Publications by authors named "Iva Brito"

38 Publications

Kabuki syndrome with Sjögren Syndrome: First case reported.

Reumatol Clin (Engl Ed) 2021 Jul 19. Epub 2021 Jul 19.

Facultad de Medicina, Universidad de Porto, Porto, Portugal; Unidad de Reumatología Pediátrica y Joven Adulto, Centro Hospitalar Universitário de São João, Porto, Portugal.

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http://dx.doi.org/10.1016/j.reumae.2021.03.004DOI Listing
July 2021

Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation.

Acta Reumatol Port 2021 Apr-Jun;46(2):186-188

Pediatric and Young Adult Rheumatology Unity, Centro Hospitalar Universitário São João, Porto, Portugal.

We report a case of Trichorhinophalangeal syndrome type I (TRPS1) in a 16-year-old boy who was referred due to painless finger deformities over the last year. Legg-Calvé-Perthes disease (LGP) had been diagnosed at age 7 and required surgical treatment at age 12. Parents were healthy and non consanguineous; there was family history of pectus carinatum of maternal lineage. On examination the patient presented a bulbous nose, thin and sparse scalp hair; pectus carinatum; clinodactyly of the first and fifth fingers and hard painless swelling of all of the proximal interphalangeal joints; brachydactyly of the toes. Laboratory tests were unremarkable and radiographic studies revealed distinctive abnormalities of the hands (e.g., epiphyseal coning). This diagnosis was confirmed by gene sequencing, which identified in heterozygosity a pathogenic variant c.124G>T (p.Glu42Ter) in the exon 3 of the TRPS1 gene. The diagnosis of TRPS1 may be suspected upon identification of characteristic physical features, a compatible clinical history and imaging findings.
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November 2021

Kabuki Syndrome With Sjögren Syndrome: First Case Reported.

Reumatol Clin (Engl Ed) 2021 Apr 14. Epub 2021 Apr 14.

Facultad de Medicina, Universidad de Porto, Porto, Portugal; Unidad de Reumatología Pediátrica y Joven Adulto, Centro Hospitalar Universitário de São João, Porto, Portugal.

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http://dx.doi.org/10.1016/j.reuma.2021.03.001DOI Listing
April 2021

Juvenile gangrenous vasculitis of the scrotum - a rare entity.

Acta Reumatol Port 2021 Jan-Mar;46(1):82-84

Centro Hospitalar Universitário de São João; Faculdade de Medicina. Universidade de Porto. Portugal.

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November 2021

Systemic juvenile idiopathic arthritis versus adult-onset Still´s disease: the pertinence of changing the current classification criteria.

Acta Reumatol Port 2020 Apr-Jun;45(2):150-151

Centro Hospitalar de São João.

Background: Systemic Juvenile Idiopathic Arthritis (sJIA) is a rare systemic inflammatory disease wich represents a subtype of a Juvenile Idiopathic Arthritis (JIA) according to the Classification of Edmonton. It is distinguished from other subtypes by its pathophysiology, systemic extra-articular involvement and treatment. This disease has strong similarities with Adult-onset Still`s Disease (AOSD). These diseases differing mainly in the diagnostic criteria.

Objective: To identify the similarities between sJIA and AOSD given the benefits that a change to the classification criteria would make.

Methods: Research Portuguese and English scientific papers in Pubmed database and published between 1992 and 2019 using the keywords "juvenile idiopathic arthritis"; "systemic juvenile idiopathic arthritis"; "Still´s disease" and "Adult-onset Still`s disease", having been selected the most clinically and historically relevant ones.

Results: The pathophysiology of SJIA has marked differences when compared to other subtypes of JIA, with a more prominent role of innate immunity and an increased production of interleukins (IL-1, IL-6 and IL-18). The sJIA presents several pathophysiological, clinical and analytical similarities with AOSD. Regarding the current diagnostic criteria (Edmonton´s for sJIA and Yamaguchi´s for AOSD), they differ mainly in the presence of arthritis, which is an essential criterion in the classification of Edmonton, while according to the classification of Yamaguchi, it is only required the presence of arthralgia. The requirement of arthritis in the initial presentation leads to delayed diagnosis in patients who present with other features of sJIA. Concerning treatment, new drugs are currently used in sJIA, allowing for a more oriented therapy in those systemic symptoms are the main problem in the long term.

