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4. Hand grip support for rehabilitation and assistance: from patent to TRL5

Author

Gandolla, M, Mariani, C, Pozzi, L, Mancini, M, Foglia, G M, and Pedrocchi, A

Subjects
Upper Extremity, Hand Strength, electromagnets, Humans, hand assistance, activities of daily living, Hand, hand rehabilitation
Abstract

In the last decades, the continuous increase in the number of the vast cohort of chronic patients that constantly need medical assistance and supervision, and the widespread lack of therapist has brought to an increased interest in the role of medical technologies in rehabilitative programs and assistive scenarios. Current clinical evidence in rehabilitation demonstrates that there is an important and increasing demand for innovative therapeutic solutions to recover the hand functions to prevent patients to need assistance in performing daily life activities. This works describes the pathway from patent to TRL5 of a device to support hand grip actions and interaction with daily life objects. E-KIRO is based on the use of electromagnets, which are able to attach/detach interactive objects equipped with a ferromagnetic plate. Five end-users used the device and scored it with excellent usability based on the System Usability Scale.

Published
2022

5. Burden of rare variants in ALS and axonal hereditary neuropathy genes influence survival in ALS: Insights from a next generation sequencing study of an Italian ALS cohort

Author

Scarlino, S, Domi, T, Pozzi, L, Romano, A, Pipitone, G, Falzone, Y, Mosca, L, Penco, S, Lunetta, C, Sansone, V, Tremolizzo, L, Fazio, R, Agosta, F, Filippi, M, Carrera, P, Riva, N, Quattrini, A, Scarlino S., Domi T., Pozzi L., Romano A., Pipitone G. B., Falzone Y. M., Mosca L., Penco S., Lunetta C., Sansone V., Tremolizzo L., Fazio R., Agosta F., Filippi M., Carrera P., Riva N., Quattrini A., Scarlino, S, Domi, T, Pozzi, L, Romano, A, Pipitone, G, Falzone, Y, Mosca, L, Penco, S, Lunetta, C, Sansone, V, Tremolizzo, L, Fazio, R, Agosta, F, Filippi, M, Carrera, P, Riva, N, Quattrini, A, Scarlino S., Domi T., Pozzi L., Romano A., Pipitone G. B., Falzone Y. M., Mosca L., Penco S., Lunetta C., Sansone V., Tremolizzo L., Fazio R., Agosta F., Filippi M., Carrera P., Riva N., and Quattrini A.

Abstract

Although the genetic architecture of amyotrophic lateral sclerosis (ALS) is incompletely understood, recent findings suggest a complex model of inheritance in ALS, which is consistent with a multistep pathogenetic process. Therefore, the aim of our work is to further explore the architecture of ALS using targeted next generation sequencing (NGS) analysis, enriched in motor neuron diseases (MND)-associated genes which are also implicated in axonal hereditary motor neuropathy (HMN), in order to investigate if disease expression, including the progression rate, could be influenced by the combination of multiple rare gene variants. We analyzed 29 genes in an Italian cohort of 83 patients with both familial and sporadic ALS. Overall, we detected 43 rare variants in 17 different genes and found that 43.4% of the ALS patients harbored a variant in at least one of the investigated genes. Of note, 27.9% of the variants were identified in other MND-and HMN-associated genes. Moreover, multiple gene variants were identified in 17% of the patients. The burden of rare variants is associated with reduced survival and with the time to reach King stage 4, i.e., the time to reach the need for percutaneous endoscopic gastrostomy (PEG) positioning or non-invasive mechanical ventilation (NIMV) initiation, independently of known negative prognostic factors. Our data contribute to a better understanding of the molecular basis of ALS supporting the hypothesis that rare variant burden could play a role in the multistep model of disease and could exert a negative prognostic effect. Moreover, we further extend the genetic landscape of ALS to other MND-associated genes traditionally implicated in degenerative diseases of peripheral axons, such as HMN and CMT2.

