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1.
Pediatr Rheumatol Online J ; 18(1): 17, 2020 Feb 17.
Artigo em Inglês | MEDLINE | ID: mdl-32066461

RESUMO

BACKGROUND: Rare autoinflammatory diseases (AIDs) including Cryopyrin-Associated Periodic Syndrome (CAPS), Tumor Necrosis Receptor-Associated Periodic Syndrome (TRAPS) and Mevalonate Kinase Deficiency Syndrome (MKD)/ Hyper-IgD Syndrome (HIDS) are genetically defined and characterized by recurrent fever episodes and inflammatory organ manifestations. Early diagnosis and early start of effective therapies control the inflammation and prevent organ damage. The PRO-KIND initiative of the German Society of Pediatric Rheumatology (GKJR) aims to harmonize the diagnosis and management of children with rheumatic diseases nationally. The task of the PRO-KIND CAPS/TRAPS/MKD/HIDS working group was to develop evidence-based, consensus diagnosis and management protocols including the first AID treat-to-target strategies. METHODS: The national CAPS/TRAPS/MKD/HIDS expert working group was established, defined its aims and conducted a comprehensive literature review synthesising the recent (2013 to 2018) published evidence including all available recommendations for diagnosis and management. General and disease-specific statements were anchored in the 2015 SHARE recommendations. An iterative expert review process discussed, adapted and refined these statements. Ultimately the GKJR membership vetted the proposed consensus statements, agreement of 80% was mandatory for inclusion. The approved statements were integrated into three disease specific consensus treatment plans (CTPs). These were developed to enable the implementation of evidence-based, standardized care into clinical practice. RESULTS: The CAPS/TRAPS/MKD/HIDS expert working group of 12 German and Austrian paediatric rheumatologists completed the evidence synthesis and modified a total of 38 statements based on the SHARE recommendation framework. In iterative reviews 36 reached the mandatory agreement threshold of 80% in the final GKJR member survey. These included 9 overarching principles and 27 disease-specific statements (7 for CAPS, 11 TRAPS, 9 MKD/HIDS). A diagnostic algorithm was established based on the synthesized evidence. Statements were integrated into diagnosis- and disease activity specific treat-to-target CTPs for CAPS, TRAPS and MKD/HIDS. CONCLUSIONS: The PRO-KIND CAPS/TRAPS/MKD/HIDS working group established the first evidence-based, actionable treat-to-target consensus treatment plans for three rare hereditary autoinflammatory diseases. These provide a path to a rapid evaluation, effective control of disease activity and tailored adjustment of therapies. Their implementation will decrease variation in care and optimize health outcomes for children with AID.

2.
Artigo em Inglês | MEDLINE | ID: mdl-31953309

RESUMO

OBJECTIVE: Autoimmune encephalitis (AE) is an important and treatable cause of acute encephalitis. Diagnosis of AE in a developing child is challenging because of overlap in clinical presentations with other diseases and complexity of normal behavior changes. Existing diagnostic criteria for adult AE require modification to be applied to children, who differ from adults in their clinical presentations, paraclinical findings, autoantibody profiles, treatment response, and long-term outcomes. METHODS: A subcommittee of the Autoimmune Encephalitis International Working Group collaborated through conference calls and email correspondence to consider the pediatric-specific approach to AE. The subcommittee reviewed the literature of relevant AE studies and sought additional input from other expert clinicians and researchers. RESULTS: Existing consensus criteria for adult AE were refined for use in children. Provisional pediatric AE classification criteria and an algorithm to facilitate early diagnosis are proposed. There is also discussion about how to distinguish pediatric AE from conditions within the differential diagnosis. CONCLUSIONS: Diagnosing AE is based on the combination of a clinical history consistent with pediatric AE and supportive diagnostic testing, which includes but is not dependent on antibody testing. The proposed criteria and algorithm require validation in prospective pediatric cohorts.

3.
Artigo em Inglês | MEDLINE | ID: mdl-31919503

RESUMO

OBJECTIVE: To identify early predictors of disease activity at 18 months in JIA using clinical and biomarker profiling. METHODS: Clinical and biomarker data were collected at JIA diagnosis in a prospective longitudinal inception cohort of 82 children with non-systemic JIA, and their ability to predict an active joint count of 0, a physician global assessment of disease activity of ≤1 cm, and inactive disease by Wallace 2004 criteria 18 months later was assessed. Correlation-based feature selection and ReliefF were used to shortlist predictors and random forest models were trained to predict outcomes. RESULTS: From the original 112 features, 13 effectively predicted 18-month outcomes. They included age, number of active/effused joints, wrist, ankle and/or knee involvement, ESR, ANA positivity and plasma levels of five inflammatory biomarkers (IL-10, IL-17, IL-12p70, soluble low-density lipoprotein receptor-related protein 1 and vitamin D), at enrolment. The clinical plus biomarker panel predicted active joint count = 0, physician global assessment ≤ 1, and inactive disease after 18 months with 0.79, 0.80 and 0.83 accuracy and 0.84, 0.83, 0.88 area under the curve, respectively. Using clinical features alone resulted in 0.75, 0.72 and 0.80 accuracy, and area under the curve values of 0.81, 0.78 and 0.83, respectively. CONCLUSION: A panel of five plasma biomarkers combined with clinical features at the time of diagnosis more accurately predicted short-term disease activity in JIA than clinical characteristics alone. If validated in external cohorts, such a panel may guide more rationally conceived, biologically based, personalized treatment strategies in early JIA.

