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JOURNAL ARTICLE
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh K Gupta, Thomas Attard, Maimoona A Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R Fassad, David A Parry, Peter A Tennant, Alison Meynert, Gabrielle Wheway, Lucas Fares-Taie, Holly A Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A Mohamed, Stuart Aitken, Philippe Gautier, Finn R Reinholt, Robert A Hirst, Chris O'Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin W Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew Rogers, Jennifer A Wambach, Daniel J Wegner, Anne B Fulton, Margaret Kenna, Margaret Rosenfeld, Ingrid A Holm, Alan Quigley, Emma A Hall, Laura C Murphy, Diane M Cassidy, Alex von Kriegsheim, Jean-François Papon, Laurent Pasquier, Marlène S Murris, James D Chalmers, Claire Hogg, Kenneth A Macleod, Don S Urquhart, Stefan Unger, Timothy J Aitman, Serge Amselem, Margaret W Leigh, Michael R Knowles, Heymut Omran, Hannah M Mitchison, Alan Brown, Joseph A Marsh, Julie P I Welburn, Shih-Chieh Ti, Amjad Horani, Jean-Michel Rozet, Isabelle Perrault, Pleasantine Mill
Tubulin, one of the most abundant cytoskeletal building blocks, has numerous isotypes in metazoans encoded by different conserved genes. Whether these distinct isotypes form cell type- and context-specific microtubule structures is poorly understood. Based on a cohort of 12 patients with primary ciliary dyskinesia as well as mouse mutants, we identified and characterized variants in the TUBB4B isotype that specifically perturbed centriole and cilium biogenesis. Distinct TUBB4B variants differentially affected microtubule dynamics and cilia formation in a dominant-negative manner...
April 26, 2024: Science
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JOURNAL ARTICLE
Andreia Vasconcelos, Jonathan D King, Cláudio Nunes-Alves, Roy Anderson, Daniel Argaw, Maria-Gloria Basáñez, Shakir Bilal, David J Blok, Seth Blumberg, Anna Borlase, Oliver J Brady, Raiha Browning, Nakul Chitnis, Luc E Coffeng, Emily H Crowley, Zulma M Cucunubá, Derek A T Cummings, Christopher Neil Davis, Emma Louise Davis, Matthew Dixon, Andrew Dobson, Louise Dyson, Michael French, Claudio Fronterre, Emanuele Giorgi, Ching-I Huang, Saurabh Jain, Ananthu James, Sung Hye Kim, Klodeta Kura, Ana Lucianez, Michael Marks, Pamela Sabina Mbabazi, Graham F Medley, Edwin Michael, Antonio Montresor, Nyamai Mutono, Thumbi S Mwangi, Kat S Rock, Martha-Idalí Saboyá-Díaz, Misaki Sasanami, Markus Schwehm, Simon E F Spencer, Ariktha Srivathsan, Robert S Stawski, Wilma A Stolk, Samuel A Sutherland, Louis-Albert Tchuem Tchuenté, Sake J de Vlas, Martin Walker, Simon J Brooker, T Déirdre Hollingsworth, Anthony W Solomon, Ibrahima Socé Fall
Over the past decade, considerable progress has been made in the control, elimination, and eradication of neglected tropical diseases (NTDs). Despite these advances, most NTD programs have recently experienced important setbacks; for example, NTD interventions were some of the most frequently and severely impacted by service disruptions due to the coronavirus disease 2019 (COVID-19) pandemic. Mathematical modeling can help inform selection of interventions to meet the targets set out in the NTD road map 2021-2030, and such studies should prioritize questions that are relevant for decision-makers, especially those designing, implementing, and evaluating national and subnational programs...
