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JOURNAL ARTICLE
Jon Salmanton-García, Francesco Marchesi, Francesca Farina, Barbora Weinbergerová, Federico Itri, Julio Dávila-Valls, Sonia Martín-Pérez, Andreas Glenthøj, Ditte Stampe Hersby, Maria Gomes da Silva, Raquel Nunes Rodrigues, Alberto López-García, Raúl Córdoba, Yavuz M Bilgin, Iker Falces-Romero, Shaimaa El-Ashwah, Ziad Emarah, Caroline Besson, Milena Kohn, Jaap Van Doesum, Emanuele Ammatuna, Monia Marchetti, Jorge Labrador, Giovanni Paolo Maria Zambrotta, Luisa Verga, Ozren Jaksic, Marcio Nucci, Klára Piukovics, Alba Cabirta-Touzón, Moraima Jiménez, Elena Arellano, Ildefonso Espigado, Ola Blennow, Anna Nordlander, Stef Meers, Jens van Praet, Tommaso Francesco Aiello, Carolina Garcia-Vidal, Nicola Fracchiolla, Mariarita Sciumè, Guldane Cengiz Seval, Pavel Žák, Caterina Buquicchio, Carlo Tascini, Stefanie K Gräfe, Martin Schönlein, Tatjana Adžić-Vukičević, Valentina Bonuomo, Chiara Cattaneo, Summiya Nizamuddin, Martin Čerňan, Gaëtan Plantefeve, Romane Prin, Tomas Szotkovski, Graham P Collins, Michelina Dargenio, Verena Petzer, Dominik Wolf, Natasha Čolović, Lucia Prezioso, Toni Valković, Francesco Passamonti, Gustavo-Adolfo Méndez, Uluhan Sili, Antonio Vena, Martina Bavastro, Alessandro Limongelli, Rafael F Duarte, Marie-Pierre Ledoux, Milche Cvetanoski, Zlate Stojanoski, Marina Machado, Josip Batinić, Gabriele Magliano, Monika M Biernat, Nikola Pantić, Christian Bjørn Poulsen, Annarosa Cuccaro, Maria Ilaria Del Principe, Austin Kulasekararaj, Irati Ormazabal-Vélez, Alessandro Busca, Fatih Demirkan, Marriyam Ijaz, Nikolai Klimko, Igor Stoma, Sofya Khostelidi, Noemí Fernández, Ali S Omrani, Rui Bergantim, Nick De Jonge, Guillemette Fouquet, Milan Navrátil, Ghaith Abu-Zeinah, Michail Samarkos, Johan Maertens, Cristina De Ramón, Anna Guidetti, Ferenc Magyari, Tomás José González-López, Tobias Lahmer, Olimpia Finizio, Natasha Ali, László Imre Pinczés, Esperanza Lavilla-Rubira, Alessandra Romano, Maria Merelli, Mario Delia, Maria Calbacho, Joseph Meletiadis, Darko Antić, José-Ángel Hernández-Rivas, Joyce Marques de Almeida, Murtadha Al-Khabori, Martin Hoenigl, Maria Chiara Tisi, Nina Khanna, Aleksandra Barać, Noha Eisa, Roberta Di Blasi, Raphaël Liévin, Carolina Miranda-Castillo, Nathan C Bahr, Sylvain Lamure, Mario Virgilio Papa, Ayel Yahya, Avinash Aujayeb, Jan Novák, Nurettin Erben, María Fernández-Galán, José-María Ribera-Santa Susana, Ikhwan Rinaldi, Rita Fazzi, Monica Piedimonte, Rémy Duléry, Yung Gonzaga, Andrés Soto-Silva, Giuseppe Sapienza, Alexandra Serris, Ľuboš Drgoňa, Ana Groh, Laura Serrano, Eleni Gavriilaki, Athanasios Tragiannidis, Juergen Prattes, Nicola Coppola, Vladimir Otašević, Miloš Mladenović, Mirjana Mitrović, Bojana Mišković, Pavel Jindra, Sofia Zompi, Maria Vittoria Sacchi, Carolin Krekeler, Maria Stefania Infante, Daniel García-Bordallo, Gökçe Melis Çolak, Jiří Mayer, Marietta Nygaard, Michaela Hanáková, Zdeněk Ráčil, Matteo Bonanni, Philipp Koehler, Laman Rahimli, Oliver A Cornely, Livio Pagano
BACKGROUND: The COVID-19 pandemic heightened risks for individuals with hematological malignancies due to compromised immune systems, leading to more severe outcomes and increased mortality. While interventions like vaccines, targeted antivirals, and monoclonal antibodies have been effective for the general population, their benefits for these patients may not be as pronounced. METHODS: The EPICOVIDEHA registry (National Clinical Trials Identifier, NCT04733729) gathers COVID-19 data from hematological malignancy patients since the pandemic's start worldwide...
