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1.
Arthritis Care Res (Hoboken) ; 75(11): 2277-2284, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37221153

RESUMO

OBJECTIVE: Synovitis and tenosynovitis are present in juvenile idiopathic arthritis (JIA), both as joint pain and/or inflammation, making them difficult to detect on physical examination. Although ultrasonography (US) allows for discrimination of the 2 entities, only definitions and scoring of synovitis in children have been established. This study was undertaken to produce consensus-based US definitions of tenosynovitis in JIA. METHODS: A systematic literature search was performed. Selection criteria included studies focused on US definition and scoring systems for tenosynovitis in children, as well as US metric properties. Through a 2-step Delphi process, a panel of international US experts developed definitions for tenosynovitis components (step 1) and validated them by testing their applicability on US images of tenosynovitis in several age groups (step 2). A 5-point Likert scale was used to rate the level of agreement. RESULTS: A total of 14 studies were identified. Most used the US definitions developed for adults to define tenosynovitis in children. Construct validity was reported in 86% of articles using physical examination as a comparator. Few studies reported US reliability and responsiveness in JIA. In step 1, experts reached a strong group agreement (>86%) by applying adult definitions in children after one round. After 4 rounds of step 2, the final definitions were validated on all tendons and at all locations, except for biceps tenosynovitis in children <4 years old. CONCLUSION: The study shows that the definition of tenosynovitis used in adults is applicable to children with minimal modifications agreed upon through a Delphi process. Further studies are required to confirm our results.


Assuntos
Artrite Juvenil , Artrite Reumatoide , Sinovite , Tenossinovite , Adulto , Criança , Humanos , Pré-Escolar , Tenossinovite/diagnóstico por imagem , Tenossinovite/etiologia , Artrite Juvenil/complicações , Artrite Juvenil/diagnóstico por imagem , Consenso , Reprodutibilidade dos Testes , Ultrassonografia
2.
Rheumatology (Oxford) ; 49(11): 2200-3, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20688806

RESUMO

OBJECTIVE: We aimed to validate the new paediatric criteria for diagnosis of FMF in a mixed population of 100 French patients. METHODS: The study group included 100 FMF children from the French reference centre for auto-inflammatory disorders. A control group of 40 patients with unexplained recurrent fever was reviewed in parallel. Both groups of patients were assessed for both the Tel Hashomer and the new paediatric criteria published by Yalcinkaya et al. RESULTS: Comparison of Tel Hashomer vs Yalcinkaya's criteria in both groups gave a sensitivity of 99 vs 100%, a specificity of 45 vs 50%, a positive predictive value (PPV) of 81.8 vs 83.3% and a negative predictive value (NPV) of 94.7 vs 100%. However, when we used at least three Yalcinkaya's criteria we obtained a sensitivity of 77% and a specificity of 95% with a PPV of 97.3% and an NPV of 62.3%. The number of mutations in the MEFV gene did not modify results for both sets of criteria. CONCLUSION: The new paediatric Turkish criteria did not make a better contribution to FMF diagnosis than the Tel Hashomer criteria in our mixed population of French children while using an appropriate control group. However, if needed, they can be applied using at least three criteria, which slightly decreases their sensitivity but markedly increases their specificity.


Assuntos
Febre Familiar do Mediterrâneo/diagnóstico , Polimorfismo Genético/genética , Adolescente , Fatores Etários , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos de Coortes , Diagnóstico Diferencial , Febre Familiar do Mediterrâneo/genética , Febre Familiar do Mediterrâneo/fisiopatologia , Feminino , França , Humanos , Lactente , Masculino , Mutação , Fenótipo , Sensibilidade e Especificidade , Fatores de Tempo
3.
Rheumatology (Oxford) ; 48(7): 840-2, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19465590

RESUMO

OBJECTIVE: To assess the clinical characteristics of patients living in France and carrying a single MEFV mutation. METHOD: A retrospective chart review of patients referred to us for recurrent fevers. Genetic testing: systematic screening of exons 2 and 10 was performed in the MEFV gene. A subset of patients was also investigated for other auto-inflammatory genes. RESULTS: We analysed 94 patients (sex ratio:1). Forty-two percent of them were Jews and 17% were Arabs. The median age of onset was 2 years (3 months-47 years). Fever was >39 degrees C in 80% of them, while the duration and frequency of an attack varied (<24 h: 8%; 1-3 days: 56%; >3 days: 36%; >2 months: 15%; 1-2 months: 48%; and <1 month: 37%, respectively). Peritonitis occurred in 97%, pleuritis in 25%, arthralgia in 53%; skin rashes in 20%, aphthosis in 18% and lymphadenopathy in 9%. MEFV mutations were M694V (60%) and M694I (7%). The R92Q TRAPS mutation was retrieved in 3/21 patients tested and the V377I MKD mutation in 1/6. Associated diseases in these patients were periodic fever, aphthosis pharyngitis and adenitis syndrome (4), AS (5), Crohn's disease (2) and Castleman's disease (1). CONCLUSION: The clinical picture of French heterozygote patients with recurrent fevers resembles that of homozygote patients. Most of them required colchicine treatment.


