keyword
https://read.qxmd.com/read/38508193/a-syndromic-neurodevelopmental-disorder-caused-by-rare-variants-in-ppfia3
#1
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Jill A Rosenfeld, Vanesa C Lerma, Alyssa Tran, Megan A Longley, Richard A Lewis, Monika Weisz-Hubshman, Mir Reza Bekheirnia, Nasim Bekheirnia, Lauren Massingham, Michael Zech, Matias Wagner, Hartmut Engels, Kirsten Cremer, Elisabeth Mangold, Sophia Peters, Jessica Trautmann, Claudia Perne, Jessica L Mester, Maria J Guillen Sacoto, Richard Person, Pamela P McDonnell, Stacey R Cohen, Laina Lusk, Ana S A Cohen, Jean-Baptiste Le Pichon, Tomi Pastinen, Dihong Zhou, Kendra Engleman, Caroline Racine, Laurence Faivre, Sébastien Moutton, Anne-Sophie Denommé-Pichon, Hyun Yong Koh, Annapurna Poduri, Jeffrey Bolton, Cordula Knopp, Dong Sun Julia Suh, Andrea Maier, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Reza Maroofian, Gerald Bradley Schaefer, Vijayalakshmi Ramakumaran, Pradeep Vasudevan, Benito Banos-Pinero, Alistair T Pagnamenta, Chitra Prasad, Matthew Osmond, Sarah Schuhmann, Georgia Vasileiou, Sophie Russ-Hall, Ingrid E Scheffer, Gemma L Carvill, Heather Mefford, Carlos A Bacino, Brendan H Lee, Hsiao-Tuan Chao
No abstract text is available yet for this article.
March 19, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38389504/a-qualitative-study-of-mental-health-problems-among-children-living-in-new-delhi-slums
#2
JOURNAL ARTICLE
Prerna Martin, Emily E Haroz, Catherine Lee, Paul Bolton, Kiran Martin, Rosemary Meza, Elizabeth McCarthy, Shannon Dorsey
Children living in urban slums in India are exposed to chronic stressors that increase their risk of developing mental disorders, but they remain a neglected group. Effective mental health interventions are needed; however, it is necessary to understand how mental health symptoms and needs are perceived and prioritized locally to tailor interventions for this population. We used an existing rapid ethnographic assessment approach to identify mental health problems from the perspective of children living in Indian slums, including local descriptions, perceived causes, impact, and coping behavior...
February 23, 2024: Transcultural Psychiatry
https://read.qxmd.com/read/38294814/outcomes-in-clinical-subgroups-of-patients-with-alcohol-related-hospitalizations
#3
JOURNAL ARTICLE
Erik L Friesen, Andrea Mataruga, Nathan Nickel, Paul Kurdyak, James M Bolton
IMPORTANCE: Alcohol-related hospitalizations are common and associated with significant cost to the health care system. We have a limited understanding of the characteristics of individuals who experience alcohol-related hospitalizations, which limits our capacity to prioritize those at the highest risk of postdischarge harm. OBJECTIVE: To identify and characterize the clinical subgroups of individuals who are hospitalized for alcohol-related harms. DESIGN, SETTING, AND PARTICIPANTS: This cohort study used latent class analysis (LCA) to identify clinical subgroups of individuals experiencing alcohol-related hospitalizations in 2 provinces in Canada...
January 2, 2024: JAMA Network Open
https://read.qxmd.com/read/38224632/characterizing-the-clinical-subgroups-of-individuals-who-present-to-the-emergency-department-for-alcohol-related-harms-in-ontario-canada-a-latent-class-analysis
#4
JOURNAL ARTICLE
Erik Loewen Friesen, Andrea Mataruga, James Bolton, Paul Kurdyak
Alcohol-related emergency department (ED) visits are common and associated with adverse clinical outcomes, including premature mortality. This population-based retrospective cohort study identified clinically distinct subgroups of individuals who experience alcohol-related ED visits and characterized differences in the risk of adverse outcomes between them. 73,658 individuals who experienced an alcohol-related ED visit in Ontario, Canada between 2017 and 2018 were identified. Latent class analysis (LCA) revealed five clinically distinct subgroups within the overall cohort...
