Runge, U, Dekrom, M, Vanheijden, C, Griet, J, van denBroek, M, Brown, S, Coyle, H, Edge, N, Lopes-Lima, J, Beleza, P, Ferreira, E, Talvik, T, Beilmann, A, Belousova, E, Nikanorowa, M, Ravnik, I, Levart, T, Zupancic, N, Gromov, S, Lipatova, L, Mikhailov, V, van den Broek M., Beghi E., Cornaggia C. M., Beghi M., Bogliun G., Fiordelli E., Airoldi L., Frigeni B., Mascarini A., Mapelli L., Moltrasio L., Biagi E., Hauser W. A., Loeber J. N., Thorbecke R., Di Viesti P., Zarrelli M., Apollo F., Giovanni Rotondo S., Steuernagel E., Wolf P., Sonnen A. E. H., Specchio L. M., Specchio N., Boati E., Defanti C. A., Pinto P., Breviario E., Pasolini M. P., Antonini L., Aguglia U., Russo C., Gambardella A., Giubergia S., Zagnoni P., Cosottini M., Zaccara G., Pisani F., Oteri G., Cavestro C. E., David A., Tonini C., Avanzini G., Arienti F., Tartara A., Manni R., Castelnovo G., Murelli R., Galimberti C. A., Zanotta N., Runge U., deKrom M. C. T. F. M., vanHeijden C., Griet J., van denBroek M. W. C., Brown S. W., Coyle H., Edge N. A., Lopes-Lima J. M., Beleza P., Ferreira E., Talvik T., Beilmann A., Belousova E., Nikanorowa M., Ravnik I. M., Levart T., Zupancic N., Gromov S., Lipatova L. V., Mikhailov V., van den Broek, M, Beghi, E, Cornaggia, C, Beghi, M, Bogliun, G, Fiordelli, E, Airoldi, L, Frigeni, B, Mascarini, A, Mapelli, L, Moltrasio, L, Biagi, E, Hauser, W, Loeber, J, Thorbecke, R, Di Viesti, P, Zarrelli, M, Apollo, F, Giovanni Rotondo, S, Steuernagel, E, Wolf, P, Sonnen, A, Specchio, L, Specchio, N, Boati, E, Defanti, C, Pinto, P, Breviario, E, Pasolini, M, Antonini, L, Aguglia, U, Russo, C, Gambardella, A, Giubergia, S, Zagnoni, P, Cosottini, M, Zaccara, G, Pisani, F, Oteri, G, Cavestro, C, David, A, Tonini, C, Avanzini, G, Arienti, F, Tartara, A, Manni, R, Castelnovo, G, Murelli, R, Galimberti, C, Zanotta, N, Runge, U, Dekrom, M, Vanheijden, C, Griet, J, van denBroek, M, Brown, S, Coyle, H, Edge, N, Lopes-Lima, J, Beleza, P, Ferreira, E, Talvik, T, Beilmann, A, Belousova, E, Nikanorowa, M, Ravnik, I, Levart, T, Zupancic, N, Gromov, S, Lipatova, L, Mikhailov, V, van den Broek M., Beghi E., Cornaggia C. M., Beghi M., Bogliun G., Fiordelli E., Airoldi L., Frigeni B., Mascarini A., Mapelli L., Moltrasio L., Biagi E., Hauser W. A., Loeber J. N., Thorbecke R., Di Viesti P., Zarrelli M., Apollo F., Giovanni Rotondo S., Steuernagel E., Wolf P., Sonnen A. E. H., Specchio L. M., Specchio N., Boati E., Defanti C. A., Pinto P., Breviario E., Pasolini M. P., Antonini L., Aguglia U., Russo C., Gambardella A., Giubergia S., Zagnoni P., Cosottini M., Zaccara G., Pisani F., Oteri G., Cavestro C. E., David A., Tonini C., Avanzini G., Arienti F., Tartara A., Manni R., Castelnovo G., Murelli R., Galimberti C. A., Zanotta N., Runge U., deKrom M. C. T. F. M., vanHeijden C., Griet J., van denBroek M. W. C., Brown S. W., Coyle H., Edge N. A., Lopes-Lima J. M., Beleza P., Ferreira E., Talvik T., Beilmann A., Belousova E., Nikanorowa M., Ravnik I. M., Levart T., Zupancic N., Gromov S., Lipatova L. V., and Mikhailov V.
