605 results on '"Cocozza S"'
Search Results
2. MR Imaging Signs of Gadolinium Retention Are Not Associated with Long-Term Motor and Cognitive Outcomes in Multiple Sclerosis
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Scaravilli, A., primary, Tranfa, M., additional, Pontillo, G., additional, Falco, F., additional, Criscuolo, C., additional, Moccia, M., additional, Monti, S., additional, Lanzillo, R., additional, Brescia Morra, V., additional, Palma, G., additional, Petracca, M., additional, Tedeschi, E., additional, Elefante, A., additional, Brunetti, A., additional, and Cocozza, S., additional
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- 2023
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3. The influence of interoceptive awareness on functional connectivity in patients with irritable bowel syndrome
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Longarzo, Mariachiara, Quarantelli, M., Aiello, M., Romano, M., Del Prete, A., Cimminiello, C., Cocozza, S., Olivo, G., Loguercio, C., Trojano, L., and Grossi, D.
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- 2017
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4. Paleopathological Approach to the Study of a Christian Relic: The Case of the Blessed Maria Lorenza Longo|PALEOPATOLOŠKI PRISTUP PROUČAVANJU KRŠĆANSKE RELIKVIJE: SLUČAJ BLAŽENE MARIJE LORENZE LONGO
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Traversari M., Ventura L., Cilli E., Luiselli D., Troncone G., Brunetti A., Cocozza S., Petrella E., N. M. Feeney R., Bellevicine C., Traversari M., Ventura L., Cilli E., Luiselli D., Troncone G., Brunetti A., Cocozza S., Petrella E., N.M. Feeney R., and Bellevicine C.
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paleoanthropology, paleoradiology, paleopathology, relics, neurosyphilis - Abstract
The Blessed Maria Lorenza Longo, founder of the hospital of Santa Maria del Popolo degli Incurabili and the Order of the Capuchin Poor Clares in Naples, Italy, died on 21 October 1539 and was recently beatified on 9 October 2021. The relic, a fully skeletonized cranium, underwent visual and radiological inspection. The biological profile supports the attribution of female sex of the relic, whereas the age at death is estimated to be younger than that reported by historians. A paleopathological survey was conducted to evaluate the historical reports of poisoning or rheumatoid arthritis affecting Maria Longo. Given the limited skeletal data, it was not possible to confirm the presence of these claims. No obvious indicators of dietary deficiencies were observed, and the tertiary syphilis hypothesized by textual sources was excluded. Postmortem alterations of the relic were clearly visible on the superior aspect of the cranium and testified to the worship of the relic.
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- 2022
5. The energy intake modulates the association of the –55CT polymorphism of UCP3 with body weight in type 2 diabetic patients
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Lapice, E, Monticelli, A, Cocozza, S, Pinelli, M, Giacco, A, Rivellese, A A, Cocozza, S, Riccardi, G, and Vaccaro, O
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- 2014
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6. Quantitative MRI in Multiple Sclerosis: From Theory to Application
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Tranfa, M., primary, Pontillo, G., additional, Petracca, M., additional, Brunetti, A., additional, Tedeschi, E., additional, Palma, G., additional, and Cocozza, S., additional
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- 2022
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7. C83 USE OF CANGRELOR IN A 63 YEARS OLD MEN SUFFERING FROM ACUTE INFERIOR ST–ELEVATION MYOCARDIAL INFARCTION AND SEVERE IDIOPATHIC THROMBOCYTOPENIC PURPURA: A CASE REPORT
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Cocozza, S, primary, Formigli, D, additional, Parente, A, additional, Pirozzi, E, additional, Franco, V, additional, Moscato, F, additional, Amico, V, additional, Vallone, R, additional, and Scherillo, M, additional
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- 2022
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8. A multicentric investigation of the diagnostic accuracy of cortical lesions and central vein sign in multiple sclerosis
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Cagol, A., Cortese, R., Barakovic, M., Schaedelin, S., Ruberte, E., Absinta, M., Barkhof, F., Calabrese, M., Marco Castellaro, Ciccarelli, O., Cocozza, S., Stefano, N., Enzinger, C., Filippi, M., Jurynczyk, M., Maggi, P., Mahmoudi, N., Montalban, X., Palace, J., Pontillo, G., Rocca, M. A., Ropele, S., Rovira, A., Schoonheim, M. M., Sowa, P., Strijbis, E., Wattjes, M. P., Wuerfel, J., Kappos, L., and Granziera, C.
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- 2022
9. Identification of C12orf4 as a gene for autosomal recessive intellectual disability
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Philips, A.K., Pinelli, M., de Bie, C.I., Mustonen, A., Määttä, T., Arts, H.H., Wu, K., Roepman, R., Moilanen, J.S., Raza, S., Varilo, T., Scala, G., Cocozza, S., Gilissen, C., van Gassen, K.L.I., and Järvelä, I.
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- 2017
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10. Grey: white matter ratio at diagnosis and the risk of 10‐year multiple sclerosis progression
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Moccia, M., Quarantelli, M., Lanzillo, R., Cocozza, S., Carotenuto, A., Carotenuto, B., Alfano, B., Prinster, A., Triassi, M., Nardone, A., Palladino, R., Brunetti, A., and Brescia Morra, V.
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- 2017
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11. Altered resting-state functional connectivity in the dorsal attention network in treatment-resistant schizophrenia
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Barone, A., Iasevoli, F., Francesco, D. Notar, Ciccarelli, M., Vellucci, L., Pontillo, G., Cocozza, S., Brunetti, A., and de Bartolomeis, A.
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- 2022
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12. Ultra-deep dna methylation analysis of x-linked genes: Gla and ar as model genes [*De Riso G., Cuomo M co-primi autori]
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De Riso G., Cuomo M., Di Risi T., Monica R. D., Buonaiuto M., Costabile D., Pisani A., Cocozza S., Chiariotti L., De Riso, G., Cuomo, M., Di Risi, T., Monica, R. D., Buonaiuto, M., Costabile, D., Pisani, A., Cocozza, S., and Chiariotti, L.
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Allele ,Fabry disease ,Chromosomes, Human, X ,Heterozygote ,DNA methylation ,Epiallele analysi ,Skewness X-inactivation ,X-linked gene ,Genes, X-Linked ,Receptors, Androgen ,X Chromosome Inactivation ,alpha-Galactosidase ,Female ,CpG Island ,Human - Abstract
Recessive X-linked disorders may occasionally evolve in clinical manifestations of variable severity also in female carriers. For some of such diseases, the frequency of the symptoms’ appearance during women’s life may be particularly relevant. This phenomenon has been largely attributed to the potential skewness of the X-inactivation process leading to variable phenotypes. Nonetheless, in many cases, no correlation with X-inactivation unbalance was demonstrated. However, methods for analyzing skewness have been mainly limited to Human Androgen Receptor methylation analysis (HUMARA). Recently, the X-inactivation process has been largely revisited, highlighting the heterogeneity existing among loci in the epigenetic state within inactive and, possibly, active X-chromosomes. We reasoned that gene-specific and ultra-deep DNA methylation analyses could greatly help to unravel details of the X-inactivation process and the roles of specific X genes inactivation in disease manifestations. We recently provided evidence that studying DNA methylation at specific autosomic loci at a single-molecule resolution (epiallele distribution analysis) allows one to analyze cell-to-cell methylation differences in a given cell population. We here apply the epiallele analysis at two X-linked loci to investigate whether females show allele-specific epiallelic patterns. Due to the high potential of this approach, the method allows us to obtain clearly distinct allele-specific epiallele profiles.
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- 2020
13. Cocozza S, Sacco PL, Tramontano D. Well-being and resilience at the Air Force Academy of Pozzuoli. Ital J Aerosp Med 2020; 1:41-50 Per la rivista: ISSN 2279-8994, LCCN 2013243264, NLM 101604374. Codice ANCE E202556
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Cocozza S, Sacco PL, Tramontano D., Cocozza, S, Sacco, Pl, and Tramontano, D.
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subjective well-being, resilience, military environments, cohesion - Abstract
Military personnel are systematically exposed to a variety of stressors throughout their career. Well-being and resilience are two important features for maintaining normal human functioning, in particular when facing traumatic and stressful life events, thus the study of psychological well-being and resilience in the military context is attracting great interest. In many countries, along with personality variables, psychological well-being has been among the individual differentiating factors considered in the selection and screening of military personnel. In addition, to enhance emotional well-being and to build resilience of service members is the goal of specifically designed programs of military organizations. Within this context, the sector of Military Academies, where military personnel receive their core training, is an interesting field to study such concepts. We have explored the implications of military training in terms of well-being and resilience at the Italian Air Force Academy (AFA) of Pozzuoli –Naples. Our results indicate that both cadets and staff at the AFA of Pozzuoli display high levels of both well-being and resilience compared to a matched civilian population. Of particular interest is the observation in the AFA population lacks of gender gap, in favor of male, either in well-being or in resilience.
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- 2020
14. The role of Central Vein Sign in the differential diagnosis between Multiple Sclerosis and Fabry Disease
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Tranfa, Mario, primary, Tortora, Mario, primary, PONTILLO, GIUSEPPE, primary, Virginia Iuzzolino, Valentina, primary, Riccio, E., primary, Brescia Morra, V., primary, Petracca, M., primary, Cocozza, S., primary, and Brunetti, Arturo, primary
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- 2021
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15. A Combined Radiomics and Machine Learning Approach to Overcome the Clinicoradiologic Paradox in Multiple Sclerosis
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Pontillo, G., primary, Tommasin, S., additional, Cuocolo, R., additional, Petracca, M., additional, Petsas, N., additional, Ugga, L., additional, Carotenuto, A., additional, Pozzilli, C., additional, Iodice, R., additional, Lanzillo, R., additional, Quarantelli, M., additional, Brescia Morra, V., additional, Tedeschi, E., additional, Pantano, P., additional, and Cocozza, S., additional
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- 2021
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16. Unraveling Deep Gray Matter Atrophy and Iron and Myelin Changes in Multiple Sclerosis
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Pontillo, G., primary, Petracca, M., additional, Monti, S., additional, Quarantelli, M., additional, Criscuolo, C., additional, Lanzillo, R., additional, Tedeschi, E., additional, Elefante, A., additional, Brescia Morra, V., additional, Brunetti, A., additional, Cocozza, S., additional, and Palma, G., additional
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- 2021
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17. Interactive data analysis and clustering of genomic data
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Ciaramella, A., Cocozza, S., Iorio, F., Miele, G., Napolitano, F., Pinelli, M., Raiconi, G., and Tagliaferri, R.
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- 2008
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18. A pathogenetic classification of hereditary ataxias: Is the time ripe?
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De Michele, G., Coppola, G., Cocozza, S., and Filla, A.
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- 2004
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19. Diffuse brain connectivity changes in Charcot–Marie–Tooth type 1a patients: a resting‐state functional magnetic resonance imaging study
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Pontillo, G., primary, Tozza, S., additional, Perillo, T., additional, Cocozza, S., additional, Dubbioso, R., additional, Severi, D., additional, Iodice, R., additional, Tedeschi, E., additional, Elefante, A., additional, Brunetti, A., additional, Manganelli, F., additional, and Quarantelli, M., additional
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- 2020
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20. A pathogenetic classification of hereditary ataxias: Is the time ripe?
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Michele, G., Coppola, G., Cocozza, S., and Filla, A.
