Article
Immunology
Manuela Moraru, Adriana Perez-Portilla, Karima Al-Akioui Sanz, Alfonso Blazquez-Moreno, Antonio Arnaiz-Villena, Hugh T. Reyburn, Carlos Vilches
Summary: Fc gamma receptors (FcγR) are cell-surface glycoproteins that play a role in immune responses. The CNR5 deletion on the FCGR locus can lead to loss and recombination of FCGR genes, potentially affecting immune function. The distribution of FCGR polymorphism shows significant variation in the highlands of Ecuador, with CNR5 deletion being relatively common.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Immunology
Ria Lassauniere, Caroline T. Tiemessen
Summary: Research on the Fc receptors for Immunoglobulin G suggests their crucial role in the immune response, particularly in HIV-1 vaccine efficacy trials. Host genetic correlates within the low affinity Fc gamma-receptor locus have been identified in HIV-1 efficacy trials, shedding light on the potential contribution of Fc gamma R variability in modulating different HIV-1 vaccine efficacy outcomes.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Critical Care Medicine
Yosafe Wakwaya, Deepa Ramdurai, Jeffrey J. Swigris
Summary: Chronic cough in patients with IPF may involve multiple mechanisms, including comorbid conditions and IPF itself. Diagnostic and management approaches need to be multi-faceted, but may lack robust data support.
Article
Biochemistry & Molecular Biology
H. Lo Se Bastiaanse, Isabelle M. Henry, Helen Tsai, Meric Lieberman, Courtney Canning, Luca Comai, Andrew Groover
Summary: This study investigated the impact of gene copy number variation on leaf morphology traits in a population of Populus, identifying dosage-sensitive genomic regions that influenced specific or multiple morphological traits. The results showed that gene dosage variation can influence morphological variation through complex changes in gene expression, highlighting the potential for such variations to affect quantitative traits in nature.
Article
Biochemical Research Methods
Luca Denti, Parsoa Khorsand, Paola Bonizzoni, Fereydoun Hormozdiari, Rayan Chikhi
Summary: Structural variants (SVs) contribute to sequence variability in genomes and are significant in human genomics and precision medicine. However, due to the complexities of the human genome, SV discovery in individuals has been challenging. The introduction of low-error long-read sequencing technologies, such as PacBio HiFi, may provide a solution to these challenges.
Article
Biochemical Research Methods
Junping Li, Lin Gao, Yusen Ye
Summary: The researchers developed a control-free method called HiSV for identifying large-scale structural variations from Hi-C samples. HiSV achieved superior accuracy and sensitivity through evaluations on simulated data sets and cancer cell lines, and effectively captured complex SVs. HiSV can also supplement the results of WGS methods.
PLOS COMPUTATIONAL BIOLOGY
(2023)
Article
Biology
Milovan Suvakov, Arijit Panda, Colin Diesh, Ian Holmes, Alexej Abyzov
Summary: CNVpytor is an extension of CNVnator that improves performance and functionality, allowing for filtering, annotation, and merging of CNV calls across multiple samples. Its modular architecture enables use in shared and cloud environments, and data can be exported to JBrowse for visualization and analysis.
Article
Biochemistry & Molecular Biology
Abhishek Seth, Armando Rivera, Ahmed Chahdi, In-Seon Choi, Olga Medina-Martinez, Shaye Lewis, Marisol O'Neill, Alex Ridgeway, Joshua Moore, Carolina Jorgez, Dolores J. Lamb
Summary: KCTD13 gene plays an important role in hypospadias, cryptorchidism, and other genitourinary tract anomalies, and its deletion affects the subcellular localization of AR and the expression of SOX9. Copy number variants of this gene are more common in patients with genitourinary tract anomalies.
Review
Biochemistry & Molecular Biology
Roxana-Elena Cirjaliu, Mariana Deacu, Ioana Gherghisan, Angela Stefania Marghescu, Manuela Enciu, Gabriela Izabela Baltatescu, Antonela Anca Nicolau, Doina-Ecaterina Tofolean, Oana Cristina Arghir, Ariadna-Petronela Fildan
Summary: This review provides a comprehensive analysis of the risk factors, clinical, radiologic, and histological features of both post-COVID-19 pulmonary fibrosis (PCPF) and idiopathic pulmonary fibrosis (IPF). It highlights the similarities and differences between these two diseases by gathering relevant articles published in English up until October 2022 using multiple databases. This review aims to assist clinicians, pathologists, and researchers in making accurate diagnoses and selecting patients for anti-fibrotic therapies and future therapeutic perspectives.