4.
J Clin Invest ; 2019 Dec 24.
Artigo em Inglês | MEDLINE | ID: mdl-31874111

RESUMO

BACKGROUND: Undifferentiated systemic autoinflammatory diseases (USAID) present diagnostic and therapeutic challenges. Chronic interferon (IFN) signaling and cytokine dysregulation may identify diseases with available targeted treatments. METHODS: Sixty-six consecutively-referred USAID patients underwent standardized evaluation of Type-I IFN-response-gene-signature (IRG-S); cytokine profiling, and genetic evaluation by next-generation sequencing. RESULTS: Thirty-six USAID patients (55%) had elevated IRG-S. Neutrophilic panniculitis (40% vs 0%), basal ganglia calcifications (46% vs 0%), interstitial lung disease (47% vs 5%), and myositis (60% vs 10%) were more prevalent in patients with elevated IRG-S. Moderate IRG-S elevation and highly-elevated serum IL-18 distinguished eight patients with pulmonary alveolar proteinosis (PAP) and recurrent macrophage activation syndrome (MAS). Among patients with panniculitis and progressive cytopenias, two patients were compound heterozygous for novel LRBA mutations, four patients harbored novel splice variants in IKBKG/NEMO, and six patients had de novo frameshift mutations in SAMD9L. Of additional 12 patients with elevated IRG-S and CANDLE-, SAVI- or Aicardi-Goutières-Syndrome (AGS)-like phenotypes, five patients carried mutations in either SAMHD1, TREX1, PSMB8 or PSMG2. Two patients had anti-MDA5 autoantibody-positive juvenile dermatomyositis, and seven could not be classified. Patients with LRBA, IKBKG/NEMO and SAMD9L mutations showed a pattern of IRG elevation that suggests prominent NF-κB activation different from the canonical interferonopathies CANDLE, SAVI and AGS. CONCLUSIONS: In patients with elevated IRG-S, we identified characteristic clinical features and 3 additional autoinflammatory diseases: IL-18-mediated PAP and recurrent MAS (IL-18PAP-MAS), NEMO∆5-associated autoinflammatory syndrome (NEMO-NDAS), and SAMD9L-associated autoinflammatory disease (SAMD9L-SAAD). The IRG-S expands the diagnostic armamentarium in evaluating USAIDs and points to different pathways regulating IRG expression.

5.
ACR Open Rheumatol ; 1(3): 182-187, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31777793

RESUMO

Objective: The objective of this study was to identify patient-reported school barriers and their associated impact in juvenile idiopathic arthritis (JIA). Methods: A cross-sectional observational study of children aged 8 to 17, diagnosed with JIA, and followed in the rheumatology clinic/Alberta Children's Hospital was performed. Demographics, diagnosis, and disease course were obtained from health records. A questionnaire was administered to the child to assess the barriers experienced by JIA patients at school. The questionnaire collected information about school attendance/performance, impact of JIA symptoms (eg, pain and fatigue), physical challenges and accommodations, communication, participation and peers, and school support. Descriptive statistics were used to analyze the data. Results: A total of 98 children with JIA were recruited into the study. The median age of participants was 13 years (interquartile range 11-15). The JIA subtypes in this cohort reflected the normal JIA distribution. Physical challenges at school (eg, gym, writing, and sitting for long periods of time) were reported by 42.1% of patients. Accommodations (eg, modified gym, accommodation letter, and computer access) were used by 23% of patients. The inability to participate in activities in class or outside with their peers occurred for 32.2% of patients and in gym for 40.7% of patients. Social concerns included embarrassment from talking about their illness, worry regarding being treated differently, and being told they were fabricating their illness. Conclusion: Children with JIA experienced barriers at school, especially physical challenges, with a need for accommodations in a proportion of children. Decreased participation and increased social anxiety were additional key barriers.

