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1. Characterising a Setting with a High Level of Informality, Integrating National and Specialised Surveys, Administrative and Census Data

Author

Paglione, Lorenzo, Cacciani, Laura, Baglio, Giovanni, Brandimarte, Maria Alessandra, Confaloni, Elisabetta, Landi, Adelaide, Salvatori, Livia Maria, Angelozzi, Aurora, Caminada, Susanna, Napoli, Massimo, Errigo, Miriam, Iorio, Silvia, Bargagli, Anna Maria, Marceca, Maurizio, Di Rosa, Enrico, Agabiti, Nera, Davoli, Marina, Battisti, Alessandra, editor, Marceca, Maurizio, editor, and Iorio, Silvia, editor

Published
2020
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5. Adverse Events in Italian Nursing Homes During the COVID-19 Epidemic: A National Survey

Author

Flavia L. Lombardo, Emanuela Salvi, Eleonora Lacorte, Paola Piscopo, Flavia Mayer, Antonio Ancidoni, Giulia Remoli, Guido Bellomo, Gilda Losito, Fortunato D’Ancona, Marco Canevelli, Graziano Onder, Nicola Vanacore, The Italian National Institute of Health Nursing Home Study Group, Ilaria Bacigalupo, Luigi Bertinato, Patrizia Carbonari, Maria Grazia Carella, Annamaria Confaloni, Alessio Crestini, Carla Faralli, Simone Fiaccavento, Silvia Francisci, Cinzia Lo Noce, Paola Luzi, Tania Lopez, Maria Masocco, Monica Mazzola, Ilaria Palazzesi, Luana Penna, Daniela Pierannunzio, Maria Cristina Porrello, Giulia Scaravelli, Andrea Siddu, Sabrina Sipone, Lucia Speziale, Andrea Tavilla, Mauro Palma, Gianluca Pucciarelli, Daniela Accorgi, Catia Bedosti, Gabriella Carraro, Maria Mongardi, and Gianluca Ferrari

Subjects
dementia, adverse events, nursing homes, Long-Term Care Facilities, COVID-19, public health, Psychiatry, RC435-571
Abstract

Older people living in nursing homes (NHs) are particularly vulnerable in the ongoing COVID-19 pandemic, due to the high prevalence of chronic diseases and disabilities (e.g., dementia). The phenomenon of adverse events (AEs), intended as any harm or injury resulting from medical care or to the failure to provide care, has not yet been investigated in NHs during the pandemic. We performed a national survey on 3,292 NHs, either public or providing services both privately and within the national health system, out of the 3,417 NHs covering the whole Italian territory. An online questionnaire was addressed to the directors of each facility between March 24 and April 27, 2020. The list of NHs was provided by the Dementia Observatory, an online map of Italian services for people with dementia, which was one of the objectives of the implementation of the Italian National Dementia Plan. About 26% of residents in the Italian NHs for older people listed within the Dementia Observatory site had dementia. The objective of our study was to report the frequency of AEs that occurred during the months when SARS-CoV-2 spreading rate was at its highest in the Italian NHs and to identify which conditions and attributes were most associated with the occurrence of AEs by means of multivariate regression logistic analysis. Data are referred to 1,356 NHs that participated in the survey. The overall response rate was 41.2% over a time-period of six weeks (from March 24 to May 5). About one third of the facilities (444 out of 1,334) (33.3%) reported at least 1 adverse event, with a total of 2,000 events. Among the included NHs, having a bed capacity higher than the median of 60 beds (OR=1.57, CI95% 1.17–2.09; p=0.002), an observed increased in the use of psychiatric drugs (OR=1.80, CI95% 1.05–3.07; p=0.032), adopting physical restraint measures (OR=1.97, CI95% 1.47–2.64; p

Published
2020
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6. Characterising a Setting with a High Level of Informality, Integrating National and Specialised Surveys, Administrative and Census Data

Author

Paglione, Lorenzo, primary, Cacciani, Laura, additional, Baglio, Giovanni, additional, Brandimarte, Maria Alessandra, additional, Confaloni, Elisabetta, additional, Landi, Adelaide, additional, Salvatori, Livia Maria, additional, Angelozzi, Aurora, additional, Caminada, Susanna, additional, Napoli, Massimo, additional, Errigo, Miriam, additional, Iorio, Silvia, additional, Bargagli, Anna Maria, additional, Marceca, Maurizio, additional, Di Rosa, Enrico, additional, Agabiti, Nera, additional, and Davoli, Marina, additional