January 8, 2024: Psychiatry Research
https://read.qxmd.com/read/38181735/a-syndromic-neurodevelopmental-disorder-caused-by-rare-variants-in-ppfia3
#5
JOURNAL ARTICLE
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Jill A Rosenfeld, Vanesa C Lerma, Alyssa Tran, Megan A Longley, Richard A Lewis, Monika Weisz-Hubshman, Mir Reza Bekheirnia, Nasim Bekheirnia, Lauren Massingham, Michael Zech, Matias Wagner, Hartmut Engels, Kirsten Cremer, Elisabeth Mangold, Sophia Peters, Jessica Trautmann, Jessica L Mester, Maria J Guillen Sacoto, Richard Person, Pamela P McDonnell, Stacey R Cohen, Laina Lusk, Ana S A Cohen, Jean-Baptiste Le Pichon, Tomi Pastinen, Dihong Zhou, Kendra Engleman, Caroline Racine, Laurence Faivre, Sébastien Moutton, Anne-Sophie Denommé-Pichon, Hyun Yong Koh, Annapurna Poduri, Jeffrey Bolton, Cordula Knopp, Dong Sun Julia Suh, Andrea Maier, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Reza Maroofian, Gerald Bradley Schaefer, Vijayalakshmi Ramakumaran, Pradeep Vasudevan, Chitra Prasad, Matthew Osmond, Sarah Schuhmann, Georgia Vasileiou, Sophie Russ-Hall, Ingrid E Scheffer, Gemma L Carvill, Heather Mefford, Carlos A Bacino, Brendan H Lee, Hsiao-Tuan Chao
PPFIA3 encodes the protein-tyrosine phosphatase, receptor-type, F-polypeptide-interacting-protein-alpha-3 (PPFIA3), which is a member of the LAR-protein-tyrosine phosphatase-interacting-protein (liprin) family involved in synapse formation and function, synaptic vesicle transport, and presynaptic active zone assembly. The protein structure and function are evolutionarily well conserved, but human diseases related to PPFIA3 dysfunction are not yet reported in OMIM. Here, we report 20 individuals with rare PPFIA3 variants (19 heterozygous and 1 compound heterozygous) presenting with developmental delay, intellectual disability, hypotonia, dysmorphisms, microcephaly or macrocephaly, autistic features, and epilepsy with reduced penetrance...
January 4, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38175920/structural-predictors-of-lung-function-decline-in-young-smokers-with-normal-spirometry
#6
JOURNAL ARTICLE
Andrew I Ritchie, Gavin C Donaldson, Eric A Hoffman, James P Allinson, Chloe I Bloom, Charlotte E Bolton, Gourab Choudhury, Sarah E Gerard, Junfeng Guo, Luana Alves-Moreira, Lorcan McGarvey, Elizabeth Sapey, Robert A Stockley, K P Yip, Dave Singh, Tom Wilkinson, Malin Fageras, Kristoffer Ostridge, Olaf Jöns, Enrica Bucchioni, Chris H Compton, Paul Jones, Karen Mezzi, Jørgen Vestbo, Peter M A Calverley, Jadwiga A Wedzicha
RATIONALE: Chronic obstructive pulmonary disease (COPD) due to tobacco smoking commonly presents when extensive lung damage has occurred. OBJECTIVES: We hypothesised that structural change would be detected early in the natural history of COPD and would relate to loss of lung function with time. METHODS: We recruited 431 current smokers (median age 39 years, 16 pack-years smoked) and recorded symptoms by the COPD Assessment Test (CAT), spirometry and quantitative thoracic CT (QCT) scans at study entry...
