36 results on '"Castronovo C"'
Search Results
2. IL FONDAMENTO DEL DIRITTO PRIVATO EUROPEO
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MAZZAMUTO, Salvatore, CASTRONOVO C., AAVV, MAZZAMUTO S, CASTRONOVO C, Mazzamuto, Salvatore, and Castronovo, C.
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- 2007
3. Cabergoline is an effective single-drug treatment for restless legs syndrome: clinical and actigraphic evaluation
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Zucconi M, Oldani A, Castronovo C, FERINI STRAMBI , LUIGI, Zucconi, M, Oldani, A, Castronovo, C, and FERINI STRAMBI, Luigi
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- 2003
4. Psychophysiological patterns of children at risk for panic disorder
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BATTAGLIA, MARCO MARIA, Bajo S, Strambi LF, Brambilla F, Castronovo C, Vanni G, BELLODI L, Battaglia, MARCO MARIA, Bajo, S, Strambi, Lf, Brambilla, F, Castronovo, C, Vanni, G, and Bellodi, L
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- 1997
5. Questioni esistenziali e categorie giuridiche. Confronti sulle tematiche del «fine vita»
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Amato, Salvatore, Montanari, Bruno, Botturi, F., Castronovo, C., D' Agostino, F., Neri, D., Pessina, A., Santosuosso, A., and Tallacchini, M.
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- 2004
6. Efficacia della vaccinazione antipertosse
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Giotti, M, Massafra, S, Fiasconi, L, Castronovo, C, and Gasparini, Roberto
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- 1999
7. Structured psychiatric interview and ambulatory sleep monitoring in young psychophysiological insomniacs
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Zucconi, M., Ferini-Strambi, L., ORSOLA GAMBINI, Castronovo, C., Galli, L., Campana, A., Scarone, S., Smirne, S., Zucconi, M, FERINI STRAMBI, Luigi, Gambini, O, Castronovo, C, Galli, L, Campana, A, Scarone, S, and Smirne, S.
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Adult ,Male ,Psychiatric Status Rating Scales ,Mental Disorders ,Polysomnography ,Monitoring, Ambulatory ,Sleep, REM ,Comorbidity ,Psychophysiologic Disorders ,Sleep Initiation and Maintenance Disorders ,Humans ,Female ,Sleep Stages ,Sleep - Abstract
The presence of psychiatric disorders (according to DSM-III-R), the discriminating power of a psychiatric structured interview, and sleep monitoring were investigated in psychophysiological insomnia.Forty young (20-40 years old) patients, selected for putative psychophysiological insomnia, underwent a psychiatric structured interview and home ambulatory sleep monitoring for 2 nights. The results were compared with those of a group of nine young normal sleepers.48% of the insomniacs showed some psychiatric disorders, while 52% did not meet DSM-III-R criteria for a psychiatric diagnosis. Both groups, but not the controls, showed a slight first-night effect in the sleep analysis. The sleep structure of all insomniacs was found to be disturbed, mainly in sleep continuity, but essentially the two groups showed no significant differences. When we used a stepwise logistic regression analysis, the number of sleep stage shifts (indicating sleep instability) was the best variable in discriminating the insomniacs from controls, but not the patients with psychiatric disturbances from those without psychopathologies.The evaluation of young insomniacs with a structured psychiatric interview rather than with ambulatory sleep monitoring seems to be most useful in discriminating between patients with only psychophysiological insomnia and patients with both insomnia and an associated diagnosis of another mental disorder.
8. [Vitamin D anti-cancer activities: observations, doubts and certainties]
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Castronovo C, Castronovo V, Arjen Nikkels, and Peulen O
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Neoplasms ,Humans ,Vitamins ,Vitamin D - Abstract
The importance of vitamin D in bone and phosphocalcic status is well recognized by the scientific and medical communities; however, recently identified properties of this cholesterol derived molecule, such as immunomodulator and anticancer activities, are yet discussed. Actually, the debate is not so much about the new vitamin D properties, but rather about the optimal concentration required to reach these properties. The difficulty in determining the norms is rendered even more complex by the existence of a vitamin D receptor gene polymorphism. The body pool of this vitamin depends essentially on its endogenous synthesis, but also on its dietary intakes. Many epidemiological studies interested in Vitamin D serum level and cancer suggest a relation between low Vitamin D level and cancer risk, especially in breast and colon adenocarcinomas. In vitro, many studies showed, in different human and animal malignant cell lines, that this molecule exerts anticancer activities: it induces apoptosis and cell differentiation as well as it inhibits proliferation and angiogenesis. This review tries to update the current knowledge on vitamin D and, more particularly, the potential interest of this molecule in cancer prevention and management.
