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2.
Clin J Pain ; 2020 Jan 20.
Artigo em Inglês | MEDLINE | ID: mdl-31977372

RESUMO

OBJECTIVES: During hospitalization in neonatal intensive care units (NICU), neonates are exposed to many painful procedures within a stressful environment. To date, many evidence-based guidelines are available. However, the quality of these guidelines and their clinical application remain unclear. This systematic review aims at determining the quality of existing guidelines on the management of procedural pain in neonates and to summarize the recommendations provided by these guidelines. METHODS: A structured search was conducted in Embase, PubMed, CINAHL, JBI database and in grey literature resources in November 2018 to identify relevant guidelines published from 2007 onwards. Published guidelines and guidelines from complementary searches were included treating assessment or management of procedural pain in neonates. The methodological quality was analyzed using the Appraisal of Guidelines for Research and Evaluation (AGREE) II Instrument. RESULTS: A total of 1154 records were identified. After screening for eligibility, 17 guidelines were included in this review. Among these, 11 were identified to be high quality guidelines. Besides the usual recommendations for pharmacological and non-pharmacological treatments, inclusion of parents, improving interprofessional collaboration and considering the setting were identified as important elements. DISCUSSION: The results of this review show that there is a need to improve the methodological quality of guidelines for procedural pain in newborns. The set of recommendations for procedural pain prevention needs to involve not only pharmacological and non-pharmacological pain treatment but also parents and interprofessional collaboration. It is also essential to take into account facilitators, barriers and context to improve pain management.

3.
Pediatr Dermatol ; 37(1): 120-123, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31755135

RESUMO

BACKGROUND: Acute hemorrhagic edema of young children is a benign skin-limited vasculitis mainly affecting children 2 to 24 months of age, which is often considered the infantile variant of immunoglobulin A vasculitis (Henoch-Schönlein purpura). In most cases, the diagnosis is made on a clinical basis without a skin biopsy. METHODS: A systematic review of the literature was performed to examine the reported prevalence of vascular immune deposits in skin biopsies of patients with acute hemorrhagic edema of young children. RESULTS: Testing for vascular immune deposits was performed in 75 cases (64 boys and 11 girls aged from 3.5 to 72, median 11 months) published between 1970 and 2018. Vessel wall deposition of complement C3 was seen in 40 cases. Immunoglobulin M (N = 24), immunoglobulin A (N = 21), immunoglobulin G (N = 13), and immunoglobulin E (N = 3) were less frequently detected. Gender, age, clinical features, and disease duration were not statistically different in cases with and without vessel wall deposition of immunoglobulin A. CONCLUSION: Immune deposits in skin vessels, most frequently complement C3, are common in subjects with acute hemorrhagic edema of young children, providing furhter evidence that acute hemorrhagic edema, immunoglobulin A vasculitis, and pauci-immune vasculitides are different entities.

5.
Ann Rheum Dis ; 78(8): 1025-1032, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31018962

RESUMO

BACKGROUND: Different diagnostic and classification criteria are available for hereditary recurrent fevers (HRF)-familial Mediterranean fever (FMF), tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency (MKD) and cryopyrin-associated periodic syndromes (CAPS)-and for the non-hereditary, periodic fever, aphthosis, pharyngitis and adenitis (PFAPA). We aimed to develop and validate new evidence-based classification criteria for HRF/PFAPA. METHODS: Step 1: selection of clinical, laboratory and genetic candidate variables; step 2: classification of 360 random patients from the Eurofever Registry by a panel of 25 clinicians and 8 geneticists blinded to patients' diagnosis (consensus ≥80%); step 3: statistical analysis for the selection of the best candidate classification criteria; step 4: nominal group technique consensus conference with 33 panellists for the discussion and selection of the final classification criteria; step 5: cross-sectional validation of the novel criteria. RESULTS: The panellists achieved consensus to classify 281 of 360 (78%) patients (32 CAPS, 36 FMF, 56 MKD, 37 PFAPA, 39 TRAPS, 81 undefined recurrent fever). Consensus was reached for two sets of criteria for each HRF, one including genetic and clinical variables, the other with clinical variables only, plus new criteria for PFAPA. The four HRF criteria demonstrated sensitivity of 0.94-1 and specificity of 0.95-1; for PFAPA, criteria sensitivity and specificity were 0.97 and 0.93, respectively. Validation of these criteria in an independent data set of 1018 patients shows a high accuracy (from 0.81 to 0.98). CONCLUSION: Eurofever proposes a novel set of validated classification criteria for HRF and PFAPA with high sensitivity and specificity.