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Cerebellar ataxia -- Genetic aspects ,Cerebellar ataxia -- Identification and classification ,Cerebellar ataxia -- Research ,Linkage (Genetics) -- Research ,Health - Abstract
Byline: G. Michele (1), G. Coppola (1), S. Cocozza (2), A. Filla (1) Keywords: hereditary ataxias; classification; pathogenesis Abstract: Abstract. Harding's classification takes credits for defining the homogeneous phenotypes that have been essential for the genetic linkage studies and it is still useful for didactic purposes. The advances in pathogenetic knowledge make it now possible to modify Harding's classification. Five main pathogenetic mechanisms may be distinguished: 1) mitochondrial 2) metabolic 3) defective DNA repair 4) abnormal protein folding and degradation 5) channelopathies. The present attempt to classify ataxia disorders according to their pathogenetic mechanism is a work in progress, since the pathogenesis of several disorders is still unknown. A pathogenetic classification may be useful in clinical practice and when new therapeutic strategies become available. Author Affiliation: (1) Dipartimento di Scienze Neurologiche, Universita degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy (2) Molecular and Cellular Biology and Pathology and CEOS, CNR Federico II University, Naples, Italy Article History: Registration Date: 01/01/2004 Received Date: 19/03/2004 Accepted Date: 23/03/2004
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- 2004
21. Friedreich's ataxia: from the patient to the gene
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Filla, A., Cocozza, S., and De Michele, G.
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- 2001
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22. The combination of UCP3–55CT and PPARγ2Pro12Ala polymorphisms affects BMI and substrate oxidation in two diabetic populations
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LAPICE, EMANUELA, COCOZZA, SARA, PINELLI, MICHELE, GIACCO, ANGELA, RIVELLESE, ANGELA ALBAROSA, RICCARDI, GABRIELE, VACCARO, OLGA, Monticelli, A., Massimino, E., Cocozza, S., Riccardi, G., Vaccaro, O., Lapice, Emanuela, Monticelli, A., Cocozza, Sara, Pinelli, Michele, Massimino, E., Giacco, Angela, Rivellese, ANGELA ALBAROSA, Riccardi, Gabriele, Vaccaro, Olga, Cocozza, S., Riccardi, G., and Vaccaro, O.
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Male ,0301 basic medicine ,Cross-sectional study ,Endocrinology, Diabetes and Metabolism ,Medicine (miscellaneous) ,Type 2 diabetes ,Weight Gain ,Type 2 diabete ,Body Mass Index ,0302 clinical medicine ,Gene Frequency ,Genotype ,Nutrition and Dietetic ,Uncoupling Protein 3 ,Aged, 80 and over ,Genetics ,education.field_of_study ,Nutrition and Dietetics ,Homozygote ,Middle Aged ,Phenotype ,Female ,medicine.symptom ,Cardiology and Cardiovascular Medicine ,Oxidation-Reduction ,Adult ,Heterozygote ,medicine.medical_specialty ,Population ,030209 endocrinology & metabolism ,Biology ,BMI ,03 medical and health sciences ,Internal medicine ,Dietary Carbohydrates ,medicine ,Humans ,Genetic Predisposition to Disease ,Obesity ,Polymorphism ,education ,Allele frequency ,Genetic Association Studies ,Aged ,Polymorphism, Genetic ,medicine.disease ,Dietary Fats ,PPAR gamma ,Cross-Sectional Studies ,030104 developmental biology ,Endocrinology ,Diabetes Mellitus, Type 2 ,Energy Metabolism ,Body mass index ,Weight gain - Abstract
BACKGROUND AND AIM: To evaluate the combined contribution of UCP3-55CT and PPAR?2 Pro12Ala polymorphisms as correlates of BMI, energy expenditure (REE) and substrate oxidation in people with type 2 diabetes. METHODS AND RESULTS: Two independent population with type 2 diabetes were studied: population A, n = 272; population B, n = 269. Based on both UCP3 and PPAR?2 genotypes three groups were created. Carriers of the PPAR?2 Pro12Ala in combination with the CC genotype of UCP3 (ProAla/CC, group 1); carriers of only one of these genotypes (either CC/ProPro or CT-TT/ProAla, group 2); people with neither variants (CT-TT/ProPro, group 3). In both populations BMI (kg/m(2)) was highest in group 1, intermediate in group 2 and lowest in group 3, independent of energy intake (i.e 35.3 ± 6.7 vs 33.4 ± 5.4 vs 31.8 ± 3, p < 0.02, population A; 32.4 ± 4.2 vs 31.7 ± 3.8 vs 30.1 ± 2.7; p < 0.03, population B). People with the ProAla/CC genotype (group 1) showed similar REE, but lower lipid oxidation (10.9 vs 13.9 g/kg fat free mass/day; p = 0.04) and higher carbohydrate oxidation (23.6 vs 15.6 g/kg fat free mass/day; p = 0.02) than carriers of other genotypes. CONCLUSIONS: The combination of UCP3-55 CC and PPAR?2 Pro12Ala genotypes is associated with significantly higher BMI than other PPAR?2-UCP3 genotype combinations, partly due to a reduced ability in lipids oxidation. The relative importance of these mechanism(s) may be different in non diabetic people. Copyright © 2016 The Italian Society of Diabetology, the Italian Society for the Study of Atherosclerosis, the Italian Society of Human Nutrition, and the Department of Clinical Medicine and Surgery, Federico II University. Published by Elsevier B.V. All rights reserved.
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- 2016
23. Polyphenol intake and cardiovascular risk factors in a population with type 2 diabetes: The TOSCA.IT study
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Vitale M, Vaccaro O, Masulli M, Bonora E, Del Prato S, Giorda CB, Nicolucci A, Squatrito S, AUCIELLO, STEFANIA MICHELA, Babini AC, Bani L, Buzzetti R, Cannarsa E, Cignarelli M, Cigolini M, Clemente G, Cocozza S, Corsi L, D'Angelo F, Dall'Aglio E, Di Cianni G, Fontana L, Gregori G, Grioni S, Giordano C, Iannarelli R, Iovine C, Lapolla A, Lauro D, Laviola L, Mazzucchelli C, Signorini S, Tonutti L, TREVISAN, MARCO, Zamboni C, Riccardi G, Rivellese AA, TOSCA. IT Study Group, Vitale, M, Vaccaro, O, Masulli, M, Bonora, E, Del Prato, S, Giorda, C, Nicolucci, A, Squatrito, S, Auciello, S, Babini, A, Bani, L, Buzzetti, R, Cannarsa, E, Cignarelli, M, Cigolini, M, Clemente, G, Cocozza, S, Corsi, L, D'Angelo, F, Dall'Aglio, E, Di Cianni, G, Fontana, L, Gregori, G, Grioni, S, Giordano, C, Iannarelli, R, Iovine, C, Lapolla, A, Lauro, D, Laviola, L, Mazzucchelli, C, Signorini, S, Tonutti, L, Trevisan, R, Zamboni, C, Riccardi, G, Rivellese, A, Giorda, Cb, Auciello, STEFANIA MICHELA, Babini, Ac, Trevisan, Marco, Rivellese, Aa, Tosca., IT Study Group, Bonora, E, Del Prato, S, Giorda, CB, Nicolucci, A, Squatrito S, Auciello S, Babini AC, Bani L, Buzzetti R, Cannarsa E, Cignarelli M, Cigolini M, Clemente G, Cocozza S, Corsi L, D'Angelo F, Dall'Aglio E, Di Cianni G, Fontana L, Gregori G, Grioni S, Giordano C, Iannarelli R, Iovine C, Lapolla A, Lauro D, Laviola L, Mazzucchelli C, Signorini S, Tonutti L, Trevisan R, Zamboni C, Riccardi G, Rivellese AA, and TOSCA.IT Study Group
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Male ,0301 basic medicine ,Physiology ,Type 2 diabetes ,030204 cardiovascular system & hematology ,Critical Care and Intensive Care Medicine ,Settore MED/13 - Endocrinologia ,chemistry.chemical_compound ,0302 clinical medicine ,Dietary polyphenols,Flavonoids,Phenolic acids,Cardiovascular risk,Type 2 diabetes,LOW-GRADE INFLAMMATION,BLOOD-PRESSURE,DIETARY POLYPHENOLS,DARK CHOCOLATE,INSULIN SENSITIVITY,RANDOMIZED-TRIALS,DISEASE,METAANALYSIS,METABOLISM,CHOLESTEROL ,Risk Factors ,Surveys and Questionnaires ,Hydroxybenzoates ,Prospective Studies ,Food science ,Cardiovascular risk ,Dietary polyphenols ,Flavonoids ,Phenolic acids ,education.field_of_study ,Phenolic acid ,Nutrition and Dietetics ,biology ,food and beverages ,Dietary polyphenol ,Middle Aged ,European Prospective Investigation into Cancer and Nutrition ,Cardiovascular Diseases ,Female ,Population ,Cardiovascular risk, Dietary polyphenols, Flavonoids, Phenolic acids, Type 2 diabetes ,03 medical and health sciences ,Diabetes mellitus ,medicine ,Humans ,education ,Triglycerides ,Aged ,030109 nutrition & dietetics ,Dose-Response Relationship, Drug ,business.industry ,Cholesterol, HDL ,C-reactive protein ,Polyphenols ,Cholesterol, LDL ,Anthropometry ,medicine.disease ,Diet ,Cross-Sectional Studies ,Nutrition Assessment ,Diabetes Mellitus, Type 2 ,chemistry ,Flavonoid ,biology.protein ,Glycated hemoglobin ,business ,Body mass index - Abstract
Background: The role of polyphenol intake on cardiovascular risk factors is little explored, particularly in people with diabetes. Aim: To evaluate the association between the intake of total polyphenols and polyphenol classes with the major cardiovascular risk factors in a population with type 2 diabetes. Methods: Dietary habits were investigated in 2573 males and females participants of the TOSCA.IT study. The European Prospective Investigation on Cancer and Nutrition (EPIC) questionnaire was used to assess dietary habits. In all participants, among others, we assessed anthropometry, plasma lipids, blood pressure, C-reactive protein and HbA1c following a standard protocol. The USDA and Phenol-Explorer databases were used to estimate the polyphenol content of the habitual diet. Results: Average intake of polyphenols was 683.3 ± 5.8 mg/day. Flavonoids and phenolic acids were the predominant classes (47.5% and 47.4%, respectively). After adjusting for potential confounders, people with the highest intake of energy-adjusted polyphenols (upper tertile) had a more favorable cardiovascular risk factors profile as compared to people with the lowest intake (lower tertile) (BMI was 30.7 vs 29.9 kg/m2, HDL-cholesterol was 45.1 vs 46.9 mg/dl, LDL-cholesterol was 103.2 vs 102.1 mg/dl, triglycerides were 153.4 vs 148.0 mg/dl, systolic and diastolic blood pressure were respectively 135.3 vs 134.3 and 80.5 vs 79.6 mm/Hg, HbA1c was 7.70 vs 7.67%, and C-reactive Protein was 1.29 vs 1.25 mg/dl, p < .001 for all). The findings were very similar when the analysis was conducted separately for flavonoids or phenolic acids, the two main classes of polyphenols consumed in this population. Conclusions: Polyphenol intake is associated with a more favorable cardiovascular risk factors profile, independent of major confounders. These findings support the consumption of foods and beverages rich in different classes of polyphenols particularly in people with diabetes. Clinical trial: . http://www.clinicaltrials.gov; Study ID number: . NCT00700856. © 2016 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism.
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- 2017
24. Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families
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Filla, A., De Michele, G., Santoro, L., Calabrese, O., Castaldo, I., Giuffrida, S., Restivo, D., Serlenga, L., Condorelli, D. F., Bonuccelli, U., Scala, R., Coppola, G., Caruso, G., and Cocozza, S.
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- 1999
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25. Role of type 2 diabetes mellitus in nonalcoholic fatty liver disease
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Bozzetto, L., Prinster, A., Cocozza, S., Rivellese, A. A., and Annuzzi, G.
