ABSTRACT
INTRODUCTION: Juvenile idiopathic arthritis (JIA) is the most common rheumatological disease of childhood. The therapy with tumor necrosis factor (TNF) inhibitors (TNFi) in JIA patients has demonstrated efficacy and safety. The most reported adverse event is the high susceptibility to infections. Preventive vaccination helps to decrease these risks. The information on response to vaccines in JIA patients having treatment with anti-TNF is limited. OBJECTIVES: To evaluate the response to pneumococcal vaccine in JIA patients undergoing treatment with mAb. MATERIALS AND METHODS: Analytical observational mixed cohort study. Data obtained from the clinical records of an immunorheumatology polyclinic of a metropolitan hospital in Santiago (Chile). Treatments, pneumococcal vaccine schedules, immunological laboratory, and measurement of specific antibodies against 10 pneumococcal serotypes were recorded. RESULTS: Nineteen patients were included; average age was 13.8 years; and average evolution time of the disease was 46.2 months. Adalimumab (Humira®) was indicated in case of 13 patients (68.4%) and etanercept (Enbrel®) to 6 (31.5%). The most indicated scheme was a dose of 13-valent pneumococcal conjugate vaccine (PCV13) followed at 8 weeks by a dose of pneumococcal polysaccharide vaccine (PPSV23) in nine (47.3%) patients. Seventeen (89.4%) patients were on immunosuppressive treatment at the time of vaccination. Only one patient did not meet the criteria for response to vaccine. CONCLUSIONS: The pneumococcal vaccine induces protective levels of serum antibodies in JIA patients undergoing TNFi treatment. The vaccination schedule and the lymphocyte count could influence the response capacity.
Subject(s)
Arthritis, Juvenile , Pneumococcal Infections , Adolescent , Antibodies, Bacterial , Arthritis, Juvenile/drug therapy , Cohort Studies , Humans , Pneumococcal Infections/prevention & control , Pneumococcal Vaccines , Streptococcus pneumoniae/immunology , Tumor Necrosis Factor InhibitorsABSTRACT
Introduction: Juvenile idiopathic arthritis (JIA) is the most common rheumatological disease of childhood. The therapy with tumor necrosis factor (TNF) inhibitors (TNFi) in JIA patients has demonstrated efficacy and safety. The most reported adverse event is the high susceptibility to infections. Preventive vaccination helps to decrease these risks. The information on response to vaccines in JIA patients having treatment with anti-TNF is limited. Objectives: To evaluate the response to pneumococcal vaccine in JIA patients undergoing treatment with mAb. Materials and methods Analytical observational mixed cohort study. Data obtained from the clinical records of an immunorheumatology polyclinic of a metropolitan hospital in Santiago (Chile). Treatments, pneumococcal vaccine schedules, immunological laboratory, and measurement of specific antibodies against 10 pneumococcal serotypes were recorded. Results: Nineteen patients were included; average age was 13.8 years; and average evolution time of the disease was 46.2 months. Adalimumab (Humira®) was indicated in case of 13 patients (68.4%) and etanercept (Enbrel®) to 6 (31.5%). The most indicated scheme was a dose of 13-valent pneumococcal conjugate vaccine (PCV13) followed at 8 weeks by a dose of pneumococcal polysaccharide vaccine (PPSV23) in nine (47.3%) patients. Seventeen (89.4%) patients were on immunosuppressive treatment at the time of vaccination. Only one patient did not meet the criteria for response to vaccine. Conclusions: The pneumococcal vaccine induces protective levels of serum antibodies in JIA patients undergoing TNFi treatment. The vaccination schedule and the lymphocyte count could influence the response capacity (AU)
Subject(s)
Humans , Male , Female , Adolescent , Arthritis, Juvenile/drug therapy , Pneumococcal Infections/prevention & control , Pneumococcal Vaccines/immunology , Tumor Necrosis Factor-alpha/administration & dosage , Tumor Necrosis Factor-alpha/antagonists & inhibitors , Antibodies, Bacterial/blood , Antibodies, Bacterial/immunology , Cohort StudiesABSTRACT
La medicina china y su cultura ancestral parecen tener los antecedentes más remotos de los intentos por prevenir o curar el azote epidemiológico de esa época: la viruela. Estos conocimientos empíricos llegaron al Asia Central y Europa, y algunos granjeros hicieron observaciones de la utilidad de la inoculación o variolización sin llegar a documentar sus ensayos en la comunidad científica. El mérito de Edward Jenner reconocido como el descubridor de la vacuna antivariólica, radica en haber demostrado con evidencia práctica la protección conferida frente a la enfermedad por la administración en un niño sano de un material proveniente de una persona con lesiones causadas por el cowpox, virus de la viruela vacuna. Desde Europa en el siglo XVIII y comienzos del siglo XIX, la inoculación primero y luego la vacunación llegan a Hispanoamérica por vías informales o por determinación de la corona como un servicio a las colonias. La vacunación antivariólica tuvo el valor agregado de motivar y convencer a las autoridades gubernamentales sobre la necesidad de implementar políticas de salud pública para responder a las necesidades sanitarias de la población. En Chile, Fray Pedro Manuel Chaparro fue el pionero en la aplicación y difusión de la vacuna, realizó la primera campaña nacional y se cuenta entre los padres de la salud pública nacional.