May 2024: EClinicalMedicine
#2
JOURNAL ARTICLE
Léa Fléchon, Inès Arib, Ankit K Dutta, Lama Hasan Bou Issa, Romanos Sklavenitis-Pistofidis, Remi Tilmont, Chip Stewart, Romain Dubois, Stéphanie Poulain, Marie-Christine Copin, Sahir Javed, Morgane Nudel, Doriane Cavalieri, Guillaume Escure, Nicolas Gower, Paul Chauvet, Nicolas Gazeau, Cynthia Saade, Marietou Binta Thiam, Aïcha Ouelkite-Oumouchal, Silvia Gaggero, Émeline Cailliau, Sarah Faiz, Olivier Carpentier, Nicolas Duployez, Thierry B Idziorek, Laurent Mortier, Martin Figeac, Claude Preudhomme, Bruno Quesnel, Suman Mitra, Franck Morschhauser, Gad Getz, Irene M Ghobrial, Salomon Manier
Mycosis fungoides (MF) is the most prevalent primary cutaneous T-cell lymphoma, with an indolent or aggressive course and poor survival. The pathogenesis of MF remains unclear, and prognostic factors in the early stages are not well-established. Here, we characterized the most recurrent genomic alterations using whole-exome sequencing of 67 samples from 48 patients from Lille University Hospital (France), including 18 sequential samples drawn across stages of the malignancy. Genomic data were analyzed on the Broad Institute's Terra bioinformatics platform...
March 21, 2024: Blood Advances
#3
JOURNAL ARTICLE
Per A Andersson, Irina Vartanova, Daniel Västfjäll, Gustav Tinghög, Pontus Strimling, Junhui Wu, Isabela Hazin, Charity S Akotia, Alisher Aldashev, Giulia Andrighetto, Adote Anum, Gizem Arikan, Fatemeh Bagherian, Davide Barrera, Dana Basnight-Brown, Birzhan Batkeyev, Elizaveta Berezina, Marie Björnstjerna, Paweł Boski, Inna Bovina, Bui Thi Thu Huyen, Đorđe Čekrlija, Hoon-Seok Choi, Carlos C Contreras-Ibáñez, Rui Costa-Lopes, Mícheál de Barra, Piyanjali de Zoysa, Angela R Dorrough, Nikolay Dvoryanchikov, Jan B Engelmann, Hyun Euh, Xia Fang, Susann Fiedler, Olivia A Foster-Gimbel, Márta Fülöp, Ragna B Gardarsdottir, C M Hew D Gill, Andreas Glöckner, Sylvie Graf, Ani Grigoryan, Vladimir Gritskov, Katarzyna Growiec, Peter Halama, Andree Hartanto, Tim Hopthrow, Martina Hřebíčková, Dzintra Iliško, Hirotaka Imada, Hansika Kapoor, Kerry Kawakami, Narine Khachatryan, Natalia Kharchenko, Toko Kiyonari, Michal Kohút, Lisa M Leslie, Yang Li, Norman P Li, Zhuo Li, Kadi Liik, Angela T Maitner, Bernardo Manhique, Harry Manley, Imed Medhioub, Sari Mentser, Pegah Nejat, Orlando Nipassa, Ravit Nussinson, Nneoma G Onyedire, Ike E Onyishi, Penny Panagiotopoulou, Lorena R Perez-Floriano, Minna Persson, Anna-Maija Pirttilä-Backman, Marianna Pogosyan, Jana Raver, Ricardo Borges Rodrigues, Sara Romanò, Pedro P Romero, Inari Sakki, Alvaro San Martin, Sara Sherbaji, Hiroshi Shimizu, Brent Simpson, Erna Szabo, Kosuke Takemura, Maria Luisa Mendes Teixeira, Napoj Thanomkul, Habib Tiliouine, Giovanni A Travaglino, Yannis Tsirbas, Sita Widodo, Rizqy Zein, Lina Zirganou-Kazolea, Kimmo Eriksson