- Abstract
Purpose: To investigate the risk of accidents in a cohort of patients with epilepsy and in matched nonepilepsy controls, by type, circumstances, and complications. Methods: A total of 951 children and adults with idiopathic, cryptogenic, or remote symptomatic epilepsy and 904 matched controls seen in secondary and tertiary centers in eight European countries (England, Estonia, Germany, Italy, the Netherlands, Portugal, Russia, and Slovenia) were followed up prospectively for 17,484 and 17,206 person-months and asked to report any accident requiring medical attention, its site, and complications. Risk assessment was done by using actuarial methods, relative risks (RRs), and 95% confidence intervals (CIs). Results: During the study period, 199 (21%) patients and 123 (14%) controls reported an accident (p < 0.0001); 24% were seizure related. The cumulative probability of accidents at 12 and 24 months was 17 and 27% in the cases and 12 and 17% in the controls. The risk was highest for concussions (RR, 2.6; 9.5% CI, 1.2-5.8), abrasions (RR, 2.1; 95% CI, 1.1-4.0), and wounds (RR, 1.9; CI, 1.2-3.1). Domestic accidents prevailed in both groups, followed by street and work accidents, and were more common among cases. Compared with controls, patients with epilepsy reported more hospitalization, complications, and medical action. Disease characteristics associated with an increased risk of accidents included generalized epilepsy (concussions), active epilepsy, and at least monthly seizures (abrasions). Most risks decreased, becoming nonsignificant after excluding seizure-related events. Conclusions: Patients with epilepsy are at higher risk of accidents and their complications. However, the risk was substantially lower after exclusion of seizure-related events.
- Published
- 2004
27. Treatment of first tonic-clonic seizure does not affect mortality: long-term follow-up of a randomised clinical trial
- Author
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Leone, Ma, Vallalta, R, Solari, A, Beghi, E, Hauser, Wa, Fratiglioni, L, Bogliun, G, DEL FELICE, Alessandra, Aloisi, P, Marelli, A, Porto, C, Fusi, L, Francesconi, C, Gambaro, P, Basso, P, Freschi, R, Meregalli, S, Boati, E, Mamoli, A, Gavalotti, B, Camerlingo, M, Rottoli, Mr, Bottacchi, E, Carenini, L, Sironi, L, Casara, Gl, Vecchi, M, Covezzi, E, Tortorici, G, Franzoni, E, Marchiani, V, Moscano, F, Giuliani, G, Angeleri, Va, Polonara, S, Terziani, S, Quattrini, A, Ortenzi, A, Paggi, A, Iemolo, F, Geda, C, Ferrari, Gf, Binetti, Ma, Martini, A, Perenchio, Mt, Malvezzi, L, Tabladon, G, Severi, S, Zolo, P, Montano, V, Fassio, F, Vignolo, L, Pasolini, Mp, Antonini, L, De Maria, G, Rossi, G, Tonini, C, Cittani, D, Zagnoni, Pg, Clerici, D, Romeo, A, Viri, M, Lodi, M, Mazza, S, Vaccario, Ml, De Mattei, M, Cremo, R, Zaina, P, Gentile, S, Lovera, N, Piazza, D, Ravetti, C, Cavestro, C, Rosettani, P., Leone MA, Vallalta R, Solari A, Beghi E, FIRST Group [.., Franzoni E, and ]
- Subjects
Male ,Time Factors ,long-term follow-up ,Electroencephalography ,law.invention ,Epilepsy ,Randomized controlled trial ,law ,Recurrence ,Risk Factors ,Young adult ,Family history ,Child ,first tonic-clonic seizure ,medicine.diagnostic_test ,treatment ,clinical trial ,Middle Aged ,Magnetic Resonance Imaging ,first tonic–clonic seizure ,seizure ,Settore MED/26 - NEUROLOGIA ,Psychiatry and Mental health ,Treatment Outcome ,Child, Preschool ,Anticonvulsants ,Female ,Adult ,medicine.medical_specialty ,Adolescent ,antiepileptic treatment ,Neurological examination ,Young Adult ,Seizures ,Internal medicine ,medicine ,Humans ,business.industry ,medicine.disease ,mortality ,Surgery ,Clinical trial ,tonic-clonic seizure ,Etiology ,Neurology (clinical) ,business ,Tomography, X-Ray Computed ,Follow-Up Studies - Abstract
Information on the effects of early treatment of seizures on mortality is scarce. The authors assessed the survival of patients with a first generalised tonic-clonic seizure, randomised to immediate treatment (treated) versus treatment only in the event of seizure recurrence (untreated), over a 20-year period. METHODS: The authors followed 419 patients. The median follow-up was 19.7 years (range 0.2-21.5) for a total of 7867 person-years. RESULTS: 40 persons (9.6%) died during follow-up, 19 (8.9%) treated and 21 (10.3.%) untreated. The probability of surviving was 100% at 1 year, 97% (95% CI 95% to 99%) at 5 years, 94% (91-97) at 10 years and 91% (87-95) at 20 years in treated patients and 100%, 98% (95-100), 97% (94-99) and 89% (85-94), respectively, in untreated patients (p=0.7). After adjustment for treatment of first seizure and putative risk factors (gender, age, seizure type, previous uncertain seizures, family history of seizures, pre-, peri- and postnatal risk factors, remote aetiological factors for epilepsy, abnormal neurological examination, CT or MRI abnormalities, EEG abnormalities and acute treatment), only the presence of aetiological factors for epilepsy predicted a higher mortality (HR 3.4, 95% CI 2.5 to 4.3%; p
