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1. Sequential acquisition of fluorescence signals with changing fluorophore concentrations. Multivariate Curve Resolution with time measurements assistance

Author

Siano, Gabriel, Mora, Sofia, Schenone, Agustina, and Giovanini, Leonardo

Subjects
Physics - Medical Physics, Physics - Biological Physics, Physics - Instrumentation and Detectors
Abstract

Sequential registering of fluorescence signals in conventional Excitation-Emission Matrices (EEMs), followed by modeling based on multilinear properties of the data, requires stable fluorophore concentrations throughout the acquisition of each EEM. Rapid concentration changes, as seen in chromatography or certain kinetics, can disrupt the conventional bilinearity of EEMs. This deviation depends on the relative rates of concentration changes versus spectral scanning speeds. Although entire scans can be slow, individual data points are acquired almost instantaneously, maintaining linear dependencies. Within specific time intervals, concentrations can be assumed constant. By using time-based localization, partial EEM data can be organized into partially filled cubes that allow for the correct modeling of third-order data. Additionally, Multivariate Curve Resolution requires reshaping operations. Two third-order datasets were analyzed using a time-assisted MCR implementation, following a strategy similar to one reported for chromatographic data (LC-EEM) with Parallel Factor Analysis. The second dataset comes from Diclofenac reaction kinetics (Kin-EEM). The results suggest that time-assisted MCR resolves such data effectively. The solutions found were similar to those obtained when processing the same data as cubes. Predictions from calibration models based on MCR results were comparable to those obtained when deriving higher order models from the same data. High degrees of similarity were achieved between resolved and reference spectral profiles. Both chromatographic and kinetic profiles were accurate and physically meaningful. The proposed strategy highlights the potential of incorporating time-based localization to enhance the analysis of fluorescence data in dynamic systems.

Published
2025

2. Consistent Conjectures in Dynamic Matching Markets

Author

Doval, Laura and Schenone, Pablo

Subjects
Economics - Theoretical Economics, Computer Science - Computer Science and Game Theory
Abstract

We provide a framework to study stability notions for two-sided dynamic matching markets in which matching is one-to-one and irreversible. The framework gives center stage to the set of matchings an agent anticipates would ensue should they remain unmatched, which we refer to as the agent's conjectures. A collection of conjectures, together with a pairwise stability and individual rationality requirement given the conjectures, defines a solution concept for the economy. We identify a sufficient condition--consistency--for a family of conjectures to lead to a nonempty solution (cf. Hafalir, 2008). As an application, we introduce two families of consistent conjectures and their corresponding solution concepts: continuation-value-respecting dynamic stability, and the extension to dynamic markets of the solution concept in Hafalir (2008), sophisticated dynamic stability.

Published
2024

5. Gelation and localization in multicomponent coagulation with multiplicative kernel through branching processes

Author

Hoogendijk, Jochem, Kryven, Ivan, and Schenone, Camillo

Subjects
Mathematical Physics, Mathematics - Probability, 60J80, 82C05
Abstract

The multicomponent coagulation equation is a generalisation of the Smoluchowski coagulation equation in which size of a particle is described by a vector. As with the original Smoluchowski equation, the multicomponent coagulation equation features gelation when supplied with a multiplicative kernel. Additionally, a new type of behaviour called localization is observed due to the multivariate nature of the particle size distribution. Here we extend and apply the branching process representation technique, which we introduced to study differential equations in our previous work, to find a concise probabilistic solution of the multicomponent coagulation equation supplied with monodisperse initial conditions and provide short proofs for the gelation time and localization., Comment: 12 pages

Published
2024

9. Disentangling Revealed Preference From Rationalization by a Preference

Author

Schenone, Pablo

Subjects
Economics - Theoretical Economics
Abstract

The weak axiom of revealed preference (WARP) ensures that the revealed preference (i) is a preference relation (i.e., it is complete and transitive) and (ii) rationalizes the choices. However, when WARP fails, either one of these two properties is violated, but it is unclear which one it is. We provide an alternative characterization of WARP by showing that WARP is equivalent to the conjunction of two axioms each of which separately guarantees (i) and (ii).

