Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 102
Filtrar
1.
Arthritis Res Ther ; 21(1): 270, 2019 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-31806043

RESUMO

BACKGROUND: Models to predict disease course and long-term outcome based on clinical characteristics at disease onset may guide early treatment strategies in juvenile idiopathic arthritis (JIA). Before a prediction model can be recommended for use in clinical practice, it needs to be validated in a different cohort than the one used for building the model. The aim of the current study was to validate the predictive performance of the Canadian prediction model developed by Guzman et al. and the Nordic model derived from Rypdal et al. to predict severe disease course and non-achievement of remission in Nordic patients with JIA. METHODS: The Canadian and Nordic multivariable logistic regression models were evaluated in the Nordic JIA cohort for prediction of non-achievement of remission, and the data-driven outcome denoted severe disease course. A total of 440 patients in the Nordic cohort with a baseline visit and an 8-year visit were included. The Canadian prediction model was first externally validated exactly as published. Both the Nordic and Canadian models were subsequently evaluated with repeated fine-tuning of model coefficients in training sets and testing in disjoint validation sets. The predictive performances of the models were assessed with receiver operating characteristic curves and C-indices. A model with a C-index above 0.7 was considered useful for clinical prediction. RESULTS: The Canadian prediction model had excellent predictive ability and was comparable in performance to the Nordic model in predicting severe disease course in the Nordic JIA cohort. The Canadian model yielded a C-index of 0.85 (IQR 0.83-0.87) for prediction of severe disease course and a C-index of 0.66 (0.63-0.68) for prediction of non-achievement of remission when applied directly. The median C-indices after fine-tuning were 0.85 (0.80-0.89) and 0.69 (0.65-0.73), respectively. Internal validation of the Nordic model for prediction of severe disease course resulted in a median C-index of 0.90 (0.86-0.92). CONCLUSIONS: External validation of the Canadian model and internal validation of the Nordic model with severe disease course as outcome confirm their predictive abilities. Our findings suggest that predicting long-term remission is more challenging than predicting severe disease course.

2.
Lakartidningen ; 1162019 Oct 29.
Artigo em Sueco | MEDLINE | ID: mdl-31661147

RESUMO

Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) syndrome is the most common autoinflammatory disorder among children in many parts of the world and an important differential diagnosis in children presenting with recurrent fever episodes. Commonly, PFAPA has an onset under the age of 5 years. Fever episodes in PFAPA usually last 3-6 days and are associated with one or more of the cardinal symptoms aphthous stomatitis, pharyngitis and cervical adenitis. The fever episodes typically recur with an interval of 3-6 weeks, often with a striking regularity. During the episodes, the patient has elevated inflammatory variables such as CRP and serum amyloid A (SAA) and may sometimes have additional symptoms such as abdominal pain, nausea and leg pain. Between the fever episodes, the patient is typically free of symptoms with normalized inflammatory variables and grows normally. Awareness and recognition of PFAPA is key to providing the patient with adequate treatment and avoiding misdiagnosis.


Assuntos
Doenças Hereditárias Autoinflamatórias/diagnóstico , Biomarcadores/sangue , Pré-Escolar , Diagnóstico Diferencial , Feminino , Febre/diagnóstico , Febre/tratamento farmacológico , Febre/etiologia , Doenças Hereditárias Autoinflamatórias/classificação , Doenças Hereditárias Autoinflamatórias/complicações , Doenças Hereditárias Autoinflamatórias/tratamento farmacológico , Humanos , Inflamação/sangue , Linfadenite/diagnóstico , Linfadenite/tratamento farmacológico , Linfadenite/etiologia , Masculino , Faringite/diagnóstico , Faringite/tratamento farmacológico , Faringite/etiologia , Estomatite Aftosa/diagnóstico , Estomatite Aftosa/tratamento farmacológico , Estomatite Aftosa/etiologia , Síndrome
3.
J Rheumatol ; 2019 09 15.
Artigo em Inglês | MEDLINE | ID: mdl-31523047