- Published
- 2011
28. Novelty in Inflammation and Immunomodulation in Migraine.
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Cavestro C, Ferrero M, Mandrino S, Di Tavi M, and Rota E
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- Animals, Antibodies, Monoclonal therapeutic use, Botulinum Toxins, Type A therapeutic use, Calcitonin Gene-Related Peptide, Humans, Pituitary Adenylate Cyclase-Activating Polypeptide, Immunomodulation, Inflammation physiopathology, Migraine Disorders physiopathology, Migraine Disorders therapy
- Abstract
Background: Migraine is a diffuse and disabling disease. Its pathophysiology is complex and involves both central and peripheral dysfunctions., Objective: This review will discuss the pathogenesis of migraine from the origin of the neuro-inflammatory theory, to the modern pathophysiological model and the latest therapies., Methods: PUBMED and EMBASE (up to May 2019) were searched for: migraine, inflammation, immunomodulation. An additional search was carried out from the bibliography of previous review articles., Results: Migraine was thought to be mainly a vascular disorder, according to the so-called "vascular theory". Based on animal models, a new hypothesis called "the neuro-inflammatory" was conceived at the end of the 20th century. The growing knowledge about the trigeminovascular system and its role in the inflammatory-pain pathway, allowed to identify other specific neurotransmitters, such as the Calcitonin Gene-Related Peptide and Pituitary Adenylate Cyclase-Activating Peptide. Evidence was provided that the inflammatory-pain system could become sensitised and, due to this sensitisation, the pain could also perpetuate, even in the absence of any triggers of the migraine attack. At last, brain immune cells modification during cortical spreading depression in migraine was demonstrated, along with the existence and function of the glymphatic system. The better comprehension of the immune system abnormalities allowed the development of new immunomodulating drugs: the monoclonal antibodies against the CGRP or the CGRP receptor. Moreover, new insights into the molecular mechanism of CGRP, and the function of C-fibres and Aδ-fibres, highlighted the mechanism of action of Botulinum Toxin type A in the treatment of chronic migraine., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)
- Published
- 2019
- Full Text
- View/download PDF
29. Investigating the causal association between systemic lupus erythematosus and migraine using Mendelian randomization analysis.
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Xu D and Wu B
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- Humans, Migraine Disorders genetics, Migraine Disorders epidemiology, Polymorphism, Single Nucleotide, Migraine with Aura genetics, Migraine with Aura epidemiology, Migraine without Aura genetics, Migraine without Aura epidemiology, Genetic Predisposition to Disease, Mendelian Randomization Analysis, Lupus Erythematosus, Systemic genetics, Lupus Erythematosus, Systemic complications, Lupus Erythematosus, Systemic epidemiology, Genome-Wide Association Study
- Abstract
Objective: To assess whether systemic lupus erythematosus (SLE) may be genetically causally associated with migraine, including the two primary subtypes: migraine with aura (MWA) and migraine without aura (MWoA)., Background: The association between SLE and migraine has been investigated extensively. Previous studies have shown a higher prevalence of migraine in patients with SLE, although the exact relationship remains unclear. This study investigated the potential causal association between SLE and migraine using the powerful analytical tool of Mendelian randomization (MR)., Methods: We performed two-sample MR analysis of publicly available summary statistic datasets using inverse variance-weighted (IVW), weighted median, and MR-Egger methods based on an SLE genome-wide association study (GWAS; 5201 cases; 9066 controls; the exposure frequency is 36.5%) as an exposure and migraine GWAS (15,905 cases; 264,662 controls) in individuals with European ancestry as outcomes, focusing on the two migraine subtypes MWA (6780 cases; 264,662 controls) and MWoA (5787 cases; 264,662 controls). Thepleiotropy and heterogeneity were performed., Results: We selected 42 single-nucleotide polymorphisms from SLE GWAS as instrumental variables (IVs) for SLE on migraine, and 41 SNP IVs for SLE on MWA or MWoA. The IVW (odds ratio [OR] = 1.01, 95% confidence interval [CI] = [0.99, 1.03], p = 0.271), weighted median (OR = 1.00, 95% CI = [0.97, 1.03], p = 0.914), and MR-Egger (OR = 1.04, 95% CI = [0.99, 1.09], p = 0.153) methods showed no causal effect of SLE on migraine. A causal effect of SLE was observed on MWA (IVW: OR = 1.05, 95% CI = [1.02, 1.08], p = 0.001; weighted median: OR = 1.05, 95% CI = [1.01, 1.10], p = 0.018; MR-Egger: OR = 1.07, 95% CI = [1.01, 1.14], p = 0.035 and p