6.
J Rheumatol ; 46(4): 429-436, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30385706

RESUMO

OBJECTIVE: Provisional evidence-based classification criteria for hereditary periodic fever (HPF) have been recently developed. However, no consensus on how to combine clinical criteria, laboratory tests, and results of molecular analysis has been reached. The objective of this study is to understand which variables physicians consider important for the classification of patients with HPF. METHODS: Two Delphi surveys were sent to health professionals in the field of autoinflammation. In the first open survey, 124 researchers could list all the variables they consider useful for the diagnosis of each monogenic periodic fever. The variables could be of any type and each researcher could complete the survey for 1 or more diseases. In the second survey, 162 researchers were asked to select, from a list of items coming from the first survey, the 10 top variables and to rank them by assigning a score from 10 to 1. RESULTS: The response rates to the Delphi surveys were 85% for the first session and 87% for the second. The variables selected for each disease (corresponding to the third quartile, considering the total score obtained by the variables after the second Delphi survey) were 21 for mevalonate kinase deficiency, 22 for cryopyrinopathies, 18 for familial Mediterranean fever, and 20 for tumor necrosis factor receptor-associated periodic fever syndrome. A positive genetic test reached the top rank in all the HPF. CONCLUSION: Our process led to the identification of those features considered the most important as candidate variables to be included in a new set of evidence-based classification criteria for HPF.

7.
Pediatr Rheumatol Online J ; 16(1): 60, 2018 Sep 21.
Artigo em Inglês | MEDLINE | ID: mdl-30241480

RESUMO

BACKGROUND: Diagnosis of Periodic Fever, Aphthous stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) syndrome is currently based on the modified Marshall's criteria, but no validated evidence based classification criteria for PFAPA has been established so far. METHODS: A multistep process, based on the Delphi and Nominal Group Technique was conducted. After 2 rounds of e-mail Delphi survey involving 21 experts in autoinflammation we obtained a list of variables that were discussed in an International Consensus Conference. Variables reaching the 80% of consensus between participants were included in the new classification criteria. In the second phase the new classification criteria and the modified Marshall's criteria were applied on a cohort of 80 pediatric PFAPA patients to compare their performance. RESULTS: The Delphi Survey was sent to 22 participants, 21 accepted to participate. Thirty variables were obtained from the survey and have been discussed at the Consensus Conference. Through the Nominal Group Technique we obtained a new set of classification criteria. These criteria were more restrictive in respect to the modified Marshall's criteria when applied on our cohort of patients. CONCLUSION: Our work led us to identify a new set of classification criteria for PFAPA syndrome, but they resulted to be too restrictive to be applied in daily clinical practice for the diagnosis of PFAPA.


Assuntos
Doenças Hereditárias Autoinflamatórias/diagnóstico , Consenso , Técnica Delfos , Diagnóstico Diferencial , Febre/complicações , Doenças Hereditárias Autoinflamatórias/classificação , Humanos , Linfadenite/complicações , Faringite/complicações , Estomatite Aftosa/complicações , Síndrome
8.
J Rheumatol ; 45(11): 1581-1587, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30111639

