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203. PO-1328 VMAT-SIB boost to the dominant intraprostatic lesion: preliminary results of a dose escalation trial

Author

Bonome, P., primary, Macchia, G., additional, Ferro, M., additional, Cilla, S., additional, Romano, C., additional, Re, A., additional, Picardi, V., additional, Boccardi, M., additional, Pezzulla, D., additional, Cammelli, S., additional, Buwenge, M., additional, Tagliaferri, L., additional, Morganti, A.G., additional, Morganti, A., additional, Valentini, V., additional, and Deodato, F., additional

Published
2021
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204. PD-0887 VMAT Radiotherapy boost in oligometastatic patients with Spinal Metastases: a dose escalation study

Author

Pezzulla, D., primary, Macchia, G., additional, Cilla, S., additional, Boccardi, M., additional, Re, A., additional, Bonome, P., additional, Picardi, V., additional, Ferro, M., additional, Romano, C., additional, Buwenge, M., additional, Cammelli, S., additional, Valentini, V., additional, Valenti, V., additional, Morganti, A., additional, and Deodato, F., additional

Published
2021
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209. P-198 Prevalence of deleterious DPYD variants in patients with gastrointestinal malignancies: Real-world data from a single institution in Italy

Author

Cardone, C., primary, Collina, F., additional, Brogna, M., additional, Casaretti, R., additional, Cassata, A., additional, De Stefano, A., additional, Di Giovanni, I., additional, Nappi, A., additional, Romano, C., additional, Silvestro, L., additional, Viscardi, G., additional, Zanaletti, N., additional, Di Bonito, M., additional, and Avallone, A., additional

Published
2021
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212. Long-term methotrexate use in Rheumatoid Arthritis patients: real-world data from the MARTE study

Author

Serban, T., Allara, R., Azzolini, V., Bellintani, C., Belloli, L., Belai Beyene, N., Bucci, R., Caporali, R., Cappelli, A., Corbelli, V., de Gennaro, F., Fusaro, E., Giusti, A., Govoni, M., Magnani, L., Manzo, C., Romano, C., Rossini, M., Santilli, D., Savi Ola, G., Sinigaglia, L., Bianchi, G., Arnoldi, C., Arrigoni, E., Bajocchi, G., Beccaris, A., Brussino, L., Califano, E., Carlino, G., Castellana, P., Del Piano, M., Delvino, P. G., Denotti, A., Diana, P., Epis, O. M., Fava Lli, E., Foti, R., Ghiringhelli, P., Gilardi, A. G., Iagnocco, A., Idolazzi, L., Italiano, G., Lapadula, G., Lomater, C., Longhi, M., Lupo, A., Malav Olta, N., Manara, M., Marchetta, A., Marcialis, M. R., Mathieu, A., Mazzochi, D., Mosca, M., Muratore, M., Naclerio, C., Nallino, G., Nutile, G., Pendolino, M., Piccolo, S., Ricioppo, A., Romeo, N., Rossini, T., Salvatore, S., Sambataro, A., Sangari, D., Santo, L., Selmi, C. F., Semeraro, A., Serafino, L., Tartarelli, G., Tirri, E., Todoerti, M., Traballi, G., Tropea, S., Zizo, G., Zuccaro, C., Serban, Teodora, Allara, Roberto, Azzolini, Valeria, Bellintani, Claudio, Belloli, Laura, Belai Beyene, Nebiat, Bucci, Romano, Caporali, Roberto, Cappelli, Antonella, Corbelli, Vincenzo, DE Gennaro, Fabio, Fusaro, Enrico, Giusti, Andrea, Govoni, Marcello, Magnani, Luca, Manzo, Ciro, Romano, Ciro, Rossini, Maurizio, Santilli, Daniele, Saviola, Gianantonio, Sinigaglia, Luigi, and Bianchi, Gerolamo

Subjects
Male, rheumatoid arthritis, Time Factors, Cross-sectional study, Arthritis, Arthritis, Rheumatoid, 0302 clinical medicine, Methotrexate, Arthritis, rheumatoid, Long-term care, Citizen science, Intramuscular, Smokers, Subcutaneous, marte study, General Medicine, Postmenopause, Italy, 030220 oncology & carcinogenesis, Rheumatoid arthritis, Antirheumatic Agents, 030211 gastroenterology & hepatology, Female, medicine.drug, musculoskeletal diseases, medicine.medical_specialty, rheumatoid, Injections, Subcutaneous, Injections, Intramuscular, methotrexate, Injections, NO, 03 medical and health sciences, Route of administration, Sex Factors, Internal medicine, medicine, Humans, Dosing, Aged, Rheumatoid, Cross-Sectional Studies, Socioeconomic Factors, rheumatoid arthritis, marte study, methotrexate, business.industry, medicine.disease, Rheumatology, Discontinuation, business
Abstract

BACKGROUND The MARTE study investigated the demographic, clinical, and therapeutic characteristics of rheumatoid arthritis (RA) patients ongoing methotrexate (MTX) treatment for longer than 8 years. METHODS This cross-sectional, observational study considered 587 RA patients from 67 Rheumatology Units across Italy. Data collected included demographic, clinical, and therapeutic characteristics, focusing on MTX prescription patterns (route of administration, dosing regimens, treatment duration, and discontinuation). RESULTS As initial therapy, 90.6% of patients received one conventional synthetic Disease Modifying Anti Rheumatic Drug (csDMARD), with treatment started within the first 3 months from diagnosis in half of the patients. MTX was the first csDMARD in 46.2% of patients. The prevalent route of administration at diagnosis was the intramuscular (60.5%), while at study entry (baseline) 57.6% were receiving subcutaneous MTX. Patients who required a higher MTX dose at study entry were those who received a significantly lower starting MTX dose (P

Published
2021

213. Regional disparity in the axial skeleton of Saurichthyidae and implications for axial regionalization in non‐teleostean actinopterygians

Author

Maxwell, E E, Romano, C, Wu, F‐X, University of Zurich, and Maxwell, E E

Subjects
1105 Ecology, Evolution, Behavior and Systematics, 560 Fossils & prehistoric life, Ecology, Behavior and Systematics, Evolution, Animal Science and Zoology, 10125 Paleontological Institute and Museum, 1103 Animal Science and Zoology
Published
2021
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214. Sero-epidemiological survey on the impact of smoking on SARS-CoV-2 infection and COVID-19 outcomes - The Troina Study Protocol

Author

Polosa R, Tomaselli V, Ferrara P, Romeo AC, Rust S, Saitta D, Caraci F, Romano C, Thangaraju M, Zuccarello P, Rose J, Ferrante M, Belsey J, Cibella F, Interlandi E, and Ferri R

Subjects
smoking impact, seroprevalence, SARS-CoV-2, COVID-19, cotinine, antibody persistence, smoking status
Abstract