IVW < 0.017 [Bonferroni correction]) but not MWoA (IVW: OR = 0.99, 95% CI = [0.96, 1.02], p = 0.331; weighted median: OR = 0.98, 95% CI = [0.94, 1.03], p = 0.496; MR-Egger: OR = 1.02, 95% CI = [0.95, 1.09], p = 0.652). The results showed no significant pleiotropy or heterogeneity., Conclusion: Our MR analysis demonstrated the complex relationship between SLE and migraine, suggesting a potential effect of SLE on the risk of MWA but not MWoA. These findings can aid in the development of improved subtype-specific management of migraine in patients with SLE., (© 2024 American Headache Society.)- Published
- 2024
- Full Text
- View/download PDF
30. Studio prospettico multicentrico dei rischi della vita quotidiana nei pazienti con epilessia
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Cavestro, C, Beghi, E, CORNAGGIA, CESARE MARIA, Cavestro, C, Beghi, E, and Cornaggia, C
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epilessia - Published
- 1993
31. Risk of cancer in patients with Guillain-Barré syndrome (GBS). A population-based study
- Author
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Vigliani, Mc, Magistrello, M, Polo, P, Mutani, Roberto, Chio', Adriano, Calvo, Andrea, Di Vito, N, Vercellino, M, Bertolotto, A, Bottacchi, E, Cocito, D, Giordana, Maria Teresa, Leone, M, Mazzini, L, Mora, G, Terreni, Aa, Schiffer, Davide, Bergamasco, Bruno, Tribolo, A, Sciolla, R, Mondino, F, Gaviani, P, Monaco, Francesco, De Mattei, M, Morgando, E, Sosso, L, Gionco, M, Morino, U, Nobili, M, Appendino, L, Piazza, D, Oddenino, E, Liboni, W, Vaulag, Ferrari, G, Favero, M, Doriguzzi Bozzo, C, Santamaria, P, Massazza, U, Bollani, E, Villani, A, Conti, R, Balzarini, C, Palermo, M, Vergnano, F, Cordera, S, Buffa, C, Penza, Mt, Fassio, F, Meineri, P, Cognazzo, A, Mocellini, C, Dutto, A, Cucatto, A, Cavestro, C, Troniw, Corso, G, and Bottacchi, E.
- Subjects
Adult ,Aged, 80 and over ,Male ,Adolescent ,Guillain-Barré syndrome ,cancer ,paraneoplastic polyneuropathy ,Middle Aged ,Guillain-Barre Syndrome ,Risk Factors ,Neoplasms ,Confidence Intervals ,Odds Ratio ,Humans ,Female ,Poisson Distribution ,Prospective Studies ,Aged ,Retrospective Studies - Abstract
The possible relationship between Guillain-Barré syndrome (GBS) and cancer is still controversial and the existence of a paraneoplastic GBS remains unconfirmed. To better define whether there is a relationship between GBS and malignancy, we compared the observed and the expected number of patients with tumours in a population-based cohort of subjects with GBS. Clinical differences between GBS patients with or without malignancies were analysed. Data were obtained from the Piemonte and Valle d'Aosta Register for GBS (PARGBS) (years 1990-1998). GBS was diagnosed according to NINCDS criteria. The number of expected cases of malignancy in the PARGBS population was calculated using the incidence rate of all types of cancer (ICD codes 140-208) in Piemonte [1985-1987], and in the most important town of this region, that is Turin (years 1993-1997). In the nine-year period, 435 incident patients with GBS were found. Nine of them developed cancer in the six months preceding or following GBS; in seven of them, the diagnosis of cancer and GBS was concomitant. The expected number of malignant tumours was 3.7 (using the incidence in Piemonte) and 3.8 (using the incidence in Turin); therefore, the odds ratios were 2.43 (95 % CI, 1.11-4.62) and 2.37 (95% CI, 1.09-4.50), respectively (p0.01). Although the cases with malignancies were clinically similar to the other cases of GBS observed through the Register, the mortality in GBS patients with cancer was higher and was the final cause of death in two patients affected by severe cancer. These results suggest a possible correlation between some cases of GBS and cancer. However, GBS in cancer patients does not meet all the criteria for paraneoplastic diseases.