Chinese medicine and its ancestral culture seem to have the most remote history of attempts to prevent or cure the epidemiological scourge of that era: smallpox. This empirical knowledge reached Central Asia and Europe, and some farmers made observations of the usefulness of inoculation or variolization without documenting their trials to the scientific community. The merit of Edward Jenner, recognized as the discoverer of the smallpox vaccine, lies in having demonstrated with practical evidence the protection conferred against the disease by the administration in a healthy child of a material from a person with cowpox lesions. From Europe in the eighteenth and early nineteenth centuries, first inoculation and then vaccination arrive in Latin America by informal means or by determination of the crown as a service to the colonies. Smallpox vaccination had the added value of motivating and convincing government authorities about the need to implement public health policies to respond to the health needs of the population. In Chile, Fray Pedro Manuel Chaparro was the pioneer in the application and diffusion of the vaccine, conducted the first national campaign and is counted among the parents of national public health.
Subject(s)
Humans , History, 18th Century , History, 19th Century , History, 20th Century , Vaccines/history , Vaccination/history , Immunization/history , History of MedicineABSTRACT
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.
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Asthma/complications , Rhinitis, Allergic/complications , Immunologic Deficiency Syndromes/diagnosis , Asthma/immunology , Rhinitis, Allergic/immunology , Immunologic Deficiency Syndromes/complications , Immunologic Deficiency Syndromes/immunologyABSTRACT
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.
Subject(s)
Asthma/complications , Immunologic Deficiency Syndromes/diagnosis , Rhinitis, Allergic/complications , Adolescent , Asthma/immunology , Child , Child, Preschool , Female , Humans , Immunologic Deficiency Syndromes/complications , Immunologic Deficiency Syndromes/immunology , Male , Rhinitis, Allergic/immunologyABSTRACT
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.
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Young Adult , Immunoglobulin E/immunology , Skin Tests/methods , Latex Hypersensitivity/epidemiology , Logistic Models , Prevalence , Multivariate Analysis , Retrospective Studies , Risk Factors , Latex Hypersensitivity/diagnosis , Latex Hypersensitivity/etiology , Hospitals, PediatricABSTRACT
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.
Subject(s)
Immunoglobulin E/immunology , Latex Hypersensitivity/epidemiology , Skin Tests/methods , Adolescent , Child , Child, Preschool , Female , Hospitals, Pediatric , Humans , Latex Hypersensitivity/diagnosis , Latex Hypersensitivity/etiology , Logistic Models , Male , Multivariate Analysis , Prevalence , Retrospective Studies , Risk Factors , Young AdultABSTRACT
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.
Subject(s)
Granulomatous Disease, Chronic/diagnosis , Molecular Diagnostic Techniques/methods , Phagocytes/metabolism , Adolescent , Child , Female , Genetic Counseling/methods , Granulomatous Disease, Chronic/genetics , Granulomatous Disease, Chronic/physiopathology , Humans , Infant , MaleABSTRACT
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...
Subject(s)
Humans , Adolescent , Child, Preschool , Child , Arthritis, Juvenile/diagnosis , Arthritis, Juvenile/therapy , ChileABSTRACT
La enfermedad de Kawasaki (EK) es una enfermedad febril, multisistémica propia de la infancia, caracterizada por una artritis necrotizante, de curso autolimmitado, pero potencialmente fatal. Uno de los principales problemas actuales es la demora en el diagnóstico, relacionándose con un peor pronóstico pos las secuelas a nivel de vasos coronarios.
Subject(s)
Humans , Male , Adolescent , Female , Infant, Newborn , Infant , Child, Preschool , Child , Mucocutaneous Lymph Node Syndrome/epidemiology , Chile/epidemiology , Risk Factors , Signs and Symptoms , Mucocutaneous Lymph Node Syndrome/diagnosisABSTRACT
OBJECTIVE: To evaluate the healthcare and economic impact of routine hepatitis A vaccination of toddlers in Chile. METHODS: We used a dynamic model of hepatitis A infection to evaluate the impact of a two-dose vaccination program, administered at ages 12 and 18 months. The model incorporated the changing epidemiology of hepatitis A in Chile and the development of vaccine-induced herd immunity. Our analysis was conducted from the public payer perspective, and an estimation of the societal perspective was performed. Costs are expressed in 2005 U.S. dollars. RESULTS: Vaccination of toddlers rapidly reduced the healthcare burden of hepatitis A. In the base case (95% vaccination coverage, 100-year time horizon, 1% annual decrease in force of infection), the average number of infections fell by 76.6% annually, and associated deaths fell by 59.7%. Even at 50% coverage, the program reduced infection rates substantially. Routine vaccination of toddlers had economic as well as health benefits, saving $4,984 per life-year gained (base case scenario). The program became cost saving after 6 years, and its overall cost-effectiveness per life-year gained was largely unaffected by changes in disease-related costs, herd immunity, coverage rate, and annual decrease in force of infection. CONCLUSIONS: Routine vaccination of toddlers will reduce the rates of symptomatic hepatitis A and associated mortality. The two-dose schedule evaluated here will be less expensive than disease-related costs in the absence of vaccination from the sixth year of its implementation. These findings support the establishment of a routine vaccination program for toddlers in Chile.