Published
2020
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11. Heme Oxygenase-1 and Brain Oxysterols Metabolism Are Linked to Egr-1 Expression in Aged Mice Cortex, but Not in Hippocampus

Author

Paolo Rosa, Chiara Zerbinati, Alessio Crestini, Anna-Maria Canudas, Giuseppe Ragona, Annamaria Confaloni, Luigi Iuliano, and Antonella Calogero

Subjects
Egr-1, aging brain, oxysterols, HO-1, oxidative stress, cortex, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Throughout life, stress stimuli act upon the brain leading to morphological and functional changes in advanced age, when it is likely to develop neurodegenerative disorders. There is an increasing need to unveil the molecular mechanisms underlying aging, in a world where populations are getting older. Egr-1 (early growth response 1), a transcriptional factor involved in cell survival, proliferation and differentiation – with a role also in memory, cognition and synaptic plasticity, can be implicated in the molecular mechanism of the aging process. Moreover, Heme Oxygenase-1a (HO), a 32 kDa heat-shock protein that converts heme to iron, carbon monoxide and biliverdin, is a key enzyme with neuroprotective properties. Several in vitro and in vivo studies reported that HO-1 could regulate the metabolism of oxysterols, oxidation products of cholesterol that include markers of oxidative stress. Recently, a link between Egr-1 and HO-1 has been demonstrated in mouse lung cells exposed to cigarette smoke. In view of these data, we wanted to investigate whether Egr-1 can be implicated also in the oxysterol metabolism during brain aging. Our results show that Egr-1 expression is differently expressed in the cortex and hippocampus of old mice, as well as the oxysterol profile between these two brain areas. In particular, we show that the cortex experiences in an age-dependent fashion increasing levels of the Egr-1 protein, and that these correlate with the level of HO-1 expression and oxysterol abundance. Such a situation was not observed in the hippocampus. These results are further strenghtened by our observations made with Egr-1 KO mice, confirming our hypothesis concerning the influence of Egr-1 on oxysterol production and accumulation via regulation of the expression of HO-1 in the cortex, but not the hippocampus, of old mice. It is important to notice that most of the oxysterols involved in this process are those usually stimulated by oxidative stress, which would then represent the triggering factor for this mechanism.

Published
2018
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12. The impact of a mono-institutional experience in lung metastases treated with stereotactic body radiation therapy (SBRT): a retrospective analysis

Author

Luca Capone, Sara Antonia Allegretta, Federico Bianciardi, Barbara Tolu, Federica Rea, Martina Giraffa, Veronica Confaloni, Giorgio Hamid Raza, Chiara D’Ambrosio, Francesca Cavallo, Domenico Marchesano, Gianmarco Grimaldi, Randa El Gahwary, Elisa Cinelli, Giuseppe Minniti, and Piercarlo Gentile

Subjects
Oncology, Radiological and Ultrasound Technology, Oncology (nursing), Radiology, Nuclear Medicine and imaging
Published
2023
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13. The impact of a mono-institutional experience in lung metastases treated with stereotactic body radiation therapy (SBRT): a retrospective analysis

Author

Capone, Luca, primary, Antonia Allegretta, Sara, additional, Bianciardi, Federico, additional, Tolu, Barbara, additional, Rea, Federica, additional, Giraffa, Martina, additional, Confaloni, Veronica, additional, Raza, Giorgio Hamid, additional, D’Ambrosio, Chiara, additional, Cavallo, Francesca, additional, Marchesano, Domenico, additional, Grimaldi, Gianmarco, additional, El Gahwary, Randa, additional, Cinelli, Elisa, additional, Minniti, Giuseppe, additional, and Gentile, Piercarlo, additional

Published
2023
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16. The Italian dementia with Lewy bodies study group (DLB-SINdem): toward a standardization of clinical procedures and multicenter cohort studies design