When someone violates a social norm, others may think that some sanction would be appropriate. We examine how the experience of emotions like anger and disgust relate to the judged appropriateness of sanctions, in a pre-registered analysis of data from a large-scale study in 56 societies. Across the world, we find that individuals who experience anger and disgust over a norm violation are more likely to endorse confrontation, ostracism and, to a smaller extent, gossip. Moreover, we find that the experience of anger is consistently the strongest predictor of judgments of confrontation, compared to other emotions...
March 7, 2024: Scientific Reports
#4
JOURNAL ARTICLE
Suvi T Vaara, Ary Serpa Neto, Rinaldo Bellomo, Neill K J Adhikari, Didier Dreyfuss, Martin Gallagher, Stephane Gaudry, Eric Hoste, Michael Joannidis, Ville Pettilä, Amanda Y Wang, Kianoush Kashani, Ron Wald, Sean M Bagshaw, Marlies Ostermann
OBJECTIVES: Among patients with severe acute kidney injury (AKI) admitted to the ICU in high-income countries, regional practice variations for fluid balance (FB) management, timing, and choice of renal replacement therapy (RRT) modality may be significant. DESIGN: Secondary post hoc analysis of the STandard vs. Accelerated initiation of Renal Replacement Therapy in Acute Kidney Injury (STARRT-AKI) trial (ClinicalTrials.gov number NCT02568722). SETTING: One hundred-fifty-three ICUs in 13 countries...
February 2024: Critical care explorations
#5
JOURNAL ARTICLE
Natalia Juliá-Palacios, Mireia Olivella, Mariya Sigatullina Bondarenko, Salvador Ibáñez-Micó, Beatriz Muñoz-Cabello, Olga Alonso-Luengo, Víctor Soto-Insuga, Deyanira García-Navas, Laura Cuesta-Herraiz, Patricia Andreo-Lillo, Sergio Aguilera-Albesa, Antonio Hedrera-Fernández, Elena González Alguacil, Rocío Sánchez-Carpintero, Fernando Martín Del Valle, Erika Jiménez González, Lourdes Cean Cabrera, Ines Medina-Rivera, Marta Perez-Ordoñez, Roser Colomé, Laura Lopez, María Engracia Cazorla, Montserrat Fornaguera, Aida Ormazabal, Itziar Alonso-Colmenero, Katia Sofía Illescas, Sol Balsells-Mejía, Rosanna Mari-Vico, Maria Duffo Viñas, Gerarda Cappuccio, Gaetano Terrone, Roberta Romano, Filippo Manti, Mario Mastrangelo, Chiara Alfonsi, Bruna de Siqueira Barros, Mathilde Nizon, Cathrine Elisabeth Gjerulfsen, Valeria L Muro, Daniela Karall, Fiona Zeiner, Silvia Masnada, Irene Peterlongo, Alfonso Oyarzábal, Ana Santos-Gómez, Xavier Altafaj, Ángeles García-Cazorla
GRIN-related disorders are rare developmental encephalopathies with variable manifestations and limited therapeutic options. Here, we present the first non-randomized, open-label, single-arm trial (NCT04646447) designed to evaluate tolerability and efficacy of L-serine in children with GRIN genetic variants leading to loss-of-function. In this phase 2A trial, patients aged 2-18 years with GRIN loss-of-function pathogenic variants received L-serine for 52-weeks. Primary endpoints included safety and efficacy by measuring changes in the Vineland Adaptive Behavior Scales, Bayley Scales, age-appropriate Wechsler Scales, Gross Motor Function-88, Sleep Disturbance Scale for Children, Pediatric Quality of Life, Child Behavior Checklist and the Caregiver-Teacher Report Form following 12 months treatment...