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- 2011
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26. The Development of Subcortical Gray Matter Atrophy in Multiple Sclerosis: One Size Does Not Fit All
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Pontillo, G., primary, Petracca, M., additional, Cocozza, S., additional, and Brunetti, A., additional
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- 2020
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27. 433 Independent impact of metabolic syndrome on left ventricular longitudinal dysfunction in type 2 diabetes mellitus
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Casciano, O, primary, Luciano, F, additional, Cocozza, S, additional, Sorrentino, R, additional, Lembo, M, additional, Sellitto, V, additional, Santoro, C, additional, Esposito, R, additional, Rivellese, A, additional, and Galderisi, M, additional
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- 2020
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28. The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families
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Lieto, M., primary, Riso, V., additional, Galatolo, D., additional, De Michele, G., additional, Rossi, S., additional, Barghigiani, M., additional, Cocozza, S., additional, Pontillo, G., additional, Trovato, R., additional, Saccà, F., additional, Salvatore, E., additional, Tessa, A., additional, Filla, A., additional, Santorelli, F. M., additional, and Silvestri, G., additional
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- 2019
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29. Cerebellar ataxia, hypogonadism and chorioretinopathy: molecular analysis of an Italian family
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Rizzi, R., Carelli, V., Monari, L., Mochi, M., Liguori, R., Sensi, M., Cocozza, S., Filla, A., and Montagna, P.
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- 1998
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30. DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients
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Castaldo, I, Pinelli, M, Monticelli, A, Acquaviva, F, Giacchetti, M, Filla, A, Sacchetti, S, Keller, S, Avvedimento, V E, Chiariotti, L, and Cocozza, S
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- 2008
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31. Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain: Abstracts of Symposia and free communications
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Harms, L., Bock, A., JÄnisch, W., Valdueza, J., Weber, J., Link, I., De Keyser, J., Goossens, A., Wilczak, N., Vedeler, C., Bjorge, L., Uvestad, E., Conti, G., Williams, K., Ginsberg, L., Rafique, S., Rapoport, S. I., Gershfeld, N. L., De La Meilleure, G., Crevits, L., Faiss, J. H., Heye, N., Blanke, J., Sackmann, A., Kastrup, O., Doornbos, R., van der Worp, H. B., Kappelle, L. J., Bar, P. R., Davie, C. A., Barker, G. J., Brenton, D., Miller, D. H., Thompson, A. J., Block, F., Schwarz, M., Delodovici, L., Baruzzi, F., Bonaldi, G., Dario, A., Marra, A., Mercuri, A., Dworzak, F., Cavallari, P., Confalonieri, P., Zuffi, M., Antozzi, C., Cornelio, F., Baldissera, F., Chassande, B., Ameri, A., Eymard, B., Poisson, M., Vérier, A., Brunet, P., Congia, S., Murgia, P. L., Cannas, A., Borghero, G., Uselli, S., Mellino, G., Ferrai, R., Lampis, R., Massa, R., Muzzetto, B., Giannini, F., Rossi, S., Cioni, R., d'Aniello, C., Guarneri, A., Battistini, N., Ceriani, F., Del Santo, A., Poloni, M., Campo, J. F., Iglesias, F., Guitera, M. V., Farinas, C., Pascual, J., Leno, C., Berciano, J., Thorpe, I. W., Kendall, B. E., McDonald, W. I., Moulignier, A., Dromer, F., Baudrimont, M., Dupont, B., Gozlan, J., El Amrani, M., Petit, J. C., Roullet, E., Sterzi, R., Causaran, R., Protti, A., Riva, M., Erminio, F., Arena, O., Villa, F., Maccagnano, E., Miletta, M., Spinelli, F., Ben-Hur, T., Weidenfeldl, J., Rao, N. S., Chari, C. C., Laforet, P., Matheron, S., Adams, D., Chemouilli, Ph., Desi, M., Said, G., Davous, P., Lionnet, F., Pulik, M., Genet, P., Rozenberg, F., Cartier, L. M., Castillo, J. L., Cea, J. G., Villagra, R., de Saint Martin, L., Mahieux, F., Manifacier, M. J., Mattos, K., Queiros, C., Publio, L., Vinhas, V., PeÇanha-Martins, A. 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H., Mobner, R., Fassbender, K., Kuhnen, J., Schwartz, A., Hennerici, M., Miller, A., Lider, O., Abramsky, O., Weiner, H. L., Offner, H., Vanderbark, A. A., Paoino, E., Fainardi, E., Addonizio, M. C., Ruppi, P., Tola, M. R., Granieri, E., Carreras, M., Sazdovitch, V., Joutel, A., Verdier-taillefer, M. H., Heinzlef, O., Radder, C., Tournier-Lasserve, E., Brenner, R. E., Munro, P. M. G., Williams, S. C. R., Bell, J. D., Hawkins, C. P., Filippi, M., Campi, A., Dousset, V., Canal, N., Comi, G., Zhu, J., Weber, F., Retska, R., List, J., Zhang, L., Brock, M., Taphoorn, M. J. B., Heimans, J. J., van der Veen, E. A., Karim, A. B. M. F., Sarazin, M., Argentino, N., Delattre, J. Y., Derkinderen, P., Buchwald, B., Schroter, G., Serve, G., Franke, C. H., Conrad, B., Kitchen, N. D., Thomas, D. G. T., Forman, A. D., Ang, Kie- Kian, Price, R., Stephens, C., Salmaggi, A., Nermni, R., Silvani, A., Forno, M. 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A., Rothstein, T. L., Gibson J. M., Morrison P. M., Collins A. D., Eiselt, M., Wagnur, H., Zwiener, U., Schindler, T., Efendi, H., Ertekin, C., Erfas, M., Larsson, L. E., Sirin, H., AraÇ, N., Toygar, A., Demir, Y., Seddigh, S., Vogt, T. H., Hundemer, H., Visbeck, A., Pastena, L., Faralli, F., Mainardi, G., Gagliardi, R., Linden, D., Berlit, P., Lopez, O. L., Becker, J. T., Jungreis, C., Brenner, R., Rezek, D., Dekesky, S. T., Estol, C., Boller, F., Fernandez, J. M., Mederer, S., Batlle, J., Turon, A., Codina, A., Hitzenberger, P., Vila, N., Valls-SolÇ, J., Chamorro, A., Pouget, J., Schmied, A., Morin, D., Azulay, J. Ph., Vedel, J. P., Montalt, J., Escudero, J., Barona, R., Campos, A., Varli, K., Ertem, E., Uludag, B., Yagiz, A., Privorkin, Z., Steinvil, Y., Kott, E., Combarros, O., Sanchez-Pernaute, R., Orizaola, P., Mokrusch, Th., Kutluaye, E., Selcuki, D., Ertikin, C., Zettl, U., Gold, R., Harvey, G. K., Hartung, H. P., Toyka, K. V., Wokke, J. H. J., Oey, P. L., Ippel, P. F., Jansen, G. H., Franssen, H., Toyooka, K., Fujimura, H., Ueno, S., Yoshikawa, H., Yorifuji, S., Yanagihara, T., Talamon, C., Tzourio, C., Kiefer, R., Jung, S., Toyka, K., Ruolt, I., Tranchant, C., Mohr, M., Warter, J. M., Younger, D. S., Rosoklija, G., Hays, A. P., Kurita, R., Hasegawa, O., Matsumto, M., Komiyama, A., Nara, Y., Oueslati, S., Belal, S., Turki, I., Ben Hamida, C., Hentati, F., Ben Hamida, M., Kwiecinski, H., Krolicki, L., Domzal-Stryga, A., Dellemijn, P. L. I., van Deventer, P., van Moll, B., Drogendijk, T., Vecht, Ch. J., Nemni S., Amadio, Fazio, R., Galardin, G., Delodovici, M. L., Peghi, E., Monticelli, M. L., Sessa, A., Viguera, M. L., Palomar, M., Gamez, J., Cervera, C., Navarro, C., Serena, J., Duran, I., Fernandez, A. L., Comabella, M., Nos, C., Rio, J., Montalban, J., Navarro, X., Verdu, E., Darbra, S., Buti, M., Mrabet, A., Fredj, M., Gouider, R., Tounsi, H., Khalfallah, N., Haddad, A., Dbaiss, T., Ghnassia, R., Rouillet, E., Chedru, F., Porsche, H., Strenge, H., Li, S. W., Young, Y. P., Garcia, A. A., Baron, P., Scarpini, E., Bianchi, R., Conti, A., Livraghi, S., Rees, J. H., Gregson, N. A., Hughes, R. A. C., Sedano, M. J., Calleja, J., Canga, E., Bahou, Y., Biary, N., Al Deeb, S. M., Guern, E. L. E., Gugenheim, M., Tardieu, S., Aisonobe, T. M., Agid, Y., Bouche, P., Brice, A., Rautenstrauss, B., Nelis, E., Grehl, H., Van Broeckhoven, C., Pfeiffer, R. A., Liehr, T., Ganzmann, E., Gehring, C., Neundörfer, B., Geremia, L., Doronzo, R., Sacilotto, G., Sergi, P., Pastorino, G. C., Scarlato, G., Planté-Bordeneuve, V., Mantel, A., Baas, F., Moser, H., Antonini, A., Psylla, M., Günther, I., Vontobell, P., Beer, H. F., Leenders, K. L., Chaudhuri, K. Ray, Parker, J., Pye, I. F., Millac, P. A. H., Abbott, R. J., Sutter, M., Albani, C., de Rijk, M. C., Breteler, M. M. B., Graveland, G. A., van der Mechè, F. G. A., Hofman, A., Keipes, M., Hilger, Ch., Diederich, N., Metz, H., Hentges, F., Pollak, P., Benabid, A. L., Limousin, P., Hoffmann, D., Benazzouz, A., Perret, J., Laihinen, A., Rinne, J. O., Ruottinen, H., Nagren, K., Lehikoinen, P., Oikonen, V., Ruotsalainen, U., Rinne, U. K., Cocozza, S., Pizzuti, A., Cavalcanti, F., Monticelli, A., Pianese, L., Redolfi, E., Paiau, F., Di Donato, S., Pandolfo, M., Palau, F., Monros, E., De Michele, G., Smeyers, P., Lopez-ArLandis, J., Uilchez, J., Filla, A., Genis, D., Matilla, T., Volpini, V., Blanchs, M. I., Davalos, A., Molins, A., Rosell, J., Estivill, X., De Jonghe, P., Smeyers, G., Krols, L., Mercelis, R., Hazan, J., Weissenbach, J., Martin, J. J., Warner, T. A. T., Williams, L., Orb, A. S., Harding, A. E., Giunti, P., Sweeney, M. G., Spadaro, M., Jodice, C., Novelletto, A., Malaspina, P., Frontali, M., Salmon, E., Gregoire, Del Fiore, Comar, Franck, G., Scheltens, P. H., Siegfried, K., Dartigues, E., De Deyn, P., Horn, R., Nelson, I., Hanna, M. G., Morgan-Hughes, J. A., Collinge, J., Palmer, M. S., Campbell, T., Mahal, S., Sidle, K., Humphreys, C., Tavitian, B., Pappata, S., Jobert, A., Crouzel, A. M., DiGiamberardino, L., Steimetz, G., Barbanti, P., Fabbrini, G., Salvatore, M., Buzzi, M. G., Di