Author

Bonanni, L., Cagnin, A., Agosta, F., Babiloni, C., Borroni, B., Bozzali, M., Bruni, A. C., Filippi, M., Galimberti, D., Monastero, R., Muscio, C., Parnetti, L., Perani, D., Serra, L., Silani, V., Tiraboschi, P., Padovani, A., Alberici, A., Alberoni, M., Amici, S., Appollonio, I., Arena, M.G., Arighi, A., Avanzi, S., Bagella, C.F., Baglio, F., Barocco, F., Belardinelli, N., Bonuccelli, U., Bottini, G., Bruno Bossio, R., Bruno, G., Buccomino, D., Cacchiò, G., Calabrese, E., Campanelli, A., Canevelli, M., Canu, E.D.G., Cappa, A., Capra, C., Carapelle, E., Caratozzolo, S., Carbone, G.F.S., Cattaruzza, T., Cerami, C., Cester, A., Cheldi, A., Cherchi, R., Chiari, A., Cirafisi, C., Colao, R., Confaloni, A., Conti, M.Z., Costa, A., Costa, B., Cotelli, M.S., Cova, I., Cravello, L., Cumbo, E., Cupidi, C., De Togni, L., Del Din, G., Del Re, M.L., Dentizzi, C., Di Lorenzo, F., Di Stefano, F., Dikova, N., Farina, E., Floris, G., Foti, A., Franceschi, M., Fumagalli, G.G., Gabelli, C., Ghidoni, E., Giannandrea, D., Giordana, M.T., Giorelli, M., Giubilei, F., Grimaldi, L., Grimaldi, R., Guglielmi, V., Lanari, A., Le Pira, F., Letteri, F., Levi Minzi, G.V., Lorusso, S., Ludovico, L., Luzzi, S., Maggiore, L., Magnani, G., Mancini, G., Manconi, F.M., Manfredi, L., Maniscalco, M., Marano, P., Marcon, M., Marcone, A., Marra, C., Martorana, A., Mascia, M.G., Mascia, V., Mauri, M., Mazzei, B., Meloni, M., Merlo, P., Messa, G., Milia, A., Monacelli, F., Montecalvo, G., Moschella, V., Mura, G., Nemni, R., Nobili, F., Notarelli, A., Di Giacomo, R., Onofrj, M., Paci, C., Padiglioni, C., Perini, M., Perotta, D., Perri, Formenti A., Perri, R., Piccininni, C., Piccoli, T., Pilia, G., Pilotto, A., Poli, S., Pomati, S., Pompanin, S., Pucci, E., Puccio, G., Quaranta, D., Rainero, I., Rea, G., Realmuto, S., Riva, M., Rizzetti, M.C., Rolma, G., Rozzini, L., Sacco, L., Saibene, F.L., Scarpini, E., Sensi, S., Seripa, D., Sinforiani, E., Sorbi, S., Sorrentino, G., Spallazzi, M., Stracciari, A., Talarico, G., Tassinari, T., Thomas, A., Tiezzi, A., Tomassini, P.F., Trebbastoni, A., Tremolizzo, L., Tripi, G., Ursini, F., Vaianella, L., Valluzzi, F., Vezzadini, G., Vista, M., Volontè, M.A., On behalf of DLB-SINdem study group, and Istituto Superiore di Sanità

Published
2017
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17. Circulating miRNAs as Biomarkers for Neurodegenerative Disorders

Author

Margherita Grasso, Paola Piscopo, Annamaria Confaloni, and Michela A. Denti

Subjects
miRNAs, biomarkers, Alzheimer’s disease, Parkinson’s disease, amyotrophic lateral sclerosis, Organic chemistry, QD241-441
Abstract

Neurodegenerative disorders, such as Alzheimer’s disease (AD), Parkinson’s disease (PD) and frontotemporal dementias (FTD), are considered distinct entities, however, there is increasing evidence of an overlap from the clinical, pathological and genetic points of view. All neurodegenerative diseases are characterized by neuronal loss and death in specific areas of the brain, for example, hippocampus and cortex for AD, midbrain for PD, frontal and temporal lobes for FTD. Loss of neurons is a relatively late event in the progression of neurodegenerative diseases that is typically preceded by other events such as metabolic changes, synaptic dysfunction and loss, neurite retraction, and the appearance of other abnormalities, such as axonal transport defects. The brain’s ability to compensate for these dysfunctions occurs over a long period of time and results in late clinical manifestation of symptoms, when successful pharmacological intervention is no longer feasible. Currently, diagnosis of AD, PD and different forms of dementia is based primarily on analysis of the patient’s cognitive function. It is therefore important to find non-invasive diagnostic methods useful to detect neurodegenerative diseases during early, preferably asymptomatic stages, when a pharmacological intervention is still possible. Altered expression of microRNAs (miRNAs) in many disease states, including neurodegeneration, and increasing relevance of miRNAs in biofluids in different pathologies has prompted the study of their possible application as neurodegenerative diseases biomarkers in order to identify new therapeutic targets. Here, we review what is known about the role of miRNAs in the pathogenesis of neurodegeneration and the possibilities and challenges of using these small RNA molecules as a signature for neurodegenerative conditions.