RESUMO

OBJECTIVE: To extend the magnetic resonance imaging (MRI) score for assessment of wrist synovitis in juvenile idiopathic arthritis (JIA) by inclusion of the metacarpophalangeal (MCP) joints, and to compare the metric properties of the original and the extended score. METHODS: Wrist MRI of 70 patients with JIA were scored by 3 independent readers according to (1) the wrist component of the rheumatoid arthritis MRI synovitis score (comprising distal radioulnar, radiocarpal, and combined midcarpal and carpometacarpal joints); and (2) an extended score including the MCP joints. Thirty-eight patients had a 1-year MRI followup. The concordance between the readers [intraclass correlation coefficient (ICC), 95% limits of agreement (LOA), and weighted Cohen's κ], correlations with clinical variables (Spearman's ϱ), and the sensitivity to change [standardized response mean (SRM)] were calculated for both scores. RESULTS: The interreader agreement was moderate for the original score (ICC 0.77; 95% CI 0.68-0.84) and good for the extended score (ICC 0.86; 95% CI 0.80-0.91). Using 95% LOA, the aggregate score variability was less favorable with relatively wide LOA. Weighted Cohen's κ of the individual joints indicated good agreement for the original score and good to excellent agreement for the extended score. Correlations with clinical variables reflecting disease activity improved for the extended score and its SRM was higher compared to that of the original score. CONCLUSION: The extended score showed better reliability, construct validity, and sensitivity to change than the original. Inclusion of the MCP joints should be considered for a more accurate assessment of disease activity and treatment efficacy in JIA.


Assuntos
Artrite Juvenil/diagnóstico por imagem , Imagem por Ressonância Magnética , Articulação Metacarpofalângica/diagnóstico por imagem , Punho/diagnóstico por imagem , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Índice de Gravidade de Doença
9.
Rheumatol Int ; 38(Suppl 1): 379-386, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29637354

RESUMO

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Swiss French language. The reading comprehension of the questionnaire was tested in ten JIA parents and patients. Each participating centre was asked to collect demographic, clinical data, and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the three Likert assumptions, floor/ceiling effects, internal consistency, Cronbach's alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity). A total of 98 JIA patients (3.1% systemic, 43.9% oligoarticular, 16.3% RF negative polyarthritis, 36.7% other categories), and 64 healthy children were enrolled in a paediatric rheumatology centre. The JAMAR components discriminated well healthy subjects from JIA patients. All JAMAR components revealed good psychometric performances. In conclusion, the Swiss French version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research.


Assuntos
Artrite Juvenil/diagnóstico , Avaliação da Deficiência , Medidas de Resultados Relatados pelo Paciente , Reumatologia/métodos , Adolescente , Idade de Início , Artrite Juvenil/fisiopatologia , Artrite Juvenil/psicologia , Artrite Juvenil/terapia , Estudos de Casos e Controles , Criança , Pré-Escolar , Características Culturais , Feminino , Nível de Saúde , Humanos , Masculino , Pais/psicologia , Pacientes/psicologia , Valor Preditivo dos Testes , Prognóstico , Psicometria , Qualidade de Vida , Reprodutibilidade dos Testes , Suíça , Tradução
10.
Pediatr Rheumatol Online J ; 16(1): 27, 2018 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-29669569

RESUMO

BACKGROUND: Diagnosis of Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) is currently based on a set of criteria proposed in 1999 modified from Marshall's criteria. Nevertheless no validated evidence based set of classification criteria for PFAPA has been established so far. The aim of this study was to identify candidate classification criteria PFAPA syndrome using international consensus formation through a Delphi questionnaire survey. METHODS: A first open-ended questionnaire was sent to adult and pediatric clinicians/researchers, asking to identify the variables thought most likely to be helpful and relevant for the diagnosis of PFAPA. In a second survey, respondents were asked to select, from the list of variables coming from the first survey, the 10 features that they felt were most important, and to rank them in descending order from most important to least important. RESULTS: The response rate to the first and second Delphi was respectively 109/124 (88%) and 141/162 (87%). The number of participants that completed the first and second Delphi was 69/124 (56%) and 110/162 (68%). From the first Delphi we obtained a list of 92 variables, of which 62 were selected in the second Delphi. Variables reaching the top five position of the rank were regular periodicity, aphthous stomatitis, response to corticosteroids, cervical adenitis, and well-being between flares. CONCLUSION: Our process led to identification of features that were felt to be the most important as candidate classification criteria for PFAPA by a large sample of international rheumatologists. The performance of these items will be tested further in the next phase of the study, through analysis of real patient data.