January 4, 2024: American Journal of Respiratory and Critical Care Medicine
https://read.qxmd.com/read/38172512/diverse-array-of-neutralizing-antibodies-elicited-upon-spike-ferritin-nanoparticle-vaccination-in-rhesus-macaques
#7
JOURNAL ARTICLE
Rajeshwer S Sankhala, Kerri G Lal, Jaime L Jensen, Vincent Dussupt, Letzibeth Mendez-Rivera, Hongjun Bai, Lindsay Wieczorek, Sandra V Mayer, Michelle Zemil, Danielle A Wagner, Samantha M Townsley, Agnes Hajduczki, William C Chang, Wei-Hung Chen, Gina C Donofrio, Ningbo Jian, Hannah A D King, Cynthia G Lorang, Elizabeth J Martinez, Phyllis A Rees, Caroline E Peterson, Fabian Schmidt, Tricia J Hart, Debra K Duso, Lawrence W Kummer, Sean P Casey, Jazmean K Williams, Shruthi Kannan, Bonnie M Slike, Lauren Smith, Isabella Swafford, Paul V Thomas, Ursula Tran, Jeffrey R Currier, Diane L Bolton, Edgar Davidson, Benjamin J Doranz, Theodora Hatziioannou, Paul D Bieniasz, Dominic Paquin-Proulx, William W Reiley, Morgane Rolland, Nancy J Sullivan, Sandhya Vasan, Natalie D Collins, Kayvon Modjarrad, Gregory D Gromowski, Victoria R Polonis, Nelson L Michael, Shelly J Krebs, M Gordon Joyce
The repeat emergence of SARS-CoV-2 variants of concern (VoC) with decreased susceptibility to vaccine-elicited antibodies highlights the need to develop next-generation vaccine candidates that confer broad protection. Here we describe the antibody response induced by the SARS-CoV-2 Spike Ferritin Nanoparticle (SpFN) vaccine candidate adjuvanted with the Army Liposomal Formulation including QS21 (ALFQ) in non-human primates. By isolating and characterizing several monoclonal antibodies directed against the Spike Receptor Binding Domain (RBD), N-Terminal Domain (NTD), or the S2 Domain, we define the molecular recognition of vaccine-elicited cross-reactive monoclonal antibodies (mAbs) elicited by SpFN...
January 3, 2024: Nature Communications
https://read.qxmd.com/read/38135373/predicting-cytopenias-progression-and-survival-in-patients-with-clonal-cytopenia-of-undetermined-significance-a-prospective-cohort-study
#8
JOURNAL ARTICLE
Catherine Cargo, Elsa Bernard, Tumas Beinortas, Kelly L Bolton, Paul Glover, Helen Warren, Daniel Payne, Rukhsaar Ali, Alesia Khan, Mike Short, Suzan Van Hoppe, Alex Smith, Jan Taylor, Paul Evans, Elli Papaemmanuil, Simon Crouch
BACKGROUND: Somatic mutations are frequently reported in individuals with cytopenia but without a confirmed haematological diagnosis (clonal cytopenia of undetermined significance; CCUS). These patients have an increased risk of progression to a myeloid malignancy and worse overall survival than those with no such mutations. To date, studies have been limited by retrospective analysis or small patient numbers. We aimed to establish the natural history of CCUS by prospectively investigating outcome in a large, well defined patient cohort...
January 2024: Lancet Haematology
https://read.qxmd.com/read/38115123/a-workflow-for-deriving-chemical-entities-from-crystallographic-data-and-its-application-to-the-crystallography-open-database
#9
JOURNAL ARTICLE
Antanas Vaitkus, Andrius Merkys, Thomas Sander, Miguel Quirós, Paul A Thiessen, Evan E Bolton, Saulius Gražulis
Knowledge about the 3-dimensional structure, orientation and interaction of chemical compounds is important in many areas of science and technology. X-ray crystallography is one of the experimental techniques capable of providing a large amount of structural information for a given compound, and it is widely used for characterisation of organic and metal-organic molecules. The method provides precise 3D coordinates of atoms inside crystals, however, it does not directly deliver information about certain chemical characteristics such as bond orders, delocalization, charges, lone electron pairs or lone electrons...