Published
2014
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18. Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation

Author

Galimberti, Daniela, Fenoglio, Chiara, Serpente, Maria, Villa, Chiara, Bonsi, Rossana, Arighi, Andrea, Fumagalli, Giorgio G., Del Bo, Roberto, Bruni, Amalia C., Anfossi, Maria, Clodomiro, Alessandra, Cupidi, Chiara, Nacmias, Benedetta, Sorbi, Sandro, Piaceri, Irene, Bagnoli, Silvia, Bessi, Valentina, Marcone, Alessandra, Cerami, Chiara, Cappa, Stefano F., Filippi, Massimo, Agosta, Federica, Magnani, Giuseppe, Comi, Giancarlo, Franceschi, Massimo, Rainero, Innocenzo, Giordana, Maria Teresa, Rubino, Elisa, Ferrero, Patrizia, Rogaeva, Ekaterina, Xi, Zhengrui, Confaloni, Annamaria, Piscopo, Paola, Bruno, Giuseppe, Talarico, Giuseppina, Cagnin, Annachiara, Clerici, Francesca, Dell’Osso, Bernardo, Comi, Giacomo P., Altamura, A. Carlo, Mariani, Claudio, and Scarpini, Elio

Published
2013
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19. PO-1401 MR-guided adaptive versus CT-guided SBRT for prostate cancer: where is cost-benefit balance?

Author

Castelluccia, A., primary, Marchesano, D., additional, Grimaldi, G., additional, Annessi, I., additional, Bianciardi, F., additional, Di Palma, A., additional, Confaloni, V., additional, Rea, F., additional, Tolu, B., additional, Valentino, M., additional, Verna, L., additional, Rago, M., additional, Borrazzo, C., additional, Capone, L., additional, Masi, M., additional, El Gawhary, R., additional, and Gentile, P., additional

Published
2022
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22. MR-guided adaptive versus CT-guided stereotactic radiotherapy for prostate cancer: Where is the best cost-benefit balance?

Author

Castelluccia, A., primary, Marchesano, D., additional, Grimaldi, G., additional, Annessi, I., additional, Bianciardi, F., additional, Di Palma, A., additional, Valentino, M., additional, Verna, L., additional, Confaloni, V., additional, Rea, F., additional, Tolu, B., additional, Borrazzo, C., additional, Rago, M., additional, Masi, M., additional, El Gawhary, R., additional, and Gentile, P.C., additional

Published
2022
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26. A Sex Perspective in Neurodegenerative Diseases: microRNAs as Possible Peripheral Biomarkers

Author

Elena Ortona, Giada Pontecorvi, Paola Piscopo, Alessio Crestini, Alessandra Carè, Valeria Manzini, Maria Bellenghi, Annamaria Confaloni, and Massimo Corbo

Subjects
sex differences, amyotrophic lateral sclerosis, Parkinson's disease, QH301-705.5, Disease, Review, Bioinformatics, Catalysis, Inorganic Chemistry, Sex Factors, microRNA, Medicine, Humans, neurodegenerative diseases, Physical and Theoretical Chemistry, Amyotrophic lateral sclerosis, Biology (General), Molecular Biology, QD1-999, Spectroscopy, business.industry, Incidence (epidemiology), Organic Chemistry, Perspective (graphical), biomarkers, General Medicine, medicine.disease, Sex specific, Computer Science Applications, Peripheral, microRNAs, Chemistry, Parkinson’s disease, business, Alzheimer’s disease
Abstract

Sex is a significant variable in the prevalence and incidence of neurological disorders. Sex differences exist in neurodegenerative disorders (NDs), where sex dimorphisms play important roles in the development and progression of Alzheimer’s disease, Parkinson’s disease, and amyotrophic lateral sclerosis. In the last few years, some sex specific biomarkers for the identification of NDs have been described and recent studies have suggested that microRNA (miRNA) could be included among these, as influenced by the hormonal and genetic background. Failing to consider the possible differences between males and females in miRNA evaluation could introduce a sex bias in studies by not considering some of these sex-related biomarkers. In this review, we recapitulate what is known about the sex-specific differences in peripheral miRNA levels in neurodegenerative diseases. Several studies have reported sex-linked disparities, and from the literature analysis miR-206 particularly has been shown to have a sex-specific involvement. Hopefully, in the near future, patient stratification will provide important additional clues in diagnosis, prognosis, and tailoring of the best therapeutic approaches for each patient. Sex-specific biomarkers, such as miRNAs, could represent a useful tool for characterizing subgroups of patients.

