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1.
Rheumatol Int ; 38(Suppl 1): 99-105, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29637368

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 Chilean Spanish 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, and construct validity (convergent and discriminant validity). A total of 49 JIA patients (12.2% systemic, 24.5% oligoarticular, 22.5% RF-negative polyarthritis, 40.8% other categories) and 70 healthy children, were enrolled. The JAMAR components discriminated well healthy subjects from JIA patients. All JAMAR components revealed good psychometric performances. In conclusion, the Chilean Spanish 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 , Chile , Características Culturais , Feminino , Nível de Saúde , Humanos , Masculino , Pais/psicologia , Pacientes/psicologia , Valor Preditivo dos Testes , Prognóstico , Psicometria , Qualidade de Vida , Reprodutibilidade dos Testes , Tradução
2.
Rev. chil. pediatr ; 88(2): 252-257, abr. 2017. tab
Artigo em Espanhol | LILACS | ID: biblio-844607

RESUMO

La deficiencia de anticuerpos específicos con inmunoglobulinas séricas y linfocitos B normales (SAD) es una inmunodeficiencia primaria caracterizada por una capacidad alterada de responder a antígenos específicos, especialmente polisacáridos. OBJETIVO: Describir las características clínicas de pacientes con SAD y destacar la asociación entre una inmunodeficiencia primaria y enfermedades alérgicas. Pacientes y Método: Estudio descriptivo en enfermos con SAD atendidos en un hospital público entre agosto de 2007 y julio de 2015. Se descartó otra inmunodeficiencia primaria o secundaria. El diagnóstico se basó en infecciones recurrentes y una respuesta anormal a la vacuna neumocócica polisacárida con medición de IgG específica para 10 serotipos de neumococo. RESULTADOS: Se incluyeron 12 pacientes, 4 varones, con una edad promedio de 6 años; predominaron las neumonías recurrentes (91,7%) y otras infecciones respiratorias e invasivas. Los 12 enfermos con SAD tenían asma asociada; 11, rinitis alérgica y otras alergias. Tres pacientes no respondieron a ninguno de los 10 serotipos contenidos en la vacuna neumocócica polisacárida y la mayoría de los que lo hicieron fue a títulos bajos. El tratamiento con vacuna neumocócica conjugada fue favorable en 11/12 enfermos. CONCLUSIÓN: En niños mayores de 2 años con infecciones respiratorias recurrentes o infecciones invasivas por S. pneumoniae con inmunoglobulinas normales recomendamos investigar SAD, más aún si tienen enfermedad alérgica asociada.


Specific antibody deficiency (SAD) with normal immunoglobulin and normal B cells is a primary immunodeficiency characterized by reduced ability to produce antibodies to specific antigens especially polysaccharides. OBJECTIVE: To describe the characteristics of patients diagnosed with SAD emphasizing the association between primary immunodeficiency and allergic diseases. PATIENTS AND METHOD: Descriptive study showing patients with SAD treated at a public hospital between August 2007 and July 2015. Other secondary or primary immunodeficiency was discarded. The diagnosis of SAD was based on recurrent infections and abnormal response to pneumococcal polysaccharide vaccine assessed by specific IgG to 10 pneumococcal serotypes. Results: Twelve patients were included, 4 males, mean age 6 years, recurrent pneumonia predominated (91.7%) as well as other respiratory and invasive infections. All patients with SAD had associated asthma, 11 had allergic rhinitis, and other allergies. Three patients did not respond to any of the 10 serotypes contained in pneumococcal polysaccharide vaccine, and those who responded were with low titers. Treatment with conjugate pneumococcal vaccine was favorable in 11/12 patients. CONCLUSION: In children older than 2 years with recurrent respiratory infections or invasive S. pneumoniae infections with normal immunoglobulin we recommend to investigate SAD, especially if they have a concurrent allergic disease.


