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1. Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients

Author

Strafella, Claudia, Megalizzi, Domenica, Trastulli, Giulia, Proietti Piorgo, Emma, Colantoni, Luca, Tasca, Giorgio, Monforte, Mauro, Zampatti, Stefania, Primiano, Guido, Sancricca, Cristina, Bortolani, Sara, Torchia, Eleonora, Ravera, Beatrice, Torri, Francesca, Gadaleta, Giulio, Risi, Barbara, Caria, Filomena, Gerardi, Francesca, Carraro, Elena, Gioiosa, Valeria, Garibaldi, Matteo, Tufano, Laura, Frezza, Erica, Massa, Roberto, Caltagirone, Carlo, Pennisi, Elena Maria, Petrucci, Antonio, Pane, Marika, Frongia, Annalia, Gragnani, Francesca, Scutifero, Marianna, Mandich, Paola, Grandis, Marina, Maioli, Maria Antonietta, Casali, Carlo, Manfroi, Elisabetta, Politano, Luisa, Passamano, Luigia, Petillo, Roberta, Rodolico, Carmelo, Pugliese, Alessia, Previtali, Stefano Carlo, Sansone, Valeria, Vercelli, Liliana, Mongini, Tiziana Enrica, Ricci, Giulia, Siciliano, Gabriele, Filosto, Massimiliano, Ricci, Enzo, Cascella, Raffaella, and Giardina, Emiliano

Published
2024
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3. Case report: A single novel calpain 3 gene variant associated with mild myopathy

Author

Sara Massucco, Paola Fossa, Chiara Fiorillo, Elena Faedo, Chiara Gemelli, Rita Barresi, Michela Ripolone, Serena Patrone, Andrea Gaudio, Paola Mandich, Fabio Gotta, Serena Baratto, Monica Traverso, Livia Pisciotta, Federico Zaottini, Mattia Camera, Elena Scarsi, and Marina Grandis

Subjects
calpain, calpainopathy, LGMD, LGMDR1, case report, Genetics, QH426-470
Abstract

Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described. A man was referred to our neurological outpatient clinic at the age of 54 for persistent hyperCKemia (>1000 U/l) associated with muscle fatigue and myalgia. Clinical examination revealed mild proximal weakness in the lower limbs. His brother exhibited a moderate increase in serum creatine kinase levels (up to 2000 U/l) without other signs of myopathy. Their father experienced slowly progressive lower limb weakness after the age of 50. The calpain 3 variant c.1478G>A (p.Arg493Gln) in the heterozygous state was identified in both brothers. In silico modeling studies predict that this substitution may disrupt protein folding. This represents the first description of the heterozygous p.Arg493Gln calpain 3 variant as a potential cause of mild calpainopathy.

Published
2024
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4. A 3.3 Gbps SPAD-Based Quantum Random Number Generator

Author

Keshavarzian, Pouyan, Ramu, Karthick, Tang, Duy, Weill, Carlos, Gramuglia, Francesco, Tan, Shyue Seng, Tng, Michelle, Lim, Louis, Quek, Elgin, Mandich, Denis, Stipčević, Mario, and Charbon, Edoardo

Subjects
Computer Science - Cryptography and Security, Quantum Physics
Abstract

Quantum random number generators are a burgeoning technology used for a variety of applications, including modern security and encryption systems. Typical methods exploit an entropy source combined with an extraction or bit generation circuit in order to produce a random string. In integrated designs there is often little modelling or analytical description of the entropy source, circuit extraction and post-processing provided. In this work, we first discuss theory on the quantum random flip-flop (QRFF), which elucidates the role of circuit imperfections that manifest themselves in bias and correlation. Then, a Verilog-AMS model is developed in order to validate the analytical model in simulation. A novel transistor implementation of the QRFF circuit is presented, which enables compensation of the degradation in entropy inherent to the finite non-symmetric transitions of the random flip-flop. Finally, a full system containing two independent arrays of the QRFF circuit is manufactured and tested in a 55 nm Bipolar-CMOS-DMOS (BCD) technology node, demonstrating bit generation statistics that are commensurate to the developed model. The full chip is able to generate 3.3 Gbps of data when operated with an external LED, whereas an individual QRFF can generate 25 Mbps each of random data while maintaining a Shannon entropy bound > 0.997, which is one of the highest per pixel bit generation rates to date. NIST STS is used to benchmark the generated bit strings, thereby validating the QRFF circuit as an excellent candidate for fully-integrated QRNGs., Comment: 11 pages. 16 Figures

Published
2022

6. Genetics architecture of spontaneous coronary artery dissection in an Italian cohort

Author

Marta Casula, Daniela Marchetti, Lucia Trevisan, Laura Pezzoli, Matteo Bellini, Serena Patrone, Antonio Zingarelli, Fabio Gotta, Maria Iascone, and Paola Mandich

Subjects
whole exome sequencing (WES), DROSHA, connective tissue disorder, miRNA, spontaneous coronary artery dissection (SCAD), Fragile X premutation, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Spontaneous coronary artery dissection (SCAD) is a relevant non-atherosclerotic cause of acute coronary syndrome with a complex genetic architecture. Recent discoveries have highlighted the potential role of miRNAs and protein-coding genes involved in the processing of small RNAs in the pathogenesis of SCAD. Furthermore, there may be a connection between SCAD and the increased cardiovascular risk observed in fragile X premutation carriers as well as a correlation with pathogenetic variants in genes encoding for collagen and extracellular matrix, which are related to connective tissue disorders (CTDs). In our cohort of 15 Italian SCAD patients, a total of 37 rare variants were identified in 34 genes using whole exome sequencing (WES) and TRIO-WES analysis when both parents were available. Three likely pathogenic/pathogenetic variants were found in genes previously associated with SCAD and CTDs (COL3A1, COL1A2, and SMAD3) and 26 variants of uncertain significance in genes previously associated with SCAD and CTDs. TRIO-WES analysis revealed 7 de novo variants, 1 of which was found in a potential novel candidate gene (DROSHA). In addition, a premutation allele of 55 ± 2 CGG repeats in the promoter of the FMR1 gene was identified in two related SCAD patients by test for CGG-repeat expansions in the 5′-UTR of the FMR1 gene. Our findings suggest various potential mechanisms such as mRNA toxicity, miRNA regulation, alteration of collagen, and the extracellular matrix architecture, all of which could disrupt vascular homeostasis, and finally, WES and TRIO-WES have proven to be the most powerful approaches for characterizing the genetic background of SCAD.

Published
2024
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8. Additional numerical and graphical evidence to support some Conjectures on discrete Schr\'odinger operators with a more general long range condition

Author

Golénia, Sylvain and Mandich, Marc-Adrien

Subjects
Mathematics - Functional Analysis, Mathematical Physics, Mathematics - Spectral Theory
Abstract

This document contains additional numerical and graphical evidence to support some of the conjectures mentioned in \cite{GM3}. We give more evidence for $\kappa=3,4$ in dimension 2. As mentioned in that article we still don't quite understand the sets $\boldsymbol{\mu}_{\kappa}(\Delta)$ and $\boldsymbol{\Theta}_{\kappa}(\Delta)$ on $(0,1/2)$ for $\kappa=3$ in dimension 2. Here we give a bunch more threshold energies for $\kappa = 3$ in dimension 2.

Published
2022

9. Thresholds and more bands of a.c. Spectrum for the discrete Schr{\'o}dinger operator with a more general long range condition

Author

Golénia, Sylvain and Mandich, Marc-Adrien

Subjects
Mathematics - Functional Analysis, Mathematical Physics, Mathematics - Spectral Theory
Abstract

We continue the investigation of the existence of absolutely continuous (a.c.) spectrum for the discrete Schr\"odinger operator $\Delta+V$ on $\ell^2(\Z^d)$, in dimensions $d\geq 2$, for potentials $V$ satisfying the long range condition $n_i(V-\tau_i ^{\kappa}V)(n) = O(\ln^{-q}(|n|))$ for some $q>2$, $\kappa \in \N$, and all $1 \leq i \leq d$, as $|n| \to \infty$. $\tau_i ^{\kappa} V$ is the potential shifted by $\kappa$ units on the $i^{\text{th}}$ coordinate. The difference between this article and \cite{GM2} is that here finite linear combinations of conjugate operators are constructed leading to more bands of a.c.\ spectrum being observed. The methodology is backed primarily by graphical evidence because the linear combinations are built by numerically implementing a polynomial interpolation. On the other hand an infinitely countable set of thresholds, whose exact definition is given later, is rigorously identified. Our overall conjecture, at least in dimension 2, is that the spectrum of $\Delta+V$ is void of singular continuous spectrum, and consecutive thresholds are endpoints of a band of a.c. spectrum., Comment: arXiv admin note: substantial text overlap with arXiv:2201.00410

Published
2022

10. Thresholds and more bands of A.C. spectrum for the Molchanov--Vainberg Schr\'odinger operator with a more general long range condition

Author

Mandich, Marc-Adrien

Subjects
Mathematics - Spectral Theory, Mathematical Physics, Mathematics - Functional Analysis
Abstract

The existence of absolutely continuous (a.c.) spectrum for the discrete Molchanov-Vainberg Schr\"odinger operator $D+V$ on $\ell^2(\mathbb{Z}^d)$, in dimensions $d\geq 2$, is further investigated for potentials $V$ satisfying the long range condition $n_i(V-\tau_i ^{\kappa}V)(n) = O(\ln^{-q}(|n|))$ for some $q>2$, $\kappa \in \mathbb{N}$ even, and all $1 \leq i \leq d$, as $|n| \to \infty$. $\tau_i ^{\kappa} V$ is the potential shifted by $\kappa$ units on the $i^{\text{th}}$ coordinate. In this article \textit{finite} linear combinations of conjugate operators are constructed. These lead to more bands of a.c.\ spectrum being found. However, the new bands of a.c. spectrum are justified mainly by graphical evidence because the coefficients of the linear combinations are obtained by numerical polynomial interpolation. At the same time, an infinitely countable set of thresholds is rigorously identified (these will be defined exactly in the article). We conjecture that the spectrum of $D+V$ in dimension 2 is void of singular continuous spectrum, and that consecutive thresholds constitute endpoints of a band of a.c. spectrum.

