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2. Whole genome‐wide sequence analysis of long‐lived families (Long‐Life Family Study) identifies MTUS2 gene associated with late‐onset Alzheimer's disease

Author

Xicota, Laura, Cosentino, Stephanie, Vardarajan, Badri, Mayeux, Richard, Perls, Thomas T, Andersen, Stacy L, Zmuda, Joseph M, Thyagarajan, Bharat, Yashin, Anatoli, Wojczynski, Mary K, Krinsky‐McHale, Sharon, Handen, Benjamin L, Christian, Bradley T, Head, Elizabeth, Mapstone, Mark E, Schupf, Nicole, Lee, Joseph H, Barral, Sandra, Study, the Long‐Life Family, Abner, Erin, Adams, Perrie M, Aguirre, Alyssa, Albert, Marilyn S, Albin, Roger L, Allen, Mariet, Alvarez, Lisa, Andrews, Howard, Apostolova, Liana G, Arnold, Steven E, Asthana, Sanjay, Atwood, Craig S, Ayres, Gayle, Barber, Robert C, Barnes, Lisa L, Bartlett, Jackie, Beach, Thomas G, Becker, James T, Beecham, Gary W, Benchek, Penelope, Bennett, David A, Bertelson, John, Biber, Sarah A, Bird, Thomas D, Blacker, Deborah, Boeve, Bradley F, Bowen, James D, Boxer, Adam, Brewer, James B, Burke, James R, Burns, Jeffrey M, Bush, William S, Buxbaum, Joseph D, Byrd, Goldie, Cantwell, Laura B, Cao, Chuanhai, Carlsson, Cynthia M, Carrasquillo, Minerva M, Chan, Kwun C, Chasse, Scott, Chen, Yen‐Chi, Chesselet, Marie‐Francoise, Chin, Nathaniel A, Chui, Helena C, Chung, Jaeyoon, Craft, Suzanne, Crane, Paul K, Cranney, Marissa, Cruchaga, Carlos, Cuccaro, Michael L, Culhane, Jessica, Cullum, C Munro, Darby, Eveleen, Davis, Barbara, De Jager, Philip L, DeCarli, Charles, DeToledo, John C, Dickson, Dennis W, Dobbins, Nic, Duara, Ranjan, Ertekin‐Taner, Nilufer, Evans, Denis A, Faber, Kelley M, Fairchild, Thomas J, Fallin, Daniele, Fallon, Kenneth B, Fardo, David W, Farlow, Martin R, Farrell, John, Farrer, Lindsay A, Fernandez‐Hernandez, Victoria, Foroud, Tatiana M, Frosch, Matthew P, Galasko, Douglas R, Gamboa, Adriana, Gauthreaux, Kathryn M, Gefen, Tamar, Geschwind, Daniel H, Ghetti, Bernardino, and Gilbert, John R

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Acquired Cognitive Impairment, Neurodegenerative, Brain Disorders, Dementia, Alzheimer's Disease, Human Genome, Biotechnology, Aging, Genetics, 2.1 Biological and endogenous factors, Aetiology, Neurological, Humans, Alzheimer Disease, Amyloid beta-Peptides, Genetic Predisposition to Disease, Genome-Wide Association Study, Microtubule-Associated Proteins, Polymorphism, Single Nucleotide, Sequence Analysis, genetic risk, late-onset Alzheimer's disease, microtubule protein, MTUS2 gene, whole genome sequence, Long‐Life Family Study, Alzheimer's Disease Genetic Consortium, Alzheimer's Biomarkers Consortium‐Down Syndrome, late‐onset Alzheimer's disease, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionLate-onset Alzheimer's disease (LOAD) has a strong genetic component. Participants in Long-Life Family Study (LLFS) exhibit delayed onset of dementia, offering a unique opportunity to investigate LOAD genetics.MethodsWe conducted a whole genome sequence analysis of 3475 LLFS members. Genetic associations were examined in six independent studies (N = 14,260) with a wide range of LOAD risk. Association analysis in a sub-sample of the LLFS cohort (N = 1739) evaluated the association of LOAD variants with beta amyloid (Aβ) levels.ResultsWe identified several single nucleotide polymorphisms (SNPs) in tight linkage disequilibrium within the MTUS2 gene associated with LOAD (rs73154407, p = 7.6 × 10-9). Association of MTUS2 variants with LOAD was observed in the five independent studies and was significantly stronger within high levels of Aβ42/40 ratio compared to lower amyloid.DiscussionMTUS2 encodes a microtubule associated protein implicated in the development and function of the nervous system, making it a plausible candidate to investigate LOAD biology.HighlightsLong-Life Family Study (LLFS) families may harbor late onset Alzheimer's dementia (LOAD) variants. LLFS whole genome sequence analysis identified MTUS2 gene variants associated with LOAD. The observed LLFS variants generalized to cohorts with wide range of LOAD risk. The association of MTUS2 with LOAD was stronger within high levels of beta amyloid. Our results provide evidence for MTUS2 gene as a novel LOAD candidate locus.

Published
2024

6. Evaluation of a trauma-informed care (TIC) training program across community health centers in Texas: a qualitative study

Author

Jihye Choi, Efrat K. Gabay, Aimee Rachel, Aniela Brown, Roxana Cruz, Qiheng Yan, and Paula M. Cuccaro

Subjects
Trauma-informed care, Training, Implementation, Health centers, Staff wellness, Public aspects of medicine, RA1-1270
Abstract

Abstract Background In April 2019, Texas Association of Community Health Centers launched the Trauma-Informed Care (TIC) program in community health centers across Texas. This initiative aimed to transform organizational culture for consistent delivery of TIC by providing training and coaching opportunities for Trainers and Champions in each health center. This study is an interim qualitative evaluation to gain participants’ insights into their experiences of and perceptions about TIC training as part of the TIC initiative. Methods We conducted semi-structured key informant interviews via Zoom with Trainers across four cohorts of participating health centers between February 2020 and April 2023. We used rapid assessment procedures to conduct analysis in tandem with data collection given the ongoing TIC training. We present salient quotes to illustrate the emergent themes. Results We interviewed a total of 36 Trainers and identified the following emergent themes from the interviews: (1) Perceived need for the TIC training, (2) Perspective shift in patient care, (3) Increased support for staff wellness, (4) Importance of equal involvement of staff at all levels, (5) Need for leadership buy-in, and (6) Lack of self-efficacy and empowerment to train others. Conclusions A trauma-informed environment in a healthcare setting can bolster patient-centered care as well as a culture of staff wellness. This qualitative evaluation revealed that after TIC training, Trainers had improved attitudes and behaviors to commit to organizational TIC transformation to prevent unintended consequences of trauma for both patients and staff. Trainers’ experiences with and suggestions for enhancing the TIC training should be considered for training future cohorts as they continue to strive for TIC transformation in their health centers.

Published
2024
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7. Correction: Need for ICU and outcome of critically ill patients with COVID-19 and haematological malignancies: results from the EPICOVIDEHA survey

Author

Lahmer, Tobias, Salmanton-García, Jon, Marchesi, Francesco, El-Ashwah, Shaimaa, Nucci, Marcio, Besson, Caroline, Itri, Federico, Jaksic, Ozren, Čolović, Natasha, Weinbergerová, Barbora, Seval, Guldane Cengiz, Adžić-Vukičević, Tatjana, Szotkowski, Tomáš, Sili, Uluhan, Dargenio, Michelina, van Praet, Jens, van Doesum, Jaap, Schönlein, Martin, Ráčil, Zdeněk, Žák, Pavel, Poulsen, Christian Bjørn, Magliano, Gabriele, Jiménez, Moraima, Bonuomo, Valentina, Piukovics, Klára, Dragonetti, Giulia, Demirkan, Fatih, Blennow, Ola, Valković, Toni, Gomes Da Silva, Maria, Maertens, Johan, Glenthøj, Andreas, Fernández, Noemí, Bergantim, Rui, Verga, Luisa, Petzer, Verena, Omrani, Ali S., Méndez, Gustavo-Adolfo, Machado, Marina, Ledoux, Marie-Pierre, Bailén, Rebeca, Duarte, Rafael F., Del Principe, Maria Ilaria, Farina, Francesca, Martín-Pérez, Sonia, Dávila-Valls, Julio, Marchetti, Monia, Bilgin, Yavuz M., Fracchiolla, Nicola S., Cattaneo, Chiara, Espigado, Ildefonso, Cordoba, Raul, Collins, Graham P., Labrador, Jorge, Falces-Romero, Iker, Prezioso, Lucia, Meers, Stef, Passamonti, Francesco, Buquicchio, Caterina, López-García, Alberto, Kulasekararaj, Austin, Ormazabal-Vélez, Irati, Cuccaro, Annarosa, Garcia-Vidal, Carolina, Busca, Alessandro, Navrátil, Milan, de Jonge, Nick, Biernat, Monika M., Guidetti, Anna, Abu-Zeinah, Ghaith, Samarkos, Michail, Anastasopoulou, Amalia, de Ramón, Cristina, González-López, Tomás José, Hoenigl, Martin, Finizio, Olimpia, Pinczés, László Imre, Ali, Natasha, Vena, Antonio, Tascini, Carlo, Stojanoski, Zlate, Merelli, Maria, Emarah, Ziad, Kohn, Milena, Barać, Aleksandra, Mladenović, Miloš, Mišković, Bojana, Ilhan, Osman, Çolak, Gökçe Melis, Čerňan, Martin, Gräfe, Stefanie K., Ammatuna, Emanuele, Hanakova, Michaela, Víšek, Benjamín, Cabirta, Alba, Nordlander, Anna, Nunes Rodrigues, Raquel, Hersby, Ditte Stampe, Zambrotta, Giovanni Paolo Maria, Wolf, Dominik, Núñez-Martín-Buitrago, Lucía, Arellano, Elena, Aiello, Tommaso Francesco, García-Sanz, Ramón, Prattes, Juergen, Egger, Matthias, Limongelli, Alessandro, Bavastro, Martina, Cvetanoski, Milche, Dibos, Miriam, Rasch, Sebastian, Rahimli, Laman, Cornely, Oliver A., and Pagano, Livio

Published
2024
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8. Need for ICU and outcome of critically ill patients with COVID-19 and haematological malignancies: results from the EPICOVIDEHA survey