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Asma/complicações , Rinite Alérgica/complicações , Síndromes de Imunodeficiência/diagnóstico , Asma/imunologia , Rinite Alérgica/imunologia , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/imunologia
3.
Rev Chil Pediatr ; 88(2): 252-257, 2017 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-27614984

RESUMO

Specific antibody deficiency (SAD) with normal immunoglobulin and normal B cells is a primary immunodeficiency characterized by reduced ability to produce antibodies to specific antigens especially polysaccharides. OBJECTIVE: To describe the characteristics of patients diagnosed with SAD emphasizing the association between primary immunodeficiency and allergic diseases. PATIENTS AND METHOD: Descriptive study showing patients with SAD treated at a public hospital between August 2007 and July 2015. Other secondary or primary immunodeficiency was discarded. The diagnosis of SAD was based on recurrent infections and abnormal response to pneumococcal polysaccharide vaccine assessed by specific IgG to 10 pneumococcal serotypes. RESULTS: Twelve patients were included, 4 males, mean age 6 years, recurrent pneumonia predominated (91.7%) as well as other respiratory and invasive infections. All patients with SAD had associated asthma, 11 had allergic rhinitis, and other allergies. Three patients did not respond to any of the 10 serotypes contained in pneumococcal polysaccharide vaccine, and those who responded were with low titers. Treatment with conjugate pneumococcal vaccine was favorable in 11/12 patients. CONCLUSION: In children older than 2 years with recurrent respiratory infections or invasive S. pneumoniae infections with normal immunoglobulin we recommend to investigate SAD, especially if they have a concurrent allergic disease.


Assuntos
Asma/complicações , Síndromes de Imunodeficiência/diagnóstico , Rinite Alérgica/complicações , Adolescente , Asma/imunologia , Criança , Pré-Escolar , Feminino , Humanos , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/imunologia , Masculino , Rinite Alérgica/imunologia
4.
Rev. chil. pediatr ; 87(6): 468-473, Dec. 2016. tab
Artigo em Espanhol | LILACS | ID: biblio-844567

RESUMO

Introducción: La prevalencia de sensibilización al látex es variable. Se describen diversos factores de riesgo para la sensibilización al látex, como riesgo genético, atopia y múltiples intervenciones quirúrgicas. Objetivo: Caracterizar los pacientes con sospecha de alergia al látex, analizar sus características clínicas y factores de riesgo. Pacientes y método: Estudio retrospectivo, descriptivo, en niños derivados a la Unidad de Inmunología pediátrica por sospecha de alergia al látex y para confirmación diagnóstica. Se revisaron síntomas por contacto o exposición a materiales con látex. Se identificó factores de riesgo para la sensibilización al látex: patologías con múltiples intervenciones quirúrgicas (espina bífida, mielomeningocele, escoliosis y alteraciones nefrourológicas), atopia (rinitis o asma, dermatitis atópica), y se realizó prick test y/o IgE específica para látex. Se efectuó un modelo de regresión logística multivariado para asociar síntomas de exposición al látex con enfermedades de base y condiciones de riesgo. Resultados: Se reclutaron 106 pacientes, de los cuales 50 fueron analizables. El 96% eran mayores de 5 años de edad al momento del diagnóstico. La mayoría de los factores de riesgo descritos en la literatura eran observables en estos pacientes (múltiples cirugías, malformaciones neurológicas y nefrourológicas, intervenciones quirúrgicas antes del año de edad y cateterismo vesical repetido). Luego de la exposición, las manifestaciones cutáneo-mucosas fueron las más frecuentes (52%), seguidas por las respiratorias (36%). El 100% de los pacientes estaban sensibilizados al látex. Conclusión: La sensibilización y alergia al látex es un problema relevante en niños con factores de riesgo. Los resultados mostrados plantean importantes desafíos en relación con medidas preventivas.


Introduction: The prevalence of latex sensitisation varies according to the population studied. There are various risk factors that increase latex sensitisation, such as genetic risk, atopy, and multiple surgeries. Objective: To characterise patients referred to an Immunology Unit with suspected latex allergy, and to analyse their clinical features and risk factors. Patients and method: A retrospective, descriptive study was conducted on children suspected of latex allergy. Their medical records were reviewed in order to assess symptoms with contact or exposure to latex materials. Known risk factors to latex sensitisation, such as pathologies requiring repeated surgery (spina bifida, myelomeningocele, scoliosis and nephro-urological alterations), atopy (rhinitis, asthma, atopic dermatitis) were investigated. A prick test and/or specific IgE to latex were also performed. A multivariate logistic regression model was performed to find associations between symptoms triggered by exposure to latex with underlying diseases and other risk conditions. Results: A total of 106 patients were enrolled in the study, of whom 50 were evaluable. At diagnosis 96% of patients were older than five years. Most of the risk factors described were observable in these patients, such as multiple surgeries, neurological and nephro-urological malformations, surgery before one year-old, and repeated bladder catheterisation. After latex exposure, mucous cutaneous manifestations were the most common (52%), followed by respiratory symptoms (36%). All patients were sensitised and allergic to latex. Conclusion: Latex allergy is a significant problem in children with risk factors. The results shown in this study raise important challenges for preventive measures and awareness.