9. Effect of experimental thermal pain stimulation during sleep
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Zucconi, M., Lavigne, G., Castronovo, C., Manzini, C., Marchettini, P., Ferini-Strambi, L., Fabio Formaglio, and Smirne, S.
10. Mowat-Wilson syndrome and mutation of the Zinc Finger Homeo Box 1B gene: A new syndrome probably under-diagnosed
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Cerruti Mainardi, P., Livia Garavelli, Pastore, G., Virdis, R., Pedori, S., Godi, M., Provera, S., Rauch, A., Zweier, C., Castronovo, C., Zollino, M., Banchini, G., Bernasconi, S., and Neri, G.
11. Clausole e principi generali nel diritto della proprietà intellettuale
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Nivarra, Luca, Barcellona, M. Rusciano, M. e altri, Barcellona, M., D'Amico, G., Castronovo, C. e altri, and Nivarra, Luca
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general clauses principles intellectual property ,Settore IUS/01 - Diritto Privato - Abstract
The application of the general clauses and principles to the matter of intellectual property
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- 2022
12. Pre-sleep arousal and sleep quality during the COVID-19 lockdown in Italy
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Maurizio Gorgoni, Laura Palagini, Lino Nobili, Giulio Alessandro Bonetti, Dario Arnaldi, Francesco Fanfulla, Luigi Ferini-Strambi, Giuseppe Plazzi, Enrica Bonanni, Maria R. Bonsignore, Anastasia Mangiaruga, Raffaele Ferri, C. Castronovo, Sergio Garbarino, Michelangelo Maestri, Alessandro Silvani, Serena Scarpelli, Valentina Alfonsi, Monica Puligheddu, Raffaele Manni, Biancamaria Guarnieri, Claudio Vicini, Luigi De Gennaro, Gorgoni M., Scarpelli S., Mangiaruga A., Alfonsi V., Bonsignore M.R., Fanfulla F., Ferini-Strambi L., Nobili L., Plazzi G., De Gennaro L., Arnaldi D., Bonanni E., Bonetti G.A., Castronovo C., Maestri M., Garbarino S., Guarnieri B., Manni R., Palagini L., Puligheddu M., Ferri R., Silvani A., and Vicini C.
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stress depression ,COVID-19 pandemic ,Depression ,Pre-sleep arousal ,Sleep quality ,Stress ,Coronavirus disease 2019 (COVID-19) ,Pre sleep arousal ,Stre ,Socio-culturale ,Settore MED/10 - Malattie Dell'Apparato Respiratorio ,Arousal ,Communicable Disease Control ,Humans ,Pandemics ,SARS-CoV-2 ,Sleep ,Sleep Quality ,Surveys and Questionnaires ,COVID-19 ,Sleep Initiation and Maintenance Disorders ,Insomnia ,medicine ,Surveys and Questionnaire ,Depression (differential diagnoses) ,Pandemic ,business.industry ,Cognition ,General Medicine ,Sleep in non-human animals ,sleep quality ,pre-sleep arousal ,Original Article ,medicine.symptom ,business ,Clinical psychology ,Human - Abstract
Objective The COVID-19 pandemic has strongly affected daily habits and psychological wellbeing, and many studies point to large modifications in several sleep and sleep-related domains. Nevertheless, pre-sleep arousal during the pandemic has been substantially overlooked. Since hyperarousal represents one of the main factors for the development and the perpetuation of chronic insomnia disorder, the assessment of variables associated with high levels of pre-sleep arousal during the pandemic is clinically relevant. The study aimed to assess the prevalence and predictors of perceived sleep quality and pre-sleep arousal in an Italian sample during the COVID-19 lockdown. Methods We used an online survey to collect self-reported sociodemographic, environmental, clinical, sleep, and sleep-related data. Our final sample included 761 participants. Results Beyond a high frequency of poor sleep quality, depressive and stress symptoms, our results show that almost half of the sample suffered from clinically relevant levels of at least one component (ie, cognitive, somatic) of pre-sleep arousal. Subjects with greater pre-sleep arousal exhibited poorer sleep quality. Also, sleep quality was strongly associated with somatic and cognitive pre-sleep arousal. Regarding the predictors of sleep and sleep-related measures, depressive and event-related stress symptoms were the main factors associated with both poor sleep quality and pre-sleep arousal components. Moreover, specific sociodemographic and environmental variables were uniquely related to sleep quality, cognitive or somatic pre-sleep arousal. Conclusions These findings suggest that the assessment of specific sleep-related factors (ie, pre-sleep arousal), together with more global measures of sleep quality, may be crucial to depict the complex impact of the pandemic on sleep, and to help prevent and counteract the spread of insomnia symptoms.