Author

Lahmer, Tobias, Salmanton-García, Jon, Marchesi, Francesco, El-Ashwah, Shaimaa, Nucci, Marcio, Besson, Caroline, Itri, Federico, Jaksic, Ozren, Čolović, Natasha, Weinbergerová, Barbora, Seval, Guldane Cengiz, Adžić-Vukičević, Tatjana, Szotkowski, Tomáš, Sili, Uluhan, Dargenio, Michelina, van Praet, Jens, van Doesum, Jaap, Schönlein, Martin, Ráčil, Zdeněk, Žák, Pavel, Poulsen, Christian Bjørn, Magliano, Gabriele, Jiménez, Moraima, Bonuomo, Valentina, Piukovics, Klára, Dragonetti, Giulia, Demirkan, Fatih, Blennow, Ola, Valković, Toni, Gomes Da Silva, Maria, Maertens, Johan, Glenthøj, Andreas, Fernández, Noemí, Bergantim, Rui, Verga, Luisa, Petzer, Verena, Omrani, Ali S., Méndez, Gustavo-Adolfo, Machado, Marina, Ledoux, Marie-Pierre, Bailén, Rebeca, Duarte, Rafael F., Del Principe, Maria Ilaria, Farina, Francesca, Martín-Pérez, Sonia, Dávila-Valls, Julio, Marchetti, Monia, Bilgin, Yavuz M., Fracchiolla, Nicola S., Cattaneo, Chiara, Espigado, Ildefonso, Cordoba, Raul, Collins, Graham P., Labrador, Jorge, Falces-Romero, Iker, Prezioso, Lucia, Meers, Stef, Passamonti, Francesco, Buquicchio, Caterina, López-García, Alberto, Kulasekararaj, Austin, Ormazabal-Vélez, Irati, Cuccaro, Annarosa, Garcia-Vidal, Carolina, Busca, Alessandro, Navrátil, Milan, de Jonge, Nick, Biernat, Monika M., Guidetti, Anna, Abu-Zeinah, Ghaith, Samarkos, Michail, Anastasopoulou, Amalia, de Ramón, Cristina, González-López, Tomás José, Hoenigl, Martin, Finizio, Olimpia, Pinczés, László Imre, Ali, Natasha, Vena, Antonio, Tascini, Carlo, Stojanoski, Zlate, Merelli, Maria, Emarah, Ziad, Kohn, Milena, Barać, Aleksandra, Mladenović, Miloš, Mišković, Bojana, Ilhan, Osman, Çolak, Gökçe Melis, Čerňan, Martin, Gräfe, Stefanie K., Ammatuna, Emanuele, Hanakova, Michaela, Víšek, Benjamín, Cabirta, Alba, Nordlander, Anna, Nunes Rodrigues, Raquel, Hersby, Ditte Stampe, Zambrotta, Giovanni Paolo Maria, Wolf, Dominik, Núñez-Martín-Buitrago, Lucía, Arellano, Elena, Aiello, Tommaso Francesco, García-Sanz, Ramón, Prattes, Juergen, Egger, Matthias, Limongelli, Alessandro, Bavastro, Martina, Cvetanoski, Milche, Dibos, Miriam, Rasch, Sebastian, Rahimli, Laman, Cornely, Oliver A., and Pagano, Livio

Published
2024
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9. Barriers to and facilitators of implementing colorectal cancer screening evidence-based interventions in federally qualified health centers: a qualitative study

Author

Emanuelle M. Dias, Joe R. Padilla, Paula M. Cuccaro, Timothy J. Walker, Bijal A. Balasubramanian, Lara S. Savas, Melissa A. Valerio-Shewmaker, Roshanda S. Chenier, and Maria E. Fernandez

Subjects
Barriers, Cancer, CFIR, Colorectal cancer screening, Content analysis, Evidence-based interventions, Public aspects of medicine, RA1-1270
Abstract

Abstract Background There is an urgent need to increase colorectal cancer screening (CRCS) uptake in Texas federally qualified health centers (FQHCs), which serve a predominantly vulnerable population with high demands. Empirical support exists for evidence-based interventions (EBIs) that are proven to increase CRCS; however, as with screening, their use remains low in FQHCs. This study aimed to identify barriers to and facilitators of implementing colorectal cancer screening (CRCS) evidence-based interventions (EBIs) in federally qualified health centers (FQHCs), guided by the Consolidated Framework for Implementation Research (CFIR). Methods We recruited employees involved in implementing CRCS EBIs (e.g., physicians) using data from a CDC-funded program to increase the CRCS in Texas FQHCs. Through 23 group interviews, we explored experiences with practice change, CRCS promotion and quality improvement initiatives, organizational readiness, the impact of COVID-19, and the use of CRCS EBIs (e.g., provider reminders). We used directed content analysis with CFIR constructs to identify the critical facilitators and barriers. Results The analysis revealed six primary CFIR constructs that influence implementation: information technology infrastructure, innovation design, work infrastructure, performance measurement pressure, assessing needs, and available resources. Based on experiences with four recommended EBIs, participants described barriers, including data limitations of electronic health records and the design of reminder alerts targeted at deliverers and recipients of patient or provider reminders. Implementation facilitators include incentivized processes to increase provider assessment and feedback, existing clinic processes (e.g., screening referrals), and available resources to address patient needs (e.g., transportation). Staff buy-in emerged as an implementation facilitator, fostering a conducive environment for change within clinics. Conclusions Using CFIR, we identified barriers, such as the burden of technology infrastructure, and facilitators, such as staff buy-in. The results, which enhance our understanding of CRCS EBI implementation in FQHCs, provide insights into designing nuanced, practical implementation strategies to improve cancer control in a critical setting.

Published
2024
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10. Genome-wide association analysis and admixture mapping in a Puerto Rican cohort supports an Alzheimer disease risk locus on chromosome 12

Author

Bilcag Akgun, Briseida E. Feliciano-Astacio, Kara L. Hamilton-Nelson, Kyle Scott, Joe Rivero, Larry D. Adams, Jose J. Sanchez, Glenies S. Valladares, Sergio Tejada, Parker L. Bussies, Concepcion Silva-Vergara, Vanessa C. Rodriguez, Pedro R. Mena, Katrina Celis, Patrice G. Whitehead, Michael Prough, Christina Kosanovic, Derek J. Van Booven, Michael A. Schmidt, Heriberto Acosta, Anthony J. Griswold, Clifton L. Dalgard, Katalina F. McInerney, Gary W. Beecham, Michael L. Cuccaro, Jeffery M. Vance, Margaret A. Pericak-Vance, and Farid Rajabli

Subjects
Alzheimer disease, chromosome 12, genome-wide association study, admixture mapping, Puerto Ricans, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

IntroductionHispanic/Latino populations are underrepresented in Alzheimer Disease (AD) genetic studies. Puerto Ricans (PR), a three-way admixed (European, African, and Amerindian) population is the second-largest Hispanic group in the continental US. We aimed to conduct a genome-wide association study (GWAS) and comprehensive analyses to identify novel AD susceptibility loci and characterize known AD genetic risk loci in the PR population.Materials and methodsOur study included Whole Genome Sequencing (WGS) and phenotype data from 648 PR individuals (345 AD, 303 cognitively unimpaired). We used a generalized linear-mixed model adjusting for sex, age, population substructure, and genetic relationship matrix. To infer local ancestry, we merged the dataset with the HGDP/1000G reference panel. Subsequently, we conducted univariate admixture mapping (AM) analysis.ResultsWe identified suggestive signals within the SLC38A1 and SCN8A genes on chromosome 12q13. This region overlaps with an area of linkage of AD in previous studies (12q13) in independent data sets further supporting. Univariate African AM analysis identified one suggestive ancestral block (p = 7.2×10−6) located in the same region. The ancestry-aware approach showed that this region has both European and African ancestral backgrounds and both contributing to the risk in this region. We also replicated 11 different known AD loci -including APOE- identified in mostly European studies, which is likely due to the high European background of the PR population.ConclusionPR GWAS and AM analysis identified a suggestive AD risk locus on chromosome 12, which includes the SLC38A1 and SCN8A genes. Our findings demonstrate the importance of designing GWAS and ancestry-aware approaches and including underrepresented populations in genetic studies of AD.

Published
2024
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11. Subcellular effects of imidazolium-based ionic liquids with varying anions on the marine bivalve Mytilus galloprovincialis

Author

Matilde Vieira Sanches, Carlo Pretti, Andrea Mezzetta, Lorenzo Guazzelli, Alessia Cuccaro, Lucia De Marchi, Rosa Freitas, and Matteo Oliva

Subjects
Mytilus galloprovincialis, Ionic liquids, Biomarkers, Ecotoxicology, S9 fraction, Science (General), Q1-390, Social sciences (General), H1-99
Abstract

Green Chemistry involves applying a set of principles aimed at minimizing the use of hazardous substances in the design, production, and application of chemical products. In recent decades, Ionic Liquids (ILs) have emerged as more environmentally friendly substitutes for traditional organic solvents. This preference is primarily due to their low vapor pressure, which results in minimal atmospheric pollution and enhanced industrial safety. However, existing literature highlights the toxicity of ILs towards aquatic invertebrates. Consequently, this study points to assess the biochemical effects of a selection of ILs through an in vitro approach. Specifically, digestive gland and gill cellular fractions (S9) of the marine bivalve Mytilus galloprovincialis were exposed to varying concentrations (0.05–2 μM) of three ILs featuring identical cations but different anions. The ILs tested were 1-ethyl-3-methylimidazolium octanoate ([EMIM][Oct]), 1-ethyl-3-methylimidazolium acetate ([EMIM][OAc]), and 1-ethyl-3-methylimidazolium ethyl sulfate ([EMIM][EtSO4]). The results indicate that [EMIM][Oct] induces higher toxicity in both S9 tissues, highlighting a strong effect of the anion. Overall, antioxidant and biotransformation defenses were significantly altered for all three ILs assessed. While acetylcholinesterase activity was significantly inhibited of about half of control activity, indicating neurotoxic damage as part of the toxicity mode of action of these ILs, neither lipid peroxidation nor alterations to DNA integrity were observed (≥100 %). This study supports the use of in vitro techniques as important tools capable of generating reliable ecotoxicological data, which can be further considered as a screening before in vivo testing and used for in silico modeling.

Published
2024
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12. Disentangling the genetic underpinnings of neuropsychiatric symptoms in Alzheimer's disease in the Alzheimer's Disease Sequencing Project: Study design and methodology

Author

Nicholas R. Ray, Ajneesh Kumar, Andrew Zaman, Pamela delRosario, Pedro R. Mena, Masood Manoochehri, Colin Stein, Alyssa N. De Vito, Robert A. Sweet, Timothy J. Hohman, Michael L. Cuccaro, Gary W. Beecham, Edward D. Huey, and Christiane Reitz

Subjects
Alzheimer's disease, Alzheimer's Disease Sequencing Project, genetics, neuropsychiatric symptoms, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6
Abstract

Abstract INTRODUCTION Neuropsychiatric symptoms (NPS) are highly prevalent in Alzheimer's disease (AD). There are no effective treatments targeting these symptoms. METHODS To facilitate identification of causative mechanistic pathways, we initiated an effort (NIH: U01AG079850) to collate, harmonize, and analyze all available NPS data (≈ 100,000 samples) of diverse ancestries with whole‐genome sequencing data from the Alzheimer's Disease Sequencing Project (ADSP). RESULTS This study will generate a genomic resource for Alzheimer's disease with both harmonized whole‐genome sequencing and NPS phenotype data that will be publicly available through NIAGADS. Primary analyses will (1) identify novel genetic risk factors associated with NPS in AD, (2) characterize the shared genetic architecture of NPS in AD and primary psychiatric disorders, and (3) assess the role of ancestry effects in the etiology of NPS in AD. DISCUSSION Expansion of the ADSP to harmonize and refine NPS phenotypes coupled with the proposed core analyses will lay the foundation to disentangle the molecular mechanisms underlying these detrimental symptoms in AD in diverse populations. Highlights Neuropsychiatric symptoms (NPS) are highly prevalent in Alzheimer's disease (AD). There are no effective treatments targeting NPS in AD. The current effort aims to collate, harmonize, and analyze all NPS data from the Alzheimer's Disease Sequencing Project. Core analyses will identify underlying genetic factors and mechanistic pathways. The harmonized genomic and phenotypic data from this initiative will be available through National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site.