Assuntos
Febre/diagnóstico , Linfadenite/diagnóstico , Faringite/diagnóstico , Estomatite Aftosa/diagnóstico , Criança , Pré-Escolar , Consenso , Técnica Delfos , Diagnóstico Diferencial , Febre/complicações , Humanos , Linfadenite/complicações , Faringite/complicações , Estomatite Aftosa/complicações , Inquéritos e Questionários , Síndrome
11.
Rev Med Suisse ; 14(594): 384-389, 2018 Feb 14.
Artigo em Francês | MEDLINE | ID: mdl-29461753

RESUMO

The cause of Kawasaki disease (KD) is still unknown, but an infectious origin and genetic susceptibility have been suggested. The American Heart Association has changed the guidelines for diagnosis and treatment of KD in 2017. One goal is to better identify patients most at risk, particularly young children with « incomplete ¼ KD. In case of intravenous immunoglobulin resistance, alternative treatments to the traditional use of corticosteroids, such as TNF-alpha inhibitors have been proposed. For all patients with coronary aneurisms, regular assessment of myocardial perfusion is recommended, either with stress echocardiography, MRI, scintigraphy or PET-scan.


Assuntos
Síndrome de Linfonodos Mucocutâneos , Criança , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Fator de Necrose Tumoral alfa
12.
Clin Exp Rheumatol ; 36(2): 329-334, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29185965

RESUMO

OBJECTIVES: To investigate the capacity of ultrasound (US) to detect improvement of synovial abnormalities induced by treatment in juvenile idiopathic arthritis (JIA). METHODS: Eighty-three joints (33 knees, 22 tibiotalar, 10 wrists, 9 elbows, 9 subtalar joints) of 33 patients with new-onset JIA were assessed by US at study entry and 6 months after a therapeutic intervention. Each joint was scored for grey-scale (GS) and power Doppler (PD) abnormalities according to a 4-point semiquantitative scale. Pre- and post-treatment US scores were compared and the sensitivity to change of GSUS and PDUS was estimated. Clinical response was assessed using the ACR paediatric (ACRp) response criteria. RESULTS: Seventeen patients (51.5%) underwent intra-articular corticosteroid injection (IACI) only, 15 (45.5%) were given IACI and systemic medications, and 1 (3.0%) was started with systemic therapy alone. Both GSUS and PDUS scores improved significantly (p<0.0001) from baseline to follow-up. US revealed strong sensitivity to change with standardised response mean for GSUS and PDUS of 2.44 and 1.23, respectively. At the follow-up visit, 13/20 (65.0%) joints with residual US abnormalities were judged in remission on clinical grounds. Six/21 (28.6%) patients who were ACRp90 responders did not display complete resolution of synovial abnormalities on US. CONCLUSIONS: US is a sensitive tool to assess therapeutic response in patients with JIA. Subclinical disease on US is common in joints with clinically-defined remission. An ACRp90 response may not be coupled with complete resolution of synovial abnormalities on US. Further studies are needed to establish the impact of US on therapeutic decision-making in JIA.


Assuntos
Artrite Juvenil/tratamento farmacológico , Membrana Sinovial/diagnóstico por imagem , Ultrassonografia Doppler , Corticosteroides/administração & dosagem , Artrite Juvenil/diagnóstico por imagem , Pré-Escolar , Feminino , Humanos , Injeções Intra-Articulares , Masculino
13.
Clin Rev Allergy Immunol ; 53(3): 469-476, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29116459