April 25, 2024: Clinical Infectious Diseases
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JOURNAL ARTICLE
Lingzhi 灵芝 Wang王, Maokai Hu, Lifan Wang, Yi 轶 Yang 杨, Jiawen Yang, Haley Gomez, Sijie Chen, Lei Hu, Ting-Wan Chen, Jun Mo, Xiaofeng Wang, Dietrich Baade, Peter Hoeflich, J Craig Wheeler, Giuliano Pignata, Jamison Burke, Daichi Hiramatsu, D Andrew Howell, Curtis McCully, Craig Pellegrino, Lluís Galbany, Eric Y Hsiao, David J Sand, Jujia Zhang, Syed A Uddin, J P Anderson, Chris Ashall, Cheng Cheng, Mariusz Gromadzki, Cosimo Inserra, Han Lin, N Morrell, Antonia Morales-Garoffolo, T E Müller-Bravo, Matt Nicholl, Estefania Padilla Gonzalez, M M Phillips, J Pineda-García, Hanna Sai, Mathew Smith, M Shahbandeh, Shubham Srivastav, M D Stritzinger, Sheng Yang, D R Young, Lixin Yu, Xinghan Zhang
Dust associated with various stellar sources in galaxies at all cosmic epochs remains a controversial topic, particularly whether supernovae play an important role in dust production. We report evidence of dust formation in the cold, dense shell behind the ejecta-circumstellar medium (CSM) interaction in the Type Ia-CSM supernova (SN) 2018evt three years after the explosion, characterized by a rise in mid-infrared emission accompanied by an accelerated decline in the optical radiation of the SN. Such a dust-formation picture is also corroborated by the concurrent evolution of the profiles of the Hα emission line...
2024: Nature Astronomy
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JOURNAL ARTICLE
Michael P Anderson, David Bard
No abstract text is available yet for this article.
April 18, 2024: Journal of Pediatrics
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JOURNAL ARTICLE
Madison R Baker, Andrew J Niehaus, Matt D Miesner, Joseph W Lozier, Brianna A Jordan, Michelle K Carman, Jennifer Clark, David E Anderson
OBJECTIVE: To examine the prevalence of nasolacrimal duct (NLD) obstruction in hospital populations and assess signalment, diagnostics, and clinical approaches for alpacas and llamas diagnosed with NLD atresia or obstruction. ANIMALS: 29 alpacas and 2 llamas. CLINICAL PRESENTATION: Medical records were reviewed to identify camelids with NLD evaluated between 2000 and 2023. Signalment, history, physical examination data, diagnosis, and treatments were recorded...
April 19, 2024: Journal of the American Veterinary Medical Association
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JOURNAL ARTICLE
Vivian Salama, Sara Youssef, Tianlin Xu, Kareem A Wahid, Jaime Chen, Jillian Rigert, Anna Lee, Katherine A Hutcheson, Brandon Gunn, Jack Phan, Adam S Garden, Steven J Frank, William Morrison, Jay P Reddy, Michael T Spiotto, Mohamed A Naser, Cem Dede, Renjie He, Abdallah S R Mohamed, Lisanne V van Dijk, Ruitao Lin, Carlos J Roldan, David I Rosenthal, Clifton D Fuller, Amy C Moreno
OBJECTIVES: Pain during Radiation Therapy (RT) for oral cavity/oropharyngeal cancer (OC/OPC) is a clinical challenge due to its multifactorial etiology and variable management. The objective of this study was to define complex pain profiles through temporal characterization of pain descriptors, physiologic state, and RT-induced toxicities for pain trajectories understanding. MATERIALS AND METHODS: Using an electronic health record registry, 351 OC/OPC patients treated with RT from 2013 to 2021 were included...
September 2023: Oral Oncol Rep
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JOURNAL ARTICLE
Julianne Gee, Tom T Shimabukuro, John R Su, David Shay, Margaret Ryan, Sridhar V Basavaraju, Karen R Broder, Matthew Clark, C Buddy Creech, Francesca Cunningham, Kristin Goddard, Harrison Guy, Kathryn M Edwards, Richard Forshee, Tanya Hamburger, Anne M Hause, Nicola P Klein, Ian Kracalik, Chris Lamer, David A Loran, Michael M McNeil, Jay Montgomery, Pedro Moro, Tanya R Myers, Christine Olson, Matthew E Oster, Andrea J Sharma, Ryan Schupbach, Eric Weintraub, Brett Whitehead, Steven Anderson
The U.S. COVID-19 vaccination program, which commenced in December 2020, has been instrumental in preventing morbidity and mortality from COVID-19 disease. Safety monitoring has been an essential component of the program. The federal government undertook a comprehensive and coordinated approach to implement complementary safety monitoring systems and to communicate findings in a timely and transparent way to healthcare providers, policymakers, and the public. Monitoring involved both well-established and newly developed systems that relied on both spontaneous (passive) and active surveillance methods...