- Published
- 2003
32. Validity of hospital morbidity records for amyotrophic lateral sclerosis. A population-based study
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Chio', Adriano, Ciccone, G, Calvo, Andrea, Vercellino, M, Di Vito, N, Ghiglione, Paolo, Mutani, Roberto, Plano, F, Bertolotto, A, Bottacchi, E, Cocito, D, Giordana, Maria Teresa, Leone, M, Mazzini, L, Mora, G, Terreni, A, Schiffer, D, Bergamasco, B, Rainero, Innocenzo, Tribolo, A, Sciolla, R, Mondino, F, Gaviani, P, Monaco, F, De Mattei, M, Morgando, E, Sosso, L, Gionco, M, Morino, U, Nobili, M, Appendino, L, Piazza, D, Oddenino, E, Liboni, W, Vaula, G, Ferrari, G, Favero, M, Doriguzzi Bozzo, C, Santamaria, P, Massazza, U, Bollani, E, Villani, A, Conti, R, Balzarini, C, Palermo, M, Vergnano, F, Cordera, S, Buffa, C, Penza, Mt, Fassio, F, Meineri, P, Cognazzo, A, Mocellini, C, Dutto, A, Cucatto, A, Cavestro, C, Troni, W, and Corso, G.
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Adult ,Aged, 80 and over ,Male ,Amyotrophic Lateral Sclerosis ,Middle Aged ,Sensitivity and Specificity ,Medical Records ,Patient Discharge ,Hospitalization ,Italy ,Humans ,amyotrophic lateral sclerosis ,hospital morbidity ,Female ,Forms and Records Control ,Prospective Studies ,Registries ,Aged - Abstract
The validity of discharge diagnosis of amyotrophic lateral sclerosis (ALS) and of the main procedures performed during hospitalization was assessed using as gold standard the data from the Piemonte and Valle d'Aosta Register for ALS (PARALS), a collaborative population-based registry aimed at determining prospectively the incidence and the factors related to ALS outcome. All patients discharged with ICD code 335.2 (primary and secondary diagnoses) in the period 1995-1996 in Piemonte, Italy, were considered. Out of the 1,049 cases identified, 433 remained after excluding patients not resident in Piemonte and repeated admissions. Of these, 258 had a correct diagnosis of ALS (168 incident and 90 prevalent cases) after a review of clinical records. The sensitivity of discharge diagnoses was 78.9%, and the positive predictive value was 38.8%. The sensitivity for main procedures (percutaneous endoscopic gastrostomy, noninvasive ventilation, and tracheostomy) ranged between 76 and 100%. ICD codes allowed to identify 22 cases that had not been ascertained with other sources. In conclusion, hospital discharge records appear to poorly reflect the incidence of ALS, and can be used only after clinical verification of the diagnosis.
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- 2002
33. Incidence of ALS in Italy: evidence for a uniform frequency in Western countries
- Author
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Chio, A., Terreni, A., Cucatto, A., Calvo, A., Bertolotto, A., Bottacchi, E., Cognazzo, A., Cocito, D., Giordana, Mt, Leone, M., Mazzini, L., Mora, G., Schiffer, D., Mutani, R., Bergamasco, B., Rainero, I., Tribolo, A., Sciolla, R., Mondino, F., paola gaviani, Monaco, F., Mattei, M., Morgando, E., Sosso, L., Gionco, M., Morino, U., Nobili, M., Appendino, L., Piazza, D., Oddenino, E., Liboni, W., Vaula, G., Ferrari, G., Favero, M., Bozzo, Cd, Santamaria, P., Massazza, U., Bollani, E., Villani, A., Conti, R., Balzarini, C., Palermo, M., Vergnano, F., Cordera, S., Buffa, S., Penza, Mt, Fassio, F., Meineri, P., Mocellini, C., Dutto, A., Cavestro, C., Troni, W., and Corso, G.
- Subjects
Male ,registri di popolazione ,Sclerosi laterale amiotrofica ,Incidence ,Amyotrophic Lateral Sclerosis ,Middle Aged ,epidemiologia ,Italy ,Humans ,Female ,Prospective Studies ,Neurology (clinical) ,Aged - Abstract
To determine the incidence of ALS in two regions of Northwestern Italy, utilizing a prospective design.The study was performed in Piemonte and Valle d'Aosta (4,418,503 inhabitants) during the period 1995 to 1996. All neurologic departments in the two regions were involved in the study and prospectively collected and followed up ALS cases. Other secondary sources of information were used in order to ensure complete case ascertainment. ALS diagnosis was based on El Escorial criteria. Although all patients with motor neuron disease were enrolled in the follow-up, only probable and definite cases are included in the study.During the study period, 221 cases of ALS were found (120 men and 101 women), corresponding to a mean annual crude incidence rate of 2.5/100,000 population (95% CI 2.2 to 2.9). The rate was higher for men (2.9) than for women (2.3), and increased with age to a peak in the 75 to 79 age group among men and to the 70 to 74 age group among women.Comparing these data to those of epidemiologic studies with a similar prospective design, the incidence rates are similar, despite the large differences in terms of genetics, environment, and socioeconomic background. This finding points to diffuse environmental or genetic factors rather than to a specific exogenous toxin in the pathogenesis of ALS.