Review
Medicine, General & Internal
Alba Mulet, Jaime Signes-Costa
Summary: Idiopathic pulmonary fibrosis is a lung disease with unknown causes, which has a poor prognosis. Telomeric shortening may play an important role in its pathogenesis, but mutations in telomere-related genes are not always present. Telomere shortening can serve as a biomarker for disease prognosis independently of other clinical factors.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Fabian Bohlaender, Sabrina Weissmueller, Dennis Riehl, Marcus Gutscher, Joerg Schuettrumpf, Stefanie Faust
Summary: The study aims to investigate the functional aspects of the IgA component in trimodulin, a new plasma-derived polyvalent immunoglobulin preparation, and demonstrates its potent immunomodulatory and anti-pathogenic effects, especially on neutrophil function.
Article
Immunology
Yingying Lin, Xiaofan Lai, Shaojie Huang, Lvya Pu, Qihao Zeng, Zhongxing Wang, Wenqi Huang
Summary: By analyzing differential gene expression and using machine learning algorithms, we identified three hub genes (ASPN, SFRP2, SLCO4A1) associated with idiopathic pulmonary fibrosis (IPF) and constructed an effective diagnostic model. We also found a significant correlation between IPF and infiltrating immune cells, indicating the potential role of immune regulation in the pathological process of IPF.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Pharmacology & Pharmacy
Xudan Yang, Zhihao Xu, Songhua Hu, Juan Shen
Summary: Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive interstitial lung disease without a known cause. Current approved drugs for IPF, such as Pirfenidone and Nintedanib, can slow down the decline in lung function and reduce the risk of acute worsening. However, they cannot alleviate symptoms or improve overall survival. The development of new, safe, and effective drugs is necessary. Previous studies have shown that cyclic nucleotides and phosphodiesterase inhibitors may be potential targets for treating pulmonary fibrosis. This paper reviews the progress in research on PDE inhibitors and provides insights for the development of anti-pulmonary fibrosis drugs.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Clinical Neurology
Aurelien Perrin, Raul Juntas Morales, Francoise Chapon, Corinne Theze, Delphine Lacourt, Henri Pegeot, Emmanuelle Uro-Coste, Diane Giovannini, Nicolas Leboucq, Martial Mallaret, Emmeline Lagrange, Valerie Rigau, Karen Gaudon, Pascale Richard, Michel Koenig, Corinne Metay, Mireille Cossee
Summary: This study analyzed patients from two distinct families with a novel distal titinopathy phenotype associated with the same CNV in the TTN gene. The CNV reported in this study is the most proximal out-of-frame TTN variant and leads to aberrant splicing transcripts, resulting in frameshift and possibly dominant effects. This data represents a novel phenotype-genotype association and provides hypotheses for its dominant effects.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Article
Biotechnology & Applied Microbiology
Joseph T. Glessner, Xiao Chang, Yichuan Liu, Jin Li, Munir Khan, Zhi Wei, Patrick M. A. Sleiman, Hakon Hakonarson
Summary: The study developed a tool called Montage to enhance the accuracy of detecting mosaic copy number variants, identified numerous mosaic CNVs associated with phenotypes, and presented a novel algorithm for efficient detection of mosaic CNVs.
Article
Respiratory System
Nikhil Hirani, Alison C. MacKinnon, Lisa Nicol, Paul Ford, Hans Schambye, Anders Pedersen, Ulf J. Nilsson, Hakon Leffler, Tariq Sethi, Susan Tantawi, Lise Gravelle, Robert J. Slack, Ross Mills, Utsa Karmakar, Duncan Humphries, Fredrik Zetterberg, Lucy Keeling, Lyn Paul, Philip L. Molyneaux, Feng Li, Wendy Funston, Ian A. Forrest, A. John Simpson, Michael A. Gibbons, Toby M. Maher
Summary: The study showed that TD139 was safe and well tolerated in healthy subjects and IPF patients, suppressing Gal-3 expression and reducing plasma biomarkers associated with IPF progression.