Published
2024
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13. Exploring the relationship between vaccine hesitancy and mothers’ perspectives on COVID-19 vaccines for children ages 5–11 years during the omicron predominant period 2021–2022: a qualitative study

Author

Tiffany A. Suragh, David Adzrago, Marlyn A. Allicock, Paul G. Yeh, and Paula Cuccaro

Subjects
COVID-19, childhood vaccination, vaccine hesitancy, vaccine refusal, qualitative, Public aspects of medicine, RA1-1270
Abstract

BackgroundThe United States Food and Drug Administration authorized COVID-19 vaccines for children ages 5–11 years in October 2021 during the Omicron predominant period. Parental vaccine hesitancy was prevalent during this time, resulting in low childhood COVID-19 vaccine uptake. Most studies exploring factors influencing parental vaccine hesitancy have focused on racial and ethnic minorities and lower socioeconomic populations; however, there is little knowledge of the drive drivers of vaccine hesitancy among White parents with higher education and socioeconomic statuses.MethodsWe conducted semi-structured interviews with a sample of 15 White mothers of children ages 5–11 years in Atlanta, GA, between October–December 2021. Thematic analysis was performed using NVivo 12.ResultsMothers were college-educated, homeowners, and fully vaccinated against COVID-19. Key findings included decreased pediatrician’s recommendations for COVID-19 vaccines, reliance on information from specialized doctors and scientists, distrust in public health authorities, high risk-perception of COVID-19 vaccines, and low risk-perception of COVID-19 disease. Factors related to vaccine acceptance were altruism and practicality.ConclusionThis study adds to the sparse literature on reasons for vaccine hesitancy among White mothers of children ages 5–11 years with higher educational and socioeconomic status. Improving vaccine uptake among this group is critical for protecting the health of their children and other vulnerable populations. Tailored vaccine messaging and intervention are warranted to address their unique attitudes, beliefs, and behaviors. An enhanced understanding of the factors influencing subpopulations of parents can help vaccine policymakers and healthcare providers improve efforts to reduce vaccine hesitancy, particularly for new vaccines.

Published
2024
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15. Breakthrough COVID-19 in vaccinated patients with hematologic malignancies: results from EPICOVIDEHA survey

Author

Pagano, Livio, Salmanton-García, Jon, Marchesi, Francesco, Blennow, Ola, da Silva, Maria Gomes, Glenthøj, Andreas, van Doesum, Jaap, Bilgin, Yavuz M, López-García, Alberto, Itri, Federico, Rodrigues, Raquel Nunes, Weinbergerová, Barbora, Farina, Francesca, Dragonetti, Giulia, Venemyr, Caroline Berg, van Praet, Jens, Jaksic, Ozren, Valković, Toni, Falces-Romero, Iker, Martín-Pérez, Sonia, Jiménez, Moraima, Dávila-Valls, Julio, Schönlein, Martin, Ammatuna, Emanuele, Meers, Stef, Delia, Mario, Stojanoski, Zlate, Nordlander, Anna, Lahmer, Tobias, Pinczés, László Imre, Buquicchio, Caterina, Piukovics, Klára, Ormazabal-Vélez, Irati, Fracchiolla, Nicola, Samarkos, Michail, Méndez, Gustavo-Adolfo, Hernández-Rivas, José-Ángel, Espigado, Ildefonso, Cernan, Martin, Petzer, Verena, Lamure, Sylvain, di Blasi, Roberta, de Almedia, Joyce Marques, Dargenio, Michelina, Biernat, Monika M, Sciumè, Mariarita, de Ramón, Cristina, de Jonge, Nick, Batinić, Josip, Aujayeb, Avinash, Marchetti, Monia, Fouquet, Guillemette, Fernández, Noemí, Zambrotta, Giovanni, Sacchi, Maria Vittoria, Guidetti, Anna, Demirkan, Fatih, Prezioso, Lucia, Ráčil, Zdeněk, Nucci, Marcio, Mladenović, Miloš, Liévin, Raphaël, Hanáková, Michaela, Gräfe, Stefanie, Sili, Uluhan, Machado, Marina, Cattaneo, Chiara, Adžić-Vukičević, Tatjana, Verga, Luisa, Labrador, Jorge, Rahimli, Laman, Bonanni, Matteo, Passamonti, Francesco, Pagliuca, Antonio, Corradini, Paolo, Hoenigl, Martin, Koehler, Philipp, Busca, Alessandro, Cornely, Oliver A, Serrano, Laura, Susana, José-María Ribera-Santa, Meletiadis, Joseph, Tsirigotis, Panagiotis, Coppola, Nicola, Mikulska, Malgorzata, Erben, Nurettin, Besson, Caroline, Merelli, Maria, González-López, Tomás-José, Loureiro-Amigo, Jorge, García-Vidal, Carolina, de Kort, Elizabeth, Cuccaro, Annarosa, Zompi, Sofia, Reizine, Florian, Finizio, Olimpia, Duléry, Rémy, Calbacho, Maria, Abu-Zeinah, Ghaith, and Malak, Sandra

Subjects
Biotechnology, Emerging Infectious Diseases, Biodefense, Immunization, Infectious Diseases, Lung, Vaccine Related, Cancer, Prevention, Good Health and Well Being, Adult, Humans, COVID-19, SARS-CoV-2, COVID-19 Testing, Hematologic Neoplasms, Antibodies, Monoclonal, Antiviral Agents, Antibodies, Viral, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Paediatrics and Reproductive Medicine, Immunology
Abstract

Limited data are available on breakthrough COVID-19 in patients with hematologic malignancy (HM) after anti-severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination. Adult patients with HM, ≥1 dose of anti-SARS-CoV-2 vaccine, and breakthrough COVID-19 between January 2021 and March 2022 were analyzed. A total of 1548 cases were included, mainly lymphoid malignancies (1181 cases, 76%). After viral sequencing in 753 cases (49%), the Omicron variant was prevalent (517, 68.7%). Most of the patients received ≤2 vaccine doses before COVID-19 (1419, 91%), mostly mRNA-based (1377, 89%). Overall, 906 patients (59%) received COVID-19-specific treatment. After 30-day follow-up from COVID-19 diagnosis, 143 patients (9%) died. The mortality rate in patients with the Omicron variant was 7.9%, comparable to other variants, with a significantly lower 30-day mortality rate than in the prevaccine era (31%). In the univariable analysis, older age (P < .001), active HM (P < .001), and severe and critical COVID-19 (P = .007 and P < .001, respectively) were associated with mortality. Conversely, patients receiving monoclonal antibodies, even for severe or critical COVID-19, had a lower mortality rate (P < .001). In the multivariable model, older age, active disease, critical COVID-19, and 2-3 comorbidities were correlated with a higher mortality, whereas monoclonal antibody administration, alone (P < .001) or combined with antivirals (P = .009), was protective. Although mortality is significantly lower than in the prevaccination era, breakthrough COVID-19 in HM is still associated with considerable mortality. Death rate was lower in patients who received monoclonal antibodies, alone or in combination with antivirals.

Published
2022

20. Using the R = MC2 heuristic to understand barriers to and facilitators of implementing school-based physical activity opportunities: a qualitative study

Author

Derek W. Craig, Timothy J. Walker, Paula Cuccaro, Shreela V. Sharma, Natalia I. Heredia, Michael C. Robertson, and Maria E. Fernandez

Subjects
Physical activity, Implementation, Organizational readiness, Schools, Public aspects of medicine, RA1-1270
Abstract

Abstract Background Schools are a key setting for supporting youth physical activity, given their broad reach and diverse student populations. Organizational readiness is a precursor to the successful implementation of school-based physical activity opportunities. The R = MC2 heuristic (Readiness = Motivation x Innovation-Specific Capacity x General Capacity) describes readiness as a function of an organization’s motivation and capacity to implement an innovation and can be applied to better understand the implementation process. The purpose of this study was to explore the barriers to and facilitators of implementing school-based physical activity opportunities in the context of organizational readiness. Methods We analyzed interview data from 15 elementary school staff (principals, assistant principals, physical education teachers, and classroom teachers) from a school district in Texas. We focused on factors related to adopting, implementing, and sustaining a variety of school-based physical activity opportunities. We used the Framework Method to guide the analysis and coded data using deductive (informed by the R = MC2 heuristic) and inductive approaches. Themes were generated using the frequency, depth, and richness of participant responses. Results Four themes emerged from the data: (1) implementation is aided by the presence of internal and external relationships; (2) physical activity opportunities compete with other school priorities; (3) seeing the benefits of physical activity opportunities motivates school staff toward implementation; and (4) staff buy-in is critical to the implementation process. Themes 1–3 aligned with subcomponents of the R = MC2 heuristic (intra- and inter-organizational relationships, priority, and observability), whereas Theme 4 (staff buy-in) related to multiple subcomponents within the Motivation component but was ultimately viewed as a distinct construct. Conclusion Our results highlight and explain how key readiness constructs impact the implementation of school-based physical activity opportunities. They also highlight the importance of obtaining staff buy-in when implementing in the school setting. This information is critical to developing readiness-building strategies that help schools improve their capacity to deliver physical activity opportunities effectively. Trial registration Not applicable.

Published
2024
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21. Multitube monitors: a new-generation of neutron beam monitors

Author

Lafont, F., Barkats, D., Buffet, J-C., Cuccaro, S., Guerard, B., Lai, C-C, Marchal, J., Pentenero, J., Sartor, N., Hall-Wilton, R., Kanaki, K., Robinson, L., and Svensson, P O.