Published
2023

10. Author Correction: Rps14 haploinsufficiency causes a block in erythroid differentiation mediated by S100A8 and S100A9

Author

Schneider, Rebekka K, Schenone, Monica, Ferreira, Monica Ventura, Kramann, Rafael, Joyce, Cailin E, Hartigan, Christina, Beier, Fabian, Brümmendorf, Tim H, Germing, Ulrich, Platzbecker, Uwe, Büsche, Guntram, Knüchel, Ruth, Chen, Michelle C, Waters, Christopher S, Chen, Edwin, Chu, Lisa P, Novina, Carl D, Lindsley, R Coleman, Carr, Steven A, and Ebert, Benjamin L

Published
2024
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11. COVID-19-associated serum and cerebrospinal fluid cytokines in post- versus para-infectious SARS-CoV-2-related Guillain–Barré syndrome

Author

Massa, Federico, Vigo, Tiziana, Bellucci, Margherita, Giunti, Debora, Emanuela, Maria Mobilia, Visigalli, Davide, Capodivento, Giovanna, Cerne, Denise, Assini, Andrea, Boni, Silvia, Rizzi, Domenica, Narciso, Eleonora, Grisanti, Giuseppe Stefano, Coco, Elena, Uccelli, Antonio, Schenone, Angelo, Franciotta, Diego, and Benedetti, Luana

Published
2024
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14. Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease

Author

Bellofatto, Marta, Gentile, Luca, Bertini, Alessandro, Tramacere, Irene, Manganelli, Fiore, Fabrizi, Gian Maria, Schenone, Angelo, Santoro, Lucio, Cavallaro, Tiziana, Grandis, Marina, Previtali, Stefano C., Scarlato, Marina, Allegri, Isabella, Padua, Luca, Pazzaglia, Costanza, Villani, Flavio, Cavalca, Eleonora, Saveri, Paola, Quattrone, Aldo, Valentino, Paola, Tozza, Stefano, Russo, Massimo, Mazzeo, Anna, Vita, Giuseppe, Piacentini, Sylvie, Didato, Giuseppe, Pisciotta, Chiara, and Pareyson, Davide

Published
2023
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15. Final Topology for Preference Spaces

Author

Schenone, Pablo

Subjects
Economics - Theoretical Economics
Abstract

We say a model is continuous in utilities (resp., preferences) if small perturbations of utility functions (resp., preferences) generate small changes in the model's outputs. While similar, these two questions are different. They are only equivalent when the following two sets are isomorphic: the set of continuous mappings from preferences to the model's outputs, and the set of continuous mappings from utilities to the model's outputs. In this paper, we study the topology for preference spaces defined by such an isomorphism. This study is practically significant, as continuity analysis is predominantly conducted through utility functions, rather than the underlying preference space. Our findings enable researchers to infer continuity in utility as indicative of continuity in underlying preferences.

Published
2020

22. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Author

Ng, Bobby G, Eklund, Erik A, Shiryaev, Sergey A, Dong, Yin Y, Abbott, Mary‐Alice, Asteggiano, Carla, Bamshad, Michael J, Barr, Eileen, Bernstein, Jonathan A, Chelakkadan, Shabeed, Christodoulou, John, Chung, Wendy K, Ciliberto, Michael A, Cousin, Janice, Gardiner, Fiona, Ghosh, Suman, Graf, William D, Grunewald, Stephanie, Hammond, Katherine, Hauser, Natalie S, Hoganson, George E, Houck, Kimberly M, Kohler, Jennefer N, Morava, Eva, Larson, Austin A, Liu, Pengfei, Madathil, Sujana, McCormack, Colleen, Meeks, Naomi JL, Miller, Rebecca, Monaghan, Kristin G, Nickerson, Deborah A, Palculict, Timothy Blake, Papazoglu, Gabriela Magali, Pletcher, Beth A, Scheffer, Ingrid E, Schenone, Andrea Beatriz, Schnur, Rhonda E, Si, Yue, Rowe, Leah J, Russi, Alvaro H Serrano, Russo, Rossana Sanchez, Thabet, Farouq, Tuite, Allysa, Villanueva, María Mercedes, Wang, Raymond Y, Webster, Richard I, Wilson, Dorcas, Zalan, Alice, Network, University of Washington Center for Mendelian Genomics Undiagnosed Diseases, Wolfe, Lynne A, Rosenfeld, Jill A, Rhodes, Lindsay, and Freeze, Hudson H

