当前位置： SCI文献检索 > Pediatric Rheumatology期刊下所有文献 > Is fibrodysplasia ossificans progressiva an interleukin-1 driven auto-inflammatory syndrome?

Is fibrodysplasia ossificans progressiva an interleukin-1 driven auto-inflammatory syndrome?

Abstract：

BACKGROUND:Fibrodysplasia ossificans progressiva (FOP) is the most catastrophic form of heterotopic ossification, due to ongoing intracellular signaling through the bone morphogenic protein pathway. The paroxysmal appearance of inflammatory lumps and elevated inflammatory markers during flares, suggest that FOP is an auto-inflammatory disease. Based on evidence, demonstrating a role for interleukin-1β (IL-1β) in other forms of heterotopic ossification, we hypothesized that treating FOP patients with anti-IL-1 agents could help lower the rate of FOP paroxysms and/or limit the symptoms and residual lesions. CASE PRESENTATION:A 13.5-year-old Arab boy was diagnosed with FOP. Treatment with anti-inflammatory drugs did not change the disease course. New lumps appeared in a rate of approximately one every 8 days. Treatment with the anti-IL-1 agents anakinra and canakinumab resulted in significantly lower rate of paroxysms (every 22-25 days, of which almost all involved only 2 existing lumps), as well as shorter duration. High levels of IL-1β were found in the patient's plasma samples, collected during a paroxysm that appeared 8 weeks after the last canakinumab dose. In contrast, IL-1β plasma levels were undetectable in the previous three plasma samples, obtained while he was treated with anti-IL-1 agents. CONCLUSIONS:Our data demonstrate the efficacy of anti-IL-1 agents in the treatment of a patient with FOP. Results showing the marked increase in IL-1β plasma levels during a paroxysm support a role for IL-1β in the pathogenesis of FOP and further provide the rationale for the use of anti-IL-1 agents in FOP treatment.

journal_name

Pediatr Rheumatol Online J

journal_title

Pediatric rheumatology online journal

authors

Haviv R,Moshe V,De Benedetti F,Prencipe G,Rabinowicz N,Uziel Y

doi

10.1186/s12969-019-0386-6

subject

Has Abstract

pub_date

2019-12-21 00:00:00

pages

84

issue

1

issn

1546-0096

pii

10.1186/s12969-019-0386-6

journal_volume

17

pub_type

杂志文章

相关文献

Pediatric Rheumatology文献大全
  • Development and pilot testing of the treatment and education approach for childhood-onset lupus (TEACH): a cognitive behavioral treatment.

    abstract：BACKGROUND:To develop and test the feasibility and initial effectiveness of the Treatment and Education Approach for Childhood-onset Lupus (TEACH) protocol, a 6-session cognitive behavioral therapy (CBT) intervention for adolescents and young adults (AYA) with childhood-onset systemic lupus erythematosus (cSLE). METHO...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/s12969-019-0307-8

    authors： Cunningham NR,Fussner LM,Moorman E,Avar Aydin PO,Brunner HI,Kashikar-Zuck S

    更新日期：2019-02-18 00:00:00

  • Autoimmune thyroiditis in antinuclear antibody positive children without rheumatologic disease.

    abstract：BACKGROUND:Children are commonly referred to a pediatric rheumatology center for the laboratory finding of an Anti-nuclear antibody (ANA) of undetermined significance. Previous studies regarding adult rheumatology patients have supported an association between ANA and anti-thyroid antibodies, with the prevalence of thy...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/1546-0096-8-15

    authors： Torok KS,Arkachaisri T

    更新日期：2010-05-05 00:00:00

  • TLR4 rs41426344 increases susceptibility of rheumatoid arthritis (RA) and juvenile idiopathic arthritis (JIA) in a central south Chinese Han population.

    abstract：BACKGROUND:The aim of the study was to determine whether polymorphisms in toll-like receptor 4 (TLR4) confer susceptibility to rheumatoid arthritis (RA) and juvenile idiopathic arthritis (JIA) in a central south Chinese Han population. METHODS:Genotyping for six well studied polymorphisms (rs4986790, rs4986791, rs1075...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/s12969-017-0137-5

    authors： Wang Y,Chen L,Li F,Bao M,Zeng J,Xiang J,Luo H,Li J,Tang L

    更新日期：2017-02-21 00:00:00

  • The temporomandibular joint in juvenile idiopathic arthritis: frequently used and frequently arthritic.