- Published
- 2001
34. Antiphospholipid antibodies in epilepsy: A systematic review and meta-analysis.
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Islam MA, Alam F, Cavestro C, Calcii C, Sasongko TH, Levy RA, and Gan SH
- Subjects
- Humans, Antibodies, Antiphospholipid immunology, Epilepsy etiology, Epilepsy pathology
- Abstract
Background: Autoimmunity is believed to play an important causative role in the pathogenesis of epilepsy. There are evidences for the presence of autoantibodies in patients with epilepsy. To date, many studies have assessed the presence of antiphospholipid antibodies (aPLs) in epilepsy patients, though the relationship has been inconclusive., Aims: The aim of this systematic review and meta-analysis was to evaluate the presence of aPLs in epileptic patients as compared to healthy controls., Methods: Five electronic databases (PubMed, Web of Science, Embase, Scopus and Google Scholar) were searched systematically. Study-specific odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using random-effects model. Quality assessment was carried out by using the modified 9-star Newcastle-Ottawa Scale (NOS). L'Abbé plots were generated to visually inspect heterogeneity while publication bias was evaluated via visualization of contour- enhanced funnel plots, and Begg's and Egger's tests., Results: Based on the inclusion criteria, 14 studies were selected involving 1248 epilepsy patients and 800 healthy controls. The majority of epilepsy was categorised as generalised or partial and none had comorbidity with autoimmune diseases. Significant presence of both anticardiolipin (aCL) antibodies (OR: 5.16, 95% CI: 3.21-8.28, p < 0.00001) and anti-β2- glycoprotein I (anti-β2-GPI) antibodies (OR: 2.95, 95% CI: 1.07-8.11, p = 0.04) exhibited comorbid association with epilepsy patients as compared to healthy controls. Subgroup analyses revealed that presence of aCL antibodies was more specifically observed in paediatrics (OR: 4.57, 95% CI: 2.57-8.15, p < 0.00001) than adults (OR: 4.24, 95% CI: 1.80-10.01, p = 0.001). The odds of aCL antibody presence was higher in partial epilepsy patients (OR: 7.88, 95% CI: 3.23-19.24, p < 0.00001) than that of generalised (OR: 3.76, 95% CI: 2.15-6.59, p < 0.00001) and in Asian epileptic patients (OR: 9.56, 95% CI: 2.69-33.95, p = 0.0005) than Europeans (OR: 4.35, 95% CI: 2.74-6.92, p < 0.00001). The presence of anti-β2-GPI antibodies was significant in paediatric (OR: 6.44, 95% CI: 1.39-29.89, p = 0.02) and African population with epilepsies (OR: 10.59, 95% CI: 1.22-92.25, p = 0.03). NOS of the majority of the studies (11/14) indicated a high methodological quality. No substantial heterogeneity was observed either from the quantitative analysis or from the L'Abbé plots while no significant publication bias was detected from funnel plots; Begg's and Egger's tests., Conclusion: Since none of the epilepsy subjects exhibited any comorbid autoimmune disorders, significant presence of aCL and anti-β2-GPI antibodies indicate towards their contribution in immune-mediated general pathogenesis of epilepsy., (Copyright © 2018. Published by Elsevier B.V.)
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- 2018
- Full Text
- View/download PDF
35. Coexistence of antiphospholipid antibodies and cephalalgia.
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Islam MA, Alam F, Gan SH, Cavestro C, and Wong KK
- Subjects
- Adult, Antiphospholipid Syndrome epidemiology, Comorbidity, Female, Headache complications, Humans, Lupus Erythematosus, Systemic epidemiology, Male, Middle Aged, Antibodies, Antiphospholipid blood, Headache blood, Headache immunology
- Abstract
Background The occurrence of antiphospholipid antibodies (aPLs) and headache comorbidity in the presence or absence of underlying autoimmune diseases remains unclear. Aim The aim of this review was to summarize the relationship between headache and aPLs based on evidences from cohort studies and case reports, in addition to examining the treatment strategies that resolved headache in aPLs-positive individuals. Methods A comprehensive literature search was conducted through PubMed, ISI Web of Science and Google Scholar. A total of 559 articles were screened and the appropriate articles were selected based on quality and level of evidence. Results Cohort studies (n = 27) from Europe, North America and Asia demonstrated comorbidity of aPLs and headache in antiphospholipid syndrome, systemic lupus erythematosus (SLE) and neuropsychiatric SLE patients. Significantly higher association between migraine and aPLs was observed (n = 170/779; p < 0.0001) in individuals without any underlying diseases. Our analysis of shortlisted case reports (n = 17) showed that a higher frequency of anticardiolipin antibodies were present in subjects with different autoimmune disorders (70.6%). Corticosteroids were highly effective in resolving headache in aPLs-positive individuals. Conclusion Higher frequency of comorbidity between aPLs and headache was observed in healthy individuals and patient cases. Therefore, experimental studies are warranted to evaluate the aPLs-induced pathogenic mechanism of headache.
