keyword
https://read.qxmd.com/read/38587501/design-and-quality-control-of-large-scale-two-sample-mendelian-randomization-studies
#1
JOURNAL ARTICLE
Philip C Haycock, Maria Carolina Borges, Kimberley Burrows, Rozenn N Lemaitre, Sean Harrison, Stephen Burgess, Xuling Chang, Jason Westra, Nikhil K Khankari, Kostas K Tsilidis, Tom Gaunt, Gibran Hemani, Jie Zheng, Therese Truong, Tracy A O'Mara, Amanda B Spurdle, Matthew H Law, Susan L Slager, Brenda M Birmann, Fatemeh Saberi Hosnijeh, Daniela Mariosa, Christopher I Amos, Rayjean J Hung, Wei Zheng, Marc J Gunter, George Davey Smith, Caroline Relton, Richard M Martin
BACKGROUND: Mendelian randomization (MR) studies are susceptible to metadata errors (e.g. incorrect specification of the effect allele column) and other analytical issues that can introduce substantial bias into analyses. We developed a quality control (QC) pipeline for the Fatty Acids in Cancer Mendelian Randomization Collaboration (FAMRC) that can be used to identify and correct for such errors. METHODS: We collated summary association statistics from fatty acid and cancer genome-wide association studies (GWAS) and subjected the collated data to a comprehensive QC pipeline...
October 2023: International Journal of Epidemiology
https://read.qxmd.com/read/38563821/the-national-healthcare-safety-network-s-digital-quality-measures-cdc-s-automated-measures-for-surveillance-of-patient-safety
#2
JOURNAL ARTICLE
Nadine Shehab, Liora Alschuler, Sean McILvenna, Zabrina Gonzaga, Andrew Laing, David deRoode, Raymund B Dantes, Kristina Betz, Shuai Zheng, Sheila Abner, Elizabeth Stutler, Rick Geimer, Andrea L Benin
OBJECTIVE: This article presents the National Healthcare Safety Network (NHSN)'s approach to automation for public health surveillance using digital quality measures (dQMs) via an open-source tool (NHSNLink) and piloting of this approach using real-world data in a newly established collaborative program (NHSNCoLab). The approach leverages Health Level Seven Fast Healthcare Interoperability Resources (FHIR) application programming interfaces to improve data collection and reporting for public health and patient safety beginning with common, clinically significant, and preventable patient harms, such as medication-related hypoglycemia, healthcare facility-onset Clostridioides difficile infection, and healthcare-associated venous thromboembolism...
April 2, 2024: Journal of the American Medical Informatics Association: JAMIA
https://read.qxmd.com/read/38441247/analytical-validation-of-a-telomerase-reverse-transcriptase-tert-promoter-mutation-assay
#3
JOURNAL ARTICLE
Priyanka C Iyer, Ramona Dadu, Anna Barque, Cleslei Zanelli, Xingyu Zheng, Huimin Jiang, P Sean Walsh, Yangyang Hao, Jing Huang, Joshua Klopper, Richard T Kloos, Maria Cabanillas
CONTEXT: TERT promoter mutated thyroid cancers are associated with a decreased rate of disease free and disease specific survival. High quality analytical validation of a diagnostic test promotes confidence in the results which inform clinical decision making. OBJECTIVE: To demonstrate the analytical validation of the Afirma TERT promoter mutation assay. METHODS: TERT promoter C228T and C250T variant detection in genomic DNA (gDNA) was analyzed by assessing variable DNA input and the limit of detection (LOD) of variant allele frequency (VAF)...
March 5, 2024: Journal of Clinical Endocrinology and Metabolism
https://read.qxmd.com/read/38436102/biallelic-loss-of-function-variants-in-myocardial-zonula-adherens-protein-gene-myzap-cause-a-severe-recessive-form-of-dilated-cardiomyopathy
#4
JOURNAL ARTICLE
Juan Pablo Ochoa, Laura Lalaguna, Jesús G Mirelis, Fernando Dominguez, Esther Gonzalez-Lopez, Clara Salas, Gaston Roustan, Kathryn A McGurk, Sean L Zheng, Paul J R Barton, James S Ware, María Victoria Gómez-Gaviro, Enrique Lara-Pezzi, Pablo Garcia-Pavia
No abstract text is available yet for this article.