Subjects
Pediatric, Brain Disorders, Neurosciences, Neurodegenerative, Epilepsy, Biomarkers, Child, Preschool, Congenital Disorders of Glycosylation, Diet, Ketogenic, Female, Glycosylation, Humans, Infant, Male, Mutation, N-Acetylglucosaminyltransferases, Spasms, Infantile, Transferrin, congenital disorders of glycosylation, epilepsy, N-linked glycosylation, whole exome sequencing, Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics, Clinical Sciences, Genetics & Heredity
Abstract

Asparagine-linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X-linked uridine diphosphate (UDP)-N-acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide precursor and proper N-linked glycosylation. De novo variants in ALG13 underlie a form of early infantile epileptic encephalopathy known as EIEE36, but given its essential role in glycosylation, it is also considered a congenital disorder of glycosylation (CDG), ALG13-CDG. Twenty-four previously reported ALG13-CDG cases had de novo variants, but surprisingly, unlike most forms of CDG, ALG13-CDG did not show the anticipated glycosylation defects, typically detected by altered transferrin glycosylation. Structural homology modeling of two recurrent de novo variants, p.A81T and p.N107S, suggests both are likely to impact the function of ALG13. Using a corresponding ALG13-deficient yeast strain, we show that expressing yeast ALG13 with either of the highly conserved hotspot variants rescues the observed growth defect, but not its glycosylation abnormality. We present molecular and clinical data on 29 previously unreported individuals with de novo variants in ALG13. This more than doubles the number of known cases. A key finding is that a vast majority of the individuals presents with West syndrome, a feature shared with other CDG types. Among these, the initial epileptic spasms best responded to adrenocorticotropic hormone or prednisolone, while clobazam and felbamate showed promise for continued epilepsy treatment. A ketogenic diet seems to play an important role in the treatment of these individuals.

Published
2020

25. Sociodemographic and clinical factors associated with poor COVID-19 outcomes in patients with rheumatic diseases: data from the SAR-COVID Registry

Author

Isnardi, Carolina A., Roberts, Karen, Saurit, Verónica, Petkovic, Ingrid, Báez, Roberto M., Quintana, Rosana, Tissera, Yohana, Ornella, Sofía, D.Angelo Exeni, Maria Eugenia, Pisoni, Cecilia N., Castro Coello, Vanessa V., Berbotto, Guillermo, Haye Salinas, María J., Velozo, Edson, Reyes Torres, Álvaro A., Tanten, Romina, Zelaya, Marcos D., Gobbi, Carla, Alonso, Carla G., de los Ángeles Severina, María, Vivero, Florencia, Paula, Alba, Cogo, Adriana K., Alle, Gelsomina, Pera, Mariana, Nieto, Romina E., Cosatti, Micaela, Asnal, Cecilia, Pereira, Dora, Albiero, Juan A., Savio, Verónica G., Maldonado, Federico N., Gamba, María Julieta, Germán, Noelia F., Baños, Andrea, Gallino Yanzi, Josefina, Gálvez Elkin, María Soledad, Morbiducci, Julieta S., Martire, María Victoria, Maldonado Ficco, Hernán, Schmid, Maria Marcela, Villafañe Torres, Jaime A., de los Ángeles Correa, Maria, Medina, María Alejandra, Cusa, María Alejandra, Scafati, Julia, Agüero, Santiago E., Lloves Schenone, Nicolás M., Soriano, Enrique R., Graf, Cesar, Pons-Estel, Bernardo A., Gomez, Gimena, Landi, Margarita, De la Vega, María Celina, and Pons-Estel, Guillermo J.