Background: After the global spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV2), research has highlighted several aspects of the pandemic, focusing on clinical features and risk factors associated with infection and disease severity. However, emerging results on the role of smoking in SARS-CoV-2 infection susceptibility or Novel Coronavirus Disease 2019 (COVID-19) outcomes are conflicting, and their robustness remains uncertain. Objective: In this context, this study aims at quantifying the proportion of SARS-CoV-2 antibody seroprevalence, studying the changes in antibody levels over time, and analyzing the association between the biochemically verified smoking status and SARS-CoV-2 infection. Methods: The research design involves a 6-month prospective cohort study with serial sampling of the same individuals. Each participant will be surveyed about their demographics and COVID-19- related information, and blood sampling will be collected upon recruitment and at specified follow-up time points (namely, after 8 and 24 weeks). Blood samples will be screened for the presence of SARS-CoV-2 specific antibodies and serum cotinine, being the latter the principal metabolite of nicotine, which will be used to assess participants' smoking status. Results: The study is ongoing. It aims to find a higher antibody prevalence in individuals at high-risk for viral exposure (i.e., healthcare personnel), and to refine current estimates on the association between smoking status and SARS-CoV-2/COVID-19. Conclusions: The added value of this research is that the current smoking status of the population to be studied will be biochemically verified, in order to avoid the bias associated with self-reported smoking status. As such, the results from this survey may provide actionable metric to study the role of smoking in SARS-CoV-2 infection and COVID-19 outcomes, and therefore implement the most appropriate public health measures to control the pandemic. Results may also serve as a reference for future clinical research and the methodology could be exploited in public health sectors and policies.

Published
2021

215. Management of Gastrointestinal and Nutritional Problems in Children With Neurological Impairment: A Survey of Practice

Author

Romano, C. Dipasquale, V. Van Winckel, M. Hulst, J. Broekaert, I. Bronsky, J. Dall'Oglio, L. Mis, N.F. Hojsak, I. Orel, R. Papadopoulou, A. Schaeppi, M. Thapar, N. Wilschanski, M. Sullivan, P. Gottrand, F.

Abstract

OBJECTIVES: The main aim of this study was to determine the impact on clinical practice of the first European Society of Gastroenterology, Hepatology, and Nutrition (ESPGHAN) position paper on the diagnosis and management of nutritional and gastrointestinal problems in children with neurological impairment (NI). METHODS: In this pilot-study, a web-based questionnaire was distributed between November, 2019 and June, 2020, amongst ESPGHAN members using the ESPGHAN newsletter. Fifteen questions covered the most relevant aspects on nutritional management and gastrointestinal issues of children with NI. A descriptive analysis of responses was performed. RESULTS: A total of 150 health professionals from 23 countries responded to the survey. A considerable variation in clinical practice concerning many aspects of nutritional and gastrointestinal management of children with NI was observed. The most frequently used method for diagnosing oropharyngeal dysfunction was the direct observation of meals with or without the use of standardised scores (n = 103). Anthropometric measurements were the most commonly used tools for assessing nutritional status (n = 111). The best treatment for gastroesophageal reflux disease (GERD) was considered to be proton pump inhibitor therapy by most (n = 116) participants. Regarding tube feeding, nearly all respondents (n = 114) agreed that gastrostomy is the best enteral access to be used for long-term enteral feeding. Fundoplication was indicated at the time of gastrostomy placement especially in case of uncontrolled GERD. CONCLUSIONS: More studies are required to address open questions on adequate management of children with NI. Identifying knowledge gaps paves the way for developing updated recommendations and improving patient care. Copyright © 2020 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.

Published
2021

217. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Author

Gillentine, M.A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P, Guo, H, Kim, C.N., Vries, B.B. de, Vissers, L.E.L.M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C.A., Bhat, G., Cobian, K., Bird, L.M., Friedman, J., Wright, M.S., Callewaert, B., Petit, F., Mathieu, S., Afenjar, A., Christensen, C.K., White, K.M., Elpeleg, O., Berger, I., Espineli, E.J., Fagerberg, C., Brasch-Andersen, C., Hansen, L.K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L.M., McKee, S., Mirzaa, G.M., Muss, C., Pappas, J., Peeters, H, Romano, C, Elia, M., Galesi, O., Simon, M.E., Gassen, K.L.I. van, Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I.V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R.K., Nowakowski, T., Bernier, R.A., Eichler, E.E., Gillentine, M.A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P, Guo, H, Kim, C.N., Vries, B.B. de, Vissers, L.E.L.M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C.A., Bhat, G., Cobian, K., Bird, L.M., Friedman, J., Wright, M.S., Callewaert, B., Petit, F., Mathieu, S., Afenjar, A., Christensen, C.K., White, K.M., Elpeleg, O., Berger, I., Espineli, E.J., Fagerberg, C., Brasch-Andersen, C., Hansen, L.K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L.M., McKee, S., Mirzaa, G.M., Muss, C., Pappas, J., Peeters, H, Romano, C, Elia, M., Galesi, O., Simon, M.E., Gassen, K.L.I. van, Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I.V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R.K., Nowakowski, T., Bernier, R.A., and Eichler, E.E.

Abstract

Contains fulltext : 245103.pdf (Publisher’s version ) (Open Access), BACKGROUND: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes are members of gene families, and we hypothesize that those with related molecular function share clinical presentations. METHODS: We tested our hypothesis by considering gene families that have multiple members with an enrichment of de novo variants among NDDs, as determined by previous meta-analyses. One of these gene families is the heterogeneous nuclear ribonucleoproteins (hnRNPs), which has 33 members, five of which have been recently identified as NDD genes (HNRNPK, HNRNPU, HNRNPH1, HNRNPH2, and HNRNPR) and two of which have significant enrichment in our previous meta-analysis of probands with NDDs (HNRNPU and SYNCRIP). Utilizing protein homology, mutation analyses, gene expression analyses, and phenotypic characterization, we provide evidence for variation in 12 HNRNP genes as candidates for NDDs. Seven are potentially novel while the remaining genes in the family likely do not significantly contribute to NDD risk. RESULTS: We report 119 new NDD cases (64 de novo variants) through sequencing and international collaborations and combined with published clinical case reports. We consider 235 cases with gene-disruptive single-nucleotide variants or indels and 15 cases with small copy number variants. Three hnRNP-encoding genes reach nominal or exome-wide significance for de novo variant enrichment, while nine are candidates for pathogenic mutations. Comparison of HNRNP gene expression shows a pattern consistent with a role in cerebral cortical development with enriched expression among radial glial progenitors. Clinical assessment of probands (n = 188-221) expands the phenotypes associated with HNRNP rare va

Published
2021

218. Post-Operative Accelerated-Hypofractionated Chemoradiation With Volumetric Modulated Arc Therapy and Simultaneous Integrated Boost in Glioblastoma: A Phase I Study (ISIDE-BT-2)