6.
BMC Health Serv Res ; 19(1): 572, 2019 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-31412858

RESUMO

BACKGROUND: The study evaluates Performance Measures (PMs) for Juvenile Idiopathic Arthritis (JIA): The percentage of patients with new onset JIA with at least one visit to a pediatric rheumatologist in the first year of diagnosis (PM1); and the percentage of patients with JIA under rheumatology care seen in follow-up at least once per year (PM2). METHODS: Validated JIA case ascertainment algorithms were used to identify cases from provincial health administrative databases in Manitoba, Canada in patients < 16 years between 01/04/2005 and 31/03/2015. PM1: Using a 3-year washout period, the percentage of incident JIA patients with ≥1 visit to a pediatric rheumatologist in the first year was calculated. For each fiscal year, the proportion of patients expected to be seen in follow-up who had a visit were calculated (PM2). The proportion of patients with gaps in care of > 12 and > 14 months between consecutive visits were also calculated. RESULTS: One hundred ninety-four incident JIA cases were diagnosed between 01/04/2008 and 03/31/2015. The median age at diagnosis was 9.1 years and 71% were female. PM1: Across the years, 51-81% of JIA cases saw a pediatric rheumatologist within 1 year. PM2: Between 58 and 78% of patients were seen in yearly follow-up. Gaps > 12, and > 14, months were observed once during follow-up in 52, and 34%, of cases, and ≥ twice in 11, and 5%, respectively. CONCLUSIONS: Suboptimal access to pediatric rheumatologist care was observed which could lead to diagnostic and treatment delays and lack of consistent follow-up, potentially negatively impacting patient outcomes.


Assuntos
Artrite Juvenil/terapia , Acesso aos Serviços de Saúde/estatística & dados numéricos , Encaminhamento e Consulta/estatística & dados numéricos , Algoritmos , Artrite Juvenil/epidemiologia , Criança , Feminino , Seguimentos , Humanos , Masculino , Manitoba/epidemiologia , Determinação de Necessidades de Cuidados de Saúde , Reumatologia
7.
Neurol Neuroimmunol Neuroinflamm ; 6(4): e567, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31355303

RESUMO

Objective: Childhood primary angiitis of the CNS (cPACNS) is a devastating neurologic disease. No standardized treatment protocols exist, and evidence is limited to open-label cohort studies and case reports. The aim of this review is to summarize the literature and provide informed treatment recommendations. Methods: A scoping review of cPACNS literature from January 2000 to December 2018 was conducted using Ovid, MEDLINE, PubMed, Embase, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, ClinicalTrials.gov, Vasculitis Foundation, European Vasculitis Society, CanVasc, Google Scholar, and Web of Science. Potentially relevant articles were selected for full-text review using the STROBE checklist if they met the following inclusion criteria: (1) reported treatment, (2) addressed pediatrics, (3) focused on the disease of interest, (4) included ≥5 patients, (5) original research, and (6) full-length articles. Reviews, expert opinions, editorials, case reports with <5 patients, articles lacking treatment information, or non-English articles were excluded. A standardized assessment tool measured study quality. Treatment and outcomes were summarized. Results: Of 2,597 articles screened, 7 studies were deemed high quality. No trials were available so no meta-analysis was possible. Overall, treatment strategies recommended are induction with acute antithrombotic therapy subsequently followed by high-dose oral prednisone taper over 3-12 months and long-term platelet therapy. In angiography-positive progressive-cPACNS and angiography-negative-cPACNS, we also recommend 6 months of IV cyclophosphamide therapy, with trimethoprim/sulfamethoxazole as part of induction, and maintenance therapy with mycophenolate mofetil/mycophenolic acid. Conclusion: No grade-A evidence exists; however, this review provides recommendations for treatment of cPACNS.

8.
Pediatr Rheumatol Online J ; 17(1): 20, 2019 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-31060557

RESUMO

BACKGROUND: This study aims to describe current practice in identifying and measuring health care resource use and unit costs in economic evaluations or costing studies of juvenile idiopathic arthritis (JIA). METHODS: A scoping review was conducted (in July 2018) in PubMed and Embase to identify economic evaluations, costing studies, or resource utilization studies focusing on patients with JIA. Only English language peer-reviewed articles reporting primary research were included. Data from all included full-text articles were extracted and analysed to identify the reported health care resource use items. In addition, the data sources used to obtain these resource use and unit costs were identified for all included articles. RESULTS: Of 1176 unique citations identified by the search, 20 full-text articles were included. These involved 4 full economic evaluations, 5 cost-outcome descriptions, 8 cost descriptions, and 3 articles reporting only resource use. The most commonly reported health care resource use items involved medication (80%), outpatient and inpatient hospital visits (80%), laboratory tests (70%), medical professional visits (70%) and other medical visits (65%). Productivity losses of caregivers were much more often incorporated than (future) productivity losses of patients (i.e. 55% vs. 15%). Family borne costs were not commonly captured (ranging from 15% for school costs to 50% for transportation costs). Resource use was mostly obtained from family self-reported questionnaires. Estimates of unit costs were mostly based on reimbursement claims, administrative data, or literature. CONCLUSIONS: Despite some consistency in commonly included health care resource use items, variability remains in including productivity losses, missed school days and family borne costs. As these items likely substantially influence the full cost impact of JIA, the heterogeneity found between the items reported in the included studies limits the comparability of the results. Therefore, standardization of resource use items and unit costs to be collected is required. This standardization will provide guidance to future research and thereby improve the quality and comparability of economic evaluations or costing studies in JIA and potentially other childhood diseases. This would allow better understanding of the burden of JIA, and to estimate how it varies across health care systems.