Conclusions: In a pathology associated to great mortality and morbidity as is sJIA, a timely diagnosis is essential, so a highly suggestive clinical history of sJIA, even in the absence of arthritis, can not be disregarded. Thus, a review of the criteria will allow a faster detection of the pathology in question and an earlier onset of the therapy aiming at a better prognosis.
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July 2021

Hip osteoarthritis treatment with intra-articular injections: hyaluronic acid versus glucocorticoid - a systematic review.

Acta Reumatol Port 2020 Apr-Jun;45(2):127-136

Centro Hospitalar de Vila Nova de Gaia/Espinho.

Objective: To compare the effects of intra-articular injection of glucocorticoid (GC) and hyaluronic acid (HA) on pain and disability caused by hip osteoarthritis (HO).

Materials And Methods: A systematic review of the literature was carried out within MEDLINE (via PubMed), Web of Science, Scopus and Cochrane Central Register of Controlled Trials (CENTRAL) databases, using the keywords (MeSH words): "hip osteoarthritis", "glucocorticoid", "corticosteroid", "corticoid", "hyaluronic acid" and "viscosupplementation". Two independent authors applied inclusion and exclusion criteria, selecting randomized clinical trials with direct comparison between intra-articular injection of GC and HA in patients with HO.

Results: 157 articles were found in the initial search. After applying the exclusion criteria, 36 articles were read, with final selection of 3 randomized clinical trials (n = 484). Two studies compared the administration of these products with placebo (saline) - and one also compared it with a fourth group of patients undergoing only physical therapy. Qvistgaard et al. demonstrated clinical superiority of GC (moderate clinical benefit) and HA (marginal clinical benefit) in pain, at 4 weeks, both compared to placebo; however, there was no statistically significant difference between GC and HA during the 12-week follow-up. Atchia et al. reported a statistically significant improvement in pain and function in patients treated with GC during 8 weeks. Spitzer et al. demonstrated an overall clinical response in patients in both groups throughout the study, with a faster response for those treated with GC. However, the authors highlight the superiority in all outcome measures of HA compared to GC in cases of moderate HO, at 26 weeks.

Discussion: Few studies directly compare the clinical effect between intra-articular injections of GC and HA in HO, showing heterogeneity in the type of population, number of administrations, formulation of HA and follow-up period. The analyzed studies had a short follow-up time. The results obtained seem to demonstrate a superiority of GC compared to HA in managing pain, namely in the speed of clinical response. However, Spitzer et al. demonstrated an overall superiority of HA in patients with moderate HO, which suggests that optimal selection of patients remains to be defined.
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July 2021

Two cases of ADA2 deficiency presenting as childhood polyarteritis nodosa: novel ADA2 variant, atypical CNS manifestations, and literature review.

Clin Rheumatol 2020 Dec 13;39(12):3853-3860. Epub 2020 Jun 13.

Young Adult and Pediatric Rheumatology Unit, Centro Hospitalar e Universitário do Hospital de São João, Porto, Portugal.

Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease resulting from loss-of-function pathogenic variants in ADA2 gene, which might resemble polyarteritis nodosa (PAN). The authors present two pediatric cases of ADA2 deficiency with phenotypic manifestations of PAN, including an unusual presentation with spinal cord ischemia. Also described is an assessment of ADA2 activity and gene expression profiling with description of a previously unreported homozygous variant, c.1226C > A (p.(Pro409His)), detected in a patient with consanguineous parents, confirmed by near-absent ADA2 plasma enzymatic activity. The authors suggest to first obtain enzymatic activity, whenever DADA2 is suspected, before proceeding to genetic testing, due to its excellent cost-effective results. Moreover, physicians must be aware of this monogenic disorder, especially in the case of early-onset PAN-like manifestations, having a family member with similar manifestations or having consanguineous parents suggesting an autosomal recessive inheritance pattern. Given the multi-organ involvement, recognizing the diverse manifestations is a crucial step towards timely diagnosis and management of this potentially fatal but often treatable syndrome.
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http://dx.doi.org/10.1007/s10067-020-05210-4DOI Listing
December 2020

Revisiting the association between systemic lupus erythematosus and gout.

Reumatol Clin (Engl Ed) 2021 Jan 2;17(1):55-56. Epub 2019 Mar 2.