Published
2021

40. M2 receptor activation counteracts the glioblastoma cancer stem cell response to hypoxia condition

Author

Claudia Guerriero, Chiara Limongi, Mario Fiore, Annamaria Confaloni, Paola Piscopo, Ilaria Cristofaro, Alessio Crestini, Ada Maria Tata, and Luciano Conti

Subjects
cancer stem cells, Agonist, medicine.drug_class, M2 muscarinic receptor, Biology, Malignancy, Article, Catalysis, miR-210, lcsh:Chemistry, Inorganic Chemistry, Downregulation and upregulation, Cancer stem cell, Tumor Cells, Cultured, medicine, Humans, Physical and Theoretical Chemistry, Hypoxia, lcsh:QH301-705.5, Molecular Biology, Mitosis, Spectroscopy, Receptor, Muscarinic M2, Brain Neoplasms, hypoxia, Cell growth, Cancer stem cells, Organic Chemistry, MiR-210, glioblastoma, Muscarinic acetylcholine receptor M2, General Medicine, Hypoxia (medical), Hypoxia-Inducible Factor 1, alpha Subunit, medicine.disease, Cell Hypoxia, Computer Science Applications, Oxygen, MicroRNAs, lcsh:Biology (General), lcsh:QD1-999, Neoplastic Stem Cells, Cancer research, medicine.symptom, Glioblastoma
Abstract

Glioblastoma multiforme (GBM) is the most malignant brain tumor. Hypoxic condition is a predominant feature of the GBM contributing to tumor growth and resistance to conventional therapies. Hence, the identification of drugs able to impair GBM malignancy and aggressiveness is considered of great clinical relevance. Previously, we demonstrated that the activation of M2 muscarinic receptors, through the agonist arecaidine propargyl ester (Ape), arrests cell proliferation in GBM cancer stem cells (GSCs). In the present work, we have characterized the response of GSCs to hypoxic condition showing an upregulation of hypoxia-inducible factors and factors involved in the regulation of GSCs survival and proliferation. Ape treatment in hypoxic conditions is however able to inhibit cell cycle progression, causing a significant increase of aberrant mitosis with consequent decreased cell survival. Additionally, qRT-PCR analysis suggest that Ape downregulates the expression of stemness markers and miR-210 levels, one of the main regulators of the responses to hypoxic condition in different tumor types. Our data demonstrate that Ape impairs the GSCs proliferation and survival also in hypoxic condition, negatively modulating the adaptive response of GSCs to hypoxia.

Published
2020
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41. Pharmacogenomics in Alzheimer's disease: a genome-wide association study of response to cholinesterase inhibitors

Author

Martinelli-Boneschi, Filippo, Giacalone, Giacomo, Magnani, Giuseppe, Biella, Gloria, Coppi, Elisabetta, Santangelo, Roberto, Brambilla, Paola, Esposito, Federica, Lupoli, Sara, Clerici, Francesca, Benussi, Luisa, Ghidoni, Roberta, Galimberti, Daniela, Squitti, Rosanna, Confaloni, Annamaria, Bruno, Giuseppe, Pichler, Sabrina, Mayhaus, Manuel, Riemenschneider, Matthias, Mariani, Claudio, Comi, Giancarlo, Scarpini, Elio, Binetti, Giuliano, Forloni, Gianluigi, Franceschi, Massimo, and Albani, Diego

Published
2013
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45. Role of non-echo-planar diffusion-weighted images in the identification of recurrent cholesteatoma of the temporal bone

Author

Veronica Confaloni, Andrea Romano, Giulia Butera, Edoardo Covelli, Maria Camilla Rossi-Espagnet, Alessandro Bozzao, and Maurizio Barbara