Author

Ferro, Martina, Macchia, Gabriella, Cilla, Savino, Buwenge, M., Re, A., Romano, Maria Concetta, Boccardi, M., Picardi, V., Cammelli, S., Cucci, E., Mignogna, S., Di Lullo, L., Valentini, Vincenzo, Morganti, Alessio Giuseppe, Deodato, Francesco, Ferro M., Macchia G., Cilla S., Romano C., Valentini V. (ORCID:0000-0003-4637-6487), Morganti A. G., Deodato F. (ORCID:0000-0003-1276-5070), Ferro, Martina, Macchia, Gabriella, Cilla, Savino, Buwenge, M., Re, A., Romano, Maria Concetta, Boccardi, M., Picardi, V., Cammelli, S., Cucci, E., Mignogna, S., Di Lullo, L., Valentini, Vincenzo, Morganti, Alessio Giuseppe, Deodato, Francesco, Ferro M., Macchia G., Cilla S., Romano C., Valentini V. (ORCID:0000-0003-4637-6487), Morganti A. G., and Deodato F. (ORCID:0000-0003-1276-5070)

Abstract

Background: Glioblastoma Multiforme (GBM) is the most common primary brain cancer and one of the most lethal tumors. Theoretically, modern radiotherapy (RT) techniques allow dose-escalation due to the reduced irradiation of healthy tissues. This study aimed to define the adjuvant maximum tolerated dose (MTD) using volumetric modulated arc RT with simultaneous integrated boost (VMAT-SIB) plus standard dose temozolomide (TMZ) in GBM. Methods: A Phase I clinical trial was performed in operated GBM patients using VMAT-SIB technique with progressively increased total dose. RT was delivered in 25 fractions (5 weeks) to two planning target volumes (PTVs) defined by adding a 5-mm margin to the clinical target volumes (CTVs). The CTV1 was the tumor bed plus the MRI enhancing residual lesion with 10-mm margin. The CTV2 was the CTV1 plus 20-mm margin. Only PTV1 dose was escalated (planned dose levels: 72.5, 75, 77.5, 80, 82.5, 85 Gy), while PTV2 dose remained unchanged (45 Gy/1.8 Gy). Concurrent and sequential TMZ was prescribed according to the EORTC/NCIC protocol. Dose-limiting toxicities (DLTs) were defined as any G ≥ 3 non-hematological acute toxicity or any G ≥ 4 acute hematological toxicities (RTOG scale) or any G ≥ 2 late toxicities (RTOG-EORTC scale). Results: Thirty-seven patients (M/F: 21/16; median age: 59 years; median follow-up: 12 months) were enrolled and treated as follows: 6 patients (72.5 Gy), 10 patients (75 Gy), 10 patients (77.5 Gy), 9 patients (80 Gy), 2 patients (82.5 Gy), and 0 patients (85 Gy). Eleven patients (29.7%) had G1-2 acute neurological toxicity, while 3 patients (8.1%) showed G ≥ 3 acute neurological toxicities at 77.5 Gy, 80 Gy, and 82.5 Gy levels, respectively. Since two DLTs (G3 neurological: 1 patient and G5 hematological toxicity: 1 patient) were observed at 82.5 Gy level, the trial was closed and the 80 Gy dose-level was defined as the MTD. Two asymptomatic histologically proven radionecrosis were recorded. Conclusions: According to the

Published
2021

220. Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant

Author

Ciaccio, C., Duga, V., Pantaleoni, C., Esposito, S., Moroni, I., Pinelli, M., Castello, R., Nigro, V., Chiapparini, L., D'Arrigo, S., Torella, A., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Capra, V., Leuzzi, V., Selicorni, A., Maitz, S., Brunetti-Pierri, N., Banfi, S., Zollino, Marcella, Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., Zollino M. (ORCID:0000-0003-4871-9519), Ciaccio, C., Duga, V., Pantaleoni, C., Esposito, S., Moroni, I., Pinelli, M., Castello, R., Nigro, V., Chiapparini, L., D'Arrigo, S., Torella, A., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Capra, V., Leuzzi, V., Selicorni, A., Maitz, S., Brunetti-Pierri, N., Banfi, S., Zollino, Marcella, Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., and Zollino M. (ORCID:0000-0003-4871-9519)

Abstract

Biallelic loss of function of TELO2 gene cause a severe syndromic disease mainly characterized by global developmental delay with poor motor and language acquisitions, microcephaly, short stature, minor facial and limbs anomalies, sleep disorder, spasticity, and balance impairment up to ataxia. TELO2-related syndrome, also known as You-Hoover-Fong Syndrome, is extremely rare and since its first description in 2016 only 8 individuals have been reported, all showing a severe disability. The causative gene is member of the big molecular family of genes responsible for cells proliferation and DNA stability. We describe the case of two sisters, carrying the homozygous p. Arg609His variant of the gene, who present a milder phenotype of TELO2-related syndrome. Such variant has been reported once in a more severely affected patient, in compound heterozygous state associated with the p. Pro260Leu variant, suggesting a possible role of the p. Arg609His variant in determining milder phenotypes. Comparing the siblings with all previously reported cases, we offer an overview on the condition and discuss TELO2 genetic interactions, in order to further explore the molecular bases of this recently described disorder.

Published
2021

221. Regional disparity in the axial skeleton of Saurichthyidae and implications for axial regionalization in non‐teleostean actinopterygians

Author

Maxwell, E E; https://orcid.org/0000-0002-6032-6251, Romano, C, Wu, F‐X, Maxwell, E E; https://orcid.org/0000-0002-6032-6251, Romano, C, and Wu, F‐X

Abstract

The postcranial axial skeleton of actinopterygian fishes is typically divided into three regions: (1) an anterior abdominal region, (2) a posterior caudal region and (3) those vertebrae supporting the caudal fin. However, in some actinopterygians, the axial skeleton is more finely subdivided, with up to six morphologically distinctsub-regions recognized. Phylogenetic continuity and homology of structures across these sub-regions have not been investigated in detail, either between or among groups. We examine variation in axial regionalization in saurichthyid fishes, a clade of extinct non-teleostean actinopterygians with highly variable axial skeletal morphology but an otherwise conservative body plan, and compare these findings to other non-teleostean actinopterygians to assess conservation of a regionalized axial skeleton within bony fishes. We document up to eight distinct regions in the vertebral column of Triassic Saurichthys: (1) a postoccipital region, (2) an anterior and (3) a posterior abdominal region, (4) a transitional region spanning the abdominal–caudal boundary, (5) an anterior and (6) a posterior caudal region and (7) preural and (8) ural regions. Based on taphonomical and morphological evidence, the transitional region appears to function in axial stiffening in the area of the median fins, whereas the abdominal region is highly flexible. The degree to which these axial regions are osteologically differentiated is highly variable across Saurichthyidae, implying iterative evolution of differentiation and de-differentiation over relatively short geological timescales. Such variably expressed regionalization was also identified in the outgroup non-teleostean actinopterygians Birgeria and Australosomus. Despite variation in morphological disparity, the regions identified in saurichthyids correlate well with those documented in some teleosts and Paleozoic actinopterygians, suggesting potential deep patterning homology but independent evolution of specific

Published
2021

232. Significance of Hypouricemia

Author

Sforza, G. Riario, Di Cosmo, C., Mele, A. L. Di, Morelli, E., Romano, C., Quaratino, C. P., Giacomello, A., Harkness, R. Angus, editor, Elion, Gertrude B., editor, and Zöllner, Nepomuk, editor