Assuntos
Proteínas do Citoesqueleto/genética , Febre Familiar do Mediterrâneo/genética , Mutação , Adolescente , Adulto , Idade de Início , Amiloidose/complicações , Amiloidose/genética , Árabes , Síndrome de Behçet/complicações , Síndrome de Behçet/genética , Criança , Pré-Escolar , Colchicina/uso terapêutico , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/tratamento farmacológico , Feminino , França , Supressores da Gota/uso terapêutico , Heterozigoto , Homozigoto , Humanos , Lactente , Síndrome do Intestino Irritável/complicações , Síndrome do Intestino Irritável/genética , Judeus , Masculino , Pessoa de Meia-Idade , Pirina , Estudos Retrospectivos
4.
Arthritis Care Res (Hoboken) ; 69(8): 1217-1223, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-27748074

RESUMO

OBJECTIVE: Musculoskeletal ultrasonography (US) has the potential to be an important tool in the assessment of disease activity in childhood arthritides. To assess pathology, clear definitions for synovitis need to be developed first. The aim of this study was to develop and validate these definitions through an international consensus process. METHODS: The decision on which US techniques to use and the components to be included in the definitions, as well as the final wording, were developed by 31 US experts in a consensus process. A Likert scale of 1-5 (where 1 = complete disagreement and 5 = complete agreement) was used. A minimum of 80% of the experts scoring 4 or 5 was required for final approval. The definitions were then validated on 120 standardized US images of the wrist, metacarpophalangeal joints, and tibiotalar joints, displaying various degrees of synovitis at various ages. RESULTS: B-mode and Doppler should be used for assessing synovitis in children. A US definition of the various components (i.e., synovial hypertrophy, effusion, and Doppler signal within the synovium) was developed. The definition was validated on still images with a median of 89% of participants (range 80-100) scoring it as 4 or 5 on a Likert scale. CONCLUSION: US definitions of synovitis and its elementary components covering the entire pediatric age range were successfully developed through a Delphi process and validated in a web-based still-images exercise. These results provide the basis for the standardized US assessment of synovitis in clinical practice and research.


Assuntos
Consenso , Sinovite/classificação , Sinovite/diagnóstico por imagem , Ultrassonografia Doppler/classificação , Criança , Humanos , Ultrassonografia Doppler/normas
6.
Pediatr Rheumatol Online J ; 14(1): 31, 2016 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-27209342

RESUMO

BACKGROUND: Juvenile Idiopathic Arthritis is the most common chronic pediatric rheumatic disease. The announcement of Juvenile Idiopathic Arthritis poses for parents a number of challenges that make it hard to accept a diagnosis of the disease for their child; yet to our knowledge, no study to date has focused on the time period immediately surrounding the diagnosis. This study sets out to describe parents' experiences in engaging with their child's diagnosis of Juvenile Idiopathic Arthritis. METHODS: This is a mixed methods study. Semi-structured interviews of families with a Juvenile Idiopathic Arthritis child were conducted. A grounded-theory thematic analysis was performed. Items that emerged in the interviews were compiled into a self-administered questionnaire. RESULTS: Eleven families participated in the qualitative study. Sixty families responded to the questionnaire. The path of parents was characterized by doubt (before, during and after diagnosis) while the disease tended to take center stage. Doubt was generated through mismatches in perspectives between the parents' circle of acquaintances, physicians, and the parents' own subjective experiences of symptoms. This study also found that social support and parent associations occupied an ambiguous position between help and stigmatization. CONCLUSIONS: Doubt fuels self-energizing spirals that take root as parents learn the news that their child has Juvenile Idiopathic Arthritis. These spirals of doubt may influence parents' experiences at every stage throughout the course of disease. Our data support the implementation of a specific process dedicated to breaking the news of Juvenile Idiopathic Arthritis to parents.