RESUMO

OBJECTIVE: To determine the prevalence of orofacial symptoms, dysfunctions, and deformities of the temporomandibular joint (TMJ) in juvenile idiopathic arthritis (JIA) 17 years after disease onset. METHODS: Drawn from a prospective, population-based Nordic JIA cohort with disease onset from 1997-2000, 420 consecutive cases were eligible for orofacial evaluation of TMJ involvement. The follow-up visit included demographic data, a standardized clinical orofacial examination, and fullface cone-beam computed tomography (CBCT). For comparison, 200 age-matched healthy controls were used. RESULTS: Of 420 eligible participants with JIA, 265 (63%) were included (mean age 23.5 ± 4.2 years) and completed a standardized clinical orofacial examination. Of these, 245 had a full-face CBCT performed. At least one orofacial symptom was reported by 33%. Compared to controls, the JIA group significantly more often reported TMJ pain, TMJ morning stiffness, and limitation on chewing. Furthermore, among participants reporting complaints, the number of symptoms was also higher in the JIA. The mean maximal incisal opening was lower in the JIA group (p<0.001), and TMJ pain on palpation was more frequent. Condylar deformities and/or erosions were observed in 61% as assessed by CBCT, showing bilateral changes in about 70%. Risk factors of condylar deformities were orofacial dysfunction or biologic treatment; enthesitis-related arthritis was protective. CONCLUSION: This first study on long-term consequences of TMJ involvement in a population-based JIA cohort reports persistence of comprehensive symptoms, dysfunctions, and damage of the TMJ into adulthood. We suggest interdisciplinary follow-up of JIA patients also in adulthood.

4.
Pediatr Rheumatol Online J ; 17(1): 63, 2019 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-31500626

RESUMO

BACKGROUND: To determine the serum levels of the lectin pathway proteins early in the disease course and 17 years after disease onset and to correlate the protein levels to markers of disease activity in participants from a population-based Nordic juvenile idiopathic arthritis (JIA) cohort. Additionally, to assess the predictive value of lectin pathway proteins with respect to remission status. METHODS: A population-based cohort study of consecutive cases of JIA with a disease onset from 1997 to 2000 from defined geographical areas of Finland, Sweden, Norway and Denmark with 17 years of follow-up was performed. Clinical characteristics were registered and H-ficolin, M-ficolin, MASP-1, MASP-3, MBL and CL-K1 levels in serum were analyzed. RESULTS: In total, 293 patients with JIA were included (mean age 23.7 ± 4.4 years; mean follow-up 17.2 ± 1.7 years). Concentrations of the lectin protein levels in serum were higher at baseline compared to the levels 17 years after disease onset (p ≤ 0.006, n = 164). At baseline, the highest level of M-ficolin was observed in systemic JIA. Further, high M-ficolin levels at baseline and at 17-year follow-up were correlated to high levels of ESR. In contrast, high MASP-1 and MASP-3 tended to correlate to low ESR. CL-K1 showed a negative correlation to JADAS71 at baseline. None of the protein levels had prognostic abilities for remission status 17 years after disease onset. CONCLUSION: We hypothesize that increased serum M-ficolin levels are associated with higher disease activity in JIA and further, the results indicate that MASP-1, MASP-3 and CL-K1 are markers of inflammation.

5.
Pediatr Rheumatol Online J ; 17(1): 44, 2019 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-31307487

RESUMO

BACKGROUND: The aim of the study was to describe school attendance and participation in physical education in school among children with juvenile idiopathic arthritis (JIA). METHODS: Consecutive cases of JIA from defined geographical areas of Finland, Sweden and Norway with disease onset in 1997 to 2000 were followed for 8 years in a multi-center cohort study, aimed to be as close to population-based as possible. Clinical characteristics and information on school attendance and participation in physical education (PE) were registered. RESULTS: Participation in school and in PE was lowest initially and increased during the disease course. Eight years after disease onset 228/274 (83.2%) of the children reported no school absence due to JIA, while 16.8% reported absence during the last 2 months due to JIA. Full participation in PE was reported by 194/242 (80.2%), partly by 16.9%, and none by 2.9%. Lowest participation in PE was found among children with ERA and the undifferentiated categories. Absence in school and PE was associated with higher disease activity measures at the 8-year visit. School absence > 1 day at baseline predicted use of disease-modifying anti-rheumatic drugs, including biologics (DMARDs) (OR 1.2 (1.1-1.5)), and non-remission off medication (OR 1.4 (1.1-1.7) 8 years after disease onset. CONCLUSION: School absence at baseline predicted adverse long-term outcome. In children and adolescents with JIA participation in school activities is mostly high after 8 years of disease. For the minority with low participation, special attention is warranted to promote their full potential of social interaction and improve long-term outcome.