- Published
- 2021
13. Il Jobs Act dei lavoratori autonomi e le strategie di tutela del contraente debole nei rapporti 'b2b': il meticciamento delle regole come preludio a possibili approdi uniformi e le sfide per l'interprete
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Venuti, Maria Carmela, Grisi, G, Nivarra, L, Salvi, C, Libertini, M, Auletta, F, Zaccheo, M, Consolo, C, Capponi, B, Terranova, G, Scalisi, V, Plaia, A, Navarretta, E, Liotta, G, Merusi, F, Mazzamuto, M, Costantino, G, Addis, F, Albanese, A, Battelli, E, Camilleri, E, Gabrielli, E, Gemma, A, Marella, MR, Moscati, E, Nicolussi, A, Pagliantini, S, Piraino, F, Rojas Elgueta, G, Santoro, L, Spoto, G, Verde, G, Barcellona, M, Carrata, A, Castronovo, C, Di Majo, A, Galasso, A, Gentili, A, Pardolesi, R, Tosi, P, Vettori, G, Mazzamuto, S, and Venuti, Maria Carmela
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Jobs Act dei lavoratori autonomi ,ritardi di pagamento nelle transazioni commerciali ,tecniche di tutela ,Settore IUS/01 - Diritto Privato ,tutela del contraente debole-lavoratore autonomo ,clausole contrattuali e prassi gravemente inique ,abuso di dipendenza economica - Abstract
Il saggio analizza gli aspetti di interesse prettamente civilistico del cosiddetto "Jobs Act dei lavoratori autonomi" (legge 22 maggio 2017, n. 81), mettendo in evidenza le novità in tema di strategie di tutela del contraente debole-lavoratore autonomo con specifico riferimento all'inserimento di clausole abusive nei contratti ricadenti sotto il suo ambito di operatività e all'abuso di dipendenza economica, e segnalando i tratti di continuità dello strumentario scelto con soluzioni proprie della legislazione consumeristica, nell'ottica di una possibile convergenza tra discipline .
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- 2019
14. Libertà fondamentali UE e diritto privato
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Plaia A., Nivarra, L, Plaia, A, Barcellona, M, Castronovo, C, Corso, G, AA.AA., and Plaia A.
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Settore IUS/01 - Diritto Privato ,Libertà fondamentali, efficacia orizzontale - Abstract
L’affermazione dell’efficacia diretta della norma del trattato e del principio di responsabilità dello stato per violazione del diritto comunitario hanno con- tribuito a implementare l’effettività della norma dell’Unione europea. L’ultima tappa significativa di tale percorso può considerarsi il consolidarsi del ricono- scimento di una «efficacia orizzontale» delle norme del Trattato che prevedo- no le quattro libertà fondamentali. Ancora una volta, scegliendo tra le varie interpretazioni possibili, quella che consente di riconoscere alla norma la mag- giore effettività possibile, in modo che lo scopo della stessa possa essere rag- giunto (c.d. effetto utile), la Corte di giustizia è pervenuta ad un’applicazione della norme «costituzionali» europee in senso orizzontale: si è cioè ammesso che al rispetto della norma attributiva di un diritto soggettivo al singolo non sia soltanto lo Stato (c.d. efficacia diretta verticale), ma anche il soggetto priva- to, persona fisica o giuridica (c.d. efficacia diretta orizzontale)
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- 2018
15. Cognitive dysfunction in patients with obstructive sleep apnea (OSA): partial reversibility after continuous positive airway pressure (CPAP)
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Luigi Ferini-Strambi, C. Baietto, C. Castronovo, Marco Zucconi, Stefano F. Cappa, M. R. Di Gioia, P. Castaldi, FERINI STRAMBI, Luigi, Baietto, C, Di Gioia, Mr, Castaldi, P, Castronovo, C, Zucconi, M, and Cappa, Sf
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Male ,Time Factors ,medicine.medical_treatment ,Neuropsychological Tests ,Severity of Illness Index ,Positive-Pressure Respiration ,Surveys and Questionnaires ,Severity of illness ,medicine ,Humans ,Attention ,Continuous positive airway pressure ,Sleep Apnea, Obstructive ,General Neuroscience ,Epworth Sleepiness Scale ,Neuropsychology ,Sleep apnea ,Middle Aged ,Executive functions ,medicine.disease ,nervous system diseases ,respiratory tract diseases ,Cognitive test ,Obstructive sleep apnea ,Case-Control Studies ,Anesthesia ,Female ,Cognition Disorders ,Psychology ,Psychomotor Performance ,Follow-Up Studies - Abstract
The aims of this study were to assess cognitive function in obstructive sleep apnea (OSA) patients and to evaluate the effect of short- and long-term treatment with continuous positive airway pressure treatment (CPAP). A battery of neuropsychological tests, the Epworth Sleepiness Scale (ESS), and the Beck Inventory Scale were administered to 23 patients with severe OSA (age: 56.5+/-6.13; AHI: 54.9+/-13.37) and to 23 age- and education-matched controls. The OSA patients were evaluated in a baseline condition and in two follow-up treatment sessions (after 15 days and 4 months of CPAP, respectively). At baseline, OSA patients had a significant impairment, compared to controls, in tests of sustained attention, visuospatial learning, executive function, motor performance, and constructional abilities. The longitudinal evaluation showed that after a 15-days CPAP treatment attentive, visuospatial learning, and motor performances returned to normal levels. A 4-months CPAP treatment did not result in any further improvement in cognitive tests. Performance on tests evaluating executive functions and constructional abilities was not affected by short- and long-term treatment with CPAP. The findings of this study confirm the hypothesis of partial reversibility of cognitive dysfunction in OSA patients after CPAP.