Assuntos
Artrite Juvenil/psicologia , Pais/psicologia , Revelação da Verdade , Adolescente , Ansiedade/etiologia , Artrite Juvenil/diagnóstico , Cuidadores/psicologia , Criança , Pré-Escolar , Aconselhamento , Feminino , Humanos , Masculino , Percepção , Satisfação Pessoal , Qualidade de Vida , Apoio Social , Inquéritos e Questionários
7.
J Rheumatol ; 43(1): 154-60, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26568587

RESUMO

OBJECTIVE: Our aims were to validate the pediatric diagnostic criteria in a large international registry and to compare them with the performance of previous criteria for the diagnosis of familial Mediterranean fever (FMF). METHODS: Pediatric patients with FMF from the Eurofever registry were used for the validation of the existing criteria. The other periodic fevers served as controls: mevalonate kinase deficiency (MKD), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA), and undefined periodic fever from the same registry. The performances of Tel Hashomer, Livneh, and the Yalcinkaya-Ozen criteria were assessed. RESULTS: The FMF group included 339 patients. The control group consisted of 377 patients (53 TRAPS, 45 MKD, 32 CAPS, 160 PFAPA, 87 undefined periodic fevers). Patients with FMF were correctly diagnosed using the Yalcinkaya-Ozen criteria with a sensitivity rate of 87.4% and a specificity rate of 40.7%. On the other hand, Tel Hashomer and Livneh criteria displayed a sensitivity of 45.0 and 77.3%, respectively. Both of the latter criteria displayed a better specificity than the Yalcinkaya-Ozen criteria: 97.2 and 41.1% for the Tel Hashomer and Livneh criteria, respectively. The overall accuracy for the Yalcinkaya-Ozen criteria was 65 and 69.6% (using 2 and 3 criteria), respectively. Ethnicity and residence had no effect on the performance of the Yalcinkaya-Ozen criteria. CONCLUSION: The Yalcinkaya-Ozen criteria yielded a better sensitivity than the other criteria in this international cohort of patients and thus can be used as a tool for FMF diagnosis in pediatric patients from either the European or eastern Mediterranean region. However, the specificity was lower than the previously suggested adult criteria.


Assuntos
Testes Diagnósticos de Rotina/métodos , Febre Familiar do Mediterrâneo/diagnóstico , Febre/diagnóstico , Doenças Hereditárias Autoinflamatórias/diagnóstico , Sistema de Registros , Distribuição de Qui-Quadrado , Criança , Pré-Escolar , Estudos de Coortes , Diagnóstico Diferencial , Europa (Continente) , Febre Familiar do Mediterrâneo/classificação , Febre Familiar do Mediterrâneo/epidemiologia , Feminino , Febre/classificação , Febre/epidemiologia , Doenças Hereditárias Autoinflamatórias/classificação , Doenças Hereditárias Autoinflamatórias/epidemiologia , Humanos , Internacionalidade , Masculino , Estudos Retrospectivos , Índice de Gravidade de Doença , Estatísticas não Paramétricas
9.
Endocr Connect ; 3(1): R13-30, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24550322

RESUMO

In children, hypophosphatemic rickets (HR) is revealed by delayed walking, waddling gait, leg bowing, enlarged cartilages, bone pain, craniostenosis, spontaneous dental abscesses, and growth failure. If undiagnosed during childhood, patients with hypophosphatemia present with bone and/or joint pain, fractures, mineralization defects such as osteomalacia, entesopathy, severe dental anomalies, hearing loss, and fatigue. Healing rickets is the initial endpoint of treatment in children. Therapy aims at counteracting consequences of FGF23 excess, i.e. oral phosphorus supplementation with multiple daily intakes to compensate for renal phosphate wasting and active vitamin D analogs (alfacalcidol or calcitriol) to counter the 1,25-diOH-vitamin D deficiency. Corrective surgeries for residual leg bowing at the end of growth are occasionally performed. In absence of consensus regarding indications of the treatment in adults, it is generally accepted that medical treatment should be reinitiated (or maintained) in symptomatic patients to reduce pain, which may be due to bone microfractures and/or osteomalacia. In addition to the conventional treatment, optimal care of symptomatic patients requires pharmacological and non-pharmacological management of pain and joint stiffness, through appropriated rehabilitation. Much attention should be given to the dental and periodontal manifestations of HR. Besides vitamin D analogs and phosphate supplements that improve tooth mineralization, rigorous oral hygiene, active endodontic treatment of root abscesses and preventive protection of teeth surfaces are recommended. Current outcomes of this therapy are still not optimal, and therapies targeting the pathophysiology of the disease, i.e. FGF23 excess, are desirable. In this review, medical, dental, surgical, and contributions of various expertises to the treatment of HR are described, with an effort to highlight the importance of coordinated care.