March 4, 2024: Circulation. Heart Failure
https://read.qxmd.com/read/38326813/dosimetric-evaluation-of-linac-based-single-isocenter-multi-target-multi-fraction-stereotactic-radiosurgery-with-more-than-20-targets-comparing-mme-hyperarc-and-rapidarc
#5
JOURNAL ARTICLE
Hyunuk Jung, Jihyung Yoon, Olga Dona Lemus, Sean Tanny, Yuwei Zhou, Michael Milano, Kenneth Usuki, Sara Hardy, Dandan Zheng
BACKGROUND: To compare the dosimetric quality of three widely used techniques for LINAC-based single-isocenter multi-target multi-fraction stereotactic radiosurgery (fSRS) with more than 20 targets: dynamic conformal arc (DCA) in BrainLAB Multiple Metastases Elements (MME) module and volumetric modulated arc therapy (VMAT) using RapidArc (RA) and HyperArc (HA) in Varian Eclipse. METHODS: Ten patients who received single-isocenter fSRS with 20-37 targets were retrospectively replanned using MME, RA, and HA...
February 7, 2024: Radiation Oncology
https://read.qxmd.com/read/38307098/safety-of-teropavimab-and-zinlirvimab-with-lenacapavir-once-every-6-months-for-hiv-treatment-a-phase-1b-randomised-proof-of-concept-study
#6
RANDOMIZED CONTROLLED TRIAL
Joseph J Eron, Susan J Little, Gordon Crofoot, Paul Cook, Peter J Ruane, Dushyantha Jayaweera, Laurie A VanderVeen, Edwin DeJesus, Yanan Zheng, Anthony Mills, Hailin Huang, Sarah E Waldman, Moti Ramgopal, Linda Gorgos, Sean E Collins, Jared M Baeten, Marina Caskey
BACKGROUND: Long-acting treatment for HIV has potential to improve adherence, provide durable viral suppression, and have long-term individual and public health benefits. We evaluated treatment with two antibodies that broadly and potently neutralise HIV (broadly neutralising antibodies; bNAbs), combined with lenacapavir, a long-acting capsid inhibitor, as a long-acting regimen. METHODS: This ongoing, randomised, blind, phase 1b proof-of-concept study conducted at 11 HIV treatment centres in the USA included adults with a plasma HIV-1 RNA concentration below 50 copies per mL who had at least 18 months on oral antiretroviral therapy (ART), CD4 counts of at least 500 cells per μL, and protocol-defined susceptibility to bNAbs teropavimab (3BNC117-LS) and zinlirvimab (10-1074-LS)...
March 2024: Lancet HIV
https://read.qxmd.com/read/38293830/reperfusion-in-patients-with-st-segment-elevation-myocardial-infarction-with-cardiogenic-shock-and-prolonged-interhospital-transport-times
#7
JOURNAL ARTICLE
Sean van Diepen, Yinggan Zheng, Janek M Senaratne, Benjamin D Tyrrell, Debraj Das, Holger Thiele, Timothy D Henry, Kevin R Bainey, Robert C Welsh
BACKGROUND: In patients with ST-segment-elevation myocardial infarction complicated by cardiogenic shock, primary percutaneous coronary intervention (pPCI) is the preferred revascularization option. Little is known about the efficacy and safety of a pharmacoinvasive approach for patients with cardiogenic shock presenting to a non-PCI hospital with prolonged interhospital transport times. METHODS: In a retrospective analysis of geographically extensive ST-segment-elevation myocardial infarction network (2006-2021), 426 patients with cardiogenic shock and ST-segment-elevation myocardial infarction presented to a non-PCI-capable hospital and underwent reperfusion therapy (53...