Published
2023
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26. The PRESTO study: awareness of stroke symptoms and time from onset to intervention

Author

Gandoglia, Ilaria, Schirinzi, Erika, Hamedani, Mehrnaz, Reale, Nicoletta, Siri, Giacomo, Cecconi, Rosamaria, Gandolfo, Carlo, Balestrino, Maurizio, Di Poggio, Monica Bandettini, Bandini, Fabio, Filippi, Laura, Poeta, Maria Gabriella, Strada, Laura, Serrati, Carlo, Finocchi, Cinzia, Malfatto, Laura, Castellan, Lucio, Schenone, Angelo, and Del Sette, Massimo

Published
2023
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27. Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry

Author

Bellofatto, Marta, Bertini, Alessandro, Tramacere, Irene, Manganelli, Fiore, Fabrizi, Gian Maria, Schenone, Angelo, Santoro, Lucio, Cavallaro, Tiziana, Grandis, Marina, Previtali, Stefano C., Allegri, Isabella, Padua, Luca, Pazzaglia, Costanza, Calabrese, Daniela, Saveri, Paola, Quattrone, Aldo, Valentino, Paola, Tozza, Stefano, Gentile, Luca, Russo, Massimo, Mazzeo, Anna, Vita, Giuseppe, Piacentini, Sylvie, Pisciotta, Chiara, and Pareyson, Davide

Published
2023
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32. Causality: a decision theoretic approach

Author

Schenone, Pablo

Subjects
Economics - Theoretical Economics
Abstract

We propose a decision theoretic framework that allows a decision maker to express its causal model of the world. We extend the model of Savage (1972) by allowing the decision maker (DM) to choose policy interventions prior to choosing acts over the nonintervened variables. We define what it means for the DM's choices to express the DM's belief that the relation between some variables is causal. We provide axioms characterizing when the DM's causal model, as expressed through the DM's choices, is represented as a directed acyclic graph. A final axiom characterizes when the DM's causal model has a representation like the one in Pearl (1995). Consequently, under this additional axiom one can apply Pearl's results to identify the DM's causal model from the DM's probabilistic model.

Published
2018

33. Correction to: Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease

Author

Bellofatto, Marta, Gentile, Luca, Bertini, Alessandro, Tramacere, Irene, Manganelli, Fiore, Fabrizi, Gian Maria, Schenone, Angelo, Santoro, Lucio, Cavallaro, Tiziana, Grandis, Marina, Previtali, Stefano C., Scarlato, Marina, Allegri, Isabella, Padua, Luca, Pazzaglia, Costanza, Villani, Flavio, Cavalca, Eleonora, Saveri, Paola, Quattrone, Aldo, Valentino, Paola, Tozza, Stefano, Russo, Massimo, Mazzeo, Anna, Vita, Giuseppe, Piacentini, Sylvie, Didato, Giuseppe, Pisciotta, Chiara, and Pareyson, Davide

Published
2023
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35. Intensive chemotherapy followed by autologous stem cell transplantation in primary central nervous system lymphomas (PCNSLs). Therapeutic outcomes in real life—experience of the French Network

Author

Schenone, Laurence, Houillier, Caroline, Tanguy, Marie Laure, Choquet, Sylvain, Agbetiafa, Kossi, Ghesquières, Hervé, Damaj, Gandhi, Schmitt, Anna, Bouabdallah, Krimo, Ahle, Guido, Gressin, Remy, Cornillon, Jérôme, Houot, Roch, Marolleau, Jean-Pierre, Fornecker, Luc-Matthieu, Chinot, Olivier, Peyrade, Frédéric, Bouabdallah, Reda, Moluçon-Chabrot, Cécile, Gyan, Emmanuel, Chauchet, Adrien, Casasnovas, Olivier, Oberic, Lucie, Delwail, Vincent, Abraham, Julie, Roland, Virginie, Waultier-Rascalou, Agathe, Willems, Lise, Morschhauser, Franck, Fabbro, Michel, Ursu, Renata, Thieblemont, Catherine, Jardin, Fabrice, Tempescul, Adrian, Malaise, Denis, Touitou, Valérie, Nichelli, Lucia, Le Garff-Tavernier, Magali, Plessier, Aurélie, Bourget, Philippe, Bonmati, Caroline, Wantz-Mézières, Sophie, Giordan, Quentin, Dorvaux, Véronique, Charron, Cyril, Jabeur, Waliyde, Hoang-Xuan, Khê, Taillandier, Luc, and Soussain, Carole