Published
1991
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233. Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)

Author

Ciaccio C., Castello R., Esposito S., Pinelli M., Nigro V., Casari G., Chiapparini L., Pantaleoni C., Torella A., Cappuccio G., Musacchia F., Mutarelli M., Carrella D., Vitiello G., Parenti G., Capra V., Leuzzi V., Selicorni A., Maitz S., Brunetti-Pierri N., Banfi S., Zollino M., Montomoli M., Milani D., Romano C., Tummolo A., De Brasi D., Coppola A., Santoro C., D'Arrigo S., Ciaccio, C., Castello, R., Esposito, S., Pinelli, M., Nigro, V., Casari, G., Chiapparini, L., Pantaleoni, C., Torella, A., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Capra, V., Leuzzi, V., Selicorni, A., Maitz, S., Brunetti-Pierri, N., Banfi, S., Zollino, M., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., D'Arrigo, S., Ciaccio, Claudia, Castello, Raffaele, Esposito, Silvia, Pinelli, Michele, Nigro, Vincenzo, Casari, Giorgio, Chiapparini, Luisa, Pantaleoni, Chiara, and D'Arrigo, Stefano

Subjects
Drug Resistant Epilepsy, medicine.medical_specialty, Pediatrics, Neurology, Ataxia, Adolescent, SCAR23, Disease, Whole Exome Sequencing, 050105 experimental psychology, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Intellectual Disability, Exome Sequencing, Intellectual disability, Humans, Spinocerebellar Ataxias, Medicine, 0501 psychology and cognitive sciences, TDP2, Phosphoric Diester Hydrolases, business.industry, 05 social sciences, Pediatric ataxia, medicine.disease, DNA-Binding Proteins, Mutation, Cerebellar atrophy, Spinocerebellar ataxia, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

Spinocerebellar Ataxia 23 (SCAR23) is a newly described condition caused by mutations in TDP2 gene. To date, only four patients from two families have been reported, all carrying the same homozygous mutation. We describe a fifth patient, carrying a novel mutation in the same gene, thus confirming the role of TDP2 mutations in determining the disease and defining the main features SCAR23: pediatric onset ataxia and drug-resistant epilepsy and intellectual disability. We further show the clinical presentation which is associated with the neuroradiological evidence of progressive cerebellar atrophy, giving the evidence that SCAR23 can be classified as a degenerative condition.

Published
2019

234. Diagnostic approach to monogenic inflammatory bowel disease in clinical practice: a 10-year multi-centric experience

Author

Lega, S, Pin, A, Arrigo, S, Cifaldi, C, Girardelli, M, Bianco, A, Malamisura, M, Angelino, G, Faraci, S, Romeo, E F, Papadatou, B, Miano, M, Aloi, M, Magazzù, G, Romano, C, Calvo, P, Barabino, A, Martelossi, S, Tommasini, A, Di Matteo, G, Cancrini, C, De Angelis, P, Finocchi, A, Bramuzzo, M, Lega, S, Pin, A, Arrigo, S, Cifaldi, C, Girardelli, M, Bianco, A, Malamisura, M, Angelino, G, Faraci, S, Romeo, E F, Papadatou, B, Miano, M, Aloi, M, Magazzù, G, Romano, C, Calvo, P, Barabino, A, Martelossi, S, Tommasini, A, Di Matteo, G, Cancrini, C, De Angelis, P, Finocchi, A, and Bramuzzo, M

Subjects
next generation sequencing, monogenic IBD, very early onset IBD
Abstract

Background and aims Multiple monogenic disorders present as very early onset inflammatory bowel disease (VEO-IBD) or as IBD with severe and atypical features. Establishing a genetic diagnosis may change patients’ management and prognosis. In this study, we describe the diagnostic approach to suspected monogenic IBD in a real clinical setting, discussing genetic and phenotypic findings and therapeutic implications of molecular diagnosis. Methods Information of patients with VEO-IBD and early onset IBD with severe/atypical phenotypes (EO-IBD s/a) managed between 2008–2017 who underwent a genetic workup were collected. Results Ninety-three patients were included, and 12 (13%) reached a genetic diagnosis. Candidate sequencing (CS) was performed in 47 patients (50%), and next generation sequencing (NGS) was performed in 84 patients (90%). Candidate sequencing had a good diagnostic performance only when guided by clinical features specific for known monogenic diseases, whereas NGS helped finding new causative genetic variants and would have anticipated one monogenic diagnosis (XIAP) and consequent bone marrow transplant (BMT). Patients with monogenic IBD more frequently were male (92% vs 54%; P = 0.02), had extraintestinal findings (100% vs 34%; P < 0.001), and had disease onset ≤1 month of life (25% vs 1%; P = 0.006). Genetic diagnosis impacted patient management in 11 patients (92%), 7 of whom underwent BMT. Conclusion A genetic diagnosis can be established in a significant proportion of suspected monogenic IBD and has an impact on patients’ management. Candidate sequencing may be deployed when clinical findings orientate toward a specific diagnosis. Next generation sequencing should be preferred in patients with nonspecific phenotypes.

Published
2019

237. POPULATION-BASED SERO-EPIDEMIOLOGICAL STUDY PROTOCOL FOR THE IMPACT OF SMOKING ON SARS-COV-2 INFECTION AND COVID-19 OUTCOMES – THE TROINA STUDY

Author

Polosa, R., primary, Tomaselli, V., additional, Ferrara, P., additional, Romeo, A. C., additional, Rust, S., additional, Saitta, D., additional, Caraci, F., additional, Romano, C., additional, Thangaraju, M., additional, Zuccarello, P., additional, Rose, J., additional, Ferrante, M, additional, Belsey, J., additional, Cibella, F., additional, Interlandi, E., additional, and Ferri, R., additional

Published
2021
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238. OP16 Characterization of the Clinical Features and Outcomes of Paediatric Patients with Isolated Colonic Crohn’s Disease: A Multi-center Study from the Porto Group of ESPGHAN

Author

Berger, T, primary, Miin Lee, H, additional, Ramasamy Padmanaban, L, additional, Wine, E, additional, Yerushalmi, A, additional, Hojsak, I, additional, Bronski, J, additional, Serban, D, additional, Yogev, D, additional, Ledder, O, additional, Lionetti, P, additional, Scarrallo, L, additional, Gasparetto, M, additional, Croft, N, additional, Miele, E, additional, Staiano, A, additional, Meredith, J, additional, Aloi, M, additional, Alvisi, P, additional, Urlep, D, additional, Weiss, B, additional, Knudsen, M, additional, Matar, M, additional, Manuel Navas-López, V, additional, Romano, C, additional, Dipasquale, V, additional, Norsa, L, additional, Kolho, K L, additional, Shamir, R, additional, and Shouval, D, additional

Published
2021
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239. P436 SPOSAB ABP 501 - A Sicilian Prospective Observational Study of Patients with Inflammatory Bowel Disease Treated with Adalimumab Biosimilar ABP 501