    abstract：: Recent recognition of the markedly high prevalence of temporomandibular joint (TMJ) arthritis in children with juvenile idiopathic arthritis (JIA) coupled with the significant morbidity associated with TMJ damage has prompted increased interest in both the clinical and pathological aspects of TMJ arthritis. This revi...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/1546-0096-7-11

    authors： Ringold S,Cron RQ

    更新日期：2009-05-29 00:00:00

  • Towards a new set of classification criteria for PFAPA syndrome.

    abstract：BACKGROUND:Diagnosis of Periodic Fever, Aphthous stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) syndrome is currently based on the modified Marshall's criteria, but no validated evidence based classification criteria for PFAPA has been established so far. METHODS:A multistep process, based on the Delphi and Nom...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/s12969-018-0277-2

    authors： Vanoni F,Caorsi R,Aeby S,Cochard M,Antón J,Berg S,Brik R,Dolezalova P,Koné-Paut I,Neven B,Ozen S,Pillet P,Stojanov S,Wouters C,Gattorno M,Hofer M

    更新日期：2018-09-21 00:00:00

  • Homocysteine and lipid profile in children with Juvenile Idiopathic Arthritis.

    abstract：BACKGROUND:An increased concentration of plasma homocysteine (Hcy) has toxic effects on vascular endothelium. This seems to be a risk factor of cardiovascular disease, premature stroke and venous thrombosis. The risk is higher in coincidence with other factors like chronic diseases and familiar hypercholesterolemia. Th...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/1546-0096-5-2

    authors： Gonçalves M,D'Almeida V,Guerra-Shinohara EM,Galdieri LC,Len CA,Hilário MO

    更新日期：2007-04-02 00:00:00

  • Prosthetic temporomandibular joint reconstruction in a cohort of adolescent females with juvenile idiopathic arthritis.

    abstract：BACKGROUND:Temporomandibular joint (TMJ) arthritis and involvement is commonly seen in Juvenile Idiopathic Arthritis (JIA). Therapy includes conservative measures, but also includes intraarticular corticosteroid injections (IASI) and systemic immunosuppressive therapy. Despite aggressive medical therapy, some patients ...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/s12969-020-00453-6

    authors： Lypka M,Shah K,Jones J

    更新日期：2020-09-04 00:00:00

  • Post-streptococcal reactive arthritis in children: a distinct entity from acute rheumatic fever.

    abstract：: There is a debate whether post-streptococcal reactive arthritis (PSRA) is a separate entity or a condition on the spectrum of acute rheumatic fever (ARF). We believe that PSRA is a distinct entity and in this paper we review the substantial differences between PSRA and ARF. We show how the demographic, clinical, gene...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/1546-0096-9-32

    authors： Uziel Y,Perl L,Barash J,Hashkes PJ

    更新日期：2011-10-20 00:00:00

  • Childhood Cogan syndrome with aortitis and anti-neutrophil cytoplasmic antibody-associated glomerulonephritis.

    abstract：:Cogan syndrome is a systemic disease manifesting interstitial keratitis, sensorineural hearing loss, tinnitus, and rotatory vertigo. Renal complications of this syndrome are very rare. We encountered an adolescent with Cogan syndrome complicated by aortitis and anti-neutrophil cytoplasmic antibody (ANCA)-associated gl...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/1546-0096-12-15

    authors： Sugimoto K,Miyazawa T,Nishi H,Izu A,Enya T,Okada M,Takemura T

    更新日期：2014-04-25 00:00:00

  • Fatal myocarditis in a child with systemic onset juvenile idiopathic arthritis during treatment with an interleukin 1 receptor antagonist.

    abstract：BACKGROUND:The pathologic diagnosis of isolated myocarditis without pericardial involvement is uncommonly encountered in systemic onset Juvenile Idiopathic Arthritis (soJIA). CASE:An eleven year-old boy with soJIA died suddenly while being treated with the interleukin 1 (IL-1) receptor inhibitor, anakinra. His autopsy...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/1546-0096-10-8

    authors： Zeft AS,Menon SC,Miller D

    更新日期：2012-04-10 00:00:00

  • Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome.

