Rumsey D.G.,University of Alberta |
Myones B.,Pediatric Rheumatology |
Massicotte P.,University of Alberta
Blood Cells, Molecules, and Diseases | Year: 2017
The antiphospholipid syndrome (APS) is a multisystem autoimmune disease characterized by recurrent fetal loss and thromboembolic events associated with the presence of elevated titres of antiphospholipid antibodies (aPL). The purpose of this review is to summarize what is currently known about the diagnosis and treatment of pediatric APS, to highlight key differences between APS presenting in adults versus children throughout, and to identify areas where future research is needed. © 2017 Elsevier Inc.
Filocamo G.,Pediatric Rheumatology |
Torreggiani S.,University of Milan |
Agostoni C.,University of Milan |
Esposito S.,University of Perugia
Pediatric Rheumatology | Year: 2017
Granulomatosis with polyangiitis is an ANCA-associated systemic vasculitis with a low incidence in the pediatric population. Lung involvement is a common manifestation in children affected by granulomatosis with polyangiitis, both at disease's onset and during flares. Its severity is variable, ranging from asymptomatic pulmonary lesions to dramatic life-threatening clinical presentations such as diffuse alveolar haemorrhage. Several radiologic findings have been described, but the most frequent abnormalities detected are nodular lesions and fixed infiltrates. Interstitial involvement, pleural disease and pulmonary embolism are less common. Histology may show necrotizing or granulomatous vasculitis of small arteries and veins of the lung, but since typical features may be patchy, the site for lung biopsy should be carefully chosen with the help of imaging techniques such as computed tomography. Bronchoalveolar lavage is helpful to confirm the diagnosis of alveolar haemorrhage. Pulmonary function tests are frequently altered, showing a reduction in the diffusion capacity for carbon monoxide, which can be associated with obstructive abnormalities related to airway stenosis. Nodular lung lesions tend to regress with immunosuppressive therapy, but lung disease may also require second line treatments such as plasmapheresis. In cases of massive diffuse alveolar haemorrhage, ventilator support is crucial in the management of the patient. © 2017 The Author(s).
Aguiar C.L.,Cohen Childrens Medical Centernorth Shore Long Island Jewish Medical Center |
Soybilgic A.,University of Illinois at Chicago |
Avcin T.,University of Ljubljana |
Myones B.L.,Pediatric Rheumatology
Current Rheumatology Reports | Year: 2015
Antiphospholipid syndrome (APS) is a multisystem autoimmune condition characterized by vascular thromboses associated with persistently positive antiphospholipid antibodies. There is currently a paucity of data (incidence, prevalence, thrombosis risk, and effective treatment) in pediatric APS. The purpose of this report is to review the current literature on APS in children and neonates, identify the gaps in current knowledge, and suggest avenues for studies to fill those gaps. © 2015, Springer Science+Business Media New York.
PubMed | Red Cross, Semmelweis University, University of Calgary, Hospital Sant Joan Of Deu and 47 more.
Type: | Journal: Pediatric rheumatology online journal | Year: 2015
Rheumatic diseases in children are associated with significant morbidity and poor health-related quality of life (HRQOL). There is no health-related quality of life (HRQOL) scale available specifically for children with less common rheumatic diseases. These diseases share several features with systemic lupus erythematosus (SLE) such as their chronic episodic nature, multi-systemic involvement, and the need for immunosuppressive medications. HRQOL scale developed for pediatric SLE will likely be applicable to children with systemic inflammatory diseases.We adapted Simple Measure of Impact of Lupus Erythematosus in Youngsters (SMILEY) to Simple Measure of Impact of Illness in Youngsters (SMILY-Illness) and had it reviewed by pediatric rheumatologists for its appropriateness and cultural suitability. We tested SMILY-Illness in patients with inflammatory rheumatic diseases and then translated it into 28 languages. Nineteen children (79% female, n=15) and 17 parents participated. The mean age was 124 years, with median disease duration of 21 months (1-172 months). We translated SMILY-Illness into the following 28 languages: Danish, Dutch, French (France), English (UK), German (Germany), German (Austria), German (Switzerland), Hebrew, Italian, Portuguese (Brazil), Slovene, Spanish (USA and Puerto Rico), Spanish (Spain), Spanish (Argentina), Spanish (Mexico), Spanish (Venezuela), Turkish, Afrikaans, Arabic (Saudi Arabia), Arabic (Egypt), Czech, Greek, Hindi, Hungarian, Japanese, Romanian, Serbian and Xhosa.SMILY-Illness is a brief, easy to administer and score HRQOL scale for children with systemic rheumatic diseases. It is suitable for use across different age groups and literacy levels. SMILY-Illness with its available translations may be used as useful adjuncts to clinical practice and research.