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- 2003
- Full Text
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16. Effects of continuous positive airway pressure on cognitition and neuroimaging data in sleep apnea
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Sara Marelli, C. Castronovo, Luigi Ferini-Strambi, Andrea Galbiati, FERINI STRAMBI, Luigi, Marelli, S, Galbiati, A, and Castronovo, C.
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medicine.medical_specialty ,medicine.medical_treatment ,media_common.quotation_subject ,Statistics as Topic ,Neuroimaging ,Audiology ,Cognition ,Sleep Apnea Syndromes ,Physiology (medical) ,medicine ,Humans ,Continuous positive airway pressure ,media_common ,Continuous Positive Airway Pressure ,General Neuroscience ,Brain morphometry ,Sleep apnea ,medicine.disease ,nervous system diseases ,respiratory tract diseases ,Obstructive sleep apnea ,Neuropsychology and Physiological Psychology ,Treatment Outcome ,Psychology ,Neurocognitive ,Neuroscience ,Vigilance (psychology) ,Executive dysfunction - Abstract
Obstructive sleep apnea (OSA) has been associated with a broad range of neurocognitive difficulties. The current view is that the neurocognitive impairment in OSA is due to the adverse effects of sleep fragmentation and/or intermittent hypoxia. The overall picture of cognitive deficits in OSA is complex. On balance, there appears to be negative effects of OSA on cognition, most likely in the domains of attention/vigilance, verbal and visual delayed long-term memory, visuospatial/constructional abilities, and executive dysfunction. Continuous positive airway pressure (CPAP) is the most effective and widely used treatment of OSA. In the majority of studies of OSA patients treated with CPAP, attention/vigilance improved, but changes in global functioning, executive functioning, and memory improved in about half of the studies. This may be due, in part, to variability in study design and sampling methodology across studies. Structural volume changes have been demonstrated in brain regions of OSA patients including areas that regulate memory and executive function (e.g., frontal cortex, anterior cingulate, and hippocampus). Growing evidence suggests that the OSA-related changes in brain morphology may improve with CPAP treatment. Neuroimaging studies performed during cognitive testing have provided insight into CPAP's effect on function of neuroanatomical circuits in the brain. Although neuroimaging can provide important insights into the structural and functional differences associated with OSA, one of the challenges is to interpret the findings in light of comorbid conditions that also cause neural injury. The purpose of this article is to provide a narrative review of the publications on cognition and neuroimaging in OSA before and after CPAP treatment.
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- 2013
17. EEG arousal pattern in habitual snorers with and without obstructive sleep apnoea (OSA)
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Luigi Ferini-Strambi, Giliola Calori, Marco Zucconi, Salvatore Smirne, Alessandro Oldani, C. Castronovo, Zucconi, M, Oldani, A, FERINI STRAMBI, Luigi, Calori, G, Castronovo, C, and Smirne, S.
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Moderate to severe ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Cognitive Neuroscience ,General Medicine ,Electroencephalography ,Sleep in non-human animals ,respiratory tract diseases ,Arousal ,Behavioral Neuroscience ,Internal medicine ,Cardiology ,Medicine ,Eeg arousal ,Statistical analysis ,business - Abstract
This study evaluated the arousal pattern and sleep fragmentation in the sleep microstructure of heavy snorers and obstructive sleep apnoea (OSA) patients. Fifteen snorers [Group A, (A + H I) ≤ 10], 15 mild OSA (Group B, A + H I > 10 ≤ 30] and 15 moderate to severe OSA (Group C, A + H I > 30) were studied retrospectively analysing the number, duration and type of arousals according to scoring rules concerning definition (including delta bursts) and length (from 2 to 60 s) of phasic arousal events. The number of arousals per hour of sleep related to respiratory events was higher in Groups B and C, whilst in Group A there was a number of arousals not related to apnoea or hypopnoea. Daytime sleepiness, present in all three groups and measured by a subjective evaluation, correlated with both the number and EEG type of arousal, but not with the duration. Statistical analysis indicated that arousal index related to apnoea or hypopnoea was the best variable for determining the sleepiness risk in OSA and snorers. Sleep microstructure analysis seems a good scoring method for the detection of sleep fragmentation and arousals in relation to abnormal respiratory events.