Assuntos
Absenteísmo , Artrite Juvenil/fisiopatologia , Educação Física e Treinamento , Instituições Acadêmicas , Adolescente , Antirreumáticos/uso terapêutico , Artrite Juvenil/tratamento farmacológico , Criança , Estudos de Coortes , Feminino , Finlândia , Humanos , Estudos Longitudinais , Masculino , Noruega , Suécia
6.
Acta Paediatr ; 108(12): 2175-2185, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31278775

RESUMO

Severe primary paediatric immunodeficiency syndromes are rare and potentially fatal unless suspected, diagnosed and treated early. We provide clinical guidance and support for on-call consultant paediatricians working in secondary level hospitals on how to recognise and manage children with these conditions. Our paper addresses four conditions that risk the most severe outcomes if they are not adequately cared for during on-call periods, such as weekends: severe combined immunodeficiency, haemophagocytic lymphohistiocytosis, severe congenital neutropaenia and chronic granulomatous disease. CONCLUSION: On-call paediatricians are provided with advice on handling the most severe primary immunodeficiencies.

7.
Arch Dis Child Educ Pract Ed ; 104(5): 235-243, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30733240

RESUMO

Children with primary immunodeficiency syndromes present with broad variation of clinical features and the consequences are often severe if not promptly recognised. Here, support is provided for the general paediatrician to recognise primary immunodeficiencies among the many children they meet in their clinical practice.

8.
Lancet Child Adolesc Health ; 3(3): 175-180, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30704875

RESUMO

BACKGROUND: Paediatric acute-onset neuropsychiatric syndrome (PANS) is a newly defined symptom-based condition that mainly occurs in children and adolescents. Few studies have described the clinical characteristics of the syndrome. METHODS: We clinically assessed and reviewed the medical histories of children and adolescents (aged 4-14 years) with suspected PANS who were referred to a specialist clinic in Gothenburg, Sweden, by local paediatricians and child psychiatrists. We scored severity of symptoms and impairment retrospectively for the timepoint with the most severe symptoms using the PANS scale. FINDINGS: Of 41 patients (37 referred and four visited upon parents' request), 23 (ten girls and 13 boys) met PANS diagnostic criteria. Mean age at PANS onset was 8·5 years (SD 3·37). 11 (48%) patients had a family history of developmental or neuropsychiatric disorders in a first-degree relative and 11 (48%) had a family history of autoimmune or inflammatory diseases in a first-degree relative. 17 (74%) patients had been previously diagnosed with a developmental disorder (n=5) or had symptoms indicative of developmental problems (n=12). A verified or suspected infection was temporally related to PANS onset in all patients; the infection was bacterial in ten (43%) patients (eight had streptococcal infection and two an infection caused by other bacteria) and viral in 13 (57%) patients. All patients had a relapsing-remitting course of illness. The mean PANS scale symptom score was 46 (SD 3·67) and the mean impairment score was 45 (2·74). Antibiotic treatment was reported as beneficial by the parents of 12 (63%) of the 19 children who received antibiotics. INTERPRETATION: Our PANS cohort had severe, acute-onset, complex neuropsychiatric symptoms, a relapsing-remitting symptom course, and possible infectious triggers. Further research into the cause of, and appropriate treatment for, PANS is warranted. FUNDING: Swedish Brain Foundation.