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Adulto Jovem , Imunoglobulina E/imunologia , Testes Cutâneos/métodos , Hipersensibilidade ao Látex/epidemiologia , Modelos Logísticos , Prevalência , Análise Multivariada , Estudos Retrospectivos , Fatores de Risco , Hipersensibilidade ao Látex/diagnóstico , Hipersensibilidade ao Látex/etiologia , Hospitais Pediátricos
5.
Rev Chil Pediatr ; 87(6): 468-473, 2016.
Artigo em Espanhol | MEDLINE | ID: mdl-27354157

RESUMO

INTRODUCTION: The prevalence of latex sensitisation varies according to the population studied. There are various risk factors that increase latex sensitisation, such as genetic risk, atopy, and multiple surgeries. OBJECTIVE: To characterise patients referred to an Immunology Unit with suspected latex allergy, and to analyse their clinical features and risk factors. PATIENTS AND METHOD: A retrospective, descriptive study was conducted on children suspected of latex allergy. Their medical records were reviewed in order to assess symptoms with contact or exposure to latex materials. Known risk factors to latex sensitisation, such as pathologies requiring repeated surgery (spina bifida, myelomeningocele, scoliosis and nephro-urological alterations), atopy (rhinitis, asthma, atopic dermatitis) were investigated. A prick test and/or specific IgE to latex were also performed. A multivariate logistic regression model was performed to find associations between symptoms triggered by exposure to latex with underlying diseases and other risk conditions. RESULTS: A total of 106 patients were enrolled in the study, of whom 50 were evaluable. At diagnosis 96% of patients were older than five years. Most of the risk factors described were observable in these patients, such as multiple surgeries, neurological and nephro-urological malformations, surgery before one year-old, and repeated bladder catheterisation. After latex exposure, mucous cutaneous manifestations were the most common (52%), followed by respiratory symptoms (36%). All patients were sensitised and allergic to latex. CONCLUSION: Latex allergy is a significant problem in children with risk factors. The results shown in this study raise important challenges for preventive measures and awareness.


Assuntos
Imunoglobulina E/imunologia , Hipersensibilidade ao Látex/epidemiologia , Testes Cutâneos/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Hospitais Pediátricos , Humanos , Hipersensibilidade ao Látex/diagnóstico , Hipersensibilidade ao Látex/etiologia , Modelos Logísticos , Masculino , Análise Multivariada , Prevalência , Estudos Retrospectivos , Fatores de Risco , Adulto Jovem
6.
Rev Chil Pediatr ; 86(2): 112-6, 2015.
Artigo em Espanhol | MEDLINE | ID: mdl-26235691

RESUMO

INTRODUCTION: Chronic granulomatous disease (CGD) is a rare form of primary immunodeficiency disease, characterized by an abnormal susceptibility to bacterial and fungal infections, and it is caused by a deficit in the phagocyte nicotinamide adenine dinucleotide phosphate oxidase complex (NADPH), resulting in the inability to generate reactive oxygen species that destroy microorganisms. The diagnosis is based on clinical characteristics and analysis of phagocytes, and later confirmed by molecular studies. Its management should consider antimicrobial prophylaxis, a search for infections and aggressive management of these. OBJECTIVE: To describe three cases of CGD emphasizing their forms of presentation and to conduct a review of the condition. CASE REPORTS: Three case reports, two of them first cousins, are presented. Molecular diagnosis was reached in one of the cases. Recurrent infections, abscesses, adenitis, granulomas and complications are identified to facilitate the suspected diagnosis of CGD, bearing in mind the importance of early diagnosis and genetic counseling. CONCLUSIONS: EGC is a rare congenital primary immunodeficiency disorder, mostly with X-linked inheritance, autosomal recessive form, and a specific presentation form. Its diagnosis should be timely to avoid complications. Prophylaxis and aggressive treatment of infections should be performed, as well as genetic counseling.