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- 2018
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36. Alpha-Lipoic Acid Shows Promise to Improve Migraine in Patients with Insulin Resistance: A 6-Month Exploratory Study.
- Author
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Cavestro C, Bedogni G, Molinari F, Mandrino S, Rota E, and Frigeri MC
- Subjects
- Adult, Biomarkers blood, Blood Glucose analysis, Cohort Studies, Combined Modality Therapy, Female, Follow-Up Studies, Glucose Tolerance Test, Humans, Hyperinsulinism blood, Hyperinsulinism complications, Hyperinsulinism metabolism, Insulin blood, Male, Middle Aged, Migraine with Aura complications, Migraine with Aura physiopathology, Migraine with Aura therapy, Migraine without Aura complications, Migraine without Aura physiopathology, Migraine without Aura therapy, Outpatient Clinics, Hospital, Severity of Illness Index, Antioxidants therapeutic use, Hyperinsulinism diet therapy, Insulin Resistance, Migraine with Aura diet therapy, Migraine without Aura diet therapy, Thioctic Acid therapeutic use
- Abstract
Alpha-lipoic acid (ALA) is known to lower insulin resistance (IR), which is common among migraineurs. To assess the effect of ALA on headache in migraineurs with IR, we performed an exploratory study on a cohort of patients with migraine, followed at our Headache Center. The 32 patients took ALA 400 mg b.i.d. for 6 months in addition to their on-going treatment. The percentage of patients with a reduction of at least 50% of the attacks was 0.53 (confidence interval [95% CI] 0.36-0.70) at 2 months, 0.56 (0.39-0.73) at 4 months, and 0.69 (0.53-0.85) at 6 months. The incidence rate ratio of attacks at 6 months versus baseline was 0.48 (0.43-0.53, P < .001), corresponding to a mean (95% CI) number of attacks of 5 (4-6) versus 11 (10-12). The number of days of treatment in the previous month was 7.7 (6.8-8.7) at baseline, 5.4 (4.6-6.2) at 2 months, 5.3 (4.5-6.1) at 4 months, and 4.3 (3.6-5.0) at 6 months. Baseline and 120-min glucose and insulin and quantitative insulin sensitivity check index (QUICKI) and the Stumvoll index did not change at 6 months versus baseline. This exploratory study shows that the administration of ALA may be associated with a reduction in the number of attacks and the days of treatment in migraineurs with IR. A randomized controlled trial is needed to test this possibility.
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- 2018
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37. Migraine in Systemic Autoimmune Diseases.
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Cavestro C and Ferrero M
- Subjects
- Animals, Antiphospholipid Syndrome immunology, Antiphospholipid Syndrome physiopathology, Autoimmune Diseases immunology, Connective Tissue Diseases immunology, Connective Tissue Diseases physiopathology, Endothelium, Vascular immunology, Humans, Migraine Disorders diagnosis, Migraine Disorders immunology, Migraine Disorders physiopathology, Migraine with Aura diagnosis, Migraine with Aura etiology, Migraine with Aura immunology, Migraine with Aura physiopathology, Practice Guidelines as Topic, Severity of Illness Index, Sjogren's Syndrome immunology, Sjogren's Syndrome physiopathology, Autoimmune Diseases physiopathology, Endothelium, Vascular physiopathology, Migraine Disorders etiology
- Abstract
Background and Objective: Migraine and systemic autoimmune diseases are 2-3-fold more common in women and various studies have reported an association between the two pathologies., Methods: This review takes into account epidemiological studies involving migraine and systemic lupus erythematosus, antiphospholipid syndrome, Sjogren's syndrome, and other diffuse connective tissue diseases. This scientific literature analysis consists of the main articles found in Medline with a search up to April 2017., Results: Many epidemiological studies were carried out on patients suffering from systemic lupus erythematosus. Results showed that headache and migraine are more prevalent in systemic lupus erythematosus patients compared to controls, especially migraine with aura. Patients with Lupus and migraine show a higher lupus activity and association with Raynaud and/or antiphospholipids in these populations are contradictory. There are not enough data to establish an association between antiphospholipid syndrome and migraine. However, data are more consistent between antiphospholipid carrier condition and migraine. Systemic sclerosis is a rare disease, for this reason the amount of available data on this disorder are scanty. However, some studies reported an association between headache, migraine and systemic sclerosis, especially where gliotic brain lesions and Raynaud are coexisting. Finally, large propensity cohort population based studies suggested that systemic autoimmune diseases are more frequent in patients suffering from migraine., Conclusion: An attempt at explaining the possible link between these disorders and migraine is discussed at the end of the review. Several autoimmune alterations are shared by most autoimmune diseases and headache types. Endothelial dysfunction is the only alteration that is common among all these disorders., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.)