RESUMO

Neonatal lupus erythematosus is an uncommon syndrome, which is caused by transplacental passage of maternal autoantibodies to Sjögren's syndrome A or B autoantigens. The clinical presentation includes distinctive cutaneous lesions resembling those seen in systemic lupus erythematosus, hepatobiliary disease, and cytopenias, which disappear with the clearance of maternal autoantibodies. The most severe presentation is a total atrioventricular heart block, which begins during the second trimester of gestation and is irreversible. The risk of having a child with neonatal lupus erythematosus in mothers who test positive for autoantibodies to Sjögren's syndrome autoantigens is approximately 2% for first pregnancies or if previous babies were healthy. The risk increases by approximately tenfold if a previous child had neonatal lupus erythematosus syndrome. The diagnosis of neonatal lupus erythematosus is made when the mother has autoantibodies to Sjögren's syndrome autoantigens, and the fetus or newborn develops atrioventricular heart block, or the newborn develops the typical rash or hepatic or hematologic manifestations in the absence of other explanation. Fetal echocardiography from the 16th to the 26th week of gestation is advised in mothers with autoantibodies to Sjögren autoantigens. The detection of a slow fetal heart rate or the postnatal diagnosis of atrioventricular heart block warrants immediate maternal testing for these autoantibodies if not previously tested.


Assuntos
Doenças do Recém-Nascido/imunologia , Lúpus Eritematoso Sistêmico/imunologia , Autoanticorpos/metabolismo , Feminino , Bloqueio Cardíaco , Humanos , Recém-Nascido , Paridade , Gravidez , Risco , Síndrome
14.
Eur J Pediatr ; 176(9): 1147-1153, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28725955

RESUMO

In the past years, pediatric rheumatology has seen a revolution in the treatments for rheumatic diseases, particularly juvenile idiopathic arthritis. Even if nonsteroidal anti-inflammatory drugs (NSAID), intra-articular corticosteroids (IAC) injections, and methotrexate remain the mainstay of the treatment for JIA patients, in aggressive disease, these treatments may be not sufficient to reach disease remission and to prevent long-term disability. Comprehension of immunological mechanisms involved in the pathogenesis of the diseases allowed to conceive new drugs targeting specific steps of the immune response. Several cytokines, like TNF alpha and IL-1, represent a very interesting target for biologic therapies. Due to the efficacy of these therapies, nowadays, "disease remission" in pediatric rheumatology is more and more frequent, especially in juvenile idiopathic arthritis patients, and the long-term outcomes have been significantly improved. Crucial to these advancements have been multicenter controlled clinical trials and long-term safety monitoring. CONCLUSIONS: Research in pediatric rheumatology has resulted in dramatic advances in diseases management. Biologic treatments have improved physical and functional outcomes and quality of life of patients with rheumatic disease. What is Known: • NSAID, intra-articular injection of corticoids, and methotrexate are the mainstay in treatment of JIA. • In aggressive JIA, these treatments may be not sufficient to reach disease remission and to prevent long term disability. What is New: • In recent years, management of JIA has significantly improved with the development of biologic therapies that allowed children with arthritis to reach a normal growth and to achieve a good long-term functional outcome.


Assuntos
Artrite Juvenil/tratamento farmacológico , Produtos Biológicos/uso terapêutico , Gerenciamento Clínico , Corticosteroides/uso terapêutico , Anti-Inflamatórios não Esteroides/uso terapêutico , Antirreumáticos/uso terapêutico , Artrite Juvenil/classificação , Criança , Ensaios Clínicos como Assunto , Humanos , Injeções Intra-Articulares , Interleucina-1/uso terapêutico , Metotrexato/uso terapêutico , Qualidade de Vida , Indução de Remissão , Fator de Necrose Tumoral alfa/imunologia , Fator de Necrose Tumoral alfa/uso terapêutico
15.
Pediatr Rheumatol Online J ; 14(1): 38, 2016 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-27349388

RESUMO

The syndrome of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA syndrome) is the most common cause of periodic fever in childhood. The current pharmacological treatment includes corticosteroids, which usually are efficacious in the management of fever episodes, colchicine, for the prophylaxis of febrile episodes, and other medication for which efficacy has not been proven so far. Tonsillectomy is an option for selected patients. Usually PFAPA syndrome resolves during adolescence, but there is increasing evidence that this condition may persist into adulthood.