Published
2022

11. Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data

Author

Baloh, Robert H., Bowser, Robert, Brady, Christopher B., Brice, Alexis, Broach, James, Camu, William, Chia, Ruth, Chio, Adriano, Cooper-Knock, John, Cusi, Daniele, Ding, Jinhui, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Gerhard, Glenn, Gibbs, J. Raphael, Gibson, Summer B., Glass, Jonathan D., Goutman, Stephen A., Hardy, John, Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Laaksovirta, Hannu, Landers, John E., Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, Guissart, Claire, MacGowan, Daniel JL., Maragakis, Nicholas J., Mora, Gabriele, Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pickering-Brown, Stuart, Pioro, Erik P., Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Rogaeva, Ekaterina, Rothstein, Jeffrey D., Salvi, Erika, Scholz, Sonja W., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stone, David J., Tienari, Pentti J., Traynor, Bryan J., Trojanowski, John Q., Troncoso, Juan C., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Angelocola, Stefania M., Ausiello, Francesco P., Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bersano, Enrica, Bisogni, Giulia, Borghero, Giuseppe, Brunetti, Maura, Cabona, Corrado, Calvo, Andrea, Canale, Fabrizio, Canosa, Antonio, Cantisani, Teresa A., Capasso, Margherita, Caponnetto, Claudia, Cardinali, Patrizio, Carrera, Paola, Casale, Federico, Colletti, Tiziana, Conforti, Francesca L., Conte, Amelia, Conti, Elisa, Corbo, Massimo, Cuccu, Stefania, Bella, Eleonora Dalla, D'Errico, Eustachio, DeMarco, Giovanni, Dubbioso, Raffaele, Ferrarese, Carlo, Ferraro, Pilar M., Filippi, Massimo, Fini, Nicola, Floris, Gianluca, Fuda, Giuseppe, Gallone, Salvatore, Gianferrari, Giulia, Giannini, Fabio, Grassano, Maurizio, Greco, Lucia, Iazzolino, Barbara, Introna, Alessandro, La Bella, Vincenzo, Lattante, Serena, Lauria, Giuseppe, Liguori, Rocco, Logroscino, Giancarlo, Logullo, Francesco O., Lunetta, Christian, Mandich, Paola, Mandrioli, Jessica, Manera, Umberto, Manganelli, Fiore, Marangi, Giuseppe, Marinou, Kalliopi, Marrosu, Maria Giovanna, Martinelli, Ilaria, Messina, Sonia, Moglia, Cristina, Monsurrò, Maria Rosaria, Mosca, Lorena, Murru, Maria R., Origone, Paola, Passaniti, Carla, Petrelli, Cristina, Petrucci, Antonio, Pirisi, Angelo, Pozzi, Susanna, Pugliatti, Maura, Quattrini, Angelo, Ricci, Claudia, Riolo, Giulia, Riva, Nilo, Russo, Massimo, Sabatelli, Mario, Salamone, Paolina, Salivetto, Marco, Salvi, Fabrizio, Santarelli, Marialuisa, Sbaiz, Luca, Sideri, Riccardo, Simone, Isabella, Simonini, Cecilia, Spataro, Rossella, Tanel, Raffaella, Tedeschi, Gioacchino, Ticca, Anna, Torriello, Antonella, Tranquilli, Stefania, Tremolizzo, Lucio, Trojsi, Francesca, Vasta, Rosario, Vacchiano, Veria, Vita, Giuseppe, Volanti, Paolo, Zollino, Marcella, Zucchi, Elisabetta, Silani, Vincenzo, Fogh, Isabella, Ticozzi, Nicola, Ratti, Antonia, Tiloca, Cinzia, Peverelli, Silvia, Gellera, Cinzia, Pinter, Giuseppe Lauria, Taroni, Franco, Pensato, Viviana, Castellotti, Barbara, Comi, Giacomo P., Corti, Stefania, Del Bo, Roberto, Cereda, Cristina, Ceroni, Mauro, Gagliardi, Stella, Corrado, Lucia, Mazzini, Letizia, Sorarù, Gianni, Raggi, Flavia, Siciliano, Gabriele, Simoncini, Costanza, Lo Gerfo, Annalisa, Filosto, Massimiliano, Inghilleri, Maurizio, Ferlini, Alessandra, Corcia, Philippe, Couratier, Philippe, Vourc'h, Patrick, Hardiman, Orla, McLaughlin, Russell, Gotkine, Marc, Drory, Vivian, van den Veldink, Jan H., Berg, Leonard H., de Carvalho, Mamede, Mora Pardina, Jesus S., Povedano, Monica, Andersen, Peter, Weber, Markus, Başak, Ayşe Nazlı, Al-Chalabi, Ammar, Shaw, Chris, Morrison, Karen E., Adeleye, Adelani, Alba, Camille, Bacikova, Dagmar, Dalgard, Clifton L., Hupalo, Daniel N., McGrath Martinez, Elisa, Soltis, Anthony R., Sukumar, Gauthaman, Viollet, Coralie, Wilkerson, Matthew D., Saez-Atienzar, Sara, Souza, Cleide dos Santos, Beal, Selina N., Lorenzini, Ileana, Huang, Ruili, Levy, Jennifer, Burciu, Camelia, Jones, Ashley, Dewan, Ramita, van Vugt, Joke J.F.A., van Rheenen, Wouter, Tunca, Ceren, Bayraktar, Elif, Xia, Menghang, Iacoangeli, Alfredo, Shatunov, Aleksey, Verde, Federico, Kenna, Kevin, Al Khleifat, Ahmad, Opie-Martin, Sarah, Piccinelli, Stefano Cotti, Padovani, Alessandro, Galimberti, Daniela, Serpente, Maria, Fenoglio, Chiara, Scarpini, Elio, Curtis, Charles J., Lee, Sang Hyuck, Chung, Raymond, Patel, Hamel, Cooper-Knock, Johnathan, Breen, Gerome, Dobson, Richard J.B., van den Berg, Leonard H., D’Alfonso, Sandra, Chandran, Siddharthan, Pal, Suvankar, Johnson, Kory, Doucet-O’Hare, Tara, Pasternack, Nicholas, Wang, Tongguang, Nath, Avindra, Veldink, Jan H., Chiò, Adriano, Sattler, Rita, Shaw, Christopher E., and Ferraiuolo, Laura

Published
2024
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13. Turning to Character: Teachers' Narratives of Youth Futurity and Educational Responsibility

Author

Mandich, Giuliana

Abstract

In this article, I connect two topics that are relevant to debates in educational studies today: an understanding of how educational discourses and practices convey and produce a definite kind of future, and the debate on what has been defined as the 'turn to character'. I do so by means of interviews with secondary school teachers in Sardinia (Italy), discussing how participants conveyed a discourse characterized by an individualized view of their students' futures (residing mainly within their character) and a narrowly 'institutionalized' view of the responsibility of the school in helping them to shape it. Both discourses allowed teachers to avoid taking on more of a direct, personal, and caring sense of responsibility regarding their students' futures. I argue that, in order to reinforce the role of education in empowering students' capacity to aspire, a stronger anticipatory responsibility must be activated.

Published
2023
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14. ‘It was like walking inside myself’:Youngwomen’s Practices of Domestication in the Gendered City

Author

Valentina Cuzzocrea, Fabio Bertoni, and Giuliana Mandich

Subjects
Sociology (General), HM401-1281
Abstract

The recent Covid-19 pandemic has irrupted into youth’s lives and their relations to the city abruptly. Young people, in particular, make use of public space to forge relationships with peers for them significant: in this sense the city is a key source of identity in their journey towards adulthood. The city can be thought of as a space of their own, in a continuous process of co-construction of “their” city on the one hand, and the expression of “their” desires on the other. Accordingly, young people domesticate the city. Paying attention to the familiarity bonds that emerge against commercialization and commodification of public spaces, in this contribution we draw from a research project which investigated representations of young people in Cagliari, Sardinia. For this contribution we look in-depth at a photovoice conducted in the first half of 2021 with a feminist collective, whose activists were high school final-year students. The agency that these young women explicate in telling the episodes of gender-based micro-violence in the city, at the intersection between patriarchy and adult-centrism, articulates along a playful, but also minded, relationship with public space, one that is attentive, responsive, transformative, and well aware of their positioning. Experimenting with photovoice allows us to disentangle a youthful, but not ingenuous, relationship with the city that reiterates the need for proximity and a feeling of human compassion that social distancing imposed by the pandemic has reproposed in its urgency.

Published
2023

15. Bands of pure a.c. spectrum for lattice Schr{\'o}dinger operators with a more general long range condition. Part I

Author

Golenia, Sylvain and Mandich, Marc Adrien

Subjects
Mathematics - Functional Analysis, Mathematical Physics, Mathematics - Spectral Theory
Abstract

Commutator methods are applied to get limiting absorption principles for the discrete standard and Molchanov-Vainberg Schr\"odinger operators $H_{\mathrm{std}}= \Delta+V$ and $H_{\mathrm{MV}} = D+V$ on $\ell^2(\mathbb{Z}^d)$, with emphasis on $d=1,2,3$. Considered are electric potentials $V$ satisfying a long range condition of the type: $V-\tau_j ^{\kappa}V$ decays appropriately for some $\kappa \in \mathbb{N}$ and all $1 \leq j \leq d$, where $\tau_j ^{\kappa} V$ is the potential shifted by $\kappa$ units on the $j^{\text{th}}$ coordinate. More comprehensive results are obtained for specific small values of $\kappa$, such as $\kappa =1,2,3,4$. In this article, we work in a simplified framework in which the main takeaway appears to be the existence of bands where a limiting absorption principle holds, and hence absolutely continuous (a.c.) spectrum, for $\kappa>1$ and $\Delta$ (resp.\ $\kappa>2$ and $D$). Other decay conditions for $V$ arise from an isomorphism between $\Delta$ and $D$ in dimension 2. Oscillating potentials are natural examples in application.