Subjects
Physics - Instrumentation and Detectors
Abstract

With the renewal of many neutron science instruments and the commissioning of new neutron facilities, there is a rising demand for improved neutron beam monitoring systems with reduced beam perturbations and higher counting rate capability. Fission chambers are the most popular beam monitors; however, their use on some instruments may be prevented by the background generated by fast neutrons emitted during neutron captures in 235U and by neutrons scattered in the material of the fission chamber. Multitube detectors, on the other hand, offer a good alternative with minimum beam perturbations. The purpose of this paper is to report and analyse the results of the measurements performed with several Multitubes used for beam monitoring. We show that the transparency of Multitube beam monitors is 97.6 +/-0.4 %, and that their detection efficiency is uniform, with a deviation from the mean value < 0.7%. A counting rate reduction of 10% due to pile-up effects is measured at a rate of 550 kHz. In addition to neutron beam intensity monitoring, the Multitube can be configured for 1-dimensional or 2-dimensional localisation. We present the preliminary results of these additional functionalities., Comment: 15 pages, 16 figures

Published
2022
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22. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Author

Fu, Jack M, Satterstrom, F Kyle, Peng, Minshi, Brand, Harrison, Collins, Ryan L, Dong, Shan, Wamsley, Brie, Klei, Lambertus, Wang, Lily, Hao, Stephanie P, Stevens, Christine R, Cusick, Caroline, Babadi, Mehrtash, Banks, Eric, Collins, Brett, Dodge, Sheila, Gabriel, Stacey B, Gauthier, Laura, Lee, Samuel K, Liang, Lindsay, Ljungdahl, Alicia, Mahjani, Behrang, Sloofman, Laura, Smirnov, Andrey N, Barbosa, Mafalda, Betancur, Catalina, Brusco, Alfredo, Chung, Brian HY, Cook, Edwin H, Cuccaro, Michael L, Domenici, Enrico, Ferrero, Giovanni Battista, Gargus, J Jay, Herman, Gail E, Hertz-Picciotto, Irva, Maciel, Patricia, Manoach, Dara S, Passos-Bueno, Maria Rita, Persico, Antonio M, Renieri, Alessandra, Sutcliffe, James S, Tassone, Flora, Trabetti, Elisabetta, Campos, Gabriele, Cardaropoli, Simona, Carli, Diana, Chan, Marcus CY, Fallerini, Chiara, Giorgio, Elisa, Girardi, Ana Cristina, Hansen-Kiss, Emily, Lee, So Lun, Lintas, Carla, Ludena, Yunin, Nguyen, Rachel, Pavinato, Lisa, Pericak-Vance, Margaret, Pessah, Isaac N, Schmidt, Rebecca J, Smith, Moyra, Costa, Claudia IS, Trajkova, Slavica, Wang, Jaqueline YT, Yu, Mullin HC, Cutler, David J, De Rubeis, Silvia, Buxbaum, Joseph D, Daly, Mark J, Devlin, Bernie, Roeder, Kathryn, Sanders, Stephan J, and Talkowski, Michael E

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Autism, Brain Disorders, Pediatric, Biotechnology, Intellectual and Developmental Disabilities (IDD), Human Genome, Mental Health, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Mental health, Autism Spectrum Disorder, Autistic Disorder, DNA Copy Number Variations, Genetic Predisposition to Disease, Humans, Mutation, Autism Sequencing Consortium, Broad Institute Center for Common Disease Genomics, iPSYCH-BROAD Consortium, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disrupted by these variants from joint analysis of protein-truncating variants (PTVs), missense variants and copy number variants (CNVs) in a cohort of 63,237 individuals. We discovered 72 genes associated with ASD at false discovery rate (FDR) ≤ 0.001 (185 at FDR ≤ 0.05). De novo PTVs, damaging missense variants and CNVs represented 57.5%, 21.1% and 8.44% of association evidence, while CNVs conferred greatest relative risk. Meta-analysis with cohorts ascertained for developmental delay (DD) (n = 91,605) yielded 373 genes associated with ASD/DD at FDR ≤ 0.001 (664 at FDR ≤ 0.05), some of which differed in relative frequency of mutation between ASD and DD cohorts. The DD-associated genes were enriched in transcriptomes of progenitor and immature neuronal cells, whereas genes showing stronger evidence in ASD were more enriched in maturing neurons and overlapped with schizophrenia-associated genes, emphasizing that these neuropsychiatric disorders may share common pathways to risk.

Published
2022

23. Observed and Perceived Benefits of Providing Physical Activity Opportunities in Elementary Schools: A Qualitative Study

Author

Timothy J. Walker, Derek W. Craig, Christopher D. Pfledderer, Michael C. Robertson, Paula Cuccaro, Keisey Fumero, and John B. Bartholomew

Abstract

Introduction: Schools play an important role in promoting physical activity for youth. However, school-based physical activity opportunities often compete with other academic priorities, limiting their implementation. The purpose of this study was to qualitatively explore elementary school teacher and staff perspectives on providing physical activity opportunities and how they impact students and learning. Methods: We partnered with a school district in Texas to conduct semi-structured individual interviews. We used a purposeful sampling approach to recruit elementary teachers and staff knowledgeable about the physical activity opportunities provided at their school. Interviews included questions about participant opinions of providing physical activity opportunities and the types of opportunities provided. We analyzed data using a directed content analysis and iterative categorization approach. Results: Fifteen participants (4 teachers, 4 physical education teachers, 3 assistant principals, and 4 principals) completed interviews from 10 elementary schools. Participants discussed observed and perceived benefits when providing physical activity opportunities, which emerged into four themes and subthemes: (1) academic benefits (learning readiness, learning engagement, and academic performance); (2) social-emotional benefits (behavior, interpersonal and social skills, and classroom culture); (3) physical benefits (brain health, skill development, physical health); and (4) instructional benefits (quality teaching time, helpful teaching tools, and teacher-student relationships). Conclusions: Teachers and staff observed numerous benefits when students had opportunities to be physically active, including the positive impact on academic and social-emotional outcomes. Our findings highlight the alignment of physical activity with other school priorities. Physical activity programming can be used in ways to support academics, learning, behavior, and other important outcomes.

Published
2023
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24. An immersive Open Source environment using Godot

Author

Santucci, Francesca, Frenguelli, Federico, De Angelis, Alessandro, Cuccaro, Ilaria, Perri, Damiano, and Simonetti, Marco

Subjects
Computer Science - Graphics
Abstract

We present a sample implementation of a Virtual and Augmented Reality immersive environment based on Free and Libre Open Source Hardware and Software and the HTC Vive system, used to enhance the immersive experience of the user and to track her/his movements. The sense of immersion has increased and stimulated using a footplate and a Tibetan bridge, connected to the virtual world as Augmented Reality applications and implemented through an Arduino board, thereby adopting a low cost, open source hardware and software approach. The proposed architecture is relatively affordable from the cost point of view, easy to implement, configure and adapt to different contexts. It can be of great help for organizing laboratory classes for young students to afford the implementation of virtual worlds and Augmented Reality applications., Comment: International Conference on Computational Science and Its Applications, ICCSA 2020

Published
2021
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28. Patients with cancer who will be cured and projections of complete prevalence in Italy from 2018 to 2030

Author

Crocetti, Emanuele, Mallone, Sandra, Pierannunzio, Daniela, Contiero, Paolo, Tagliabue, Giovanna, Memo, Laura, Manneschi, Gianfranco, Ravaioli, Alessandra, Cuccaro, Francesco, Richiardi, Lorenzo, Casella, Claudia, Anna di Prima, Alessia, Maifredi, Giovanni, Lanzoni, Monica, Cirilli, Claudia, Leite, Silvia, Michiara, Maria, Ferraioli, Serena, Zarcone, Maurizio, Vitale, Maria Francesca, Giacomazzi, Erica, Ghisleni, Silvia, Bisceglia, Isabella, Gentilini, Maria A., Vittadello, Fabio, Spata, Eugenia, Marguati, Stefano, Del Riccio, Luciana, Concas, Elisa, Sessa, Alessandra, Colanino, Antonino Ziino, Prazzoli, Rita, Ferrari, Gianfabrizio, Canu, Luisa, Guzzinati, S., Toffolutti, F., Francisci, S., De Paoli, A., Giudici, F., De Angelis, R., Demuru, E., Botta, L., Tavilla, A., Gatta, G., Capocaccia, R., Zorzi, M., Caldarella, A., Bidoli, E., Falcini, F., Bruni, R., Migliore, E., Puppo, A., Ferrante, M., Gasparotti, C., Gambino, M.L., Carrozzi, G., Bianconi, F., Musolino, A., Cavallo, R., Mazzucco, W., Fusco, M., Ballotari, P., Sampietro, G., Ferretti, S., Mangone, L., Mantovani, W., Mian, M., Cascone, G., Manzoni, F., Galasso, R., Piras, D., Pesce, M.T., Bella, F., Seghini, P., Fanetti, A.C., Pinna, P., Serraino, D., Rossi, S., and Dal Maso, L.

Published
2024
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29. Decoding the historical tale: COVID-19 impact on haematological malignancy patients—EPICOVIDEHA insights from 2020 to 2022Research in context

Author

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, Francisco Javier Martín-Vallejo, Przemyslaw Zdziarski, Hossein Zarrinfer, Jana Wittig, Sein Win, Vivien Wai-Man, Benjamín Víšek, Donald C. Vinh, Maria Vehreschild, Gina Varricchio, Panagiotis Tsirigotis, Ana Torres-Tienza, Alina Daniela Tanase, Agostino Tafuri, Maria Stamouli, Jiří Sramek, Carole Soussain, Ayten Shirinova, Jörg Schubert, Enrico Schalk, Mohammad Reza Salehi, Modar Saleh, Giorgio Rosati, Elisa Roldán, Florian Reizine, Mayara Rêgo, Isabel Regalado-Artamendi, Marina Popova, Fernando Pinto, Laure Philippe, Hans Martin Orth, Hans-Beier Ommen, Aleš Obr, Lucía Núñez-Martín-Buitrago, Nicolas Noël, Julia Neuhann, Gianpaolo Nadali, Julia A. Nacov, Ana M. Munhoz Alburquerque, Maria Enza Mitra, Malgorzata Mikulska, Sibylle Mellinghoff, Ben Mechtel, Juan-Alberto Martín-González, Sandra Malak, Jorge Loureiro-Amigo, Lisset Lorenzo De La Peña, Giulia Liberti, Marianne Landau, Ira Lacej, Martin Kolditz, Chi Shan Kho, Reham Abdelaziz Khedr, Meinolf Karthaus, Linda Katharina Karlsson, María-Josefa Jiménez-Lorenzo, Macarena Izuzquiza, Baerbel Hoell-Neugebauer, Raoul Herbrecht, Christopher H. Heath, Fabio Guolo, Jan Grothe, Antonio Giordano, Sergey Gerasymchuk, Ramón García-Sanz, Nicole García-Poutón, Vaneuza Araújo Moreira Funke, Monica Fung, Charlotte Flasshove, Luana Fianchi, Jenna Essame, Matthias Egger, Bernard Drenou, Giulia Dragonetti, Maximilian Desole, Roberta Della Pepa, Bénédicte Deau Fischer, Elizabeth De Kort, Erik De Cabo, François Danion, Etienne Daguindau, Tania Cushion, Louise Cremer, Marianna Criscuolo, Gregorio Cordini, Antonella Cingolani, Fabio Ciceri, Fazle Rabbi Chowdhury, Ekaterina Chelysheva, Adrien Chauchet, Louis Yi Ann Chai, M. Mansour Ceesay, Elena Busch, Mathias Brehon, Davimar M.M. Borducchi, Stephen Booth, Serge Bologna, Caroline Berg Venemyr, Rebeca Bailén-Almorox, Anastasia Antoniadou, Amalia N. Anastasopoulou, and Fevzi Altuntaş

Subjects
Vaccination, ICU, COVID-19, Haematological malignancy, Immunosuppression, Medicine (General), R5-920
Abstract

Summary: 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. It spans various global locations, allowing comprehensive analysis over the first three years (2020–2022). Findings: The EPICOVIDEHA registry collected data from January 2020 to December 2022, involving 8767 COVID-19 cases in hematological malignancy patients from 152 centers across 41 countries, with 42% being female. Over this period, there was a significant reduction in critical infections and an overall decrease in mortality from 29% to 4%. However, hospitalization, particularly in the ICU, remained associated with higher mortality rates. Factors contributing to increased mortality included age, multiple comorbidities, active malignancy at COVID-19 onset, pulmonary symptoms, and hospitalization. On the positive side, vaccination with one to two doses or three or more doses, as well as encountering COVID-19 in 2022, were associated with improved survival. Interpretation: Patients with hematological malignancies still face elevated risks, despite reductions in critical infections and overall mortality rates over time. Hospitalization, especially in ICUs, remains a significant concern. The study underscores the importance of vaccination and the timing of COVID-19 exposure in 2022 for enhanced survival in this patient group. Ongoing monitoring and targeted interventions are essential to support this vulnerable population, emphasizing the critical role of timely diagnosis and prompt treatment in preventing severe COVID-19 cases. Funding: Not applicable.