    abstract：BACKGROUND:CANDLE syndrome (an acronym for Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature) is a recently described rare autosomal recessive disorder charaterized by systemic autoinflammation. Clinical manifestations include presentation in the first year of life, episodes of fever ...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/s12969-019-0322-9

    authors： Boyadzhiev M,Marinov L,Boyadzhiev V,Iotova V,Aksentijevich I,Hambleton S

    更新日期：2019-05-02 00:00:00

  • Nonsteroidal Anti-Inflammatory Drugs: A survey of practices and concerns of pediatric medical and surgical specialists and a summary of available safety data.

    abstract：OBJECTIVES:To examine the prescribing habits of NSAIDs among pediatric medical and surgical practitioners, and to examine concerns and barriers to their use. METHODS:A sample of 1289 pediatricians, pediatric rheumatologists, sports medicine physicians, pediatric surgeons and pediatric orthopedic surgeons in the United...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/1546-0096-8-7

    authors： Levy DM,Imundo LF

    更新日期：2010-02-04 00:00:00

  • Tuberculin skin test and ELISPOT/T. SPOT.TB in children and adolescents with juvenile idiopathic arthritis.

    abstract：BACKGROUND:There are controversies regarding the accuracy of the tuberculin skin test (TST) and methods based on the production of interferon gamma by sensitized T cells for the diagnosis of latent tuberculosis infection (LTBI) in pediatrics and immunosuppressed patients. Our objectives are to study TST and ELISPOT/T. ...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/1546-0096-12-17

    authors： Sztajnbok F,Boechat NL,Ribeiro SB,Oliveira SK,Sztajnbok DC,Sant'Anna CC

    更新日期：2014-05-22 00:00:00

  • Idiopathic juvenile osteoporosis: a cross-sectional single-centre experience with bone histomorphometry and quantitative computed tomography.

    abstract：BACKGROUND:Idiopathic juvenile osteoporosis (IJO) is a rare condition of poorly understood etiology and pathophysiology that affects otherwise healthy children. This condition is characterized clinically by bone pain and vertebral fractures; spontaneous recovery is observed after puberty in the majority of cases. Altho...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/1546-0096-11-6

    authors： Bacchetta J,Wesseling-Perry K,Gilsanz V,Gales B,Pereira RC,Salusky IB

    更新日期：2013-02-19 00:00:00

  • Pharmacokinetic and safety profile of tofacitinib in children with polyarticular course juvenile idiopathic arthritis: results of a phase 1, open-label, multicenter study.

    abstract：BACKGROUND:Juvenile idiopathic arthritis (JIA) is the most common pediatric rheumatic disease and a leading cause of childhood disability. The objective of this study was to characterize the PK, safety, and taste acceptability of tofacitinib in patients with JIA. METHODS:This Phase 1, open-label, multiple-dose (twice ...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章,多中心研究

    doi：10.1186/s12969-017-0212-y

    authors： Ruperto N,Brunner HI,Zuber Z,Tzaribachev N,Kingsbury DJ,Foeldvari I,Horneff G,Smolewska E,Vehe RK,Hazra A,Wang R,Mebus CA,Alvey C,Lamba M,Krishnaswami S,Stock TC,Wang M,Suehiro R,Martini A,Lovell DJ,Pediatric Rheu

    更新日期：2017-12-28 00:00:00

  • Telemedicine and other care models in pediatric rheumatology: an exploratory study of parents' perceptions of barriers to care and care preferences.

    abstract：BACKGROUND:The United States pediatric rheumatology workforce is committed to a mission of providing children access to pediatric rheumatology care. With a limited number and distribution of pediatric rheumatologists, telemedicine has been proposed as one way to meet this mission, yet the adoption of this modality has ...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/s12969-017-0184-y

    authors： Bullock DR,Vehe RK,Zhang L,Correll CK

    更新日期：2017-07-11 00:00:00

  • Bacterial infections in a pediatric cohort of primary and acquired complement deficiencies.

    abstract：BACKGROUND:Acquired complement deficiency can occur in the setting of autoimmune syndromes, such as systemic lupus erythematosus (SLE), with very low or, occasionally, undetectable C3 levels. Based on inherited complement defects, patients with transiently low complement may be at similar risk for serious bacterial inf...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/s12969-020-00467-0

    authors： Al-Shaikhly T,Hayward K,Basiaga ML,Allenspach EJ

    更新日期：2020-09-24 00:00:00

  • Development of practice and consensus-based strategies including a treat-to-target approach for the management of moderate and severe juvenile dermatomyositis in Germany and Austria.