April 16, 2024: Vaccine
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JOURNAL ARTICLE
Michelle L Gatton, David Smith, Cielo Pasay, Karen Anderson, Selam Mihreteab, Hugo O Valdivia, Juan F Sanchez, Khalid B Beshir, Jane Cunningham, Qin Cheng
OBJECTIVES: Accuracy of malaria rapid diagnostic tests is threatened by Plasmodium falciparum with pfhrp2/3 deletions. This study compares gene deletion prevalence determined by multiplex qPCR and conventional PCR (cPCR) using existing samples with clonality previously determined by microsatellite genotyping. METHODS: Multiplex qPCR was used to estimate prevalence of pfhrp2/3 deletions in three sets of previously collected patient samples from Eritrea and Peru. The qPCR was validated by multiplex digital PCR...
April 15, 2024: International Journal of Infectious Diseases: IJID
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JOURNAL ARTICLE
Kevin Brady, David Bailey, Ryan Anderson, Peter Kwon, Daniel Browne, Rodrigo R Amaral
INTRODUCTION: This ex vivo study evaluated the accuracy of the Electronic Apex Locator (EAL) and Automatic Apical Stop (AAS) functions of the E-Connect S+ and Morita Tri Auto ZX2+ cordless apex locators in determining patency length. METHODS: 64 human teeth with a single root were randomly allocated into E-connect or Morita groups (n = 32). The canals were accessed and pre-flared, after which a size 15 K-file was inserted into the canal to the major foramen and recorded as the actual length (AL)...
April 15, 2024: Journal of Endodontics
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JOURNAL ARTICLE
Luigi Asmundo, Valentina Ambrosini, Mark A Anderson, Stefano Fanti, William R Bradley, Davide Campana, Amirkasra Mojtahed, Ryan Chung, Shaunagh Mcdermott, Subba Digumarthy, Stephan Ursprung, Konstantin Nikolau, Florian J Fintelmann, Michael Blake, Carlos Fernandez-Del Castillo, Motaz Qadan, Ankur Pandey, Jeffrey W Clark, Onofrio A Catalano
Neuroendocrine neoplasms (NENs) are rare neoplasms originating from neuroendocrine cells, with increasing incidence due to enhanced detection methods. These tumors display considerable heterogeneity, necessitating diverse management strategies based on factors like organ of origin and tumor size. This article provides a comprehensive overview of therapeutic approaches for NENs, emphasizing the role of imaging in treatment decisions. It categorizes tumors based on their locations: gastric, duodenal, pancreatic, small bowel, colonic, rectal, appendiceal, gallbladder, prostate, lung, gynecological, and others...
April 15, 2024: Journal of Computer Assisted Tomography
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JOURNAL ARTICLE
Chika Nwachukwu, Sukh Makhnoon, Marieshia Person, Meera Muthukrishnan, Syed Kazmi, Larry D Anderson, Gurbakhash Kaur, Kandice A Kapinos, Erin L Williams, Oluwatomilade Fatunde, Navid Sadeghi, Fabian Robles, Alice Basey, Thomas Hulsey, Sandi L Pruitt, David E Gerber
Involving diverse populations in early-phase (phase I and II) cancer clinical trials is critical to informed therapeutic development. However, given the growing costs and complexities of early-phase trials, trial activation and enrollment barriers may be greatest for these studies at healthcare facilities that provide care to the most diverse patient groups, including those in historically underserved communities (e.g., safety-net healthcare systems). To promote diverse and equitable access to early-phase cancer clinical trials, we are implementing a novel program for the transfer of care to enhance access to early-phase cancer clinical trials...
June 2024: Contemporary Clinical Trials Communications
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JOURNAL ARTICLE
Jeffrey Baker, Negar Aliabadi, Iona Munjal, Qin Jiang, Ye Feng, Linda G Brock, David Cooper, Annaliesa S Anderson, Kena A Swanson, William C Gruber, Alejandra Gurtman
BACKGROUND: Bivalent RSV prefusion F subunit vaccine (RSVpreF), comprised of equal quantities of stabilized prefusion F antigens from the major circulating subgroups (RSV A, RSV B), is licensed for prevention of RSV-associated lower respiratory tract illness (LRTI) in older adults and for maternal vaccination for prevention of RSV-associated LRTI in infants. To support licensure and large-scale manufacturing, this lot consistency study was conducted to demonstrate equivalence in immunogenicity across 3 RSVpreF lots...