Department of Rheumatology, University Hospital of Strasbourg, France; Centre National de Référence "Maladies auto-immunes systémiques rares", France.

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http://dx.doi.org/10.1016/j.reuma.2019.01.001DOI Listing
January 2021

Seronegative cat scratch disease in a patient with systemic lupus erythematosus.

Acta Reumatol Port 2018 Jul-Sep;43(3):241-242

Centro Hospitalar São João.

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September 2019

Pulmonary involvement in neonatal lupus: a challenging diagnosis - case report and literature review.

Acta Reumatol Port 2018 Jul-Sep;43(3):230-234

Neonatal Intensive Care Unit.

Introduction: Pulmonary involvement is relatively frequent in adult and juvenile patients with Systemic Lupus Erythematosus (SLE), but its occurrence in newborns with Neonatal Lupus Erythematosus (NLE) is exceedingly rare.

Case Report: A mother with SLE and positive anti-SSA/Ro and anti-SSB/La delivered a preterm newborn with third-degree heart block and positive anti-SSA/Ro confirmed postnatally. A temporary pacemaker was placed at D3 and a definitive pacemaker only at D15 due to sepsis with concurrent mild respiratory failure. Despite adequate antibiotic therapy, negative cultures and decreasing inflammatory parameters, at D17 severe respiratory failure ensued, requiring mechanical ventilation. Chest x-ray showed symmetrical interstitial infiltrates. Acute Lupus Pneumonitis (ALP) and Pulmonary Embolism were suspected and the chest angio-CT revealed diffuse ground glass opacities. After 3 methylprednisolone pulses he improved rapidly.

Discussion: The diagnosis of ALP in NLE, mostly one of exclusion, is a challenge. A high degree of suspicion and a multidisciplinary approach to these patients are fundamental in order not to delay establishing a diagnosis. Although few reports in the literature, early aggressive treatments are probably crucial for a favorable outcome without long-term sequelae.
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May 2019

Bone biopsy: an ally in the management of fragility fractures in chronic kidney disease.

Acta Reumatol Port 2018 Jul-Sep;43(3):201-209

Patients with chronic kidney disease (CKD) have an increased susceptibility to fracture and this risk gradually rises as renal disease progresses. Chronic Kidney Disease-Mineral and Bone Disorder (CKD- MBD) encompasses the mineral, bone, hormonal and calcific cardiovascular abnormalities that develop in these patients. Renal osteodystrophy (ROD) corresponds to the histopathologic description of bone lesions associated with CKD-MBD. Fragility fracture approach in CKD stages 1-3a may be similar to that of the general population. However, in stages 3b-5, osteoporosis cannot be established by the World Health Organization (WHO) criteria based on bone mineral density (BMD) or the presence of fragility fractures, because low BMD and fractures can also occur in the different forms of ROD. The gold standard for the diagnosis and classification of ROD is tetracycline double-labelled transiliac bone biopsy, with bone histology and histomorphometric analysis. By informing on bone turnover, mineralization and volume, it is a valuable tool that may help guide the management of CKD patients with fragility fractures, as therapeutic measures are distinct depending if the patient has osteoporosis or one of the forms of ROD. For patients with stages 1-3 CKD, without biochemical abnormalities suggestive of CKD-MBD, who sustained low-trauma fractures, any therapeutic approved for use in osteoporosis could be used. However, there is little evidence for the efficacy and safety of conventional anti-osteoporotic agents in patients with more advanced CKD stages, so currently the approach is opinion-based and must be patient-tailored depending on the presence or absence of ROD.
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May 2019

Post-infectious Digital Ischemia Successfully Treated with Iloprost in a Child.

Reumatol Clin (Engl Ed) 2020 Sep - Oct;16(5 Pt 1):364-365. Epub 2018 Jul 18.

Rheumatology Department, Centro Hospitalar de São João, Porto, Portugal; Rheumatology Department, Faculty de Medicine University of Porto (FMUP), Portugal.

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http://dx.doi.org/10.1016/j.reuma.2018.05.003DOI Listing
August 2021

Neonatal lupus - case series of a tertiary hospital.

Acta Reumatol Port 2017 Oct-Dec;42(4):318-323

Centro Hospitalar de São João, Porto.

Neonatal lupus (NL) is a very rare condition with an estimated incidence of 1 in 20.000 pregnancies. It is caused by the transplacental passage of autoantibodies anti-Ro/SSA, antiSa/SSB antibodies and/or anti-U1 RNP antibodies into the fetal circulation. The mother may be completely asymptomatic or have a known inflammatory rheumatic disease, such as Sjögren syndrome (SS) or Systemic Lupus Erythematosus (SLE). Clinical manifestations are diverse, being the most common cutaneous and cardiac. The authors present a case series of eight cases diagnosed with NL between January 2008 and December 2016 in a tertiary hospital and a brief revision of the literature.
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October 2018

Acute calcific periarthritis in proximal interphalangeal joint: An unusual cause of acute finger pain.

Reumatol Clin (Engl Ed) 2019 Nov - Dec;15(6):e144-e145. Epub 2017 Oct 10.

Rheumatology Department, Centro Hospitalar São João, Porto, Portugal; Faculty of Medicine of Porto University, Porto, Portugal.

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http://dx.doi.org/10.1016/j.reuma.2017.08.006DOI Listing
June 2020

Genetic Screening of Mutations Associated with Fabry Disease in a Nationwide Cohort of Juvenile Idiopathic Arthritis Patients.

Front Med (Lausanne) 2017 1;4:12. Epub 2017 Mar 1.

EpiDoC, CEDOC, Nova Medical School , Lisbon , Portugal.

Fabry's disease (FD) is a lysosomal storage disorder associated with an alpha-galactosidase A deficiency. The prevalence of FD among juvenile idiopathic arthritis (JIA) patients with established diagnosis is unknown, but as musculoskeletal pain may be an important complaint at presentation, misdiagnosed cases are anticipated. With this study, we aim to calculate the frequency of FD-associated mutations in a cohort of JIA patients. Children with JIA from a national cohort were selected. Clinical and laboratorial information was recorded in the Portuguese rheumatic diseases register (http://Reuma.pt). Molecular genetic testing to detect gene mutations was performed. After the multiplex polymerase chain reactions technique for DNA amplification, direct sequencing of the complete sequence of gene was completed. From a cohort of 292 patients with JIA (188 females, 104 males), mutations were identified in 5 patients (all female). Four patients had the mutation D313Y, a rare variant, which is associated with low enzymatic levels in plasma, but normal lysosomal levels. One patient presented the missense mutation R118C, which was previously described in Mediterranean patients with FD. This is the first screening of FD mutations in a cohort of JIA patients. No "classic" pathogenic FD mutations were reported. The late-onset FD-associated mutation, R118C, was found in a frequency of 0.34% (1/292).
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http://dx.doi.org/10.3389/fmed.2017.00012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331034PMC
March 2017

Intracardiac thrombosis in Behçet's disease: a life threatening event.

Rev Bras Reumatol Engl Ed 2017 Jan - Feb;57(1):85-87. Epub 2015 Jan 24.

Centro Hospitalar de São João, Serviço de Reumatologia, Porto, Portugal; Faculdade de Medicina do Porto, Departamento de Reumatologia, Porto, Portugal; Centro Hospitalar de São João, Porto, Departamento de Pediatria, Porto, Portugal.

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http://dx.doi.org/10.1016/j.rbre.2014.11.002DOI Listing
September 2019

Clinical phenotype and outcome in lupus according to age: a comparison between juvenile and adult onset.

Reumatol Clin (Engl Ed) 2018 May - Jun;14(3):160-163. Epub 2016 Dec 28.

Rheumatology Department of São João Hospital Centre, Oporto, Portugal.

Objective: To study differences in demographic, clinical and immunologic characteristics, activity and cumulative organ damage according to age of onset in systemic lupus erythematosus (SLE).

Methods: Cross-sectional study was performed including 204 SLE patients. Characteristics were compared between juvenile and adult-onset SLE patients using parametric and nonparametric tests (SPSS 23.0).

Results: Juvenile-SLE patients had malar rash more often (78.9% vs 53%; p=0.001), oral ulcers (45.5% vs 17.5%; p=0.001), neurological involvement (13.1% vs 3.6%; p=0.02) nephritis (50% vs 33.9%), p=0.04) and haematological manifestations such as hemolytic anaemia (23.6% vs 5.4%; p=0.002) and leukopenia (46.1% vs 4.2%; p<0.001). Arthritis was more prevalent in adult-onset patients (70.9% vs 90%; p<0.04). Overall, 20% of juvenile patients had chronic damage (Systemic Lupus International Collaborating Clinics/Damage Index [SLICC/DI]≥1), However, the percentage of patients with irreversible damage was higher in the adult SLE patient group (24%, p=0.04). No statistically significant differences were found in other characteristics studied.

Conclusion: In summary, our study confirms the existence of differences in clinical manifestations, according to age at diagnosis of SLE. Juvenile-SLE patients showed a more aggressive clinical presentation.
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http://dx.doi.org/10.1016/j.reuma.2016.10.011DOI Listing
May 2019

Juvenile idiopathic arthritis in adulthood: fulfilment of classification criteria for adult rheumatic diseases, long-term outcomes and predictors of inactive disease, functional status and damage.

RMD Open 2016 22;2(2):e000304. Epub 2016 Sep 22.

Rheumatology Department, Santa Maria Hospital-CHLN, Lisbon Academic Medical Center, Lisbon, Portugal; Rheumatology Research Unit, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.

Objectives: To determine how adult juvenile idiopathic arthritis (JIA) patients fulfil classification criteria for adult rheumatic diseases, evaluate their outcomes and determine clinical predictors of inactive disease, functional status and damage.

Methods: Patients with JIA registered on the Rheumatic Diseases Portuguese Register (Reuma.pt) older than 18 years and with more than 5 years of disease duration were included. Data regarding sociodemographic features, fulfilment of adult classification criteria, Health Assessment Questionnaire, Juvenile Arthritis Damage Index-articular (JADI-A) and Juvenile Arthritis Damage Index-extra-articular (JADI-E) damage index and disease activity were analysed.

Results: 426 patients were included. Most of patients with systemic JIA fulfilled criteria for Adult Still's disease. 95.6% of the patients with rheumatoid factor (RF)-positive polyarthritis and 57.1% of the patients with RF-negative polyarthritis matched criteria for rheumatoid arthritis (RA). 38.9% of the patients with extended oligoarthritis were classified as RA while 34.8% of the patients with persistent oligoarthritis were classified as spondyloarthritis. Patients with enthesitis-related arthritis fulfilled criteria for spondyloarthritis in 94.7%. Patients with psoriatic arthritis maintained this classification. Patients with inactive disease had lower disease duration, lower diagnosis delay and corticosteroids exposure. Longer disease duration was associated with higher HAQ, JADI-A and JADI-E. Higher JADI-A was also associated with biological treatment and retirement due to JIA disability and higher JADI-E with corticosteroids exposure. Younger age at disease onset was predictive of higher HAQ, JADI-A and JADI-E and decreased the chance of inactive disease.

Conclusions: Most of the included patients fulfilled classification criteria for adult rheumatic diseases, maintain active disease and have functional impairment. Younger age at disease onset was predictive of higher disability and decreased the chance of inactive disease.
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http://dx.doi.org/10.1136/rmdopen-2016-000304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5051503PMC
September 2016

Topical capsaicin for pain in osteoarthritis: A literature review.

Reumatol Clin (Engl Ed) 2018 Jan - Feb;14(1):40-45. Epub 2016 Aug 27.

Rheumatology Department, Centro Hospitalar São João, Porto, Portugal; Department of Medicine, Faculty of Medicine of Porto University, Porto, Portugal.

Osteoarthritis is the most common joint disorder worldwide. The predominant symptom, pain, is usually treated with acetaminophen or oral non-steroidal anti-inflammatory drugs, although they are associated with a significant risk of side effects. Topical capsaicin may represent an effective and safe alternative. The aim of this review is to examine the evidence for the efficacy and safety profile of topical capsaicin in the management of pain caused by osteoarthritis. Databases were searched for articles published between 2004 and 2016, in Portuguese, English or Spanish, using the search terms "capsaicin" and "osteoarthritis". When compared to placebo, it was found that topical capsaicin has a good safety profile and efficacy in reducing osteoarthritis pain of the hand, knee, hip or shoulder. However, the studies have significant limitations, the most important the difficulty of blinding. It is attributed to this review the strength of recommendation B.
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http://dx.doi.org/10.1016/j.reuma.2016.07.008DOI Listing
October 2018

Systemic Sclerosis and Kaposi's Sarcoma with Pulmonary Involvement: An Unexpected Association.

Arch Bronconeumol 2017 Mar 21;53(3):165-166. Epub 2016 Aug 21.

Rheumatology Department, Centro Hospitalar São João, Oporto, Portugal; Faculty of Medicine, Porto University, Oporto, Portugal.

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http://dx.doi.org/10.1016/j.arbres.2016.06.019DOI Listing
March 2017

Structural damage to the hip in systemic juvenile idiopathic arthritis: A case of regression with Anakinra.

Reumatol Clin 2017 Mar - Apr;13(2):118-119. Epub 2016 Feb 9.

Rheumatology Department, Centro Hospitalar São João, Porto, Portugal; Faculty of Medicine of Porto University, Porto, Portugal.

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http://dx.doi.org/10.1016/j.reuma.2015.12.007DOI Listing
February 2016

Effectiveness and long-term retention of anti-tumour necrosis factor treatment in juvenile and adult patients with juvenile idiopathic arthritis: data from Reuma.pt.

Rheumatology (Oxford) 2016 Apr 15;55(4):697-703. Epub 2015 Dec 15.

Rheumatology Research Unit, Instituto de Medicina Molecular, Rheumatology Department, Lisbon Academic Medical Center, Lisbon.

Objectives: Assess the effectiveness and safety of biologic therapy as well as predictors of response at 1 year of therapy, retention rate in biologic treatment and predictors of drug discontinuation in JIA patients in the Portuguese register of rheumatic diseases.

Methods: We prospectively collected patient and disease characteristics from patients with JIA who started biological therapy. Adverse events were collected during the follow-up period. Predictors of response at 1 year and drug retention rates were assessed at 4 years of treatment for the first biologic agent.

Results: A total of 812 JIA patients [65% females, mean age at JIA onset 6.9 years (s.d. 4.7)], 227 received biologic therapy; 205 patients (90.3%) were treated with an anti-TNF as the first biologic. All the parameters used to evaluate disease activity, namely number of active joints, ESR and Childhood HAQ/HAQ, decreased significantly at 6 months and 1 year of treatment. The mean reduction in Juvenile Disease Activity Score 10 (JADAS10) after 1 year of treatment was 10.4 (s.d. 7.4). According to the definition of improvement using the JADAS10 score, 83.3% respond to biologic therapy after 1 year. Fourteen patients discontinued biologic therapies due to adverse events. Retention rates were 92.9% at 1 year, 85.5% at 2 years, 78.4% at 3 years and 68.1% at 4 years of treatment. Among all JIA subtypes, only concomitant therapy with corticosteroids was found to be univariately associated with withdrawal of biologic treatment (P = 0.016).

Conclusion: Biologic therapies seem effective and safe in patients with JIA. In addition, the retention rates for the first biologic agent are high throughout 4 years.
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http://dx.doi.org/10.1093/rheumatology/kev398DOI Listing
April 2016

Genetic Predictors of Poor Prognosis in Portuguese Patients with Juvenile Idiopathic Arthritis: Data from Reuma.pt.

J Immunol Res 2015 4;2015:706515. Epub 2015 Oct 4.

Rheumatology Research Unit, Instituto de Medicina Molecular, 1649-028 Lisbon, Portugal ; Rheumatology Department, Lisbon Academic Medical Center, 1649-028 Lisbon, Portugal.

Introduction: This study aimed to assess the genetic determinants of poor outcome in Portuguese patients with juvenile idiopathic arthritis (JIA).

Methods: Our study was conducted in Reuma.pt, the Rheumatic Diseases Portuguese Register, which includes patients with JIA. We collected prospectively patient and disease characteristics and a blood sample for DNA analysis. Poor prognosis was defined as CHAQ/HAQ >0.75 at the last visit and/or the treatment with biological therapy. A selected panel of single nucleotide polymorphisms (SNPs) associated with susceptibility was studied to verify if there was association with poor prognosis.

Results: Of the 812 patients with JIA registered in Reuma.pt, 267 had a blood sample and registered information used to define "poor prognosis." In univariate analysis, we found significant associations with poor prognosis for allele A of TNFA1P3/20 rs6920220, allele G of TRAF1/C5 rs3761847, and allele G of PTPN2 rs7234029. In multivariate models, the associations with TRAF1/C5 (1.96 [1.17-3.3]) remained significant at the 5% level, while TNFA1P3/20 and PTPN2 were no longer significant. Nevertheless, none of associations found was significant after the Bonferroni correction was applied.

Conclusion: Our study does not confirm the association between a panel of selected SNP and poor prognosis in Portuguese patients with JIA.
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http://dx.doi.org/10.1155/2015/706515DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609464PMC
May 2016

Systemic Lupus Erythematosus: Correlation Between Immunodysregulation and Clinical Manifestations.

Curr Rheumatol Rev 2016 ;12(2):154-61

Faculty of Medicine, University of Porto, Al. Prof. Hernâni Monteiro, 4200 - 319 Porto, Portugal.

Systemic Lupus Erythematosus is considered a prototype of an autoimmune disorder. The greatly compromise immune system reflects in a global loss of self-tolerance and an array of autoantibodies which are the hallmark of the disease. Diagnosis and clinical management are a challenge to physicians owing its complex clinical course. Specific correlation between immunodysregulation and the clinical manifestations have been studied and we intended in this paper to review recent studies, highlighting new discoveries in this matter.
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http://dx.doi.org/10.2174/1573397111666151026223228DOI Listing
February 2017

Trombose intracardíaca na doença de Behçet: evento com risco de vida.

Rev Bras Reumatol 2014 Dec 23. Epub 2014 Dec 23.

Serviço de Reumatologia, Centro Hospitalar de São João, Porto, Portugal; Departamento de Reumatologia, Faculdade de Medicina do Porto, Porto, Portugal; Departamento de Pediatria, Centro Hospitalar de São João, Porto, Portugal.

An adolescent with a recent diagnostic of Behçet's Disease (BD) was admitted with fever and intracardiac lesions detected on a routine transthoracic echocardiography, suggestive of endocarditis. Due to the absence of improvement after several rounds of antibiotics the patient was submitted to contrast-enhanced cardiac MRI that showed signs of intracardiac thrombosis, superior vena cava syndrome and pulmonary thromboembolism. The patient underwent surgery to excise the lesions and has been treated with cyclophosphamide and high dose prednisolone achieving complete remission. Intracardiac thrombosis is a rare manifestation of BD, and is associated with a poor prognosis. These patients usually require a combination of anticoagulation and immunosuppression to achieve remission.
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http://dx.doi.org/10.1016/j.rbr.2014.11.001DOI Listing
December 2014

Childhood polyarteritis nodosa presenting as stroke and arterial hypertension.

BMJ Case Rep 2014 Oct 29;2014. Epub 2014 Oct 29.

Paediatric Rheumatology Unit, Paediatrics Department, Centro Hospitalar de São João, Porto, Portugal Faculdade de Medicina da Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1136/bcr-2014-207866DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4216891PMC
October 2014

Using the Juvenile Arthritis Disease Activity Score based on erythrocyte sedimentation rate or C-reactive protein level: results from the Portuguese register.

Arthritis Care Res (Hoboken) 2014 Apr;66(4):585-91

Instituto de Medicina Molecular and Hospital Egas Moniz, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal.

Objective: Our aims were to evaluate the correlation between Juvenile Arthritis Disease Activity Score 27-joint reduced count (JADAS27) with erythrocyte sedimentation rate (ESR) and JADAS27 with C-reactive protein (CRP) scores and to test the agreement of both scores on classifying each disease activity state. We also aimed at verifying the correlation of the 2 scores across juvenile idiopathic arthritis (JIA) categories and to check the correlation between JADAS27-ESR and clinical JADAS27 (JADAS27 without ESR).

Methods: A nationwide cohort of patients with JIA registered in the Portuguese Register, Reuma.pt, was studied. JADAS27-CRP was adapted by replacing ESR with CRP level as the inflammatory marker. JADAS27-CRP was calculated similarly to JADAS27-ESR as the simple linear sum of its 4 components. Pearson's correlations and K statistics were used in the analyses.

Results: A total of 358 children had full data to calculate JADAS27; 65.4% were female and the mean ± SD disease duration was 11.8 ± 9.1 years. The correlation coefficient between JADAS27-ESR and JADAS27-CRP was 0.967 (P < 0.0001), although the correlation coefficient between ESR and CRP level was 0.335 (P < 0.0001). The strong correlation between JADAS27-ESR and JADAS27-CRP was maintained when compared within each JIA category. The agreement between JADAS27-ESR and JADAS27-CRP across the 4 activity states was very good, showing 91.1% of the observations in agreement; K = 0.867 (95% confidence interval 0.824-0.91). The correlation between JADAS27 with ESR and JADAS27 without ESR was high (r = 0.97, P < 0.0001).