January 31, 2024: Circulation. Cardiovascular Interventions
https://read.qxmd.com/read/38267516/gliopredictor-a-deep-learning-model-for-identification-of-high-risk-adult-idh-mutant-glioma-towards-adjuvant-treatment-planning
#8
JOURNAL ARTICLE
Shuhua Zheng, Nikhil Rammohan, Timothy Sita, P Troy Teo, Yilin Wu, Maciej Lesniak, Sean Sachdev, Tarita O Thomas
Identification of isocitrate dehydrogenase (IDH)-mutant glioma patients at high risk of early progression is critical for radiotherapy treatment planning. Currently tools to stratify risk of early progression are lacking. We sought to identify a combination of molecular markers that could be used to identify patients who may have a greater need for adjuvant radiation therapy machine learning technology. 507 WHO Grade 2 and 3 glioma cases from The Cancer Genome Atlas, and 1309 cases from AACR GENIE v13.0 datasets were studied for genetic disparities between IDH1-wildtype and IDH1-mutant cohorts, and between different age groups...
January 25, 2024: Scientific Reports
https://read.qxmd.com/read/38226620/fgfr-inhibition-augments-anti-pd-1-efficacy-in-murine-fgfr3-mutant-bladder-cancer-by-abrogating-immunosuppression
#9
JOURNAL ARTICLE
Atsushi Okato, Takanobu Utsumi, Michela Ranieri, Xingnan Zheng, Mi Zhou, Luiza D Pereira, Ting Chen, Yuki Kita, Di Wu, Hyesun Hyun, Hyojin Lee, Andrew S Gdowski, John D Raupp, Sean Clark-Garvey, Ujjawal Manocha, Alison Chafitz, Fiona Sherman, Janaye Stephens, Tracy L Rose, Matthew I Milowsky, Sara E Wobker, Jonathan S Serody, Jeffrey S Damrauer, Kwok-Kin Wong, William Y Kim
The combination of targeted therapy with immune checkpoint inhibition (ICI) is an area of intense interest. We studied the interaction of fibroblast growth factor receptor (FGFR) inhibition with ICI in urothelial carcinoma (UC) of the bladder, in which FGFR3 is altered in 50% of cases. Using an FGFR3-driven, Trp53-mutant genetically engineered murine model (UPFL), we demonstrate that UPFL tumors recapitulate the histology and molecular subtype of their FGFR3-altered human counterparts. Additionally, UPFL1 allografts exhibit hyperprogression to ICI associated with an expansion of T regulatory cells (Tregs)...
January 16, 2024: Journal of Clinical Investigation
https://read.qxmd.com/read/38196618/rare-disease-gene-association-discovery-from-burden-analysis-of-the-100-000-genomes-project-data
#10
Valentina Cipriani, Letizia Vestito, Emma F Magavern, Julius Ob Jacobsen, Gavin Arno, Elijah R Behr, Katherine A Benson, Marta Bertoli, Detlef Bockenhauer, Michael R Bowl, Kate Burley, Li F Chan, Patrick Chinnery, Peter Conlon, Marcos Costa, Alice E Davidson, Sally J Dawson, Elhussein Elhassan, Sarah E Flanagan, Marta Futema, Daniel P Gale, Sonia García-Ruiz, Cecilia Gonzalez Corcia, Helen R Griffin, Sophie Hambleton, Amy R Hicks, Henry Houlden, Richard S Houlston, Sarah A Howles, Robert Kleta, Iris Lekkerkerker, Siying Lin, Petra Liskova, Hannah Mitchison, Heba Morsy, Andrew D Mumford, William G Newman, Ruxandra Neatu, Edel A O'Toole, Albert Cm Ong, Alistair T Pagnamenta, Shamima Rahman, Neil Rajan, Peter N Robinson, Mina Ryten, Omid Sadeghi-Alavijeh, John A Sayer, Claire L Shovlin, Jenny C Taylor, Omri Teltsh, Ian Tomlinson, Arianna Tucci, Clare Turnbull, Albertien M van Eerde, James S Ware, Laura M Watts, Andrew R Webster, Sarah K Westbury, Sean L Zheng, Mark Caulfield, Damian Smedley
To discover rare disease-gene associations, we developed a gene burden analytical framework and applied it to rare, protein-coding variants from whole genome sequencing of 35,008 cases with rare diseases and their family members recruited to the 100,000 Genomes Project (100KGP). Following in silico triaging of the results, 88 novel associations were identified including 38 with existing experimental evidence. We have published the confirmation of one of these associations, hereditary ataxia with UCHL1 , and independent confirmatory evidence has recently been published for four more...