Published
2020

6. Eating Disorders and bariatric surgery

Author

1. Ballardini D., Pozzi L., Dapporto E., Tomba E, Manzato, E., Cuzzolaro M., Donini L, and 1. Ballardini D., Pozzi L., Dapporto E., Tomba E

Subjects
digestive, oral, and skin physiology, eating disorders, bariatric surgery, obesity
Abstract

Many studies have shown that patients with severe obesity who are candidates for bariatric surgery are frequently affected by eating disorders which can persist even after surgery. Furthermore, bariatric patients can develop EDs and dysfunctional eating behaviours in the post-bariatric phase: EDs (BED, AN, BN, NES), LOC, grazing, picking, emotional eating, craving and sweet eating. The presence of eating disorders and dysfunctional eating behaviours may influence the outcomes in terms of weight loss and metabolic parameters. After the description of an illustrative clinical case of a patient with pre-surgical BED and post-surgical BN, the need for a multidisciplinary and structured diagnostic-therapeutic programme for the bariatric patient is discussed in order to prevent or treat feeding and eating disorders. The importance of a multidisciplinary team (physician, dietician, psychotherapist, psychiatrist) is also highlighted in the management and treatment of these patients.

Published
2021

21. T05.01.6 PREVALENCE AND RISK FACTORS FOR PRENEOPLASTIC AND NEOPLASTIC LESIONS OF THE COLON AND RECTUM IN PATIENTS UNDER 50 REFERRED FOR COLONOSCOPY

Author

Agazzi, S., primary, Lenti, M.V., additional, Klersy, C., additional, Strada, E., additional, Pozzi, L., additional, Rovedatti, L., additional, Costa, S., additional, Costetti, M., additional, Bardone, M., additional, Mauro, A., additional, De Grazia, F., additional, and Di Sabatino, A., additional

Published
2020
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22. T01.01.20 NARROW BAND IMAGING VS HIGH-DEFINITION WHITE-LIGHT ENDOSCOPY FOR THE DETECTION OF EPITHELIAL AND ENDOCRINE NEOPLASTIC LESIONS IN PATIENTS WITH AUTOIMMUNE ATROPHIC GASTRITIS: A PROSPECTIVE SINGLE-CENTRE STUDY

Author

De Grazia, F., primary, Mauro, A., additional, Rovedatti, L., additional, Lenti, M.V., additional, Pozzi, L., additional, Strada, E., additional, Bardone, M., additional, Costetti, M., additional, Miceli, E., additional, and Di Sabatino, A., additional

Published
2020
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26. T03.02.4 SURVEILLANCE AND CONTROL OF INFECTION AND COLONIZATION BY MDR GERMS IN PATIENTS UNDERGOING TO ERCP: EFFECTIVENESS OF MEASURES OF INFECTION CONTROL

Author

De Grazia, F., primary, Ragni, S., additional, Marone, P., additional, Bardone, M., additional, Mauro, A., additional, Strada, E., additional, Rovedatti, L., additional, Pozzi, L., additional, Seminari, E., additional, Corbella, M., additional, Marena, C., additional, Muzzi, A., additional, and Di Sabatino, A., additional

Published
2020
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29. Engaging and Disengaging with Colonial Pasts in City Museums

Author

Ariese, C.E., Bukowiecki, Ł., Pozzi, L., and ASH (FGw)

Abstract

This paper aims to discuss the preliminary results of the research conducted within the Horizon2020 ECHOES Project by the members of work package 3 on the topic of ‘City Museums and Multiple Colonial Pasts.’ Beyond presenting preliminary results, the paper also describes the approaches of each of the researchers and analyzes some of the challenges encountered collectively while working on the three case studies at the basis of this work package. Work package 3 (WP3) focuses on how city museums around the globe represent and engage with the colonial pasts of cities which experienced colonialism or even ‘multiple colonialisms,’ one of the key concepts of the ECHOES project. Do these museum institutions act as cultural brokers able to tackle the problem of representing entangled global histories, identities, and emotions, or conversely do they support more traditional national perspectives? How do city museums in different countries collect, exhibit, study, and engage with urban colonial heritage? Our aim is to answer these questions through qualitative comparative analyses of three city museums, focusing on all aspects such as their histories, development, collections, leading narratives, political-cultural contexts, organizational policies, outreach activities, and the reception of museum products and activities by the public. The three city museums each represent distinct colonial destinies and positions within colonial history.

