Kooperativer Bibliotheksverbund

Berlin Brandenburg

and
and

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
Filter
Language
Year
  • 1
    In: Rheumatology, 2016, Vol. 55(9), pp.1534-1535
    Description: The objectives of this study were to describe patients starting first-line biologics for JIA, to describe characteristics over time among patients starting etanercept, and to describe patterns of second biologic prescribing.
    Keywords: Medicine;
    ISSN: 1462-0324
    E-ISSN: 1462-0332
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 2
    Language: English
    In: Pediatrics, April 2013, Vol.131(4), pp.e1308-13
    Description: Germline mutations in the SLC29A3 gene result in a range of recessive, clinically related syndromes: H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome, Faisalabad histiocytosis, and sinus histiocytosis with massive lymphadenopathy. The main symptoms of these diseases are hyperpigmentation with hypertrichosis, sensorineural deafness, diabetes, short stature, uveitis, and Rosai-Dorfman like histiocytosis. Here, we report the case of an 11-month-old boy with early-onset, recurrent episodes of unprovoked fever lasting 7 to 10 days and associated with pericardial effusion, abdominal pain, diarrhea, and inflammation. Physical examination revealed hyperpigmentation with hypertrichosis, dysmorphic features, and spleen and liver enlargement. Failure to thrive, sensorineural deafness, retarded psychomotor development, and a Rosai-Dorfman like cheek lesion developed subsequently. The febrile episodes did not respond to tumor necrosis factor α antagonists and interleukin-1. Sequencing of the SLC29A3 gene revealed a homozygous missense mutation c.1088G〉A (p.Arg363Gln). These observations suggest that a newly identified mutation in the SLC29A3 gene may be associated with an autoinflammatory disorder. Genetic defects in SLC29A3 should be considered in patients with autoinflammatory manifestations, recurrent febrile attacks, and 1 or more of the symptoms found in the broad spectrum of SLC29A3-related disorders (especially hyperpigmentation with hypertrichosis).
    Keywords: Homozygote ; Mutation, Missense ; Hereditary Autoinflammatory Diseases -- Genetics ; Nucleoside Transport Proteins -- Genetics
    ISSN: 00314005
    E-ISSN: 1098-4275
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 3
    Language: English
    In: Joint Bone Spine, December 2010, Vol.77(6), pp.511-516
    Description: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases, most of which differ from the main adult-onset inflammatory joint diseases. Nonsystemic forms of JIA (oligoarthritis, polyarthritis with or without rheumatoid factors, and spondyloarthropathies) are managed similarly to adult-onset rheumatoid arthritis or spondylarthritis, with a few differences. More specifically, JIA-associated chronic uveitis may require the use of biotherapies that remain experimental in JIA, such as monoclonal antibodies to TNFα or abatacept. International networks have enabled therapeutic trials of medications targeting TNFα alpha, interleukin (IL)-1, IL-6, or T-cell co-stimulation (abatacept). Systemic-onset JIA (also called childhood-onset Still's disease) raises specific treatment challenges and may require treatment with IL-1 antagonists, tocilizumab, or even thalidomide; as a very last resort, intensive immunosuppressant therapy with autologous hematopoietic stem-cell transplantation may be considered. Close monitoring of growth velocity and bone mass accrual is in order, and some patients require additional medications such as growth hormone. Patients with JIA should be managed in specialized centers that have coordinated chains of care for the entire pediatric period and into adulthood. In addition, the use in pediatric patients of recently introduced treatments requires close monitoring for long-term side effects.