Published
2022
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39. Opportunistic skeletal muscle metrics as prognostic tools in metastatic castration-resistant prostate cancer patients candidates to receive Radium-223

Author

Bauckneht, Matteo, Lai, Rita, D’Amico, Francesca, Miceli, Alberto, Donegani, Maria Isabella, Campi, Cristina, Schenone, Daniela, Raffa, Stefano, Chiola, Silvia, Lanfranchi, Francesco, Rebuzzi, Sara Elena, Zanardi, Elisa, Cremante, Malvina, Marini, Cecilia, Fornarini, Giuseppe, Morbelli, Silvia, Piana, Michele, and Sambuceti, Gianmario

Published
2022
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40. Simultaneous robotic partial nephrectomy for bilateral renal masses

Author

Gallo, Fabrizio, Sforza, Simone, Luciani, Lorenzo, Mattevi, Daniele, Barzaghi, Paolo, Mari, Andrea, Di Maida, Fabrizio, Antonelli, Alessandro, Cindolo, Luca, Galfano, Antonio, Pini, Giovannalberto, Mantica, Guglielmo, Schenone, Maurizio, Schips, Luigi, Annino, Filippo, Terrone, Carlo, Bocciardi, Aldo Massimo, Gaboardi, Franco, and Minervini, Andrea

Published
2022
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41. Tetracyclines Modify Translation by Targeting Key Human rRNA Substructures

Author

Mortison, Jonathan D, Schenone, Monica, Myers, Jacob A, Zhang, Ziyang, Chen, Linfeng, Ciarlo, Christie, Comer, Eamon, Natchiar, S Kundhavai, Carr, Steven A, Klaholz, Bruno P, and Myers, Andrew G

Subjects
Biochemistry and Cell Biology, Biological Sciences, Cancer, Biotechnology, Generic health relevance, Cell Line, Tumor, Dose-Response Relationship, Drug, Humans, Models, Molecular, Molecular Structure, Protein Biosynthesis, RNA, Ribosomal, Ribosomes, Structure-Activity Relationship, Tetracyclines, RNA-seq, chemoproteomics, diazirine, photocrosslinking, ribosome, target identification, tetracyclines, translation, Biochemistry and cell biology, Medicinal and biomolecular chemistry
Abstract

Apart from their antimicrobial properties, tetracyclines demonstrate clinically validated effects in the amelioration of pathological inflammation and human cancer. Delineation of the target(s) and mechanism(s) responsible for these effects, however, has remained elusive. Here, employing quantitative mass spectrometry-based proteomics, we identified human 80S ribosomes as targets of the tetracyclines Col-3 and doxycycline. We then developed in-cell click selective crosslinking with RNA sequence profiling (icCL-seq) to map binding sites for these tetracyclines on key human rRNA substructures at nucleotide resolution. Importantly, we found that structurally and phenotypically variant tetracycline analogs could chemically discriminate these rRNA binding sites. We also found that tetracyclines both subtly modify human ribosomal translation and selectively activate the cellular integrated stress response (ISR). Together, the data reveal that targeting of specific rRNA substructures, activation of the ISR, and inhibition of translation are correlated with the anti-proliferative properties of tetracyclines in human cancer cell lines.

Published
2018

42. Genome-scale analysis identifies paralog lethality as a vulnerability of chromosome 1p loss in cancer

Author

Viswanathan, Srinivas R, Nogueira, Marina F, Buss, Colin G, Krill-Burger, John M, Wawer, Mathias J, Malolepsza, Edyta, Berger, Ashton C, Choi, Peter S, Shih, Juliann, Taylor, Alison M, Tanenbaum, Benjamin, Pedamallu, Chandra Sekhar, Cherniack, Andrew D, Tamayo, Pablo, Strathdee, Craig A, Lage, Kasper, Carr, Steven A, Schenone, Monica, Bhatia, Sangeeta N, Vazquez, Francisca, Tsherniak, Aviad, Hahn, William C, and Meyerson, Matthew