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- 1995
- Full Text
- View/download PDF
18. Le pratiche commerciali scorrette nel settore del credito: la prassi dell’AGCM
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Meli, Vincenzo, Cerami, P, Serio, M, Moccia, L, Calderale, A, Vacca, L, Castronovo, C, Petrucci, A, Smorto, G, Vanni, D, Ruvolo, M, Petruso, R, Crespi Reghizzi, G, Garbarino, LP, Monteleone, G, Procida Mirabelli Di Lauro A., Meli, V., Ligios, MA, Miceli, M, Ziino, S, Giaimo, G, Cavalieri, R, Malchionna, LCM, and MELI, V
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Settore IUS/05 - Diritto Dell'Economia ,Pratiche commerciali scorrette - Credito - Autorità garante della concorrenza e del mercato - Published
- 2011
19. I SERVIZI FINANZIARI
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MAZZAMUTO, Salvatore, ALPA G., AAVV, MAZZAMUTO S, CASTRONOVO C, Mazzamuto, Salvatore, and Alpa, G.
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- 2007
20. LA VENDITA DEI BENI DI CONSUMO
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MAZZAMUTO, Salvatore, PLAIA A., AAVV, MAZZAMUTO S, CASTRONOVO C, Mazzamuto, Salvatore, and Plaia, A.
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- 2007
21. I RIMEDI
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MAZZAMUTO, Salvatore, PLAIA A., AAVV, MAZZAMUTO S, CASTRONOVO C, Mazzamuto, Salvatore, and Plaia, A.
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- 2007
22. IL CONTRATTO DI PACCHETTO TURISTICO
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MAZZAMUTO, Salvatore, AAVV, MAZZAMUTO S, CASTRONOVO C, and Mazzamuto, Salvatore
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- 2007
23. La fiducia
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GENTILI, AURELIO, CASTRONOVO C., MAZZAMUTO S., and Gentili, Aurelio
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Fiducia ,Titolarità - Abstract
Lo studio ha ad oggetto il tema della fiducia come rapporto metagiuridico, prendendo in esame l'istituto sotto il profilo storico ed evolutivo con particolare attenzione alle questioni di teoria generale del diritto, senza trascurare gli aspetti pratici legati ai rapporti tra fiduciante e fiduciario e alle società fiduciarie.
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- 2007
24. LA MULTIPROPRIETA'
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MAZZAMUTO, Salvatore, AAVV, MAZZAMUTO S, CASTRONOVO C, and Mazzamuto, Salvatore
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- 2007
25. L'IMPRESA E LE SOCIETA'
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MAZZAMUTO, Salvatore, LIBERTINI M, ANGELICI C., AAVV, MAZZAMUTO S, CASTRONOVO C, Mazzamuto, Salvatore, Libertini, M, and Angelici, C.
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- 2007
26. IL DIRITTO CONTRATTUALE DI FONTE COMUNITARIA
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MAZZAMUTO, Salvatore, ALPA G., AAVV, MAZZAMUTO S, CASTRONOVO C, Mazzamuto, Salvatore, and Alpa, G.
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- 2007
27. I VALORI MOBILIARI E GLI STRUMENTI FINANZIARI
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MAZZAMUTO, Salvatore, AAVV, MAZZAMUTO S, CASTRONOVO C, and Mazzamuto, Salvatore
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- 2007
28. IL TRUST
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MAZZAMUTO, Salvatore, AAVV, MAZZAMUTO S, CASTRONOVO C, and Mazzamuto, Salvatore
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- 2007
29. Le procedure d'insolvenza
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Terranova, A, MANGANO, Renato, Castronovo, C, Mazzamuto, S, Terranova, A, and Mangano, R
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insolvenza ,impresa ,fallimento ,Settore IUS/04 - Diritto Commerciale - Abstract
Il lavoro, redatto insieme al prof. Terranova, contiene un''esposizione della disciplina contenuta nel Regolamento 1346/2000 sulle procedure d''insolvenza, un''analisi della sua tecnica normativa e delle problematiche che, in questo decennio di applicazione, il testo comunitario ha sollevato.