Piero, V., Petraroli, R., Sbriccoli, A., Pocchiari, M., Macchi, G., Lenzi, G. L., Spiegel, R., Maguire, P., Schmid, W., Ott, A., Bots, M. L., Grobbe, D. E., Hofman, A., Howard, R. S., Russell, S., Losseff, N., Hirsch, N. P., Couderc, R., Bailleul, S., Nargeot, M. C., Touchon, J., Picot, M. C., Rizzo, M., Watson, G., McGehee, D., Dingus, T., Kappos, L., Radü, E. W., Haas, J., Hartard, C. H., Spuler, S., Yousry, T., Voltz, R., Scheller, A., Holler, E., Hohlfeld, R., Scolding, N. J., Sussman, J., Kolar, O. J., Farlow, M. R., Rice, P. H., Zipp, F., Sotgiu, S., Weiss, E. H., Wekerle, H., Chalmers, R., Robertson, N., Compston, D. A. S., Martino, G., Clementi, E., Brambilla, E., Moiola, L., Martinelli, V., Colombo, B., Poggi, A., Rovaris, M., Grimaldi, L. M. E., Roth, M. P., Descoins, P., Ballivet, S., Ruidavets, J. B., Waubant, E., Nogueira, L., Cambon-Thomsen, A., Clanet, M., Leppert, D., Hauser, S., Lugaresi, A., Tartaro, A., D'aurelio, P., Befalo, L. L. O., Thomas, A., Malatesta, G., Gambi, D., Benedikz, J. E. G., Magnusson, H., Poser, C. M., Guomundsson, G., Bates, T. E., Davies, S. E. C., Clark, J. B., Landon, D. N., ùther, J. R., Rautenberg, W., Overgaard, K., Sereghy, T., Pedersen, H., Boysen, G., Diez-Tejedor, E., Carceller, F., Gutierrez, M., Lopez-Pajares, R., Roda, J. M., Chandra, B., Ricart, W., Gonzalez-Huix, F., Molina, A., Rundek, T., Demarin, V., De Reuck, J., Boon, P., Decoq, D., Strijckmans, K., Goethals, P., Lemahieu, I., Nibbio, A., Chabriat, H., Vahedi, K., Nagy, T., Verin, M., Mas, J. L., Julien, J., Ducrocq, X., Iba-Zizen, M. T., Cabanis, E. A., Bousser, M. G., Rolland, Y., Landgraf, F., Bompais, B., Lemaitre, M. H., Edan, G., Vorstrup, S., Knudsen, L., Olsen, K. Skovgaard, Videbaek, C., Schroeder, T., van Gijn, J., Jansen, H. M. L., Pruim, J., Paans, A. M. J., Willemsen, A. T. M., Hew, J. M., vd Vliet, A. M., Haaxma, R., Vaalburg, W., Minderhoud, J. M., Korf, J., Soudain, S. E., Ho, T. W., Mishu, B., Li, C. Y., Nachainkin, I., Gao, C. Y., Cornblath, D. R., Griffin, J. W., Asbury, A. K., Blaser, M. J., McKhann, G. M., Ho, T., Macko, C., Xue, P., Stadlan, E. M., Ramos-Alvarez, M., Valenciano, L., Visser, L. H., van der Meché, F. G. A., van Darn, P. A., Meulstee, J., Schmitz, P. I. M., Jacobs, B., Oomes, P. G., Kleyweg, R. P., Jacobs, B. C., Endtz, H. P., van Doorn, P. A., van der Mech, F. G. A., Van den Berg, L. H., Mollee, I., Logtenberg, T., Thomas, P. K., Plant, G., Baxter, P. J., Luis, R. Santiago, Matsumoto, M., Notermans, N. C., Wokke, J. H. J., Lokhorst, H. M., van der Graaf, Y., Jennekens, F. G. I., Azulay, J. P., Bille-Turg, F., Valentin, P., Farnarier, G. G., Pellissier, J. F., Serratrice, G., Quasthoff, S., Schneider, U., Grafe, P., Hilkens, P. H. E., Moll, J. W. B., van der Burg, M. E. L., Planting, A. S. T., van Putten, W. L. J., van den Bent, M. J., Birklein, F., Spitzer, A., Lang, E., Neundorfer, B., Diehl, R. R., Lücke, D., Smith, G. D. P., Mathias, C. J., Serra, J., Campera, M., Ochoa, J. L., Ray Chaudhuri, K., Pavitt, D., Alam, M., Handwerker, H. O., Bleasdale-Barr, K., Smith, G., Murray, N. M. F., Hawkins, P., Pepys, M., Gellera, C., DiDonato, S., Taroni, F., Uncini, A., Di Muzio, A., Servidei, S., Silvestri, G., Lodi, R., Iotti, S., Barbiroli, B., Morrissey, S. P., Borruat, F. X., Francis, D., Mosely, I., Hansen, H. C., Helmke, K., Kunze, K., Sadzot, B., Maquet, P., Lemaire, Plenevaux, Damhaut, Sommer, C., Myers, R. R., Berta, E., Mantegazza, R., Argov, Z., Shapira, Y., Wirguin, I., Beuuer, J., Franke, C., Roberts, M., Willison, H., Vincent, A., Newsom-Davis, J., Morrison, K. E., Damels, R., Francis, M., Campbell, L., Davies, K. E., Kohler, W., Bucka, C., Hertel, G., Kanovsky, P., Auer, D., Ackermann, H., Klose, U., Naegele, Th., Bien, S., Voigt, K., Fink, G. R., Stephan, K. M., Wise, R. J. S., Mullatti, N., Hewer, L., Frackowiak, R. S. J., Weiller, C. S., Rijnites, M., Jueptner, M., Bauermann, T., Krams, M., Diener, H. C., van Walderveen, M. A. A., Barkhof, F., Hommes, O. R., Valk, J., Willmer, J. P., Guzman, D. A., Passingham, R. E., Silbersweig, D., Ceballos-Baumann, A., Frith, C. D., Frackowiak, R., Lucas, C. H., Goullard, L., Marchau, M. J., Godefroy, O., Rondepierre, P. H., Chamas, E., Mounier-Vehier, F., Leys, D., Renato, J., Verdugo, M. S. C., Campero, M., Jose, L., Ochoa, D. S. C., Vivancos, F., Tejedor, E. Diez, Martinez, N., Roda, J., Frank, A., Barreiro, P., Satoh, Y., Nagata, K., Maeda, T., Hirata, Y., YalÇinerner, B., Ozkara, C., Ozer, F., Ozer, S., Hanoglu, L., Zunker, P., Pozo, J. L., Oberwittler, C., Schick, A., Buschmann, H. -Ch., Ringelstein, E. Bernd, Lara, M., Anzola, G. P., Magoni, M., Volta, G. Dalla, Tarasov, A., Feigin, V., Beaudry, M. G., Carrier, S., Chicoutimi, Henriques, I. L., Bogoussslavsky, J., van Melle, G., Mathieu, J., Perusse, L., Allard, P., Prevost, C., Cantin, L., Bouchard, J. M., De Braekeleer, M., Agbo, C., Neau, J. P., Tantot, A. M., Dary-Auriol, M., Ingrand, P., Gil, R., Baltadjiev, D., Zekin, D., Sabey, K., Gennaula, C. P., Pope, B. A., Caparros-Lefebvre, D., Girard-Buttaz, I., Pruvo, J. P., Petit, H., Hipola, D., Martin, M., Giménez-Roldan, S., Ivanez, V., Japaridze, G., Carrasco, J. L., Picomell, I., Herranz, J. L., Macias, J. A., Nieto, M., Noya, M., Oller, L., Kiteva-Trencevska, G., Delgado, M. R., Liu, H., Luengo, A., Parra, J., Colas, J., Fernandez, M. J., Manzanares, R., Kornhuber, M. E., Malashkhia, V., Orkodashili, G., Martinez, M., Bonaventura, I., Porta, G., Martinez, I., Fernandez, A., Aguilar, M., Masnou, P., Drouet, A., Dreyfus, M., Cartron, J., Morel-Kopp, M. C., Tchernia, G., Kaplan, C., Lammers, M. W., Hekster, Y. A., Keyser, A., Meinardi, H., Renier, W. O., Boon, P. A. J. M., Have, M. D., Kint, B., Cruz, P., Cadilha, A., Almeida, R., Goncalves, M., Pimenta, M., Ramos, L. M. P., Polder, T. W., Broere, C. A., Polman, L., Rother, I., Rother, M., Schlaug, G., Arnold, S., Holthausen, H., Wunderlich, G., Ebner, A., Luders, H., Witte, O. W., Seitz, R. J., Serra, L. L., Gallicchio, B., Rotondi, F., Wieshmann, U., Meierkord, H., Sabev, K., Di Carlo, V., Gueguen, B., Derouesné, Ch., Ancri, D., Bourdel, M. C., Guillou, S., Aliaga, R., Chornet, M. A., Rodrigo, A., Pascual, A. Pascual -Leone, Catala, M. D., Pascual-Leone, A., Benbadis, S. R., Dinner, D. S., Chelune, G. J., Lüders, H. O., Piedmonte, M. R., Blanco, T., Lopez, M. P., Romero, B., Deltoro, A., Pascual, A., Pascual, Leone, Bolgert, F., Josse, M. O., Tassan, P., Touze, E., Laplane, D., Godenberg, F., Brizioli, E., Del Gobbo, M., Pelliccioni, G., Scarpino, O., Durak, H., Damlacik, G., Tunca, Z., Fidaner, H., Yurekli, Y., Yemez, B., Kaygisiz, A., Anllo, E. A., Esperet, E., Giovagnoli, A. R., Casazza, M., Spreafico, R., Avanzini, G., Mascheroni, S., Vecchio, I., Tornali, C., Antonuzzo, A., Grasso, A. A., Bella, R., Pennisi, G., Raffaele, R., Broeckx, J., Schildermans, F., Hospers, W., Deberdt, W., Carney, J. M., Aksenova, M., Chen, M. S., Juncadella, M., Busquets, N., De la Fuente, I., Rodriguez, A., Rubio, F., Soler, R., Khati, C., Pillon, B., Deweer, B., Malapani, C., Malichard, N., Dubois, B., Rancurel, G., Lopez, D. L., Jungreia, G., DeKosky, S. T., Boiler, F., Weiller, C., Rijntjes, M., Mueller, S. P., Maguire, E. 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M., Pleiffer, G., Kunre, K., Dieterich, M., Brandt, Th., Guarino, M., Stracciari, A., Pazzaglia, P., D'Alessandro, R., Santilli, I., Donato, M., The European Velnacrine Study Group, The Dutch Guillain-Barré study group, The COP-1 Multicenter Clinical and Research Group Study, and European Study Group
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32. Extracoronary atherosclerosis and genetic variants of apolipoprotein AI-CIII cluster in myocardial infarction survivors from southern Italy
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De Lorenzo, F., Monticelli, A., Cocozza, S., De Simone, B., and Rubba, P.
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33. Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers
- Author
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Pianese, L, Turano, M, Lo Casale, M S, De Biase, I, Giacchetti, M, Monticelli, A, Criscuolo, C, Filla, A, and Cocozza, S
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- 2004
34. Mitochondrial DNA haplogroups influence the Friedreich’s ataxia phenotype
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Giacchetti, M, Monticelli, A, De Biase, I, Pianese, L, Turano, M, Filla, A, De Michele, G, and Cocozza, S
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- 2004
35. ADDITION OF GLIFOZINE IN THE CARDIOLOGY OUTPATIENT SETTING: FOCUS ON BODY WEIGHT REDUCTION
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Formigli, D, Cocozza, S, Parente, A, Coppola, G, Di Donato, M, De Fortuna, E, Franco, V, Moscato, F, and Scherillo, M
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- 2024
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36. PATIENT WITH CHRONIC CORONARY SYNDROME: USE OF MULTIMODAL IMAGING FOR CORRECT DIAGNOSIS AND TREATMENT
- Author
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Formigli, D, Luongo, A, Franco, V, Moscato, F, Cocozza, S, Parente, A, Coppola, G, Di Donato, M, Tozzi, N, De Vizia, M, and Scherillo, M
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37. Erratum to 'Biparametric 3t magnetic resonance imaging for prostatic cancer detection in a biopsy-naïve patient population: A further improvement of PI-RADS v2? [Eur. J. Radiol. (2016) 85(12) (2269–2274)](S0720048X16303072)(10.1016/j.ejrad.2016.10.009)
- Author
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Stanzione A., Imbriaco M., Cocozza S., Fusco F., Rusconi G., Nappi C., Mirone V., Mangiapia F., Brunetti A., Ragozzino A., Longo N., Stanzione, A., Imbriaco, M., Cocozza, S., Fusco, F., Rusconi, G., Nappi, C., Mirone, V., Mangiapia, F., Brunetti, A., Ragozzino, A., and Longo, N.