December 19, 2023: Journal of Cheminformatics
https://read.qxmd.com/read/37963111/biological-responses-of-pacific-herring-embryos-to-crude-oil-are-quantifiable-at-exposure-levels-below-conventional-limits-of-quantitation-for-pahs-in-water-and-tissues
#10
JOURNAL ARTICLE
John P Incardona, Tiffany L Linbo, James R Cameron, Barbara L French, Jennie L Bolton, Jacob L Gregg, Carey E Donald, Paul K Hershberger, Nathaniel L Scholz
Pacific herring ( Clupea pallasii ), a cornerstone of marine food webs, generally spawn on marine macroalgae in shallow nearshore areas that are disproportionately at risk from oil spills. Herring embryos are also highly susceptible to toxicity from chemicals leaching from oil stranded in intertidal and subtidal zones. The water-soluble components of crude oil trigger an adverse outcome pathway that involves disruption of the physiological functions of cardiomyocytes in the embryonic herring heart. In previous studies, impaired ionoregulation (calcium and potassium cycling) in response to specific polycyclic aromatic hydrocarbons (PAHs) corresponds to lethal embryolarval heart failure or subtle chamber malformations at the high and low ends of the PAH exposure range, respectively...
November 14, 2023: Environmental Science & Technology
https://read.qxmd.com/read/37896862/multivariate-analysis-as-a-method-to-evaluate-antigenic-relationships-between-bovine-viral-diarrhea-virus-1b-isolates-and-vaccine-strains
#11
JOURNAL ARTICLE
Shollie M Falkenberg, Hao Ma, Eduardo Casas, Rohana P Dassanayake, Michael W Bolton, Gage Raithel, Scott Silvis, John D Neill, Paul H Walz
The antigenicity of bovine viral diarrhea virus (BVDV) has been evaluated using virus-neutralizing titer data analyzed by principal component analysis (PCA) and has demonstrated numerous isolates to be antigenically divergent from US vaccine strains. The lack of BVDV-1b strains in currently licensed vaccines has raised concerns regarding the lack of protection against BVDV-1b field strains. The aim of this study was to evaluate the antigenic diversity of BVDV-1b strains and better understand the breadth of antigenic relatedness using BVDV-1b antisera and antisera from vaccine strains...
October 13, 2023: Viruses
https://read.qxmd.com/read/37871188/per-and-polyfluoroalkyl-substances-pfas-in-pubchem-7-million-and-growing
#12
JOURNAL ARTICLE
Emma L Schymanski, Jian Zhang, Paul A Thiessen, Parviel Chirsir, Todor Kondic, Evan E Bolton
Per- and polyfluoroalkyl substances (PFAS) are of high concern, with calls to regulate them as a class. In 2021, the Organisation for Economic Co-operation and Development (OECD) revised the definition of PFAS to include any chemical containing at least one saturated CF2 or CF3 moiety. The consequence is that one of the largest open chemical collections, PubChem, with 116 million compounds, now contains over 7 million PFAS under this revised definition. These numbers are several orders of magnitude higher than previously established PFAS lists (typically thousands of entries) and pose an incredible challenge to researchers and computational workflows alike...
October 23, 2023: Environmental Science & Technology
https://read.qxmd.com/read/37861342/immune-activation-profiles-elicited-by-distinct-repeated-tlr-agonist-infusions-in-rhesus-macaques
#13
JOURNAL ARTICLE
Hannah A D King, Supriya Pokkali, Dohoon Kim, Daniel Brammer, Kaimei Song, Elizabeth McCarthy, Chelsea Lehman, John-Paul Todd, Kathryn E Foulds, Patricia A Darrah, Robert A Seder, Diane L Bolton, Mario Roederer
TLR agonists are a promising class of immune system stimulants investigated for immunomodulatory applications in cancer immunotherapy and viral diseases. In this study, we sought to characterize the safety and immune activation achieved by different TLR agonists in rhesus macaques (Macaca mulatta), a useful preclinical model of complex immune interactions. Macaques received one of three TLR agonists, followed by plasma cytokine, immune cell subset representation, and blood cell activation measurements. The TLR4 agonist LPS administered i...