Assuntos
Doença Granulomatosa Crônica/diagnóstico , Técnicas de Diagnóstico Molecular/métodos , Fagócitos/metabolismo , Adolescente , Criança , Feminino , Aconselhamento Genético/métodos , Doença Granulomatosa Crônica/genética , Doença Granulomatosa Crônica/fisiopatologia , Humanos , Lactente , Masculino
7.
Rev. chil. reumatol ; 30(3): 98-118, 2014. tab, ilus
Artigo em Espanhol | LILACS | ID: lil-776847

RESUMO

La artritis idiopática juvenil (AIJ) ha sido definida por la Liga Internacional de Asociaciones de Reumatología (ILAR) como artritis de etiología desconocida que se inicia antes de los 16 años y dura por al menos seis semanas, habiendo excluido otras condiciones conocidas. La AIJ es una enfermedad cubierta por el sistema de Garantías Explícitas en Salud (GES) del Ministerio de Salud de Chile desde 2010. La presente guía, desarrollada por el Grupo Pediátrico de la Sociedad Chilena de Reumatología, consiste en una actualización de la Guía Clínica de AIJ 2010, incorporando nuevos protocolos terapéuticos y medicamentos que han demostrado un claro beneficio para niños con AIJ...


Juvenile idiopathic arthritis (JIA) has been defined by the International League of Associations for Rheumatology as arthritis of unknown etiology that begins before the sixteenth birthday and persists for at least 6 weeks with other known conditions excluded. JIA is a disease that is covered by the Explicit Health Guarantees system of the Chilean Ministry of Health since 2010. The present guideline developed by the Pediatric Group of the Chilean Rheumatology Society is an update of the 2010 JIA Clinical Guideline incorporating new treatment protocols and medications that have demonstrated clear benefits in children with JIA...


Assuntos
Humanos , Adolescente , Pré-Escolar , Criança , Artrite Juvenil/diagnóstico , Artrite Juvenil/terapia , Chile
8.
Ter. psicol ; 28(1): 55-67, jul. 2010. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-577541

RESUMO

En dos experimentos, estudiantes universitarios aprendieron una relación predictiva entre un evento y una consecuencia, la que posteriormente fue extinguida presentando el evento sin la consecuencia. En el Experimento 1, se presentó la consecuencia por sí sola después de la extinción, ocasionando la reaparición de la relación predictiva aprendida originalmente, asemejándose al fenómeno del condicionamiento Pavloviano conocido como "reinstalación". Este experimento demostró además, que no es necesario apelar a asociaciones inhibitorias para explicar la reinstalación, sino que solamente a asociaciones excitatorias entre el contexto y la consecuencia. El Experimento 2 confirmó la generalidad de estos hallazgos utilizando otro procedimiento de aprendizaje causal. Se discuten estos hallazgos en términos de las diferencias entre el aprendizaje causal y el condicionamiento Pavloviano y de la posible existencia de dos mecanismos alternativos de extinción: desaprendizaje para extinguir asociaciones no consolidadas e inhibición para las consolidadas.


In two experiments, undergraduates learned a predictive relationship between an event and a consequence, which was subsequently extinguished by presenting the event without the consequence. In Experiment 1, participants were exposed to the consequence by itself after extinction, occasioning the reappearance of the originally learned predictive relationship, resembling a phenomenon known as Reinstatement in the field of Pavlovian conditioning. This experiment further demonstrated that reinstatement can be explained without appealing to inhibitory associations, but only by mean of excitatory associations between the context and the consequence. Experiment 2 confirmed the generality of these findings using a different procedure of causal learning. The findings are discussed in terms of differences between Pavlovian conditioning and causal learning and of the possible existence of two mechanisms of extinction: unlearning to extinguish non consolidated associations and inhibition for the consolidated associations.


Assuntos
Humanos , Masculino , Feminino , Aprendizagem por Associação , Causalidade , Condicionamento Psicológico , Extinção Psicológica , Rememoração Mental , Modelos Psicológicos , Testes Neuropsicológicos
9.
Rev. chil. reumatol ; 24(1): 12-17, 2008. tab
Artigo em Espanhol | LILACS | ID: lil-497954

RESUMO

Las artritis inflamatorias del niño constituyen un grupo heterogéneo de enfermedades de presentaciones clínicasdiversas y distintas bases genéticas. Esto ha hecho necesario desarrollar protocolos para el mejor manejo de estos cuadros. En este artículo el Grupo Pediátrico de la Sociedad Chilena de Reumatología ha propuesto una Guía clínica de tratamiento de la Artritis Idiopática Juvenil según los actualesCriterios de Clasificación de ILAR (International League of Associatons for Rheumatology), Edmonton 2001.