EUROPEAN RESPIRATORY JOURNAL
(2021)
Article
Respiratory System
Muhunthan Thillai, Christopher P. Atkins, Anjali Crawshaw, Simon P. Hart, Ling-Pei Ho, Vasileios Kouranos, Karen Patterson, Nicholas J. Screaton, Joanna Whight, Athol U. Wells
Article
Radiology, Nuclear Medicine & Medical Imaging
Benjamin J. Pippard, Mary A. Neal, Adam M. Maunder, Kieren G. Hollingsworth, Alberto Biancardi, Rod A. Lawson, Holly Fisher, John N. S. Matthews, A. John Simpson, Jim M. Wild, Peter E. Thelwall
Summary: This study aimed to assess the reproducibility of %VV measurements in healthy volunteers using F-19-MRI of inhaled perfluoropropane at two research sites. Results showed high consistency and precision in %VV measurements between observers, with minor discrepancies. This supports the feasibility of conducting larger multicenter clinical studies in the future.
MAGNETIC RESONANCE IN MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Emily Stephenson, Gary Reynolds, Rachel A. Botting, Fernando J. Calero-Nieto, Michael D. Morgan, Zewen Kelvin Tuong, Karsten Bach, Waradon Sungnak, Kaylee B. Worlock, Masahiro Yoshida, Natsuhiko Kumasaka, Katarzyna Kania, Justin Engelbert, Bayan Olabi, Jarmila Stremenova Spegarova, Nicola K. Wilson, Nicole Mende, Laura Jardine, Louis C. S. Gardner, Issac Goh, Dave Horsfall, Jim McGrath, Simone Webb, Michael W. Mather, Rik G. H. Lindeboom, Emma Dann, Ni Huang, Krzysztof Polanski, Elena Prigmore, Florian Gothe, Jonathan Scott, Rebecca P. Payne, Kenneth F. Baker, Aidan T. Hanrath, Ina C. D. Schim van der Loeff, Andrew S. Barr, Amada Sanchez-Gonzalez, Laura Bergamaschi, Federica Mescia, Josephine L. Barnes, Eliz Kilich, Angus de Wilton, Anita Saigal, Aarash Saleh, Sam M. Janes, Claire M. Smith, Nusayhah Gopee, Caroline Wilson, Paul Coupland, Jonathan M. Coxhead, Vladimir Yu Kiselev, Stijn van Dongen, Jaume Bacardit, Hamish W. King, Anthony J. Rostron, A. John Simpson, Sophie Hambleton, Elisa Laurenti, Paul A. Lyons, Kerstin B. Meyer, Marko Z. Nikolic, Christopher J. A. Duncan, Kenneth G. C. Smith, Sarah A. Teichmann, Menna R. Clatworthy, John C. Marioni, Berthold Gottgens, Muzlifah Haniffa
Summary: Transcriptomic and proteomic profiling of blood samples from individuals with COVID-19 reveals immune cell and hematopoietic progenitor cell alterations that are differentially associated with disease severity.
Article
Pediatrics
Nicola Hall, Nikki Rousseau, David W. Hamilton, A. John Simpson, Steven Powell, Malcolm Brodlie, Jason Powell
Summary: The caregivers of children with tracheostomies faced additional challenges during the COVID-19 pandemic, although this was not always their primary concern. Interviews showed rapid adaptation to the constantly changing pandemic-related requirements, rules, and regulations, as well as varying degrees of stoicism and citizenship.