Horneff G.,Asklepios Clinic Sankt Augustin |
Foeldvari I.,Hamburger Zentrum fur Kinder und Jugendrheumatologie |
Minden K.,Childrens University Hospital Charite and Epidemiology Unit |
Moebius D.,Carl Thiem Clinics |
Hospach T.,Pediatric Rheumatology
Rheumatology | Year: 2011
Objectives. TNF inhibitors have markedly improved the therapeutic options for JIA patients. The report on malignancies observed in children exposed to TNF inhibitors flagged up questions about a potential increased risk especially for lymphoma. Method. Cases with malignancies observed in the German registry have been reviewed to give detailed information on the patients' pretreatment and outcome. Results. From 2001 to 2009, five cases of malignancies were documented in the German JIA biologics registry actually covering 1260 patients, one of each non-Hodgkin's lymphoma, Hodgkin's lymphoma, thyroid carcinoma, yolk sac carcinoma and cervical dysplasia. All patients have been exposed to a number of cytotoxic drugs including MTX, LEF, AZA, CSA before institution of TNF-α blockers. The malignant diagnosis has been given after exposure to etanercept for 3 weeks up to >6 years. Two patients have also been exposed to adalimumab or infliximab. At occurrence of the malignancy, three patients were still on etanercept, four on MTX and one on infliximab. In three patients, the malignancy occurred at adulthood. All patients recovered. Conclusion. While in some of the patients exposed to TNF inhibitors the exposure time was too short for a meaningful relationship, in others the extensive pretreatment may also be causative. Two lymphomas have been observed while other entities occurred only once. JIA patients exposed to biologics or cytotoxic drugs have to be followed carefully and long-term observation has to be continued in adulthood. © The Author 2010. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved.
PubMed | Pediatric Rheumatology, Genomic Health, French Institute of Health and Medical Research and University of Paris Descartes
Type: | Journal: Journal of clinical immunology | Year: 2016
Increased type I interferon is considered relevant to the pathology of a number of monogenic and complex disorders spanning pediatric rheumatology, neurology, and dermatology. However, no test exists in routine clinical practice to identify enhanced interferon signaling, thus limiting the ability to diagnose and monitor treatment of these diseases. Here, we set out to investigate the use of an assay measuring the expression of a panel of interferon-stimulated genes (ISGs) in children affected by a range of inflammatory diseases.A cohort study was conducted between 2011 and 2016 at the University of Manchester, UK, and the Institut Imagine, Paris, France. RNA PAXgene blood samples and clinical data were collected from controls and symptomatic patients with a genetically confirmed or clinically well-defined inflammatory phenotype. The expression of six ISGs was measured by quantitative polymerase chain reaction, and the median fold change was used to calculate an interferon score (IS) for each subject compared to a previously derived panel of 29 controls (where +2 SD of the control data, an IS of >2.466, is considered as abnormal). Results were correlated with genetic and clinical data.Nine hundred ninety-two samples were analyzed from 630 individuals comprising symptomatic patients across 24 inflammatory genotypes/phenotypes, unaffected heterozygous carriers, and controls. A consistent upregulation of ISG expression was seen in 13 monogenic conditions (455 samples, 265 patients; median IS 10.73, interquartile range (IQR) 5.90-18.41), juvenile systemic lupus erythematosus (78 samples, 55 patients; median IS 10.60, IQR 3.99-17.27), and juvenile dermatomyositis (101 samples, 59 patients; median IS 9.02, IQR 2.51-21.73) compared to controls (78 samples, 65 subjects; median IS 0.688, IQR 0.427-1.196), heterozygous mutation carriers (89 samples, 76 subjects; median IS 0.862, IQR 0.493-1.942), and individuals with non-molecularly defined autoinflammation (89 samples, 69 patients; median IS 1.07, IQR 0.491-3.74).An assessment of six ISGs can be used to define a spectrum of inflammatory diseases related to enhanced type I interferon signaling. If future studies demonstrate that the IS is a reactive biomarker, this measure may prove useful both in the diagnosis and the assessment of treatment efficacy.