Assuntos
Artrite Juvenil/terapia , Recursos em Saúde/estatística & dados numéricos , Assistência Ambulatorial/economia , Assistência Ambulatorial/estatística & dados numéricos , Artrite Juvenil/economia , Cuidadores/economia , Cuidadores/estatística & dados numéricos , Criança , Técnicas de Laboratório Clínico/economia , Técnicas de Laboratório Clínico/estatística & dados numéricos , Eficiência , Utilização de Instalações e Serviços , Custos de Cuidados de Saúde/estatística & dados numéricos , Recursos em Saúde/economia , Hospitalização/economia , Hospitalização/estatística & dados numéricos , Humanos
9.
Artigo em Inglês | MEDLINE | ID: mdl-31058454

RESUMO

OBJECTIVE: Juvenile idiopathic arthritis (JIA) affects body structure and function and physical activity outcomes. This study examined differences in gait kinematics during fixed speed treadmill walking for youth with JIA and typically developing (TD) youth. STUDY DESIGN: Matched pair cohort study. METHODS: Sagittal plane gait kinematics were obtained using a 12-camera system (Motion Analysis, USA) for youth with JIA (n=30) and their age and sex matched TD peers (n=30) (Ethics ID# REB15-3125). Outcomes included disease activity, pain, wellbeing, and peak sagittal hip, knee and ankle joint angles. Kinematics were analyzed for the indexed leg (IL): affected (JIA)-dominant (TD); and contralateral leg (CL): less/not affected (JIA)-non-dominant (TD). Kinematics differences were investigated using multivariate Hotelling T2 (paired samples; alpha 0.05) and simultaneous confidence intervals (CI). Potential confounders (age, sex, body mass index) were assessed using linear mixed effects models with random effect for pairs. RESULTS: Youth with JIA had low disease activity, pain, and disability scores. Deviations in bilateral joint angles were observed (IL p=0.015; CL p=0.009). Youth with JIA walked with greater initial hip flexion [mean difference (MD) (95% CI) IL 2.8° (-0.6,6.2); CL 3.0° (-0.9,6.9)] and lower knee extension [IL -2.2° (-4.4,0.1); CL -3.3° (-7.4,0.8)], and lower hip extension during terminal stance [IL 3.4° (-0.3,7.0); CL 4.0° (1.0,7.0)]. CONCLUSION: Despite low disease activity youth with JIA avoided the close packed knee position, commonly associated with joint inflammation and pain. These findings highlight secondary consequences of JIA and inform targets for physiotherapy management for youth with JIA. This article is protected by copyright. All rights reserved.

10.
Artigo em Inglês | MEDLINE | ID: mdl-31074591

RESUMO

OBJECTIVE: Under-valuing the effectiveness of conventional treatments may lead to overtreatment with biologic medications in children with juvenile idiopathic arthritis (JIA). We used data from a nation-wide inception cohort and strict methods to control bias to estimate the real-world effectiveness of simple JIA treatment strategies recommended in current guidelines. METHODS: Children with JIA recruited at 16 Canadian centers in 2005-2010 were followed for up to 5 years. For each child, all observed treatment changes over time were assessed by independent physicians using prospectively collected data and published response criteria. Success was defined as attainment of inactive disease or maintenance of this state when stepping down treatment; minimally active disease was acceptable for children with polyarticular course. Success rates were calculated for treatments tried ≥25 times and logistic regression identified features associated with success. RESULTS: 4,429 treatment episodes were observed in 1352 children. NSAID monotherapy was tried 697 times, mostly as initial treatment when <5 joints were involved, with 54.4% success (CI: 50.3-58.6). NSAID plus joint injections had 64.7% success (CI: 59.8-69.7). Adding methotrexate to NSAID and/or joint injections, tried 566 times, had 60.5% success (CI: 55.7-65.3). In adjusted analyses, each additional active joint reduced chances of success for NSAID (OR=0.90, CI: 0.85-0.94) and for methotrexate combinations (OR=0.96, CI: 0.94-0.99). Each additional year after disease onset reduced chances of success with methotrexate combinations (OR=0.83, CI: 0.72-0.95). CONCLUSION: These real-world effectiveness estimates show conventional non-biologic treatment strategies recommended in current guidelines are effective in achieving treatment targets in many children with JIA. This article is protected by copyright. All rights reserved.