    Keywords: Juvenile Arthritis ; Pediatrics ; Adolescents ; Biotherapies ; Interleukins ; Medicine
    ISSN: 1297-319X
    E-ISSN: 1778-7254
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 4
    Language: English
    In: Arthritis and rheumatism, February 2011, Vol.63(2), pp.314-24
    Keywords: Autoimmune Diseases -- Immunology ; Autoimmunity -- Immunology ; Immunity, Innate -- Immunology ; Interleukin-1beta -- Immunology
    E-ISSN: 1529-0131
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 5
    Language: English
    In: Open Access Rheumatology: Research and Reviews, 01/2011, p.9
    Description: Cryopyrin-associated periodic syndrome (CAPS) include a group of rare autoinflammatory disorders, the spectrum of which ranges from the mildest form, ie, familial cold autoinflammatory syndrome to more severe phenotypes, ie, Muckle-Wells syndrome, and chronic infantile neurological cutaneous and articular syndrome, also known as neonatal-onset multisystem inflammatory disease. Three interleukin (IL)-1 antagonists have been tested in adults and children with CAPS, ie, anakinra, a recombinant homolog of the human IL-1 receptor antagonist; rilonacept, a fusion protein comprising the extracellular domains of IL-1 receptor I and the IL-1 adaptor protein, IL-1RAcP, attached to a human immunoglobulin G molecule; and canakinumab, the anti-IL-1β monoclonal antibody. Following rapid clinical development, rilonacept and canakinumab were approved by both the US Food and Drug Administration and the European Medicines Agency for use in adults and children. This review describes how the study of CAPS has helped us to understand better the way the innate immune system works, the pathogenesis of autoinflammatory syndromes, and the key role of IL-1. It also reviews the effects of IL-1 blockade in CAPS and other disorders, in particular systemic juvenile idiopathic arthritis, adult-onset Still's disease, and gout. Finally, this review covers some issues addressed by very recent and ongoing work regarding treatment indications, from orphan diseases to common disorders, continuous versus intermittent treatment, the pharmacokinetics, pharmacodynamics, and optimal dosages of the different drugs, as well as the need for Phase IV trials, exhaustive registries, and long-term follow-up of several patient cohorts.
    Keywords: Cytokines ; Inflammation ; Interleukin-1 ; Cytokines ; Treatment;
    ISSN: Open Access Rheumatology: Research and Reviews
    E-ISSN: 1179-156X
    Source: CrossRef
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 6
    Language: English
    In: Open Access Rheumatology : Research and Reviews, 01 January 2011, Vol.2011(default), pp.9-18
    Description: Pierre QuartierUnité d'Immunologie-Hématologie et Rhumatologie pédiatriques, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, FranceAbstract: Cryopyrin-associated periodic syndrome (CAPS) include a group...
    Keywords: Medicine
    ISSN: 1179-156X
    E-ISSN: 1179-156X
    Source: Directory of Open Access Journals (DOAJ)
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 7
    Language: English
    In: Open access rheumatology : research and reviews, 2011, Vol.3, pp.9-18
    Description: Cryopyrin-associated periodic syndrome (CAPS) include a group of rare autoinflammatory disorders, the spectrum of which ranges from the mildest form, ie, familial cold autoinflammatory syndrome to more severe phenotypes, ie, Muckle-Wells syndrome, and chronic infantile neurological cutaneous and articular syndrome, also known as neonatal-onset multisystem inflammatory disease. Three interleukin (IL)-1 antagonists have been tested in adults and children with CAPS, ie, anakinra, a recombinant homolog of the human IL-1 receptor antagonist; rilonacept, a fusion protein comprising the extracellular domains of IL-1 receptor I and the IL-1 adaptor protein, IL-1RAcP, attached to a human immunoglobulin G molecule; and canakinumab, the anti-IL-1β monoclonal antibody. Following rapid clinical development, rilonacept and canakinumab were approved by both the US Food and Drug Administration and the European Medicines Agency for use in adults and children. This review describes how the study of CAPS has helped us to understand better the way the innate immune system works, the pathogenesis of autoinflammatory syndromes, and the key role of IL-1. It also reviews the effects of IL-1 blockade in CAPS and other disorders, in particular systemic juvenile idiopathic arthritis, adult-onset Still's disease, and gout. Finally, this review covers some issues addressed by very recent and ongoing work regarding treatment indications, from orphan diseases to common disorders, continuous versus intermittent treatment, the pharmacokinetics, pharmacodynamics, and optimal dosages of the different drugs, as well as the need for Phase IV trials, exhaustive registries, and long-term follow-up of several patient cohorts.