Published
2021
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17. Diagnosing Fabry nephropathy: the challenge of multiple kidney disease

Author

Pasquale Esposito, Carmela Caputo, Monica Repetto, Alberto Somaschini, Bellone Pietro, Paolo Colomba, Carmela Zizzo, Angelica Parodi, Valentina Zanetti, Marco Canepa, Virginia Eustachi, Francesca Sanguineri, Paola Mandich, and Francesca Viazzi

Subjects
Fabry disease, Fabry nephropathy, Kidney biopsy, Chronic kidney disease, Glomerulonephritis, ADPKD, Diseases of the genitourinary system. Urology, RC870-923
Abstract

Abstract Fabry disease (FD) is an X-linked inherited lysosomal disorder due to a deficiency of the enzyme alpha-galactosidase A (α-gla) due to mutations in the GLA gene. These mutations result in plasma and lysosome accumulation of glycosphingolipids, leading to progressive organ damage and reduced life expectancy. Due to the availability of specific disease-modifying treatments, proper and timely diagnosis and therapy are essential to prevent irreversible complications. However, diagnosis of FD is often delayed because of the wide clinical heterogeneity of the disease and multiple organ involvement developing in variable temporal sequences. This observation is also valid for renal involvement, which may manifest with non-specific signs, such as proteinuria and chronic kidney disease, which are also common in many other nephropathies. Moreover, an additional confounding factor is the possibility of the coexistence of FD with other kidney disorders. Thus, suspecting and diagnosing FD nephropathy in patients with signs of kidney disease may be challenging for the clinical nephrologist. Herein, also through the presentation of a unique case of co-occurrence of autosomal dominant polycystic kidney disease and FD, we review the available literature on cases of coexistence of FD and other renal diseases and discuss the implications of these conditions. Moreover, we highlight the clinical, laboratory, and histological elements that may suggest clinical suspicion and address a proper diagnosis of Fabry nephropathy.

Published
2023
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21. Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation

Author

Emiliano Giardina, Paola Mandich, Roberta Ghidoni, Nicola Ticozzi, Giacomina Rossi, Chiara Fenoglio, Francesco Danilo Tiziano, Federica Esposito, Sabina Capellari, Benedetta Nacmias, Rossana Mineri, Rosa Campopiano, Luana Di Pilla, Federica Sammarone, Stefania Zampatti, Cristina Peconi, Flavio De Angelis, Ilaria Palmieri, Caterina Galandra, Eleonora Nicodemo, Paola Origone, Fabio Gotta, Clarissa Ponti, Roland Nicsanu, Luisa Benussi, Silvia Peverelli, Antonia Ratti, Martina Ricci, Giuseppe Di Fede, Stefania Magri, Maria Serpente, Serena Lattante, Teuta Domi, Paola Carrera, Elisa Saltimbanco, Silvia Bagnoli, Assunta Ingannato, Alberto Albanese, Fabrizio Tagliavini, Raffaele Lodi, Carlo Caltagirone, Stefano Gambardella, Enza Maria Valente, and Vincenzo Silani

Subjects
C9orf72, GGGGCC hexanucleotide repeat, amyotrophic lateral sclerosis, frontotemporal dementia, allele distribution, Neurology. Diseases of the nervous system, RC346-429
Abstract

IntroductionHigh repeat expansion (HRE) alleles in C9orf72 have been linked to both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD); ranges for intermediate allelic expansions have not been defined yet, and clinical interpretation of molecular data lacks a defined genotype–phenotype association. In this study, we provide results from a large multicenter epidemiological study reporting the distribution of C9orf72 repeats in healthy elderly from the Italian population.MethodsA total of 967 samples were collected from neurologically evaluated healthy individuals over 70 years of age in the 13 institutes participating in the RIN (IRCCS Network of Neuroscience and Neurorehabilitation) based in Italy. All samples were genotyped using the AmplideXPCR/CE C9orf72 Kit (Asuragen, Inc.), using standardized protocols that have been validated through blind proficiency testing.ResultsAll samples carried hexanucleotide G4C2 expansion alleles in the normal range. All samples were characterized by alleles with less than 25 repeats. In particular, 93.7% of samples showed a number of repeats ≤10, 99.9% ≤20 repeats, and 100% ≤25 repeats.ConclusionThis study describes the distribution of hexanucleotide G4C2 expansion alleles in an Italian healthy population, providing a definition of alleles associated with the neurological healthy phenotype. Moreover, this study provides an effective model of federation between institutes, highlighting the importance of sharing genomic data and standardizing analysis techniques, promoting translational research. Data derived from the study may improve genetic counseling and future studies on ALS/FTD.

Published
2024
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22. Limiting absorption principle for discrete Schr{\'o}dinger operators with a Wigner-von Neumann potential and a slowly decaying potential

Author

Golenia, Sylvain and Mandich, Marc-Adrien

Subjects
Mathematics - Functional Analysis, Mathematical Physics, Mathematics - Spectral Theory
Abstract

We consider discrete Schr{\"o}dinger operators on ${\mathbb{Z}}^d$ for which the perturbation consists of the sum of a long-range type potential and a Wigner-von Neumann type potential. Still working in a framework of weighted Mourre theory, we improve the limiting absorption principle (LAP) that was obtained in [Ma1]. To our knowledge, this is a new result even in the one-dimensional case. The improvement consists in a weakening of the assumptions on the long-range potential and better LAP weights. The improvement relies only on the fact that the generator of dilations (which serves as conjugate operator) is bounded from above by the position operator. To exploit this, Loewner's theorem on operator monotone functions is invoked.

Published
2020
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25. Clinical characteristics and outcomes of invasively ventilated patients with COVID-19 in Argentina (SATICOVID): a prospective, multicentre cohort study

Author

Estenssoro, E, Dubin, A, Loudet, C I, Ríos, F, Kanoore Edul, V S, Plotnikow, G, Reina, R, Andrian, M, Ivacachi, J, Romero, I, Garay, C, Piezny, D, Sagardía, J, Bezzi, M, Borello, S, Mandich, V, Chiacchiara, D, Groer, C, García Almirón, C, Kovac, A, Torres, S, Cesio, C, Orlandi, C, Hernández, R, Rubatto Birri, P N, Mugno, M, Valenti, M F, Gómez, R A, Cunto, E, Chediack, V, Sáenz, M G, Marchena, C, Tiribelli, N, Guaymas, M, Aphalo, V, Vázquez, D, Saad, Y, Sánchez, D, Iglesias, F, Casteluccio, P, Lattanzio, B, Eiguren, S, Noval, D, Fredes, S, Izzo, G C, Cabrera, H, Pozo, M O, Sac, S, Tornatore, N, Sakugawa, J, Villafañe, C, Di Sibio, A, Maskin, P, Rodríguez, P, Nihany, N, Mogadouro, M, Pálizas (h), F, Cornú, E, Esperatti, M, Pintos, J M, Badariotti, G, Echevarría, G, Mazzola, A M, Giuggia, C, Dargains, N, Turano, A, Pugliese, F, Zec Baskarad, M J, Chamadoira, M, Medina, J C, Búsico, M, Villarejo, F, Collazos, H, Huanca, T, Pendino, J C, Talamonti, L, Skrzypiec, F, Tascón, C, Genovese, G, Alul, H, Zavattieri, A, Herrera, A J, Rosales, N, Quintana, M G, Risso Vazquez, A, Lugaro, M, Díaz Rousseaux, E, Falcone, M, Kurban, F, Cini, M, Zakalik, G, Pellegrini, C, Fernández, G, Sottile, J P, Barrios, S, Hamada, O, Mendiluce, V, Villalba, D, Sacco, F, Mezzina, V, Servin, C, Quinteros, M, Nuñez, H, Campassi, M L, Banegas, D, Balasini, C, Leiva, V, Maicol, F, Domeniconi, G, Vilaseca, V, Barrientos, A, Larocca, F, Kumar, L, Luna, R, Deheza Lonardi, M, Oholeguy, A, Carnero Echegaray, J, Marazzi, C, Helca Regis, P, Rópolo, F, Bobadilla, A, Thomas, V, Funes Nelson, N, Villavicencio, C, Machare, P, Aramayo, N, González, C, Ferriccioni, M, Bergesio, J, Estenssoro, Elisa, Loudet, Cecilia I, Ríos, Fernando G, Kanoore Edul, Vanina S, Plotnikow, Gustavo, Andrian, Macarena, Romero, Ignacio, Piezny, Damián, Bezzi, Marco, Mandich, Verónica, Groer, Carla, Torres, Sebastián, Orlandi, Cristina, Rubatto Birri, Paolo N, Valenti, María F, Cunto, Eleonora, Sáenz, María G, Tiribelli, Norberto, Aphalo, Vanina, Reina, Rosa, and Dubin, Arnaldo

Published
2021
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26. Ventilatory Parameters in Obstetric Patients With COVID-19 and Impact of Delivery: A Multicenter Prospective Cohort Study

Author

Vasquez, Daniela N., Giannoni, Roberto, Salvatierra, Adriana, Cisneros, Karina, Lafosse, Diego, Escobar, María F., Montenegro, Martín, Juárez, Paula, Visani, Lucía, Mandich, Verónica, Barrozo, Erika, Kirschbaum, Mariana, Das Neves, Andrea V., Valenti, María F., Canseco, María C., Romero, Ignacio, Macharé, Pedro, Marquez, Ana K., Rodriguez, Eva, Palacio, Cristina, Rapela, Laura, Amillategui Scenna, José M., Nuñez, Rosshanna, Torres, Sebastián, González, Miguel A., Franconieri, Lorena, Nasner, Daniela, Okurzaty, Patricia, Plotnikow, Gustavo A., and Intile, Alfredo D.

Published
2023
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27. Case report: Episodic ataxia without ataxia?

Author

Andrea Gaudio, Fabio Gotta, Clarissa Ponti, Francesca Sanguineri, Lucia Trevisan, Alessandro Geroldi, Serena Patrone, Chiara Gemelli, Corrado Cabona, Guja Astrea, Chiara Fiorillo, Stefano Gustincich, Marina Grandis, and Paola Mandich

Subjects
hereditary myopathies, UBR4, HSPG2, episodic ataxia, genetic modifiers, genetic testing, Neurology. Diseases of the nervous system, RC346-429
Abstract

Hereditary myopathies represent a clinically and genetically heterogeneous group of neuromuscular disorders, characterized by highly variable clinical presentations and frequently overlapping phenotypes with other neuromuscular disorders, likely influenced by genetic and environmental modifiers. Genetic testing is often challenging due to ambiguous clinical diagnosis. Here, we present the case of a family with clinical and Electromyography (EMG) features resembling a myotonia-like disorder in which Whole Exome Sequencing (WES) analysis revealed the co-segregation of two rare missense variants in UBR4 and HSPG2, genes previously associated with episodic ataxia 8 (EA8). A review of the literature highlighted a striking overlap between the clinical and the molecular features of our family and the previously described episodic ataxias (EAs), which raises concerns about the genotype–phenotype correlation, clinical variability, and the confounding overlap in these groups of disorders. This emphasizes the importance of thoroughly framing the patient's phenotype. The more clear-cut the diagnosis, the easier the identification of a genetic determinant, and the better the prognosis and the treatment of patients.