Subjects
Biological Sciences, Genetics, Human Genome, Cancer Genomics, Cancer, 2.1 Biological and endogenous factors, Animals, Cell Line, Tumor, Cell Nucleus, Chromosomes, Human, Pair 1, Exons, Female, Gene Deletion, HEK293 Cells, Humans, Karyopherins, Mice, Mice, Nude, Neoplasms, Nuclear Proteins, RNA Splicing, RNA, Small Interfering, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Functional redundancy shared by paralog genes may afford protection against genetic perturbations, but it can also result in genetic vulnerabilities due to mutual interdependency1-5. Here, we surveyed genome-scale short hairpin RNA and CRISPR screening data on hundreds of cancer cell lines and identified MAGOH and MAGOHB, core members of the splicing-dependent exon junction complex, as top-ranked paralog dependencies6-8. MAGOHB is the top gene dependency in cells with hemizygous MAGOH deletion, a pervasive genetic event that frequently occurs due to chromosome 1p loss. Inhibition of MAGOHB in a MAGOH-deleted context compromises viability by globally perturbing alternative splicing and RNA surveillance. Dependency on IPO13, an importin-β receptor that mediates nuclear import of the MAGOH/B-Y14 heterodimer9, is highly correlated with dependency on both MAGOH and MAGOHB. Both MAGOHB and IPO13 represent dependencies in murine xenografts with hemizygous MAGOH deletion. Our results identify MAGOH and MAGOHB as reciprocal paralog dependencies across cancer types and suggest a rationale for targeting the MAGOHB-IPO13 axis in cancers with chromosome 1p deletion.

Published
2018

43. Prolonged distal motor latency of median nerve does not improve diagnostic accuracy for CIDP

Author

Spina, Emanuele, Doneddu, Pietro Emiliano, Liberatore, Giuseppe, Cocito, Dario, Fazio, Raffaella, Briani, Chiara, Filosto, Massimiliano, Benedetti, Luana, Antonini, Giovanni, Cosentino, Giuseppe, Jann, Stefano, Mazzeo, Anna, Cortese, Andrea, Marfia, Girolama Alessandra, Clerici, Angelo Maurizio, Siciliano, Gabriele, Carpo, Marinella, Luigetti, Marco, Lauria, Giuseppe, Rosso, Tiziana, Cavaletti, Guido, Peci, Erdita, Tronci, Stefano, Ruiz, Marta, Piccinelli, Stefano Cotti, Schenone, Angelo, Leonardi, Luca, Gentile, Luca, Piccolo, Laura, Mataluni, Giorgia, Santoro, Lucio, Nobile-Orazio, Eduardo, and Manganelli, Fiore

Published
2022
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44. The neurophysiological lesson from the Italian CIDP database

Author

Spina, Emanuele, Doneddu, Pietro Emiliano, Liberatore, Giuseppe, Cocito, Dario, Fazio, Raffaella, Briani, Chiara, Filosto, Massimiliano, Benedetti, Luana, Antonini, Giovanni, Cosentino, Giuseppe, Jann, Stefano, Mazzeo, Anna, Cortese, Andrea, Marfia, Girolama Alessandra, Clerici, Angelo Maurizio, Siciliano, Gabriele, Carpo, Marinella, Luigetti, Marco, Lauria, Giuseppe, Rosso, Tiziana, Cavaletti, Guido, Peci, Erdita, Tronci, Stefano, Ruiz, Marta, Piccinelli, Stefano Cotti, Schenone, Angelo, Leonardi, Luca, Gentile, Luca, Piccolo, Laura, Mataluni, Giorgia, Santoro, Lucio, Nobile-Orazio, Eduardo, and Manganelli, Fiore

Published
2022
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45. Chloride intracellular channel 1 activity is not required for glioblastoma development but its inhibition dictates glioma stem cell responsivity to novel biguanide derivatives

Author

Barbieri, Federica, Bosio, Alessia Graziana, Pattarozzi, Alessandra, Tonelli, Michele, Bajetto, Adriana, Verduci, Ivan, Cianci, Francesca, Cannavale, Gaetano, Palloni, Luca M. G., Francesconi, Valeria, Thellung, Stefano, Fiaschi, Pietro, Mazzetti, Samanta, Schenone, Silvia, Balboni, Beatrice, Girotto, Stefania, Malatesta, Paolo, Daga, Antonio, Zona, Gianluigi, Mazzanti, Michele, and Florio, Tullio