    Keywords: Cytokines ; Inflammation ; Interleukin-1 ; Treatment
    ISSN: 1179-156X
    Source: MEDLINE/PubMed (U.S. National Library of Medicine)
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 8
    Language: English
    In: Pediatrics, July 2011, Vol.128(1), pp.e152-9
    Description: The goal of this study was to describe the spectrum of clinical signs of mevalonate kinase deficiency (MKD). This was a retrospective French and Belgian study of patients identified on the basis of MKD gene mutations. Fifty patients from 38 different families were identified, including 1 asymptomatic patient. Symptoms began during the first 6 months of life in 30 patients (60%) and before the age of 5 years in 46 patients (92%). Symptoms consisted of febrile diarrhea and/or rash in 23 of 35 patients (66%). Febrile attacks were mostly associated with lymphadenopathy (71%), diarrhea (69%), joint pain (67%), skin lesions (67%), abdominal pain (63%), and splenomegaly (63%). In addition to febrile attacks, 27 patients presented with inflammatory bowel disease, erosive polyarthritis, Sjögren syndrome, and other chronic neurologic, renal, pulmonary, endocrine, cutaneous, hematologic, or ocular symptoms. Recurrent and/or severe infections were observed in 13 patients, hypogammaglobulinemia in 3 patients, and renal angiomyolipoma in 3 patients. Twenty-nine genomic mutations were identified; the p.Val377Ile mutation was the most frequently found (29 of 38 families). Three patients died of causes related to MKD. The disease remained highly active in 17 of the 31 surviving symptomatic patients followed up for 〉5 years, whereas disease activity decreased over time in the other 14 patients. Interleukin 1 antagonists were the most effective biological agents tested, leading to complete or partial remission in 9 of 11 patients. MKD is not only an autoinflammatory syndrome but also a multisystemic inflammatory disorder, a possible immunodeficiency disorder, and a condition that predisposes patients to the development of renal angiomyolipoma.
    Keywords: Metabolism, Inborn Errors -- Diagnosis ; Phosphotransferases (Alcohol Group Acceptor) -- Deficiency
    ISSN: 00314005
    E-ISSN: 1098-4275
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 9
    Language: French
    In: La Revue du praticien, October 2017, Vol.67(8), pp.825-830
    Keywords: Rheumatologic Disorders ; Child
    E-ISSN: 2101-017X
    Source: MEDLINE/PubMed (U.S. National Library of Medicine)
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 10
    Language: French
    In: Revue du rhumatisme, 2010, Vol.77, pp.A12-A17
    Description: Les arthrites juvéniles idiopathiques (AJI) représentent un ensemble hétérogène de maladies, pour la plupart différentes des rhumatismes inflammatoires les plus communs débutant à l’âge adulte. La prise en charge thérapeutique des formes non systémiques d’AJI (oligoarthrites, polyarthrites avec ou sans facteur rhumatoïde, spondylarthropathies) est similaire à la prise en charge de la polyarthrite rhumatoïde ou des spondylarthrites de l’adulte, avec cependant quelques différences. En particulier, la présence d’une uvéite chronique associée à l’AJI peut imposer le recours à des biothérapies encore expérimentales dans cette indication, comme les anticorps monoclonaux anti-TNF alpha ou l’abatacept. Des essais thérapeutiques avec différentes biothérapies ciblant le TNF alpha, l’Interleukine-1 ou 6 et l’abatacept ont été menés ou sont en cours grâce à des structures collaboratives internationales. La forme systémique d’AJI (ou maladie de Still à début pédiatrique) pose des problèmes thérapeutiques particuliers et peut nécessiter le recours à des anti-interleukine-1, au tocilizumab voire à la thalidomide ou exceptionnellement à des traitements intensifs avec autogreffe de cellules souches hématopoïétiques. Le suivi de la vitesse de croissance et de la masse osseuse est particulièrement important chez ces patients dont certaints nécessitent des traitements associés dont l’hormone de croissance. La prise en charge de ces patients doit impliquer les centres de compétence et de référence pédiatriques puis leurs correspondants d’adultes. L’utilisation de traitements d’introduction récente en pédiatrie justifie d’un effort de pharmacovigilance sur le long terme.
    Keywords: Arthrites Juvéniles ; Enfants ; Adolescents ; Biothérapies ; Interleukines ; Medicine
    ISSN: 1169-8330
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. Further information can be found on the KOBV privacy pages