- Abstract
The publisher regrets that there is an error in the title of this article. The title should be read as: “Biparametric 3t magnetic resonance imaging for prostatic cancer detection in a biopsy-naïve patient population: A further improvement of PI-RADS v2?” Instead of: “Biparametric 3t magentic resonance imaging for prostatic cancer detection in a biopsy-naïve patient population: A further improvement of PI-RADS v2?” The publisher would like to apologise for any inconvenience caused.
- Published
- 2017
38. Identification of C12orf4 as a gene for autosomal recessive intellectual disability
- Author
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Anju K Philips, Pinelli M, Ci, Bie, Mustonen A, Määttä T, Hh, Arts, Wu K, Roepman R, Js, Moilanen, Raza S, Varilo T, Scala G, Cocozza S, Gilissen C, Kl, Gassen, Järvelä I, Philips, A. K., Pinelli, M., de Bie, C. I., Mustonen, A., Maatta, T., Arts, H. H., Wu, K., Roepman, R., Moilanen, J. S., Raza, S., Varilo, T., Scala, G., Cocozza, S., Gilissen, C., van Gassen, K. L. I., and Jarvela, I.
- Subjects
Male ,Genotype ,Intellectual disability ,Missense variant ,Genes, Recessive ,C12orf4 ,Case Reports ,whole exome sequencing ,Consanguinity ,Netherland ,Frameshift variant ,Intellectual Disability ,Genetics ,Journal Article ,Humans ,Exome ,Genetic Predisposition to Disease ,Genetics(clinical) ,Amino Acid Sequence ,Child ,Finland ,Netherlands ,Aged ,Family Health ,Base Sequence ,Geography ,Sequence Homology, Amino Acid ,Intracellular Signaling Peptides and Proteins ,Whole exome sequencing ,Sequence Analysis, DNA ,Founder effect ,missense variant ,frameshift variant ,Founder Effect ,Pedigree ,Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11] ,Intracellular Signaling Peptides and Protein ,Mutation ,Female ,Human - Abstract
Contains fulltext : 169700.pdf (Publisher’s version ) (Closed access) Intellectual disability (ID) is a major health problem in our society. Genetic causes of ID remain unknown because of its vast heterogeneity. Here we report two Finnish families and one Dutch family with affected individuals presenting with mild to moderate ID, neuropsychiatric symptoms and delayed speech development. By utilizing whole exome sequencing (WES), we identified a founder missense variant c.983T>C (p.Leu328Pro) in seven affected individuals from two Finnish consanguineous families and a deletion c.799_1034-429delinsTTATGA (p.Gln267fs) in one affected individual from a consanguineous Dutch family in the C12orf4 gene on chromosome 12. Both the variants co-segregated in the respective families as an autosomal recessive trait. Screening of the p.Leu328Pro variant showed enrichment in the North Eastern sub-isolate of Finland among anonymous local blood donors with a carrier frequency of 1:53, similar to other disease mutations with a founder effect in that region. To date, only one Arab family with a three affected individuals with a frameshift insertion variant in C12orf4 has been reported. In summary, we expand and establish the clinical and mutational spectrum of C12orf4 variants. Our findings implicate C12orf4 as a causative gene for autosomal recessive ID.
- Published
- 2017
39. Effects on the incidence of cardiovascular events of the addition of pioglitazone versus sulfonylureas in patients with type 2 diabetes inadequately controlled with metformin (TOSCA.IT): a randomised, multicentre trial
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Vaccaro, O, Masulli, M, Nicolucci, A, Bonora, E, Del Prato, S, Maggioni, Ap, Rivellese, Aa, Squatrito, S, Giorda, Cb, Sesti, G, Mocarelli, P, Lucisano, G, Sacco, M, Signorini, S, Cappellini, F, Perriello, G, Babini, Ac, Lapolla, A, Gregori, G, Giordano, C, Corsi, L, Buzzetti, R, Clemente, G, Di Cianni, G, Iannarelli, R, Cordera, R, La Macchia, O, Zamboni, C, Scaranna, C, Boemi, M, Iovine, C, Lauro, D, Leotta, S, Dall'Aglio, E, Cannarsa, E, Tonutti, L, Pugliese, G, Bossi, Ac, Anichini, R, Dotta, F, Di Benedetto, A, Citro, G, Antenucci, D, Ricci, L, Giorgino, F, Santini, C, Gnasso, A, De Cosmo, S, Zavaroni, D, Vedovato, M, Consoli, A, Calabrese, M, di Bartolo, P, Fornengo, P, Riccardi, G, IT) study group, Thiazolidinediones Or Sulfonylureas Cardiovascular Accidents Intervention Trial (TOSCA., Collaborators: Vaccaro O, Italian Diabetes Society., D'Angelo, F, Giansanti, R, Tanase, L, Lanari, L, Testa, I, Pancani, F, Ranchelli, A, Vagheggi, P, Scatona, A, Fontana, L, Laviola, L, Tarantino, L, Ippolito, C, Gigantelli, V, Manicone, M, Conte, E, Trevisan, R, Rota, R, Corsi, A, Dodesini, Ar, Reggiani, Gm, Montesi, L, Mazzella, N, Forlani, G, Caselli, C, Di Luzio, R, Mazzotti, A, Aiello, A, Barrea, A, Musto, A, D'Amico, F, Sinagra, T, Longhitano, S, Trowpea, V, Sparti, M, Italia, S, Lisi, E, Grasso, G, Pezzino, V, Insalaco, F, Carallo, C, Scicchitano, C, De Franceschi MS, Calbucci, G, Ripani, R, Cuneo, G, Corsi, S, Romeo, F, Lesina, A, Comoglio, M, Bonetto, C, Robusto, A, Nada, E, Asprino, V, Cetraro, R, Impieri, M, Lucchese, G, Donnarumma, G, Tizio, B, Lenza, L, Paraggio, P, Tomasi, F, Dozio, N, Scalambra, E, Mannucci, E, Lamanna, C, Cignarelli, M, Macchia, O, Fariello, S, Sorrentino, Mr, Franzetti, I, Radin, R, Annunziata, F, Bonabello, La, Durante, A, Dolcino, M, Gallo, F, Mazzucchelli, C, Aleo, A, Melga, P, Briatore, L, Maggi, D, Storace, D, Cecoli, F, D'Ugo, E, Pupillo, M, Baldassarre, Mpa, Salvati, F, Minnucci, A, De Luca, A, Zugaro, A, Santarelli, L, Bosco, A, Petrella, V, La Verghetta GG, De Gregorio, A, D'Andrea, S, Giuliani, Ae, Polidoro, Wl, Sperandio, A, Sciarretta, F, Pezzella, A, Carlone, A, Potenziani, S, Venditti, C, Foffi, C, Carbone, S, Cipolloni, L, Moretti, C, Leto, G, Serra, R, Petrachi, F, Romano, I, Lacaria, E, Russo, L, Goretti, C, Sannino, C, Dolci, M, Bruselli, L, Mori, Ml, Baccetti, F, Del Freo, M, Cucinotta, D, Giunta, L, Ruffo, Mc, Cannizzaro, D, Pintaudi, B, Perrone, G, Pata, P, Ragonese, F, Lettina, G, Mancuso, T, Coppolino, A, Piatti, Pm, Monti, L, Stuccillo, M, Lucotti, P, Setola, M, Crippa, Gv, Loi, C, Oldani, M, Bottalico, Ml, Pellegata, B, Bonomo, M, Menicatti, Lsm, Resi, V, Bertuzzi, F, Disoteo, Eo, Pizzi, G, Annuzzi, G, Capaldo, B, Nappo, R, Auciello, Sm, Turco, Aa, Costagliola, L, Corte, Gd, Vallefuoco, P, Nappi, F, Vitale, M, Cocozza, S, Ciano, O, Massimino, E, Garofalo, N, Avogaro, A, Guarneri, G, Fedele, D, Sartore, G, Chilelli, Nc, Burlina, S, Bonsembiante, B, Galluzzo, A, Torregrossa, V, Mancastroppa, G, Arsenio, L, Cioni, F, Caronna, S, Papi, M, Babini, M, Santeusanio, F, Calagreti, G, Timi, A, Tantucci, A, Marino, C, Ginestra, F, Di Biagio, R, Taraborelli, M, Miccoli, R, Bianchi, C, Garofolo, M, Politi, Ks, Penno, G, Livraga, S, Calzoni, F, Mancastroppa, Glf, Corsini, E, Tedeschi, A, Gaglianò, Ms, Ippolito, G, Salutini, E, Cervellino, F, Natale, M, Salvatore, V, Zampino, A, Sinisi, R, Arcangeli, A, Zogheri, A, Guizzotti, S, Longo, R, Di Bartolo, P, Pellicano, F, Scolozzi, P, Termine, S, Luberto, A, Ballardini, G, Trojani, C, Mazzuca, P, Bruglia, M, Ciamei, M, Genghini, S, Zannoni, C, Rangel, G, Salvi, L, Zappaterreno, A, Cordone, S, Simonelli, P, Meggiorini, M, Frasheri, A, Di Pippo, C, Maglio, C, Mazzitelli, G, Rinaldi, Me, Galli, A, Romano, M, D'Angelo, P, Suraci, C, Bacci, S, Palena, Ap, Genovese, S, Mancino, M, Rondinelli, M, Capone, F, Calabretto, E, Bulgheroni, M, Bucciarelli, L, Ceccarelli, E, Fondelli, C, Santacroce, C, Guarino, E, Nigi, L, Lalli, C, Di Vizia, G, Scarponi, M, Montani, V, Di Bernardino, P, Romagni, P, Dolcetti, K, Forte, E, Tamburo, L, Perin, Pc, Prinzis, T, Gruden, G, Bruno, G, Zucco, C, Perotta, M, Marena, S, Monsignore, S, Panero, F, Ponzi, F, Carpinteri, R, Casagrande, Ml, Coletti, Mf, Balini, A, Filopanti, M, Madaschi, S, Pulcina, A, Grimaldi, F, Venturini, G, Agus, S, Pagnutti, S, Guidotti, F, Cavarape, A, Cigolini, M, Pichiri, I, Brangani, C, Fainelli, G, Tomasetto, E, Zoppini, G, Galletti, A, Perrone, D, Capra, C, Bianchini, F, Ceseri, M, Di Nardo, B, Sasso, E, Bartolomei, B, Suliman, I, Fabbri, G, Romano, G, Maturo, N, Nunziata, G, Capobianco, G, De Simone, G, Villa, V, Rota, G, Pentangelo, C, Carbonara, O, Caiazzo, G, Cutolo, M, Sorrentino, T, Mastrilli, V, Amelia, U, Masi, S, Corigliano, G, Gaeta, I, Armentano, V, Calatola, P, Capuano, G, Angiulli, B, Auletta, P, Petraroli, E, Iodice, Ce, Agrusta, M., Vaccaro, Olga, Masulli, Maria, Nicolucci, Antonio, Bonora, Enzo, Del