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- 2007
30. Le crisi d'impresa
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MANGANO, Renato, CASTRONOVO C. MAZZAMUTO S., and MANGANO R
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- 2005
31. New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
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Angela Ida Pincelli, Palma Finelli, Silvia Tabano, Lidia Larizza, Milena Crippa, Mario Perotti, Chiara Castronovo, Ilaria Bestetti, Guido Grassi, Chiara Picinelli, Crippa, M, Bestetti, I, Perotti, M, Castronovo, C, Tabano, S, Picinelli, C, Grassi, G, Larizza, L, Pincelli, A, and Finelli, P
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Proband ,Hair Disease ,Langer-Giedion Syndrome ,Transcription Factor ,DNA Mutational Analysis ,Chromosomal translocation ,Case Report ,Hand Deformitie ,medicine.disease_cause ,Translocation, Genetic ,Langer–Giedion syndrome ,Chromosome Breakpoints ,TRPS1 ,Conserved enhancer element ,Genetics(clinical) ,Genetics (clinical) ,In Situ Hybridization, Fluorescence ,Genetics ,Mutation ,Comparative Genomic Hybridization ,Genetic disorder ,Chromosome Mapping ,Middle Aged ,DNA-Binding Proteins ,Phenotype ,Chromosomes, Human, Pair 2 ,Female ,Human ,Chromosomes, Human, Pair 8 ,DNA-Binding Protein ,Translocation Breakpoint ,Biology ,Nose ,DNA Mutational Analysi ,Fingers ,medicine ,Finger ,Humans ,Enhancer ,Base Sequence ,Breakpoint ,Computational Biology ,Hand Deformities ,medicine.disease ,Molecular biology ,Radiography ,Repressor Proteins ,Chromosome Breakpoint ,TRPS ,Reciprocal translocation ,Hair Diseases ,Transcription Factors - Abstract
Background Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterised by distinctive craniofacial and skeletal abnormalities. TRPS is generally associated with mutations in the TRPS1 gene at 8q23.3 or microdeletions of the 8q23.3-q24.11 region. However, three deletions affecting the same chromosome region and a familial translocation t(8;13) co-segregating with TRPS, which do not encompass or disrupt the TRPS1 gene, have been reported. A deregulated expression of TRPS1 has been hypothesised as cause of the TRPS phenotype of these patients. Case presentation We report the clinical and molecular characterisation of a 57-year-old Caucasian woman carrying the t(2;8)(p16.1;q23.3) de novo balanced translocation. The proband presented with peculiar clinical features (severe craniofacial dysmorphism, alopecia universalis, severe scoliosis, mitral valve prolapse, mild mental impairment and normal growth parameters) that partially overlap with TRPS I. Mutational and array CGH analyses ruled out any genetic defect affecting TRPS1 or genomic alteration at the translocation breakpoint or elsewhere in the genome. Breakpoint mapping excluded disruption of TRPS1, and revealed that the chromosome 8q23.3 breakpoint was located within the IVS10 of the long intergenic non-coding RNA LINC00536, at approximately 300 kb from the TRPS1 5’ end. Conversely, the 2p16.1 breakpoint mapped within a LINE sequence, in a region that lacks transcriptional regulatory elements. As a result of the translocation, nucleotide base pair additions and deletions were detected at both breakpoint junction fragments, and an evolutionarily conserved VISTA enhancer element from 2p16.1 was relocated at approximately 325 kb from the TRPS1 promoter. Conclusions We suggest that the disruption of the genomic architecture of cis regulatory elements downstream the TRPS1 5′ region, combined with the translocation of a novel enhancer element nearby TRPS1, might be the pathogenetic mechanism underpinning the proband’s phenotype. The clinical and genetic characterisation of the present subject allowed us to make a genetic diagnosis in the context of a known syndrome, contributing to a better comprehension of the complex transcriptional regulation of TRPS1 and TRPS ethiopathogenesis.
- Published
- 2014
32. Craniofacial modifications in children with habitual snoring and obstructive sleep apnoea: a case-control study
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Giliola Calori, Alberto Caprioglio, Luigi Ferini-Strambi, Marco Zucconi, C. Castronovo, Salvatore Smirne, Alessandro Oldani, Zucconi, M, Caprioglio, A, Calori, G, FERINI STRAMBI, Luigi, Oldani, A, Castronovo, C, and Smirne, S.