Published
2023
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29. Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

Author

Tulli, Susanna, Del Bondio, Andrea, Baderna, Valentina, Mazza, Davide, Codazzi, Franca, Pierson, Tyler Mark, Ambrosi, Alessandro, Nolte, Dagmar, Goizet, Cyril, Toro, Camilo, Baets, Jonathan, Deconinck, Tine, DeJonghe, Peter, Mandich, Paola, Casari, Giorgio, and Maltecca, Francesca

Subjects
Biochemistry and Cell Biology, Biological Sciences, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, ATP-Dependent Proteases, ATPases Associated with Diverse Cellular Activities, Animals, Calcium, Fibroblasts, Genetic Variation, HEK293 Cells, Haploinsufficiency, Humans, Metalloendopeptidases, Mice, Mice, Knockout, Mitochondria, Models, Biological, Protein Binding, Protein Domains, Protein Multimerization, Proteolysis, Proteostasis, Stress, Physiological, Transcriptional Activation, genetics, molecular genetics, movement disorders, mitochondria, cell biology, Medical and Health Sciences, Genetics & Heredity, Genetics, Clinical sciences
Abstract

BACKGROUND:Spinocerebellar ataxia type 28 (SCA28) is a dominantly inherited neurodegenerative disease caused by pathogenic variants in AFG3L2. The AFG3L2 protein is a subunit of mitochondrial m-AAA complexes involved in protein quality control. Objective of this study was to determine the molecular mechanisms of SCA28, which has eluded characterisation to date. METHODS:We derived SCA28 patient fibroblasts carrying different pathogenic variants in the AFG3L2 proteolytic domain (missense: the newly identified p.F664S and p.M666T, p.G671R, p.Y689H and a truncating frameshift p.L556fs) and analysed multiple aspects of mitochondrial physiology. As reference of residual m-AAA activity, we included SPAX5 patient fibroblasts with homozygous p.Y616C pathogenic variant, AFG3L2+/- HEK293 T cells by CRISPR/Cas9-genome editing and Afg3l2 -/- murine fibroblasts. RESULTS:We found that SCA28 cells carrying missense changes have normal levels of assembled m-AAA complexes, while the cells with a truncating pathogenic variant had only half of this amount. We disclosed inefficient mitochondrial fusion in SCA28 cells caused by increased OPA1 processing operated by hyperactivated OMA1. Notably, we found altered mitochondrial proteostasis to be the trigger of OMA1 activation in SCA28 cells, with pharmacological attenuation of mitochondrial protein synthesis resulting in stabilised levels of OMA1 and OPA1 long forms, which rescued mitochondrial fusion efficiency. Secondary to altered mitochondrial morphology, mitochondrial calcium uptake resulted decreased in SCA28 cells. CONCLUSION:Our data identify the earliest events in SCA28 pathogenesis and open new perspectives for therapy. By identifying similar mitochondrial phenotypes between SCA28 cells and AFG3L2+/- cells, our results support haploinsufficiency as the mechanism for the studied pathogenic variants.

Published
2019

30. International Analgesia and Sedation Weaning and Withdrawal Practices in Critically Ill Adults: The Adult Iatrogenic Withdrawal Study in the ICU*

Author

Bolesta, Scott, Burry, Lisa, Perreault, Marc M., Gélinas, Céline, Smith, Kathryn E., Eadie, Rebekah, Carini, Federico C., Saltarelli, Katrianna, Mitchell, Jennifer, Harpel, Jamie, Stewart, Ryan, Riker, Richard R., Fraser, Gilles L., Erstad, Brian L., Alcántara, Sara, Aldardeer, Namareq, Alhammad, Abdullah, Almohaish, Sulaiman, Ammar, Mahmoud, Arroyo-Novoa, Carmen Mabel, Awassi, Don-Kelena, Badano, Mariana, Badman, Belinda, Barnes, Sanchia, Bertozzi, Matias, Botros, Shady, Brophy, Gretchen, Brown, Caitlin, Brown, Glen, Buckley, Mitchell, Burgess, Sarah, Campbell, Joshua, Carothers, Chancey, Celario, Patricio, Chambers, Lauren, Chanques, Gérald, Contreras, Sofia, d’Hebron, Vall, Cortes, Jennifer, Cozzi, Gabrielle, Cucci, Michaelia, Cunto, Eleonora, Dao, Denis, Defayette, Aubrey, Dey, Alexandra, Diaz, Anatilde, Dixit, Deepali, Dube, Jean-Noel, Duceppe, Marc-Alexandre, Dzierba, Amy, Farrell, Odran, Ferranti, Pietro, Flannery, Alexander, Fontaine, Gabriel, Forehand, Christy, Nelson, Nydia Funes, Gillet, Manon, Gonzalez, Gustavo Nicolas, Graham-Clarke, Emma, Green, Sarah, Groth, Christine, Hamid, Hytham, Hamilton, Leslie, Hanley, Joanne, Jackson, Jessica, Johnston, Jackie, Kanji, Salmaan, Katzman, Sam, Kenes, Michael, Kinney, Justin, Kohler, Claire, Kovacic, Nicole, Kuroski, Julia, Landolf, Kaitlin, Laotheerachao, Rosalynn, Largana, Samuel, Lebrun, Genevieve, Leonardo, Kate, Levins, Elizabeth, Lewis-Wolfson, Temeka, Mailman, Jonathan, Man, Anna, Mandich, Veronica, McCullagh, Iain, McDonald, Jill, Gil, Antonella Milano, Ng, Wing Sum (Winny), Nguyen, Hang, O’Hare, Madeline, saleh, Jesus eduardo Ochoa, Oswald, Christopher, Patanwala, Asad, Payen, Jean-Francois, Phan, Brian, Radosevich, John, Reiter, Tamara, Remmington, Christopher, Reyes, Viviana, Roberts, Russel, Sagardia, Judith, Sall, Jas, Sanchez, Diego, Shoulders, Bethany, Sneyers, Barbara, Thiboutot, Zoe, Thompson, Melissa, Timmins, Alan, Tolosa, Carina Fernanda, Tolosa, Carina, Junin, Sanatorio, Torres, Valentin Gabriel, Tran, Sandy, Trinh, Thu Ha, Tynan, Sinead, Vu, Lan, Wilson, Franki, Cook, Aaron, Ciolek, Alana, Haines, Aleina, Rodriguez, Alejandra, Cheung, Alexandra, Leong, Amanda, Nisnik, Ana Laura, Mancilla, Ana Maria, Rinehimer, Brandon, Sloan, Brett, Bissell, Brittany, Kulilg, Caitlin, Coombe, Cassandra, Dominguez, Cecilia, Wampole, Chelsea, Rodriguez de la Quintana, Cristhian, Mulodjanov, Darina, Tsoller, Darina, Bowen, David, Gagnon, David, Purkayastha, Debanjali, Ali, Dina, Saidahmed, Elfayadh, Lewandowski, Emily, Schranz, Emily, MacNeil, Erin, Hanks, Fraser, Kassab, Hager, Brokmeier, Hannah, Kaur, Jaspreet, Huntress, Jeff, Clark, Jenna, Falvey, Jennifer, De Giacomo, Jessica, Smith, Jonathan, Ibarzabal, Juan, Niland, Judith, Muir, Justin, Gosek, Kasia, Maynard, Kaylee, Kooda, Kirstin, Pandya, Komal, Kaupp, Kristin, Ebitt, Laura, Bordon, Lucas, Chiscano, Lusi, Sosa, Manuel, Cosep, Marc, Lobo, Marcelo, Monte, Marco Flores, Sandler, Melissa, Bastin, Melissa Thompson, Armahizer, Michael, Wang, Michelle, Eshaghian, Miriam, Rizwan, Mohammad, Patel, Mona, Pistillo, Nestor, Harris, Nicole, Torella, Pau, Phongsamran, Paula, Woo, Priscilla, Garcia, Rhiannon, Sabelli, Rosana Gregori, Grant, Ryan, Delibert, Samantha, Parli, Sara, Wilson, Sharon, Yeung, Siu Yan Amy, Putruele, Sofia, Rappaport, Stephen, Welch, Susan, Moitra, Vivek, and Chediack, Viviana

Published
2023
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31. Clinical characteristics, respiratory management, and determinants of oxygenation in COVID-19 ARDS: A prospective cohort study

Author

Estenssoro, Elisa, Loudet, Cecilia I., Dubin, Arnaldo, Kanoore Edul, Vanina S., Plotnikow, Gustavo, Andrian, Macarena, Romero, Ignacio, Sagardía, Judith, Bezzi, Marco, Mandich, Verónica, Groer, Carla, Torres, Sebastián, Orlandi, Cristina, Rubatto Birri, Paolo N., Valenti, María F., Cunto, Eleonora, Sáenz, María G., Tiribelli, Norberto, Aphalo, Vanina, Bettini, Lisandro, Ríos, Fernando G., and Reina, Rosa

Published
2022
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32. Cenário atual da estrutura das unidades de terapia intensiva na Argentina: resultados do inquérito de autoavaliação de unidades de terapia intensiva da Sociedad Argentina de Terapia Intensiva

Author

Ramiro Gilardino, Antonio Gallesio, María Pilar Arias-López, Nancy Boada, Verónica Mandich, Judith Sagardia, Maria Elena Ratto, and Ariel Fernández

Subjects
Unidades de terapia intensiva/organização e administração, Unidades de terapia intensiva/classificação, Cuidados críticos/organização e administração, Estrutura dos serviços, Instalações de saúde, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9
Abstract