Published
2024
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30. Generation of an induced pluripotent stem cell line (UMi043-A) from an African American patient with Alzheimer’s disease carrying an ABCA7 deletion (p.Arg578Alafs)

Author

Holly N. Cukier, Shaina A. Simon, Eugene Tang, Charles G. Golightly, Mayra Juliana Laverde-Paz, Larry Deon Adams, Takiyah D. Starks, Jeffery M. Vance, Michael L. Cuccaro, Jonathan L. Haines, Goldie S. Byrd, Margaret A. Pericak-Vance, and Derek M. Dykxhoorn

Subjects
Biology (General), QH301-705.5
Abstract

The ATP-binding cassette, subfamily A (ABC1), member 7 (ABCA7) gene is associated with Alzheimer’s disease (AD) risk in populations of African, Asian, and European ancestry1-5. Numerous ABCA7 mutations contributing to risk have been identified, including a 44 base pair deletion (rs142076058) specific to individuals of African ancestry and predicted to cause a frameshift mutation (p.Arg578Alafs) (Cukier et al., 2016). The UMi043-A human induced pluripotent stem cell line was derived from an African American individual with AD who is heterozygous for this deletion and is a resource to further investigate ABCA7 and how this African-specific deletion may influence disease pathology.

Published
2024
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31. New insights into the genetic etiology of Alzheimer’s disease and related dementias

Author

Bellenguez, Céline, Küçükali, Fahri, Jansen, Iris E, Kleineidam, Luca, Moreno-Grau, Sonia, Amin, Najaf, Naj, Adam C, Campos-Martin, Rafael, Grenier-Boley, Benjamin, Andrade, Victor, Holmans, Peter A, Boland, Anne, Damotte, Vincent, van der Lee, Sven J, Costa, Marcos R, Kuulasmaa, Teemu, Yang, Qiong, de Rojas, Itziar, Bis, Joshua C, Yaqub, Amber, Prokic, Ivana, Chapuis, Julien, Ahmad, Shahzad, Giedraitis, Vilmantas, Aarsland, Dag, Garcia-Gonzalez, Pablo, Abdelnour, Carla, Alarcón-Martín, Emilio, Alcolea, Daniel, Alegret, Montserrat, Alvarez, Ignacio, Álvarez, Victoria, Armstrong, Nicola J, Tsolaki, Anthoula, Antúnez, Carmen, Appollonio, Ildebrando, Arcaro, Marina, Archetti, Silvana, Pastor, Alfonso Arias, Arosio, Beatrice, Athanasiu, Lavinia, Bailly, Henri, Banaj, Nerisa, Baquero, Miquel, Barral, Sandra, Beiser, Alexa, Pastor, Ana Belén, Below, Jennifer E, Benchek, Penelope, Benussi, Luisa, Berr, Claudine, Besse, Céline, Bessi, Valentina, Binetti, Giuliano, Bizarro, Alessandra, Blesa, Rafael, Boada, Mercè, Boerwinkle, Eric, Borroni, Barbara, Boschi, Silvia, Bossù, Paola, Bråthen, Geir, Bressler, Jan, Bresner, Catherine, Brodaty, Henry, Brookes, Keeley J, Brusco, Luis Ignacio, Buiza-Rueda, Dolores, Bûrger, Katharina, Burholt, Vanessa, Bush, William S, Calero, Miguel, Cantwell, Laura B, Chene, Geneviève, Chung, Jaeyoon, Cuccaro, Michael L, Carracedo, Ángel, Cecchetti, Roberta, Cervera-Carles, Laura, Charbonnier, Camille, Chen, Hung-Hsin, Chillotti, Caterina, Ciccone, Simona, Claassen, Jurgen AHR, Clark, Christopher, Conti, Elisa, Corma-Gómez, Anaïs, Costantini, Emanuele, Custodero, Carlo, Daian, Delphine, Dalmasso, Maria Carolina, Daniele, Antonio, Dardiotis, Efthimios, Dartigues, Jean-François, de Deyn, Peter Paul, de Paiva Lopes, Katia, de Witte, Lot D, Debette, Stéphanie, Deckert, Jürgen, and del Ser, Teodoro

Subjects
Biochemistry and Cell Biology, Genetics, Biological Sciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, Neurodegenerative, Alzheimer's Disease, Human Genome, Prevention, Aging, Brain Disorders, Acquired Cognitive Impairment, Neurosciences, Genetic Testing, 2.1 Biological and endogenous factors, Aetiology, Neurological, Alzheimer Disease, Cognitive Dysfunction, Genome-Wide Association Study, Humans, tau Proteins, EADB, GR@ACE, DEGESCO, EADI, GERAD, Demgene, FinnGen, ADGC, CHARGE, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele.

Published
2022

32. New national and regional Annex I Habitat records: from #83 to #101

Author

Giovanni Rivieccio, Simonetta Bagella, Giuseppe Bazan, Salvatore Cambria, Silvia Cannucci, Giulia Capotorti, Maria Carmela Caria, Virginia Chiara Cuccaro, Leopoldo de Simone, Giuliano Fanelli, Emanuele Fanfarillo, Tiberio Fiaschi, Matilde Gennai, Lorenzo Gianguzzi, Duilio Iamonico, Dario La Montagna, Francesco Mascia, Giacomo Mei, Antonio Morabito, Carmelo Maria Musarella, Gianluca Orrù, Ines Orrù, Glauco Patera, Gaetano Pazienza, Enrico Vito Perrino, Riccardo Rocca, Silvia Serra, Giovanni Spampinato, Adriano Stinca, Gianmarco Tavilla, Francesco Todaro, Valeria Tomaselli, and Claudia Angiolini

Subjects
Plant culture, SB1-1110, Plant ecology, QK900-989
Abstract

New Italian data on the distribution of 17 Annex I Habitats are reported in this contribution. Specifically, 11 new occurrences in Natura 2000 sites are presented and 30 new cells are added in the EEA 10 km × 10 km reference grid. The new data refer to the Italian administrative regions of Apulia, Campania, Calabria, Lazio, Sardinia, Sicily and Tuscany.

Published
2023
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33. Age, successive waves, immunization, and mortality in elderly COVID-19 hematological patients: EPICOVIDEHA findings

Author

Giuseppe Rossi, Jon Salmanton-García, Chiara Cattaneo, Francesco Marchesi, Julio Dávila-Valls, Sonia Martín-Pérez, Federico Itri, Alberto López-García, Andreas Glenthøj, Maria Gomes da Silva, Caroline Besson, Monia Marchetti, Barbora Weinbergerová, Ozren Jaksic, Moraima Jiménez, Yavuz M. Bilgin, Jaap Van Doesum, Francesca Farina, Pavel Žák, Luisa Verga, Graham P. Collins, Valentina Bonuomo, Jens Van Praet, Marcio Nucci, Stef Meers, Ildefonso Espigado, Nicola S. Fracchiolla, Toni Valković, Christian Bjørn Poulsen, Natasha Čolović, Giulia Dragonetti, Marie-Pierre Ledoux, Carlo Tascini, Caterina Buquicchio, Ola Blennow, Francesco Passamonti, Marina Machado, Jorge Labrador, Rafael F. Duarte, Martin Schönlein, Lucia Prezioso, Iker Falces-Romero, Austin Kulasekararaj, Carolina Garcia-Vidal, Noemí Fernández, Ghaith Abu-Zeinah, Irati Ormazabal-Vélez, Tatjana Adžić-Vukičević, Klára Piukovics, Igor Stoma, Annarosa Cuccaro, Gabriele Magliano, Tomáš Szotkowski, Tomás-José González-López, Shaimaa El-Ashwah, Rui Bergantim, Uluhan Sili, Johan Maertens, Fatih Demirkan, Cristina De Ramón, Verena Petzer, Maria Ilaria Del Principe, Milan Navrátil, Michelina Dargenio, Guldane Cengiz Seval, Michail Samarkos, Zdeněk Ráčil, László Imre Pinczés, Tobias Lahmer, Alessandro Busca, Gustavo-Adolfo Méndez, Antonio Vena, Monika M. Biernat, Maria Merelli, Maria Calbacho, Aleksandra Barać, Martina Bavastro, Alessandro Limongelli, Osman Ilhan, Dominik Wolf, Gökçe Melis Çolak, Ramón García-Sanz, Ziad Emarah, Bojana Mišković, Stefanie K. Gräfe, Miloš Mladenović, Tommaso Francesco Aiello, Lucía Núñez-Martín-Buitrago, Anna Nordlander, Elena Arellano, Giovanni Paolo Maria Zambrotta, Emanuele Ammatuna, Alba Cabirta, Maria Vittoria Sacchi, Raquel Nunes Rodrigues, Ditte Stampe Hersby, Michaela Hanakova, Laman Rahimli, Raul Cordoba, Oliver A. Cornely, Livio Pagano, Joyce MARQUES DE ALMEIDA, José-Ángel HERNÁNDEZ-RIVAS, Anna GUIDETTI, Olimpia FINIZIO, Zlate STOJANOSKI, Milche CVETANOSKI, Joseph MELETIADIS, Nick DE JONGE, Darko ANTIĆ, Natasha ALI, Maria Chiara TISI, Laura SERRANO, Gaëtan PLANTEFEVE, Nina KHANNA, Martin HOENIGL, Martin ČERŇAN, Carolina MIRANDA-CASTILLO, María FERNÁNDEZ-GALÁN, Alexandra SERRIS, Nurettin ERBEN, Rémy DULÉRY, Avinash AUJAYEB, Mario Virgilio PAPA, Jan NOVÁK, Mario DELIA, Giuseppe SAPIENZA, Florian REIZINE, Ali S. OMRANI, Roberta DI BLASI, Sylvain LAMURE, Ľuboš DRGOŇA, Nicola COPPOLA, Josip BATINIĆ, Murtadha AL-KHABORI, José-María RIBERA-SANTA SUSANA, Monica PIEDIMONTE, Jorge LOUREIRO-AMIGO, Guillemette FOUQUET, Rita FAZZI, François DANION, Jörg SCHUBERT, Baerbel HOELL-NEUGEBAUER, Nathan C. BAHR, Ayel Omar YAHIA, Ana TORRES-ATIENZA, Ikhwan RINALDI, Marina POPOVA, Hans-Beier OMMEN, Maria Enza MITRA, Malgorzata MIKULSKA, Ira LACEJ, Sofya KHOSTELIDI, Sein WIN, Donald VINH, Modar SALEH, Juergen PRATTES, Pavel JINDRA, Fabio GUOLO, Roberta DELLA PEPA, Ekaterina CHELYSHEVA, Przemyslaw ZDZIARSKI, Vivien WAI-MAN, Andrés SOTO-SILVA, Hans Martin ORTH, Sandra MALAK, Lisset LORENZO DE LA PEÑA, Martin KOLDITZ, Chi Shan KHO, Christopher H. HEATH, Ana GROH, Eleni GAVRIILAKI, Monica FUNG, Matthias EGGER, Elizabeth DE KORT, Erik DE CABO, Tania CUSHION, Fazle Rabbi CHOWDHURY, M. Mansour CEESAY, Mathias BREHON, Gina VARRICCHIO, Agostino TAFURI, María-Josefa JIMÉNEZ-LORENZO, Nikolai KLIMKO, Panagiotis TSIRIGOTIS, Anastasia ANTONIADOU, and Maria VEHRESCHILD

Subjects
Elderly, SARS-CoV-2, Hematological malignancy, High-risk patient, COVID-19, Infectious and parasitic diseases, RC109-216
Abstract

Objectives: Elderly patients with hematologic malignancies face the highest risk of severe COVID-19 outcomes. The infection's impact on different age groups remains unstudied in detail. Methods: We analyzed elderly patients (age groups: 65-70, 71-75, 76-80, and >80 years old) with hematologic malignancies included in the EPICOVIDEHA registry between January 2020 and July 2022. Univariable and multivariable Cox regression models were conducted to identify factors influencing death in COVID-19 patients with hematological malignancy. Results: The study included data from 3,603 elderly patients (aged 65 or older) with hematological malignancy, with a majority being male (58.1%) and a significant proportion having comorbidities. The patients were divided into four age groups, and the analysis assessed COVID-19 outcomes, vaccination status, and other variables in relation to age and pandemic waves. The 90-day survival rate for patients with COVID-19 was 71.2%, with significant differences between groups. The pandemic waves had varying impacts, with the first wave affecting patients over 80 years old, the second being more severe in 65-70, and the third being the least severe in all age groups. Factors contributing to 90-day mortality included age, comorbidities, lymphopenia, active malignancy, acute leukemia, less than three vaccine doses, severe COVID-19, and using only corticosteroids as treatment. Conclusion: These data underscore the heterogeneity of elderly hematological patients, highlight the different impacts of COVID-19 waves and the pivotal importance of vaccination, and may help in planning future healthcare efforts.

Published
2023
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34. Adapting an evidence-based mindfulness-based intervention for sheltered youth experiencing homelessness

Author

Diane Santa Maria, Paula Cuccaro, Kimberly Bender, Erica Sibinga, Natalie Guerrero, Najiba Keshwani, Jennifer Jones, and Micki Fine

Subjects
Youth homelessness, Mindfulness based interventions, ADAPT-ITT, Intervention adaptation, Youth shelters, Other systems of medicine, RZ201-999
Abstract

Abstract Objectives Youth experiencing homelessness (YEH) face challenges that impact their physical, mental, and social wellbeing, emotion regulation, and coping. Mindfulness reduces stress and improves resilience, emotion regulation, and executive functioning. Mindfulness-based interventions (MBI) teach the practice of mindfulness to foster present-moment attention without judgement and enhance self-observation and self-regulation, resulting in greater awareness of thoughts and emotions and improved interpersonal relationships. One such intervention, .b, has been shown to lower stress among youth. While a pilot study of .b among sheltered youth found the intervention to be feasible, the need for modifications was identified to improve its relevance, accessibility, and incorporate a trauma-informed approach. Methods We used the ADAPT-ITT (Assessment, Decisions, Administration, Production, Topical experts, Integration, Training staff, and Testing) framework to adapt the .b mindfulness intervention to YEH living in an emergency shelter. Nine focus group discussions (n = 56), key informant interviews (n = 8), and beta testing with five youth working group sessions (n = 10) identified needed modifications. Results Adaptations to the curriculum and delivery modality were made to approximate the average length of stay in the shelter; integrate trauma-informed care approaches; increase diversity of images by race, ethnicity, age, sexual orientation, and gender identity; and increase the relevance of the audio-visual components. Conclusions Youth and the health and social services providers who care for youth generally liked the core concepts and presentation of the curriculum. Using the ADAPT-ITT framework, minor, yet important, changes were made to increase the relevance, acceptability, and feasibility of the intervention. Next steps are to conduct a randomized attention control pilot study to assess feasibility and acceptability.

Published
2023
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35. Long-term survival for lymphoid neoplasms and national health expenditure (EUROCARE-6): a retrospective, population-based study

Author

Hackl, Monika, Van Eycken, Elizabeth, Van Damme, Nancy, Valerianova, Zdravka, Sekerija, Mario, Scoutellas, Vasos, Demetriou, Anna, Dušek, Ladislav, Krejici, Denisa, Storm, Hans, Mägi, Margit, Innos, Kaire, Pitkäniemi, Janne, Velten, Michel, Troussard, Xavier, Bouvier, Anne-Marie, Jooste, Valerie, Guizard, Anne-Valérie, Launoy, Guy, Dabakuyo Yonli, Sandrine, Maynadié, Marc, Woronoff, Anne-Sophie, Nousbaum, Jean-Baptiste, Coureau, Gaëlle, Monnereau, Alain, Baldi, Isabelle, Hammas, Karima, Tretarre, Brigitte, Colonna, Marc, Plouvier, Sandrine, D'Almeida, Tania, Molinié, Florence, Cowppli-Bony, Anne, Bara, Simona, Debreuve, Adeline, Defossez, Gautier, Lapôtre-Ledoux, Bénédicte, Grosclaude, Pascale, Daubisse-Marliac, Laetitia, Luttmann, Sabine, Eberle, Andrea, Stabenow, Roland, Nennecke, Alice, Kieschke, Joachim, Zeissig, Sylke, Holleczek, Bernd, Katalinic, Alexander, Birgisson, Helgi, Murray, Deirdre, Walsh, Paul M, Mazzoleni, Guido, Vittadello, Fabio, Cuccaro, Francesco, Galasso, Rocco, Sampietro, Giuseppe, Rosso, Stefano, Gasparotti, Cinzia, Maifredi, Giovanni, Ferrante, Margherita, Ragusa, Rosalia, Sutera Sardo, Antonella, Gambino, Maria Letizia, Lanzoni, Monica, Ballotari, Paola, Giacomazzi, Erica, Ferretti, Stefano, Caldarella, Adele, Manneschi, Gianfranco, Gatta, Gemma, Sant, Milena, Baili, Paolo, Berrino, Franco, Botta, Laura, Trama, Annalisa, Lillini, Roberto, Bernasconi, Alice, Bonfarnuzzo, Simone, Vener, Claudia, Didonè, Fabio, Lasalvia, Paolo, Buratti, Lucia, Tagliabue, Giovanna, Serraino, Diego, Dal Maso, Luigino, Capocaccia, Riccardo, De Angelis, Roberta, Demuru, Elena, Cerza, Francesco, Di Mari, Fabrizio, Di Benedetto, Corrado, Rossi, Silvia, Santaquilani, Mariano, Venanzi, Serenella, Tallon, Marco, Boni, Luca, Iacovacci, Silvia, Gennaro, Valerio, Russo, Antonio Giampiero, Gervasi, Federico, Spagnoli, Gianbattista, Cavalieri d'Oro, Luca, Fusco, Mario, Vitale, Maria Francesca, Usala, Mario, Mazzucco, Walter, Michiara, Maria, Chiranda, Giorgio, Cascone, Giuseppe, Rollo, Concetta Patrizia, Mangone, Lucia, Falcini, Fabio, Cavallo, Rossella, Piras, Daniela, Madeddu, Anselmo, Bella, Francesca, Fanetti, Anna Clara, Minerba, Sante, Candela, Giuseppina, Scuderi, Tiziana, Rizzello, Roberto Vito, Stracci, Fabrizio, Rugge, Massimo, Brustolin, Angelita, Pildava, Santa, Smailyte, Giedre, Azzopardi, Miriam, Johannesen, Tom Børge, Didkowska, Joanna, Wojciechowska, Urszula, Bielska-Lasota, Magdalena, Pais, Ana, Bento, Maria José, Ferreira, Ana Maia, Lourenço, António, Safaei Diba, Chakameh, Zadnik, Vesna, Zagar, Tina, Sánchez-Contador Escudero, Carmen, Franch Sureda, Paula, Lopez de Munain, Arantza, De-La-Cruz, Marta, Rojas, María Dolores, Aleman, Araceli, Vizcaino, Ana, Marcos-Gragera, Rafael, Sanvisens, Arantza, Sanchez, Maria Josè, Chirlaque Lopez, Maria Dolores, Sanchez-Gil, Antonia, Guevara, Marcela, Ardanaz, Eva, Galceran, Jaume, Carulla, Maria, Bergeron, Yvan, Bouchardy, Christine, Mohsen Mousavi, Seyed, Went, Philip, Blum, Marcel, Bordoni, Andrea, Visser, Otto, Stevens, Sarah, Broggio, John, Bennett, Damien, Gavin, Anna, Morrison, David, Huws, Dyfed Wyn, Paapsi, Keiu, Mousavi, Seyed Mohsen, and Sánchez, Maria-Jose

Published
2024
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36. Decoding the historical tale: COVID-19 impact on haematological malignancy patients—EPICOVIDEHA insights from 2020 to 2022

Author

Martín-Vallejo, Francisco Javier, Zdziarski, Przemyslaw, Zarrinfer, Hossein, Wittig, Jana, Win, Sein, Wai-Man, Vivien, Víšek, Benjamín, Vinh, Donald C., Vehreschild, Maria, Varricchio, Gina, Tsirigotis, Panagiotis, Torres-Tienza, Ana, Tanase, Alina Daniela, Tafuri, Agostino, Stamouli, Maria, Sramek, Jiří, Soussain, Carole, Shirinova, Ayten, Schubert, Jörg, Schalk, Enrico, Salehi, Mohammad Reza, Saleh, Modar, Rosati, Giorgio, Roldán, Elisa, Reizine, Florian, Rêgo, Mayara, Regalado-Artamendi, Isabel, Popova, Marina, Pinto, Fernando, Philippe, Laure, Orth, Hans Martin, Ommen, Hans-Beier, Obr, Aleš, Núñez-Martín-Buitrago, Lucía, Noël, Nicolas, Neuhann, Julia, Nadali, Gianpaolo, Nacov, Julia A., Munhoz Alburquerque, Ana M., Mitra, Maria Enza, Mikulska, Malgorzata, Mellinghoff, Sibylle, Mechtel, Ben, Martín-González, Juan-Alberto, Malak, Sandra, Loureiro-Amigo, Jorge, Lorenzo De La Peña, Lisset, Liberti, Giulia, Landau, Marianne, Lacej, Ira, Kolditz, Martin, Kho, Chi Shan, Khedr, Reham Abdelaziz, Karthaus, Meinolf, Karlsson, Linda Katharina, Jiménez-Lorenzo, María-Josefa, Izuzquiza, Macarena, Hoell-Neugebauer, Baerbel, Herbrecht, Raoul, Heath, Christopher H., Guolo, Fabio, Grothe, Jan, Giordano, Antonio, Gerasymchuk, Sergey, García-Sanz, Ramón, García-Poutón, Nicole, Funke, Vaneuza Araújo Moreira, Fung, Monica, Flasshove, Charlotte, Fianchi, Luana, Essame, Jenna, Egger, Matthias, Drenou, Bernard, Dragonetti, Giulia, Desole, Maximilian, Della Pepa, Roberta, Deau Fischer, Bénédicte, De Kort, Elizabeth, De Cabo, Erik, Danion, François, Daguindau, Etienne, Cushion, Tania, Cremer, Louise, Criscuolo, Marianna, Cordini, Gregorio, Cingolani, Antonella, Ciceri, Fabio, Chowdhury, Fazle Rabbi, Chelysheva, Ekaterina, Chauchet, Adrien, Chai, Louis Yi Ann, Ceesay, M. Mansour, Busch, Elena, Brehon, Mathias, Borducchi, Davimar M.M., Booth, Stephen, Bologna, Serge, Berg Venemyr, Caroline, Bailén-Almorox, Rebeca, Antoniadou, Anastasia, Anastasopoulou, Amalia N., Altuntaş, Fevzi, Salmanton-García, Jon, Marchesi, Francesco, Farina, Francesca, Weinbergerová, Barbora, Itri, Federico, Dávila-Valls, Julio, Martín-Pérez, Sonia, Glenthøj, Andreas, Hersby, Ditte Stampe, Gomes Da Silva, Maria, Nunes Rodrigues, Raquel, López-García, Alberto, Córdoba, Raúl, Bilgin, Yavuz M., Falces-Romero, Iker, El-Ashwah, Shaimaa, Emarah, Ziad, Besson, Caroline, Kohn, Milena, Van Doesum, Jaap, Ammatuna, Emanuele, Marchetti, Monia, Labrador, Jorge, Zambrotta, Giovanni Paolo Maria, Verga, Luisa, Jaksic, Ozren, Nucci, Marcio, Piukovics, Klára, Cabirta-Touzón, Alba, Jiménez, Moraima, Arellano, Elena, Espigado, Ildefonso, Blennow, Ola, Nordlander, Anna, Meers, Stef, Vian Praet, Jens, Aiello, Tommaso Francesco, Garcia-Vidal, Carolina, Fracchiolla, Nicola S., Sciumè, Mariarita, Seval, Guldane Cengiz, Žák, Pavel, Buquicchio, Caterina, Tascini, Carlo, Gräfe, Stefanie K., Schönlein, Martin, Adžić-VUKIČEVIĆ, Tatjana, Bonuomo, Valentina, Cattaneo, Chiara, Nizamuddin, Summiya, Čerňan, Martin, Plantefeve, Gaëtan, Prin, Romane, Szotkovski, Tomas, Collins, Graham P., Dargenio, Michelina, Petzer, Verena, Wolf, Dominik, Čolović, Natasha, Prezioso, Lucia, Valković, Toni, Passamonti, Francesco, Méndez, Gustavo-Adolfo, Sili, Uluhan, Vena, Antonio, Bavastro, Martina, Limongelli, Alessandro, Duarte, Rafael F., Ledoux, Marie-Pierre, Cvetanoski, Milche, Stojanoski, Zlate, Machado, Marina, Batinić, Josip, Magliano, Gabriele, Biernat, Monika M., Pantić, Nikola, Poulsen, Christian Bjørn, Cuccaro, Annarosa, Del Principe, Maria Ilaria, Kulasekararaj, Austin, Ormazabal-Vélez, Irati, Busca, Alessandro, Demirkan, Fatih, Ijaz, Marriyam, Klimko, Nikolai, Stoma, Igor, Khostelidi, Sofya, Fernández, Noemí, Omrani, Ali S., Bergantim, Rui, De Jonge, Nick, Fouquet, Guillemette, Navrátil, Milan, Abu-Zeinah, Ghaith, Samarkos, Michail, Maertens, Johan, De Ramón, Cristina, Guidetti, Anna, Magyari, Ferenc, González-López, Tomás José, Lahmer, Tobias, Finizio, Olimpia, Ali, Natasha, Pinczés, László Imre, Lavilla-Rubira, Esperanza, Romano, Alessandra, Merelli, Maria, Delia, Mario, Calbacho, Maria, Meletiadis, Joseph, Antić, Darko, Hernández-Rivas, José-Ángel, Marques De Almeida, Joyce, Al-Khabori, Murtadha, Hoenigl, Martin, Tisi, Maria Chiara, Khanna, Nina, Barać, Aleksandra, Eisa, Noha, Di Blasi, Roberta, Liévin, Raphaël, Miranda-Castillo, Carolina, Bahr, Nathan C., Lamure, Sylvain, Papa, Mario Virgilio, Yahya, Ayel, Aujayeb, Avinash, Novák, Jan, Erben, Nurettin, Fernández-Galán, María, Ribera-Santa Susana, José-María, Rinaldi, Ikhwan, Fazzi, Rita, Piedimonte, Monica, Duléry, Rémy, Gonzaga, Yung, Soto-Silva, Andrés, Sapienza, Giuseppe, Serris, Alexandra, Drgoňa, Ľuboš, Groh, Ana, Serrano, Laura, Gavriilaki, Eleni, Tragiannidis, Athanasios, Prattes, Juergen, Coppola, Nicola, Otašević, Vladimir, Mladenović, Miloš, Mitrović, Mirjana, Mišković, Bojana, Jindra, Pavel, Zompi, Sofia, Sacchi, Maria Vittoria, Krekeler, Carolin, Shumilov, Evgenii, Infante, Maria Stefania, García-Bordallo, Daniel, Çolak, Gökçe Melis, Mayer, Jiří, Nygaard, Marietta, Hanáková, Michaela, Ráčil, Zdeněk, Quattrone, Martina, Bonanni, Matteo, Koehler, Philipp, Rahimli, Laman, Cornely, Oliver A., and Pagano, Livio

Published
2024
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41. COVID-19 infection in adult patients with hematological malignancies: a European Hematology Association Survey (EPICOVIDEHA)

Author

Pagano, Livio, Salmanton-García, Jon, Marchesi, Francesco, Busca, Alessandro, Corradini, Paolo, Hoenigl, Martin, Klimko, Nikolai, Koehler, Philipp, Pagliuca, Antonio, Passamonti, Francesco, Verga, Luisa, Víšek, Benjamin, Ilhan, Osman, Nadali, Gianpaolo, Weinbergerová, Barbora, Córdoba-Mascuñano, Raúl, Marchetti, Monia, Collins, Graham P, Farina, Francesca, Cattaneo, Chiara, Cabirta, Alba, Gomes-Silva, Maria, Itri, Federico, van Doesum, Jaap, Ledoux, Marie-Pierre, Čerňan, Martin, Jakšić, Ozren, Duarte, Rafael F, Magliano, Gabriele, Omrani, Ali S, Fracchiolla, Nicola S, Kulasekararaj, Austin, Valković, Toni, Poulsen, Christian Bjørn, Machado, Marina, Glenthøj, Andreas, Stoma, Igor, Ráčil, Zdeněk, Piukovics, Klára, Navrátil, Milan, Emarah, Ziad, Sili, Uluhan, Maertens, Johan, Blennow, Ola, Bergantim, Rui, García-Vidal, Carolina, Prezioso, Lucia, Guidetti, Anna, del Principe, Maria Ilaria, Popova, Marina, de Jonge, Nick, Ormazabal-Vélez, Irati, Fernández, Noemí, Falces-Romero, Iker, Cuccaro, Annarosa, Meers, Stef, Buquicchio, Caterina, Antić, Darko, Al-Khabori, Murtadha, García-Sanz, Ramón, Biernat, Monika M, Tisi, Maria Chiara, Sal, Ertan, Rahimli, Laman, Čolović, Natasa, Schönlein, Martin, Calbacho, Maria, Tascini, Carlo, Miranda-Castillo, Carolina, Khanna, Nina, Méndez, Gustavo-Adolfo, Petzer, Verena, Novák, Jan, Besson, Caroline, Duléry, Rémy, Lamure, Sylvain, Nucci, Marcio, Zambrotta, Giovanni, Žák, Pavel, Seval, Guldane Cengiz, Bonuomo, Valentina, Mayer, Jiří, López-García, Alberto, Sacchi, Maria Vittoria, Booth, Stephen, Ciceri, Fabio, Oberti, Margherita, Salvini, Marco, Izuzquiza, Macarena, Nunes-Rodrigues, Raquel, Ammatuna, Emanuele, Obr, Aleš, Herbrecht, Raoul, Núñez-Martín-Buitrago, Lucía, Mancini, Valentina, Shwaylia, Hawraa, Sciumè, Mariarita, Essame, Jenna, Nygaard, Marietta, and Batinić, Josip

Subjects
Prevention, Cancer, Lymphoma, Rare Diseases, Hematology, Good Health and Well Being, Adult, Aged, Aged, 80 and over, COVID-19, Europe, Female, Hematologic Neoplasms, Hospitalization, Humans, Intensive Care Units, Male, Middle Aged, Registries, Risk Factors, SARS-CoV-2, Young Adult, Pandemic, Hematological malignancies, Epidemiology, EHA, EPICOVIDEHA working group, Cardiorespiratory Medicine and Haematology, Oncology and Carcinogenesis
Abstract

BackgroundPatients with hematological malignancies (HM) are at high risk of mortality from SARS-CoV-2 disease 2019 (COVID-19). A better understanding of risk factors for adverse outcomes may improve clinical management in these patients. We therefore studied baseline characteristics of HM patients developing COVID-19 and analyzed predictors of mortality.MethodsThe survey was supported by the Scientific Working Group Infection in Hematology of the European Hematology Association (EHA). Eligible for the analysis were adult patients with HM and laboratory-confirmed COVID-19 observed between March and December 2020.ResultsThe study sample includes 3801 cases, represented by lymphoproliferative (mainly non-Hodgkin lymphoma n = 1084, myeloma n = 684 and chronic lymphoid leukemia n = 474) and myeloproliferative malignancies (mainly acute myeloid leukemia n = 497 and myelodysplastic syndromes n = 279). Severe/critical COVID-19 was observed in 63.8% of patients (n = 2425). Overall, 2778 (73.1%) of the patients were hospitalized, 689 (18.1%) of whom were admitted to intensive care units (ICUs). Overall, 1185 patients (31.2%) died. The primary cause of death was COVID-19 in 688 patients (58.1%), HM in 173 patients (14.6%), and a combination of both COVID-19 and progressing HM in 155 patients (13.1%). Highest mortality was observed in acute myeloid leukemia (199/497, 40%) and myelodysplastic syndromes (118/279, 42.3%). The mortality rate significantly decreased between the first COVID-19 wave (March-May 2020) and the second wave (October-December 2020) (581/1427, 40.7% vs. 439/1773, 24.8%, p value

Published
2021

42. Complete cancer prevalence in Europe in 2020 by disease duration and country (EUROCARE-6): a population-based study

Author

Hackl, Monika, Van Eycken, Elizabeth, Van Damme, Nancy, Valerianova, Zdravka, Sekerija, Mario, Scoutellas, Vasos, Demetriou, Anna, Dušek, Ladislav, Krejici, Denisa, Storm, Hans, Mägi, Margit, Innos, Kaire, Pitkäniemi, Janne, Velten, Michel, Troussard, Xavier, Bouvier, Anne-Marie, Jooste, Valerie, Guizard, Anne-Valérie, Launoy, Guy, Dabakuyo Yonli, Sandrine, Maynadié, Marc, Woronoff, Anne-Sophie, Nousbaum, Jean-Baptiste, Coureau, Gaëlle, Monnereau, Alain, Baldi, Isabelle, Hammas, Karima, Tretarre, Brigitte, Colonna, Marc, Plouvier, Sandrine, D'Almeida, Tania, Molinié, Florence, Cowppli-Bony, Anne, Bara, Simona, Debreuve, Adeline, Defossez, Gautier, Lapôtre-Ledoux, Bénédicte, Grosclaude, Pascale, Daubisse-Marliac, Laetitia, Luttmann, Sabine, Stabenow, Roland, Nennecke, Alice, Kieschke, Joachim, Zeissig, Sylke, Holleczek, Bernd, Katalinic, Alexander, Birgisson, Helgi, Murray, Deirdre, Walsh, Paul M., Mazzoleni, Guido, Vittadello, Fabio, Cuccaro, Francesco, Galasso, Rocco, Sampietro, Giuseppe, Rosso, Stefano, Gasparotti, Cinzia, Maifredi, Giovanni, Ferrante, Margherita, Ragusa, Rosalia, Sutera Sardo, Antonella, Gambino, Maria Letizia, Lanzoni, Monica, Ballotari, Paola, Giacomazzi, Erica, Ferretti, Stefano, Caldarella, Adele, Manneschi, Gianfranco, Gatta, Gemma, Sant, Milena, Baili, Paolo, Berrino, Franco, Botta, Laura, Trama, Annalisa, Lillini, Roberto, Bernasconi, Alice, Bonfarnuzzo, Simone, Vener, Claudia, Didonè, Fabio, Lasalvia, Paolo, Buratti, Lucia, Tagliabue, Giovanna, Serraino, Diego, Dal Maso, Luigino, Capocaccia, Riccardo, De Angelis, Roberta, Demuru, Elena, Di Benedetto, Corrado, Rossi, Silvia, Santaquilani, Mariano, Venanzi, Serenella, Tallon, Marco, Boni, Luca, Iacovacci, Silvia, Gennaro, Valerio, Russo, Antonio Giampiero, Gervasi, Federico, Spagnoli, Gianbattista, Cavalieri d'Oro, Luca, Fusco, Mario, Vitale, Maria Francesca, Usala, Mario, Mazzucco, Walter, Michiara, Maria, Chiranda, Giorgio, Cascone, Giuseppe, Giurdanella, Maria Concetta, Mangone, Lucia, Falcini, Fabio, Cavallo, Rossella, Piras, Daniela, Madeddu, Anselmo, Bella, Francesca, Fanetti, Anna Clara, Minerba, Sante, Candela, Giuseppina, Scuderi, Tiziana, Rizzello, Roberto Vito, Stracci, Fabrizio, Rugge, Massimo, Brustolin, Angelita, Pildava, Santa, Smailyte, Giedre, Azzopardi, Miriam, Johannesen, Tom Børge, Didkowska, Joanna, Wojciechowska, Urszula, Bielska-Lasota, Magdalena, Pais, Ana, Bento, Maria José, Calisto, Rita, Lourenço, António, Safaei Diba, Chakameh, Zadnik, Vesna, Zagar, Tina, Sánchez-Contador Escudero, Carmen, Franch Sureda, Paula, Lopez de Munain, Arantza, De-La-Cruz, Marta, Rojas, Marìa Dolores, Aleman, Araceli, Vizcaino, Ana, Marcos-Gragera, Rafael, Sanvisens, Arantza, Sanchez, Maria Josè, Chirlaque Lopez, Maria Dolores, Sanchez-Gil, Antonia, Guevara, Marcela, Ardanaz, Eva, Galceran, Jaume, Carulla, Maria, Bergeron, Yvan, Bouchardy, Christine, Mohsen Mousavi, Seyed, Went, Philip, Blum, Marcel, Bordoni, Andrea, Visser, Otto, Stevens, Sarah, Broggio, John, Bennett, Damien, Gavin, Anna, Morrison, David, Huws, Dyfed Wyn, Ventura, Leonardo, Paapsi, Keiu, Randi, Giorgia, Bettio, Manola, and Guzzinati, Stefano

Published
2024
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43. Bortezomib for rituximab-refractory immune-mediated thrombotic thrombocytopenic purpura in the caplacizumab era: an Italian multicenter study

Author

Giannotta, Juri Alessandro, Artoni, Andrea, Mancini, Ilaria, Agosti, Pasquale, Carpenedo, Monica, Truma, Addolorata, Miri, Syna, Ferrari, Barbara, De Leo, Pasqualina, Salutari, Prassede, Mancini, Giorgia, Molteni, Alfredo, Rinaldi, Ermina, Bocchia, Monica, Napolitano, Mariasanta, Prezioso, Lucia, Cuccaro, Annarosa, Scarpa, Elisabetta, Condorelli, Annalisa, Grimaldi, Daniele, Massaia, Massimo, and Peyvandi, Flora

Published
2024
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44. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

Author

Abali, Saygin, Abali, Zehra Yavas, Akin, Leyla, Almaraz, Maricruz, Audí, Laura, Aydin, Murat, Balsamo, Antonio, Baronio, Federico, Bryce, Jillian, Busiah, Kanetee, Caimari, Maria, Camats-Tarruella, Núria, Campos-Martorell, Ariadna, Castaño, Luis, Casteràs, Anna, Çetinkaya, Semra, Chan, Yee-Ming, Claahsen-van der Grinten, Hedi L., Costa, Ines, Darendeliler, Fatma Feyza, Davies, Justin H., Esteva, Isabel, Fabbri-Scallet, Helena, Finlayson, Courtney A., Garcia, Emilio, Garcia Cuartero, Beatriz, German, Alina, Globa, Evgenia, Guerra-Junior, Gil, Guerrero, Julio, Guran, Tulay, Hannema, Sabine E., Hiort, Olaf, Hirsch, Josephine, Hughes, Leuan, Janner, Marco, Kolesinska, Zofia, Lachlan, Katherine, Lauber-Biason, Anna, Malikova, Jana Krenek, l'Allemand, Dagmar, Lenhnerr-Taube, Nina, Lucas-Herald, Angela, Mammadova, Jamala, MсElreavey, Kenneth, Mericq, Veronica, Mönig, Isabel, Moreno, Francisca, Mührer, Julia, Niedziela, Marek, Nordenstrom, Anna, Orman, Burçe, Poyrazoglu, Sukran, Rial, Jose M., Rutter, Meilan M., Rodríguez, Amaia, Schafer-Kalkhoff, Tara, Sauter, Kay-Sara, Seneviratne, Sumudu Nimali, Sredkova-Ruskova, Maria, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Tomé, Mónica, Vela, Amaia, Wasniewska, Malgorzata, Zangen, David, Zelinska, Nataliya, Kouri, Chrysanthi, Sommer, Grit, Martinez de Lapiscina, Idoia, Elzenaty, Rawda Naamneh, Tack, Lloyd J.W., Cools, Martine, Ahmed, S. Faisal, and Flück, Christa E.

Published
2024
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47. Genetic analyses in multiplex families confirms chromosome 5q35 as a risk locus for Alzheimer’s Disease in individuals of African Ancestry

Author

Nuytemans, Karen, Rajabli, Farid, Jean-Francois, Melissa, Kurup, Jiji Thulaseedhara, Adams, Larry D., Starks, Takiyah D., Whitehead, Patrice L., Kunkle, Brian W., Caban-Holt, Allison, Haines, Jonathan L., Cuccaro, Michael L., Vance, Jeffery M., Byrd, Goldie S., Beecham, Gary W., Reitz, Christiane, and Pericak-Vance, Margaret A.

Published
2024
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49. Impact of a pharmacy-driven MRSA nares screening protocol on vancomycin discontinuation in a tele-antimicrobial stewardship model

Author

Alex M. Trzebucki, Matthew R. Davis, Erin K. McCreary, Susan Cuccaro, J. Ryan Bariola, and Tina Khadem

Subjects
Infectious and parasitic diseases, RC109-216, Public aspects of medicine, RA1-1270
Abstract

A pharmacist-driven protocol for methicillin-resistant Staphylococcus aureus nares screening and empiric vancomycin discontinuation was instituted in a community healthcare system utilizing a tele-antimicrobial stewardship program to reduce inappropriate use of vancomycin. The protocol and associated intervention resulted in a significant decrease in both vancomycin utilization and the rate of acute kidney injury.

Published
2024
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50. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex developmentResearch in context

Author

Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, and Nataliya Zelinska

Subjects
Steroidogenic factor 1 (SF-1/NR5A1), Differences of sex development (DSD), Broad phenotype, Genetics of sex determination and differentiation, Intersex, Medicine, Medicine (General), R5-920
Abstract

Summary: Background: Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes of differences of sex development (DSD), which remain unexplained. Methods: We conducted a retrospective analysis on the so far largest international cohort of individuals with NR5A1/SF-1 variants, identified through the I-DSD registry and a research network. Findings: Among 197 individuals with NR5A1/SF-1 variants, we confirmed diverse phenotypes. Over 70% of 46, XY individuals had a severe DSD phenotype, while 90% of 46, XX individuals had female-typical sex development. Close to 100 different novel and known NR5A1/SF-1 variants were identified, without specific hot spots. Additionally, likely disease-associated variants in other genes were reported in 32 individuals out of 128 tested (25%), particularly in those with severe or opposite sex DSD phenotypes. Interestingly, 48% of these variants were found in known DSD or SF-1 interacting genes, but no frequent gene-clusters were identified. Sex registration at birth varied, with

Published
2024
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