    abstract：BACKGROUND:Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy in childhood and a major cause of morbidity among children with pediatric rheumatic diseases. The management of JDM is very heterogeneous. The JDM working group of the Society for Pediatric Rheumatology (GKJR) aims to define consensus- a...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/s12969-018-0257-6

    authors： Hinze CH,Oommen PT,Dressler F,Urban A,Weller-Heinemann F,Speth F,Lainka E,Brunner J,Fesq H,Foell D,Müller-Felber W,Neudorf U,Rietschel C,Schwarz T,Schara U,Haas JP

    更新日期：2018-06-25 00:00:00

  • Musculoskeletal ultrasound in pediatric rheumatology.

    abstract：: Although musculoskeletal ultrasound (MSUS) has emerged as an indispensible tool among physicians involved in musculoskeletal medicine in the last two decades, only recently has it become more attractive to pediatric rheumatologists. Thereafter, the use of MSUS in pediatric rheumatology has started to increase. Yet, a...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/1546-0096-9-25

    authors： Tok F,Demirkaya E,Ozçakar L

    更新日期：2011-09-12 00:00:00

  • Treating juvenile idiopathic arthritis to target: what is the optimal target definition to reach all goals?

    abstract：:In 2018, an international Task Force formulated recommendations for treating Juvenile Idiopathic Arthritis (JIA) to target. The Task Force has not yet resolved three issues. The first issue is the lack of a single "best" target. The Task Force decided not to recommend the use of a specific instrument to assess inactiv...

    journal_title：Pediatric rheumatology online journal

    pub_type： 信件

    doi：10.1186/s12969-020-00428-7

    authors： Schoemaker CG,Swart JF,Wulffraat NM

    更新日期：2020-04-16 00:00:00

  • Is early TMJ involvement in children with juvenile idiopathic arthritis clinically detectable? Clinical examination of the TMJ in comparison with contrast enhanced MRI in patients with juvenile idiopathic arthritis.

    abstract：BACKGROUND:To test clinical findings associated with early temporomandibular joint (TMJ) arthritis in comparison to the current gold standard contrast enhanced magnetic resonance imaging (MRI) in children with juvenile idiopathic arthritis (JIA). METHODS:Seventy-six consecutive JIA patients were included in this study...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/s12969-015-0056-2

    authors： Keller H,Müller LM,Markic G,Schraner T,Kellenberger CJ,Saurenmann RK

    更新日期：2015-12-09 00:00:00

  • Decreasing patient cost and travel time through pediatric rheumatology telemedicine visits.

    abstract：BACKGROUND:There is a critical shortage of pediatric rheumatologists in the US. Substantial travel to clinics can impose time and monetary burdens on families. The aim of this study was to evaluate the cost of in-person pediatric rheumatology visits for families and determine if telemedicine clinics resulted in time an...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/s12969-016-0116-2

    authors： Kessler EA,Sherman AK,Becker ML

    更新日期：2016-09-20 00:00:00

  • Damage index in childhood-onset systemic lupus erythematosus in Egypt.

    abstract：BACKGROUND:To investigate the prevalence of cumulative organ damage among Egyptian children with juvenile-onset systemic lupus erythematosus (jSLE) and the relationships between the organ damage and the demographic data, clinical variables, and disease activity. METHODS:A total of 148 patients with jSLE have been foll...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/1546-0096-9-36

    authors： Salah S,Lotfy HM,Mokbel AN,Kaddah AM,Fahmy N

    更新日期：2011-12-09 00:00:00

  • Calm in the midst of cytokine storm: a collaborative approach to the diagnosis and treatment of hemophagocytic lymphohistiocytosis and macrophage activation syndrome.