RESUMO Objetivo: Descrever e comparar a estrutura das unidades de terapia intensiva argentinas que responderam ao inquérito de autoavaliação de unidades de terapia intensiva desenvolvido pela Sociedad Argentina de Terapia Intensiva. Métodos: Foi realizado um estudo transversal observacional com uso de um inquérito voluntário online por meio do banco de dados de membros da Sociedad Argentina de Terapia Intensiva e outras publicações em mídias sociais. Foram analisadas as respostas recebidas entre dezembro de 2018 e julho de 2020. Foram utilizados testes não paramétricos e estatística descritiva. Resultados: Foram recebidos 392 inquéritos, sendo 244 considerados para a análise. Eram de unidades de terapia intensiva adulto 77% (187/244), e 23% (57/244) eram de unidades de terapia intensiva pediátrica. A taxa de participação foi de 76%. A amostra incluiu 2.567 leitos de unidades de terapia intensiva (1.981 adulto e 586 pediátrica). Observamos nítida concentração de unidades de terapia intensiva nas regiões Centro e Buenos Aires, Argentina. A mediana de leitos foi de dez (intervalo interquartil 7 - 15). A mediana de monitores multiparamétricos, ventiladores mecânicos e oxímetros de pulso foi de um por leito, sem diferenças regionais ou de tipo de unidade de terapia intensiva (adulto ou pediátrica). Embora nossa amostra tenha evidenciado que as unidades de terapia intensiva pediátrica apresentaram proporção de ventilação mecânica/leito maior do que as unidades de terapia intensiva adulto, esse achado não foi linearmente correlacionado. Conclusão: A Argentina tem concentração notável de leitos de cuidados intensivos e complexidade estrutural superior nas regiões de Buenos Aires e Centro, tanto de unidades de terapia intensiva adulto quanto pediátrica. Além disso, observou-se ausência de dados precisos informados sobre a estrutura e os recursos de unidades de terapia intensiva. São necessárias mais opções de melhoria para alocar os recursos de unidades de terapia intensiva nos níveis institucional e regional.

Published
2022
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33. Propagation estimates in the one-commutator theory

Author

Golenia, Sylvain and Mandich, Marc-Adrien

Subjects
Mathematics - Spectral Theory, Mathematical Physics
Abstract

In the abstract framework of Mourre theory, the propagation of states is understood in terms of a conjugate operator $A$. A powerful estimate has long been known for Hamiltonians having a good regularity with respect to $A$ thanks to the limiting absorption principle (LAP). We study the case where $H$ has less regularity with respect to $A$, specifically in a situation where the LAP and the absence of singularly continuous spectrum have not yet been established. We show that in this case the spectral measure of $H$ is a Rajchman measure and we derive some propagation estimates. One estimate is an application of minimal escape velocities, while the other estimate relies on an improved version of the RAGE formula. Based on several examples, including continuous and discrete Schr\"odinger operators, it appears that the latter propagation estimate is a new result for multi-dimensional Hamiltonians., Comment: With the use of minimal escape velocity, we improve our previous result and show that the spectral measure of a Rajchman measure

Published
2017
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34. Case report: A single novel calpain 3 gene variant associated with mild myopathy.

Author

Massucco, Sara, Fossa, Paola, Fiorillo, Chiara, Faedo, Elena, Gemelli, Chiara, Barresi, Rita, Ripolone, Michela, Patrone, Serena, Gaudio, Andrea, Mandich, Paola, Gotta, Fabio, Baratto, Serena, Traverso, Monica, Pisciotta, Livia, Zaottini, Federico, Camera, Mattia, Scarsi, Elena, and Grandis, Marina

Subjects
LIMB-girdle muscular dystrophy, CALPAIN, CREATINE kinase, PROTEIN folding, MUSCLE fatigue
Abstract

Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described. A man was referred to our neurological outpatient clinic at the age of 54 for persistent hyperCKemia (>1000 U/l) associated with muscle fatigue and myalgia. Clinical examination revealed mild proximal weakness in the lower limbs. His brother exhibited a moderate increase in serum creatine kinase levels (up to 2000 U/l) without other signs of myopathy. Their father experienced slowly progressive lower limb weakness after the age of 50. The calpain 3 variant c.1478G>A (p.Arg493Gln) in the heterozygous state was identified in both brothers. In silico modeling studies predict that this substitution may disrupt protein folding. This represents the first description of the heterozygous p.Arg493Gln calpain 3 variant as a potential cause of mild calpainopathy. [ABSTRACT FROM AUTHOR]

Published
2024
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36. Influence of Body Image, Risk of Eating Disorder, Psychological Characteristics, and Mood-Anxious Symptoms on Overweight and Obesity in Chilean Youth

Author

Paula Lizana-Calderón, Jesús M. Alvarado, Claudia Cruzat-Mandich, Fernanda Díaz-Castrillón, and Mauricio Soto-Núñez

Subjects
overweight, obesity in young people, path analysis, body image, eating disorders, body mass index (BMI), Psychology, BF1-990
Abstract

This study investigates the relationship between body image, eating disorders, psychological characteristics, and mood and anxiety symptoms in Chilean youth, with nutritional status, particularly overweight and obesity. With a sample of 1001 participants from five regions of Chile, aged 15 to 23 years. The Eating Disorder Inventory 3 (EDI-3), the Multidimensional Body-Self Relations Questionnaire Appearance Scales (MBSRQ_AS), and the Symptom Inventory Derogatis Revised (SCL90-R) and a sociodemographic questionnaire were used to analyze these variables. A model including nine exogenous (independent) variables and ten endogenous variables, based on a literature review, was evaluated by path analysis. The results show a significant association between factors such as sex, family history of overweight, self-classification by weight, and body dissatisfaction with body mass index (BMI). Eating behaviors such as overeating, and lack of appetite were also found to be influenced by interpersonal sensitivity, overweight preoccupation, and drive for thinness. The study underscores the importance of promoting a positive body image and addressing overweight/obesity from a combined health psychology and public health perspective, highlighting the need for interventions that consider nutritional status, and in particular overweight and obesity, as a phenomenon with multifactorial causes and maintainers.

Published
2024
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37. Effects of Dietary Plant Protein Replacement with Insect and Poultry By-Product Meals on the Liver Health and Serum Metabolites of Sea Bream (Sparus aurata) and Sea Bass (Dicentrarchus labrax)

Author

Valeria Donadelli, Patrizia Di Marco, Alberta Mandich, Maria Grazia Finoia, Gloriana Cardinaletti, Tommaso Petochi, Alessandro Longobardi, Emilio Tibaldi, and Giovanna Marino

Subjects
liver histology, liver index, sustainable feed, poultry by-product meal, Hermetia illucens meal, plant protein, Veterinary medicine, SF600-1100, Zoology, QL1-991
Abstract

The liver health of Gilthead sea bream and European sea bass, fed with fish meal-free diets, including various proportions of plant proteins, as well as insect and poultry by-product meals, was investigated through biochemical and histological analyses using a new liver index (LI) formula. Four isoproteic (45% Dry Matter, DM) and isolipidic (20% DM) diets were compared, including a plant-based control diet (CV) and three other test diets, in which 40% of a plant protein-rich ingredient mixture was replaced with meals from Hermetia illucens (H40) or poultry by-product (P40) alone, or in combination (H10P30). The trials lasted 12 and 18 weeks for sea bream and sea bass, respectively. The results obtained thus far highlighted species-specific differences in the physiological response to dietary changes. In sea bream, the biochemical and histological responses suggest favorable physiological and liver health statuses, with higher serum cholesterol (CHO) and triglyceride (TAG) levels, as well as moderate hepatocyte lipid accumulation, with the H10P30 diet compared to the CV (p < 0.05). In sea bass, all diets resulted in elevated serum TAG levels and lipid accumulation in the liver, particularly in fish fed the P40 one (p < 0.05), which resulted in the highest LI, coupled with a higher frequency of severe lipid accumulation, hypertrophy, cord loss, peripheral nuclei displacement, and pyknosis. In conclusion, sea bream adapted well to the test diets, whereas sea bass exhibited altered hepatic lipid metabolism leading to incipient liver steatosis, likely due to the high lipid contents of the diets, including the insect and poultry meals. The LI formula developed in this study proved to be a reliable tool for assessing the effects of dietary changes on the liver health of sea bream and sea bass, consistent with biochemical and histological findings.

Published
2024
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38. Kidney Disease, Hypertension Treatment, and Cerebral Perfusion and Structure