Author

Macaluso, F, primary, Cappello, M, additional, Busacca, A, additional, Fries, W, additional, Viola, A, additional, Costantino, G, additional, Magnano, A, additional, Vinci, E, additional, Ferracane, C, additional, Privitera, A C, additional, Piccillo, G, additional, Belluardo, N, additional, Giangreco, E, additional, Romano, C, additional, Citrano, M, additional, Graziano, F, additional, Garufi, S, additional, Bertolami, C, additional, Scrivo, B, additional, Renna, S, additional, Casà, A, additional, Rizzuto, G, additional, Ventimiglia, M, additional, and Orlando, A, additional

Published
2021
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245. Adjuvant anastrozole versus exemestane versus letrozole, upfront or after 2 years of tamoxifen, in endocrine-sensitive breast cancer (FATA-GIM3): a randomised, phase 3 trial

Author

De Placido, S, Gallo, C, De Laurentiis, M, Bisagni, G, Arpino, G, Sarobba, M, Riccardi, F, Russo, A, Del Mastro, L, Cogoni, A, Cognetti, F, Gori, S, Foglietta, J, Frassoldati, A, Amoroso, D, Laudadio, L, Moscetti, L, Montemurro, F, Verusio, C, Bernardo, A, Lorusso, V, Gravina, A, Moretti, G, Lauria, R, Lai, A, Mocerino, C, Rizzo, S, Nuzzo, F, Carlini, P, Perrone, F, Accurso, A, Agostara, B, Aieta, M, Alabiso, O, Alicicco, M, Amadori, D, Amaducci, L, Amiconi, G, Antuzzi, G, Ardine, M, Ardizzoia, A, Aversa, C, Badalamenti, G, Barni, S, Basurto, C, Berardi, R, Bergamasco, C, Bidoli, P, Bighin, C, Biondi, E, Boni, C, Borgonovo, K, Botta, M, Bravi, S, Bruzzi, P, Buono, G, Butera, A, Caldara, A, Candeloro, G, Cappelletti, C, Cardalesi, C, Carfora, E, Cariello, A, Carrozza, F, Carteni, G, Caruso, M, Casadei, V, Casanova, C, Castori, L, Cavanna, L, Cavazzini, G, Cazzaniga, M, Chilelli, M, Chiodini, P, Chiorrini, S, Ciardiello, F, Ciccarese, M, Cinieri, S, Clerico, M, Coccaro, M, Comande, M, Corbo, C, Cortino, G, Cusenza, S, Daniele, G, D'Arco, A, D'Auria, G, Dazzi, C, De Angelis, C, de Braud, F, De Feo, G, De Matteis, A, De Tursi, M, Di Blasio, A, di Lucca, G, Di Lullo, L, Di Rella, F, Di Renzo, G, Di Stefano, P, Di Stefano, A, Diana, A, Donati, S, Fabbri, A, Fabi, A, Faedi, M, Farina, G, Farris, A, Febbraro, A, Fedele, P, Federico, P, Ferrau, F, Ferretti, G, Ferro, A, Floriani, I, Forcignano, R, Forciniti, S, Forestieri, V, Fornari, G, Frisinghelli, M, Fusco, V, Gallizzi, G, Galvano, A, Gambardella, A, Gambi, A, Gebbia, V, Gervasi, E, Ghilardi, M, Giacobino, A, Giardina, G, Giotta, F, Giraudi, S, Giuliano, M, Grassadonia, A, Grasso, D, Grosso, F, Guizzaro, L, Incoronato, P, Incorvaia, L, Iodice, G, La Verde, N, Labonia, V, Landi, G, Latorre, A, Leonardi, V, Levaggi, A, Limite, G, Lina Bascialla, L, Livi, L, Maiello, E, Mandelli, D, Marcon, I, Menon, D, Montedoro, M, Moraca, L, Moretti, A, Morritti, M, Morselli, P, Mura, A, Mura, S, Musacchio, M, Muzio, A, Natale, D, Natoli, C, Nigro, C, Nistico, C, Nuzzo, A, Orditura, M, Orlando, L, Pacilio, C, Palumbo, G, Palumbo, R, Pasini, F, Paterno, E, Pazzola, A, Pelliccioni, S, Pensabene, M, Perroni, D, Pesenti Gritti, A, Petrelli, F, Piccirillo, M, Pinotti, G, Pogliani, C, Poli, D, Prader, S, Recchia, F, Rizzi, D, Romano, C, Rossello, R, Rossini, C, Salvucci, G, Sanna, V, Santini, A, Saracchini, S, Savastano, C, Scambia, G, Schettini, F, Schiavone, P, Schirone, A, Seles, E, Signoriello, S, Signoriello, G, Silva, R, Silvestri, A, Simeon, V, Spagnoletti, I, Tamberi, S, Teragni, C, Thalmann, V, Thomas, R, Thomas, G, Tienghi, A, Tinari, N, Tinessa, V, Tomei, F, Tonini, G, Torri, V, Traficante, D, Tudini, M, Turazza, M, Vignoli, R, Vitale, M, Zacchia, A, Zagarese, P, Zanni, A, Zavallone, L, Zavettieri, M, Zoboli, A, De Placido S., Gallo C., De Laurentiis M., Bisagni G., Arpino G., Sarobba M. G., Riccardi F., Russo A., Del Mastro L., Cogoni A. A., Cognetti F., Gori S., Foglietta J., Frassoldati A., Amoroso D., Laudadio L., Moscetti L., Montemurro F., Verusio C., Bernardo A., Lorusso V., Gravina A., Moretti G., Lauria R., Lai A., Mocerino C., Rizzo S., Nuzzo F., Carlini P., Perrone F., Accurso A., Agostara B., Aieta M., Alabiso O., Alicicco M. G., Amadori D., Amaducci L., Amiconi G., Antuzzi G., Ardine M., Ardizzoia A., Aversa C., Badalamenti G., Barni S., Basurto C., Berardi R., Bergamasco C., Bidoli P., Bighin C., Biondi E., Boni C., Borgonovo K., Botta M., Bravi S., Bruzzi P., Buono G., Butera A., Caldara A., Candeloro G., Cappelletti C., Cardalesi C., Carfora E., Cariello A., Carrozza F., Carteni G., Caruso M., Casadei V., Casanova C., Castori L., Cavanna L., Cavazzini G., Cazzaniga M., Chilelli M., Chiodini P., Chiorrini S., Ciardiello F., Ciccarese M., Cinieri S., Clerico M., Coccaro M., Comande M., Corbo C., Cortino G., Cusenza S., Daniele G., D'arco A. M., D'auria G., Dazzi C., De Angelis C., de Braud F., De Feo G., De Matteis A., De Tursi M., Di Blasio A., di Lucca G., Di Lullo L., Di Rella F., Di Renzo G., Di Stefano P., Di Stefano A., Diana A., Donati S., Fabbri A., Fabi A., Faedi M., Farina G., Farris A., Febbraro A., Fedele P., Federico P., Ferrau F., Ferretti G., Ferro A., Floriani I., Forcignano R., Forciniti S., Forestieri V., Fornari G., Frisinghelli M., Fusco V., Gallizzi G., Galvano A., Gambardella A., Gambi A., Gebbia V., Gervasi E., Ghilardi M., Giacobino A., Giardina G., Giotta F., Giraudi S., Giuliano M., Grassadonia A., Grasso D., Grosso F., Guizzaro L., Incoronato P., Incorvaia L., Iodice G., La Verde N., Labonia V., Landi G., Latorre A., Leonardi V., Levaggi A., Limite G., Lina Bascialla L., Livi L., Maiello E., Mandelli D., Marcon I., Menon D., Montedoro M., Moraca L., Moretti A., Morritti M. G., Morselli P., Mura A., Mura S., Musacchio M., Muzio A., Natale D., Natoli C., Nigro C., Nistico C., Nuzzo A., Orditura M., Orlando L., Pacilio C., Palumbo G., Palumbo R., Pasini F., Paterno E., Pazzola A., Pelliccioni S., Pensabene M., Perroni D., Pesenti Gritti A., Petrelli F., Piccirillo M. C., Pinotti G., Pogliani C., Poli D., Prader S., Recchia F., Rizzi D., Romano C., Rossello R., Rossini C., Salvucci G., Sanna V., Santini A., Saracchini S., Savastano