Assuntos
Colchicina/uso terapêutico , Febre/terapia , Glucocorticoides/uso terapêutico , Linfadenite/terapia , Faringite/terapia , Estomatite Aftosa/terapia , Tonsilectomia , Moduladores de Tubulina/uso terapêutico , Adolescente , Criança , Gerenciamento Clínico , Humanos , Pescoço , Periodicidade , Síndrome
16.
Curr Rheumatol Rep ; 18(4): 18, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26984802

RESUMO

PFAPA syndrome represents the most common cause of recurrent fever in children in European populations, and it is characterized by recurrent episodes of high fever, pharyngitis, cervical adenitis, and aphthous stomatitis. Many possible causative factors have been explored so far, including infectious agents, immunologic mechanisms and genetic predisposition, but the exact etiology remains unclear. Recent findings demonstrate a dysregulation of different components of innate immunity during PFAPA flares, such as monocytes, neutrophils, complement, and pro-inflammatory cytokines, especially IL-1ß, suggesting an inflammasome-mediated innate immune system activation and supporting the hypothesis of an autoinflammatory disease. Moreover, in contrast with previous considerations, the strong familial clustering suggests a potential genetic origin rather than a sporadic disease. In addition, the presence of variants in inflammasome-related genes, mostly in NLRP3 and MEFV, suggests a possible role of inflammasome-composing genes in PFAPA pathogenesis. However, none of these variants seem to be relevant, alone, to its etiology, indicating a high genetic heterogeneity as well as an oligogenic or polygenic genetic background.


Assuntos
Febre/etiologia , Linfadenite/etiologia , Faringite/etiologia , Estomatite Aftosa/etiologia , Febre/terapia , Predisposição Genética para Doença , Humanos , Imunidade Inata , Inflamassomos/genética , Linfadenite/terapia , Faringite/terapia , Recidiva , Estomatite Aftosa/terapia , Síndrome
17.
Pediatr Rheumatol Online J ; 14(1): 2, 2016 Jan 06.
Artigo em Inglês | MEDLINE | ID: mdl-26732177

RESUMO

BACKGROUND: The JAMAR (Juvenile Arthritis Multidimensional Assessment Report) has been developed to evaluate the perception of the patient and his parents on different items: well-being, pain, functional status, quality of life, disease activity, disease course, side effects of medication, therapeutic compliance and satisfaction with illness outcome. Our aim was to compare disease's perception by JIA patients and their parents. METHODS: We included into the study 100 consecutive patients over 7 years of age. We asked both parent and child to complete the JAMAR questionnaire. For each patient we recorded demographic and disease related data. We examined the level of disagreement between children and parents for the quantitative items of the JAMAR: VAS Pain, VAS Disease Activity, VAS Well Being, Juvenile Arthritis Functional Score, HRQoL. Then we looked for a relation between discordance-rate and demographic and clinical variables. RESULTS: Children and parents' median scores for all five items were similar. Individual dyads agreement was low, with a large amount of pairs (80) discordant for at least one item. We found higher MD VAS and JADAS in more discordant dyads, suggesting that when the disease is more active discordance between child and parent increase. CONCLUSION: The JAMAR questionnaire is an important tool that helps clinicians to detect divergent child and parent's disease perceptions. It is essential that both patients and parents fill the JAMAR questionnaire for a complete clinical and psychosocial evaluation.


Assuntos
Artrite Juvenil/psicologia , Pais/psicologia , Cooperação do Paciente/psicologia , Percepção , Qualidade de Vida , Inquéritos e Questionários , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
18.
Sci Rep ; 5: 10200, 2015 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-25988833

RESUMO

PFAPA syndrome is the most common autoinflammatory syndrome in children from Western countries. In spite of its strong familial clustering, its genetic basis and inheritance pattern are still unknown. We performed a comprehensive genetic study on 68 individuals from 14 families. Linkage analysis suggested a susceptibility locus on chromosome 8, but direct molecular sequencing did not support this initial statistical finding. Exome sequencing revealed the absence of any gene that was mutated in all patients. Exhaustive screening of genes involved in other autoinflammatory syndromes or encoding components of the human inflammasome showed no DNA variants that could be linked to PFAPA molecular pathology. Among these, the previously-reported missense mutation V198M in the NLRP3 gene was clearly shown not to co-segregate with PFAPA. Our results on this relatively large cohort indicate that PFAPA syndrome is unlikely to be a monogenic condition. Moreover, none of the several genes known to be involved in inflammation or in autoinflammatory disorders seem to be relevant, alone, to its etiology, suggesting that PFAPA results from oligogenic or complex inheritance of variants in multiple disease genes and/or non-genetic factors.