Prato, Stefano, Maggioni, Aldo P, Rivellese, Angela A, Squatrito, Sebastiano, Giorda, Carlo B, Sesti, Giorgio, Mocarelli, Paolo, Lucisano, Giuseppe, Sacco, Michele, Signorini, Stefano, Cappellini, Fabrizio, Perriello, Gabriele, Babini, Anna Carla, Lapolla, Annunziata, Gregori, Giovanna, Giordano, Carla, Corsi, Laura, Buzzetti, Raffaella, Clemente, Gennaro, Di Cianni, Graziano, Iannarelli, Rossella, Cordera, Renzo, La Macchia, Olga, Zamboni, Chiara, Scaranna, Cristiana, Boemi, Massimo, Iovine, Ciro, Lauro, Davide, Leotta, Sergio, Dall'Aglio, Elisabetta, Cannarsa, Emanuela, Tonutti, Laura, Pugliese, Giuseppe, Bossi, Antonio C, Anichini, Roberto, Dotta, Francesco, Di Benedetto, Antonino, Citro, Giuseppe, Antenucci, Daniela, Ricci, Lucia, Giorgino, Francesco, Santini, Costanza, Gnasso, Agostino, De Cosmo, Salvatore, Zavaroni, Donatella, Vedovato, Monica, Consoli, Agostino, Calabrese, Maria, Di Bartolo, Paolo, Fornengo, Paolo, Riccardi, Gabriele, Maggioni, Aldo Pietro, D'Angelo, Federica, Giansanti, Roberto, Tanase, Laura, Lanari, Luigi, Testa, Ivano, Pancani, Francesca, Ranchelli, Anna, Vagheggi, Paolo, Scatona, Alessia, Fontana, Lucia, Laviola, Luigi, Tarantino, Lucia, Ippolito, Claudia, Gigantelli, Vittoria, Manicone, Mariangela, Conte, Eleonora, Trevisan, Roberto, Rota, Rossella, Corsi, Anna, Dodesini, Alessandro R., Reggiani, Giulio Marchesini, Montesi, Luca, Mazzella, Natalia, Forlani, Gabriele, Caselli, Chiara, Di Luzio, Raffaella, Mazzotti, Arianna, Aiello, Antimo, Barrea, Angelina, Musto, Antonio, D'Amico, Fiorentina, Sinagra, Tiziana, Longhitano, Sara, Trowpea, Vanessa, Sparti, Maria, Italia, Salvatore, Lisi, Enrico, Grasso, Giuseppe, Pezzino, Vincenzo, Insalaco, Federica, Carallo, Claudio, Scicchitano, Caterina, De Franceschi, Maria Serena, Calbucci, Giovanni, Ripani, Raffaella, Cuneo, Giacomo, Corsi, Simona, Giorda, Carlo B., Romeo, Francesco, Lesina, Annalisa, Comoglio, Marco, Bonetto, Caterina, Robusto, Anna, Nada, Elisa, Asprino, Vincenzo, Cetraro, Rosa, Impieri, Michelina, Lucchese, Giuseppe, Donnarumma, Giovanna, Tizio, Biagio, Lenza, Lazzaro, Paraggio, Pia, Tomasi, Franco, Dozio, Nicoletta, Scalambra, Egle, Mannucci, Edoardo, Lamanna, Caterina, Cignarelli, Mauro, Macchia, Olga La, Fariello, Stefania, Sorrentino, Maria Rosaria, Franzetti, Ivano, Radin, Raffaella, Annunziata, Francesca, Bonabello, Laura Affinito, Durante, Arianna, Dolcino, Mara, Gallo, Fiorenza, Mazzucchelli, Chiara, Aleo, Anna, Melga, Pierluigi, Briatore, Lucia, Maggi, Davide, Storace, Daniela, Cecoli, Francesca, D'Ugo, Ercole, Pupillo, Mario, Baldassarre, Maria Pompea Antonia, Salvati, Filippo, Minnucci, Anita, De Luca, Angelo, Zugaro, Antonella, Santarelli, Livia, Bosco, Angela, Petrella, Vittorio, La Verghetta, Grazia Giovanna, De Gregorio, Antonella, D'Andrea, Settimio, Giuliani, Anna Elisa, Polidoro, W. Lorella, Sperandio, Alessandra, Sciarretta, Filomena, Pezzella, Alfonso, Carlone, Angela, Potenziani, Stella, Venditti, Chiara, Foffi, Chiara, Carbone, Salvatore, Cipolloni, Laura, Moretti, Chiara, Leto, Gaetano, Serra, Rosalia, Petrachi, Francesca, Romano, Isabella, Lacaria, Emilia, Russo, Laura, Goretti, Chiara, Sannino, Claudia, Dolci, Maria, Bruselli, Laura, Mori, Mary L., Baccetti, Fabio, Del Freo, Maria, Cucinotta, Domenico, Giunta, Loretta, Ruffo, Maria Concetta, Cannizzaro, Desiree, Pintaudi, Basilio, Perrone, Giovanni, Pata, Pietro, Ragonese, Francesco, Lettina, Gabriele, Mancuso, Teresa, Coppolino, Aldo, Piatti, Pier Marco, Monti, Lucilla, Stuccillo, Michela, Lucotti, Pietro, Setola, Manuela, Crippa, Giulia Valentina, Loi, Cinzia, Oldani, Matteo, Bottalico, Maria Luisa, Pellegata, Beatrice, Bonomo, Matteo, Menicatti, Laura Silvia Maria, Resi, Veronica, Bertuzzi, Federico, Disoteo, Eugenia Olga, Pizzi, Gianluigi, Rivellese, Angela Albarosa, Annuzzi, Giovanni, Capaldo, Brunella, Nappo, Rossella, Auciello, Stefania Michela, Turco, Anna Amelia, Costagliola, Lucia, Corte, Giuseppina Della, Vallefuoco, Pasquale, Nappi, Francesca, Vitale, Marilena, Cocozza, Sara, Ciano, Ornella, Massimino, Elena, Garofalo, Nadia, Avogaro, Angelo, Guarneri, Gabriella, Fedele, Domenico, Sartor, Giovanni, Chilelli, Nino Cristiano, Burlina, Silvia, Bonsembiante, Barbara, Galluzzo, Aldo, Torregrossa, Vittoria, Mancastroppa, Giovanni, Arsenio, Leone, Cioni, Federico, Caronna, Silvana, Papi, Matteo, Babini, Massimiliano, Santeusanio, Fausto, Calagreti, Gioia, Timi, Alessia, Tantucci, Alice, Marino, Cecilia, Ginestra, Federica, Di Biagio, Rosamaria, Taraborelli, Merilda, Miccoli, Roberto, Bianchi, Cristina, Garofolo, Monia, Politi, Konstantina Savina, Penno, Giuseppe, Livraga, Stefania, Calzoni, Fabio, Mancastroppa, Giovanni Luigi Francesco, Corsini, Elisa, Tedeschi, Anna, Gaglianã², Maria Sole, Ippolito, Giulio, Salutini, Elisabetta, Cervellino, Francesco, Natale, Maria, Salvatore, Vita, Zampino, Armando, Sinisi, Rosa, Arcangeli, Adolfo, Zogheri, Alessia, Guizzotti, Sandra, Longo, Rossella, Pellicano, Francesca, Scolozzi, Patrizia, Termine, Simona, Luberto, Alessandra, Ballardini, Giorgio, Trojani, Cristina, Mazzuca, Paolo, Bruglia, Matteo, Ciamei, Monica, Genghini, Silvia, Zannoni, Chiara, Vitale, Martina, Rangel, Graziela, Salvi, Laura, Zappaterreno, Alessandra, Cordone, Samantha, Simonelli, Paola, Meggiorini, Marilla, Frasheri, Aurora, Di Pippo, Clelia, Maglio, Cristina, Mazzitelli, Giulia, Rinaldi, Maria Elena, Galli, Angelica, Romano, Maria, D'Angelo, Paola, Suraci, Concetta, Bacci, Simonetta, Palena, Antonio Pio, Genovese, Stefano, Mancino, Monica, Rondinelli, Maurizio, Capone, Filippo, Calabretto, Elisabetta, Bulgheroni, Monica, Bucciarelli, Loredana, Ceccarelli, Elena, Fondelli, Cecilia, Santacroce, Clorinda, Guarino, Elisa, Nigi, Laura, Lalli, Carlo, Di Vizia, Giovanni, Scarponi, Maura, Montani, Valeria, Di Bernardino, Paolo, Romagni, Paola, Dolcetti, Katia, Forte, Elisa, Tamburo, Lucilla, Perin, Paolo Cavallo, Prinzis, Tania, Gruden, Gabriella, Bruno, Graziella, Zucco, Chiara, Perotta, Massimo, Marena, Saverio, Monsignore, Simona, Panero, Francesco, Ponzi, Fulvia, Bossi, Antonio Carlo, Carpinteri, Rita, Casagrande, Maria Linda, Coletti, Maria Francesca, Balini, Annalisa, Filopanti, Marcello, Madaschi, Sara, Pulcina, Anna, Grimaldi, Franco, Venturini, Giorgio, Agus, Sandra, Pagnutti, Stefania, Guidotti, Francesca, Cavarape, Alessandro, Cigolini, Massimo, Pichiri, Isabella, Brangani, Corinna, Fainelli, Giulia, Tomasetto, Elena, Zoppini, Giacomo, Galletti, Anna, Perrone, Dominica, Capra, Claudio, Bianchini, Francesca, Ceseri, Martina, Di Nardo, Barbara, Sasso, Elisa, Bartolomei, Barbara, Suliman, Irina, Fabbri, Gianna, Romano, Geremia, Maturo, Nicola, Nunziata, Giuseppe, Capobianco, Giuseppe, De Simone, Giuseppina, Villa, Valeria, Rota, Giuseppe, Pentangelo, Carmine, Carbonara, Ornella, Caiazzo, Gennaro, Cutolo, Michele, Sorrentino, Tommasina, Mastrilli, Valeria, Amelia, Umberto, Masi, Stefano, Corigliano, Gerardo, Gaeta, Iole, Armentano, Vincenzo, Calatola, Pasqualino, Capuano, Gelsomina, Angiulli, Bruno, Auletta, Pasquale, Petraroli, Ettore, Iodice, Cinzia E., Agrusta, Mariano, Vaccaro, O, Masulli, M, Nicolucci, A, Bonora, E, Del Prato, S, Maggioni, A, Rivellese, A, Squatrito, S, Giorda, C, Sesti, G, Mocarelli, P, Lucisano, G, Sacco, M, Signorini, S, Cappellini, F, Perriello, G, Babini, A, Lapolla, A, Gregori, G, Giordano, C, Corsi, L, Buzzetti, R, Clemente, G, Di Cianni, G, Iannarelli, R, Cordera, R, La Macchia, O, Zamboni, C, Scaranna, C, Boemi, M, Iovine, C, Lauro, D, Leotta, S, Dall'Aglio, E, Cannarsa, E, Tonutti, L, Pugliese, G, Bossi, A, Anichini, R, Dotta, F, Di Benedetto, A, Citro, G, Antenucci, D, Ricci, L, Giorgino, F, Santini, C, Gnasso, A, De Cosmo, S, Zavaroni, D, Vedovato, M, Consoli, A, Calabrese, M, di Bartolo, P, Fornengo, P, Riccardi, G, D'Angelo, F, Giansanti, R, Tanase, L, Lanari, L, Testa, I, Pancani, F, Ranchelli, A, Vagheggi, P, Scatona, A, Fontana, L, Laviola, L, Tarantino, L, Ippolito, C, Gigantelli, V, Manicone, M, Conte, E, Trevisan, R, Rota, R, Dodesini, A, Reggiani, G, Montesi, L, Mazzella, N, Forlani, G, Caselli, C, Di Luzio, R, Mazzotti, A, Aiello, A, Barrea, A, Musto, A, D'Amico, F, Sinagra, T, Longhitano, S, Trowpea, V, Sparti, M, Italia, S, Lisi, E, Grasso, G, Pezzino, V, Insalaco, F, Carallo, C, Scicchitano, C, De