C., Scambia G., Schettini F., Schiavone P., Schirone A., Seles E., Signoriello S., Signoriello G., Silva R. R., Silvestri A., Simeon V., Spagnoletti I., Tamberi S., Teragni C., Thalmann V., Thomas R., Thomas G., Tienghi A., Tinari N., Tinessa V., Tomei F., Tonini G., Torri V., Traficante D., Tudini M., Turazza M., Vignoli R., Vitale M. G., Zacchia A., Zagarese P., Zanni A., Zavallone L., Zavettieri M., Zoboli A., De Placido, S, Gallo, C, De Laurentiis, M, Bisagni, G, Arpino, G, Sarobba, M, Riccardi, F, Russo, A, Del Mastro, L, Cogoni, A, Cognetti, F, Gori, S, Foglietta, J, Frassoldati, A, Amoroso, D, Laudadio, L, Moscetti, L, Montemurro, F, Verusio, C, Bernardo, A, Lorusso, V, Gravina, A, Moretti, G, Lauria, R, Lai, A, Mocerino, C, Rizzo, S, Nuzzo, F, Carlini, P, Perrone, F, Accurso, A, Agostara, B, Aieta, M, Alabiso, O, Alicicco, M, Amadori, D, Amaducci, L, Amiconi, G, Antuzzi, G, Ardine, M, Ardizzoia, A, Aversa, C, Badalamenti, G, Barni, S, Basurto, C, Berardi, R, Bergamasco, C, Bidoli, P, Bighin, C, Biondi, E, Boni, C, Borgonovo, K, Botta, M, Bravi, S, Bruzzi, P, Buono, G, Butera, A, Caldara, A, Candeloro, G, Cappelletti, C, Cardalesi, C, Carfora, E, Cariello, A, Carrozza, F, Carteni, G, Caruso, M, Casadei, V, Casanova, C, Castori, L, Cavanna, L, Cavazzini, G, Cazzaniga, M, Chilelli, M, Chiodini, P, Chiorrini, S, Ciardiello, F, Ciccarese, M, Cinieri, S, Clerico, M, Coccaro, M, Comande, M, Corbo, C, Cortino, G, Cusenza, S, Daniele, G, D'Arco, A, D'Auria, G, Dazzi, C, De Angelis, C, de Braud, F, De Feo, G, De Matteis, A, De Tursi, M, Di Blasio, A, di Lucca, G, Di Lullo, L, Di Rella, F, Di Renzo, G, Di Stefano, P, Di Stefano, A, Diana, A, Donati, S, Fabbri, A, Fabi, A, Faedi, M, Farina, G, Farris, A, Febbraro, A, Fedele, P, Federico, P, Ferrau, F, Ferretti, G, Ferro, A, Floriani, I, Forcignano, R, Forciniti, S, Forestieri, V, Fornari, G, Frisinghelli, M, Fusco, V, Gallizzi, G, Galvano, A, Gambardella, A, Gambi, A, Gebbia, V, Gervasi, E, Ghilardi, M, Giacobino, A, Giardina, G, Giotta, F, Giraudi, S, Giuliano, M, Grassadonia, A, Grasso, D, Grosso, F, Guizzaro, L, Incoronato, P, Incorvaia, L, Iodice, G, La Verde, N, Labonia, V, Landi, G, Latorre, A, Leonardi, V, Levaggi, A, Limite, G, Lina Bascialla, L, Livi, L, Maiello, E, Mandelli, D, Marcon, I, Menon, D, Montedoro, M, Moraca, L, Moretti, A, Morritti, M, Morselli, P, Mura, A, Mura, S, Musacchio, M, Muzio, A, Natale, D, Natoli, C, Nigro, C, Nistico, C, Nuzzo, A, Orditura, M, Orlando, L, Pacilio, C, Palumbo, G, Palumbo, R, Pasini, F, Paterno, E, Pazzola, A, Pelliccioni, S, Pensabene, M, Perroni, D, Pesenti Gritti, A, Petrelli, F, Piccirillo, M, Pinotti, G, Pogliani, C, Poli, D, Prader, S, Recchia, F, Rizzi, D, Romano, C, Rossello, R, Rossini, C, Salvucci, G, Sanna, V, Santini, A, Saracchini, S, Savastano, C, Scambia, G, Schettini, F, Schiavone, P, Schirone, A, Seles, E, Signoriello, S, Signoriello, G, Silva, R, Silvestri, A, Simeon, V, Spagnoletti, I, Tamberi, S, Teragni, C, Thalmann, V, Thomas, R, Thomas, G, Tienghi, A, Tinari, N, Tinessa, V, Tomei, F, Tonini, G, Torri, V, Traficante, D, Tudini, M, Turazza, M, Vignoli, R, Vitale, M, Zacchia, A, Zagarese, P, Zanni, A, Zavallone, L, Zavettieri, M, Zoboli, A, De Placido S., Gallo C., De Laurentiis M., Bisagni G., Arpino G., Sarobba M. G., Riccardi F., Russo A., Del Mastro L., Cogoni A. A., Cognetti F., Gori S., Foglietta J., Frassoldati A., Amoroso D., Laudadio L., Moscetti L., Montemurro F., Verusio C., Bernardo A., Lorusso V., Gravina A., Moretti G., Lauria R., Lai A., Mocerino C., Rizzo S., Nuzzo F., Carlini P., Perrone F., Accurso A., Agostara B., Aieta M., Alabiso O., Alicicco M. G., Amadori D., Amaducci L., Amiconi G., Antuzzi G., Ardine M., Ardizzoia A., Aversa C., Badalamenti G., Barni S., Basurto C., Berardi R., Bergamasco C., Bidoli P., Bighin C., Biondi E., Boni C., Borgonovo K., Botta M., Bravi S., Bruzzi P., Buono G., Butera A., Caldara A., Candeloro G., Cappelletti C., Cardalesi C., Carfora E., Cariello A., Carrozza F., Carteni G., Caruso M., Casadei V., Casanova C., Castori L., Cavanna L., Cavazzini G., Cazzaniga M., Chilelli M., Chiodini P., Chiorrini S., Ciardiello F., Ciccarese M., Cinieri S., Clerico M., Coccaro M., Comande M., Corbo C., Cortino G., Cusenza S., Daniele G., D'arco A. M., D'auria G., Dazzi C., De Angelis C., de Braud F., De Feo G., De Matteis A., De Tursi M., Di Blasio A., di Lucca G., Di Lullo L., Di Rella F., Di Renzo G., Di Stefano P., Di Stefano A., Diana A., Donati S., Fabbri A., Fabi A., Faedi M., Farina G., Farris A., Febbraro A., Fedele P., Federico P., Ferrau F., Ferretti G., Ferro A., Floriani I., Forcignano R., Forciniti S., Forestieri V., Fornari G., Frisinghelli M., Fusco V., Gallizzi G., Galvano A., Gambardella A., Gambi A., Gebbia V., Gervasi E., Ghilardi M., Giacobino A., Giardina G., Giotta F., Giraudi S., Giuliano M., Grassadonia A., Grasso D., Grosso F., Guizzaro L., Incoronato P., Incorvaia L., Iodice G., La Verde N., Labonia V., Landi G., Latorre A., Leonardi V., Levaggi A., Limite G., Lina Bascialla L., Livi L., Maiello E., Mandelli D., Marcon I., Menon D., Montedoro M., Moraca L., Moretti A., Morritti M. G., Morselli P., Mura A., Mura S., Musacchio M., Muzio A., Natale D., Natoli C., Nigro C., Nistico C., Nuzzo A., Orditura M., Orlando L., Pacilio C., Palumbo G., Palumbo R., Pasini F., Paterno E., Pazzola A., Pelliccioni S., Pensabene M., Perroni D., Pesenti Gritti A., Petrelli F., Piccirillo M. C., Pinotti G., Pogliani C., Poli D., Prader S., Recchia F., Rizzi D., Romano C., Rossello R., Rossini C., Salvucci G., Sanna V., Santini A., Saracchini S., Savastano C., Scambia G., Schettini F., Schiavone P., Schirone A., Seles E., Signoriello S., Signoriello G., Silva R. R., Silvestri A., Simeon V., Spagnoletti I., Tamberi S., Teragni C., Thalmann V., Thomas R., Thomas G., Tienghi A., Tinari N., Tinessa V., Tomei F., Tonini G., Torri V., Traficante D., Tudini M., Turazza M., Vignoli R., Vitale M. G., Zacchia A., Zagarese P., Zanni A., Zavallone L., Zavettieri M., and Zoboli A.