October 20, 2023: Journal of Immunology
https://read.qxmd.com/read/37854419/responding-to-the-impact-of-covid-19-on-the-mental-health-and-well-being-of-health-workers-in-lmics
#14
JOURNAL ARTICLE
Jerilyn Hoover, Paul Bolton, Ashley Clonchmore, Linda Sussman, Diana Frymus
The COVID-19 pandemic has worsened mental health among health workers around the world. With a projected global shortage of 10.2 million health workers by 2030, further exacerbated by COVID-19, taking action to support health worker mental health needs to be an integral component of investments to overcome this gap and build resiliency of systems for the future. Health workers are functioning in highly stressful environments at great personal risk to provide services that improve quality of life and save lives...
2023: Global Mental Health
https://read.qxmd.com/read/37854402/expanding-mental-health-services-in-low-and-middle-income-countries-a-task-shifting-framework-for-delivery-of-comprehensive-collaborative-and-community-based-care
#15
JOURNAL ARTICLE
Paul Bolton, Joyce West, Claire Whitney, Mark J D Jordans, Judith Bass, Graham Thornicroft, Laura Murray, Leslie Snider, Julian Eaton, Pamela Y Collins, Peter Ventevogel, Stephanie Smith, Dan J Stein, Inge Petersen, Derrick Silove, Victor Ugo, John Mahoney, Rabih El Chammay, Carmen Contreras, Eddy Eustache, Phiona Koyiet, Esubalew Haile Wondimu, Nawaraj Upadhaya, Giuseppe Raviola
This paper proposes a framework for comprehensive, collaborative, and community-based care (C4) for accessible mental health services in low-resource settings. Because mental health conditions have many causes, this framework includes social, public health, wellness and clinical services. It accommodates integration of stand-alone mental health programs with health and non-health community-based services. It addresses gaps in previous models including lack of community-based psychotherapeutic and social services, difficulty in addressing comorbidity of mental and physical conditions, and how workers interact with respect to referral and coordination of care...
2023: Global Mental Health
https://read.qxmd.com/read/37840815/shinytps-curating-transformation-products-from-text-mining-results
#16
JOURNAL ARTICLE
Emma H Palm, Parviel Chirsir, Jessy Krier, Paul A Thiessen, Jian Zhang, Evan E Bolton, Emma L Schymanski
Transformation product (TP) information is essential to accurately evaluate the hazards compounds pose to human health and the environment. However, information about TPs is often limited, and existing data is often not fully Findable, Accessible, Interoperable, and Reusable (FAIR). FAIRifying existing TP knowledge is a relatively easy path toward improving access to data for identification workflows and for machine-learning-based algorithms. ShinyTPs was developed to curate existing transformation information derived from text-mined data within the PubChem database...
October 10, 2023: Environmental Science & Technology Letters
https://read.qxmd.com/read/37812272/effectiveness-of-trauma-focused-cognitive-behavioral-therapy-compared-to-psychosocial-counseling-in-reducing-hiv-risk-behaviors-substance-use-and-mental-health-problems-among-orphans-and-vulnerable-children-in-zambia-a-community-based-randomized-controlled
#17
RANDOMIZED CONTROLLED TRIAL
Jeremy C Kane, Caleb Figge, Alejandra Paniagua-Avila, Susan Michaels-Strasser, Christopher Akiba, Mwamba Mwenge, Saphira Munthali, Paul Bolton, Stephanie Skavenski, Ravi Paul, Francis Simenda, Kathryn Whetten, Judith Cohen, Kristina Metz, Laura K Murray
Orphans and vulnerable children (OVC) in sub-Saharan Africa are at high risk for HIV infection and transmission. HIV prevention and treatment efforts with OVC are hindered by mental health and substance use problems. This randomized controlled trial compared a mental health intervention, Trauma Focused Cognitive Behavioral Therapy (TF-CBT), to an enhanced version of an existing HIV Psychosocial Counseling (PC+) program among 610 adolescents who met PEPFAR criteria for OVC and had HIV risk behaviors in Lusaka, Zambia...