9.
Artigo em Inglês | MEDLINE | ID: mdl-30762291

RESUMO

OBJECTIVES: This study assessed the long-term course, remission rate and disease burden in juvenile idiopathic arthritis (JIA) 18 years after disease onset in a population-based setting from the early biologic era. METHODS: A total of 510 consecutive cases of JIA with disease onset between 1997 and 2000 from defined geographic regions in Denmark, Norway, Sweden and Finland were prospectively included in this 18-year cohort study. At the follow-up visit, patient-reported, demographic and clinical data were collected. RESULTS: The study included 434 (85%) of the 510 eligible JIA participants. The mean age ± SD was 24.0 ± 4.4 years. The median juvenile arthritis disease activity (JADAS71) score was 1.5 (IQR 0-5), with the ERA category of JIA having the highest median score, 4.5 (IQR 1.5-8.5) (P=0.003). In this cohort, 46% still had active disease, and 66 (15%) were treated with synthetic disease-modifying anti-rheumatic drugs and 84 (19%) with biologics. Inactive disease indicated by JADAS71 <1 was seen in 48% of participants. Clinical remission off medication (CR) was documented in 33% of the participants with high variability among the JIA categories. CR was most often seen in persistent oligoarticular and systemic arthritis and least often in ERA (P<0.001). CONCLUSIONS: A high prevalence of the JIA cohort did not achieve CR despite new treatment options during the study period. The ERA category showed the worst outcomes and, in general, there is still a high burden of disease in adulthood for JIA. This article is protected by copyright. All rights reserved.

10.
J Allergy Clin Immunol ; 143(6): 2238-2253, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30660643

RESUMO

BACKGROUND: CD40 ligand (CD40L) deficiency, an X-linked primary immunodeficiency, causes recurrent sinopulmonary, Pneumocystis and Cryptosporidium species infections. Long-term survival with supportive therapy is poor. Currently, the only curative treatment is hematopoietic stem cell transplantation (HSCT). OBJECTIVE: We performed an international collaborative study to improve patients' management, aiming to individualize risk factors and determine optimal HSCT characteristics. METHODS: We retrospectively collected data on 130 patients who underwent HSCT for CD40L deficiency between 1993-2015. We analyzed outcome and variables' relevance with respect to survival and cure. RESULTS: Overall survival (OS), event-free survival (EFS), and disease-free survival (DFS) were 78.2%, 58.1%, and 72.3% 5 years after HSCT. Results were better in transplantations performed in 2000 or later and in children less than 10 years old at the time of HSCT. Pre-existing organ damage negatively influenced outcome. Sclerosing cholangitis was the most important risk factor. After 2000, superior OS was achieved with matched donors. Use of myeloablative regimens and HSCT at 2 years or less from diagnosis associated with higher OS and DFS. EFS was best with matched sibling donors, myeloablative conditioning (MAC), and bone marrow-derived stem cells. Most rejections occurred after reduced-intensity or nonmyeloablative conditioning, which associated with poor donor cell engraftment. Mortality occurred mainly early after HSCT, predominantly from infections. Among survivors who ceased immunoglobulin replacement, T-lymphocyte chimerism was 50% or greater donor in 85.2%. CONCLUSION: HSCT is curative in patients with CD40L deficiency, with improved outcome if performed before organ damage development. MAC is associated with better OS, EFS, and DFS. Prospective studies are required to compare the risks of HSCT with those of lifelong supportive therapy.

11.
Arthritis Care Res (Hoboken) ; 71(7): 961-969, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30055093

RESUMO

OBJECTIVE: To study self-reported pain early in the disease course of juvenile idiopathic arthritis (JIA) as a predictor of long-term disease outcomes. METHODS: Consecutive cases of JIA with disease onset from 1997 to 2000 from defined geographical areas of Norway, Sweden, Finland, and Denmark were prospectively enrolled in this population-based cohort study. Self-reported, disease-related pain was measured on a 10-cm visual analog scale (VAS pain). Inclusion criteria were a baseline visit with a pain score 6 months after disease onset, followed by an 8-year study visit. Remission was defined according to Wallace et al (2004) preliminary criteria. Functional disability was measured by the Childhood Health Assessment Questionnaire and the Child Health Questionnaire Parent Form if the child was age <18 years and by the Health Assessment Questionnaire if age ≥18 years. Damage was scored using the Juvenile Arthritis Damage Index. RESULTS: The final study cohort consisted of 243 participants, and 120 participants (49%) had oligoarticular onset. At baseline, 76% reported a VAS pain score >0 compared to 57% reporting at 8 years. Half of those who reported baseline pain also reported pain at 8 years but at a lower intensity. Compared to no pain, higher pain intensity at baseline predicted more pain at 8 years, more functional disability, more damage, and less remission without medication. Baseline pain predicted more use of disease-modifying antirheumatic drugs/biologics during the disease course. Participants with oligoarticular JIA reporting pain at baseline were more likely to develop extended oligoarticular JIA or other JIA categories with an unfavorable prognosis. CONCLUSION: Early self-reported, disease-related pain among children and adolescents with JIA is common and seems to predict persistent pain and unfavorable long-term disease outcomes.