    abstract：BACKGROUND:Hemophagocytic lymphohistiocytosis (HLH) and macrophage activation syndrome (MAS) were historically thought to be distinct entities, often managed in isolation. In fact, these conditions are closely related. A collaborative approach, which incorporates expertise from subspecialties that previously treated HL...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/s12969-019-0309-6

    authors： Halyabar O,Chang MH,Schoettler ML,Schwartz MA,Baris EH,Benson LA,Biggs CM,Gorman M,Lehmann L,Lo MS,Nigrovic PA,Platt CD,Priebe GP,Rowe J,Sundel RP,Surana NK,Weinacht KG,Mann A,Yuen JC,Meleedy-Rey P,Starmer A,Ban

    更新日期：2019-02-14 00:00:00

  • Being on the juvenile dermatomyositis rollercoaster: a qualitative study.

    abstract：BACKGROUND:Juvenile Dermatomyositis is a rare, potentially life-threatening condition with no known cure. There is no published literature capturing how children and young people feel about their condition, from their perspective. This study was therefore unique in that it asked children and young people what is it lik...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/s12969-019-0332-7

    authors： Livermore P,Gray S,Mulligan K,Stinson JN,Wedderburn LR,Gibson F

    更新日期：2019-06-18 00:00:00

  • Health-related quality of life during early aggressive treatment in patients with polyarticular juvenile idiopathic arthritis: results from randomized controlled trial.

    abstract：BACKGROUND:Juvenile Idiopathic Arthritis (JIA) may cause significant impairment in health-related quality of life (HrQoL), despite effective therapies. The aim of this study was to assess HrQoL during first-year treatment in patients with new-onset polyarticular JIA, and to compare treatment strategies. METHODS:In ACU...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章,随机对照试验

    doi：10.1186/s12969-019-0370-1

    authors： Tarkiainen M,Tynjälä P,Vähäsalo P,Kröger L,Aalto K,Lahdenne P

    更新日期：2019-12-16 00:00:00

  • Establishing percentile charts for hip joint capsule and synovial cavity thickness in apparently healthy children.

    abstract：BACKGROUND:The usefulness of musculoskeletal ultrasonography (MSUS) in paediatric population is limited by lack of reference values. One of such parameters is hip joint capsule thickness, postulated as an early measure for synovitis. However, the joint capsule is hardly a distinguished structure from slit synovial cavi...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/s12969-017-0136-6

    authors： Żuber Z,Owczarek A,Sobczyk M,Migas-Majoch A,Turowska-Heydel D,Sternal A,Michalczak J,Chudek J

    更新日期：2017-01-31 00:00:00

  • Early combination therapy with etanercept and methotrexate in JIA patients shortens the time to reach an inactive disease state and remission: results of a double-blind placebo-controlled trial.

    abstract：BACKGROUND:Remission is the primary objective of treating juvenile idiopathic arthritis (JIA). It is still debatable whether early intensive treatment is superior in terms of earlier achievement of remission. The aim of this study was to evaluate the effectiveness of early etanercept+methotrexate (ETA+MTX) combination ...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/s12969-020-00488-9

    authors： Alexeeva E,Horneff G,Dvoryakovskaya T,Denisova R,Nikishina I,Zholobova E,Malievskiy V,Santalova G,Stadler E,Balykova L,Spivakovskiy Y,Kriulin I,Alshevskaya A,Moskalev A

    更新日期：2021-01-06 00:00:00

  • MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura.

    abstract：BACKGROUND:Due to an increased frequency of vasculitis in FMF patients, many investigators have studied MEFV mutations in patients with HSP. The aim of the study is to investigate the frequency and clinical significance of MEFV mutations in Egyptian children with Henoch-Schonlein purpura (HSP). Investigating MEFV mutat...

    journal_title：Pediatric rheumatology online journal

    pub_type： 杂志文章

    doi：10.1186/1546-0096-12-41

    authors： Salah S,Rizk S,Lotfy HM,El Houchi S,Marzouk H,Farag Y

    更新日期：2014-09-09 00:00:00

  • Correction to: Biomarkers associating endothelial dysregulation in pediatric-onset systemic lupus erythematous.

    abstract：:Following publication of the original article [1], we have been notified that the colour representation of the graph is not correct in Figure 6 legend. ...

    journal_title：Pediatric rheumatology online journal

    pub_type： 已发布勘误

    doi：10.1186/s12969-020-0405-7

    authors： Lee WF,Wu CY,Yang HY,Lee WI,Chen LC,Ou LS,Huang JL

    更新日期：2020-02-18 00:00:00