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Amy C Moreno, Erin E Watson, Laia Humbert-Vidan, Douglas E Peterson, Lisanne V van Dijk, Teresa Guerrero Urbano, Lisa Van den Bosch, Andrew J Hope, Matthew S Katz, Frank J P Hoebers, Ruth A Aponte Wesson, James E Bates, Paolo Bossi, Adeyinka F Dayo, Mélanie Doré, Eduardo Rodrigues Fregnani, Thomas J Galloway, Daphna Y Gelblum, Issa A Hanna, Christina E Henson, Sudarat Kiat-Amnuay, Anke Korfage, Nancy Y Lee, Carol M Lewis, Charlotte Duch Lynggaard, Antti A Mäkitie, Marco Magalhaes, Yvonne M Mowery, Carles Muñoz-Montplet, Jeffrey N Myers, Ester Orlandi, Jaymit Patel, Jillian M Rigert, Deborah Saunders, Jonathan D Schoenfeld, Ugur Selek, Efsun Somay, Vinita Takiar, Juliette Thariat, Gerda M Verduijn, Alessandro Villa, Nick West, Max J H Witjes, Alex Won, Mark E Wong, Christopher M K L Yao, Simon W Young, Kamal Al-Eryani, Carly E A Barbon, Doke J M Buurman, François J Dieleman, Theresa M Hofstede, Abdul Ahad Khan, Adegbenga O Otun, John C Robinson, Lauren Hum, Jorgen Johansen, Rajesh Lalla, Alexander Lin, Vinod Patel, Richard J Shaw, Mark S Chambers, Daniel Ma, Mabi Singh, Noam Yarom, Abdallah Sherif Radwan Mohamed, Katherine A Hutcheson, Stephen Y Lai, Clifton David Fuller
PURPOSE: Osteoradionecrosis of the jaw (ORNJ) is a severe iatrogenic disease characterized by bone death after radiation therapy (RT) to the head and neck. With over 9 published definitions and at least 16 diagnostic/staging systems, the true incidence and severity of ORNJ are obscured by lack of a standard for disease definition and severity assessment, leading to inaccurate estimation of incidence, reporting ambiguity, and likely under-diagnosis worldwide. This study aimed to achieve consensus on an explicit definition and phenotype of ORNJ and related precursor states through data standardization to facilitate effective diagnosis, monitoring, and multidisciplinary management of ORNJ...
April 9, 2024: medRxiv
#2
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Elizabeth E Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill A Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna Mm Howson, Stephan J Sanders, Anne O'Donnell-Luria, Nicola Whiffin
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes 1 . Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we identify the non-coding RNA RNU4-2 as a novel syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome 2 . We identify an 18 bp region of RNU4-2 mapping to two structural elements in the U4/U6 snRNA duplex (the T-loop and Stem III) that is severely depleted of variation in the general population, but in which we identify heterozygous variants in 119 individuals with NDD...
April 9, 2024: medRxiv
#3
JOURNAL ARTICLE
Marloes Franssen, Juul Achten, Duncan Appelbe, Matthew L Costa, Susan Dutton, James Mason, Jenny Gould, Andrew Gray, Amar Rangan, Warren Sheehan, Harvinder Singh, Stephen E Gwilym
AIMS: Fractures of the humeral shaft represent 3% to 5% of all fractures. The most common treatment for isolated humeral diaphysis fractures in the UK is non-operative using functional bracing, which carries a low risk of complications, but is associated with a longer healing time and a greater risk of nonunion than surgery. There is an increasing trend to surgical treatment, which may lead to quicker functional recovery and lower rates of fracture nonunion than functional bracing. However, surgery carries inherent risk, including infection, bleeding, and nerve damage...
April 22, 2024: Bone & joint open
#4
JOURNAL ARTICLE
Alternative donor transplantation for severe aplastic anemia: a comparative study of the SAAWP EBMT.
Juan Montoro, Diderik-Jan Eikema, Joe Tuffnell, Victoria Potter, Krzysztof Kałwak, Constantijn Jm Jm Halkes, Alexander Kulagin, Matthew Collin, Robert F Wynn, Stephen Robinson, Emma Nicholson, Henrik Sengeloev, Khalid Halahleh, Elena Skorobogatova, Jaime Sanz, Jakob R Passweg, Stephan Mielke, Samppa Johannes Ryhänen, Ben Carpenter, Tobias Gedde-Dahl, Eleni Tholouli, Renato Fanin, Philippe Lewalle, Austin G Kulasekararaj, Antonio Maria Risitano, Régis Peffault de Latour
Selecting the most suitable alternative donor becomes challenging in severe aplastic anemia (SAA) when a matched sibling donor (MSD) is unavailable. We compared outcomes in SAA patients undergoing SCT from matched unrelated donors (MUD, n=1106), mismatched unrelated donors (MMUD, n=340), and haploidentical donors (Haplo, n=206) registered in the EBMT database (2012-2021). For Haplo-SCT, only those receiving post-transplant cyclophosphamide (PT-Cy) for graft-versus-host disease (GVHD) prophylaxis were included...