Franceschi, M, Calbucci, G, Ripani, R, Cuneo, G, Corsi, S, Romeo, F, Lesina, A, Comoglio, M, Bonetto, C, Robusto, A, Nada, E, Asprino, V, Cetraro, R, Impieri, M, Lucchese, G, Donnarumma, G, Tizio, B, Lenza, L, Paraggio, P, Tomasi, F, Dozio, N, Scalambra, E, Mannucci, E, Lamanna, C, Cignarelli, M, Macchia, O, Fariello, S, Sorrentino, M, Franzetti, I, Radin, R, Annunziata, F, Bonabello, L, Durante, A, Dolcino, M, Gallo, F, Mazzucchelli, C, Aleo, A, Melga, P, Briatore, L, Maggi, D, Storace, D, Cecoli, F, D'Ugo, E, Pupillo, M, Baldassarre, M, Salvati, F, Minnucci, A, De Luca, A, Zugaro, A, Santarelli, L, Bosco, A, Petrella, V, La Verghetta, G, D'Andrea, S, Giuliani, A, Polidoro, W, Sperandio, A, Sciarretta, F, Pezzella, A, Carlone, A, Potenziani, S, Venditti, C, Foffi, C, Carbone, S, Cipolloni, L, Moretti, C, Leto, G, Serra, R, Petrachi, F, Romano, I, Lacaria, E, Russo, L, Goretti, C, Sannino, C, Dolci, M, Bruselli, L, Mori, M, Baccetti, F, Del Freo, M, Cucinotta, D, Giunta, L, Ruffo, M, Cannizzaro, D, Pintaudi, B, Perrone, G, Pata, P, Ragonese, F, Lettina, G, Mancuso, T, Coppolino, A, Piatti, P, Monti, L, Stuccillo, M, Lucotti, P, Setola, M, Crippa, G, Loi, C, Oldani, M, Bottalico, M, Pellegata, B, Bonomo, M, Menicatti, L, Resi, V, Bertuzzi, F, Disoteo, E, Pizzi, G, Annuzzi, G, Capaldo, B, Nappo, R, Auciello, S, Turco, A, Costagliola, L, Corte, G, Vallefuoco, P, Nappi, F, Vitale, M, Cocozza, S, Ciano, O, Massimino, E, Garofalo, N, Avogaro, A, Guarneri, G, Fedele, D, Sartore, G, Chilelli, N, Burlina, S, Bonsembiante, B, Galluzzo, A, Torregrossa, V, Mancastroppa, G, Arsenio, L, Cioni, F, Caronna, S, Papi, M, Santeusanio, F, Calagreti, G, Timi, A, Tantucci, A, Marino, C, Ginestra, F, Di Biagio, R, Taraborelli, M, Miccoli, R, Bianchi, C, Garofolo, M, Politi, K, Penno, G, Livraga, S, Calzoni, F, Corsini, E, Tedeschi, A, Gagliano, M, Ippolito, G, Salutini, E, Cervellino, F, Natale, M, Salvatore, V, Zampino, A, Sinisi, R, Arcangeli, A, Zogheri, A, Guizzotti, S, Longo, R, Pellicano, F, Scolozzi, P, Termine, S, Luberto, A, Ballardini, G, Trojani, C, Mazzuca, P, Bruglia, M, Ciamei, M, Genghini, S, Zannoni, C, Rangel, G, Salvi, L, Zappaterreno, A, Cordone, S, Simonelli, P, Meggiorini, M, Frasheri, A, Di Pippo, C, Maglio, C, Mazzitelli, G, Rinaldi, M, Galli, A, Romano, M, D'Angelo, P, Suraci, C, Bacci, S, Palena, A, Genovese, S, Mancino, M, Rondinelli, M, Capone, F, Calabretto, E, Bulgheroni, M, Bucciarelli, L, Ceccarelli, E, Fondelli, C, Santacroce, C, Guarino, E, Nigi, L, Lalli, C, Di Vizia, G, Scarponi, M, Montani, V, Di Bernardino, P, Romagni, P, Dolcetti, K, Forte, E, Tamburo, L, Perin, P, Prinzis, T, Gruden, G, Bruno, G, Zucco, C, Perotta, M, Marena, S, Monsignore, S, Panero, F, Ponzi, F, Carpinteri, R, Casagrande, M, Coletti, M, Balini, A, Filopanti, M, Madaschi, S, Pulcina, A, Grimaldi, F, Venturini, G, Agus, S, Pagnutti, S, Guidotti, F, Cavarape, A, Cigolini, M, Pichiri, I, Brangani, C, Fainelli, G, Tomasetto, E, Zoppini, G, Galletti, A, Perrone, D, Capra, C, Bianchini, F, Ceseri, M, Di Nardo, B, Sasso, E, Bartolomei, B, Suliman, I, Fabbri, G, Romano, G, Maturo, N, Nunziata, G, Capobianco, G, De Simone, G, Villa, V, Rota, G, Pentangelo, C, Carbonara, O, Caiazzo, G, Cutolo, M, Sorrentino, T, Mastrilli, V, Amelia, U, Masi, S, Corigliano, G, Gaeta, I, Armentano, V, Calatola, P, Capuano, G, Angiulli, B, Auletta, P, Petraroli, E, Iodice, C, Agrusta, M, di Bartolo, Paolo, Polidoro, w Lorella, Sartore, Giovanni, and Gaglianò, Maria Sole
- Subjects
Male ,Diabetes and Metabolism, ipoglycemic drugs, cardiovascualr event ,Settore MED/09 - Medicina Interna ,endocrine system diseases ,IMPACT ,pioglitazone versus sulfonylureas ,Endocrinology, Diabetes and Metabolism ,GLIMEPIRIDE ,Diabetes, cardiovascular events, metformin, pioglitazone, sulphonylureas ,Type 2 diabetes ,030204 cardiovascular system & hematology ,Internal Medicine ,Endocrinology ,law.invention ,Settore MED/13 - Endocrinologia ,Glibenclamide ,0302 clinical medicine ,Randomized controlled trial ,law ,GLYCEMIC CONTROL ,Gliclazide ,Internal medicine ,diabetes and metabolism ,RISK ,education.field_of_study ,diabetes ,Incidence ,endocrinology, diabetes and metabolism ,endocrinology ,Middle Aged ,INSULIN ,Metformin ,Treatment Outcome ,Editorial ,sulphonylureas ,Cardiovascular Diseases ,Combination ,Drug Therapy, Combination ,Female ,Type 2 ,medicine.drug ,medicine.medical_specialty ,Population ,030209 endocrinology & metabolism ,Aged ,Diabetes Mellitus, Type 2 ,Humans ,Hypoglycemic Agents ,Pioglitazone ,Sulfonylurea Compounds ,Thiazolidinediones ,Cardiovascular events ,03 medical and health sciences ,GLUCOSE-LOWERING DRUGS ,Drug Therapy ,Diabetes Mellitus ,medicine ,sulfonylureas ,education ,TOSCA.IT ,business.industry ,MORTALITY ,nutritional and metabolic diseases ,Insulin resistance ,medicine.disease ,Surgery ,Glimepiride ,business ,FOLLOW-UP - Abstract
Background The best treatment option for patients with type 2 diabetes in whom treatment with metformin alone fails to achieve adequate glycaemic control is debated. We aimed to compare the long-term effects of pioglitazone versus sulfonylureas, given in addition to metformin, on cardiovascular events in patients with type 2 diabetes. Methods TOSCA.IT was a multicentre, randomised, pragmatic clinical trial, in which patients aged 50â75 years with type 2 diabetes inadequately controlled with metformin monotherapy (2â3 g per day) were recruited from 57 diabetes clinics in Italy. Patients were randomly assigned (1:1), by permuted blocks randomisation (block size 10), stratified by site and previous cardiovascular events, to add-on pioglitazone (15â45 mg) or a sulfonylurea (5â15 mg glibenclamide, 2â6 mg glimepiride, or 30â120 mg gliclazide, in accordance with local practice). The trial was unblinded, but event adjudicators were unaware of treatment assignment. The primary outcome, assessed with a Cox proportional-hazards model, was a composite of first occurrence of all-cause death, non-fatal myocardial infarction, non-fatal stroke, or urgent coronary revascularisation, assessed in the modified intention-to-treat population (all randomly assigned participants with baseline data available and without any protocol violations in relation to inclusion or exclusion criteria). This study is registered with ClinicalTrials.gov, number NCT00700856. Findings Between Sept 18, 2008, and Jan 15, 2014, 3028 patients were randomly assigned and included in the analyses. 1535 were assigned to pioglitazone and 1493 to sulfonylureas (glibenclamide 24 [2%], glimepiride 723 [48%], gliclazide 745 [50%]). At baseline, 335 (11%) participants had a previous cardiovascular event. The study was stopped early on the basis of a futility analysis after a median follow-up of 57·3 months. The primary outcome occurred in 105 patients (1·5 per 100 person-years) who were given pioglitazone and 108 (1·5 per 100 person-years) who were given sulfonylureas (hazard ratio 0·96, 95% CI 0·74â1·26, p=0·79). Fewer patients had hypoglycaemias in the pioglitazone group than in the sulfonylureas group (148 [10%] vs 508 [34%], p
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- 2017
40. Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia
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Santoro, L, De Michele, G, Perretti, A, Crisci, C, Cocozza, S, Cavalcanti, F, Ragno, M, Monticelli, A, Filla, A, and Caruso, G
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- 1999
41. Determinants of Deep Gray Matter Atrophy in Multiple Sclerosis: A Multimodal MRI Study
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Pontillo, G., primary, Cocozza, S., additional, Lanzillo, R., additional, Russo, C., additional, Stasi, M.D., additional, Paolella, C., additional, Vola, E.A., additional, Criscuolo, C., additional, Borrelli, P., additional, Palma, G., additional, Tedeschi, E., additional, Morra, V.B., additional, Elefante, A., additional, and Brunetti, A., additional
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- 2018
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42. Diffuse brain connectivity changes in Charcot–Marie–Tooth type 1a patients: a resting‐state functional magnetic resonance imaging study.
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Pontillo, G., Tozza, S., Perillo, T., Cocozza, S., Dubbioso, R., Severi, D., Iodice, R., Tedeschi, E., Elefante, A., Brunetti, A., Manganelli, F., and Quarantelli, M.