11.
Arthritis Rheumatol ; 71(10): 1747-1755, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31008556

RESUMO

OBJECTIVE: Individuals with deficiency of adenosine deaminase 2 (DADA2), a recently recognized autosomal recessive disease, present with various systemic vascular and inflammatory manifestations, often with young age at disease onset or with early onset of recurrent strokes. Their clinical features and histologic findings overlap with those of childhood-onset polyarteritis nodosa (PAN), a primary "idiopathic" systemic vasculitis. Despite similar clinical presentation, individuals with DADA2 may respond better to biologic therapy than to traditional immunosuppression. The aim of this study was to screen an international registry of children with systemic primary vasculitis for variants in ADA2. METHODS: The coding exons of ADA2 were sequenced in 60 children and adolescents with a diagnosis of PAN, cutaneous PAN, or unclassifiable vasculitis (UCV), any chronic vasculitis with onset at age 5 years or younger, or history of stroke. The functional consequences of the identified variants were assessed by ADA2 enzyme assay and immunoblotting. RESULTS: Nine children with DADA2 (5 with PAN, 3 with UCV, and 1 with antineutrophil cytoplasmic antibody-associated vasculitis) were identified. Among them, 1 patient had no rare variants in the coding region of ADA2 and 8 had biallelic, rare variants (minor allele frequency <0.01) with a known association with DADA2 (p.Gly47Arg and p.Gly47Ala) or a novel association (p.Arg9Trp, p.Leu351Gln, and p.Ala357Thr). The clinical phenotype varied widely. CONCLUSION: These findings support previous observations indicating that DADA2 has extensive genotypic and phenotypic variability. Thus, screening ADA2 among children with vasculitic rash, UCV, PAN, or unexplained, early-onset central nervous system disease with systemic inflammation may enable an earlier diagnosis of DADA2.

12.
Neuropsychology ; 33(4): 462-469, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30762375

RESUMO

OBJECTIVE: To characterize the clinical cognitive phenotypes and severity of cognitive burden according to disease subtype in children with primary central nervous system vasculitis (cPACNS). METHOD: This retrospective multicenter inflammatory brain disease database study examined the neuropsychological outcomes of 80 children (44 male; mean age = 7.89 years, SD = 4.17) consecutively diagnosed with primary CNS vasculitis between 1992 and 2016. Twenty-one children had small-vessel disease (AN_cPACNS), and 59 had large-vessel disease (including 49 nonprogressive [APNP_cPACNS] and 10 progressive [APP_cPACNS]). Neuroimaging revealed MRI abnormalities in 100% and 90% of children with large- and small-vessel vasculitis, respectively. The primary outcomes were Full Scale IQ (FSIQ) and the index scores from the Wechsler Intelligence Scale for Children-III (WISC-III, WISC-IV, and WISC-V). Analyses explored the effect of disease subtype. RESULTS: Intellectual functioning was assessed on average 2.82 years after symptom onset. Children with small-vessel CNS vasculitis had significantly lower FSIQ scores than did those with large-vessel CNS vasculitis (Ms = 81.90 vs. 94.82; p = .04). Intellectual disability (FSIQ < 70) was more frequent in children with small-vessel disease (24% vs. 5%). All groups displayed lower Working Memory and Processing Speed index scores relative to Verbal Comprehension and Perceptual Reasoning index scores. Group differences in FSIQ remained significant after controlling for the presence of seizures. CONCLUSION: Children with small-vessel CNS vasculitis are more likely to demonstrate deficits in intellectual functioning than are those with large-vessel disease, and children with both types of CNS vasculitis demonstrate relatively poor working memory and processing speed. (PsycINFO Database Record (c) 2019 APA, all rights reserved).


Assuntos
Cognição/fisiologia , Deficiência Intelectual/etiologia , Inteligência/fisiologia , Memória de Curto Prazo/fisiologia , Vasculite do Sistema Nervoso Central/complicações , Criança , Pré-Escolar , Feminino , Humanos , Deficiência Intelectual/psicologia , Masculino , Estudos Retrospectivos , Vasculite do Sistema Nervoso Central/psicologia , Escalas de Wechsler
13.
J Rheumatol ; 46(6): 628-635, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30647178