December 21, 2023: medRxiv
https://read.qxmd.com/read/38141218/the-role-of-emergency-medicine-trained-physicians-in-multidisciplinary-pain-medicine
#11
JOURNAL ARTICLE
Sean Snyder, Danielle Zheng, Scott Brancolini, Jessica Oswald, Trent Emerick
No abstract text is available yet for this article.
December 23, 2023: Pain Medicine
https://read.qxmd.com/read/38118251/a-two-stage-design-enhanced-biodegradation-of-high-concentrations-of-a-c16-alkyl-quaternary-ammonium-compound-in-oxygen-based-membrane-biofilm-reactors
#12
JOURNAL ARTICLE
Chen-Wei Zheng, YenJung Sean Lai, Yi-Hao Luo, Yuhang Cai, Weiyu Wu, Bruce E Rittmann
Quaternary ammonia compounds (QAC), such as hexadecyltrimethyl-ammonium (CTAB), are widely used as disinfectants and in personal-care products. Their use as disinfectants grew during the SARS-CoV-2 (COVID-19) pandemic, leading to increased loads to wastewater treatment systems and the environment. Though low concentrations of CTAB are biodegradable, high concentrations are toxic to bacteria. Sufficient O2 delivery is a key to achieve high CTAB removal, and the O2 -based Membrane Biofilm Reactor (O2 -MBfR) is a proven means to biodegrade CTAB in a bubble-free, non-foaming manner...
December 10, 2023: Water Research
https://read.qxmd.com/read/38082180/screening-for-lipid-nanoparticles-that-modulate-the-immune-activity-of-helper-t-cells-towards-enhanced-antitumour-activity
#13
JOURNAL ARTICLE
Yining Zhu, Jingyao Ma, Ruochen Shen, Jinghan Lin, Shuyi Li, Xiaoya Lu, Jessica L Stelzel, Jiayuan Kong, Leonardo Cheng, Ivan Vuong, Zhi-Cheng Yao, Christine Wei, Nicole M Korinetz, Wu Han Toh, Joseph Choy, Rebekah A Reynolds, Melanie J Shears, Won June Cho, Natalie K Livingston, Gregory P Howard, Yizong Hu, Stephany Y Tzeng, Donald J Zack, Jordan J Green, Lei Zheng, Joshua C Doloff, Jonathan P Schneck, Sashank K Reddy, Sean C Murphy, Hai-Quan Mao
Lipid nanoparticles (LNPs) can be designed to potentiate cancer immunotherapy by promoting their uptake by antigen-presenting cells, stimulating the maturation of these cells and modulating the activity of adjuvants. Here we report an LNP-screening method for the optimization of the type of helper lipid and of lipid-component ratios to enhance the delivery of tumour-antigen-encoding mRNA to dendritic cells and their immune-activation profile towards enhanced antitumour activity. The method involves screening for LNPs that enhance the maturation of bone-marrow-derived dendritic cells and antigen presentation in vitro, followed by assessing immune activation and tumour-growth suppression in a mouse model of melanoma after subcutaneous or intramuscular delivery of the LNPs...