Author

Whelton, Paul, Johnson, Karen C., Snyder, Joni, Bild, Diane, Bonds, Denise, Cook, Nakela, Cutler, Jeffrey, Fine, Lawrence, Kaufmann, Peter, Kimmel, Paul, Launer, Lenore, Moy, Claudia, Riley, William, Ryan, Laurie, Tolunay, Eser, Yang, Song, Reboussin, David, Williamson, Jeff, Ambrosius, Walter T., Applegate, William, Evans, Greg, Foy, Capri, Freedman, Barry I., Kitzman, Dalane, Lyles, Mary, Pajewski, Nick, Rapp, Steve, Rushing, Scott, Shah, Neel, Sink, Kaycee M., Vitolins, Mara, Wagenknecht, Lynne, Wilson, Valerie, Perdue, Letitia, Woolard, Nancy, Craven, Tim, Garcia, Katelyn, Gaussoin, Sarah, Lovato, Laura, Newman, Jill, Lovato, James, Lu, Lingyi, McLouth, Chris, Russell, Greg, Amoroso, Bobby, Davis, Patty, Griffin, Jason, Harris, Darrin, King, Mark, Lane, Kathy, Roberson, Wes, Steinberg, Debbie, Ashford, Donna, Babcock, Phyllis, Chamberlain, Dana, Christensen, Vickie, Cloud, Loretta, Collins, Christy, Cook, Delilah, Currie, Katherine, Felton, Debbie, Harpe, Stacy, Howard, Marjorie, Lewis, Michelle, Nance, Pamela, Puccinelli-Ortega, Nicole, Russell, Laurie, Walker, Jennifer, Craven, Brenda, Goode, Candace, Troxler, Margie, Davis, Janet, Hutchens, Sarah, Killeen, Anthony A., Lukkari, Anna M., Ringer, Robert, Dillard, Brandi, Archibeque, Norbert, Warren, Stuart, Sather, Mike, Pontzer, James, Taylor, Zach, Soliman, Elsayed Z., Zhang, Zhu-Ming, Li, Yabing, Campbell, Chuck, Hensley, Susan, Hu, Julie, Keasler, Lisa, Barr, Mary, Taylor, Tonya, Bryan, R. Nick, Davatzikos, Christos, Nasarallah, Ilya, Desiderio, Lisa, Elliott, Mark, Borthakur, Ari, Battapady, Harsha, Erus, Guray, Smith, Alex, Wang, Ze, Doshi, Jimit, Wright, Jackson T., Jr., Rahman, Mahboob, Lerner, Alan J., Still, Carolyn, Wiggers, Alan, Zamanian, Sara, Bee, Alberta, Dancie, Renee, Thomas, George, Schreiber, Martin, Jr., Navaneethan, Sankar Dass, Hickner, John, Lioudis, Michael, Lard, Michelle, Marczewski, Susan, Maraschky, Jennifer, Colman, Martha, Aaby, Andrea, Payne, Stacey, Ramos, Melanie, Horner, Carol, Drawz, Paul, Raghavendra, Pratibha P., Ober, Scott, Mourad, Ronda, Pallaki, Muralidhar, Russo, Peter, Raghavendra, Pratibha, Fantauzzo, Pual, Tucker, Lisa, Schwing, Bill, Sedor, John R., Horwitz, Edward J., Schellling, Jeffrey R., O’Toole, John F., Humbert, Lisa, Tutolo, Wendy, White, Suzanne, Gay, Alishea, Clark, Walter, Jr., Hughes, Robin, Dobre, Mirela, Still, Carolyn H., Williams, Monique, Bhatt, Udayan, Hebert, Lee, Agarwal, Anil, Murphy, Melissa Brown, Ford, Nicole, Stratton, Cynthia, Baxter, Jody, Lykins, Alicia A., McKinley Neal Leena Hirmath, Alison, Kwame, Osei, Soe, Kyaw, Miser, William F., Sagrilla, Colleen, Johnston, Jan, Anaya, Amber, Mintos, Ashley, Howell, Angel A., Rogers, Kelly, Taylor, Sara, Ebersbacher, Donald, Long, Lucy, Bednarchik, Beth, Schnall, Adrian, Smith, Jonathan, Peysha, Lori, Leach, Lisa, Tribout, Megan, Harwell, Carla, Ellington, Pinkie, Banerji, Mary Ann, Ghody, Pranav, Rambaud, Melissa Vahídeh, Townsend, Raymond, Cohen, Debbie, Huan, Yonghong, Duckworth, Mark, Ford, Virginia, Leshner, Juliet, Davison, Ann, Veen, Sarah Vander, Gadegbeku, Crystal A., Gillespie, Avi, Paranjape, Anuradha, Amoroso, Sandra, Pfeffer, Zoe, Quinn, Sally B., He, Jiang, Chen, Jing, Lustigova, Eva, Malone, Erin, Krousel-Wood, Marie, Deichmann, Richard, Ronney, Patricia, Muery, Susan, Trapani, Donnalee, Rocco, Michael, Goff, David, Rodriguez, Carlos, Coker, Laura, Hawfield, Amret, Yeboah, Joseph, Crago, Lenore, Summerson, John, Hege, Anita, Diamond, Matt, Mulloy, Laura, Hodges, Marcela, Collins, Michelle, Weathers, Charlene, Anderson, Heather, Stone, Emily, Walker, Walida, McWilliams, Andrew, Dulin, Michael, Kuhn, Lindsay, Standridge, Susan, Lowe, Lindsay, Everett, Kelly, Preston, Kelry, Norton, Susan, Gaines, Silena, Rizvi, Ali A., Sides, Andrew W., Herbert, Diamond, Hix, Matthew M., Whitmire, Melanie, Arnold, Brittany, Hutchinson, Philip, Espiritu, Joseph, Feinglos, Mark, Kovalik, Eugene, Gedon-Lipscomb, Georgianne, Evans, Kathryn, Thacker, Connie, Zimmer, Ronna, Furst, Mary, Mason, MaryAnn, Powell, James, Bolin, Paul, Zhang, Junhong, Pinion, Mary, Davis, Gail, Bryant, Winifred, Phelps, Presley, Garris-Sutton, Connie, Atkinson, Beatrice, Contreras, Gabriele, Suarez, Maritza, Schulman, Ivonne, Koggan, Don, Vassallo, Jackie, Peruyera, Gloria, Whittington, Sheri, Bethea, Cassandra, Gilliam, Laura, Pedley, Carolyn, Zurek, Geraldine, Baird, Miriam, Herring, Charles, Smoak, Mary Martha, Williams, Julie, Rogers, Samantha, Gordon, Lindsay, Kennedy, Erin, Belle, Beverly, McCorkle-Doomy, Jessica, Adams, Jonathan, Lopez, Ramon, Janavs, Juris, Rahbari-Oskoui, Frederic, Chapman, Arlene, Dollar, Allen, Williams, Olubunmi, Han, Yoosun, Haley, William, Fitzpatrick, Peter, Blackshear, Joseph, Shapiro, Brian, Harrell, Anna, Palaj, Arta, Henderson, Katelyn, Johnson, Ashley, Gonzalez, Heath, Robinson, Jermaine, Tamariz, Leonardo, Denizard, Jennifer, Barakat, Rody, Krishnamoorthy, Dhurga, Greenway, Frank, Monce, Ron, Church, Timothy, Hendrick, Chelsea, Yoches, Aimee, Sones, Leighanne, Baltazar, Markee, Pemu, Priscilla, Jones, Connie, Akpalu, Derrick, Cheung, Alfred K., Beddhu, Srinivasan, Chelune, Gordon, Childs, Jeffrey, Gren, Lisa, Randall, Anne, Dember, Laura, Soares, Denise, Yee, Jerry, Umanath, Kausik, Ogletree, Naima, Thaxton, Schawana, Campana, Karen, Sheldon, Dayna, MacArthur, Krista, Muhlestein, J. Brent, Allred, Nathan, Clements, Brian, Dhar, Ritesh, Meredith, Kent, Le, Viet, Miner, Edward, Orford, James, Riessen, Erik R., Ballantyne, Becca, Chisum, Ben, Johnson, Kevin, Peeler, Dixie, Chertow, Glenn, Tamura, Manju, Chang, Tara, Erickson, Kevin, Shen, Jenny, Stafford, Randall S., Zaharchuk, Gregory, Del Cid, Margareth, Dentinger, Michelle, Sabino, Jennifer, Sahay, Rukmani, Telminova, Ekaterina, Weiner, Daniel E., Sarnak, Mark, Chan, Lily, Civiletto, Amanda, Heath, Alyson, Kantor, Amy, Jain, Priyanka, Kirkpatrick, Bethany, Well, Andrew, Yuen, Barry, Chonchol, Michel, Farmer, Beverly, Farmer, Heather, Greenwald, Carol, Malaczewski, Mikaela, Lash, James, Porter, Anna, Ricardo, Ana, Rosman, Robert T., Cohan, Janet, Barrera, Nieves Lopez, Meslar, Daniel, Meslar, Patricia, Conroy, Margaret, Unruh, Mark, Hess, Rachel, Jhamb, Manisha, Thomas, Holly, Fazio, Pam, Klixbull, Elle, Komlos-Weimer, Melissa, Mandich, LeeAnne, Vita, Tina, Toto, Robert, Van Buren, Peter, Inrig, Julia, Cruz, Martha, Lightfoot, Tammy, Wang, Nancy, Webster, Lori, Raphael, Kalani, Stults, Barry, Zaman, Tahir, Simmons, Debra, Lavasani, Tooran, Filipowicz, Rebecca, Wei, Guo, Miller, Gracie Mary, Harerra, Jenice, Christensen, Jeff, Giri, Ajay, Chen, Xiaorui, Anderton, Natalie, Jensen, Arianna, Lewis, Julia, Burgner, Anna, Dwyer, Jamie P., Schulman, Gerald, Herrud, Terri, Leavell, Ewanda, McCray, Tiffany, McNeil-Simaan, Edwina, Poudel, Munmun, Reed, Malia, Sika, Mohammed, Woods, Delia, Zirkenbach, Janice L., Raj, Dominic S., Cohen, Scott, Patel, Samir, Velasquez, Manuel, Bastian, Roshni S., Wing, Maria, Roy-Chaudhury, Akshay, Depner, Thomas, Dalyrymple, Lorien, Kaysen, George, Anderson, Susan, Nord, John, Ix, Joachim H., Goldenstein, Leonard, Miracle, Cynthia M., Forbang, Nketi, Mircic, Maja, Thomas, Brenda, Tran, Tiffany, Rastogi, Anjay, Kim, Mihae, Rashid, Mohamad, Lizarraga, Bianca, Hocza, Amy, Sarmosyan, Kristine, Norris, Jason, Sharma, Tushar, Chioy, Amanda, Bernard, Eric, Cabrera, Eleanore, Lopez, Christina, Nunez, Susana, Riad, Joseph, Schweitzer, Suzanne, Sirop, Siran, Thomas, Sarah, Wada, Lauren, Kramer, Holly, Bansal, Vinod, Taylor, Corliss E., Segal, Mark S., Hall, Karen L., Kazory, Amir, Gilbert, Lesa, Owens, Linda, Poulton, Danielle, Whidden, Elaine, Wiggins, Jocelyn, Blaum, Caroline, Nyquist, Linda, Min, Lillian, Gure, Tanya, Lewis, Ruth, Mawby, Jennifer, Robinson, Eileen, Oparil, Suzanne, Lewis, Cora E., Bradley, Virginia, Calhoun, David, Glasser, Stephen, Jenkins, Kim, Ramsey, Tom, Qureshi, Nauman, Ferguson, Karen, Haider, Sumrah, James, Mandy, Jones, Christy, Renfroe, Kim, Seay, April, Weigart, Carrie, Thornley-Brown, Denyse, Rizik, Dana, Cotton, Bari, Fitz-Gerald, Meredith, Grimes, Tiffany, Johnson, Carolyn, Kennedy, Sara, Mason, Chanel, Rosato-Burson, Lesa, Willingham, Robin, Judd, Eric, Breaux-Shropshire, Tonya, Cook, Felice, Medina, Julia, Ghazi, Lama, Bhatt, Hemal, Lewis, James, Brantley, Roman, Brouilette, John, Glaze, Jeffrey, Hall, Stephanie, Hiott, Nancy, Tharpe, David, Boddy, Spencer, Mack, Catherine, Womack, Catherine, Asao, Keiko, Griffin, Beate, Hendrix, Carol, Johnson, Karen, Jones, Lisa, Towers, Chelsea, Punzi, Henry, Cassidy, Kathy, Schumacher, Kristin, Irizarry, Carmen, Colon, Ilma, Colon-Ortiz, Pedro, Colón-Hernández, Pedro J., Carrasquillo-Navarro, Orlando J., Carrasquillo, Merari, Vazquez, Nivea, Sosa-Padilla, Miguel, Cintron-Pinero, Alex, Ayala, Mayra, Pacheco, Olga, Rivera, Catalina, Sotomayor-Gonzalez, Irma, Claudio, Jamie, Lazaro, Jose, Arce, Migdalia, Heres, Lourdes, Perez, Alba, Tavarez-Valle, Jose, Arocho, Ferlinda, Torres, Mercedes, Vazquez, Melvaliz, Aurigemma, Gerard P., Takis-Smith, Rebecca, Andrieni, Julia, Bodkin, Noelle, Chaudhary, Kiran, Hu, Paula, Kostis, John, Cosgrove, Nora, Bankowski, Denise, Boleyn, Monica, Casazza, Laurie, Giresi, Victoria, Patel, Tosha, Squindo, Erin, Wu, Yan, Henson, Zeb, Wofford, Marion, Lowery, Jessica, Minor, Deborah, Harkins, Kimberley, Auchus, Alexander, Flessner, Michael, Adair, Cathy, Asher, Jordan, Loope, Debbie, Cobb, Rita, Venegas, Reiner, Bigger, Thomas, Bello, Natalie, Homma, Shunichi, Donovan, Daniel, Lopez-Jimenez, Carlos, Tirado, Amilcar, Getaneh, Asqual, Tang, Rocky, Durant, Sabrina, Maurer, Mathew, Teruya, Sergio, Helmke, Stephen, Alvarez, Julissa, Campbell, Ruth, Pisoni, Roberto, Sturdivant, Rachel, Brooks, Deborah, Counts, Caroline, Hunt, Vickie, Spillers, Lori, Brautigam, Donald, Kitchen, Timothy, Gorman, Timothy, Sayers, Jessica, Button, Sarah, Chiarot, June, Fischer, Rosemary, Lyon, Melissa, Resnick, Maria, Hodges, Nicole, Ferreira, Jennifer, Cushman, William, Wall, Barry, Nichols, Linda, Burns, Robert, Martindale-Adams, Jennifer, Berlowitz, Dan, Clark, Elizabeth, Walsh, Sandy, Geraci, Terry, Huff, Carol, Shaw, Linda, Servilla, Karen, Vigil, Darlene, Barrett, Terry, Sweeney, Mary Ellen, Johnson, Rebecca, McConnell, Susan, Salles, Khadijeh Shahid, Watson, Francoise, Schenk, Cheryl, Whittington, Laura, Maher, Maxine, Williams, Jonathan, Swartz, Stephen, Conlin, Paul, Alexis, George, Lamkin, Rebecca, Underwood, Patti, Gomes, Helen, Rosendorff, Clive, Atlas, Stephen, Khan, Saadat, Gonzalez, Waddy, Barcham, Samih, Kwon, Lawrence, Matar, Matar, Adhami, Anwar, Basile, Jan, John, Joseph, Ham, Deborah, Baig, Hadi, Saklayen, Mohammed, Yap, Jason, Neff, Helen, Miller, Carol, Zheng-Phelan, Ling, Gappy, Saib, Rau, Shiva, Raman, Arathi, Berchou, Vicki, Jones, Elizabeth, Olgren, Erin, Marbury, Cynthia, Yudd, Michael, Sastrasinh, Sithiporn, Michaud, Jennine, Fiore, Jessica, Kutza, Marianne, Shorr, Ronald, Mount, Rattana, Dunn, Helen, Stinson, Susan, Hunter, Jessica, Taylor, Addison, Bates, Jeffery, Anderson, Catherine, Kirchner, Kent, Stubbs, Jodi, Hinton, Ardell, Spencer, Anita, Sharma, Santosh, Wiegmann, Thomas, Mehta, Smita, Krause, Michelle, Dishongh, Kate, Childress, Richard, Gyamlani, Geeta, Niakan, Atossa, Thompson, Cathy, Moody, Janelle, Gresham, Carolyn, Whittle, Jeffrey, Barnas, Gary, Wolfgram, Dawn, Cortese, Heidi, Johnson, Jonette, Roumie, Christianne, Hung, Adriana, Wharton, Jennifer, Niesner, Kurt, Katz, Lois, Richardson, Elizabeth, Brock, George, Holland, Joanne, Dixon, Troy, Zias, Athena, Spiller, Christine, Baker, Penelope, Felicetta, James, Rehman, Shakaib, Bingham, Kelli, Watnick, Suzanne, Cohen, David, Weiss, Jessica, Johnston, Tera, Giddings, Stephen, Yamout, Hala, Klein, Andrew, Rowe, Caroline, Vargo, Kristin, Waidmann, Kristi, Papademetriou, Vasilios, Elkhoury, Jean Pierre, Gregory, Barbara, Amodeo, Susan, Bloom, Mary, Goldfarb-Waysman, Dalia, Treger, Richard, Kashefi, Mehran, Huang, Christina, Knibloe, Karen, Ishani, Areef, Slinin, Yelena, Olney, Christine, Rust, Jacqueline, Fanti, Paolo, Dyer, Christopher, Bansal, Shweta, Dunnam, Monica, Hu, Lih-Lan, Zarate-Abbott, Perla, Kurella Tamura, Manjula, Pajewski, Nicholas M., Zaharchuk, Greg, Rapp, Stephen R., Auchus, Alexander P., Haley, William E., Kendrick, Jessica, Roumie, Christianne L., Williamson, Jeff D., Detre, John A., Dolui, Sudipto, and Nasrallah, Ilya M.