April 21, 2024: Blood
#5
JOURNAL ARTICLE
Michael J Tchou, Matt Hall, Jessica L Markham, John R Stephens, Michael J Steiner, Elisha McCoy, Paul L Aronson, Samir S Shah, Matthew J Molloy, Jillian M Cotter
BACKGROUND: Research into low-value routine testing at children's hospitals has not consistently evaluated changing patterns of testing over time. OBJECTIVES: To identify changes in routine laboratory testing rates at children's hospitals over ten years and the association with patient outcomes. DESIGN, SETTINGS, AND PARTICIPANTS: We performed a multi-center, retrospective cohort study of children aged 0-18 hospitalized with common, lower-severity diagnoses at 28 children's hospitals in the Pediatric Health Information Systems database...
April 21, 2024: Journal of Hospital Medicine: An Official Publication of the Society of Hospital Medicine
#6
JOURNAL ARTICLE
James R Berenson, Andrea Limon, Stephanie Rice, Tahmineh Safaie, Ralph Boccia, Honghao Yang, Mehdi Moezi, Stephen Lim, Gary Schwartz, Shahrooz Eshaghian, Matthew Brobeck, Regina Swift, Benjamin M Eades, Sean Bujarski, Yohana Sebhat, Rudra Ray, Susanna Kim, Ashley Del Dosso, Robert Vescio
BACKGROUND: Ruxolitinib (RUX), an orally administered selective Janus kinase 1/2 inhibitor, has received approval for the treatment of myelofibrosis, polycythemia vera, and graft-versus-host disease. We have previously demonstrated the anti-multiple myeloma effects of RUX alone and in combination with the immunomodulatory agent lenalidomide (LEN) and glucocorticosteroids both pre-clinically and clinically. OBJECTIVE: This study aims to evaluate whether LEN can achieve clinical activity among patients with multiple myeloma progressing on the combination of RUX and methylprednisolone (MP)...
April 20, 2024: Targeted Oncology
#7
JOURNAL ARTICLE
Jason J Luke, Diwakar Davar, Robert H Andtbacka, Nina Bhardwaj, Joshua D Brody, Jason Chesney, Robert Coffin, Thierry de Baere, Tanja D de Gruijl, Matthew Fury, Gregory Goldmacher, Kevin J Harrington, Howard Kaufman, Ciara M Kelly, Anuradha D Khilnani, Ke Liu, Sherene Loi, Georgina V Long, Ignacio Melero, Mark Middleton, Bart Neyns, David J Pinato, Rahul A Sheth, Stephen B Solomon, Philippe Szapary, Aurelien Marabelle
BACKGROUND: Intratumorally delivered immunotherapies have the potential to favorably alter the local tumor microenvironment and may stimulate systemic host immunity, offering an alternative or adjunct to other local and systemic treatments. Despite their potential, these therapies have had limited success in late-phase trials for advanced cancer resulting in few formal approvals. The Society for Immunotherapy of Cancer (SITC) convened a panel of experts to determine how to design clinical trials with the greatest chance of demonstrating the benefits of intratumoral immunotherapy for patients with cancers across all stages of pathogenesis...
April 18, 2024: Journal for Immunotherapy of Cancer
#8
JOURNAL ARTICLE
Shaheer U Saeed, João Ramalhinho, Mark Pinnock, Ziyi Shen, Yunguan Fu, Nina Montaña-Brown, Ester Bonmati, Dean C Barratt, Stephen P Pereira, Brian Davidson, Matthew J Clarkson, Yipeng Hu
Supervised machine learning-based medical image computing applications necessitate expert label curation, while unlabelled image data might be relatively abundant. Active learning methods aim to prioritise a subset of available image data for expert annotation, for label-efficient model training. We develop a controller neural network that measures priority of images in a sequence of batches, as in batch-mode active learning, for multi-class segmentation tasks. The controller is optimised by rewarding positive task-specific performance gain, within a Markov decision process (MDP) environment that also optimises the task predictor...