Conclusion: JADAS27 based on CRP level correlated closely with JADAS27-ESR across all disease activity states and JIA categories, indicating that both measures can be used in clinical practice. Moreover, the correlation of JADAS27 with and without ESR was also high, suggesting that this tool might be useful even in the absence of laboratorial measures.
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http://dx.doi.org/10.1002/acr.22215DOI Listing
April 2014

Juvenile Systemic Lupus Erythematosus: neuropsychiatric manifestations.

Acta Reumatol Port 2012 Apr-Jun;37(2):117-25

Faculdade de Medicina da Universidade do Porto.

Juvenile Systemic Lupus Erythematosus (jSLE) is a chronic and multisystemmic autoimmune disease, which appears before 16 years old with an incidence of 10 to 20 cases per 100,000 children. The clinical spectrum of jSLE can be quite variable. The most common symptoms are constitutional, followed by the cutaneous, musculoskeletal, renal, and neuropsychiatric involvement. Neuropsychiatric involvement in jSLE has a prevalence ranging from 20 to 50.9% and results in significant morbidity and mortality. The most common clinical manifestations of juvenile neuropsychiatric SLE (NPSLE) are headache, cognitive dysfunction, mood disturbances and seizures. The pathophysiology of juvenile NPSLE is not yet fully known, but immunological and inflammatory factors, such as autoantibodies, cytokines and prothrombotic states are widely described. The role of autoantibodies in the onset of specific clinical manifestations has also been recognized. Juvenile NPSLE manifestations are often difficult to diagnose. In addition to semiological aspects, the study and validation of neuropsychological testing and neurocognitive assessment for the juvenile SLE population are essential. The role of advanced imaging techniques should be explored. The treatment of juvenile NPSLE must be individualized according to the type and severity of clinical manifestations, relying on symptomatic therapy, anticoagulants or steroids. New therapeutic approaches, including biotherapies need controlled randomized trials for further validation. This article aims to review the pathogenesis, clinical manifestations, diagnosis and treatment of juvenile NPSLE.
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March 2014

Growth cartilage expression of growth hormone/insulin-like growth factor I axis in spontaneous and growth hormone induced catch-up growth.

Growth Horm IGF Res 2012 Jun-Aug;22(3-4):129-33. Epub 2012 May 14.

Pediatric Rheumatology Unit, Pediatric Department, Hospital São João, Porto, Portugal.

Introduction: Catch-up growth following the cessation of a growth inhibiting cause occurs in humans and animals. Although its underlying regulatory mechanisms are not well understood, current hypothesis confer an increasing importance to local factors intrinsic to the long bones' growth plate (GP).

Aim: The present study was designed to analyze the growth-hormone (GH)-insulin-like growth factor I (IGF-I) axis in the epiphyseal cartilage of young rats exhibiting catch-up growth as well as to evaluate the effect of GH treatment on this process.

Material And Methods: Female Sprague-Dawley rats were randomly grouped: controls (group C), 50% diet restriction for 3 days+refeeding (group CR); 50% diet restriction for 3 days+refeeding & GH treatment (group CRGH). Analysis of GH receptor (GHR), IGF-I, IGF-I receptor (IGF-IR) and IGF binding protein 5 (IGFBP5) expressions by real-time PCR was performed in tibial growth plates extracted at the time of catch-up growth, identified by osseous front advance greater than that of C animals.

Results: In the absence of GH treatment, catch-up growth was associated with increased IGF-I and IGFBP5 mRNA levels, without changes in GHR or IGF-IR. GH treatment maintained the overexpression of IGF-I mRNA and induced an important increase in IGF-IR expression.

Conclusions: Catch-up growth that happens after diet restriction might be related with a dual stimulating local effect of IGF-I in growth plate resulting from overexpression and increased bioavailability of IGF-I. GH treatment further enhanced expression of IGF-IR which likely resulted in a potentiation of local IGF-I actions. These findings point out to an important role of growth cartilage GH/IGF-I axis regulation in a rat model of catch-up growth.
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June 2013
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