December 11, 2023: Nature Biomedical Engineering
https://read.qxmd.com/read/38081869/nonintrusive-thermal-wave-sensor-for-operando-quantification-of-degradation-in-commercial-batteries
#14
JOURNAL ARTICLE
Yuqiang Zeng, Fengyu Shen, Buyi Zhang, Jaeheon Lee, Divya Chalise, Qiye Zheng, Yanbao Fu, Sumanjeet Kaur, Sean D Lubner, Vincent S Battaglia, Bryan D McCloskey, Michael C Tucker, Ravi S Prasher
Monitoring real-world battery degradation is crucial for the widespread application of batteries in different scenarios. However, acquiring quantitative degradation information in operating commercial cells is challenging due to the complex, embedded, and/or qualitative nature of most existing sensing techniques. This process is essentially limited by the type of signals used for detection. Here, we report the use of effective battery thermal conductivity (keff ) as a quantitative indicator of battery degradation by leveraging the strong dependence of keff on battery-structure changes...
December 11, 2023: Nature Communications
https://read.qxmd.com/read/38014537/genotype-phenotype-taxonomy-of-hypertrophic-cardiomyopathy
#15
JOURNAL ARTICLE
Lara Curran, Antonio de Marvao, Paolo Inglese, Kathryn A McGurk, Pierre-Raphaël Schiratti, Adam Clement, Sean L Zheng, Surui Li, Chee Jian Pua, Mit Shah, Mina Jafari, Pantazis Theotokis, Rachel J Buchan, Sean J Jurgens, Claire E Raphael, Arun John Baksi, Antonis Pantazis, Brian P Halliday, Dudley J Pennell, Wenjia Bai, Calvin W L Chin, Rafik Tadros, Connie R Bezzina, Hugh Watkins, Stuart A Cook, Sanjay K Prasad, James S Ware, Declan P O'Regan
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an important cause of sudden cardiac death associated with heterogeneous phenotypes, but there is no systematic framework for classifying morphology or assessing associated risks. Here, we quantitatively survey genotype-phenotype associations in HCM to derive a data-driven taxonomy of disease expression. METHODS: We enrolled 436 patients with HCM (median age, 60 years; 28.8% women) with clinical, genetic, and imaging data...
November 28, 2023: Circulation. Genomic and Precision Medicine
https://read.qxmd.com/read/37986880/chemokine-receptor-2-is-a-theranostic-biomarker-for-abdominal-aortic-aneurysms
#16
Santiago Elizondo-Benedetto, Sergio Sastriques-Dunlop, Lisa Detering, Batool Arif, Gyu Seong Heo, Deborah Sultan, Hannah Luehmann, Xiaohui Zhang, Xuefeng Gao, Kitty Harrison, Dakkota Thies, Laura McDonald, Christophe Combadière, Chieh-Yu Lin, Yeona Kang, Jie Zheng, Joseph Ippolito, Richard Laforest, Robert J Gropler, Sean J English, Mohamed A Zayed, Yongjian Liu
Abdominal aortic aneurysm (AAA) is a degenerative vascular disease impacting aging populations with a high mortality upon rupture. There are no effective medical therapies to prevent AAA expansion and rupture. We previously demonstrated the role of the monocyte chemoattractant protein-1 (MCP-1) / C-C chemokine receptor type 2 (CCR2) axis in rodent AAA pathogenesis via positron emission tomography/computed tomography (PET/CT) using CCR2 targeted radiotracer 64 Cu-DOTA-ECL1i. We have since translated this radiotracer into patients with AAA...