Subjects
Adult, Male, Reoperation, non-EPI DWI-MRI, cholesteatoma, second-look surger, Adolescent, Sensitivity and Specificity, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Region of interest, Recurrence, Temporal bone, medicine, Humans, Radiology, Nuclear Medicine and imaging, cardiovascular diseases, Prospective Studies, Child, Neuroradiology, Temporal cortex, Observer Variation, Cholesteatoma, Middle Ear, business.industry, Ultrasound, Cholesteatoma, Temporal Bone, General Medicine, Middle Aged, medicine.disease, medicine.anatomical_structure, Diffusion Magnetic Resonance Imaging, ROC Curve, 030220 oncology & carcinogenesis, Coronal plane, Middle ear, Female, Nuclear medicine, business
Abstract

The aim of the present prospective study was to verify the specificity of non-EPI DWI-MRI in patients operated for middle ear CHO who showed positivity at imaging performed 6 to 9 months after surgery and underwent second-look surgery. All patients underwent 1.5-T non-EPI DWI-MRI 6 to 9 months after surgery: those showing a hyper-intense signal in the middle ear underwent a revision surgery, whilst the others are still under radiological follow-up and were not considered in this study. Two radiologists independently evaluated the images; both placed a standard region of interest inside the brightest part of the observed signal alteration on coronal HASTE-DWI images. The mean and maximum signal intensity values on the DWI images were recorded for each patient. A signal intensity ratio was calculated using the inferior temporal cortex and the background noise. One hundred and forty-three subjects were evaluated for a total of 210 ears. In 116 (170 ears), a normal non-EPI DWI-MRI was found with exclusion from this study, whilst twenty-seven subjects showed a high signal lesion inside the middle ear and underwent revision surgery. According to the ROC analysis, SI, SIRT and SIRTmax showed the best statistical values in comparison with the other parameters. Residual/recurrent CHO can be accurately detected using quantitative evaluation of non-EPI DWI-MRI.

Published
2019

48. Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family

Author

Nicoletta Smirne, Maura Gallo, Livia Bernardi, Maria Anfossi, Annamaria Confaloni, Giusi Torchia, Paola Piscopo, Maria Elena Conidi, Francesca Frangipane, Chiara Cupidi, Raffaele Di Lorenzo, Alessandra Clodomiro, Raffaele Maletta, Amalia C Bruni, Maria Gabriella Muraca, Sabrina A.M. Curcio, Maria Mirabelli, Gianfranco Puccio, Paola Mandich, Rosanna Colao, and Franca Vasso

Subjects
Male, Apolipoprotein E, Heterozygote, Disease, Biology, Asymptomatic, Article, Amyloid beta-Protein Precursor, Alzheimer Disease, medicine, Humans, Aged, Dominance (genetics), Genetics, TREM2, Homozygote, Heterozygote advantage, Middle Aged, medicine.disease, Phenotype, Pedigree, Mutation, Female, Neurology (clinical), Alzheimer's disease, medicine.symptom
Abstract

Objective: To report, for the first time, a large autosomal dominant Alzheimer disease (AD) family in which the APP A713T mutation is present in the homozygous and heterozygous state. To date, the mutation has been reported as dominant, and in the heterozygous state associated with familial AD and cerebrovascular lesions. Methods: The family described here has been genealogically reconstructed over 6 generations dating back to the 19th century. Plasma β-amyloid peptide was measured. Sequencing of causative AD genes was performed. Results: Twenty-one individuals, all but 1 born from 2 consanguineous unions, were studied: 8 were described as affected through history, 5 were studied clinically and genetically, and 8 were asymptomatic at-risk subjects. The A713T mutation was detected in the homozygous state in 3 patients and in the heterozygous state in 8 subjects (6 asymptomatic and 2 affected). Conclusions: Our findings, also supported by the β-amyloid plasma assay, confirm (1) the pathogenic role of the APP A713T mutation, (2) the specific phenotype (AD with cerebrovascular lesions) associated with this mutation, and (3) the large span of age at onset, not influenced by APOE , TOMM40 , and TREM2 genes. No substantial differences concerning clinical phenotype were evidenced between heterozygous and homozygous patients, in line with the classic definition of dominance. Therefore, in this study, AD followed the classic definition of a dominant disease, contrary to that reported in a previously described AD family with recessive APP mutation. This confirms that genetic AD may be considered a disease with dominant and recessive traits of inheritance.