February 21, 2024: Brain
#6
JOURNAL ARTICLE
Jason Abbott, Mauricio Abrao, Moamar Al-Jefout, Mohamed Bedaiwy, Giuseppe Benagiano, Katherine A Burns, Michel Canis, Francisco Carmona, Charles Chapron, Hilary O D Critchley, Dominique de Ziegler, Tommaso Falcone, Asgerally S Fazleaba, Simone Ferrero, Juan A Garcia-Velasco, Caroline Gargett, ErinGreaves, Linda G Griffith, Sun-Wei Guo, Marwan Habiba, Tasuku Harada, Mary Louise Hull, Neil P Johnson, Yuval Kaufman, Keith B Issacson, Khaleque N Khan, Mee-Ran Kim, Philippe A Koninckx, Bruce A Lessey, Dan Martin, Sachiko Matsuzaki, Gita Mishra, Yutaka Osuga, Felice Petraglia, Alexander Popov, Horace Roman, Andrea Romano, Philippa Saunders, Tamer Seckin, Edgardo Somigliana, Hugh S Taylor, Robert N Taylor, Paolo Vercellini, Paola Vigano
No abstract text is available yet for this article.
February 14, 2024: Journal of Minimally Invasive Gynecology
#7
JOURNAL ARTICLE
Denise Romano, Rosemary Collier, Thomas Komor, Lori-Marie Sprague
BACKGROUND: Integrating interprofessional concepts and competencies in the classroom teaches students to perform successfully in complex interprofessional care environments. There is little information regarding the effects of interprofessional collaboration in education utilizing faculty and students from other disciplines. METHOD: Satisfaction and Self-Confidence in Learning Survey (SCLS) scores and written responses were collected from 31 nursing students to explore nursing students' perceptions of an interprofessional collaboration in teaching between nursing and physical therapist (PT) educators...
February 14, 2024: Journal of Nursing Education
#8
JOURNAL ARTICLE
Giovanni Di Lorenzo, Giuseppe Mirenda, Roberta Marie Gentile, Chiara Dal Pozzolo, De Santo Davide, Federico Romano, Giuseppe Ricci
OBJECTIVE: Demonstrate the usefulness of using indocyanine green after laparoscopic ovarian detorsion to save the ovary. DESIGN: A step-by-step video demonstration of a surgical technique. SETTING: Ovarian torsion is one of the most common gynecological emergencies, mainly affecting patients younger than 20 years of age [1], and causes 2% to 7% of acute abdomens [2]. It is not advisable to routinely perform ovariectomy even with a necrotic ovary appearance [1]...