January 2024: AIDS and Behavior
https://read.qxmd.com/read/37725840/comparison-of-the-impact-of-uv-light-emitting-diode-and-uv-lamp-at-pilot-plant-scale-level-on-quality-parameters-and-consumer-perception-of-fresh-chicken-meat
#18
JOURNAL ARTICLE
Arturo B Soro, Cristina Botinestean, Sajad Shokri, Alexandre Juge, Shay Hannon, Paul Whyte, Declan J Bolton, Paula Bourke, Mahesha M Poojary, Brijesh K Tiwari
The present study compared the impact of two UV light devices: conventional UV lamp and UV-LED on the colour, pH, lipid and protein oxidation of fresh chicken breast meat aerobically stored at 4 °C for 10 days. Lipid oxidation was the most impacted quality attribute in UV lamp treated meat, unlike UV-LED that showed no effect compared to non-treated meat. Slight changes were observed in colour, pH and protein oxidation of chicken samples subjected to UV lamp and UV-LED. To evaluate these changes from a consumer perspective, the different treatment samples were stored at 4 °C for 3 days and colour likeness, odour likeness and overall appearance were assessed by consumer sensory analysis...
September 15, 2023: Food Chemistry
https://read.qxmd.com/read/37689419/the-efficiency-of-uv-light-emitting-diodes-uv-led-in-decontaminating-campylobacter-and-salmonella-and-natural-microbiota-in-chicken-breast-compared-to-a-uv-pilot-plant-scale-device
#19
JOURNAL ARTICLE
Arturo B Soro, Daniel Ekhlas, Sajad Shokri, Ming Ming Yem, Rui Chao Li, Soukaina Barroug, Shay Hannon, Paul Whyte, Declan J Bolton, Catherine M Burgess, Paula Bourke, Brijesh K Tiwari
This study investigated the combined effect of Ultraviolet (UV) light-emitting diode (LED) technology treatment with refrigerated storage of chicken breast meat over 7 days on Campylobacter jejuni, Salmonella enterica serovar Typhimurium, total viable counts (TVC) and total Enterobacteriaceae counts (TEC). An optimised UV-LED treatment at 280 nm for 6 min decreased inoculated S. Typhimurium and C. jejuni populations by 0.6-0.64 log CFU/g, and TVC and TEC population by 1-1.2 log CFU/g in chicken samples...
December 2023: Food Microbiology
https://read.qxmd.com/read/37603748/igg3-subclass-antibodies-recognize-antigenically-drifted-influenza-viruses-and-sars-cov-2-variants-through-efficient-bivalent-binding
#20
JOURNAL ARTICLE
Marcus J Bolton, Jefferson J S Santos, Claudia P Arevalo, Trevor Griesman, Megan Watson, Shuk Hang Li, Paul Bates, Holly Ramage, Patrick C Wilson, Scott E Hensley
The constant domains of antibodies are important for effector functions, but less is known about how they can affect binding and neutralization of viruses. Here, we evaluated a panel of human influenza virus monoclonal antibodies (mAbs) expressed as IgG1, IgG2, or IgG3. We found that many influenza virus-specific mAbs have altered binding and neutralization capacity depending on the IgG subclass encoded and that these differences result from unique bivalency capacities of the subclasses. Importantly, subclass differences in antibody binding and neutralization were greatest when the affinity for the target antigen was reduced through antigenic mismatch...
August 29, 2023: Proceedings of the National Academy of Sciences of the United States of America
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