Abstract

Background: Uncertainty exists about the optimal schedule of adjuvant treatment of breast cancer with aromatase inhibitors and, to our knowledge, no trial has directly compared the three aromatase inhibitors anastrozole, exemestane, and letrozole. We investigated the schedule and type of aromatase inhibitors to be used as adjuvant treatment for hormone receptor-positive early breast cancer. Methods: FATA-GIM3 is a multicentre, open-label, randomised, phase 3 trial of six different treatments in postmenopausal women with hormone receptor-positive early breast cancer. Eligible patients had histologically confirmed invasive hormone receptor-positive breast cancer that had been completely removed by surgery, any pathological tumour size, and axillary nodal status. Key exclusion criteria were hormone replacement therapy, recurrent or metastatic disease, previous treatment with tamoxifen, and another malignancy in the previous 10 years. Patients were randomly assigned in an equal ratio to one of six treatment groups: oral anastrozole (1 mg per day), exemestane (25 mg per day), or letrozole (2·5 mg per day) tablets upfront for 5 years (upfront strategy) or oral tamoxifen (20 mg per day) for 2 years followed by oral administration of one of the three aromatase inhibitors for 3 years (switch strategy). Randomisation was done by a computerised minimisation procedure stratified for oestrogen receptor, progesterone receptor, and HER2 status; previous chemotherapy; and pathological nodal status. Neither the patients nor the physicians were masked to treatment allocation. The primary endpoint was disease-free survival. The minimum cutoff to declare superiority of the upfront strategy over the switch strategy was assumed to be a 2% difference in disease-free survival at 5 years. Primary efficacy analyses were done by intention to treat; safety analyses included all patients for whom at least one safety case report form had been completed. Follow-up is ongoing. This trial is regist

Published
2018

247. High-temperature deformation of volcanic materials in the presence of water

Author

Robert, G., Russell, J.K., Giordano, D., and Romano, C.

Subjects
Volcanic ash, tuff, etc. -- Chemical properties, Volcanic ash, tuff, etc. -- Thermal properties, Volcanic ash, tuff, etc. -- Structure, Deformations (Mechanics) -- Causes of, Porosity -- Influence, Earth sciences
Abstract

We describe an experimental apparatus used to perform deformation experiments relevant to the volcanological sciences. The apparatus supports low-load, high-temperature deformation experiments under dry and wet conditions on natural and synthetic samples. The e xperiments recover the transient theology of complex (melt [+ or -] porosity [+ or -] solids) volcanic materials during uniaxial deformation. The key component to this apparatus is a steel cell designed for high-temperature deformation experiments under controlled water pressure. Experiments are run under constant displacement rates or constant loads; the range of accessible experimental conditions include: 25-1100 [degrees]C, load stresses 0 to 150 MPa, strain rates [10.sup.-6] to [10.sup.-2] l/s, and fluid pressures 0-150 MPa. The apparatus is calibrated against standard values of viscosity using constant-load experiments on cores of NIST (NBS) 717a borosilicate glass. We also report results of constant-displacement rate (~[10.sup.-6] m/s) experiments on porous (~70%) sintered cores of ash from the Rattlesnake Tuff. The cores of volcanic ash were deformed in experiments under ambient ('dry') and elevated water pressures ('wet'). Dry experiments at ~870 [degrees]C show an increase in effective viscosity ([10.sup.9.5] to [10.sup.10.4] Pa*s) with increasing strain (~30%) due to porosity reduction during compaction. Experiments under ~1-3 MPa [MATHEMATICAL EXPRESSIONS NOT REPRODUCIBLE IN ASCII.] recover lower values of apparent viscosity ([10.sup.9.2] to [10.sup.9.4] Pa*s) despite being run at lower temperatures (640-665 [degrees]C). The wet experiments also do not show a rise in viscosity with increased strain (decreasing porosity) as observed in dry experiments. Rather, the presence of an [H.sub.2]O fluid phase expands the window of viscous deformation and delays the onset of strain hardening that normally accompanies porosity reduction. Keywords: Experimental-apparatus, deformation, volcanic, theology, high-temperature, hydrous, porosity

Published
2008

248. Comment on:Targeting the HGF/c-MET pathway in advanced pancreatic cancer: a key element of treatment that limits primary tumour growth and eliminates metastasis