Published
2022
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40. Comparative efficacy of remotely delivered mindfulness-based eating awareness training versus behavioral-weight loss counseling during COVID-19

Author

Carla Ugarte Pérez, Claudia Cruzat-Mandich, Álvaro Quiñones Bergeret, Dafne Díaz-Tendero, Marcela Gallegos, Aurora A. Gil, and Antonio Cepeda-Benito

Subjects
binge eating, emotional eating, external eating, mindful eating, mindfulness-based eating awareness training, randomized controlled trial, Psychology, BF1-990
Abstract

IntroductionDysregulated eating (emotional eating, cue-elicited eating, and dietary restraint and restriction) has been linked to being overweight or obese. The present investigation used a random controlled trial (RCT) to test the differential efficacy of remotely delivered Mindfulness-Based Eating Awareness Training (MB-EAT) and Behavioral Weight Loss (BWL) counseling.MethodsThe sample was recruited through advertisements that offered help to people “with problems controlling their eating” or “interested in improving their relationship with food” (n = 135).ResultsRetention was low in both groups (42%), but not dissimilar to retention rates reported in related clinical trials delivered “in person.” Among the participants who completed treatment, we found no between-group differences in any of the treatment outcomes, but participants in both groups experienced significant increases in eating-related mindfulness [Mindful Eating Questionnaire (MEQ) and awareness [Multidimensional Assessment of Interoceptive Awareness (MAIA), and significant decreases in unhealthy eating patterns [Dutch Eating Behavior Questionnaire (DEBQ); Binge Eating Scale (BES), and weight over the course of treatment. Participants in both groups also experienced increases in self-reported depression and anxiety symptoms [Hospital Anxiety and Depression Scale (HADS)], although these increases likely reflected normative changes observed in the population at large during COVID-19.DiscussionOverall, the results suggest that dysregulated eating and weight loss intervention delivered remotely via teleconference can be effective.

Published
2023
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41. Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy

Author

Bertini, Alessandro, primary, Gentile, Luca, additional, Cavallaro, Tiziana, additional, Tozza, Stefano, additional, Saveri, Paola, additional, Russo, Massimo, additional, Massucco, Sara, additional, Falzone, Yuri Matteo, additional, Bellone, Emilia, additional, Taioli, Federica, additional, Geroldi, Alessandro, additional, Occhipinti, Giuseppe, additional, Ferrarini, Moreno, additional, Cavalca, Eleonora, additional, Crivellari, Luca, additional, Mandich, Paola, additional, Balistreri, Francesca, additional, Magri, Stefania, additional, Taroni, Franco, additional, Previtali, Stefano Carlo, additional, Schenone, Angelo, additional, Grandis, Marina, additional, Manganelli, Fiore, additional, Fabrizi, Gian Maria, additional, Mazzeo, Anna, additional, Pareyson, Davide, additional, and Pisciotta, Chiara, additional

Published
2024
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42. Adding power of artificial intelligence to situational awareness of large interconnections dominated by inverter‐based resources

Author

Lin Zhu, Yinfeng Zhao, Yi Cui, Shutang You, Wenpeng Yu, Shengyuan Liu, He Yin, Chang Chen, Yuru Wu, Wei Qiu, Mirka Mandich, Hongyu Li, Adedasola Ademola, Chengwen Zhang, Chujie Zeng, Xinlan Jia, Weikang Wang, Haoyu Yuan, Huaiguang Jiang, Jin Tan, and Yilu Liu

Subjects
artificial intelligence, invertors, power engineering computing, power grids, power system interconnection, power system stability, Electrical engineering. Electronics. Nuclear engineering, TK1-9971, Electricity, QC501-721
Abstract

Abstract Large‐scale power systems exhibit more complex dynamics due to the increasing integration of inverter‐based resources (IBRs). Therefore, there is an urgent need to enhance the situational awareness capability for better monitoring and control of power grids dominated by IBRs. As a pioneering Wide‐Area Measurement System, FNET/GridEye has developed and implemented various advanced applications based on the collected synchrophasor measurements to enhance the situational awareness capability of large‐scale power grids. This study provides an overview of the latest progress of FNET/GridEye. The sensors, communication, and data servers are upgraded to handle ultra‐high density synchrophasor and point‐on‐wave data to monitor system dynamics with more details. More importantly, several artificial intelligence (AI)‐based advanced applications are introduced, including AI‐based inertia estimation, AI‐based disturbance size and location estimation, AI‐based system stability assessment, and AI‐based data authentication.