11.
Joint Bone Spine ; 79(6): 616-20, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22284608

RESUMO

OBJECTIVES: Chronic recurrent multifocal osteomyelitis (CRMO) is a non-infectious inflammatory bone disease of unknown origin. The extension of CRMO is currently evaluated with bone scintigraphy. The objectives of our study are to describe the results of the non-invasive whole-body magnetic resonance imaging (WB MRI) procedure in children with CRMO, and to discuss the interest of WB MRI in CRMO's follow-up. METHODS: We performed a retrospective chart review of children followed for CRMO in the French center for auto-inflammatory disorders, selecting those who had a WB MRI at diagnosis and/or during follow-up. Clinical, biological, pathological and imaging findings were depicted. RESULTS: There were six girls and three boys, aged 8 to 14 years. All had multiple painful localizations with increased inflammatory markers, except one. The most frequent sites involved on WB MRI were the pelvis, the femurs and the tibias. We also described extra-osseous lesions (intra-articular effusion, myositis) and for the first time polyseritis that could not be caught by X-rays or scintigraphy. Comparison with scintigraphy in three patients showed that spinal, pelvic and femoral lesions were better seen with WB MRI. WB MRI at 12 months follow-up was available in five patients, showing a clear improvement in four of them. Surprisingly, the last patient had a clinical improvement with worsening lesions on WB MRI. CONCLUSION: The WB MRI may contribute to the diagnosis and facilitate the follow-up of children with CRMO. This non-invasive, non-irradiating procedure will also allow depicting more precisely the natural history of bone and extra-osseous lesions in CRMO.


Assuntos
Fêmur/patologia , Imageamento por Ressonância Magnética/métodos , Osteíte/patologia , Ossos Pélvicos/patologia , Tíbia/patologia , Imagem Corporal Total/métodos , Adolescente , Criança , Doença Crônica , Feminino , Fêmur/diagnóstico por imagem , Seguimentos , França , Humanos , Masculino , Osteíte/diagnóstico por imagem , Ossos Pélvicos/diagnóstico por imagem , Cintilografia , Recidiva , Estudos Retrospectivos , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/patologia , Tíbia/diagnóstico por imagem
12.
Joint Bone Spine ; 79 Suppl 1: 3-84, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22541956

RESUMO

OBJECTIVES: To develop and/or update fact sheets about abatacept treatment, in order to assist physicians in the management of patients with inflammatory joint disease. METHODS: 1. selection by a committee of rheumatology experts of the main topics of interest for which fact sheets were desirable 2. identification and review of publications relevant to each topic 3. development and/or update of fact sheets based on three levels of evidence: evidence-based medicine, official recommendations, and expert opinion. The experts were rheumatologists and invited specialists in other fields (dermatologist, cardiologist, pediatric rheumatologist, endocrinologist, hematologist, immunologist, infectiologist), and they had extensive experience with the management of chronic inflammatory diseases, such as rheumatoid arthritis (RA). They were members of the CRI (Club Rhumatismes et Inflammation), a section of the French Rheumatology Society (Societe Francaise de Rhumatologie). Each fact sheet was revised by several experts and the overall process was coordinated by three experts. RESULTS: Several topics of major interest were selected: contraindications of abatacept treatment; management of adverse effects and concomitant diseases that may develop during abatacept treatment; and management of common situations such as pregnancy, surgery, patient older than 75 years of age, and patients with co-morbidities (such as dialysis, hemoglobinopathy, or splenectomy). After a review of the literature and discussion among experts, a consensus was developed about the content of the fact sheets presented here. These fact sheets focus on several points: 1. in RA, initiation and monitoring of the abatacept treatment, management of patients with specific past histories, and specific clinical situations such as pregnancy 2. diseases other than RA, such as juvenile idiopathic arthritis, spondylarthropathies, or autoimmune diseases (systemic lupus erythematosus and other systemic autoimmune diseases) 3. models of letters for informing the rheumatologist and general practitioner 4. patient information about the use of abatacept in RA 5. and data on the new abatacept formulation for subcutaneous administration (approved by the FDA in August 2011 for patients with moderate-to-severe RA). CONCLUSION: These fact sheets built on evidence-based medicine and expert opinion will serve as a practical tool for assisting physicians who manage patients on abatacept. They will be available continuously on www.cri-net.com and will be updated at appropriate intervals.


