1,062 results match your criteria improved phenotyping


Technology-based therapy-response and prognostic biomarkers in a prospective study of a de novo Parkinson's disease cohort.

NPJ Parkinsons Dis 2021 Sep 17;7(1):82. Epub 2021 Sep 17.

IRCCS Mondino Foundation, Pavia, Italy.

Early noninvasive reliable biomarkers are among the major unmet needs in Parkinson's disease (PD) to monitor therapy response and disease progression. Objective measures of motor performances could allow phenotyping of subtle, undetectable, early stage motor impairments of PD patients. This work aims at identifying prognostic biomarkers in newly diagnosed PD patients and quantifying therapy-response. Read More

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September 2021

The Spectrum of Hemolytic Disease of the Newborn: Evaluating the Etiology of Unconjugated Hyperbilirubinemia Among Neonates Pertinent to Immunohematological Workup.

Cureus 2021 Aug 6;13(8):e16940. Epub 2021 Aug 6.

Department of Transfusion Medicine, Institute of Medical Sciences and SUM Hospital, Bhubaneswar, IND.

Background and objective The exact burden of hemolytic disease of the newborn (HDN) attributed to neonatal unconjugated hyperbilirubinemia (NUH) in developing nations is still unclear. Still, anti-D is reported to be the most common cause of HDN in India. ABO incompatibility has emerged as a leading cause of exchange transfusion (ET) in many countries. Read More

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Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits.

Transl Psychiatry 2021 Sep 9;11(1):471. Epub 2021 Sep 9.

Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.

An improved understanding of sterol and lipid abnormalities in individuals with autism spectrum disorder (ASD) could lead to personalized treatment approaches. Toward this end, in blood, we identified reduced synthesis of cholesterol in families with ≥2 children with ASD participating with the Autism Genetic Resource Exchange (AGRE), as well as reduced amounts of high-density lipoprotein cholesterol (HDL), apolipoprotein A1 (ApoA1) and apolipoprotein B (ApoB), with 19.9% of the subjects presenting with apolipoprotein patterns similar to hypolipidemic clinical syndromes and 30% with either or both ApoA1 and ApoB less than the fifth centile. Read More

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September 2021

Innate Lymphoid Cells Promote Recovery of Ventricular Function After Myocardial Infarction.

J Am Coll Cardiol 2021 Sep;78(11):1127-1142

Department of Medicine, Division of Cardiovascular Medicine, University of Cambridge, Cambridge, United Kingdom; Université de Paris, PARCC, INSERM, F-75015 Paris, France. Electronic address:

Background: Innate lymphoid cells type 2 (ILC2s) play critical homeostatic functions in peripheral tissues. ILC2s reside in perivascular niches and limit atherosclerosis development.

Objectives: ILC2s also reside in the pericardium but their role in postischemic injury is unknown. Read More

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September 2021

A Multi-Environment Trial Analysis of Frost Susceptibility in Wheat and Barley Under Australian Frost-Prone Field Conditions.

Front Plant Sci 2021 19;12:722637. Epub 2021 Aug 19.

School of Agriculture, Food and Wine, Waite Research Institute, The University of Adelaide, Urrbrae, SA, Australia.

Low temperatures during the flowering period of cereals can lead to floret sterility, yield reduction, and economic losses in Australian crops. In order to breed for improved frost susceptibility, selection methods are urgently required to identify novel sources of frost tolerant germplasm. However, the presence of genotype by environment interactions (i. Read More

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Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism.

EMBO Mol Med 2021 Sep 6:e14554. Epub 2021 Sep 6.

Laboratory for Neurodegenerative Diseases and Personalized Medicine, The Cell Screening Facility for Personalized Medicine, The Shmunis School of Biomedicine and Cancer Research, The George S. Wise Faculty for Life Sciences, Sagol School of Neurosciences, Tel Aviv University, Tel Aviv, Israel.

This work employs adult polyglucosan body disease (APBD) models to explore the efficacy and mechanism of action of the polyglucosan-reducing compound 144DG11. APBD is a glycogen storage disorder (GSD) caused by glycogen branching enzyme (GBE) deficiency causing accumulation of poorly branched glycogen inclusions called polyglucosans. 144DG11 improved survival and motor parameters in a GBE knockin (Gbe ) APBD mouse model. Read More

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September 2021

Key Contributions in Clinical Research Informatics.

Yearb Med Inform 2021 Aug 3;30(1):233-238. Epub 2021 Sep 3.

The University of Gent, Gent, Belgium.

Objectives: To summarize key contributions to current research in the field of Clinical Research Informatics (CRI) and to select best papers published in 2020.

Method: A bibliographic search using a combination of Medical Subject Headings (MeSH) descriptors and free-text terms on CRI was performed using PubMed, followed by a double-blind review in order to select a list of candidate best papers to be then peer-reviewed by external reviewers. After peer-review ranking, a consensus meeting between two section editors and the editorial team was organized to finally conclude on the selected four best papers. Read More

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Behavioral phenotyping of cancer pain in domesticated cats with naturally occurring squamous cell carcinoma of the tongue: initial validation studies provide evidence for regional and widespread algoplasticity.

PeerJ 2021 16;9:e11984. Epub 2021 Aug 16.

Comparative Medicine Institute, North Carolina State University, Raleigh, NC, United States of America.

Feline oral squamous cell carcinoma (FOSCC) is a common and naturally occurring condition that recapitulates many features of human head and neck cancer (HNC). In both species, there is need for improved strategies to reduce pain caused by HNC and its treatment. Research to benefit both species could be conducted using pet cats as a comparative model, but this prospect is limited by lack of validated methods for quantifying FOSCC-associated pain. Read More

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Induced Resistance by Ascorbate Oxidation Involves Potentiating of the Phenylpropanoid Pathway and Improved Rice Tolerance to Parasitic Nematodes.

Front Plant Sci 2021 11;12:713870. Epub 2021 Aug 11.

Department of Biotechnology, Faculty of Bioscience Engineering, Ghent University, Ghent, Belgium.

Anticipating an increased ecological awareness, scientists have been exploring new strategies to reduce the use of chemical pesticides to control pests and diseases. Triggering the intrinsic plant defense system is one of the promising strategies to reduce yield loss by pathogenic organisms, such as nematodes. Ascorbate oxidase (AO) enzyme plays an important role in plant defense by regulating the apoplastic ascorbate/dehydroascorbate (DHA) ratio the ascorbate oxidation process. Read More

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Standardised measurement of coronary inflammation using cardiovascular CT: integration in clinical care as a prognostic medical device.

Cardiovasc Res 2021 Aug 27. Epub 2021 Aug 27.

Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, U.K.

Aims: Coronary CT angiography (CCTA) is a first-line modality in the investigation of suspected coronary artery disease (CAD). Mapping of perivascular Fat Attenuation Index (FAI) on routine CCTA enables the non-invasive detection of coronary artery inflammation by quantifying spatial changes in perivascular fat composition. We now report the performance of a new medical device, CaRi-Heart®, which integrates standardised FAI mapping together with clinical risk factors and plaque metrics to provide individualised cardiovascular risk prediction. Read More

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A novel and efficient approach to high-throughput production of HLA-E/peptide monomer for T-cell epitope screening.

Sci Rep 2021 08 26;11(1):17234. Epub 2021 Aug 26.

P2R "Production de Protéines Recombinantes", Université de Nantes, CRCINA, SFR-Santé, INSERM, CNRS, CHU Nantes, Nantes, France.

Over the past two decades, there has been a great interest in the study of HLA-E-restricted αβ T cells during bacterial and viral infections, including recently SARS-CoV-2 infection. Phenotyping of these specific HLA-E-restricted T cells requires new tools such as tetramers for rapid cell staining or sorting, as well as for the identification of new peptides capable to bind to the HLA-E pocket. To this aim, we have developed an optimal photosensitive peptide to generate stable HLA-E/pUV complexes allowing high-throughput production of new HLA-E/peptide complexes by peptide exchange. Read More

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Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer.

J Pers Med 2021 Jul 27;11(8). Epub 2021 Jul 27.

Department of Molecular Biology and Biochemistry, University of Málaga, 29071 Málaga, Spain.

Exhaustive and comprehensive analysis of pathological traits is essential to understanding genetic diseases, performing precise diagnosis and prescribing personalized treatments. It is particularly important for disease cohorts, as thoroughly detailed phenotypic profiles allow patients to be compared and contrasted. However, many disease cohorts contain patients that have been ascribed low numbers of very general and relatively uninformative phenotypes. Read More

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Identification of markers that distinguish adipose tissue and glucose and insulin metabolism using a multi-modal machine learning approach.

Sci Rep 2021 Aug 23;11(1):17050. Epub 2021 Aug 23.

The Lundberg Laboratory for Diabetes Research, Department of Molecular and Clinical Medicine, The Sahlgrenska Academy at the University of Gothenburg, 413 45, Gothenburg, Sweden.

The study of metabolomics has improved our knowledge of the biology behind type 2 diabetes and its related metabolic physiology. We aimed to investigate markers of adipose tissue morphology, as well as insulin and glucose metabolism in 53 non-obese male individuals. The participants underwent extensive clinical, biochemical and magnetic resonance imaging phenotyping, and we also investigated non-targeted serum metabolites. Read More

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What is a β cell? - Chapter I in the Human Islet Research Network (HIRN) review series.

Mol Metab 2021 Aug 17;53:101323. Epub 2021 Aug 17.

Division of Diabetes, Endocrinology, and Metabolism, Department of Medicine, Vanderbilt University Medical Center, and VA Tennessee Valley Healthcare System, Nashville, TN, USA. Electronic address:

Background: The pancreatic β cell, as the sole source of the vital hormone insulin, has been under intensive study for more than a century. Given the potential of newly created insulin-producing cells as a treatment or even cure of type 1 diabetes (T1D) and possibly in severe cases of type 2 diabetes (T2D), multiple academic and commercial laboratories are working to derive surrogate glucose-responsive, insulin-producing cells.

Scope Of Review: The recent development of advanced phenotyping technologies, including molecular, epigenomic, histological, or functional, have greatly improved our understanding of the critical properties of human β cells. Read More

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Prognostic factors, symptom evolution, and quality of life of posttraumatic trigeminal neuropathy.

Pain 2021 Jul 13. Epub 2021 Jul 13.

Department of Oral and Maxillofacial Surgery, University Hospitals Leuven, Leuven, Belgium OMFS-IMPATH Research Group, Department of Imaging and Pathology, Faculty of Medicine, University Leuven, Leuven, Belgium Department of Oral Health Sciences, KU Leuven and Department of Dentistry, University Hospitals, Leuven, Belgium Department of Dental Medicine, Karolinksa Institutet, Stockholm, Sweden Department of Oral Surgery, King's College London Dental Institute, London, United Kingdom.

Abstract: Neurosensory disturbances (NSDs) caused by injury to the trigeminal nerve can affect many aspects of daily life. However, factors affecting the persistence of NSDs in patients with posttraumatic trigeminal neuropathies (PTTNs) remain largely unknown. The identification of such risk factors will allow for the phenotyping of patients with PTTNs, which is crucial for improving treatment strategies. Read More

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AncPhore: A versatile tool for anchor pharmacophore steered drug discovery with applications in discovery of new inhibitors targeting metallo--lactamases and indoleamine/tryptophan 2,3-dioxygenases.

Acta Pharm Sin B 2021 Jul 26;11(7):1931-1946. Epub 2021 Jan 26.

Key Laboratory of Drug-Targeting and Drug Delivery System of the Education Ministry and Sichuan Province, Department of Medicinal Chemistry, West China School of Pharmacy, Sichuan University, Chengdu 610041, China.

We herein describe AncPhore, a versatile tool for drug discovery, which is characterized by pharmacophore feature analysis and anchor pharmacophore (, most important pharmacophore features) steered molecular fitting and virtual screening. Comparative analyses of numerous protein-ligand complexes using AncPhore revealed that anchor pharmacophore features are biologically important, commonly associated with protein conservative characteristics, and have significant contributions to the binding affinity. Performance evaluation of AncPhore showed that it had substantially improved prediction ability on different types of target proteins including metalloenzymes by considering the specific contributions and diversity of anchor pharmacophore features. Read More

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Heart Failure with Preserved Ejection Fraction: Mechanisms and Treatment Strategies.

Annu Rev Med 2021 Aug 11. Epub 2021 Aug 11.

Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA; email:

Approximately half of all patients with heart failure (HF) have a preserved ejection fraction, and the prevalence is growing rapidly given the aging population in many countries and the rising prevalence of obesity, diabetes, and hypertension. Functional capacity and quality of life are severely impaired in heart failure with preserved ejection fraction (HFpEF), and morbidity and mortality are high. In striking contrast to HF with reduced ejection fraction, there are few effective treatments currently identified for HFpEF, and these are limited to decongestion by diuretics, promotion of a healthy active lifestyle, and management of comorbidities. Read More

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Next-Generation Breeding Strategies for Climate-Ready Crops.

Front Plant Sci 2021 21;12:620420. Epub 2021 Jul 21.

Centre of Agricultural Biochemistry and Biotechnology (CABB), University of Agriculture, Faisalabad, Pakistan.

Climate change is a threat to global food security due to the reduction of crop productivity around the globe. Food security is a matter of concern for stakeholders and policymakers as the global population is predicted to bypass 10 billion in the coming years. Crop improvement modern breeding techniques along with efficient agronomic practices innovations in microbiome applications, and exploiting the natural variations in underutilized crops is an excellent way forward to fulfill future food requirements. Read More

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Diagnostic Potential of the Plasma Lipidome in Infectious Disease: Application to Acute SARS-CoV-2 Infection.

Metabolites 2021 Jul 20;11(7). Epub 2021 Jul 20.

Australian National Phenome Centre, Health Futures Institute, Harry Perkins Institute, Murdoch University, 5 Robin Warren Drive, Perth, WA 6150, Australia.

Improved methods are required for investigating the systemic metabolic effects of SARS-CoV-2 infection and patient stratification for precision treatment. We aimed to develop an effective method using lipid profiles for discriminating between SARS-CoV-2 infection, healthy controls, and non-SARS-CoV-2 respiratory infections. Targeted liquid chromatography-mass spectrometry lipid profiling was performed on discovery (20 SARS-CoV-2-positive; 37 healthy controls; 22 COVID-19 symptoms but SARS-CoV-2negative) and validation (312 SARS-CoV-2-positive; 100 healthy controls) cohorts. Read More

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The effects of sustained fitness improvement on the gut microbiome: A longitudinal, repeated measures case-study approach.

Transl Sports Med 2021 Mar 13;4(2):174-192. Epub 2020 Dec 13.

APC Microbiome Ireland National University of Ireland Cork Ireland.

The athlete gut microbiome differs from that of non-athletes in its composition and metabolic function. Short-term fitness improvement in sedentary adults does not replicate the microbiome characteristics of athletes. The objective of this study was to investigate whether sustained fitness improvement leads to pronounced alterations in the gut microbiome. Read More

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Defining strawberry shape uniformity using 3D imaging and genetic mapping.

Hortic Res 2020 Aug 1;7(1):115. Epub 2020 Aug 1.

NIAB EMR, East Malling, Kent, ME19 6BJ, UK.

Strawberry shape uniformity is a complex trait, influenced by multiple genetic and environmental components. To complicate matters further, the phenotypic assessment of strawberry uniformity is confounded by the difficulty of quantifying geometric parameters 'by eye' and variation between assessors. An in-depth genetic analysis of strawberry uniformity has not been undertaken to date, due to the lack of accurate and objective data. Read More

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Optimization of Sample Preparation for Metabolomics Exploration of Urine, Feces, Blood and Saliva in Humans Using Combined NMR and UHPLC-HRMS Platforms.

Molecules 2021 Jul 6;26(14). Epub 2021 Jul 6.

UMR 1253, iBrain, University of Tours, Inserm, 37044 Tours, France.

Currently, most clinical studies in metabolomics only consider a single type of sample such as urine, plasma, or feces and use a single analytical platform, either NMR or MS. Although some studies have already investigated metabolomics data from multiple fluids, the information is limited to a unique analytical platform. On the other hand, clinical studies investigating the human metabolome that combine multi-analytical platforms have focused on a single biofluid. Read More

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Carbon Nanotubes Induce Metabolomic Profile Disturbances in Zebrafish: NMR-Based Metabolomics Platform.

Front Mol Biosci 2021 2;8:688827. Epub 2021 Jul 2.

Institute for Liver and Digestive Diseases, Hallym University, Chuncheon, Korea.

The present study aims to investigate the metabolic effects of single-walled carbon nanotubes (SWCNT) on zebrafish () using H nuclear magnetic resonance (H-NMR) spectroscopy. However, there is no significant information available regarding the characterization of organic molecules, and metabolites with SWCNT exposure. Noninvasive biofluid methods have improved our understanding of SWCNT metabolism in zebrafish in recent years. Read More

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Advances in Imaging Modalities, Artificial Intelligence, and Single Cell Biomarker Analysis, and Their Applications in Cytopathology.

Front Med (Lausanne) 2021 2;8:689954. Epub 2021 Jul 2.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at the University of California, Los Angeles, CA, United States.

Several advances in recent decades in digital imaging, artificial intelligence, and multiplex modalities have improved our ability to automatically analyze and interpret imaging data. Imaging technologies such as optical coherence tomography, optical projection tomography, and quantitative phase microscopy allow analysis of tissues and cells in 3-dimensions and with subcellular granularity. Improvements in computer vision and machine learning have made algorithms more successful in automatically identifying important features to diagnose disease. Read More

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An image registration framework to estimate 3D myocardial strains from cine cardiac MRI in mice.

Funct Imaging Model Heart 2021 Jun 18;12738:273-284. Epub 2021 Jun 18.

Department of Biomedical Engineering, Texas A&M University, College Station, TX 77843, USA.

Accurate and efficient quantification of cardiac motion offers promising biomarkers for non-invasive diagnosis and prognosis of structural heart diseases. Cine cardiac magnetic resonance imaging remains one of the most advanced imaging tools to provide image acquisitions needed to assess and quantify in-vivo heart kinematics. The majority of cardiac motion studies are focused on human data, and there remains a need to develop and implement an image-registration pipeline to quantify full three-dimensional (3D) cardiac motion in mice where ideal image acquisition is challenged by the subject size and heart rate and the possibility of traditional tagged imaging is hampered. Read More

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Validation of a novel associative transcriptomics pipeline in Brassica oleracea: identifying candidates for vernalisation response.

BMC Genomics 2021 Jul 13;22(1):539. Epub 2021 Jul 13.

Department of Crop Genetics, John Innes Centre, NR47UH, Norwich, UK.

Background: Associative transcriptomics has been used extensively in Brassica napus to enable the rapid identification of markers correlated with traits of interest. However, within the important vegetable crop species, Brassica oleracea, the use of associative transcriptomics has been limited due to a lack of fixed genetic resources and the difficulties in generating material due to self-incompatibility. Within Brassica vegetables, the harvestable product can be vegetative or floral tissues and therefore synchronisation of the floral transition is an important goal for growers and breeders. Read More

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Predicting Depression From Smartphone Behavioral Markers Using Machine Learning Methods, Hyperparameter Optimization, and Feature Importance Analysis: Exploratory Study.

JMIR Mhealth Uhealth 2021 07 12;9(7):e26540. Epub 2021 Jul 12.

Center for Ubiquitous Computing, University of Oulu, Oulu, Finland.

Background: Depression is a prevalent mental health challenge. Current depression assessment methods using self-reported and clinician-administered questionnaires have limitations. Instrumenting smartphones to passively and continuously collect moment-by-moment data sets to quantify human behaviors has the potential to augment current depression assessment methods for early diagnosis, scalable, and longitudinal monitoring of depression. Read More

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Multiple Country and Breed Genomic Prediction of Tick Resistance in Beef Cattle.

Front Immunol 2021 23;12:620847. Epub 2021 Jun 23.

Queensland Alliance for Agriculture and Food Innovation, University of Queensland, St Lucia, QLD, Australia.

Ticks cause substantial production losses for beef and dairy cattle. Cattle resistance to ticks is one of the most important factors affecting tick control, but largely neglected due to the challenge of phenotyping. In this study, we evaluate the pooling of tick resistance phenotyped reference populations from multi-country beef cattle breeds to assess the possibility of improving host resistance through multi-trait genomic selection. Read More

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September 2021

Membrane Feature-Inspired Profiling of Extracellular Vesicles for Pancreatic Cancer Diagnosis.

Anal Chem 2021 07 12;93(28):9860-9868. Epub 2021 Jul 12.

Department of Biomedical Engineering, School of Engineering, China Pharmaceutical University, Nanjing 211198, China.

Extracellular vesicles (EVs) have recently emerged as a promising tumor biomarker, and EV phenotyping offers many benefits for cancer diagnosis. However, the practicality of EV assays remains a challenge due to macromolecule disturbances, biomarker heterogeneities, and EV abundance limitations. Here, we demonstrate a membrane-based biosensor for precise and sensitive EV identification. Read More

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Genome wide association study of agronomic and seed traits in a world collection of proso millet (Panicum miliaceum L.).

BMC Plant Biol 2021 Jul 9;21(1):330. Epub 2021 Jul 9.

Institute of Life Sciences, Scuola Superiore Sant'Anna, Pisa, Italy.

Background: The climate crisis threatens sustainability of crop production worldwide. Crop diversification may enhance food security while reducing the negative impacts of climate change. Proso millet (Panicum milaceum L. Read More

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