12.
J Clin Immunol ; 38(8): 917-926, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30470982

RESUMO

The results of hematopoietic stem cell transplant (HSCT) for primary immunodeficiency diseases (PID) have been improving over time. Unfortunately, developing countries do not experience the same results. This first report of Brazilian experience of HSCT for PID describes the development and results in the field. We included data from transplants in 221 patients, performed at 11 centers which participated in the Brazilian collaborative group, from July 1990 to December 2015. The majority of transplants were concentrated in one center (n = 123). The median age at HSCT was 22 months, and the most common diseases were severe combined immunodeficiency (SCID) (n = 67) and Wiskott-Aldrich syndrome (WAS) (n = 67). Only 15 patients received unconditioned transplants. Cumulative incidence of GVHD grades II to IV was 23%, and GVHD grades III to IV was 10%. The 5-year overall survival was 71.6%. WAS patients had better survival compared to other diseases. Most deaths (n = 53) occurred in the first year after transplantation mainly due to infection (55%) and GVHD (13%). Although transplant for PID patients in Brazil has evolved since its beginning, we still face some challenges like delayed diagnosis and referral, severe infections before transplant, a limited number of transplant centers with expertise, and resources for more advanced techniques. Measures like newborn screening for SCID may hasten the diagnosis and ameliorate patients' conditions at the moment of transplant.


Assuntos
Doença Enxerto-Hospedeiro/epidemiologia , Transplante de Células-Tronco Hematopoéticas , Síndromes de Imunodeficiência/terapia , Doenças Raras/terapia , Brasil/epidemiologia , Diagnóstico Tardio , Países em Desenvolvimento , Feminino , Doença Enxerto-Hospedeiro/mortalidade , Humanos , Síndromes de Imunodeficiência/epidemiologia , Síndromes de Imunodeficiência/mortalidade , Lactente , Recém-Nascido , Masculino , Triagem Neonatal , Doenças Raras/epidemiologia , Doenças Raras/mortalidade , Análise de Sobrevida
13.
BMC Pediatr ; 18(1): 285, 2018 08 29.
Artigo em Inglês | MEDLINE | ID: mdl-30157810

RESUMO

BACKGROUND: A novel immunodeficiency, frequently accompanied by high serum-IgE, and caused by mutations in the PGM3 gene was described in 2014. To date there are no unique phenotype characteristics for PGM3 deficiency. PGM3 encodes a carbohydrate-modifying enzyme, phosphoglucomutase 3. Null-mutations are quite likely lethal, and to date only missense mutations or small deletions have been reported. Such mutations frequently cause a combination of reduced enzyme activity and protein instability, complicating determination of the enzyme level needed for survival. Here we present the first patient with a homozygous splice-modifying mutation in the PGM3 gene. An A > G substitution at position c.871 + 3 (transcript NM_001199917) is causing a deletion of exon 7 in the majority of PGM3 transcripts. In addition, this case further increases the clinical phenotypes of immunodeficiency caused by PGM3 mutations. CASE PRESENTATION: We describe the symptoms of a 3-year-old girl who was severely growth retarded, had vascular malformations, extensive eczema, multiple food-allergies, and was prone to infections. Unlike the majority of reported PGM3 deficient patients she lacked skeletal dysplasia and had normal neurocognitive development. In addition to the high serum-IgE, she displayed altered T cell numbers with reduced naïve CD4+ and CD8+ T-cells, increased number of activated effector memory CD8+ T cells and aberrant T-cell functions. The patient was homozygous for a new hypomorphic, splice-modifying mutation in the PGM3 gene, causing severely reduced mRNA levels. In the patient's cells, we observed 5% intact mRNA and approximately 11% of the protein levels seen in healthy controls. Treatment with allogeneic hematopoietic stem cell therapy was planned, but unfortunately the clinical condition deteriorated with multi-organ failure, which led to her death at 3 years of age. CONCLUSIONS: There is still no specific phenotype identified that distinguishes immunodeficiency caused by PGM3 mutations from other forms of immunodeficiency. The patient described here yields new information on the phenotypic variability among these patients. In addition, since all the synthesized protein is wild-type, it is possible for the first time to estimate the enzyme activity in vivo. The results suggest that1/10 of the normal PGM3 level is sufficient for survival but that it is insufficient for accurate carbohydrate processing.