Author

Zhihong Xu, Tony C. Y. Pang, Adele C. Liu, Srinivasa P. Pothula, Alpha Raj Mekapogu, Chamini J. Perera, Takashi Murakami, David Goldstein, Romano C. Pirola, Jeremy S. Wilson, Minoti V. Apte, CCA - Cancer biology and immunology, Radiation Oncology, Medical oncology laboratory, and Amsterdam Gastroenterology Endocrinology Metabolism

Subjects
Cancer Research, Carcinogenesis, Deoxycytidine, Metastasis, chemistry.chemical_compound, Mice, 0302 clinical medicine, Doublecortin-Like Kinases, Neoplasm Metastasis, Cancer, 0303 health sciences, Hepatocyte Growth Factor, Drug discovery, Pancreatic Stellate Cells, Intracellular Signaling Peptides and Proteins, Proto-Oncogene Proteins c-met, Oncology, 030220 oncology & carcinogenesis, Neoplastic Stem Cells, Hepatocyte growth factor, medicine.drug, Signal Transduction, Cancer microenvironment, C-Met, Stromal cell, Protein Serine-Threonine Kinases, Article, 03 medical and health sciences, Targeted therapies, Pancreatic cancer, Cell Line, Tumor, Correspondence, medicine, Bioluminescence imaging, Animals, Humans, Cancer models, Pancreas, 030304 developmental biology, Cell Proliferation, Neoplasm Staging, business.industry, Translational research, medicine.disease, Xenograft Model Antitumor Assays, Gemcitabine, Pancreatic Neoplasms, chemistry, Immunoglobulin G, Cancer cell, Cancer research, business
Abstract

Background Stromal–tumour interactions facilitate pancreatic cancer (PC) progression. The hepatocyte growth factor (HGF)/c-MET pathway is upregulated in PC and mediates the interaction between cancer cells and stromal pancreatic stellate cells (PSCs). This study assessed the effect of HGF/c-MET inhibition plus gemcitabine (G) on the progression of advanced PC. Methods Orthotopic PC was produced by implantation of luciferase-tagged human cancer cells + human PSCs into mouse pancreas. Tumours were allowed to develop without treatment for 4 weeks. Mice were then treated for 6 weeks with one of the following: IgG, G, HGF inhibitor (Hi), c-MET inhibitor (Ci), Hi + Ci, Hi + G, Ci + G, or Hi + Ci + G. Results Bioluminescence imaging showed similar tumour sizes in all mice at the initiation of treatments. Triple therapy (Hi + Ci + G): (1) completely eliminated metastasis; (2) significantly reduced tumour size as assessed by bioluminescence and at necropsy; (3) significantly reduced proliferating cancer cell density and stem cell marker DCLK1 expression in tumours. In vitro 3D culture studies supported our in vivo findings. Conclusion Even at an advanced disease stage, a two-pronged approach, targeting (a) HGF/c-MET with relevant inhibitors and (b) cancer cells with chemotherapy, completely eliminated metastasis and significantly decreased tumour growth, suggesting that this is a promising treatment approach for PC.

Published
2020

249. An Orthotopic Resectional Mouse Model of Pancreatic Cancer

Author

Therese M. Becker, Tony C. Y. Pang, Jeremy S. Wilson, David Goldstein, Minoti V. Apte, Romano C. Pirola, Srinivasa Pothula, Zhihong Xu, and Alpha Raj Mekapogu

Subjects
0301 basic medicine, medicine.medical_specialty, medicine.medical_treatment, General Chemical Engineering, Splenectomy, Urology, Mice, Nude, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Pancreatectomy, Pancreatic tumor, Pancreatic cancer, medicine, Adjuvant therapy, Animals, Neoadjuvant therapy, Mice, Inbred BALB C, General Immunology and Microbiology, business.industry, General Neuroscience, Cancer, medicine.disease, Pancreatic Neoplasms, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Female, business, Pancreas, Neoplasm Transplantation, Spleen
Abstract

There is a lack of satisfactory animal models to study adjuvant and/or neoadjuvant therapy in patients being considered for surgery of pancreatic cancer (PC). To address this deficiency, we describe a mouse model involving orthotopic implantation of PC followed by distal pancreatectomy and splenectomy. The model has been demonstrated to be safe and suitably flexible for the study of various therapeutic approaches in adjuvant and neo adjuvant settings. In this model, a pancreatic tumor is first generated by implanting a mixture of human pancreatic cancer cells (luciferase-tagged AsPC-1) and human cancer associated pancreatic stellate cells into the distal pancreas of Balb/c athymic nude mice. After three weeks, the cancer is resected by re-laparotomy, distal pancreatectomy and splenectomy. In this model, bioluminescence imaging can be used to follow the progress of cancer development and effects of resection/treatments. Following resection, adjuvant therapy can be given. Alternatively, neoadjuvant treatment can be given prior to resection. Representative data from 45 mice are presented. All mice underwent successful distal pancreatectomy/splenectomy with no issues of hemostasis. A macroscopic proximal pancreatic margin greater than 5 mm was achieved in 43 (96%) mice. The technical success rate of pancreatic resection was 100%, with 0% early mortality and morbidity. None of the animals died during the week after resection. In summary, we describe a robust and reproducible technique for a surgical resection model of pancreatic cancer in mice which mimics the clinical scenario. The model may be useful for the testing of both adjuvant and neoadjuvant treatments.

Published
2020

250. How did the COVID-19 pandemic change the practice of Paediatric Endoscopists in Europe?

Author

Dias Ja, Angelis Pd, Oliva S, Vila-Miravet, Légeret C, Romano C, Furlano R, Narula P, Dall'Oglio L, Homan M, Norsa L, Bontems P, Thomson M, Hauser B, Papadopoulou A, and Athiana I

Subjects
History, Coronavirus disease 2019 (COVID-19), Pandemic, medicine, Medical emergency, medicine.disease
Abstract

Background: As endoscopists are at risk to get infected by the novel Coronavirus SARS-CoV-2 during endoscopic procedures, the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) published recommendations regarding protection for the paediatric endoscopist and endoscopy suite staff. The aim of this survey was to investigate whether European paediatric gastroenterology centres applied the recommendations and how this extraordinary situation was handled by the different centres.Results: Twelve Paediatric European gastroenterology centers (from Belgium, Greece, Italy, Portugal, Slovenia, Spain, Switzerland, and United Kingdom) participated. Nine centres (75%) screened their patients for a possible COVID-19 infection before the procedure, the same amount of hospitals changed their practice based on the ESPGHAN recommendations. 67% of the centres reduced the staff in the endoscopy suite, 83% of the units used FFP2/3 masks and protective goggles during the procedure and 75% wore waterproof gowns.Conclusion: The global situation caused by COVID-19 changed so rapidly, and hospitals had to react immediately to protect staff and patients and could not wait for guidelines to be published. Furthermore, uniform guidelines could not be applied by all European hospitals at a certain time point of the viral spread, as different regions of Europe were not only affected differently by COVID-19, but also had different access to personal protective equipment.

Published
2020

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