April 13, 2024: Vaccine
#13
JOURNAL ARTICLE
Travis S CreveCoeur, Rajiv R Iyer, Hannah E Goldstein, Mychael W Delgardo, Todd C Hankinson, Mark A Erickson, Sumeet Garg, David L Skaggs, Lindsay Andras, Benjamin C Kennedy, Patrick J Cahill, Lawrence G Lenke, Peter D Angevine, Benjamin D Roye, Michael G Vitale, Anil Mendiratta, Richard C E Anderson
BACKGROUND CONTEXT: Intraoperative neurophysiological monitoring (IONM) is used to reduce the risk of spinal cord injury during pediatric spinal deformity surgery. Significant reduction and/or loss of IONM signals without immediate recovery may lead the surgeon to acutely abort the case. The timing of when monitorable signals return remains largely unknown. PURPOSE: The goal of this study was to investigate the correlation between IONM signal loss, clinical examination, and subsequent normalization of IONM signals after aborted pediatric spinal deformity surgery to help determine when it is safe to return to the operating room...
April 11, 2024: Spine Journal: Official Journal of the North American Spine Society
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JOURNAL ARTICLE
Cameron D Thomas, Francesco Franchi, Joseph S Rossi, Ellen C Keeley, R David Anderson, Amber L Beitelshees, Julio D Duarte, Luis Ortega-Paz, Yan Gong, Richard A Kerensky, Natasha Kulick, Caitrin W McDonough, Anh B Nguyen, Yehua Wang, Marshall Winget, William E Yang, Julie A Johnson, Almut G Winterstein, George A Stouffer, Dominick J Angiolillo, Craig R Lee, Larisa H Cavallari
BACKGROUND: An ABCD-GENE (age, body mass index, chronic kidney disease, diabetes, and CYP2C19 genetic variants) score ≥10 predicts reduced clopidogrel effectiveness, but its association with response to alternative therapy remains unclear. OBJECTIVES: The aim of this study was to evaluate the association between ABCD-GENE score and the effectiveness of clopidogrel vs alternative P2Y12 inhibitor (prasugrel or ticagrelor) therapy after percutaneous coronary intervention (PCI)...
April 16, 2024: Journal of the American College of Cardiology
#15
JOURNAL ARTICLE
Jacopo Pasquini, Michael J Firbank, Laura Best, Victoria Foster, Debra Galley, Vincenzo Silani, Roberto Ceravolo, George Petrides, David J Brooks, Kirstie N Anderson, Nicola Pavese
OBJECTIVE: To investigate hypothalamic atrophy and its clinical correlates in multiple system atrophy (MSA) in-vivo. BACKGROUND: MSA is characterized by autonomic dysfunction and parkinsonian/cerebellar manifestations. The hypothalamus regulates autonomic and homeostatic functions and is also involved in memory and learning processes. METHODS: 11 MSA, 18 Parkinson's Disease (PD) and 18 Healthy Controls (HC) were included in this study. A validated and automated hypothalamic segmentation tool was applied to 3D-T1-weighted images acquired on a 3T MRI scanner...
April 2, 2024: Journal of the Neurological Sciences
#16
JOURNAL ARTICLE
Tony Zhang, Andrew Chancellor, Bernard Liem, Clinton Turner, David Hutchinson, Edward Wong, Emma Glamuzina, Jae Beom Hong, James Cleland, Nicholas Child, Richard H Roxburgh, Shilpan Patel, Yi-Chung Lee, Yi-Chu Liao, Neil E Anderson
Neuronal intranuclear inclusion disease, caused by a GGC repeat expansion in the 5'-untranslated region of NOTCH2NLC, is a rare neurodegenerative condition with highly variable clinical manifestations. In recent years, the number of reported cases have increased dramatically in East Asia. We report the first four genetically confirmed cases of neuronal intranuclear inclusion disease in New Zealand, all having Polynesian ancestry (three New Zealand Māori and one Cook Island Māori). Phenotypically, they resemble cases reported from recent large East Asian cohorts...