Published
2015
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49. The Italian dementia with Lewy bodies study group (DLB-SINdem): toward a standardization of clinical procedures and multicenter cohort studies design

Author

Bonanni, L, Cagnin, A., Agosta, F., Babiloni, C., Borroni, B., Bozzali, M., Bruni, A. C., Filippi, M., Galimberti, D., Monastero, R., Muscio, C., Parnetti, L., Perani, D., Serra, L., Silani, V., Tiraboschi, P., Padovani, A., On behalf of DLB SINdem study group, Null, Alberici, A., Alberoni, M., Amici, S., Appollonio, I., Arena, M. G., Arighi, A., Avanzi, S., Bagella, C. F., Baglio, F., Barocco, F., Belardinelli, N., Bonuccelli, U., Bottini, G., Bruno Bossio, R., Bruno, G., Buccomino, D., Cacchiò, G., Calabrese, E., Campanelli, A., Canevelli, M., Canu, E. D. G., Cappa, A., Capra, C., Carapelle, E., Caratozzolo, S., Carbone, G. F. S., Cattaruzza, T., Cerami, C., Cester, A., Cheldi, A., Cherchi, R., Chiari, A., Cirafisi, C., Colao, R., Confaloni, A., Conti, M. Z., Costa, A., Costa, B., Cotelli, M. S., Cova, I., Cravello, L., Cumbo, E., Cupidi, C., De Togni, L., Del Din, G., Del Re, M. L., Dentizzi, C., Di Lorenzo, F., Di Stefano, F., Dikova, N., Farina, E., Floris, G., Foti, A., Franceschi, M., Fumagalli, G. G., Gabelli, C., Ghidoni, E., Giannandrea, D., Giordana, M. T., Giorelli, M., Giubilei, F., Grimaldi, L., Grimaldi, R., Guglielmi, V., Lanari, A., Le Pira, F., Letteri, F., Levi Minzi, G. V., Lorusso, S., Ludovico, L., Luzzi, S., Maggiore, L., Magnani, G., Mancini, G., Manconi, F. M., Manfredi, L., Maniscalco, M., Marano, P., Marcon, M., Marcone, A., Marra, C., Martorana, A., Mascia, M. G., Mascia, V., Mauri, M., Mazzei, B., Meloni, M., Merlo, P., Messa, G., Milia, A., Monacelli, F., Montecalvo, G., Moschella, V., Mura, G., Nemni, R., Nobili, F., Notarelli, A., Di Giacomo, R., Onofrj, M., Paci, C., Padiglioni, C., Perini, M., Perotta, D., Perri, Formenti A., Perri, R., Piccininni, C., Piccoli, T., Pilia, G., Pilotto, A., Poli, S., Pomati, S., Pompanin, S., Pucci, E., Puccio, G., Quaranta, D., Rainero, I., Rea, G., Realmuto, S., Riva, M., Rizzetti, M. C., Rolma, G., Rozzini, L., Sacco, L., Saibene, F. L., Scarpini, E., Sensi, S., Seripa, D., Sinforiani, E., Sorbi, S., Sorrentino, Giuseppe, Spallazzi, M., Stracciari, A., Talarico, G., Tassinari, T., Thomas, A., Tiezzi, A., Tomassini, P. F., Trebbastoni, A., Tremolizzo, L., Tripi, G., Ursini, F., Vaianella, L., Valluzzi, F., Vezzadini, G., Vista, M., Volontè, M. A., Bonanni, L, Cagnin, A, Agosta, F, Babiloni, C, Borroni, B, Bozzali, M, Bruni, A, Filippi, M, Galimberti, D, Monastero, R, Muscio, C, Parnetti, L, Perani, D, Serra, L, Silani, V, Tiraboschi, P, Padovani, A, Alberici, A, Alberoni, M, Amici, S, Appollonio, I, Arena, M, Arighi, A, Avanzi, S, Bagella, C, Baglio, F, Barocco, F, Belardinelli, N, Bonuccelli, U, Bottini, G, Bruno Bossio, R, Bruno, G, Buccomino, D, Cacchiò, G, Calabrese, E, Campanelli, A, Canevelli, M, Canu, E, Cappa, A, Capra, C, Carapelle, E, Caratozzolo, S, Carbone, G, Cattaruzza, T, Cerami, C, Cester, A, Cheldi, A, Cherchi, R, Chiari, A, Cirafisi, C, Colao, R, Confaloni, A, Conti, M, Costa, A, Costa, B, Cotelli, M, Cova, I, Cravello, L, Cumbo, E, Cupidi, C, de Togni, L, Del Din, G, Del Re, M, Dentizzi, C, Di Lorenzo, F, Di Stefano, F, Dikova, N, Farina, E, Floris, G, Foti, A, Franceschi, M, Fumagalli, G, Gabelli, C, Ghidoni, E, Giannandrea, D, Giordana, M, Giorelli, M, Giubilei, F, Grimaldi, L, Grimaldi, R, Guglielmi, V, Lanari, A, Le Pira, F, Letteri, F, Levi Minzi, G, Lorusso, S, Ludovico, L, Luzzi, S, Maggiore, L, Magnani, G, Mancini, G, Manconi, F, Manfredi, L, Maniscalco, M, Marano, P, Marcon, M, Marcone, A, Marra, C, Martorana, A, Mascia, M, Mascia, V, Mauri, M, Mazzei, B, Meloni, M, Merlo, P, Messa, G, Milia, A, Monacelli, F, Montecalvo, G, Moschella, V, Mura, G, Nemni, R, Nobili, F, Notarelli, A, Di Giacomo, R, Onofrj, M, Paci, C, Padiglioni, C, Perini, M, Perotta, D, Perri, F, Perri, R, Piccininni, C, Piccoli, T, Pilia, G, Pilotto, A, Poli, S, Pomati, S, Pompanin, S, Pucci, E, Puccio, G, Quaranta, D, Rainero, I, Rea, G, Realmuto, S, Riva, M, Rizzetti, M, Rolma, G, Rozzini, L, Sacco, L, Saibene, F, Scarpini, E, Sensi, S, Seripa, D, Sinforiani, E, Sorbi, S, Sorrentino, G, Spallazzi, M, Stracciari, A, Talarico, G, Tassinari, T, Thomas, A, Tiezzi, A, Tomassini, P, Trebbastoni, A, Tremolizzo, L, Tripi, G, Ursini, F, Vaianella, L, Valluzzi, F, Vezzadini, G, Vista, M, Volontè, M, Bruni, Ac, DLB-SINdem study, Group, Bruni, AC, and Padovani, A - On behalf of DLB-SINdem study group