Published
2021
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43. Sub-exponential decay of eigenfunctions for some discrete Schr\'odinger operators

Author

Mandich, Marc-Adrien

Subjects
Mathematics - Spectral Theory, Mathematical Physics, Mathematics - Functional Analysis
Abstract

Following the method of Froese and Herbst, we show for a class of potentials V that an eigenfunction $\psi$ with eigenvalue E of the multi-dimensional discrete Schr\"odinger operator H = $\Delta$ + V on \mathbb{Z}^d decays sub-exponentially whenever the Mourre estimate holds at E. In the one-dimensional case we further show that this eigenfunction decays exponentially with a rate at least of cosh^{--1}((E -- 2)/($\theta$\_E -- 2)), where $\theta$\_E is the nearest threshold of H located between E and 2. A consequence of the latter result is the absence of eigenvalues between 2 and the nearest thresholds above and below this value. The method of Combes-Thomas is also reviewed for the discrete Schr\"odinger operators.

Published
2016
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44. The limiting absorption principle for the discrete Wigner-von Neumann operator

Author

Mandich, Marc-Adrien

Subjects
Mathematics - Spectral Theory, Mathematical Physics, Mathematics - Functional Analysis
Abstract

We apply weighted Mourre commutator theory to prove the limiting absorption principle for the discrete Schr{\"o}dinger operator perturbed by the sum of a Wigner-von Neumann and long-range type potential. In particular, this implies a new result concerning the absolutely continuous spectrum for these operators even for the one-dimensional operator. We show that methods of classical Mourre theory based on differential inequalities and on the generator of dilation cannot apply to the mentionned Schr{\"o}dinger operators.

Published
2016
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45. Multi-Timescale Integrated Dynamics and Scheduling for Solar (MIDAS-Solar) (Final Technical Report)

Author

Tan, Jin, primary, Hoke, Andy, additional, Yuan, Haoyu, additional, Wang, Bin, additional, Kenyon, Rick, additional, Fang, Xin, additional, Koralewicz, Przemyslaw, additional, Mendiola, Emanuel, additional, Zhang, Yingchen, additional, Liu, Yilu, additional, You, Shutang, additional, Mandich, Mirka, additional, Zhao, Annie, additional, Wang, Jianhui, additional, Yin, Shengfei, additional, Lin, Yanling, additional, Ela, Erik, additional, Singhvi, Vikas, additional, Mitra, Parag, additional, and Entrike, Robert, additional

Published
2023
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46. Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy

Author

Bertini, Alessandro, Gentile, Luca, Cavallaro, Tiziana, Tozza, Stefano, Saveri, Paola, Russo, Massimo, Massucco, Sara, Falzone, Yuri Matteo, Bellone, Emilia, Taioli, Federica, Geroldi, Alessandro, Occhipinti, Giuseppe, Ferrarini, Moreno, Cavalca, Eleonora, Crivellari, Luca, Mandich, Paola, Balistreri, Francesca, Magri, Stefania, Taroni, Franco, Previtali, Stefano Carlo, Schenone, Angelo, Grandis, Marina, Manganelli, Fiore, Fabrizi, Gian Maria, Mazzeo, Anna, Pareyson, Davide, and Pisciotta, Chiara

Abstract

BackgroundWe aimed to investigate the clinical features of a large cohort of patients with myelin protein zero (MPZ)-related neuropathy, focusing on the five main mutation clusters across Italy.MethodsWe retrospectively gathered a minimal data set of clinical information in a series of patients with these frequent mutations recruited among Italian Charcot-Marie-Tooth (CMT) registry centres, including disease onset/severity (CMTES-CMT Examination Score), motor/sensory symptoms and use of orthotics/aids.ResultsWe collected data from 186 patients: 60 had the p.Ser78Leu variant (‘classical’ CMT1B; from Eastern Sicily), 42 the p.Pro70Ser (CMT2I; mainly from Lombardy), 38 the p.Thr124Met (CMT2J; from Veneto), 25 the p.Ser44Phe (CMT2I; from Sardinia) and 21 the p.Asp104ThrfsX13 (mild CMT1B; from Apulia) mutation. Disease severity (CMTES) was higher (p<0.001) in late-onset axonal forms (p.Thr124Met=9.2±6.6; p.Ser44Phe=7.8±5.7; p.Pro70Ser=7.6±4.8) compared with p.Ser78Leu (6.1±3.5) patients. Disease progression (ΔCMTES/year) was faster in the p.Pro70Ser cohort (0.8±1.0), followed by p.Ser44Phe (0.7±0.4), p.Thr124Met (0.4±0.5) and p.Ser78Leu (0.2±0.4) patients. Disease severity (CMTES=1.2±1.5), progression (ΔCMTES/year=0.1±0.4) and motor involvement were almost negligible in p.Asp104ThrfsX13 patients, who, however, frequently (78%, p<0.001) complained of neuropathic pain. In the other four clusters, walking difficulties were reported by 69–85% of patients, while orthotic and walking aids use ranged between 40–62% and 16–28%, respectively.ConclusionsThis is the largest MPZ(and late-onset CMT2) cohort ever collected, reporting clinical features and disease progression of 186 patients from five different clusters across Italy. Our findings corroborate the importance of differentiating between ‘classical’ childhood-onset demyelinating, late-onset axonal and mild MPZ-related neuropathy, characterised by different pathomechanisms, in view of different therapeutic targets.

Published
2025
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47. A case of Huntington disease‐like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era

Author

Federica Ruscitti, Paola Origone, Giulia Rosti, Lucia Trevisan, Roberta Marchese, Andrea Brugnolo, Federico Massa, Paola Castellini, and Paola Mandich

Subjects
brazilian ancestry, chorea, huntington disease‐like 2, JPH3, Medicine, Medicine (General), R5-920
Abstract

Abstract Chorea, cognitive decline, and psychiatric symptoms are shared by Huntington’s disease (HD) and similar conditions called HD phenocopies. We describe the first case reported in Italy of Huntington disease‐like 2 (HDL2), clinically and radiologically indistinguishable from HD, showing the importance of considering African ancestry in the diagnostic process.

Published
2022
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48. The energy budget of GRBs based on updated prompt \& afterglow observations

Author

Wygoda, Nahliel, Guetta, Dafne, Mandich, Marc-Adrien, and Waxman, Eli

Subjects
Astrophysics - High Energy Astrophysical Phenomena
Abstract

We compare the isotropic equivalent 15-2000 keV gamma-ray energy, E_gamma, emitted by a sample of 91 swift Gamma-Ray Bursts (GRBs) with known redshifts, with the isotropic equivalent fireball energy, E_fb, as estimated within the fireball model framework from X-ray afterglow observations of these bursts. The uncertainty in E_gamma, which spans the range of ~10^51 erg to ~10^53.5 erg, is approximately 25% on average, due mainly to the extrapolation from the BAT detector band to the 15-2000 keV band. The uncertainty in E_fb is approximately a factor of 2, due mainly to the X-ray measurements' scatter. We find E_gamma and E_fb to be tightly correlated. The average(std) of {\eta}^11hr_gamma is approximately log_10(E_gamma/(3{\epsilon} _eE^11hr_fb)) are -0.34(0.60), and the upper limit on the intrinsic spread of {\eta}_gamma is approximately 0.5 ({\epsilon}_e is the fraction of shocked plasma energy carried by electrons and E^x hr_fb is inferred from the X-ray flux at x hours). We also find that E_fb inferred from X-ray observations at 3 and 11 hours are similar, with an average(std) of log_10(E^3hr_fb/E^11hr_fb) of 0.04(0.28). The small variance of {\eta}_gamma implies that burst-to-burst variations in {\epsilon}_e and in the efficiency of fireball energy conversion to gamma-rays are small, and suggests that both are of order unity. The small variance of {\eta}_gamma and the similarity of E^3hr_fb and E^11hr_fb further imply that {\epsilon}_e does not vary significantly with shock Lorentz factor, and that for most bursts the modification of fireball energy during the afterglow phase, by processes such as radiative losses or extended duration energy injection, are not significant. Finally, our results imply that if fireballs are indeed jets, then the jet opening angle satisfies {\theta}>0.1 for most cases. [abridged], Comment: An expanded discussion of the absence of energy injection and 'flat X-ray phases' in the majority of bursts

Published
2015
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50. The growth and extent of Rome : from fringe to suburb

Author

Mandich, Matthew James, Christie, Neil, and Stewart, Daniel

Subjects
937
Abstract

This thesis takes an interdisciplinary, multi-theoretical approach to investigate the physical growth and expansion of ancient Rome in relation to its concomitant economic and demographic development from its inception as a decidedly urban entity in the Archaic period (6th century BC) to the construction of the Aurelian Wall in the later 3rd century AD. In particular, it seeks to achieve more accurate delineations of Rome’s urban and suburban space, diachronically, and to analyze and qualify Rome’s physical and economic expansion through a re-assessment of the available archaeological and textual evidence and the employment of models and theories from disciplines such as Economic Geography, Regional Science, Urban Morphology, and Complexity Science. As such, case studies from Rome’s eastern periphery and so-called ‘suburbium’ were used to more fully explore and evaluate the applicability and usefulness of frameworks designed for the study of contemporary cities in an ancient setting. The results presented show that such approaches do have value for tracking and examining Rome’s urban and suburban growth on local, regional, and macro scales. In addition, their application allows both the underlying stimuli behind the City’s urban and suburban expansion, as well as the impacts of it, to be analyzed and understood in novel and meaningful ways. Furthermore, as an emerging framework known as Settlement Scaling Theory indicates the physical, demographic, and economic growth of settlements correlate in both past and present urban systems, the style and speed of Rome’s urban growth should also be seen to reflect its economic and demographic development, which has significant implications for how we interpret the City’s archaeological remains.

Published
2017

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