Assuntos
Síndromes de Imunodeficiência/genética , Mutação , Fosfoglucomutase/genética , Sítios de Splice de RNA/genética , Pré-Escolar , Evolução Fatal , Feminino , Homozigoto , Humanos , Fosfoglucomutase/metabolismo , RNA Mensageiro/metabolismo
14.
Arthritis Res Ther ; 20(1): 91, 2018 05 03.
Artigo em Inglês | MEDLINE | ID: mdl-29724248

RESUMO

BACKGROUND: The aim was to develop prediction rules that may guide early treatment decisions based on baseline clinical predictors of long-term unfavorable outcome in juvenile idiopathic arthritis (JIA). METHODS: In the Nordic JIA cohort, we assessed baseline disease characteristics as predictors of the following outcomes 8 years after disease onset. Non-achievement of remission off medication according to the preliminary Wallace criteria, functional disability assessed by Childhood Health Assessment Questionnaire (CHAQ) and Physical Summary Score (PhS) of the Child Health Questionnaire, and articular damage assessed by the Juvenile Arthritis Damage Index-Articular (JADI-A). Multivariable models were constructed, and cross-validations were performed by repeated partitioning of the cohort into training sets for developing prediction models and validation sets to test predictive ability. RESULTS: The total cohort constituted 423 children. Remission status was available in 410 children: 244 (59.5%) of these did not achieve remission off medication at the final study visit. Functional disability was present in 111/340 (32.7%) children assessed by CHAQ and 40/199 (20.1%) by PhS, and joint damage was found in 29/216 (13.4%). Model performance was acceptable for making predictions of long-term outcome. In validation sets, the area under the curves (AUCs) in the receiver operating characteristic (ROC) curves were 0.78 (IQR 0.72-0.82) for non-achievement of remission off medication, 0.73 (IQR 0.67-0.76) for functional disability assessed by CHAQ, 0.74 (IQR 0.65-0.80) for functional disability assessed by PhS, and 0.73 (IQR 0.63-0.76) for joint damage using JADI-A. CONCLUSION: The feasibility of making long-term predictions of JIA outcome based on early clinical assessment is demonstrated. The prediction models have acceptable precision and require only readily available baseline variables. Further testing in other cohorts is warranted.


Assuntos
Antirreumáticos/uso terapêutico , Artrite Juvenil/tratamento farmacológico , Resultado do Tratamento , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Progressão da Doença , Feminino , Humanos , Estudos Longitudinais , Masculino , Indução de Remissão , Países Escandinavos e Nórdicos
16.
Pediatr Rheumatol Online J ; 15(1): 66, 2017 Aug 18.
Artigo em Inglês | MEDLINE | ID: mdl-28821293

RESUMO

BACKGROUND: The incidence of uveitis associated with juvenile idiopathic arthritis (JIA) varies around the world. Our aim was to investigate the incidence and predictors of uveitis in a Nordic population-based cohort. METHODS: Consecutive JIA cases from defined geographical areas in Denmark, Finland, Sweden and Norway with disease onset between January 1997 to June 2000 were followed for median 98 months in this prospective longitudinal cohort study. Potential clinical and immunological predictors of uveitis were identified with logistic regression analysis. RESULTS: Uveitis occurred in 89 (20.5%) of the 435 children with regular ophtalmologic follow-up among the 500 included. Chronic asymptomatic uveitis developed in 80 and acute symptomatic uveitis in 9 children. Uveitis developed at a median interval of 0.8 (range - 4.7 to 9.4) years after onset of arthritis. Predictors of uveitis were age < 7 years at JIA onset (Odds ratio (OR) 2.1, 95% confidence interval (CI) 1.3 to 3.5), presence of antihistone antibodies (AHA) > 15 U/ml (OR 4.8 (1.8 to 13.4)) and antinuclear antibodies (ANA) (OR 2.4 (1.5 to 4.0)). Mean combined IgM/IgG AHA was significantly higher in the uveitis group (19.2 U/ml) than in the non-uveitis group (10.2 U/ml) (p = 0.002). Young age at JIA onset predicted uveitis in girls (p < 0.001), but not in boys (p = 0.390). CONCLUSION: Early-onset arthritis and presence of AHA in girls, as well as presence of ANA in both genders, were significant predictors of chronic uveitis. The high incidence of uveitis in this long-term Nordic JIA cohort may have severe implications in a lifelong perspective.