ARCHIVES OF DISEASE IN CHILDHOOD
(2022)
Article
Immunology
Ananda S. Mirchandani, Stephen J. Jenkins, Calum C. Bain, Manuel A. Sanchez-Garcia, Hannah Lawson, Patricia Coelho, Fiona Murphy, David M. Griffith, Ailiang Zhang, Tyler Morrison, Tony Ly, Simone Arienti, Pranvera Sadiku, Emily R. Watts, Rebecca S. Dickinson, Leila Reyes, George Cooper, Sarah Clark, David Lewis, Van Kelly, Christos Spanos, Kathryn M. Musgrave, Liam Delaney, Isla Harper, Jonathan Scott, Nicholas J. Parkinson, Anthony J. Rostron, J. Kenneth Baillie, Sara Clohisey, Clare Pridans, Lara Campana, Philip Starkey Lewis, A. John Simpson, David H. Dockrell, Jurgen Schwarze, Nikhil Hirani, Peter J. Ratcliffe, Christopher W. Pugh, Kamil Kranc, Stuart J. Forbes, Moira K. B. Whyte, Sarah R. Walmsley
Summary: Hypoxemia is common in patients with acute respiratory distress syndrome (ARDS) and mouse models of hypoxic acute lung injury. It leads to monocytopenia and reduced accumulation of monocyte-derived macrophages, exacerbating inflammation in the lung. Intervention to rescue monocytopenia and limit injury is a potential therapeutic strategy for ARDS.
Article
Multidisciplinary Sciences
Wendy Funston, Marie-Helene Ruchaud-Sparagano, Jonathan Scott, Jason Powell, Faye A. H. Cooles, Lauren Shelmerdine, Cliona McDowell, Denis O'Leary, Karen L. Booth, Stephen C. Clark, Simon J. Ledingham, Anthony J. Rostron, John H. Dark, A. John Simpson
Summary: This study established a bilateral pulmonary vein sampling model in humans, and found that single-lung ventilation during cardiopulmonary bypass had no significant effects on neutrophil function.
Article
Cardiac & Cardiovascular Systems
Dominic L. Sykes, Michael G. Crooks, Simon P. Hart, Warren Jackson, John Gallagher, Alyn H. Morice
Summary: This study investigated patterns of esophageal motility in patients with refractory respiratory symptoms using high-resolution esophageal manometry (HROM). The findings revealed that two-thirds of the patients had esophageal dysmotility, suggesting a potential contribution of motility disorders to the development and progression of respiratory diseases.
RESPIRATORY MEDICINE
(2022)
Article
Critical Care Medicine
Iain Stewart, Joseph Jacob, Peter M. George, Philip L. Molyneaux, Joanna C. Porter, Richard J. Allen, Shahab Aslani, J. Kenneth Baillie, Shaney L. Barratt, Paul Beirne, Stephen M. Bianchi, John F. Blaikley, James D. Chalmers, Rachel C. Chambers, Nazia Chadhuri, Christopher Coleman, Guilhem Collier, Emma K. Denneny, Annemarie Docherty, Omer Elneima, Rachael A. Evans, Laura Fabbri, Michael A. Gibbons, Fergus Gleeson, Bibek Gooptu, Neil J. Greening, Beatriz Guillen Guio, Ian P. Hall, Neil A. Hanley, Victoria Harris, Ewen M. Harrison, Melissa Heightman, Toby E. Hillman, Alex Horsley, Linzy Houchen-Wolloff, Ian Jarrold, Simon R. Johnson, Mark G. Jones, Fasihul Khan, Rod Lawson, Olivia Leavy, Nazir Lone, Michael Marks, Hamish McAuley, Puja Mehta, Dhruv Parekh, Karen Piper Hanley, Manuela Plate, John Pearl, Krisnah Poinasamy, Jennifer K. Quint, Betty Raman, Matthew Richardson, Pilar Rivera-Ortega, Laura Saunders, Ruth Saunders, Malcolm G. Semple, Marco Sereno, Aarti Shikotra, A. John Simpson, Amisha Singapuri, David J. F. Smith, Mark Spears, Lisa G. Spencer, Stefan Stanel, David R. Thickett, A. A. Roger Thompson, Mathew Thorpe, Simon L. F. Walsh, Samantha Walker, Nicholas David Weatherley, Mark E. Weeks, Jim M. Wild, Dan G. Wootton, Chris E. Brightling, Ling-Pei Ho, Louise Wain, Gisli R. Jenkins
Summary: This study analyzed the data from the UK Interstitial Lung Disease Consortium (UKILD) post-COVID-19 study to estimate the prevalence of residual lung abnormalities in hospitalized COVID-19 patients. The results showed that approximately 11% of recovered COVID-19 patients had residual lung abnormalities, highlighting the need for long-term monitoring.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Sarah Thompson, Chong Yun Pang, Krishna Mohan Sepuru, Seppe Cambier, Thomas P. Hellyer, Jonathan Scott, A. John Simpson, Paul Proost, John A. Kirby, Krishna Rajarathnam, Neil S. Sheerin, Simi Ali
Summary: Chemokine CXCL8 plays a crucial role in human immune response by mediating neutrophil migration and activation at sites of infection and injury. This study demonstrates that peroxynitrite can nitrate CXCL8, leading to impaired neutrophil migration and activation. The nitrated chemokine showed reduced ability to induce neutrophil migration in vitro and failed to promote leukocyte recruitment in vivo due to impaired receptor signaling and binding to glycosaminoglycans. The presence of nitrated CXCL8 was detected in bronchoalveolar lavage samples from patients with pneumonia, providing the first direct evidence of chemokine nitration in human pathophysiology.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2023)
Article
Respiratory System
Amal Alamer, Rhys Jones, Michael Drinnan, A. John Simpson, Mike Griffin, Joanne M. Patterson, Abdullah Althuwaybi, Chris Ward, Ian A. Forrest
Summary: This study aimed to investigate oropharyngeal swallowing in patients with Idiopathic Pulmonary Fibrosis (IPF) and found that some patients showed swallowing difficulty, including aspiration into an unprotected airway.