Assuntos
Imunoconjugados/efeitos adversos , Imunoconjugados/uso terapêutico , Doenças Reumáticas/tratamento farmacológico , Abatacepte , Antirreumáticos/efeitos adversos , Antirreumáticos/uso terapêutico , Comorbidade , Gerenciamento Clínico , Medicina Baseada em Evidências , Humanos , Guias de Prática Clínica como Assunto , Fator de Necrose Tumoral alfa/antagonistas & inibidores
13.
Semin Arthritis Rheum ; 41(3): 503-10, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21862108

RESUMO

UNLABELLED: Uveitis may be associated with various inflammatory diseases. Previous reports suggested that tumor necrosis factor (TNF) blockers, especially anti-TNF monoclonal antibodies, may reduce the incidence of uveitis flares in some inflammatory diseases. Under these circumstances, de novo occurrence, ie, new onset of the first episode of uveitis under anti-TNF therapy, is uncommon. OBJECTIVES: The aim of this study was to collect cases of new onset of uveitis under anti-TNF therapy, using a nationwide network, to describe these cases, and to gather with cases reported in the literature. METHODS: All French rheumatologists, pediatric rheumatologists, and internal medicine practitioners registered on the Club Rhumatismes et Inflammation web site were contacted in an attempt to declare the cases of new onset of uveitis, diagnosed by an ophthalmologist, in patients treated with TNF blockers. The analysis of the literature was performed through PubMed database and manual research. RESULTS: Thirty-one cases were recorded, 19 men, mean age 43 (5-70) years, occurring in ankylosing spondylitis (19 cases), psoriatic arthritis (4 cases), rheumatoid arthritis (6 cases), juvenile idiopathic arthritis (2 cases). The TNF blocker at the time of uveitis was etanercept 23 times, adalimumab 3 times, infliximab 5 times, with a mean total duration of exposure to anti-TNF agents of 27 (4-96) months at uveitis occurrence. Most of the patients were good responders to TNF blockers at the time of uveitis onset. Analysis of the literature revealed 121 similar cases published in English. CONCLUSION: Uveitis occurs de novo under anti-TNF therapy mainly in spondyloarthropathies, but also in rheumatoid arthritis and juvenile idiopathic arthritis patients and more frequently under etanercept.


Assuntos
Antirreumáticos/efeitos adversos , Doenças Reumáticas/tratamento farmacológico , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Uveíte/induzido quimicamente , Adulto , Idoso , Antirreumáticos/uso terapêutico , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
14.
Joint Bone Spine ; 78 Suppl 1: 15-185, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21703545

RESUMO

OBJECTIVES: To develop and/or update fact sheets about TNFα antagonists treatments, in order to assist physicians in the management of patients with inflammatory joint disease. METHODS: 1. selection by a committee of rheumatology experts of the main topics of interest for which fact sheets were desirable; 2. identification and review of publications relevant to each topic; 3. development and/or update of fact sheets based on three levels of evidence: evidence-based medicine, official recommendations, and expert opinion. The experts were rheumatologists and invited specialists in other fields, and they had extensive experience with the management of chronic inflammatory diseases, such as rheumatoid. They were members of the CRI (Club Rhumatismes et Inflammation), a section of the Société Francaise de Rhumatologie. Each fact sheet was revised by several experts and the overall process was coordinated by three experts. RESULTS: Several topics of major interest were selected: contraindications of TNFα antagonists treatments, the management of adverse effects and concomitant diseases that may develop during these therapies, and the management of everyday situations such as pregnancy, surgery, and immunizations. After a review of the literature and discussions among experts, a consensus was developed about the content of the fact sheets presented here. These fact sheets focus on several points: 1. in RA and SpA, initiation and monitoring of TNFα antagonists treatments, management of patients with specific past histories, and specific clinical situations such as pregnancy; 2. diseases other than RA, such as juvenile idiopathic arthritis; 3. models of letters for informing the rheumatologist and general practitioner; 4. and patient information. CONCLUSION: These TNFα antagonists treatments fact sheets built on evidence-based medicine and expert opinion will serve as a practical tool for assisting physicians who manage patients on these therapies. They will be available continuously at www.cri-net.com and updated at appropriate intervals.


Assuntos
Anticorpos Monoclonais/uso terapêutico , Artrite Reumatoide/tratamento farmacológico , Espondilite Anquilosante/tratamento farmacológico , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Adalimumab , Adulto , Anticorpos Monoclonais/efeitos adversos , Anticorpos Monoclonais Humanizados , Etanercepte , Medicina Baseada em Evidências , Feminino , Humanos , Imunoglobulina G/efeitos adversos , Imunoglobulina G/uso terapêutico , Infliximab , Masculino , Pessoa de Meia-Idade , Guias de Prática Clínica como Assunto , Gravidez , Ensaios Clínicos Controlados Aleatórios como Assunto , Receptores do Fator de Necrose Tumoral/uso terapêutico
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