Assuntos
Artrite Juvenil/complicações , Uveíte/epidemiologia , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Incidência , Estudos Longitudinais , Masculino , Estudos Prospectivos , Fatores de Risco , Países Escandinavos e Nórdicos/epidemiologia , Uveíte/etiologia
17.
Front Immunol ; 8: 497, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28496446

RESUMO

Autoinflammatory disease was introduced as a concept in 1999, demarcating an entirely new group of diseases in clinical, immunological, and conceptual terms. During recent years, the preconditions for the definition of autoinflammatory conditions have changed. This includes the recent discovery of a number of monogenic autoinflammatory conditions with complex phenotypes that combine autoinflammation with defects of the adaptive and/or innate immune system, resulting in the occurrence of infection, autoimmunity, and/or uncontrolled hyperinflammation in addition to autoinflammation. Further, there are strong indications that classical IL-1-driven autoinflammatory diseases are associated with activation of adaptive immunity. As suggested by this development, we are of the opinion that an all-encompassing definition of autoinflammatory diseases should regard autoinflammatory conditions and innate dysregulation as inseparable and integral parts of the immune system as a whole. Hence, in this article, we try to advance the conceptual understanding of autoinflammatory disease by, proposing a modification of the definition by Daniel Kastner et al., which allows for a congruent and precise description of conditions that expand the immunological spectrum of autoinflammatory disease.

18.
Rheumatol Int ; 37(5): 695-703, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28283733

RESUMO

To evaluate whether C-reactive protein (CRP), including variation within the normal range, is predictive of long-term disease outcome in Juvenile Idiopathic Arthritis (JIA). Consecutive patients with newly diagnosed JIA were included prospectively from defined geographic areas of the Nordic countries from 1997 to 2000. Inclusion criteria were availability of a baseline serum sample within 12 months after disease onset and 8-year clinical assessment data. Systemic onset JIA was not included. CRP was measured by high-sensitive ELISA (detection limit of 0.2 mg/l). One hundred and thirty participants with a median follow-up time of 97 months (range 95-100) were included. At follow-up, 38% of the patients were in remission off medication. Absence of remission was associated with elevated level of CRP at baseline (odds ratio (OR) 1.33, confidence interval (CI) 1.08-1.63, p = 0.007). By applying a cutoff at the normal upper limit (>10 mg/l), the risk of not achieving remission was increased to an OR of 8.60 (CI 2.98-24.81, p < 0.001). Variations of CRP within the normal range had no predictive impact on disease activity at follow-up. Baseline levels of ESR were available in 80 patients (61%) and elevated ESR was associated with absence of remission in a multivariable logistic regression analysis (OR 2.32, CI 1.35-4.00, p = 0.002). This results of this study indicate that baseline CRP concentrations above 10 mg/l are predictive of a poor outcome at 8-year follow-up. We could not demonstrate any predictive value of CRP variations within the normal range.