BMC PULMONARY MEDICINE
(2022)
Article
Medicine, General & Internal
Jonathan Scott, Loredana Trevi, Hannah McNeil, Tom Ewen, Phil Mawson, David McDonald, Andrew Filby, Ranjit Lall, Katie Booth, Gert Boschman, Vesna Melkebeek, Gavin Perkins, Ronan McMullan, Daniel F. McAuley, Iain J. McCullagh, Timothy Walsh, Anthony Rostron, Manu Shankar-Hari, Paul Dark, A. John Simpson, Andrew Conway Morris, Thomas P. Hellyer
Summary: This study aims to evaluate the impact of sepsis-associated immunosuppression on antibiotic stewardship. The effect of immunosuppression on trial outcomes will be determined through immunophenotyping analysis. The results of this study will contribute to guiding complex decisions and improving antibiotic management strategies.
Article
Chemistry, Medicinal
Jose Luis Marin-Rubio, Rachel E. Peltier-Heap, Maria Emilia Duenas, Tiaan Heunis, Abeer Dannoura, Joseph Inns, Jonathan Scott, A. John Simpson, Helen J. Blair, Olaf Heidenreich, James M. Allan, Jessica E. Watt, Mathew P. Martin, Barbara Saxty, Matthias Trost
Summary: In this study, a label-free cellular phenotypic drug discovery assay was developed to identify anti-inflammatory drugs in acute myeloid leukemia cells. The results showed that nilotinib, but not imatinib, could block inflammatory responses. Further investigation revealed that nilotinib binds to p38α and inhibits the p38α-MK2/3 signaling axis, thereby suppressing pro-inflammatory cytokine expression, cell adhesion, and innate immunity markers in activated monocytes derived from AML.
JOURNAL OF MEDICINAL CHEMISTRY
(2022)
Article
Respiratory System
Ann Hutchinson, Victoria Allgar, Judith Cohen, David C. Currow, Susan Griffin, Simon Hart, Kelly Hird, Andrew Hodge, Suzanne Mason, Matthew Northgraves, Joanne Reeve, Flavia Swan, Miriam J. Johnson
Summary: This study aimed to explore the effectiveness and cost-effectiveness of a paramedic-administered, non-pharmacological breathlessness intervention for people with acute-on-chronic breathlessness at ambulance call-out. However, due to the COVID-19 pandemic, patient recruitment to target was not feasible. Nevertheless, the study results provide valuable information on recruitment, consent, and data collection.
Article
Respiratory System
Matthew Northgraves, Judith Cohen, Victoria Allgar, David Currow, Simon Hart, Kelly Hird, Andrew Hodge, Miriam Johnson, Suzanne Mason, Flavia Swan, Ann Hutchinson
Summary: The BREATHE study aims to explore the feasibility and cost-effectiveness of a paramedic-administered non-pharmacological breathlessness intervention for patients with acute-onchronic breathlessness. By recruiting 60 participants and collecting data through a mixed-methods approach, the study will evaluate the effectiveness and acceptability of the intervention.