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- 2018
- Full Text
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38. Idrocefalo post-traumatico in pazienti non acuti: analisi casistica di reparto
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Feller S and Cavestro C
- Published
- 1997
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39. Post-traumatic vegetative state; prognosis and problems with complications and rehabilitative therapy
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Feller S, Cavestro C, and Chierici S
- Published
- 1997
- Full Text
- View/download PDF
40. Peculiarità cistomanometriche nello stato vegetativo persistente
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Benecchi L, Caldera GL, Cavestro C, Bordinazzo R, Privitera O, and Chierici S
- Published
- 1996
- Full Text
- View/download PDF
41. Post-traumatic persistent vegetative state
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Cavestro C, Feller S, Chierici S, Tedesco L, and Benecchi L
- Published
- 1996
- Full Text
- View/download PDF
42. Neurological bladder in the post-comatose state
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Cavestro C, Feller S, Benecchi L, Caldera G, Chierici S, Bordinazzo R, and Privitera O
- Published
- 1996
- Full Text
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43. I presidi antidecubito: quali e a quali costi
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Chierici S, Feller S, Conti R, and Cavestro C
- Published
- 1996
- Full Text
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44. Ulcere da decubito e neurodistrofiche
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Feller S, Conti R, Chierici S, and Cavestro C
- Published
- 1996
- Full Text
- View/download PDF
45. Descrizione di una divisione di rieducazione neuromotoria con unità sub-intensiva coma
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Feller S, Chierici S, and Cavestro C
- Published
- 1995
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46. Vesciche neurologiche in pazienti con pregresso stato di coma grave
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Feller S, Cavestro C, Chierici S, Caldera G, Benecchi L, and Privitera O
- Published
- 1995
- Full Text
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47. Small fibre involvement in neuropathy associated with IgG, IgA and IgM monoclonal gammopathy
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Barbieri, S., Sandroni, P., Nobile-Orazio, E., Cappellari, A., Cavestro, C., Luca Baldini, and Scarlato, G.
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Male ,Nerve Fibers ,Immunoglobulin M ,Immunoglobulin G ,Neural Conduction ,Paraproteinemias ,Humans ,Female ,Middle Aged ,Nervous System Diseases ,Aged ,Immunoglobulin A - Abstract
A delta and C fibre function has been investigated in 18 patients affected by neuropathies associated with monoclonal gammopathies. Warm, cold and heat pain thresholds have been determined by means of a Somedic Thermotest, operating on the Peltier principle, in a room at constant temperature. Our results indicate that: 1) there is an involvement of A delta and C fibres in these neuropathies that might be difficult to quantitate only on clinical grounds 2) in IgG and IgA patients, all affected by a subclinical or mild axonal neuropathy, small fibres of both types are always involved 3) in IgM anti-MAG positive severe cases, A delta fibre involvement, suggestive of demyelination is evident, while in one anti-MAG negative patient only C fibres are damaged, probably reflecting a different pathogenetic mechanism.
- Published
- 1995
48. Anatomical Variants of the Circle of Willis and Brain Lesions in Migraineurs
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Cavestro, C., primary, Richetta, L., additional, L'Episcopo, M. R., additional, Pedemonte, E., additional, Duca, S., additional, and Di Pietrantonj, C., additional
- Published
- 2011
- Full Text
- View/download PDF
49. Post-comatose cystomanometric peculiarities
- Author
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Benecchi, L., primary, Caldera, G.L., additional, Cavestro, C., additional, Bordinazzo, R., additional, Privitera, O., additional, and Feller, S., additional
- Published
- 1996
- Full Text
- View/download PDF
50. Iron administered in the neonatal period changed memory, brain monoamine levels, and BDNF mRNA expression in adult Sprague–Dawley rats.
- Author
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Rogóż, Zofia, Kamińska, Kinga, Lorenc-Koci, Elżbieta, and Wąsik, Agnieszka
- Published
- 2024
- Full Text
- View/download PDF
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