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  1. Article ; Online: Topical corticosteroid withdrawal syndrome: the patient community call for high-quality research, clear definitions and diagnostic criteria.

    Howells, Laura / Broome, Holly / Burleigh, Alice / Hammond, Harriet / Ismail, Farhan / Proctor, Andrew / Roberts, Amanda / Thomas, Kim S / Leighton, Paul

    The British journal of dermatology

    2023  Volume 188, Issue 2, Page(s) 288–289

    MeSH term(s) Humans ; Substance Withdrawal Syndrome/diagnosis ; Substance Withdrawal Syndrome/etiology ; Administration, Topical ; Adrenal Cortex Hormones/adverse effects
    Chemical Substances Adrenal Cortex Hormones
    Language English
    Publishing date 2023-02-09
    Publishing country England
    Document type Journal Article
    ZDB-ID 80076-4
    ISSN 1365-2133 ; 0007-0963
    ISSN (online) 1365-2133
    ISSN 0007-0963
    DOI 10.1093/bjd/ljac067
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours.

    McCreary, Dara / Omoyinmi, Ebun / Hong, Ying / Jensen, Barbara / Burleigh, Alice / Price-Kuehne, Fiona / Gilmour, Kimberly / Eleftheriou, Despina / Brogan, Paul

    Frontiers in immunology

    2022  Volume 13, Page(s) 998967

    Abstract: There is an important unmet clinical need for fast turnaround next generation sequencing (NGS) to aid genetic diagnosis of patients with acute and sometimes catastrophic inflammatory presentations. This is imperative for patients who require precise and ... ...

    Abstract There is an important unmet clinical need for fast turnaround next generation sequencing (NGS) to aid genetic diagnosis of patients with acute and sometimes catastrophic inflammatory presentations. This is imperative for patients who require precise and targeted treatment to prevent irreparable organ damage or even death. Acute and severe hyper- inflammation may be caused by primary immunodeficiency (PID) with immune dysregulation, or more typical autoinflammatory diseases in the absence of obvious immunodeficiency. Infectious triggers may be present in either immunodeficiency or autoinflammation. We compiled a list of 25 genes causing monogenetic immunological diseases that are notorious for their acute first presentation with fulminant inflammation and which may be amenable to specific treatment, including hemophagocytic lymphohistiocytosis (HLH); and autoinflammatory diseases that can present with early-onset stroke or other irreversible neurological inflammatory complications. We designed and validated a pipeline that enabled return of clinically actionable results in hours rather than weeks: the Rapid Autoinflammation Panel (RAP). We demonstrated accuracy of this new pipeline, with 100% sensitivity and 100% specificity. Return of results to clinicians was achieved within 48-hours from receiving the patient's blood or saliva sample. This approach demonstrates the potential significant diagnostic impact of NGS in acute medicine to facilitate precision medicine and save "life or limb" in these critical situations.
    MeSH term(s) Hereditary Autoinflammatory Diseases/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Immune System Diseases ; Immunologic Deficiency Syndromes/genetics ; Inflammation/genetics
    Language English
    Publishing date 2022-09-20
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2606827-8
    ISSN 1664-3224 ; 1664-3224
    ISSN (online) 1664-3224
    ISSN 1664-3224
    DOI 10.3389/fimmu.2022.998967
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Genetic testing of Behçet's disease using next-generation sequencing to identify monogenic mimics and HLA-B*51.

    Burleigh, Alice / Omoyinmi, Ebun / Papadopoulou, Charalampia / Al-Abadi, Eslam / Hong, Ying / Price-Kuehne, Fiona / Moraitis, Elena / Titheradge, Hannah / Montesi, Francesca / Xu, Diane / Eleftheriou, Despina / Brogan, Paul

    Rheumatology (Oxford, England)

    2023  

    Abstract: Objective: Several monogenic autoinflammatory disorders and primary immunodeficiencies can present early in life with features that may be mistaken for Behçet's disease (BD). We aimed to develop a genetic analysis workflow to identify rare monogenic BD- ... ...