RESUMO

OBJECTIVE: To estimate the probability of early remission with conventional treatment for each child with juvenile idiopathic arthritis (JIA). Children with a low chance of remission may be candidates for initial treatment with biologics or triple disease-modifying antirheumatic drugs (DMARD). METHODS: We used data from 1074 subjects in the Research in Arthritis in Canadian Children emphasizing Outcomes (ReACCh-Out) cohort. The predicted outcome was clinically inactive disease for ≥ 6 months starting within 1 year of JIA diagnosis in patients who did not receive early biologic agents or triple DMARD. Models were developed in 200 random splits of 75% of the cohort and tested on the remaining 25% of subjects, calculating expected and observed frequencies of remission and c-index values. RESULTS: Our best Cox logistic model combining 18 clinical variables a median of 2 days after diagnosis had a c-index of 0.69 (95% CI 0.67-0.71), better than using JIA category alone (0.59, 95% CI 0.56-0.63). Children in the lowest probability decile had a 20% chance of remission and 21% attained remission; children in the highest decile had a 69% chance of remission and 73% attained remission. Compared to 5% of subjects identified by JIA category alone, the model identified 14% of subjects as low chance of remission (probability < 0.25), of whom 77% failed to attain remission. CONCLUSION: Although the model did not meet our a priori performance threshold (c-index > 0.70), it identified 3 times more subjects with low chance of remission than did JIA category alone, and it may serve as a benchmark for assessing value added by future laboratory/imaging biomarkers.

14.
J Clin Rheumatol ; 25(4): 171-175, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29782425

RESUMO

BACKGROUND/OBJECTIVE: Takayasu arteritis (TA) is characterized by extensive aortic, large and midsize arterial wall inflammation. The aim of this study was to assess the morphological and elastic properties of the aorta and large arteries and the impact on left ventricular (LV) mechanics in children with TA. METHODS: Seven pediatric TA patients (6 female patients, 13.8 ± 3.2 years) were assessed with magnetic resonance imaging, vascular ultrasound, applanation tonometry, and echocardiography from February 2015 until July 2017 and compared with 7 age- and sex-matched controls. Takayasu arteritis disease activity was assessed clinically by the Pediatric Vasculitis Activity Score (PVAS). RESULTS: Pediatric TA patients showed increased carotid-to-radial artery pulse wave velocity (8.1 ± 1.8 vs. 6.4 ± 0.6 m/s, p = 0.03) and increased carotid-to-femoral artery pulse wave velocity (8.3 ± 1.9 vs. 5.1 ± 0.8 m/s, p < 0.01) when compared with controls. Patients demonstrated increased LV mass index (74.3 ± 18.8 vs. 56.3 ± 10.9 g/m, p = 0.04), altered myocardial deformation with increased basal rotation (-9.8 ± 4.5 vs. -4.0 ± 2.0 degrees, p = 0.01) and torsion (19.9 ± 8.1 vs. 9.1 ± 3.1 degrees, p = 0.01), and impaired LV diastolic function with decreased mitral valve E/A ratio (1.45 ± 0.17 vs. 2.40 ± 0.84, p = 0.01), increased mitral valve E/E' ratio (6.8 ± 1.4 vs. 4.9 ± 0.7, p < 0.01), and increased pulmonary vein A-wave velocity (26.7 ± 5.7 vs. 16.8 ± 3.3 cm/s, p = 0.03). Carotid-to-radial artery pulse wave velocity was associated with systolic (R = 0.94, p < 0.01), diastolic (R = 0.85, p = 0.02), and mean blood pressure (R = 0.91, p < 0.01), as well as disease activity by PVAS (R = 0.75, p = 0.05). The PVAS was associated with carotid-to-radial artery pulse wave velocity (R = 0.75, p = 0.05), as well as systolic (R = 0.84, p = 0.02), diastolic (R = 0.82, p = 0.03), and mean blood pressure (R = 0.84, p = 0.02). CONCLUSIONS: Increased arterial stiffness is present in pediatric TA patients and associated with increased blood pressure and TA disease activity. Pediatric TA patients demonstrate altered LV mechanics, LV hypertrophy, and impaired diastolic function.


Assuntos
Aorta , Artérias , Arterite de Takayasu , Rigidez Vascular/fisiologia , Disfunção Ventricular Esquerda , Adolescente , Aorta/diagnóstico por imagem , Aorta/fisiopatologia , Artérias/diagnóstico por imagem , Artérias/fisiopatologia , Canadá , Criança , Correlação de Dados , Ecocardiografia/métodos , Técnicas de Imagem por Elasticidade/métodos , Feminino , Humanos , Masculino , Manometria/métodos , Gravidade do Paciente , Análise de Onda de Pulso/métodos , Arterite de Takayasu/diagnóstico , Arterite de Takayasu/fisiopatologia , Disfunção Ventricular Esquerda/etiologia , Disfunção Ventricular Esquerda/patologia , Disfunção Ventricular Esquerda/fisiopatologia
15.
Clin Exp Rheumatol ; 37(3): 385-392, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30183602

RESUMO

OBJECTIVES: To develop a web-based tool (Rheum4U) to capture clinically meaningful data to direct treatment. Rheum4U integrates longitudinal clinical data capture of rheumatoid arthritis (RA) disease activity measures and patient-reported outcomes measures (PROMs). This study tests the feasibility, acceptability and efficiency of Rheum4U among patients and healthcare providers. METHODS: Rheum4U was developed in two phases: P1 design and development; and P2 pilot testing. P1: A working group of rheumatologists and researchers (n=13) performed a prioritisation exercise to determine data elements to be included in the platform. The specifications were finalised and supplied to the platform developer. Alpha testing was performed to correct initial software bugs. 18 testers (physicians, nurses and recruited non-patient lay-testers) beta tested Rheum4U for usability. P2: Rheum4U was piloted in 2 rheumatology clinics and evaluated for feasibility, efficiency and acceptability using interviews, observation and questionnaires with patients and healthcare providers. RESULTS: 110 RA patients, 9 rheumatologists and 9 allied health providers participated in the pilot. Mean patient age was 53 years and 74% were female. The majority (86%) were satisfied or very satisfied with online data entry and 79% preferred it to paper entry. Healthcare providers found Rheum4U easy and clear to use (90%), and they perceived that it improved their job performance (91%). Completeness and easy availability of the patient information improved clinic efficiency. CONCLUSIONS: Rheum4U highlights the benefits of a web-based tool for clinical care, quality improvement and research in the clinic and this study provides valuable information to inform full platform implementation.


Assuntos
Artrite Reumatoide , Assistência à Saúde/métodos , Internet , Medidas de Resultados Relatados pelo Paciente , Artrite Reumatoide/terapia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade da Assistência à Saúde , Inquéritos e Questionários
16.
Arthritis Rheumatol ; 71(2): 315-323, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30101446

RESUMO

OBJECTIVE: To compare the clinical features, efficacy and safety of treatment regimens, and outcomes of childhood- and adult-onset Takayasu arteritis (TAK). METHODS: The study was designed as a retrospective cohort study comparing patients with childhood-onset TAK (from 1986 onward) to patients with adult-onset TAK (from 1988 onward) who were followed up until 2014 or 2015 at 4 centers in Ontario, Canada. Demographic, clinical, laboratory, and angiographic features, treatment regimens, and outcomes were recorded throughout the course of the disease. Disease activity and damage scores were completed retrospectively. RESULTS: Twenty-nine children and 48 adults (median age at diagnosis 12.1 years and 31.2 years, respectively) were included. A lower predominance of females was observed among the childhood-onset TAK cohort (76% versus 100% of patients with adult-onset TAK; P < 0.01), and children had a shorter delay to diagnosis (median 6.0 months versus 12.2 months for adults; P = 0.03). The distribution of vascular involvement was also different, with children having significantly more aortic and renal artery involvement and a higher frequency of arterial hypertension. Relapses in the first year after diagnosis were common both in children (39%) and in adults (28%). Two children, but no adults, died. CONCLUSION: Childhood-onset TAK has a lower female predominance and a higher frequency of aortic and renal involvement compared to adult-onset TAK. Relapses and disease burden were high in both groups, corroborating the need for careful monitoring of disease activity and aggressive therapeutic management.


Assuntos
Arterite de Takayasu/fisiopatologia , Adolescente , Adulto , Idade de Início , Aortite/etiologia , Criança , Estudos de Coortes , Diagnóstico Tardio , Progressão da Doença , Feminino , Seguimentos , Humanos , Hipertensão/etiologia , Imunossupressores/uso terapêutico , Masculino , Ontário , Recidiva , Artéria Renal , Estudos Retrospectivos , Distribuição por Sexo , Arterite de Takayasu/complicações , Arterite de Takayasu/diagnóstico , Arterite de Takayasu/tratamento farmacológico
18.
Pediatr Rheumatol Online J ; 16(1): 81, 2018 Dec 20.
Artigo em Inglês | MEDLINE | ID: mdl-30572912

RESUMO

BACKGROUND: Autoinflammatory diseases (AIDs) illnesses of the innate immunity resulting in clinical signs and symptoms of systemic inflammation and loss of organ functions. While pathophysiological mechanisms are heavily studied and increasingly well understood, psychosocial needs are much less explored. The disease impact on the everyday life of patients including school and work is poorly studied. The purpose of the study was to identify the spectrum of unmet needs of children, adolescents and adults living with autoinflammatory disease and their families, to define key unmet needs and strategies and to develop and evaluate a pilot intervention addressing the unmet need "school". METHODS: A single-center, mixed-method study of AID patients and their families was conducted. Consecutive patients ages ≥4 years and their families were included. Expert consulting, focus groups and questionnaires explored the patient perspective of "unmet needs in AID". Quantitative and qualitative content analyses were performed and informed the development of a framework of unmet needs. A targeted pilot multimodular intervention for the unmet need "school" was developed and tested. Health-related Quality of Life (HRQoL) was evaluated using DISABKIDS-questionnaires and psychosocial impact evaluations. RESULTS: The study included 83 patients and their families. These were 14 children, 9 adolescents and 25 adults with AID and 35 family members; patients' median age was 19 years (5-78). Expert consultations: 110 AID patients with 320 visits/year; 99 (90%) were children and adolescents. 78 patients and family members (94%) participated in 10 groups. Qualitative content analysis delineated 9 domains of unmet needs, the most relevant being school, health care system and public institutions. The pilot intervention"school" included 18 participants; median age was 9 years (7-16). HRQoL improved with the intervention including "understanding" by 53%, however improvement was not sustained over time. CONCLUSION: Unmet needs of AID patients and families affect all areas of life. Accessible networks increasing knowledge and empowering patients, strategies supporting academic and workplace environments to ensure successful participation and integrated concepts addressing psychosocial needs are urgently needed.