Assuntos
Febre/genética , Doenças Hereditárias Autoinflamatórias/genética , Linfadenite/genética , Faringite/genética , Estomatite Aftosa/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Reguladoras de Apoptose/genética , Sequência de Bases , Proteínas de Transporte/genética , Células Cultivadas , Criança , Feminino , Estudo de Associação Genômica Ampla , Humanos , Masculino , Proteína 3 que Contém Domínio de Pirina da Família NLR , Recidiva , Análise de Sequência de DNA
19.
Rev Med Suisse ; 8(329): 418-22, 2012 Feb 22.
Artigo em Francês | MEDLINE | ID: mdl-22432243

RESUMO

Biotherapies are recent treatments, which target molecules implicated in the pathogenesis of inflammatory diseases. In pediatric rheumatology, we use anti-TNF-alpha and abatacept in JIA patients with polyarticular involvement, whereas anti-IL-6 and anti-IL-1 blockers are efficacious in the systemic form of JIA and other auto-inflammatory conditions. These new treatments have significantly improved the control of articular and systemic inflammation and the prognosis of rheumatic diseases. Their effect and their safety on the long-term need to be assessed on large cohorts of patients. Due to the impact of these chronic illnesses on the young patient and its family, and the required specific knowledge, the care of these children should be provided by a multidisciplinary team linked to a centre of competence.


Assuntos
Doenças Reumáticas/tratamento farmacológico , Produtos Biológicos/uso terapêutico , Criança , Humanos
20.
Pediatr Nephrol ; 25(2): 205-12, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19641940

RESUMO

Immunoglobulin (Ig)G antineutrophil cytoplasmic autoantibodies are causally associated with necrotizing vasculitides that are characterized immunopathologically by little or no deposition of immunoreactants, such as Wegener granulomatosis, microscopic polyangiitis, Churg-Strauss angiitis, "renal-limited" vasculitis and a number of drug-induced vasculitides. Clinical routine testing targets the antigens myeloperoxidase and proteinase 3. However, in all of the conditions mentioned, the renal histopathologic findings are indistinguishable. Churg-Strauss angiitis (characterized by necrotizing vasculitis, granulomatous inflammation and tissue eosinophilia), Wegener granulomatosis (characterized by necrotizing vasculitis and granulomatous inflammation) and microscopic polyangiitis (characterized by necrotizing vasculitis) often present with fever, weight loss and a multisystem involvement (ear, nose, throat, lung, eyes, peripheral nerve and heart). Fifty years ago these conditions were very often fatal within 6 months of diagnosis. The introduction of corticosteroids and cyclophosphamide has resulted in a dramatic clinical benefit. Patients who develop treatment-related morbidity can be switched from cyclophosphamide to azathioprine after achieving remission. In patients with less severe disease, methotrexate achieves remission with a success rate similar to that of cyclophosphamide. Plasma exchange, in association with immunosuppression, is likely to be a beneficial therapy for patients with severe kidney disease or pulmonary hemorrhage.


Assuntos
Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/imunologia , Anticorpos Anticitoplasma de Neutrófilos/sangue , Imunoglobulina G/imunologia , Adolescente , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/tratamento farmacológico , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/patologia , Azatioprina/uso terapêutico , Síndrome de Churg-Strauss/tratamento farmacológico , Síndrome de Churg-Strauss/imunologia , Síndrome de Churg-Strauss/patologia , Ciclofosfamida/uso terapêutico , Feminino , Glucocorticoides/uso terapêutico , Granulomatose com Poliangiite/tratamento farmacológico , Granulomatose com Poliangiite/imunologia , Granulomatose com Poliangiite/patologia , Humanos , Imunossupressores/uso terapêutico , Masculino , Poliangiite Microscópica/tratamento farmacológico , Poliangiite Microscópica/imunologia , Poliangiite Microscópica/patologia
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