Subjects
Lewy Body Disease, medicine.medical_specialty, Pediatrics, Dementia with Lewy bodie, Dementia with Lewy bodies, Dermatology, Cohort Studies, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Alzheimer Disease, Surveys and Questionnaires, mental disorders, Standardization of diagnostic procedures, Diagnosis, Survey, Disease Management, Humans, Italy, Research Design, 2708, Neurology (clinical), Psychiatry and Mental Health, medicine, Dementia, 030212 general & internal medicine, MED/01 - STATISTICA MEDICA, MED/26 - NEUROLOGIA, business.industry, Standardization of diagnostic procedure, General Medicine, medicine.disease, Settore MED/26 - NEUROLOGIA, Cohort, Differential, Physical therapy, Delirium, Alzheimer's disease, medicine.symptom, business, 030217 neurology & neurosurgery, Frontotemporal dementia, Cohort study
Abstract

Dementia with Lewy bodies (DLB) causes elevated outlays for the National Health Systems due to high institutionalization rate and patients' reduced quality of life and high mortality. Furthermore, DLB is often misdiagnosed as Alzheimer's disease. These data motivate harmonized multicenter longitudinal cohort studies to improve clinical management and therapy monitoring. The Italian DLB study group of the Italian Neurological Society for dementia (SINdem) developed and emailed a semi-structured questionnaire to 572 national dementia centers (from primary to tertiary) to prepare an Italian large longitudinal cohort. The questionnaire surveyed: (1) prevalence and incidence of DLB; (2) clinical assessment; (3) relevance and availability of diagnostic tools; (4) pharmacological management of cognitive, motor, and behavioural disturbances; (5) causes of hospitalization, with specific focus on delirium and its treatment. Overall, 135 centers (23.6 %) contributed to the survey. Overall, 5624 patients with DLB are currently followed by the 135 centers in a year (2042 of them are new patients). The percentage of DLB patients was lower (27 ± 8 %) than that of Alzheimer's disease and frontotemporal dementia (56 ± 27 %) patients. The majority of the centers (91 %) considered the clinical and neuropsychological assessments as the most relevant procedure for a DLB diagnosis. Nonetheless, most of the centers has availability of magnetic resonance imaging (MRI; 95 %), electroencephalography (EEG; 93 %), and FP-CIT single photon emission-computerized tomography (SPECT; 75 %) scan for clinical applications. It will be, therefore, possible to recruit a large harmonized Italian cohort of DLB patients for future cross-sectional and longitudinal multicenter studies.

Published
2017

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