    Abstract Objective: Several monogenic autoinflammatory disorders and primary immunodeficiencies can present early in life with features that may be mistaken for Behçet's disease (BD). We aimed to develop a genetic analysis workflow to identify rare monogenic BD-like diseases and establish the contribution of HLA haplotype in a cohort of patients from the UK.
    Methods: Patients with clinically suspected BD were recruited from four BD specialist care centres in the UK. All participants underwent whole exome sequencing (WES), and genetic analysis thereafter by 1. examining genes known to cause monogenic immunodeficiency, autoinflammation or vasculitis by virtual panel application; 2. scrutiny of variants prioritised by Exomiser using Human Phenotype Ontology (HPO); 3. identification of copy number variants using ExomeDepth; and 4. HLA-typing using OptiType.
    Results: Thirty-one patients were recruited: median age 15 (4-52), and median disease onset age 5 (0-20). Nine/31 (29%) patients had monogenic disease mimicking BD: 5 cases of Haploinsufficiency of A20 with novel TNFAIP3 variants (p.T76I, p.M112Tfs*8, p.S548Dfs*128, p.C657Vfs*14, p.E661Nfs*36); 1 case of ISG15 deficiency with a novel nonsense variant (ISG15:p.Q16X) and 1p36.33 microdeletion; 1 case of Common variable immune deficiency (TNFRSF13B:p.A181E); and 2 cases of TNF receptor associated periodic syndrome (TNFRSF1A:p.R92Q). Of the remaining 22 patients, 8 (36%) were HLA-B*51 positive.
    Conclusion: We describe a novel genetic workflow for BD, which can efficiently detect known and potentially novel monogenic forms of BD, whilst additionally providing HLA-typing. Our results highlight the importance of genetic testing before BD diagnosis, since this has impact on choice of therapy, prognosis, and genetic counselling.
    Language English
    Publishing date 2023-11-25
    Publishing country England
    Document type Journal Article
    ZDB-ID 1464822-2
    ISSN 1462-0332 ; 1462-0324
    ISSN (online) 1462-0332
    ISSN 1462-0324
    DOI 10.1093/rheumatology/kead628
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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    Zs.MO 497: Show issues

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  4. Article ; Online: Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in

    Cooray, Samantha / Price-Kuehne, Fiona / Hong, Ying / Omoyinmi, Ebun / Burleigh, Alice / Gilmour, Kimberly C / Ahmad, Bilal / Choi, Sangdun / Bahar, Mohammad W / Torpiano, Paul / Gagunashvili, Andrey / Jensen, Barbara / Bellos, Evangelos / Sancho-Shimizu, Vanessa / Herberg, Jethro A / Mankad, Kshitij / Kumar, Atul / Kaliakatsos, Marios / Worth, Austen J J /
    Eleftheriou, Despina / Whittaker, Elizabeth / Brogan, Paul A

    Frontiers in immunology

    2023  Volume 14, Page(s) 1231749

    Abstract: We describe a novel, severe autoinflammatory syndrome characterized by neuroinflammation, systemic autoinflammation, splenomegaly, and anemia (NASA) caused by bi-allelic mutations ... ...

    Abstract We describe a novel, severe autoinflammatory syndrome characterized by neuroinflammation, systemic autoinflammation, splenomegaly, and anemia (NASA) caused by bi-allelic mutations in
    MeSH term(s) Humans ; Leukocytes, Mononuclear ; Interleukin-1 Receptor-Associated Kinases/genetics ; Splenomegaly/genetics ; Interleukin-6 ; Neuroinflammatory Diseases ; Anemia/genetics ; Mutation
    Chemical Substances Interleukin-1 Receptor-Associated Kinases (EC 2.7.11.1) ; Interleukin-6 ; IRAK4 protein, human (EC 2.7.11.1)
    Language English
    Publishing date 2023-09-06
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2606827-8
    ISSN 1664-3224 ; 1664-3224
    ISSN (online) 1664-3224
    ISSN 1664-3224
    DOI 10.3389/fimmu.2023.1231749
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition.

    Burleigh, Alice / Moraitis, Elena / Al Masroori, Eman / Al-Abadi, Eslam / Hong, Ying / Omoyinmi, Ebun / Titheradge, Hannah / Stals, Karen / Jones, Wendy D / Gait, Anthony / Jayarajan, Vignesh / Di, Wei-Li / Sebire, Neil / Solman, Lea / Ogboli, Malobi / Welch, Steven B / Sudarsanam, Annapurna / Wacogne, Ian / Price-Kuehne, Fiona /
    Jensen, Barbara / Brogan, Paul A / Eleftheriou, Despina

    Frontiers in immunology

    2023  Volume 14, Page(s) 1287258

    Abstract: ISG15 deficiency is a rare disease caused by autosomal recessive variants in ... ...

    Abstract ISG15 deficiency is a rare disease caused by autosomal recessive variants in the
    MeSH term(s) Humans ; Ubiquitins/metabolism ; Cytokines/metabolism ; Interferons ; Ubiquitin Thiolesterase/genetics ; Ubiquitin Thiolesterase/metabolism
    Chemical Substances Ubiquitins ; Cytokines ; Interferons (9008-11-1) ; ISG15 protein, human (60267-61-0) ; USP18 protein, human (EC 3.4.19.12) ; Ubiquitin Thiolesterase (EC 3.4.19.12)
    Language English
    Publishing date 2023-12-05
    Publishing country Switzerland
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2606827-8
    ISSN 1664-3224 ; 1664-3224
    ISSN (online) 1664-3224
    ISSN 1664-3224
    DOI 10.3389/fimmu.2023.1287258
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Salivary IgA and vimentin differentiate in vitro SARS-CoV-2 infection: A study of 290 convalescent COVID-19 patients.

    Ellis, Samuel / Way, Rosie / Nel, Miranda / Burleigh, Alice / Doykov, Ivan / Kembou-Ringert, Japhette / Woodall, Maximillian / Masonou, Tereza / Case, Katie-Marie / Ortez, Arturo Torres / McHugh, Timothy D / Casal, Antonio / McCoy, Laura E / Murdan, Sudaxshina / Hynds, Robert E / Gilmour, Kimberly C / Grandjean, Louis / Cortina-Borja, Mario / Heywood, Wendy E /
    Mills, Kevin / Smith, Claire M

    Mucosal immunology

    2023  Volume 17, Issue 1, Page(s) 124–136

    Abstract: SARS-CoV-2 initially infects cells in the nasopharynx and oral cavity. The immune system at these mucosal sites plays a crucial role in minimizing viral transmission and infection. To develop new strategies for preventing SARS-CoV-2 infection, this study ...

    Abstract SARS-CoV-2 initially infects cells in the nasopharynx and oral cavity. The immune system at these mucosal sites plays a crucial role in minimizing viral transmission and infection. To develop new strategies for preventing SARS-CoV-2 infection, this study aimed to identify proteins that protect against viral infection in saliva. We collected 551 saliva samples from 290 healthcare workers who had tested positive for COVID-19, before vaccination, between June and December 2020. The samples were categorized based on their ability to block or enhance infection using in vitro assays. Mass spectrometry and enzyme-linked immunosorbent assay experiments were used to identify and measure the abundance of proteins that specifically bind to SARS-CoV-2 antigens. Immunoglobulin (Ig)A specific to SARS-CoV-2 antigens was detectable in over 83% of the convalescent saliva samples. We found that concentrations of anti-receptor-binding domain IgA >500 pg/µg total protein in saliva correlate with reduced viral infectivity in vitro. However, there is a dissociation between the salivary IgA response to SARS-CoV-2, and systemic IgG titers in convalescent COVID-19 patients. Then, using an innovative technique known as spike-baited mass spectrometry, we identified novel spike-binding proteins in saliva, most notably vimentin, which correlated with increased viral infectivity in vitro and could serve as a therapeutic target against COVID-19.
    MeSH term(s) Humans ; Antibodies, Viral ; Antigens, Viral ; COVID-19 ; Immunoglobulin A ; SARS-CoV-2 ; Vimentin
    Chemical Substances Antibodies, Viral ; Antigens, Viral ; Immunoglobulin A ; Vimentin ; VIM protein, human
    Language English
    Publishing date 2023-11-24
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2411370-0
    ISSN 1935-3456 ; 1933-0219
    ISSN (online) 1935-3456
    ISSN 1933-0219
    DOI 10.1016/j.mucimm.2023.11.007
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 6796: Show issues Location:
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  7. Article ; Online: The collagen receptor glycoprotein VI promotes platelet-mediated aggregation of β-amyloid.

    Donner, Lili / Toska, Laura Mara / Krüger, Irena / Gröniger, Sandra / Barroso, Ruben / Burleigh, Alice / Mezzano, Diego / Pfeiler, Susanne / Kelm, Malte / Gerdes, Norbert / Watson, Steve P / Sun, Yi / Elvers, Margitta

    Science signaling

    2020  Volume 13, Issue 643

    Abstract: Cerebral amyloid angiopathy (CAA) and β-amyloid (Aβ) deposition in the brain parenchyma are hallmarks of Alzheimer's disease (AD). We previously reported that platelets contribute to Aβ aggregation in cerebral vessels by secreting the factor clusterin ... ...

    Abstract Cerebral amyloid angiopathy (CAA) and β-amyloid (Aβ) deposition in the brain parenchyma are hallmarks of Alzheimer's disease (AD). We previously reported that platelets contribute to Aβ aggregation in cerebral vessels by secreting the factor clusterin upon binding of Aβ40 to the fibrinogen receptor integrin α
    MeSH term(s) Adult ; Alzheimer Disease/metabolism ; Amyloid beta-Peptides/metabolism ; Animals ; Blood Platelets/cytology ; Blood Platelets/metabolism ; Cells, Cultured ; Fibrinogen/metabolism ; Humans ; Mice, Inbred C57BL ; Mice, Knockout ; Middle Aged ; Peptide Fragments/metabolism ; Platelet Aggregation ; Platelet Glycoprotein GPIIb-IIIa Complex/metabolism ; Platelet Membrane Glycoproteins/genetics ; Platelet Membrane Glycoproteins/metabolism ; Protein Aggregation, Pathological/metabolism ; Protein Binding ; Receptors, Collagen/genetics ; Receptors, Collagen/metabolism ; Signal Transduction
    Chemical Substances Amyloid beta-Peptides ; Peptide Fragments ; Platelet Glycoprotein GPIIb-IIIa Complex ; Platelet Membrane Glycoproteins ; Receptors, Collagen ; amyloid beta-protein (1-40) ; platelet membrane glycoprotein VI ; Fibrinogen (9001-32-5)
    Language English
    Publishing date 2020-08-04
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2417226-1
    ISSN 1937-9145 ; 1945-0877
    ISSN (online) 1937-9145
    ISSN 1945-0877
    DOI 10.1126/scisignal.aba9872
    Database MEDical Literature Analysis and Retrieval System OnLINE

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