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Pulmonary and Respiratory Medicine ,Cephalometry ,Polysomnography ,Dentistry ,Sleep Apnea Syndromes ,medicine ,Humans ,Craniofacial ,Child ,Children ,medicine.diagnostic_test ,business.industry ,Obstructive sleep apnoea ,Snoring ,Case-control study ,Apnea ,Craniometry ,Airway obstruction ,medicine.disease ,Sleep in non-human animals ,nervous system diseases ,respiratory tract diseases ,El Niño ,Jaw ,Case-Control Studies ,Child, Preschool ,Pharynx ,medicine.symptom ,business - Abstract
Habitual snoring and obstructive sleep apnoea in children, which are frequently associated with adenotonsillar hypertrophy, may begin early in life and in relation with orocraniofacial features. The aim of this study was to detect the presence of early bone craniofacial modifications in young children with a long history of habitual snoring. Twenty-six habitually snoring children (mean age 4.6 yrs) were studied by nocturnal portable recording or diurnal polysomnography, cephalometry and orthodontic evaluation. A comparison of cephalometric findings was made between the studied group and 26 age-matched children (mean age 5.1 yrs) with no history of snoring or respiratory problems during sleep. The cephalometric analyses showed a significant increase in craniomandibular intermaxillar, lower and upper goniac angles with a retroposition and posterior rotation of the mandible (high angle face) and a reduction in the rhinopharynx space caused by higher thickness of adenoids in habitually snoring children compared with controls. Cross-bites and labial incompetence as well as daytime symptoms and familiarity for habitual snoring were found in most of the studied group of snorers compared with controls. The results indicate that upper airway obstruction during sleep is associated with mild but significant cephalometric and craniofacial modifications in children complaining of habitual snoring. Whether this skeletal conformation is genetically determined or influenced by the early onset of habitual snoring remains to be assessed.
- Published
- 1999
33. Nocturnal frontal lobe epilepsy misdiagnosed as sleep apnea syndrome
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Luigi Ferini-Strambi, Alessandro Oldani, C. Castronovo, Marco Zucconi, Oldani, A, Zucconi, M, Castronovo, C, and FERINI STRAMBI, Luigi
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Male ,Sleep Wake Disorders ,Pediatrics ,medicine.medical_specialty ,Epilepsy, Frontal Lobe ,Polysomnography ,Video Recording ,Excessive daytime sleepiness ,Diagnosis, Differential ,Epilepsy ,Sleep Apnea Syndromes ,medicine ,Humans ,Aged ,Sleep disorder ,medicine.diagnostic_test ,business.industry ,Sleep apnea ,General Medicine ,Middle Aged ,medicine.disease ,Sleep in non-human animals ,Obstructive sleep apnea ,Neurology ,Anesthesia ,Neurology (clinical) ,medicine.symptom ,K-complex ,business - Abstract
Some clinical features as the awakenings with feeling of choking, the abnormal motor activity during sleep and the excessive daytime sleepiness are relatively common both in obstructive sleep apnea syndrome and in nocturnal frontal lobe epilepsy. In these cases, a full-night video-polysomnographic monitoring is of the utmost importance to provide a differential diagnosis between the two conditions, and to verify, in the case of the co-existence of the two disorders, which is the one responsible for sleep disruption. In the present case reports, we described 2 patients referred to our Sleep Disorders Center with the above mentioned clinical features and with a previous clinical diagnosis of obstructive sleep apnea syndrome. After the recording of them, by means of full-night video-polysomnography, they were both diagnosed as having nocturnal frontal lobe epilepsy as the main sleep disorder and then successfully treated with carbamazepine.
