17,495 results match your criteria phenotyping


Lack of 5-lipoxygenase in intramembranous and endochondral 129Sv mice skeleton and intramembranous healing.

Arch Oral Biol 2021 Sep 20;131:105266. Epub 2021 Sep 20.

Department of Basic Sciences, São Paulo State University (UNESP), School of Dentistry, Araçatuba, São Paulo, Brazil.

Objective: To analyze the lack of 5-lipoxygenase (5LO) on dental socket healing and post-natal phenotype of intramembranous and endochondral bones.

Design: Wild type (WT) 129/SvEv (n = 20) and 5LO knockout (5LOKO) (n = 20) male mice underwent tooth extraction of the upper right incisor and were euthanized after 7, 14, and 30 day time points for the evaluation of dental socket healing and histological phenotyping of intramembranous (IM) and endochondral (EC) bones. Microscopic analysis of alveolar sockets included histopathological description, histomorphometry, and immunohistochemistry for 5LO, cyclooxygenase 2 (COX2), and tartrate resistant acid phosphatase (TRAP). Read More

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September 2021

Enabling High Structural Specificity to Lipidomics by Coupling Photochemical Derivatization with Tandem Mass Spectrometry.

Acc Chem Res 2021 Sep 27. Epub 2021 Sep 27.

State Key Laboratory of Precision Measurement Technology and Instruments, Department of Precision Instrument, Tsinghua University, Beijing 100084, China.

ConspectusLipids have pivotal roles in many biological processes, including energy storage, signal transduction, and plasma membrane formation. A disruption of lipid homeostasis is found to be associated with a range of diseases, such as cardiovascular diseases, diabetes, and cancer. Fundamental lipid biology and disease diagnostics can benefit from monitoring lipid changes in cells, tissues, organs, or the whole biological system. Read More

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September 2021

Critical Conditions for Studying Interleukin-11 Signaling In Vitro and Avoiding Experimental Artefacts.

Curr Protoc 2021 Sep;1(9):e251

Duke-National University of Singapore Medical School, Singapore.

Interleukin (IL) 11 is a member of the IL6 family of cytokines which require the ubiquitous gp130 receptor to activate canonical (JAK/STAT) and non-canonical (e.g., ERK) signaling pathways. Read More

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September 2021

Indel Detection following CRISPR/Cas9 Mutagenesis using High-resolution Melt Analysis in the Mosquito Aedes aegypti.

J Vis Exp 2021 Sep 10(175). Epub 2021 Sep 10.

Department of Entomology and Agrilife Research, Texas A&M University;

Mosquito gene editing has become routine in several laboratories with the establishment of systems such as transcription-activator-like effector nucleases (TALENs), zinc-finger nucleases (ZFNs), and homing endonucleases (HEs). More recently, clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) technology has offered an easier and cheaper alternative for precision genome engineering. Following nuclease action, DNA repair pathways will fix the broken DNA ends, often introducing indels. Read More

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September 2021

EYS-Associated Sector Retinitis Pigmentosa.

Graefes Arch Clin Exp Ophthalmol 2021 Sep 27. Epub 2021 Sep 27.

Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.

Purpose: Sector retinitis pigmentosa (RP) is a rare form of rod-cone degeneration typically associated with mutations in the RHO gene. We describe six unrelated patients presenting with this atypical phenotype in association with biallelic mutations in EYS gene.

Methods: Multinational, multicentre cross-sectional case series. Read More

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September 2021

Automated phenotyping of embryos with a high-throughput-screening microfluidic platform.

Microsyst Nanoeng 2020 6;6:24. Epub 2020 Apr 6.

Laboratory of Microsystems, Ecole Polytechnique Fédérale de Lausanne, 1015 Lausanne, Switzerland.

The nematode has been extensively used as a model multicellular organism to study the influence of osmotic stress conditions and the toxicity of chemical compounds on developmental and motility-associated phenotypes. However, the several-day culture of nematodes needed for such studies has caused researchers to explore alternatives. In particular, embryos, due to their shorter developmental time and immobile nature, could be exploited for this purpose, although usually their harvesting and handling is tedious. Read More

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The role of diffusion tensor imaging of the liver in children with autoimmune hepatitis.

Pol J Radiol 2021 2;86:e461-e467. Epub 2021 Aug 2.

Department of Diagnostic Radiology, Mansoura Faculty of Medicine, Mansoura University, Mansoura, Egypt.

Purpose: To evaluate the role of diffusion tensor imaging (DTI) of the liver in children with autoimmune hepatitis (AIH).

Material And Methods: A prospective study was done on 42 children with AIH (30 girls and 12 boys, with a mean age of 13 years) and 20 age- and sex-matched healthy control children. They underwent DTI of the liver and laboratory tests. Read More

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Immunomonitoring of Human Breast Milk Cells During HCMV-Reactivation.

Front Immunol 2021 9;12:723010. Epub 2021 Sep 9.

Department of Immunology, Interfaculty Institute for Cell Biology, University of Tübingen, Tübingen, Germany.

Background: Breast milk leukocytes may play a role in protecting the infant from pathogens. The dynamics and the role of lymphocytes in human cytomegalovirus (HCMV)-seropositive mothers shedding HCMV into breast milk during the first months postpartum (p.p. Read More

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September 2021

Comparative Genome Analysis and Spore Heat Resistance Assay Reveal a New Component to Population Structure and Genome Epidemiology Within Enterotoxin-Carrying Isolates.

Front Microbiol 2021 8;12:717176. Epub 2021 Sep 8.

Department of Food Hygiene and Environmental Health, University of Helsinki, Helsinki, Finland.

causes a variety of human and animal enteric diseases including food poisoning, antibiotic-associated diarrhea, and necrotic enteritis. Yet, the reservoirs of enteropathogenic enterotoxin-producing strains remain unknown. We conducted a genomic comparison of 290 strains and a heat resistance phenotyping of 30 strains to elucidate the population structure and ecology of this pathogen. Read More

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September 2021

Mechanisms Underlying Motivational Dysfunction in Schizophrenia.

Front Behav Neurosci 2021 10;15:709753. Epub 2021 Sep 10.

Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.

Negative symptoms are a debilitating feature of schizophrenia which are often resistant to pharmacological intervention. The mechanisms underlying them remain poorly understood, and diagnostic methods rely on phenotyping through validated questionnaires. Deeper endo-phenotyping is likely to be necessary in order to improve current understanding. Read More

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September 2021

Dyslipidemia in pediatrician's practice.

Rev Cardiovasc Med 2021 Sep;22(3):817-834

Department of Normal Physiology, Kuban State Medical University, 350063 Krasnodar, Russia.

Atherosclerosis ranks first among cardiovascular system diseases. It is the "disease of the century", and more than 50% of people with circulatory pathology die of it. The clinical manifestation of atherosclerosis is observed at the middle and older ages, but it is known that the pathological process develops much earlier. Read More

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September 2021

Integrative analysis of metabolomic, genomic, and imaging-based phenotypes identify very-low-density lipoprotein as a potential risk factor for lumbar Modic changes.

Eur Spine J 2021 Sep 25. Epub 2021 Sep 25.

Department of Orthopaedics and Traumatology, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.

Purpose: Modic changes (MC) on magnetic resonance imaging (MRI) have been associated with the development and severity of low back pain (LBP). The etiology of MC remains elusive, but it has been suggested that altered metabolism may be a risk factor. As such, this study aimed to identify metabolomic biomarkers for MC phenotypes of the lumbar spine via a combined metabolomic-genomic approach. Read More

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September 2021

A Metabolomics Approach and Chemometric Tools for Differentiation of Barley Cultivars and Biomarker Discovery.

Metabolites 2021 Aug 26;11(9). Epub 2021 Aug 26.

Research Centre for Plant Metabolomics, Department of Biochemistry, University of Johannesburg, P.O. Box 524, Auckland Park, Johannesburg 2006, South Africa.

One of the ultimate goals of plant breeding is the development of new crop cultivars capable of withstanding increasing environmental stresses, to sustain the constantly growing population and economic demands. Investigating the chemical composition of the above and underground tissues of cultivars is crucial for the understanding of common and specific traits thereof. Using an untargeted metabolomics approach together with appropriate chemometrics tools, the differential metabolite profiles of leaf and root extracts from five cultivars of barley ('Erica', 'Elim', 'Hessekwa', 'S16' and 'Agulhas') were explored and potential signatory biomarkers were revealed. Read More

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Advancement in Detection Methods: From Conventional to Electrochemical-Based Sensing Detection.

Biosensors (Basel) 2021 Sep 18;11(9). Epub 2021 Sep 18.

Collaborative Microelectronic Design Excellence Centre (CEDEC), [email protected], Universiti Sains Malaysia, Level 1, Block C, No. 10 Persiaran Bukit Jambul, Bayan Lepas 11900, Malaysia.

Large-scale food-borne outbreaks caused by are rarely seen nowadays, thanks to the advanced nature of the medical system. However, small, localised outbreaks in certain regions still exist and could possess a huge threat to the public health if eradication measure is not initiated. This review discusses the progress of detection approaches covering their basic principles, characteristics, applications, and performances. Read More

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September 2021

A comprehensive digital phenotype for postpartum hemorrhage.

J Am Med Inform Assoc 2021 Sep 24. Epub 2021 Sep 24.

Sema4, Stamford, Connecticut, USA.

Objective: We aimed to establish a comprehensive digital phenotype for postpartum hemorrhage (PPH). Current guidelines rely primarily on estimates of blood loss, which can be inaccurate and biased and ignore complementary information readily available in electronic medical records (EMR). Inaccurate and incomplete phenotyping contributes to ongoing challenges in tracking PPH outcomes, developing more accurate risk assessments, and identifying novel interventions. Read More

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September 2021

Recurrent preterm birth risk assessment for two delivery subtypes: A multivariable analysis.

J Am Med Inform Assoc 2021 Sep 24. Epub 2021 Sep 24.

Institute for Computational Medicine, Whiting School of Engineering, Johns Hopkins University, Baltimore, Maryland, USA.

Objective: The study sought to develop and apply a framework that uses a clinical phenotyping tool to assess risk for recurrent preterm birth.

Materials And Methods: We extended an existing clinical phenotyping tool and applied a 4-step framework for our retrospective cohort study. The study was based on data collected in the Genomic and Proteomic Network for Preterm Birth Research Longitudinal Cohort Study (GPN-PBR LS). Read More

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September 2021

Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: Results from the developmental Synaptopathies consortium.

Hum Mol Genet 2021 Sep 24. Epub 2021 Sep 24.

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Individuals with Phelan-McDermid syndrome (PMS) present with a wide range of developmental, medical, cognitive, and behavioral abnormalities. Previous literature has begun to elucidate genotype-phenotype associations that may contribute to the wide spectrum of features. Here, we report results of genotype-phenotype associations in a cohort of 170 individuals with PMS. Read More

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September 2021

Sleep duration, sleep problems and perceived stress are associated with hippocampal subfield volumes in later life: Findings from The Irish Longitudinal Study on Ageing (TILDA).

Sleep 2021 Sep 24. Epub 2021 Sep 24.

The Irish Longitudinal Study on Ageing, Trinity College Dublin, Ireland.

Study Objectives: This study examines the cross-sectional and two-year follow-up relationships between sleep and stress and total hippocampal volume and hippocampal subfield volumes among older adults.

Methods: 417 adults (aged 68.8±7. Read More

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September 2021

Imaging modalities for diagnosis and monitoring of cancer cachexia.

EJNMMI Res 2021 Sep 23;11(1):94. Epub 2021 Sep 23.

Department of Diagnostic and Interventional Radiology, Klinikum Rechts Der Isar, TUM School of Medicine, Technical University of Munich, Ismaninger Str. 22, 81675, Munich, Germany.

Cachexia, a multifactorial wasting syndrome, is highly prevalent among advanced-stage cancer patients. Unlike weight loss in healthy humans, the progressive loss of body weight in cancer cachexia primarily implicates lean body mass, caused by an aberrant metabolism and systemic inflammation. This may lead to disease aggravation, poorer quality of life, and increased mortality. Read More

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September 2021

The pharmacoeconomics of the state-of-the-art drug treatments for asthma: a systematic review.

Multidiscip Respir Med 2021 Jan 2;16(1):787. Epub 2021 Aug 2.

Pneumology Unit, Arcispedale Santa Maria Nuova, Azienda USL di Reggio Emilia IRCCS, Reggio Emilia.

Asthma is a chronic disease characterized by significant morbidities and mortality, with a large impact on socio-economic resources and a considerable burden on health-care systems. In the standard care of asthma, inhaled corticosteroids (ICS) associated with long-acting β-adrenoceptor agonists (LABA) are a reliable and often cost-effective choice, especially if based on the single inhaler therapy (SIT) strategy; however, in a subset of patients it is not possible to reach an adequate asthma control. In these cases, it is possible to resort to other pharmacologic options, including corticosteroids (OCS) or biologics. Read More

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January 2021

Estimated Prevalence and Number of PiMZ Genotypes of Alpha-1 Antitrypsin in Seventy-Four Countries Worldwide.

Int J Chron Obstruct Pulmon Dis 2021 17;16:2617-2630. Epub 2021 Sep 17.

Pneumology Department, Hospital Universitari Vall d'Hebron/Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, Spain.

Background: The α-1 antitrypsin (AAT) protease inhibitor PiMZ is a moderately deficient genotype, until recently considered of little or negligible risk. However, a growing number of studies show that MZ carriers have an increased risk of developing lung and liver diseases, if exposed to smoking or other airborne or industrial pollutants, and hepatotoxic substances.

Methods: We used the epidemiological studies performed to determine the frequencies of PiM and PiZ worldwide, based on the following criteria: 1) samples representative of the general population; 2) AAT phenotyping or genotyping characterized by adequate methods, including isoelectric focusing and polymerase chain reaction; and 3) studies with reliable results assessed with a coefficient of variation calculated from the sample size and 95% confidence intervals, to measure the precision of the results in terms of dispersion of the data around the mean. Read More

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September 2021

Understanding the burden of interstitial lung disease post-COVID-19: the UK Interstitial Lung Disease-Long COVID Study (UKILD-Long COVID).

BMJ Open Respir Res 2021 Sep;8(1)

Centre for Inflammation and Tissue Repair, UCL Respiratory, University College London, London, UK.

Introduction: The COVID-19 pandemic has led to over 100 million cases worldwide. The UK has had over 4 million cases, 400 000 hospital admissions and 100 000 deaths. Many patients with COVID-19 suffer long-term symptoms, predominantly breathlessness and fatigue whether hospitalised or not. Read More

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September 2021

Automation assisted anaerobic phenotyping for metabolic engineering.

Microb Cell Fact 2021 Sep 23;20(1):184. Epub 2021 Sep 23.

Department of Chemical Engineering and Applied Chemistry, University of Toronto, 200 College Street, Toronto, M5S 3E5, Canada.

Background: Microorganisms can be metabolically engineered to produce a wide range of commercially important chemicals. Advancements in computational strategies for strain design and synthetic biological techniques to construct the designed strains have facilitated the generation of large libraries of potential candidates for chemical production. Consequently, there is a need for high-throughput laboratory scale techniques to characterize and screen these candidates to select strains for further investigation in large scale fermentation processes. Read More

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September 2021

Anatomical phenotyping and staging of brain tumours.

Brain 2021 Sep 23. Epub 2021 Sep 23.

Department of Neurosurgery, Clinical Neuroscience Center, University Hospital Zurich and University of Zurich, 8091 Zurich, Switzerland.

Unlike other tumors, the anatomical extent of brain tumors is not objectified and quantified through staging. Staging systems are based on understanding the anatomical sequence of tumor progression and its relationship to histopathological dedifferentiation and survival. The aim of this study was to describe the spatiotemporal phenotype of the most frequent brain tumor entities, to assess the association of anatomical tumor features with survival probability and to develop a staging system for WHO grade 2 and 3 gliomas and glioblastoma. Read More

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September 2021

Common host variation drives malaria parasite fitness in healthy human red cells.

Elife 2021 Sep 23;10. Epub 2021 Sep 23.

Stanford University School of Medicine, Stanford, United States.

The replication of parasites within red blood cells (RBCs) causes severe disease in humans, especially in Africa. Deleterious alleles like hemoglobin S are well-known to confer strong resistance to malaria, but the effects of common RBC variation are largely undetermined. Here we collected fresh blood samples from 121 healthy donors, most with African ancestry, and performed exome sequencing, detailed RBC phenotyping, and parasite fitness assays. Read More

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September 2021

Phe2vec: Automated disease phenotyping based on unsupervised embeddings from electronic health records.

Patterns (N Y) 2021 Sep 2;2(9):100337. Epub 2021 Sep 2.

Hasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Pl, New York, NY 10029, USA.

Robust phenotyping of patients from electronic health records (EHRs) at scale is a challenge in clinical informatics. Here, we introduce Phe2vec, an automated framework for disease phenotyping from EHRs based on unsupervised learning and assess its effectiveness against standard rule-based algorithms from Phenotype KnowledgeBase (PheKB). Phe2vec is based on pre-computing embeddings of medical concepts and patients' clinical history. Read More

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September 2021

Neurobehavioural comorbidities of epilepsy: towards a network-based precision taxonomy.

Nat Rev Neurol 2021 Sep 22. Epub 2021 Sep 22.

Department of Psychiatry and Center for Multimodal Imaging and Genetics, University of California, San Diego, San Diego, CA, USA.

Cognitive and behavioural comorbidities are prevalent in childhood and adult epilepsies and impose a substantial human and economic burden. Over the past century, the classic approach to understanding the aetiology and course of these comorbidities has been through the prism of the medical taxonomy of epilepsy, including its causes, course, characteristics and syndromes. Although this 'lesion model' has long served as the organizing paradigm for the field, substantial challenges to this model have accumulated from diverse sources, including neuroimaging, neuropathology, neuropsychology and network science. Read More

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September 2021

C3 Glomerulopathy and Related Disorders in Children.

Clin J Am Soc Nephrol 2021 Sep 22. Epub 2021 Sep 22.

S Johnson, National Renal Complement Therapeutics Centre, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom of Great Britain and Northern Ireland.

: Membranoproliferative Glomerulonephritis (MPGN) and C3 Glomerulopathy are rare and overlapping disorders associated with dysregulation of the alternative complement pathway. Specific aetiological data for paediatric MPGN/C3 glomerulopathy are lacking, and outcome data are based upon retrospective studies without aetiological data. : Eighty prevalent pediatric patients with MPGN/C3 glomerulopathy underwent detailed phenotyping and long-term follow-up within the National Registry of Rare Kidney Diseases (RaDaR). Read More

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September 2021

Pcpe2, a Novel Extracellular Matrix Protein, Regulates Adipocyte SR-BI-Mediated High-Density Lipoprotein Uptake.

Arterioscler Thromb Vasc Biol 2021 Sep 23:ATVBAHA121316615. Epub 2021 Sep 23.

Department of Medicine, Division of Endocrinology and Molecular Medicine, Medical College of Wisconsin, Milwaukee. (H.X., S.K., A.B.O., E.M., B.G., D.S., M.G.S.-T.).

Objective: To investigate the role of adipocyte Pcpe2 (procollagen C-endopeptidase enhancer 2) in SR-BI (scavenger receptor class BI)-mediated HDL-C (high-density lipoprotein cholesterol) uptake and contributions to adipose lipid storage. Approach and Results: Pcpe2, a glycoprotein devoid of intrinsic proteolytic activity, is believed to participate in extracellular protein-protein interactions, supporting SR-BI- mediated HDL-C uptake. In published studies, Pcpe2 deficiency increased the development of atherosclerosis by reducing SR-BI-mediated HDL-C catabolism, but the biological impact of this deficiency on adipocyte SR-BI-mediated HDL-C uptake is unknown. Read More

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September 2021