Assuntos
Artrite Juvenil/sangue , Proteína C-Reativa/análise , Adolescente , Sedimentação Sanguínea , Criança , Pré-Escolar , Ensaio de Imunoadsorção Enzimática , Feminino , Seguimentos , Humanos , Masculino , Prognóstico , Adulto Jovem
19.
Pediatr Rheumatol Online J ; 15(1): 13, 2017 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-28222745

RESUMO

BACKGROUND: To study the impact of psoriasis and features associated with psoriasis on classification and outcome in a population-based follow-up cohort of children with juvenile idiopathic arthritis (JIA). METHODS: In all, 440 children with JIA were followed for a median of 8 years in a prospective Nordic population-based cohort study. Data for remission was available for 427 of these children. The presence of psoriasis, psoriasis-like rash, dactylitis, nail pitting, enthesitis, tenosynovitis and heredity was assessed in relation to ILAR classification and remission. RESULTS: Clinical findings associated with psoriasis developed consecutively during the 8-year period. Six of 14 children with psoriasis were not classified as juvenile psoriatic arthritis according to the ILAR criteria at 8 year follow-up. Dactylitis was more common in children with early onset of JIA. After 8 years we found a cumulative median number of eleven arthritic joints in children with psoriasis or psoriasis-like rash compared with six in the rest of the cohort (p = 0.02). Also, the chance for not being in remission after 8 years increased significantly in patients with psoriasis, psoriasis-like rash or at least two of: 1) first-degree heredity for psoriasis or psoriatic arthritis, 2) dactylitis or 3) nail pitting, compared with the rest of the group (OR 3.32, p = 0.010). CONCLUSIONS: Our results indicate a more severe disease over time in psoriasis-associated JIA, as features of psoriasis develop during the disease course. This group is a major challenge to encompass in a future JIA classification in order to facilitate early tailored treatment.


Assuntos
Artrite Juvenil/complicações , Psoríase/etiologia , Idade de Início , Artrite Juvenil/classificação , Artrite Juvenil/epidemiologia , Artrite Psoriásica/classificação , Artrite Psoriásica/epidemiologia , Artrite Psoriásica/etiologia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino , Doenças da Unha/classificação , Doenças da Unha/epidemiologia , Doenças da Unha/etiologia , Estudos Prospectivos , Psoríase/classificação , Psoríase/epidemiologia , Países Escandinavos e Nórdicos/epidemiologia
20.
BMJ Open ; 7(12): e017215, 2017 12 29.
Artigo em Inglês | MEDLINE | ID: mdl-29289934

RESUMO

BACKGROUND AND OBJECTIVE: Umbilical cord blood (UCB) is a valuable stem cell source used for transplantation. Immediate umbilical cord (UC) clamping is widely practised, but delayed UC clamping is increasingly advocated to reduce possible infant anaemia. The aim of this study was to investigate an intermediate UC clamping time point and to evaluate iron status at the age of 4 months in infants who had the UC clamped after 60 s and compare the results with immediate and late UC clamping. DESIGN: Prospective observational study with two historical controls. SETTING: A university hospital in Stockholm, Sweden, and a county hospital in Halland, Sweden. METHODS: Iron status was assessed at 4 months in 200 prospectively recruited term infants whose UC was clamped 60 s after birth. The newborn baby was held below the uterine level for the first 30 s before placing the infant on the mother's abdomen for additional 30 s. The results were compared with data from a previously conducted randomised controlled trial including infants subjected to UC clamping at ≤10 s (n=200) or ≥180 s (n=200) after delivery. RESULTS: After adjustment for age differences at the time of follow-up, serum ferritin concentrations were 77, 103 and 114 µg/L in the 10, 60 and 180 s groups, respectively. The adjusted ferritin concentration was significantly higher in the 60 s group compared with the 10 s group (P=0.002), while the difference between the 60 and 180 s groups was not significant (P=0.29). CONCLUSION: In this study of healthy term infants, 60 s UC clamping with 30 s lowering of the baby below the uterine level resulted in higher serum ferritin concentrations at 4 months compared with 10 s UC clamping. The results suggest that delaying the UC clamping for 60 s reduces the risk for iron deficiency. TRIAL REGISTRATION NUMBER: NCT01245296.


Assuntos
Anemia Ferropriva/prevenção & controle , Constrição , Parto Obstétrico , Sangue Fetal/metabolismo , Saúde do Lactente , Ferro/sangue , Cordão Umbilical/irrigação sanguínea , Adulto , Anemia Ferropriva/sangue , Feminino , Ferritinas/sangue , Humanos , Lactente , Recém-Nascido , Ferro/deficiência , Masculino , Parto , Período Pós-Parto , Gravidez , Estudos Prospectivos , Células-Tronco , Suécia , Fatores de Tempo , Coleta de Tecidos e Órgãos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA