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  1. Book: Behcet's disease

    Sibley, Cailin Henderson

    an enigma revisited

    (CC grand rounds)

    2012  

    Institution National Institutes of Health (U.S.)
    Author's details Cailin Henderson Sibley, Elaine F. Remmers
    Series title CC grand rounds
    MeSH term(s) Behcet Syndrome
    Language English
    Size 1 online resource (1 streaming video file (54 min.) :, sd., col.)
    Publisher National Institutes of Health
    Publishing place Bethesda, Md
    Document type Book
    Note Closed-captioned.
    Database Catalogue of the US National Library of Medicine (NLM)

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  2. Article ; Online: Monogenic IL-1 mediated autoinflammatory and immunodeficiency syndromes: finding the right balance in response to danger signals.

    Henderson, Cailin / Goldbach-Mansky, Raphaela

    Clinical immunology (Orlando, Fla.)

    2010  Volume 135, Issue 2, Page(s) 210–222

    Abstract: Introduction: Interleukin-1 was the first cytokine identified and is a powerful inducer of fever and inflammation. The biologically active receptor for IL-1, shares signaling pathways with some pathogen recognition receptors, the Toll-like receptors ( ... ...

    Abstract Introduction: Interleukin-1 was the first cytokine identified and is a powerful inducer of fever and inflammation. The biologically active receptor for IL-1, shares signaling pathways with some pathogen recognition receptors, the Toll-like receptors (TLRs) which early on suggested an important role in innate immune function.
    Discussion: The discovery that some intracellular "danger receptors", the NOD like receptors (NLRs) can assemble to form multimolecular platforms, the inflammasomes, that not only sense intracellular danger but also activate IL-1beta, has provided the molecular basis for the integration of IL-1 as an early response mediator in danger recognition. The critical role of balancing IL-1 production and signaling in human disease has recently been demonstrated in rare human monogenic diseases with mutations that affect the meticulous control of IL-1 production, release and signaling by leading to decreased or increased TLR/IL-1 signaling. In diseases of decreased TLR/IL-1 signaling (IRAK-4 and MyD88 deficiencies) patients are at risk for infections with gram positive organisms; and in diseases of increased signaling, patients develop systemic autoinflammatory diseases (cryopyrin-associated periodic syndromes (CAPS), and deficiency of the IL-1 receptor antagonist (DIRA)).
    Conclusion: Monogenic defects in a number of rare diseases that affect the balance of TLR/IL-1 signaling have provided us with opportunities to study the systemic effects of IL-1 in human diseases. The molecular defects in CAPS and DIRA provided a therapeutic rationale for targeting IL-1 and the impressive clinical results from IL-1 blocking therapies have undoubtedly confirmed the pivotal role of IL-1 in human disease and spurred the exploration of modifying IL-1 signaling in a number of genetically complex common human diseases.
    MeSH term(s) Autoimmune Diseases/genetics ; Autoimmune Diseases/immunology ; Cryopyrin-Associated Periodic Syndromes/genetics ; Cryopyrin-Associated Periodic Syndromes/immunology ; Humans ; Immunologic Deficiency Syndromes/genetics ; Immunologic Deficiency Syndromes/immunology ; Inflammation/genetics ; Inflammation/immunology ; Interleukin-1/genetics ; Interleukin-1/immunology ; Signal Transduction/immunology ; Toll-Like Receptors/immunology
    Chemical Substances Interleukin-1 ; Toll-Like Receptors
    Language English
    Publishing date 2010-03-30
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1459903-x
    ISSN 1521-7035 ; 1521-6616
    ISSN (online) 1521-7035
    ISSN 1521-6616
    DOI 10.1016/j.clim.2010.02.013
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  3. Article: Drug insight: anti-tumor-necrosis-factor therapy for ankylosing spondylitis.

    Henderson, Cailin / Davis, John C

    Nature clinical practice. Rheumatology

    2006  Volume 2, Issue 4, Page(s) 211–218

    Abstract: Ankylosing spondylitis (AS) is a chronic inflammatory disorder of the spine and peripheral joints that can lead to significant disability if left untreated. Conventional treatments can be successful in alleviating symptoms; however, this approach has not ...

    Abstract Ankylosing spondylitis (AS) is a chronic inflammatory disorder of the spine and peripheral joints that can lead to significant disability if left untreated. Conventional treatments can be successful in alleviating symptoms; however, this approach has not been shown to halt the progression of disease. The proinflammatory cytokine tumor necrosis factor (TNF) is central to the pathogenesis of AS. Several anti-TNF drugs have been developed and have been shown to control symptoms effectively, and possibly to prevent both clinical and radiographic progression of disease, in patients with AS. This review discusses the data from clinical trials that have assessed the use of TNF inhibitors in patients with AS, and briefly outlines other biologic therapies that have been studied.
    MeSH term(s) Adalimumab ; Antibodies, Monoclonal/therapeutic use ; Antibodies, Monoclonal, Humanized ; Antirheumatic Agents/therapeutic use ; Bone Density/drug effects ; Disease Progression ; Etanercept ; Humans ; Immunoglobulin G/therapeutic use ; Infliximab ; Receptors, Tumor Necrosis Factor/therapeutic use ; Spondylitis, Ankylosing/drug therapy ; Spondylitis, Ankylosing/metabolism ; Treatment Outcome ; Tumor Necrosis Factor-alpha/antagonists & inhibitors ; Tumor Necrosis Factor-alpha/metabolism
    Chemical Substances Antibodies, Monoclonal ; Antibodies, Monoclonal, Humanized ; Antirheumatic Agents ; Immunoglobulin G ; Receptors, Tumor Necrosis Factor ; Tumor Necrosis Factor-alpha ; Infliximab (B72HH48FLU) ; Adalimumab (FYS6T7F842) ; Etanercept (OP401G7OJC)
    Language English
    Publishing date 2006-04
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2228569-6
    ISSN 1745-8390 ; 1745-8382
    ISSN (online) 1745-8390
    ISSN 1745-8382
    DOI 10.1038/ncprheum0157
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis.

    Henderson, Cailin / Goldbach-Mansky, Raphaela

    Current opinion in rheumatology

    2001  Volume 22, Issue 5, Page(s) 567–578

    Abstract: Purpose of review: The genetic and clinical characterizations of monogenic autoinflammatory syndromes have led to ground breaking insights into the regulation of inflammatory responses to endogenous and exogenous inducers or triggers of inflammation and ...

    Abstract Purpose of review: The genetic and clinical characterizations of monogenic autoinflammatory syndromes have led to ground breaking insights into the regulation of inflammatory responses to endogenous and exogenous inducers or triggers of inflammation and continue to uncover key inflammatory pathways of the innate immune system. This article summarizes recent progress in the clinical aspects and understanding of the pathogenesis of this growing spectrum of diseases.
    Recent findings: The understanding of the spectrum of organ manifestations in autoinflammation was expanded by the discovery of two novel monogenic diseases both caused by the absence of an anti-inflammatory signal and added evidence that increased IL-1 signaling can cause aseptic osteolytic bone lesions and that the absence of IL-10 signaling causes inflammatory enterocolitis in neonates. New knock in animal models for TNF-receptor-associated periodic syndrome, and familial Mediterranean fever and cryopyrin-associated periodic syndromes allow insights into the complexity of the dysregulated immune pathways. Exploring 'triggers' of the NLRP3 inflammasome spurred studies of tissue inflammation in diseases including gout and those that previously have not been considered inflammatory in nature such as diabetes, fibrosing lung disease and possibly coronary artery disease.
    Summary: The genetic characterization of a growing number of monogenic autoinflammatory diseases has provided important insights into the phenotypic expression of single gene disorders and the complexity of the dysregulated inflammatory pathways leading to clinical disease. Knowledge obtained from these disorders is pertinent to a number of common disorders and provides new targets for drug development.
    MeSH term(s) Cytokines/genetics ; Cytokines/immunology ; Hereditary Autoinflammatory Diseases/genetics ; Hereditary Autoinflammatory Diseases/immunology ; Humans
    Chemical Substances Cytokines
    Language English
    Publishing date 2001-07-15
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Review
    ZDB-ID 1045317-9
    ISSN 1531-6963 ; 1040-8711
    ISSN (online) 1531-6963
    ISSN 1040-8711
    DOI 10.1097/BOR.0b013e32833ceff4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3028: Show issues Location:
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  5. Article ; Online: Cryopyrin-associated periodic syndromes: otolaryngologic and audiologic manifestations.

    Ahmadi, Neda / Brewer, Carmen C / Zalewski, Christopher / King, Kelly A / Butman, John A / Plass, Nicole / Henderson, Cailin / Goldbach-Mansky, Raphaela / Kim, H Jeffrey

    Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery

    2011  Volume 145, Issue 2, Page(s) 295–302

    Abstract: Objective: Cryopyrin-associated periodic syndromes (CAPS) represent a spectrum of CIAS1 gene-mediated autoinflammatory diseases characterized by recurrent systemic inflammation. The clinical spectrum of CAPS varies from mild to severe and includes the ... ...

    Abstract Objective: Cryopyrin-associated periodic syndromes (CAPS) represent a spectrum of CIAS1 gene-mediated autoinflammatory diseases characterized by recurrent systemic inflammation. The clinical spectrum of CAPS varies from mild to severe and includes the syndromes historically described as familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). This article presents the largest cohort of patients with CAPS. The objective is to describe the pathogenesis, otolaryngologic, and audiologic manifestations of CAPS.
    Study design: Prospective (2003-2009).
    Setting: National Institutes of Health.
    Subjects and methods: Fifty-seven patients with a diagnosis of CAPS were identified (31 NOMID, 11 NOMID/MWS, 9 MWS, and 6 FCAS). Comprehensive data regarding clinical manifestations, audiologic phenotype, and fluid attenuation inversion recovery MRI (FLAIR-MRI) of the brain and inner ear were obtained.
    Results: Complete audiologic data obtained on 70% of ears revealed conductive hearing loss in 4 (11%) NOMID ears and mixed hearing loss in 5 (13%) NOMID and 2 (14%) NOMID/MWS ears. Sensorineural hearing loss (SNHL), worse in higher frequencies, was the most common type of hearing loss and was present in 23 (61%) NOMID, 10 (71%) NOMID/MWS, and 4 (33%) MWS ears. All of the patients with FCAS had normal hearing except 2, who had SNHL from 4 to 8 kHz. On FLAIR-MRI sequence, cochlear enhancement was noted in 26 of 29 (90%) NOMID, 6 of 11 (55%) NOMID/MWS, 3 of 9 (33%) MWS, and 1 of 6 (17%) FCAS patients and was significantly associated with the presence of hearing loss. Maxillary sinus hypoplasia and mucosal thickening were found in 39% and 86% of the cohort, respectively.
    Conclusion: CIAS1 pathway–mediated CAPS is associated with unregulated autoinflammation mediated by interleukin-1 in the cochlea and hearing loss. Timely diagnosis is crucial to initiate early treatment with interleukin-1 receptor antagonists.
    MeSH term(s) Adolescent ; Adult ; Aged ; Audiometry, Pure-Tone ; Bone Conduction ; Child ; Child, Preschool ; Cochlea/metabolism ; Cryopyrin-Associated Periodic Syndromes/complications ; Cryopyrin-Associated Periodic Syndromes/diagnosis ; Cryopyrin-Associated Periodic Syndromes/physiopathology ; Female ; Follow-Up Studies ; Hearing/physiology ; Hearing Loss, Mixed Conductive-Sensorineural/diagnosis ; Hearing Loss, Mixed Conductive-Sensorineural/etiology ; Hearing Loss, Mixed Conductive-Sensorineural/physiopathology ; Hearing Loss, Sensorineural/diagnosis ; Hearing Loss, Sensorineural/etiology ; Hearing Loss, Sensorineural/physiopathology ; Humans ; Hyperplasia ; Infant ; Interleukin-1/biosynthesis ; Magnetic Resonance Imaging ; Male ; Maxillary Sinus/pathology ; Middle Aged ; Paranasal Sinus Diseases/etiology ; Paranasal Sinus Diseases/pathology ; Prognosis ; Prospective Studies ; Respiratory Mucosa/pathology ; Young Adult
    Chemical Substances Interleukin-1
    Language English
    Publishing date 2011-02-10
    Publishing country England
    Document type Comparative Study ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural
    ZDB-ID 392085-9
    ISSN 1097-6817 ; 0161-6439 ; 0194-5998
    ISSN (online) 1097-6817
    ISSN 0161-6439 ; 0194-5998
    DOI 10.1177/0194599811402296
    Database MEDical Literature Analysis and Retrieval System OnLINE

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