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FUNCTIONAL magnetic resonance imaging ,DIAGNOSTIC imaging ,FUNCTIONAL connectivity ,VISUAL cortex ,PERIPHERAL nervous system - Abstract
Background and purpose: Changes of brain structure and function have been described in peripheral neuropathies. The aim of our study was to systematically investigate possible modifications of major large‐scale brain networks using resting‐state functional magnetic resonance imaging (RS‐fMRI) in Charcot–Marie–Tooth disease type 1A (CMT1A) patients. Methods: In this cross‐sectional study, 3‐T MRI brain scans were acquired of right‐handed genetically confirmed CMT1A patients and age‐ and sex‐comparable healthy controls. Patients also underwent clinical and electrophysiological examinations assessing neurological impairment. RS‐fMRI data were analysed using a seed‐based approach, with 32 different seeds sampling the main hubs of default mode, sensorimotor, visual, salience (SN), dorsal attention, frontoparietal, language and cerebellar networks. Between‐group differences in terms of functional connectivity (FC) with the explored seeds were tested voxelwise, correcting for local grey matter density to account for possible structural abnormalities, whilst the relationship between FC modifications and neurological impairment was investigated using robust correlation analyses. Results: Eighteen CMT1A patients (34.0 ± 11.4 years; M/F 11/7) were enrolled, along with 20 healthy controls (30.1 ± 10.2 years; M/F 11/9). In the CMT group compared to controls, clusters of increased FC with the visual cortex (P = 0.001), SN (P < 6 × 10−4), dorsal attention network (P < 8 × 10−5) and language network (P < 7 × 10–4) were found, along with a single cluster of reduced FC with the visual cortex in the left lentiform nucleus (P = 10–6). A significant correlation emerged between neurophysiological impairment and increased FC with right temporal language areas (r = 0.655, P = 0.006), along with an association between walking ability and increased FC with the left supramarginal gyrus (SN) (r = 0.620, P = 0.006). Conclusions: Our data show evidence of diffuse functional reorganization involving multiple large‐scale networks in the CMT1A brain, independent of structural modifications and partially correlating with peripheral nerve damage and functional impairment. [ABSTRACT FROM AUTHOR]
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- 2021
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43. Grey:white matter ratio at diagnosis and the risk of 10-year multiple sclerosis progression
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Moccia, M., Quarantelli, M., Lanzillo, R., Cocozza, S., Carotenuto, A., Carotenuto, B., Alfano, B., Prinster, A., Triassi, M., Nardone, A., PALLADINO, RAFFAELE, Brunetti, A., Brescia Morra, V., BRUNETTI, ARTURO, Moccia, M., Quarantelli, M., Lanzillo, R., Cocozza, S., Carotenuto, A., Carotenuto, B., Alfano, B., Prinster, A., Triassi, M., Nardone, A., Palladino, Raffaele, Brunetti, A., Brescia Morra, V., and Brunetti, Arturo
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Male ,Pathology ,SEGMENTATION ,Gastroenterology ,030218 nuclear medicine & medical imaging ,0302 clinical medicine ,BRAIN ATROPHY ,Gray Matter ,Hazard ratio ,RESONANCE-IMAGING PREDICTORS ,Brain ,Middle Aged ,Magnetic Resonance Imaging ,White Matter ,medicine.anatomical_structure ,Neurology ,INTERFERON BETA-1A ,multiple sclerosi ,Disease Progression ,Female ,Life Sciences & Biomedicine ,Adult ,medicine.medical_specialty ,Multiple Sclerosis ,Clinical Neurology ,progressive ,Grey matter ,White matter ,03 medical and health sciences ,Young Adult ,Atrophy ,atrophy ,Internal medicine ,medicine ,Humans ,Retrospective Studies ,Expanded Disability Status Scale ,Science & Technology ,Neurology & Neurosurgery ,Proportional hazards model ,business.industry ,Multiple sclerosis ,Neurosciences ,Retrospective cohort study ,GRAY-MATTER ,1103 Clinical Sciences ,grey ,white ,medicine.disease ,COGNITIVE IMPAIRMENT ,PATHOLOGY ,LESION LOAD ,Neurosciences & Neurology ,Neurology (clinical) ,business ,FOLLOW-UP ,1109 Neurosciences ,030217 neurology & neurosurgery ,LONG-TERM DISABILITY - Abstract
Background and purpose: Grey matter (GM) and white matter (WM) are both affected in multiple sclerosis (MS). WM is predominantly involved in inflammatory demyelination of relapsing–remitting MS (RRMS), whereas GM is predominantly involved in neurodegenerative processes of secondary progressive MS. Thus, we investigated the ratio between GM and WM volumes in predicting MS evolution. Methods: The present 10-year retrospective cohort study included 149 patients with newly-diagnosed RRMS, undergoing magnetic resonance imaging for segmentation and brain volumetry. The ratio between GM and normal-appearing WM (NAWM) volumes was calculated for each subject. Outcome measures of interest were Expanded Disability Status Scale (EDSS) progression, reaching EDSS 4.0 and conversion to secondary progressive (SP) MS. Results: During a period of 10.6 ± 2.4 years, a median 1.5 EDSS progression was observed (range 0–5.5), 54 subjects (36.2%) reached EDSS 4.0 and 30 subjects (20.1%) converted to SP. With ordinal logistic regression models, EDSS progression was associated with GM:NAWM ratio (coefficient, −2.918; 95% CI, −4.739–1.097). With Cox regression models, subjects with higher GM:NAWM ratio at diagnosis had a 90% lower rate of reaching EDSS 4.0 (hazard ratio, 0.111; 95% CI, 0.020–0.609) and of converting to secondary progressive MS (hazard ratio, 0.017; 95% CI, 0.001–0.203) compared with subjects with lower GM:NAWM ratio. Conclusions: The GM:NAWM ratio is a predictor of disability progression and of SP conversion in subjects with newly diagnosed RRMS, suggesting that GM and NAWM are variably affected in relation to disease evolution from the early phases of MS. © 2016 EAN
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- 2016
44. Sex differences in food choices, adherence to dietary recommendations and plasma lipid profile in type 2 diabetes
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Vitale, M., Masulli, M., Cocozza, S., Anichini, R., Babini, A., Boemi, M., Bonora, E., Buzzetti, R., Carpinteri, R., Caselli, C., Ceccarelli, E., Cignarelli, M., Citro, G., Clemente, G., Consoli A, C., De Gregorio, A., Di Bartolo, P., Di Cianni, G., Fontana, L., Garofolo, M., Giorda, C., Giordano, C., Grioni, S., Iovine, C., Longhitano, S., Mancastroppa, G., Mazzucchelli, C., Montani, V., Mori, M., Perriello, G., Rinaldi, M., Ruffo, M., Salvi, L., Sartore, G., Scaranna, C., Tonutti, L., Zamboni, C., Zogheri, A., Krogh, V., Cappellini, F., Signorini, S., Riccardi, G., Vaccaro, O., IT Study Group, T., Vitale M1, Masulli M, Cocozza S, Anichini R, Babini AC, Boemi M, Bonora E, Buzzetti R, Carpinteri R, Caselli C, Ceccarelli E, Cignarelli M, Citro G, Clemente G, Consoli A, Corsi L, De Gregorio A, Di Bartolo P, Di Cianni G, Fontana L, Garofolo M, Giorda CB, Giordano C, Grioni S, Iovine C, Longhitano S, Mancastroppa G, Mazzucchelli C, Montani V, Mori M, Perriello G, Rinaldi ME, Ruffo MC, Salvi L, Sartore G, Scaranna C, Tonutti L, Zamboni C, Zogheri A, Krogh V, Cappellini F, Signorini S, Riccardi G, Vaccaro O, and TOSCA.IT Study Group.
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tosca,Diabetes,Dietary habits,Nutritional recommendations,Sex differences,Men,Women,Cardiovascular risk factors - Abstract
Background and aims Diabetic women have a more adverse plasma lipid profile than men. Sex differences in dietary habits may play a role, but are little investigated. The study evaluates the quality of diet, adherence to the nutritional recommendations of the Diabetes and Nutrition Study Group and their relation with plasma lipid in men and women with diabetes. Methods and results We studied 2573 people, aged 50–75, enrolled in the TOSCA.IT study (clinicaltrials.gov; NCT00700856). Plasma lipids were measured centrally. Diet was assessed with a semi-quantitative food frequency questionnaire. Women had a more adverse plasma lipid profile than men. Women consumed significantly more legumes, vegetables, fruits, eggs, milk, vegetable oils, and added sugar, whereas men consumed more starchy foods, soft drinks and alcoholic beverages. This stands for a higher proportion (%) of energy intake from saturated fat and added sugar (12.0 ± 2.4 vs 11.5 ± 2.5 and 3.4 ± 3.2 vs 2.3 ± 3.2, P < 0.04), and a higher intake of fiber (11.2 ± 2.8 vs 10.4 ± 2.6 g/1000 Kcal/day) in women. Adherence to the recommendations for saturated fat and fiber consumption was associated with significantly lower LDL-cholesterol regardless of sex. Adherence to the recommendations for added sugars was associated with significantly lower triglycerides and higher HDL-cholesterol in men and women. Conclusions Men and women with diabetes show significant differences in adherence to nutritional recommendations, but sex differences in plasma lipid profile are unlikely to be explained by nutritional factors. Adherence to the nutritional recommendations is associated with a better plasma lipid profile regardless of sex, thus reinforcing the importance of substituting saturated for unsaturated fat sources, increasing fiber and reducing added sugar intake.
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- 2016
45. Feasibility of tract based dosimetric analysis in brain tumor patients
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Conson, M., Cella, L., D'Ippolito, E., Piccolo, F., Cocozza, S., D'Avino, V., Liuzzi, R., Quarantelli, M., and Pacelli, R.
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radiotherapy ,MRI - Published
- 2017
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46. Corrigendum to 'The combination of UCP3-55CT and PPAR?2Pro12Ala polymorphisms affects BMI and substrate oxidation in two diabetic populations' [Nutr Metab Cardiovasc Dis 26 (2016) 400-406] (S0939475315300168) (10.1016/j.numecd.2016.01.012)
- Author
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Lapice E., Monticelli A., Cocozza S., Pinelli M., Massimino E., Giacco A., Rivellese A.A., Riccardi G., and Vaccaro O.
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BMI ,Polymorphism ,Type 2 diabetes - Abstract
When this paper was first published, there was an error in the decimal points for some figures in Table 4. The last two rows of Table 4 are printed correctly below:[table presented]
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- 2017
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47. Grey/white matter ratio at diagnosis, and the risk of 10-year multiple sclerosis progression
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Marcello Moccia, Quarantelli, M., Lanzillo, R., Cocozza, S., Carotenuto, A., Carotenuto, B., Alfano, B., Prinster, A., Triassi, M., Palladino, R., Brunetti, A., Morra, V. Brescia, Moccia, Marcello, Quarantelli, M, Lanzillo, Roberta, Cocozza, S, Carotenuto, Antonio, Carotenuto, B, Alfano, B, Prinster, A, Triassi, Maria, Palladino, R, Brunetti, A, and Morra, Vb
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Multiple sclerosis ,MRI - Published
- 2015
48. The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.
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Lieto, M., Riso, V., Galatolo, D., De Michele, G., Rossi, S., Barghigiani, M., Cocozza, S., Pontillo, G., Trovato, R., Saccà, F., Salvatore, E., Tessa, A., Filla, A., Santorelli, F. M., and Silvestri, G.
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SPINOCEREBELLAR ataxia ,PERIPHERAL nervous system ,CEREBELLAR ataxia ,MOVEMENT disorders ,CEREBRAL atrophy ,PYRAMIDAL tract - Abstract
Background and purpose: Heterozygous mutations in the STUB1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia (SCA) associated with cerebellar cognitive‐affective syndrome (CCAS), named SCA48. Methods: Molecular screening was performed in a cohort of 235 unrelated patients with adult‐onset, autosomal dominant (17) or sporadic (218) cerebellar ataxia, negative for pathological trinucleotide expansions in the common SCAs, FRDA and FXTAS loci, by using targeted multigene panels or whole‐exome sequencing. Bioinformatics analyses, detailed neurological phenotyping and family segregation studies corroborated the pathogenicity of the novel STUB1 mutations. Clinico‐diagnostic findings were reviewed to define the phenotypic spectrum. Results: Eight heterozygous STUB1 mutations were identified, six of which were novel in 11 patients from eight index families, giving an estimated overall frequency of 3.4% (8/235) for SCA48 in our study cohort, rising to 23.5% (4/17) when considering only familial cases. All our SCA48 patients had cerebellar ataxia and dysarthria associated with cerebellar atrophy on brain magnetic resonance imaging; of note, many cases were also associated with parkinsonism, chorea and dystonia. CCAS also occurred frequently, whereas definite signs of pyramidal tract dysfunction and peripheral nervous system involvement were absent. One SCA48 patient presented with hypogonadism, associated with other autoimmune endocrine dysfunctions. Conclusions: Our results support SCA48 as a significant cause of adult‐onset SCA. Besides CCAS, our SCA48 patients often showed movement disorders and other clinical manifestations previously described in SCAR16, linked to biallelic variants in the same gene, thus suggesting a continuous clinical spectrum and significant overlap amongst recessive and dominantly inherited mutations in STUB1. [ABSTRACT FROM AUTHOR]
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- 2020
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49. P6488Impact of novel recommendations for the evaluation of left ventricular diastolic function in estimating filling pressures in the clinical practice
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Sorrentino, R, primary, Cocozza, S, additional, Lembo, M, additional, Esposito, R, additional, Scalamogna, M, additional, Vaccaro, A, additional, Trimarco, B, additional, and Galderisi, M, additional
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- 2018
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50. Redefining the Pulvinar Sign in Fabry Disease
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Cocozza, S., primary, Russo, C., additional, Pisani, A., additional, Olivo, G., additional, Riccio, E., additional, Cervo, A., additional, Pontillo, G., additional, Feriozzi, S., additional, Veroux, M., additional, Battaglia, Y., additional, Concolino, D., additional, Pieruzzi, F., additional, Mignani, R., additional, Borrelli, P., additional, Imbriaco, M., additional, Brunetti, A., additional, Tedeschi, E., additional, and Palma, G., additional
- Published
- 2017
- Full Text
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