Rossi L.,Pediatric Rheumatology |
Zulian F.,University of Padua |
Stirnemann J.,Jean Verdier Hospital |
Billette de Villemur T.,Trousseau Hospital |
Belmatoug N.,Beaujon Hospital
Joint Bone Spine | Year: 2011
Objectives: To describe the initial manifestations and clinical characteristics of bone involvement in a cohort of patients with pediatric-onset Gaucher disease (GD). Methods: Patients with pediatric-onset GD, followed at the French Reference Center of Lysosomal Diseases, were retrospectively evaluated. Demographic characteristics, frequency, type and site of the relevant skeletal event were recorded. Results: Forty-four patients, 41 type 1 and three type 3 GD, entered the study. Bone involvement, present in 32% of the patients, was the second most frequent presenting feature of the disease after hepatosplenomegaly (41%). Children with bone symptoms at presentation were significantly older than those without (9.8 vs 5.6 years). At diagnosis, 45% of patients had a positive anamnesis of skeletal symptoms (bone pain and/or bone crisis). Two thirds of patients in which X-ray were taken showed evidence of at least one bone abnormality, mainly Erlenmeyer deformity and avascular necrosis. Seventy three percent of patients had at least one major skeletal event in their clinical history; among these, 45% had the first major skeletal event in pediatric age. Conclusions: Skeletal involvement is a frequent presenting feature of GD in children. Given its high prevalence, it should be carefully evaluated, in order to timely start appropriate therapy and prevent irreversible complications. © 2010 Société française de rhumatologie.
Cochard M.,Pediatric Rheumatology |
Clet J.,Pediatric Rheumatology |
Le L.,Pediatric Rheumatology |
Pillet P.,Pediatric Rheumatology |
And 4 more authors.
Rheumatology | Year: 2010
Objectives: To determine whether PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) patients have a positive family history (FH) for recurrent fever syndromes. Method: For all patients with PFAPA seen in two paediatric rheumatology centres (Romandy, Switzerland and Bordeaux, France), parents were interviewed to record the FH for periodic fever. As controls, we interviewed a group of children without history of recurrent fever. Results: We recruited 84 patients with PFAPA and 47 healthy children. The FH for recurrent fever (without an infectious cause and recurring for at least half a year) was positive in 38/84 (45%), and was positive for PFAPA (diagnosis confirmed by a physician) in 10/84 (12%) of the PFAPA patients. For 29 of the 38 patients with positive FH, the affected person was a sibling or a parent. None of the healthy children had a positive FH for recurrent fever or PFAPA. A positive FH for rheumatological diseases was seen in both groups of children. Conclusion: These data show that a significant percentage of PFAPA patients present a positive FH of recurrent fever and PFAPA. This familial susceptibility suggests a potential genetic origin for this syndrome. © The Author 2010. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved.
Torreggiani S.,Pediatric Rheumatology |
Torcoletti M.,Pediatric Rheumatology |
Cuoco F.,Pediatric Rheumatology |
Di Landro G.,Pediatric Rheumatology |
And 2 more authors.
Pediatric Rheumatology | Year: 2013
Chorea is a movement disorder that may be found in children due to several causes. Here we focus especially on Systemic Lupus Erythematosus associated chorea. First we outline its epidemiology, hypothesized pathogenesis, clinical presentation and treatment, then we report four significant clinical cases, which represent well the extreme variability of set of symptoms that may accompany lupus chorea. Our experience, according to literature, suggests that choreic movements in a child should alert the pediatrician and lead him to investigate a potential neurological involvement of Systemic Lupus Erythematosus. © 2013 Torreggiani et al.; licensee BioMed Central Ltd.
PubMed | Pediatric Rheumatology and University GenovaGenova
Type: | Journal: Frontiers in pharmacology | Year: 2016
Systemic juvenile idiopathic arthritis (sJIA) is the form of childhood arthritis whose treatment is most challenging. The demonstration of the prominent involvement of interleukin (IL)-1 in disease pathogenesis has provided the rationale for the treatment with biologic medications that antagonize this cytokine. The three IL-1 blockers that have been tested so far (anakinra, canakinumab, and rilonacept) have all been proven effective and safe, although only canakinumab is currently approved for use in sJIA. The studies on IL-1 inhibition in sJIA published in the past few years suggest that children with fewer affected joints, higher neutrophil count, younger age at disease onset, shorter disease duration, or, possibly, higher ferritin level may respond better to anti-IL-1 treatment. In addition, it has been postulated that use of IL-1 blockade as first-line therapy may take advantage of a window of opportunity, in which disease pathophysiology can be altered to prevent the occurrence of chronic arthritis. In this review, we analyze the published literature on IL-1 inhibitors in sJIA and discuss the rationale underlying the use of these medications, the results of therapeutic studies, and the controversial issues.