Assuntos
Família/psicologia , Necessidades e Demandas de Serviços de Saúde/estatística & dados numéricos , Doenças Hereditárias Autoinflamatórias/psicologia , Qualidade de Vida/psicologia , Apoio Social , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Grupos Focais , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Inquéritos e Questionários , Adulto Jovem
19.
Front Pediatr ; 6: 341, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30533405

RESUMO

Objectives: Chronic primary systemic vasculitidies (CPV) are a collection of rare diseases involving inflammation in blood vessels, often in multiple organs. CPV can affect adults and children and may be life- or organ-threatening. Treatments for adult CPV, although effective, have known severe potential toxicities; safety and efficacy of these drugs in pediatric patients is not fully understood. There is an unmet need for biologic measures to assess the level of disease activity and, in turn, inform treatment choices for stopping, starting, or modifying therapy. This observational study determines if S100 calcium-binding protein A12 (S100A12) and common inflammatory indicators are sensitive markers of disease activity in children and adolescents with CPV that could be used to inform a minimal effective dose of therapy. Methods: Clinical data and sera were collected from 56 participants with CPV at study visits from diagnosis to remission. Serum concentrations of S100A12, C-reactive protein (CRP) and hemoglobin (Hb) as well as whole blood cell counts and erythrocyte sedimentation rate (ESR) were measured. Disease activity was inferred by physician's global assessment (PGA) and the pediatric vasculitis activity score (PVAS). Results: Serum concentrations of standard markers of inflammation (ESR, CRP, Hb, absolute blood neutrophil count), and S100A12 track with clinically assessed disease activity. These measures-particularly neutrophil counts and sera concentrations of S100A12-had the most significant correlation with clinical scores of disease activity in those children with vasculitis that is associated with anti-neutrophil cytoplasmic antibodies (ANCA) against proteinase 3. Conclusions: S100A12 and neutrophil counts should be considered in the assessment of disease activity in children with CPV particularly the most common forms of the disease that involve proteinase 3 ANCA. Key messages: - In children with chronic primary systemic vasculitis (CPV), classical measures of inflammation are not formally considered in scoring of disease activity. - Inflammatory markers-specifically S100A12 and neutrophil count-track preferentially with the most common forms of childhood CPV which affect small to medium sized vessels and involve anti neutrophil cytoplasmic antibodies (ANCA) against proteinase-3.

20.
Pediatr Rheumatol Online J ; 16(1): 73, 2018 Nov 20.
Artigo em Inglês | MEDLINE | ID: mdl-30458827

RESUMO

OBJECTIVE: To quantify the impact of inflammatory brain diseases in the pediatric population on health-related quality of life, including the subdomains of physical, emotional, school and social functioning. METHODS: This was a multicenter, observational cohort study of children (< 18 years of age) diagnosed with inflammatory brain disease (IBrainD). Patients were included if they had completed at least one Health Related Quality of Life Questionnaire (HRQoL). HRQoL was measured using the Pediatric Quality of Life Inventory Version 4.0 (PedsQL) Generic Core Scales, which provided a total score out of 100. Analyses of trends were performed using linear regression models adjusted for repeated measures over time. RESULTS: In this study, 145 patients were included of which 80 (55%) were females. Cognitive dysfunction was the most common presenting symptoms (63%), and small vessel childhood primary angiitis of the CNS was the most common diagnosis (33%). The mean child's self-reported PedsQL total score at diagnosis was 68.4, and the mean parent's proxy-reported PedsQL score was 63.4 at diagnosis. Child's self-reported PedsQL scores reflected poor HRQoL in 52.9% of patients at diagnosis. Seizures or cognitive dysfunction at presentation was associated with statistically significant deficits in HRQoL. CONCLUSION: Pediatric IBrainD is associated with significantly diminished health-related quality of life. Future research should elucidate why these deficits occur and interventions should focus on improving HRQoL in the most affected subdomains, in particular for children presenting with seizures and cognitive dysfunction.


Assuntos
Encefalopatias/diagnóstico , Qualidade de Vida , Adolescente , Encefalopatias/psicologia , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Masculino , Pais/psicologia , Psicometria/métodos , Fatores de Risco , Inquéritos e Questionários
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