- Published
- 1998
34. Physiological and behavioral responses to minor stressors in offspring of patients with panic disorder
- Author
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Giovanna Vanni, Laura Bellodi, Francesca Brambilla, Luigi Ferini Strambi, Marco Battaglia, C. Castronovo, Sonia Bajo, Battaglia, MARCO MARIA, Bajo, S, FERINI STRAMBI, L, Brambilla, F, Castronovo, C, Vanni, G, and Bellodi, L
- Subjects
Cortisol secretion ,Male ,Hydrocortisone ,Offspring ,Autonomic Nervous System ,Personality Assessment ,Developmental psychology ,Child of Impaired Parents ,Heart Rate ,Reference Values ,Risk Factors ,Adaptation, Psychological ,medicine ,Humans ,Child ,Saliva ,Social Behavior ,Biological Psychiatry ,Panic disorder ,Respiration ,Panic ,medicine.disease ,Psychiatry and Mental health ,Distress ,Anxiogenic ,Child, Preschool ,Anxiety ,Panic Disorder ,Female ,medicine.symptom ,Psychology ,Arousal ,Anxiety disorder ,Stress, Psychological ,Clinical psychology - Abstract
Nineteen children born to patients with panic disorder and a comparison group of 16 children born to unaffected, non-psychiatric patient subjects exposed to novel and mildly stressful situations (visiting an unfamiliar place and watching a movie containing anxiogenic scenes) were assessed for their behaviors, heart rate, respiratory rate and salivary cortisol secretion. At arrival children born to patients with panic disorder had significantly longer latency of first spontaneous verbal comment, fewer prosocial behavior, and increased distress and attachment behavior. During the projection of the movie, children of the two groups differed for attachment, distress, and exploration behaviors. During the anxiogenic scenes children born to patients with panic disorder showed increased behavioral inhibition and higher heart rate. Autonomic modulation, respiratory rates and cortisol secretion were similar in the two groups. Some distinct psychophysiological patterns may constitute early manifestations of the transmitted liability to panic disorder. (C) 1997 Elsevier Science Ltd. Z8 0 ZR 0 ZB 29 ZS 3
- Published
- 1997
35. Triazolam and melatonin effects on cardiac autonomic function during sleep
- Author
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C. Castronovo, Marco Zucconi, Bojidar Stankov, Salvatore Smirne, Franco Fraschini, Alessandro Oldani, Luigi Ferini-Strambi, FERINI STRAMBI, Luigi, Oldani, A, Zucconi, M, Stankov, B, Castronovo, C, Fraschini, F, and Smirne, S.
- Subjects
Adult ,Male ,medicine.medical_specialty ,Triazolam ,medicine.drug_class ,Non-rapid eye movement sleep ,Bedtime ,Hypnotic ,Melatonin ,Internal medicine ,Heart rate ,Medicine ,Humans ,Pharmacology (medical) ,Vagal tone ,Pharmacology ,business.industry ,Heart ,Autonomic nervous system ,Endocrinology ,Neurology (clinical) ,business ,Sleep ,medicine.drug - Abstract
After benzodiazepine (BDZ) administration, a decrease in cardiac vagal tone has been described during wakefulness, but data on cardiac autonomic function during sleep are lacking. Melatonin (MLT), reported to have hypnotic properties, caused an increase in vagal tone in animals. The aim of this study was to evaluate heart rate (HR) variability during sleep after a single bedtime dose of triazolam (TRI, 0.125 mg) and MLT (100 mg) in six healthy young subjects. We evaluated tonic (vagal activity) HR modifications in relation to sleep as well as phasic (sympathetic activity) HR modifications in relation to spontaneous body movements during rapid-eye-movement (REM) and non-REM (NREM) sleep. No significant change in sympathetic activity was observed after TRI and MLT in comparison with placebo, whereas TRI caused a significant decrease in vagal tone during sleep. Our nocturnal study seems to confirm previous diurnal findings about a decrease in vagal tone by BDZs.
- Published
- 1995
36. Validity of diurnal sleep recording performed by an ambulatory device in the diagnosis of obstructive sleep apnoea
- Author
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M. Sergi, M. Greco, C. Castronovo, Luigi Ferini-Strambi, M. Bamberga, A. Andreoli, Maurizio Rizzi, Sergi, M, Rizzi, M, Greco, M, Andreoli, A, Bamberga, M, Castronovo, C, and FERINI STRAMBI, Luigi
- Subjects
Male ,Pulmonary and Respiratory Medicine ,Polysomnography ,Monitoring, Ambulatory ,Sensitivity and Specificity ,Sleep apnoea syndrome ,Sleep Apnea Syndromes ,stomatognathic system ,Predictive Value of Tests ,Medicine ,Humans ,In patient ,Sleep recording ,Oxygen desaturation ,business.industry ,Reproducibility of Results ,Mean age ,Middle Aged ,Sleep in non-human animals ,nervous system diseases ,respiratory tract diseases ,Nap ,Anesthesia ,Ambulatory ,Female ,business - Abstract
The objective of this study was to compare the results of oxygen desaturations and sleep apnoea during a daytime nap (D) versus nocturnal sleep (N) evaluation, recorded by a portable multichannel monitoring device in patients with a clinical suspicion of obstructive sleep apnoea (OSA). Two polysomnographic studies were performed, by means of the Healthdyne NightWatch System, in 82 subjects (mean age 57·9 years). No difference was found in the apnoea + hypopnoea index (AHI) and mean S aO 2 between D and N recordings. At an AHI threshold of 20, in the D recordings, compared to the N ones, the sensitivity was 91% and the specificity 100%. A good correlation was found for AHI and oxygen desaturation index (ODI) between the two experimental conditions ( r =0·89 and 0·79, respectively). Our study shows that D recordings seem to be accurate for OSA diagnosis in the majority of patients with a clinical suspicion of sleep apnoea syndrome.
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