January 18, 2024: Journal of Minimally Invasive Gynecology
#9
JOURNAL ARTICLE
Thu N A Doan, James M Cowley, Aaron L Phillips, Jessica F Briffa, Shalem Y Leemaqz, Rachel A Burton, Tania Romano, Mary E Wlodek, Tina Bianco-Miotto
Altered epigenetic mechanisms have been previously reported in growth restricted offspring whose mothers experienced environmental insults during pregnancy in both human and rodent studies. We previously reported changes in the expression of the DNA methyltransferase Dnmt3a and the imprinted genes Cdkn1c (Cyclin-dependent kinase inhibitor 1C) and Kcnq1 (Potassium voltage-gated channel subfamily Q member 1) in the kidney tissue of growth restricted rats whose mothers had uteroplacental insufficiency induced on day 18 of gestation, at both embryonic day 20 (E20) and postnatal day 1 (PN1)...
December 2024: Epigenetics: Official Journal of the DNA Methylation Society
#10
JOURNAL ARTICLE
Romain David, Arina Rybina, Jean-Marie Burel, Jean-Karim Heriche, Pauline Audergon, Jan-Willem Boiten, Frederik Coppens, Sara Crockett, Katrina Exter, Sven Fahrner, Maddalena Fratelli, Carole Goble, Philipp Gormanns, Tobias Grantner, Björn Grüning, Kim Tamara Gurwitz, John M Hancock, Henriette Harmse, Petr Holub, Nick Juty, Geoffrey Karnbach, Emma Karoune, Antje Keppler, Jessica Klemeier, Carla Lancelotti, Jean-Luc Legras, Allyson L Lister, Dario Livio Longo, Rebecca Ludwig, Bénédicte Madon, Marzia Massimi, Vera Matser, Rafaele Matteoni, Michaela Th Mayrhofer, Christian Ohmann, Maria Panagiotopoulou, Helen Parkinson, Isabelle Perseil, Claudia Pfander, Roland Pieruschka, Michael Raess, Andreas Rauber, Audrey S Richard, Paolo Romano, Antonio Rosato, Alex Sánchez-Pla, Susanna-Assunta Sansone, Ugis Sarkans, Beatriz Serrano-Solano, Jing Tang, Ziaurrehman Tanoli, Jonathan Tedds, Harald Wagener, Martin Weise, Hans V Westerhoff, Rudolf Wittner, Jonathan Ewbank, Niklas Blomberg, Philip Gribbon
The main goals and challenges for the life science communities in the Open Science framework are to increase reuse and sustainability of data resources, software tools, and workflows, especially in large-scale data-driven research and computational analyses. Here, we present key findings, procedures, effective measures and recommendations for generating and establishing sustainable life science resources based on the collaborative, cross-disciplinary work done within the EOSC-Life (European Open Science Cloud for Life Sciences) consortium...
November 15, 2023: EMBO Journal
#11
JOURNAL ARTICLE
Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Daniëlle Gm Bosch, Gijs van Haaften, Leslie Granger, Andrea K Petersen, Luis A Pérez-Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hancarova, Sarka Bendova, Martin Schwarz, Radka Kremlikova Pourova, Zdenek Sedlacek, Beth A Keena, Michael E March, Cuiping Hou, Nora O'Connor, Elizabeth J Bhoj, Margaret H Harr, Gabrielle Lemire, Kym M Boycott, Meghan Towne, Megan Li, Mark Tarnopolsky, Lauren Brady, Michael J Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina Cooper, Timothy J Maarup, Melissa Byler, Robert Roger Lebel, Tugce B Balci, Raymond Louie, Michael Lyons, Jessica Douglas, Catherine Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M Maas, Mahdi M Motazacker, Julian A Martinez-Agosto, Ahna M Rabani, Elizabeth M McCormick, Marni J Falk, Sarah M Ruggiero, Ingo Helbig, Rikke S Møller, Lino Tessarollo, Francesco Tomassoni Ardori, Mary Ellen Palko, Tzung-Chien Hsieh, Peter M Krawitz, Mythily Ganapathi, Bruce D Gelb, Vaidehi Jobanputra, Ashley Wilson, John Greally, Sébastien Jacquemont, Khadijé Jizi, Ange-Line Bruel, Chloé Quelin, Vinod K Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna Ce Hurst, Michelle L Thompson, Ryan