Published
2019

31. P.01.33 SUCCESSFUL APPLICATION OF LAPAROSCOPIC AND ENDOSCOPIC COOPERATIVE SURGERY (LECS) FOR A GASTROINTESTINAL STROMAL TUMOR (GIST) OF THE STOMACH

Author

De Grazia, F., primary, Rovedatti, L., additional, Agazzi, S., additional, Viganò, J., additional, Bardone, M., additional, Lenti, M.V., additional, Cococcia, S., additional, Giuffrida, P., additional, Pozzi, L., additional, Strada, E., additional, Dionigi, P., additional, and Di Sabatino, A., additional

Published
2019
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32. P.05.52 SUCCESSFUL CLOSURE OF ESOPHAGO-JEJUNAL ANASTOMOTIC LEAKAGE BY ENDOSCOPIC VACUUM THERAPY (EVT) WITH ESO-SPONGE SYSTEM: A CASE REPORT

Author

De Grazia, F., primary, Bardone, M., additional, Rovedatti, L., additional, Cococcia, S., additional, Agazzi, S., additional, Pozzi, L., additional, Lenti, M.V., additional, Strada, E., additional, Giuffrida, P., additional, Peri, A., additional, Pietrabissa, A., additional, and Di Sabatino, A., additional

Published
2019
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36. TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation

Author

Pozzi, L, Valenza, F, Mosca, L, Dal Mas, A, Domi, T, Romano, A, Tarlarini, C, Falzone, Y, Tremolizzo, L, Sorarã¹, G, Cerri, F, Ferraro, P, Basaia, S, Agosta, F, Fazio, R, Comola, M, Comi, G, Ferrari, M, Quattrini, A, Lunetta, C, Penco, S, Bonanomi, D, Carrera, P, Riva, N, Riva, N., TREMOLIZZO, LUCIO, Pozzi, L, Valenza, F, Mosca, L, Dal Mas, A, Domi, T, Romano, A, Tarlarini, C, Falzone, Y, Tremolizzo, L, Sorarã¹, G, Cerri, F, Ferraro, P, Basaia, S, Agosta, F, Fazio, R, Comola, M, Comi, G, Ferrari, M, Quattrini, A, Lunetta, C, Penco, S, Bonanomi, D, Carrera, P, Riva, N, Riva, N., and TREMOLIZZO, LUCIO

Abstract

BACKGROUND: TANK-binding kinase 1 (TBK1) gene has been recently identified as a causative gene of amyotrophic lateral sclerosis (ALS).METHODS: We sequenced the TBK1 gene in a cohort of 154 Italian patients with ALS with unclear genetic aetiology. We subsequently assessed the pathogenic potential of novel identified TBK1 variants using functional in vitro studies: expression, targeting and activity were evaluated in patient-derived fibroblasts and in cells transfected with mutated-TBK1 plasmids.RESULTS: We identified novel genomic TBK1 variants including two loss-of-function (LoF) (p.Leu59Phefs*16 and c.358+5G>A), two missense (p.Asp118Asn and p.Ile397Thr) and one intronic variant (c.1644-5_1644-2delAATA), in addition to two previously reported pathogenetic missense variants (p.Lys291Glu and p.Arg357Gln). Functional studies in patient-derived fibroblasts revealed that the c.358+5G>A causes aberrant pre-mRNA processing leading TBK1 haploinsufficiency. Biochemical studies in cellular models showed that the truncating variant p.Leu59Phefs*16 abolishes TBK1 protein expression, whereas the p.Asp118Asn variant severely impairs TBK1 phosphorylation activity. Conversely, the p.Ile397Thr variant displayed enhanced phosphorylation activity, whose biological relevance is not clear.CONCLUSION: The observed frequency of TBK1 LoF variants was 1.3% (2/154), increasing up to 3.2% (5/154) by taking into account also the functional missense variants that we were able to classify as potentially pathogenic, supporting the relevance of TBK1 in the Italian population with ALS.

Published
2017

48. Structural isomerism of Ru(ii)-carbonyl complexes: synthesis, characterization and their antitrypanosomal activities

Author

Barbosa, M. I. F., primary, Correa, R. S., additional, Bastos, T. M., additional, Pozzi, L. V., additional, Moreira, D. R. M., additional, Ellena, J., additional, Doriguetto, A. C., additional, Silveira, R. G., additional, Oliveira, C. R., additional, Kuznetsov, A. E., additional, Malta, V. S., additional, Soares, M. B. P., additional, and Batista, A. A., additional

Published
2017
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