April 16, 2024: Medical Image Analysis
#9
Sheng Shen, Neha Koonjoo, Friderike K Longarino, Leslie R Lamb, Juan C Villa Camacho, Torben P P Hornung, Stephen E Ogier, Susu Yan, Thomas R Bortfeld, Mansi A Saksena, Kathryn E Keenan, Matthew S Rosen
Breast cancer screening is necessary to reduce mortality due to undetected breast cancer. Current methods have limitations, and as a result many women forego regular screening. Magnetic resonance imaging (MRI) can overcome most of these limitations, but access to conventional MRI is not widely available for routine annual screening. Here, we used an MRI scanner operating at ultra-low field (ULF) to image the left breasts of 11 women (mean age, 35 years ±13 years) in the prone position. Three breast radiologists reviewed the imaging and were able to discern the breast outline and distinguish fibroglandular tissue (FGT) from intramammary adipose tissue...
April 4, 2024: medRxiv
#10
JOURNAL ARTICLE
Briony Shaw, Eliza Chung, Cameron Wellard, Edward Yoo, Rory Bennett, Callum Birks, Anna Johnston, Chan Y Cheah, Nada Hamad, Jock Simpson, Allison Barraclough, Matthew Ku, Nicholas Viiala, Sumita Ratnasingam, Tasman Armytage, Tara Cochrane, Geoffrey Chong, Denise Lee, Kate Manos, Colm Keane, Stephanie Wallwork, Stephen Opat, Eliza A Hawkes
Polatuzumab vedotin (Pola) is an approved therapy in combination with rituximab and bendamustine for relapsed or refractory diffuse large B-cell lymphoma (RR-DLBCL) based on positive results of the landmark phase II randomised G029365 trial. However, trial results for many approved novel therapies in RR-DLBCL have not been replicated in routine care cohorts, as RR-DLBCL patient populations are heterogeneous and trial eligibility is increasingly restrictive. We evaluated outcomes from pola ± bendamustine and rituximab in patients with RR-DLBCL enrolled in a compassionate access program with no alternative treatment options identified via the Australasian Lymphoma and Related Diseases Registry according to their eligibility for the original phase II published study...
April 2024: EJHaem
#11
JOURNAL ARTICLE
Chansavath Phetsouphanh, Brendan Jacka, Sara Ballouz, Katherine J L Jackson, Daniel B Wilson, Bikash Manandhar, Vera Klemm, Hyon-Xhi Tan, Adam Wheatley, Anupriya Aggarwal, Anouschka Akerman, Vanessa Milogiannakis, Mitchell Starr, Phillip Cunningham, Stuart G Turville, Stephen J Kent, Anthony Byrne, Bruce J Brew, David R Darley, Gregory J Dore, Anthony D Kelleher, Gail V Matthews
This study investigates the humoral and cellular immune responses and health-related quality of life measures in individuals with mild to moderate long COVID (LC) compared to age and gender matched recovered COVID-19 controls (MC) over 24 months. LC participants show elevated nucleocapsid IgG levels at 3 months, and higher neutralizing capacity up to 8 months post-infection. Increased spike-specific and nucleocapsid-specific CD4+ T cells, PD-1, and TIM-3 expression on CD4+ and CD8+ T cells were observed at 3 and 8 months, but these differences do not persist at 24 months...
April 17, 2024: Nature Communications
#12
JOURNAL ARTICLE
Guangyu Zhang, Yulei He, Van Parsons, Chris Moriarity, Stephen J Blumberg, Benjamin Zablotsky, Aaron Maitland, Matthew D Bramlett, Jonaki Bose
The National Health Interview Survey (NHIS), conducted by the National Center for Health Statistics since 1957, is the principal source of information on the health of the U.S. civilian noninstitutionalized population. NHIS selects one adult (Sample Adult) and, when applicable, one child (Sample Child) randomly within a family (through 2018) or a household (2019 and forward). Sampling weights for the separate analysis of data from Sample Adults and Sample Children are provided annually by the National Center for Health Statistics...