Published
2022
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46. Ultrasound Microvessel Imaging of the Human Placenta Demonstrates Altered Vessel Densities in Fetal Growth Restriction With Vascular and Immune Pathologies

Author

Lok, U‐Wai, Scott, Hannah M., Tang, Shanshan, Santos, Janelle, Gong, Ping, Huang, Chengwu, Pone, Karina A., Nienow, Michael K., Ruka, Krystal L., Breutzman, Emily N., Cheek‐Norgan, E. Heidi, Branda, Megan E., Ruano, Rodrigo, Quintin, Reade A., Schenone, Mauro H., Chen, Shigao, and Enninga, Elizabeth Ann L.

Abstract

Fetal growth restriction (FGR) is commonly associated with placental dysfunction, increasing perinatal morbidity and mortality. Visualizing placental vessels in utero would be advantageous for identifying functional FGR cause and determining proper management strategies. We aimed to utilize high‐sensitivity ultrasound microvessel imaging (HUMI) for quantifying placental vessel density (VD) in pregnancies diagnosed with FGR. This pilot case–control study enrolled subjects in the third trimester with a diagnosis of FGR (n = 40) and gestational age‐matched controls with normal fetal growth (n = 20) at a 2:1 ratio, respectively. The Verasonics Vantage ultrasound system was used to perform HUMI on each participant at one timepoint. Scanning involved randomized singular value decomposition‐based clutter filtering to identify the villous tree, followed by step‐by‐step scanning to acquire 3‐dimensional‐like data. Mean VD was calculated from three ultrasound measurements per subject. Additional clinical and pathology data were also collected and compared. Sixteen participants were utilized to establish the scanning protocol and 2 met exclusion criteria at delivery. Thus, VD was successfully measured on 42 pregnancies scanned at 35 weeks 5 days on average. In FGR (n = 24), placental VD was significantly reduced compared to controls (P< .01). VD measures were as good at predicting FGR as systolic/diastolic (S/D) ratios (area under the curve 0.86 versus 0.80). In a smaller cohort, VD in placentas with a diagnosis of inflammatory villitis (n = 10) by histology showed an increase in VD compared to those without inflammation (P= .01). Low VD was correlated with increased S/D ratios (P= .03). HUMI is useful for identifying altered placental vascularization in utero for FGR. VD may be a valuable indicator for placental health and could lead to improved risk stratification methods considering underlying biology.

Published
2025
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47. AI-Enabled Internet of Medical Things: Architectural Framework and Case Studies

Author

Bisio, Igor, Fallani, Caterina, Garibotto, Chiara, Haleem, Halar, Lavagetto, Fabio, Hamedani, Mehrnaz, Schenone, Angelo, Sciarrone, Andrea, and Zerbino, Matteo

Abstract

The integration of Artificial Intelligence (AI) with the Internet of Medical Things (IoMT) has revolutionized healthcare by enhancing diagnostic accuracy, treatment efficiency, and patient monitoring capabilities. This article explores the global architecture of AI-enabled IoMT platforms, emphasizing their foundational frameworks and operational dynamics. Representative case studies across various medical domains illustrate the practical applications and benefits of these platforms in real-world scenarios. Results from extensive testing and validation of these use cases underscore their efficacy and reliability in clinical settings, paving the way for more sophisticated and effective solutions. Furthermore, the article discusses prevalent challenges that impact the widespread adoption of AI-driven IoMT systems. Insights gleaned from this comprehensive analysis provide valuable guidance for researchers, healthcare practitioners, and policymakers navigating the evolving landscape of AI in medical technology.