Inflammatory arthritis in children is a heterogeneous disease group with several clinical signs and different genetic background. This has brought about the need to develop clinical trials to improve disease management. In this article, the Pediatric Group of the Chilean Rheumatology Society has proposed a Clinical Guide for the medical treatment of Juvenile Idiopathic Arthritis, based on the latest Classification Criteria of the International League of Associations for Rheumatology, ILAR, Edmonton 2001.


Assuntos
Humanos , Criança , Artrite Juvenil/terapia , Algoritmos , Artrite Juvenil/classificação , Artrite Juvenil/diagnóstico , Artrite Juvenil/epidemiologia , Guias de Prática Clínica como Assunto , Prognóstico , Fatores de Risco
10.
J Med Virol ; 79(12): 1927-34, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-17935173

RESUMO

Parvovirus B19 infection is associated with a wide variety of symptoms and signs, and given that some clinical features, such as anemia, arthropathy and rash may be attributable to other causes, laboratory diagnosis of B19 markers is necessary. The principal aims were to study the behavior of B19 infection-associated diseases in the Chilean population and to compare B19 markers for recent or active infection and for immunity status in patients with clinical symptoms suspicious of B19 infection and control individuals. Sera from a total of 267 patients with diverse clinical manifestations associated with B19 and from 69 healthy controls were tested for B19 DNA using PCR and for specific IgM and immunoglobulin G (IgG) by enzyme-linked immunosorbent assay (ELISA). Out of 267 patients examined, 89 had B19-associated disease markers: 43 had B19 DNA without IgM, 25 had IgM without B19 DNA, and 21 had both B19 DNA and IgM. Also 49 patients were positive only for IgG without B19 DNA or IgM. Out of the 69 healthy controls, only 2 had B19 DNA without IgM and 30 had IgG without B19 DNA and/or IgM. The distribution of the clinical diagnoses associated with recent B19 infection, tested by B19 DNA and/or IgM, included 38.5% with hematological illnesses, 23.4% with rheumatic diseases, 45.7% with infectious diseases, 33.3% with indications of prenatal infection, 32.3% with conditions that induce immunodeficiency, and 15.8% with other miscellaneous conditions. The use of both markers, DNA and IgM, allows a more adequate diagnosis of infection by this virus.


Assuntos
Infecções por Parvoviridae/epidemiologia , Infecções por Parvoviridae/imunologia , Parvovirus B19 Humano/isolamento & purificação , Anticorpos Antivirais/sangue , Biomarcadores , Chile/epidemiologia , DNA Viral/sangue , Humanos , Imunoglobulina G/sangue , Imunoglobulina M/sangue
11.
Rev Med Chil ; 134(8): 965-72, 2006 Aug.
Artigo em Espanhol | MEDLINE | ID: mdl-17130983

RESUMO

BACKGROUND: The X-linked form of chronic granulomatous disease (CGD) is a primary immunodeficiency that affects phagocytes of the innate immune system and is characterized by an increased susceptibility to severe bacterial and fungal infections. It is caused by mutations in the CYBB gene, which encodes the 91-kD subunit of phagocyte NADPH oxidase. AIM: To identify the mutation in the CYBB gene in two unrelated patients from Chile with the diagnosis of X-linked CGD and their families. PATIENTS AND METHODS: The molecular genetic defects of two unrelated patients from Chile with X-linked CGD caused by defects in the CYBB gene were investigated. The underlying mutation was investigated by single strand conformation polymorphism (SSCP) analysis of PCR-amplified genomic DNA and by sequencing of the affected gene region. RESULTS: We found an insertion c.1267_1268insA in exon 10 leading to a frameshift mutation. This mutation is a novel report. We also identified a splice site mutation in the other patient, that presented a c.1326 +1 G>A substitution in intron 10. The mutation was also detectable in his heterozygous mother. CONCLUSIONS: This is the first report of the clinical and molecular characterization of Chilean patients with mutations in CYBB gene.


Assuntos
Mutação da Fase de Leitura/genética , Doença Granulomatosa Crônica/genética , Glicoproteínas de Membrana/genética , Mutagênese Insercional/genética , NADPH Oxidases/genética , Estudos de Casos e Controles , Criança , Pré-Escolar , Chile , Doença Granulomatosa Crônica/diagnóstico , Humanos , Masculino , NADPH Oxidase 2 , Sítios de Splice de RNA , Análise de Sequência de DNA
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