April 2024: Vital and Health Statistics. Ser. 1, Programs and Collection Procedures
#13
JOURNAL ARTICLE
Jay Desai, Sujay Rajkumar, Matthew J Shepard, John Herbst, Stephen M Karlovits, Shakir Hasan, Zachary D Horne, Rodney E Wegner
PURPOSE: Diffuse midline gliomas (DMG) include all midline gliomas with a point mutation to the histone H3 gene resulting in the substitution of a lysine with a methionine (K27M). These tumors are classified as World Health Organization grade 4 with a mean survival between 9- and 19-months following diagnosis. There is currently no standard of care for DMG, and palliative radiation therapy has been proven to only extend survival by months. Our current study aims to report current treatment trends and predictors of the overall survival of DMG...
April 17, 2024: Journal of Neuro-oncology
#14
JOURNAL ARTICLE
William G Wierda, Jennifer Brown, Jeremy S Abramson, Farrukh Awan, Syed F Bilgrami, Greg Bociek, Danielle Brander, Matthew Cortese, Larry Cripe, Randall S Davis, Herbert Eradat, Bita Fakhri, Christopher D Fletcher, Sameh Gaballa, Muhammad Saad Hamid, Brian Hill, Paul Kaesberg, Brad Kahl, Manali Kamdar, Thomas J Kipps, Shuo Ma, Claudio Mosse, Shazia Nakhoda, Sameer Parikh, Andrew Schorr, Stephen Schuster, Madhav Seshadri, Tanya Siddiqi, Deborah M Stephens, Meghan Thompson, Chaitra Ujjani, Riccardo Valdez, Nina Wagner-Johnston, Jennifer A Woyach, Hema Sundar, Mary Dwyer
Chronic lymphocytic leukemia (CLL) and small lymphocytic lymphoma (SLL) are essentially different manifestations of the same disease that are similarly managed. A number of molecular and cytogenetic variables with prognostic implications have been identified. Undetectable minimal residual disease at the end of treatment with chemoimmunotherapy or venetoclax-based combination regimens is an independent predictor of improved survival among patients with previously untreated or relapsed/refractory CLL/SLL. The selection of treatment is based on the disease stage, presence or absence of del(17p) or TP53 mutation, immunoglobulin heavy chain variable region mutation status, patient age, performance status, comorbid conditions, and the agent's toxicity profile...
April 2024: Journal of the National Comprehensive Cancer Network: JNCCN
#15
JOURNAL ARTICLE
Stephen Bresnick, Carlito Lagman, Susie Morris, Shayna Bresnick, Matthew Robbins
BACKGROUND: Anxiety disorders, both with and without comorbid depression, are widespread globally. This study investigates the intersection of anxiety, depression, and self-reported Breast Implant Illness (BII) in women undergoing aesthetic breast surgery. OBJECTIVES: The objective of our research is to enhance understanding about mental health history, psychotropic medication use, and its relation to BII symptoms. METHODS: A cohort of 240 consecutive female patients undergoing elective breast surgery was studied...
April 16, 2024: Aesthetic Surgery Journal
#16
Lee A Armstrong, Sven M Lange, Virginia De Cesare, Stephen P Matthews, Raja Sekhar Nirujogi, Isobel Cole, Anthony Hope, Fraser Cunningham, Rachel Toth, Rukmini Mukherjee, Denisa Bojkova, Franz Gruber, David Gray, Paul G Wyatt, Jindrich Cinatl, Ivan Dikic, Paul Davies, Yogesh Kulathu
[This corrects the article DOI: 10.1371/journal.pone.0253364.].
2024: PloS One
#17
JOURNAL ARTICLE
David J Eldridge, Jingyi Ding, Josh Dorrough, Manuel Delgado-Baquerizo, Osvaldo Sala, Nicolas Gross, Yoann Le Bagousse-Pinguet, Max Mallen-Cooper, Hugo Saiz, Sergio Asensio, Victoria Ochoa, Beatriz Gozalo, Emilio Guirado, Miguel García-Gómez, Enrique Valencia, Jaime Martínez-Valderrama, César Plaza, Mehdi Abedi, Negar Ahmadian, Rodrigo J Ahumada, Julio M Alcántara, Fateh Amghar, Luísa Azevedo, Farah Ben Salem, Miguel Berdugo, Niels Blaum, Bazartseren Boldgiv, Matthew Bowker, Donaldo Bran, Chongfeng Bu, Rafaella Canessa, Andrea P Castillo-Monroy, Ignacio Castro, Patricio Castro-Quezada, Simone Cesarz, Roukaya Chibani, Abel Augusto Conceição, Anthony Darrouzet-Nardi, Yvonne C Davila, Balázs Deák, Paloma Díaz-Martínez, David A Donoso, Andrew David Dougill, Jorge Durán, Nico Eisenhauer, Hamid Ejtehadi, Carlos Ivan Espinosa, Alex Fajardo, Mohammad Farzam, Ana Foronda, Jorgelina Franzese, Lauchlan H Fraser, Juan Gaitán, Katja Geissler, Sofía Laura Gonzalez, Elizabeth Gusman-Montalvan, Rosa Mary Hernández, Norbert Hölzel, Frederic Mendes Hughes, Oswaldo Jadan, Anke Jentsch, Mengchen Ju, Kudzai F Kaseke, Melanie Köbel, Anika Lehmann, Pierre Liancourt, Anja Linstädter, Michelle A Louw, Quanhui Ma, Mancha Mabaso, Gillian Maggs-Kölling, Thulani P Makhalanyane, Oumarou Malam Issa, Eugene Marais, Mitchel McClaran, Betty Mendoza, Vincent Mokoka, Juan P Mora, Gerardo Moreno, Seth Munson, Alice Nunes, Gabriel Oliva, Gastón R Oñatibia, Brooke Osborne, Guadalupe Peter, Margerie Pierre, Yolanda Pueyo, R Emiliano Quiroga, Sasha Reed, Ana Rey, Pedro Rey, Víctor Manuel Reyes Gómez, Víctor Rolo, Matthias C Rillig, Peter C le Roux, Jan Christian Ruppert, Ayman Salah, Phokgedi Julius Sebei, Anarmaa Sharkhuu, Ilan Stavi, Colton Stephens, Alberto L Teixido, Andrew David Thomas, Katja Tielbörger, Silvia Torres Robles, Samantha Travers, Orsolya Valkó, Liesbeth van den Brink, Frederike Velbert, Andreas von Heßberg, Wanyoike Wamiti, Deli Wang, Lixin Wang, Glenda M Wardle, Laura Yahdjian, Eli Zaady, Yuanming Zhang, Xiaobing Zhou, Fernando T Maestre
Perennial plants create productive and biodiverse hotspots, known as fertile islands, beneath their canopies. These hotspots largely determine the structure and functioning of drylands worldwide. Despite their ubiquity, the factors controlling fertile islands under conditions of contrasting grazing by livestock, the most prevalent land use in drylands, remain virtually unknown. Here we evaluated the relative importance of grazing pressure and herbivore type, climate and plant functional traits on 24 soil physical and chemical attributes that represent proxies of key ecosystem services related to decomposition, soil fertility, and soil and water conservation...
April 12, 2024: Nature Plants
#18
JOURNAL ARTICLE
Stephen H Bradley, Bethany Shinkins, Gary Abel, Matthew E J Callister
No abstract text is available yet for this article.
April 10, 2024: Journal of Clinical Epidemiology
#19
JOURNAL ARTICLE
Rendy Ruvindy, Penelope A Ajani, Sereena Ashlin, Gustaaf Hallegraeff, Kerstin Klemm, Christopher J Bolch, Sarah Ugalde, Mark Van Asten, Stephen Woodcock, Matthew Tesoriero, Shauna A Murray
Paralytic shellfish toxins (PSTs) produced by marine dinoflagellates significantly impact shellfish industries worldwide. Early detection on-farm and with minimal training would allow additional time for management decisions to minimize economic losses. Here, we describe and test a standardized workflow based on the detection of sxtA4 , an initial gene in the biosynthesis of PSTs. The workflow is simple and inexpensive and does not require a specialized laboratory. It consists of (1) water collection and filtration using a custom gravity sampler, (2) buffer selection for sample preservation and cell lysis for DNA, and (3) an assay based on a region of sxtA , DinoDtec lyophilized quantitative polymerase chain reaction (qPCR) assay...
April 12, 2024: Environmental Science & Technology
#20
JOURNAL ARTICLE
Ruhee D'Cunha, Matthew Otten, Matthew R Hermes, Laura Gagliardi, Stephen K Gray
State preparation for quantum algorithms is crucial for achieving high accuracy in quantum chemistry and competing with classical algorithms. The localized active space-unitary coupled cluster (LAS-UCC) algorithm iteratively loads a fragment-based multireference wave function onto a quantum computer. In this study, we compare two state preparation methods, quantum phase estimation (QPE) and direct initialization (DI), for each fragment. We test the two state preparation methods on three systems, ranging from a model system, a set of interacting hydrogen molecules, to more realistic chemical problems, like the C-C double bond breaking in transbutadiene and the spin ladder in a bimetallic system...
April 12, 2024: Journal of Chemical Theory and Computation
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