Schmidt, Linda Randolph, Rebecca C Spillmann, Vandana Shashi, Edward J Higginbotham, Dawn Cordeiro, Amanda Carnevale, Gregory Costain, Tayyaba Khan, Benoît Funalot, Frederic Tran Mau-Them, Luis Fernandez Garcia Moya, Sixto García-Miñaúr, Matthew Osmond, Lauren Chad, Nada Quercia, Diana Carrasco, Chumei Li, Amarilis Sanchez-Valle, Meghan Kelley, Mathilde Nizon, Brynjar O Jensson, Patrick Sulem, Kari Stefansson, Svetlana Gorokhova, Tiffany Busa, Marlène Rio, Hamza Hadj Habdallah, Marion Lesieur-Sebellin, Jeanne Amiel, Véronique Pingault, Sandra Mercier, Marie Vincent, Christophe Philippe, Clemence Fatus-Fauconnier, Kathryn Friend, Rebecca K Halligan, Sunita Biswas, Jane Rosser, Cheryl Shoubridge, Mark Corbett, Christopher Barnett, Jozef Gecz, Kathleen Leppig, Anne Slavotinek, Carlo Marcelis, Rolph Pfundt, Bert Ba de Vries, Marjon A van Slegtenhorst, Alice S Brooks, Benjamin Cogne, Thomas Rambaud, Zeynep Tümer, Elaine H Zackai, Naiara Akizu, Yuanquan Song, Hakon Hakonarson
Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2 and PRPF19, encoding spliceosome subunits in neurodevelopmental disorders (NDDs), by identifying 46 unrelated individuals with 23 de novo U2AF2 missense variants (including 7 recurrent variants in 30 individuals) and 6 individuals with de novo PRPF19 variants. Eight U2AF2 variants dysregulated splicing of a model substrate...
January 2, 2024: Journal of Clinical Investigation
#12
JOURNAL ARTICLE
Celeste J Romano, Sandra M Magallon, Clinton Hall, Anna T Bukowinski, Gia R Gumbs, Ava Marie S Conlin
BACKGROUND: The Department of Defense Birth and Infant Health Research program is dedicated to birth defects research and surveillance among military families. Here, we assess and refine the validity of International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes for selected genitourinary birth defects in the Military Health System (MHS). We additionally outline methods for the calculation of positive predictive value (PPV) and negative predictive value (NPV), sensitivity, and specificity using a stratified sampling design...
November 7, 2023: Birth Defects Research
#13
Angelo Romano, Simona Carrella, Sara Rezza, Yacine Nia, Jacques Antoine Hennekinne, Daniela Manila Bianchi, Francesca Martucci, Fabio Zuccon, Margherita Gulino, Carmela Di Mari, Teresa Zaccaria, Lucia Decastelli
Staphylococcal food poisoning results from the consumption of food contaminated by staphylococcal enterotoxins. In July 2022, the Turin local health board was notified of a suspected foodborne outbreak involving six children who had consumed döner kebab purchased from a takeaway restaurant. The symptoms (vomiting and nausea) were observed 2-3 h later. A microbiological analysis of the food samples revealed high levels (1.5 × 107 CFU/g) of coagulase-positive staphylococci (CPS). The immunoassay detected a contamination with staphylococcal enterotoxins type B (SEB)...
September 6, 2023: Pathogens
#14
JOURNAL ARTICLE
Vittorio Del Fabro, Mary Ann Di Giorgio, Valerio Leotta, Andrea Duminuco, Claudia Bellofiore, Uros Markovic, Alessandra Romano, Anna Bulla, Angelo Curto Pelle, Federica Elia, Francesco Di Raimondo, Concetta Conticello
Based on the results obtained in clinical trials, the use of the combination of lenalidomide and dexamethasone (Len/Dex) has become a potential therapeutic choice for newly diagnosed multiple myeloma (NDMM) ineligible for autologous stem cell transplantation. This study evaluated 89 frail NDMM patients treated with first-line oral association. At the last follow-up, 34 out of 89 patients (38.2%) were alive, and 22 were still in treatment with Len/Dex. Among 73 evaluable patients who received at least two cycles, the overall response rate was 71% (N = 52)...
August 9, 2023: Cancers
#15
JOURNAL ARTICLE
Andrew A Brown, Juan J Fernandez-Tajes, Mun-Gwan Hong, Caroline A Brorsson, Robert W Koivula, David Davtian, Théo Dupuis, Ambra Sartori, Theodora-Dafni Michalettou, Ian M Forgie, Jonathan Adam, Kristine H Allin, Robert Caiazzo, Henna Cederberg, Federico De Masi, Petra J M Elders, Giuseppe N Giordano, Mark Haid, Torben Hansen, Tue H Hansen, Andrew T Hattersley, Alison J Heggie, Cédric Howald, Angus G Jones, Tarja Kokkola, Markku Laakso, Anubha Mahajan, Andrea Mari, Timothy J McDonald, Donna McEvoy, Miranda Mourby, Petra B Musholt, Birgitte Nilsson, Francois Pattou, Deborah Penet, Violeta Raverdy, Martin Ridderstråle, Luciana Romano, Femke Rutters, Sapna Sharma, Harriet Teare, Leen 't Hart, Konstantinos D Tsirigos, Jagadish Vangipurapu, Henrik Vestergaard, Søren Brunak, Paul W Franks, Gary Frost, Harald Grallert, Bernd Jablonka, Mark I McCarthy, Imre Pavo, Oluf Pedersen, Hartmut Ruetten, Mark Walker, Jerzy Adamski, Jochen M Schwenk, Ewan R Pearson, Emmanouil T Dermitzakis, Ana Viñuela
We evaluate the shared genetic regulation of mRNA molecules, proteins and metabolites derived from whole blood from 3029 human donors. We find abundant allelic heterogeneity, where multiple variants regulate a particular molecular phenotype, and pleiotropy, where a single variant associates with multiple molecular phenotypes over multiple genomic regions. The highest proportion of share genetic regulation is detected between gene expression and proteins (66.6%), with a further median shared genetic associations across 49 different tissues of 78...
August 21, 2023: Nature Communications
#16
JOURNAL ARTICLE
Mélissa Prat, Kimberley Coulson, Clément Blot, Godefroy Jacquemin, Mathilde Romano, Marie-Laure Renoud, Mohamad AlaEddine, Augustin Le Naour, Hélène Authier, Mouna Chirine Rahabi, Khaddouj Benmoussa, Marie Salon, Mélissa Parny, Jean-Pierre Delord, Gwenaël Ferron, Lise Lefèvre, Bettina Couderc, Agnès Coste
BACKGROUND: Ovarian adenocarcinoma (OVAD) frequently metastasizes to the peritoneal cavity and manifests by the formation of ascites, which constitutes a tumor-promoting microenvironment. In the peritoneal cavity, two developmentally, phenotypically and functionally distinct macrophage subsets, immunocompetent large peritoneal macrophages (LPM) and immunosuppressive small peritoneal macrophages (SPM), coexist. Because peroxisome proliferator-activated receptor γ (PPARγ) is a critical factor participating in macrophage differentiation and cooperates with CCAAT/enhancer binding protein β (C/EBPβ), a transcription factor essential for SPM-to-LPM differentiation, PPARγ could be also involved in the regulation of SPM/LPM balance and could be a promising therapeutic target...
August 2023: Journal for Immunotherapy of Cancer
#17
REVIEW
Jean-Winoc Decousser, Sara Romano-Bertrand, Serge Aho, Raoul Baron, Yolene Carre, Pierre Cassier, Cédric Dananche, Florence Depaix-Champagnac, Sandra Fournier, Julie Racaud, Anne-Marie Rogue, Corinne Tamames, Olivia Keita-Perse, Pierre Parneix, Thierry Lavigne
AIM: In the context of the recent re-emergence of mpox (MPXV, formerly monkeypox virus) worldwide, the French Society for Hospital Hygiene (SF2H) performed a literature review of the transmission paths and proposed specific recommendations for healthcare workers (HCWs) caring for patients with suspected or confirmed MPXV. FINDINGS: In developed countries, the risk of contamination among HCWs in healthcare facilities seemed to be very low, limited to contamination through needle stick injuries...
August 8, 2023: Journal of Hospital Infection
#18
JOURNAL ARTICLE
Paola Pontecorvi, Simona Ceccarelli, Fabrizio Cece, Simona Camero, Lavinia Vittoria Lotti, Elena Niccolai, Giulia Nannini, Giulia Gerini, Eleni Anastasiadou, Elena Sofia Scialis, Enrico Romano, Mary Anna Venneri, Amedeo Amedei, Antonio Angeloni, Francesca Megiorni, Cinzia Marchese
The global rise of single-use throw-away plastic products has elicited a massive increase in the nano/microplastics (N/MPLs) exposure burden in humans. Recently, it has been demonstrated that disposable period products may release N/MPLs with usage, which represents a potential threat to women's health which has not been scientifically addressed yet. By using polyethyl ene (PE) particles (200 nm to 9 μm), we showed that acute exposure to a high concentration of N/MPLs induced cell toxicity in vaginal keratinocytes after effective cellular uptake, as viability and apoptosis data suggest, along with transmission electron microscopy (TEM) observations...
July 12, 2023: International Journal of Molecular Sciences
#19
JOURNAL ARTICLE
Einsley-Marie Janowski, Kara Romano, Susan Gehr, Emily Wood, Matt Mistro, Sarah Scarboro, David Schlesinger
The physics curriculum is a source of anxiety both for medical students considering radiation oncology (RO) as a possible career and for current residents facing the physics boards. To improve the orientation process for residents and medical students, we created a physics boot camp using clinically relevant patient vignettes to teach physics fundamentals. The initial boot camp was a week-long program of 1.5 to 2 hours daily, with each day consisting of a didactic session and hands-on laboratory. Boot camp topics covered included physics fundamentals, electron treatments, photon treatments, brachytherapy, and urgent clinical setups...
July 25, 2023: Practical Radiation Oncology
#20
JOURNAL ARTICLE
Maria Pia Amato, Roberto Bergamaschi, Diego Centonze, Massimiliano Mirabella, Girolama Alessandra Marfia, Rocco Totaro, Giacomo Lus, Vincenzo Brescia Morra, Umberto Aguglia, Cristoforo Comi, Paola Cavalla, Mauro Zaffaroni, Marco Rovaris, Luigi Maria Grimaldi, Stefania Leoni, Simona Malucchi, Eleonora Baldi, Marcello Romano, Mario Falcini, Paola Perini, Maurizio Assetta, Emilio Portaccio, Sergio Sommacal, Nunzio Olivieri, Franco Parodi, Daniele Santo Todaro, Nicoletta Grassivaro, Alberto Farina, Margaret Mary Mondino, Massimo Filippi, Maria Trojano
BACKGROUND: Cognitive impairment (CI) is a prevalent and debilitating manifestation of multiple sclerosis (MS); however, it is not included in the widely used concept of No Evidence of Disease Activity (NEDA-3). We expanded the NEDA-3 concept to NEDA-3 + by encompassing CI assessed through the Symbol Digit Modality Test (SDMT) and evaluated the effect of teriflunomide on NEDA3 + in patients treated in a real-world setting. The value of NEDA-3 + in predicting disability progression was also assessed...
July 5, 2023: Journal of Neurology
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