Published
2025
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48. 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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49. Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

Author

Rusu, Victor, Hoch, Eitan, Mercader, Josep M, Tenen, Danielle E, Gymrek, Melissa, Hartigan, Christina R, DeRan, Michael, von Grotthuss, Marcin, Fontanillas, Pierre, Spooner, Alexandra, Guzman, Gaelen, Deik, Amy A, Pierce, Kerry A, Dennis, Courtney, Clish, Clary B, Carr, Steven A, Wagner, Bridget K, Schenone, Monica, Ng, Maggie CY, Chen, Brian H, Consortium, MEDIA, Shriner, Daniel, Li, Jiang, Chen, Wei-Min, Guo, Xiuqing, Liu, Jiankang, Bielinski, Suzette J, Yanek, Lisa R, Nalls, Michael A, Comeau, Mary E, Rasmussen-Torvik, Laura J, Jensen, Richard A, Evans, Daniel S, Sun, Yan V, An, Ping, Patel, Sanjay R, Lu, Yingchang, Long, Jirong, Armstrong, Loren L, Wagenknecht, Lynne, Yang, Lingyao, Snively, Beverly M, Palmer, Nicholette D, Mudgal, Poorva, Langefeld, Carl D, Keene, Keith L, Freedman, Barry I, Mychaleckyj, Josyf C, Nayak, Uma, Raffel, Leslie J, Goodarzi, Mark O, Chen, Y-D Ida, Taylor, Herman A, Correa, Adolfo, Sims, Mario, Couper, David, Pankow, James S, Boerwinkle, Eric, Adeyemo, Adebowale, Doumatey, Ayo, Chen, Guanjie, Mathias, Rasika A, Vaidya, Dhananjay, Singleton, Andrew B, Zonderman, Alan B, Igo, Robert P, Sedor, John R, Consortium, the FIND, Kabagambe, Edmond K, Siscovick, David S, McKnight, Barbara, Rice, Kenneth, Liu, Yongmei, Hsueh, Wen-Chi, Zhao, Wei, Bielak, Lawrence F, Kraja, Aldi, Province, Michael A, Bottinger, Erwin P, Gottesman, Omri, Cai, Qiuyin, Zheng, Wei, Blot, William J, Lowe, William L, Pacheco, Jennifer A, Crawford, Dana C, Consortium, the eMERGE, Consortium, the DIAGRAM, Grundberg, Elin, Consortium, the MuTHER, Rich, Stephen S, Hayes, M Geoffrey, Shu, Xiao-Ou, Loos, Ruth JF, Borecki, Ingrid B, Peyser, Patricia A, Cummings, Steven R, and Psaty, Bruce M

Subjects
Biological Sciences, Genetics, Clinical Research, Diabetes, Digestive Diseases, Liver Disease, Aetiology, 2.1 Biological and endogenous factors, Metabolic and endocrine, Basigin, Cell Membrane, Chromosomes, Human, Pair 17, Diabetes Mellitus, Type 2, Gene Knockdown Techniques, Haplotypes, Hepatocytes, Heterozygote, Histone Code, Humans, Liver, Models, Molecular, Monocarboxylic Acid Transporters, MEDIA Consortium, SIGMA T2D Consortium, MCT11, SLC16A11, disease mechanism, fatty acid metabolism, genetics, lipid metabolism, monocarboxylates, precision medicine, solute carrier, type 2 diabetes, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences
Abstract

Type 2 diabetes (T2D) affects Latinos at twice the rate seen in populations of European descent. We recently identified a risk haplotype spanning SLC16A11 that explains ∼20% of the increased T2D prevalence in Mexico. Here, through genetic fine-mapping, we define a set of tightly linked variants likely to contain the causal allele(s). We show that variants on the T2D-associated haplotype have two distinct effects: (1) decreasing SLC16A11 expression in liver and (2) disrupting a key interaction with basigin, thereby reducing cell-surface localization. Both independent mechanisms reduce SLC16A11 function and suggest SLC16A11 is the causal gene at this locus. To gain insight into how SLC16A11 disruption impacts T2D risk, we demonstrate that SLC16A11 is a proton-coupled monocarboxylate transporter and that genetic perturbation of SLC16A11 induces changes in fatty acid and lipid metabolism that are associated with increased T2D risk. Our findings suggest that increasing SLC16A11 function could be therapeutically beneficial for T2D. VIDEO ABSTRACT.

Published
2017

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