November 7, 2023: medRxiv
https://read.qxmd.com/read/37965805/methodology-for-good-machine-learning-with-multi-omics-data
#17
JOURNAL ARTICLE
Thibaud Coroller, Berkman Sahiner, Anup Amatya, Alexej Gossmann, Konstantinos Karagiannis, Conor Moloney, Ravi K Samala, Luis Santana-Quintero, Nadia Solovieff, Craig Wang, Laleh Amiri-Kordestani, Qian Cao, Kenny H Cha, Rosane Charlab, Frank H Cross, Tingting Hu, Ruihao Huang, Jeffrey Kraft, Peter Krusche, Yutong Li, Zheng Li, Ilya Mazo, Rahul Paul, Susan Schnakenberg, Paolo Serra, Sean Smith, Chi Song, Fei Su, Mohit Tiwari, Colin Vechery, Xin Xiong, Juan Pablo Zarate, Hao Zhu, Arunava Chakravartty, Qi Liu, David Ohlssen, Nicholas Petrick, Julie A Schneider, Mark Walderhaug, Emmanuel Zuber
In 2020, Novartis Pharmaceuticals Corporation and the U.S. Food and Drug Administration (FDA) started a 4-year scientific collaboration to approach complex new data modalities and advanced analytics. The scientific question was to find novel radio-genomics-based prognostic and predictive factors for HR+/HER2- metastatic breast cancer under a Research Collaboration Agreement. This collaboration has been providing valuable insights to help successfully implement future scientific projects, particularly using artificial intelligence (AI) and machine learning (ML)...
November 15, 2023: Clinical Pharmacology and Therapeutics
https://read.qxmd.com/read/37866246/identifying-biodegradation-pathways-of-cetrimonium-bromide-ctab-using-metagenome-metatranscriptome-and-metabolome-tri-omics-integration
#18
JOURNAL ARTICLE
Chen-Wei Zheng, Yi-Hao Luo, Yen-Jung Sean Lai, Zehra Esra Ilhan, Aura Ontiveros-Valencia, Rosa Krajmalnik-Brown, Yan Jin, Haiwei Gu, Xiangxing Long, Dandan Zhou, Bruce E Rittmann
Traditional research on biodegradation of emerging organic pollutants involves slow and labor-intensive experimentation. Currently, fast-developing metagenome, metatranscriptome, and metabolome technologies promise to expedite mechanistic research on biodegradation of emerging organic pollutants. Integrating the metagenome, metatranscriptome, and metabolome (i.e., tri-omics) makes it possible to link gene abundance and expression with the biotransformation of the contaminant and the formation of metabolites from this biotransformation...
October 12, 2023: Water Research
https://read.qxmd.com/read/37831919/top-ten-tips-palliative-care-clinicians-should-know-about-physical-therapy-occupational-therapy-and-speech-language-pathology
#19
JOURNAL ARTICLE
Muhammad Hamza Habib, Jasmine Zheng, Ahmed Radwan, Dorothy W Tolchin, Sean Smith, Rebecca S Inzana, Tamra Keeney, Arpit Arora, Akinpelumi Beckley, Shaloo Choudhary, Christopher A Jones, Mathias Schlögl
This article provides guidance on the integral role of physical therapy, occupational therapy (OT), and speech language pathology (SLP) in palliative care (PC), underlining the necessity for effective communication between physicians and therapists, the importance of caregiver education and support, the application of holistic treatment modalities in OT, the underutilization of resources in PC settings, the role of SLP professionals in feeding and nutrition, and the challenges in communication during the advanced stages of illness...
October 13, 2023: Journal of Palliative Medicine
https://read.qxmd.com/read/37815950/next-generation-bioprinted-products-products-of-nature-or-patentable-innovation
#20
JOURNAL ARTICLE
Jennie O Zheng, S Sean Tu, Stephen B Maebius
Bioprinting is an additive manufacturing process used to create architectures that mimic natural living tissues in form and function [1]. It involves the deposition of bioink, which can include a mixture of living cells, nutrients, and extracellular matrix. The bioink is then deposited onto a scaffold to generate 3-D structures that imitate natural tissues and organs. This process has already been used to generate a diverse range of products, including bioprinted human ears for transplant, and 3-D printed bioceramic and modified biopolymer bone implants that received U...
2023: IEEE Pulse
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