April 3, 2024: Journal of the Neurological Sciences
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JOURNAL ARTICLE
Alexander T Yahanda, Joyce Koueik, Laurie L Ackerman, P David Adelson, Gregory W Albert, Philipp R Aldana, Tord D Alden, Richard C E Anderson, David F Bauer, Tammy Bethel-Anderson, Karin Bierbrauer, Douglas L Brockmeyer, Joshua J Chern, Daniel E Couture, David J Daniels, Brian J Dlouhy, Susan R Durham, Richard G Ellenbogen, Ramin Eskandari, Herbert E Fuchs, Gerald A Grant, Patrick C Graupman, Stephanie Greene, Jeffrey P Greenfield, Naina L Gross, Daniel J Guillaume, Todd C Hankinson, Gregory G Heuer, Mark Iantosca, Bermans J Iskandar, Eric M Jackson, George I Jallo, James M Johnston, Bruce A Kaufman, Robert F Keating, Nickalus R Khan, Mark D Krieger, Jeffrey R Leonard, Cormac O Maher, Francesco T Mangano, Jonathan Martin, J Gordon McComb, Sean D McEvoy, Thanda Meehan, Arnold H Menezes, Michael S Muhlbauer, Brent R O'Neill, Greg Olavarria, John Ragheb, Nathan R Selden, Manish N Shah, Chevis N Shannon, Joshua S Shimony, Matthew D Smyth, Scellig S D Stone, Jennifer M Strahle, Mandeep S Tamber, James C Torner, Gerald F Tuite, Elizabeth C Tyler-Kabara, Scott D Wait, John C Wellons, William E Whitehead, Tae Sung Park, David D Limbrick, Raheel Ahmed
OBJECTIVE: Congenital anomalies of the atlanto-occipital articulation may be present in patients with Chiari malformation type I (CM-I). However, it is unclear how these anomalies affect the biomechanical stability of the craniovertebral junction (CVJ) and whether they are associated with an increased incidence of occipitocervical fusion (OCF) following posterior fossa decompression (PFD). The objective of this study was to determine the prevalence of condylar hypoplasia and atlas anomalies in children with CM-I and syringomyelia...
April 5, 2024: Journal of Neurosurgery. Pediatrics
#18
JOURNAL ARTICLE
David A Skerrett-Byrne, Simone J Stanger, Natalie A Trigg, Amanda L Anderson, Petra Sipilä, Ilana R Bernstein, Tessa Lord, John E Schjenken, Heather C Murray, Nicole M Verrills, Matthew D Dun, Terence Y Pang, Brett Nixon
BACKGROUND: The epididymis has long been of interest owing to its role in promoting the functional maturation of the male germline. More recent evidence has also implicated the epididymis as an important sensory tissue responsible for remodeling of the sperm epigenome, both under physiological conditions and in response to diverse forms of environmental stress. Despite this knowledge, the intricacies of the molecular pathways involved in regulating the adaptation of epididymal tissue to paternal stressors remains to be fully resolved...
April 4, 2024: Andrology
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JOURNAL ARTICLE
Paolo Cadinu, Kisha N Sivanathan, Aditya Misra, Rosalind J Xu, Davide Mangani, Evan Yang, Joseph M Rone, Katherine Tooley, Yoon-Chul Kye, Lloyd Bod, Ludwig Geistlinger, Tyrone Lee, Randall T Mertens, Noriaki Ono, Gang Wang, Liliana Sanmarco, Francisco J Quintana, Ana C Anderson, Vijay K Kuchroo, Jeffrey R Moffitt, Roni Nowarski
Gut inflammation involves contributions from immune and non-immune cells, whose interactions are shaped by the spatial organization of the healthy gut and its remodeling during inflammation. The crosstalk between fibroblasts and immune cells is an important axis in this process, but our understanding has been challenged by incomplete cell-type definition and biogeography. To address this challenge, we used multiplexed error-robust fluorescence in situ hybridization (MERFISH) to profile the expression of 940 genes in 1...
April 1, 2024: Cell
#20
JOURNAL ARTICLE
Edward Lloyd Briercheck, J Michael Wrigglesworth, Ines Garcia-Gonzalez, Catherina Scheepers, Mei Ching Ong, Viji Venkatesh, Philip Stevenson, Alicia A Annamalay, David G Coffey, Aparna B Anderson, Pat Garcia-Gonzalez, Michael J Wagner
IMPORTANCE: Gastrointestinal stromal tumor (GIST) is a rare cancer treated with the tyrosine kinase inhibitors imatinib mesylate or sunitinib malate. In general, in low- and middle-income countries (LMICs), access to these treatments is limited. OBJECTIVE: To describe the demographic characteristics, treatment duration, and survival of patients with GIST in LMICs treated with imatinib and sunitinib through The Max Foundation programs. DESIGN, SETTING, AND PARTICIPANTS: This retrospective database cohort analysis included patients in 2 access programs administered by The Max Foundation: the Glivec International Patient Assistance Program (GIPAP), from January 1, 2001, to December 31, 2016, and the Max Access Solutions (MAS) program, January 1, 2017, to October 12, 2020...
April 1, 2024: JAMA Network Open
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