Subject(s)
Hepatitis A Vaccines/administration & dosage , Hepatitis A/economics , Hepatitis A/prevention & control , Immunization/statistics & numerical data , Preventive Health Services/economics , Universal Health Insurance/economics , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Chile/epidemiology , Cost-Benefit Analysis , Demography , Female , Hepatitis A/epidemiology , Hepatitis A Vaccines/economics , Humans , Infant , Infant, Newborn , Male , Middle Aged , Models, TheoreticalABSTRACT
OBJECTIVE: To evaluate the healthcare and economic impact of routine hepatitis A vaccination of toddlers in Chile. METHODS: We used a dynamic model of hepatitis A infection to evaluate the impact of a two-dose vaccination program, administered at ages 12 and 18 months. The model incorporated the changing epidemiology of hepatitis A in Chile and the development of vaccine-induced herd immunity. Our analysis was conducted from the public payer perspective, and an estimation of the societal perspective was performed. Costs are expressed in 2005 U.S. dollars. RESULTS: Vaccination of toddlers rapidly reduced the healthcare burden of hepatitis A. In the base case (95 percent vaccination coverage, 100-year time horizon, 1 percent annual decrease in force of infection), the average number of infections fell by 76.6 percent annually, and associated deaths fell by 59.7 percent. Even at 50 percent coverage, the program reduced infection rates substantially. Routine vaccination of toddlers had economic as well as health benefits, saving $4 984 per life-year gained (base case scenario). The program became cost saving after 6 years, and its overall cost-effectiveness per life-year gained was largely unaffected by changes in disease-related costs, herd immunity, coverage rate, and annual decrease in force of infection. CONCLUSIONS: Routine vaccination of toddlers will reduce the rates of symptomatic hepatitis A and associated mortality. The two-dose schedule evaluated here will be less expensive than disease-related costs in the absence of vaccination from the sixth year of its implementation. These findings support the establishment of a routine vaccination program for toddlers in Chile.
OBJETIVO: Evaluar el impacto sanitario y económico de la vacunación sistemática de infantes contra la hepatitis A en Chile. MÉTODOS: Se empleó un modelo dinámico de hepatitis A para evaluar el impacto de un programa de vacunación de dos dosis administradas a los 12 y 18 meses. El modelo incorporó la epidemiología cambiante de la hepatitis A en Chile y la aparición de la inmunidad de grupo inducida por la vacuna. El análisis se realizó desde la perspectiva del financiador público y se hizo un estimado desde la perspectiva de la sociedad. Los costos se expresaron en dólares estadounidenses del año 2005. RESULTADOS: La vacunación de los infantes redujo rápidamente la carga de la hepatitis A para los servicios de salud. En la variante de base (cobertura de la vacunación: 95 por ciento; horizonte temporal: 100 años; reducción anual de la virulencia de la infección: 1 por ciento), el número promedio de casos se redujo anualmente en 76 por ciento y el número de muertes asociadas disminuyó en 59,7 por ciento. Incluso con una cobertura de vacunación de 50 por ciento, el programa redujo notablemente la tasa de infección. La vacunación sistemática de los infantes presentó beneficios económicos y sanitarios y ahorró US$ 4 984,00 por año de vida ganado (en el escenario base). El programa generó ahorros a partir del sexto año y la efectividad general en función del costo por año de vida ganado no se afectó por cambios en los costos relacionados con la enfermedad, la inmunidad de grupo, la cobertura de vacunación o la reducción anual de la virulencia de la infección. CONCLUSIONES: La vacunación sistemática de los infantes reduciría la tasa de hepatitis A sintomática y la mortalidad asociada. A partir del sexto año del programa, los costos de aplicar el esquema evaluado de dos dosis serían menores que los relacionados con la enfermedad si no se aplicara la vacuna. Estos resultados apoyan la implantación de programas de vacunación sistemática de infantes...
Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Middle Aged , Hepatitis A Vaccines/administration & dosage , Hepatitis A/economics , Hepatitis A/prevention & control , Immunization/statistics & numerical data , Preventive Health Services/economics , Universal Health Insurance/economics , Chile/epidemiology , Cost-Benefit Analysis , Demography , Hepatitis A Vaccines/economics , Hepatitis A/epidemiology , Models, TheoreticalABSTRACT
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.
Subject(s)
Humans , Child , Arthritis, Juvenile/therapy , Algorithms , Arthritis, Juvenile/classification , Arthritis, Juvenile/diagnosis , Arthritis, Juvenile/epidemiology , Practice Guidelines as Topic , Prognosis , Risk FactorsABSTRACT
Ya que las infecciones respiratorias infantiles son muy frecuentes, se ha intentado prevenirlas de diferentes formas, por ejemplo estimulando el sistema inmune del niño. Actualmente existe disponibilidad de medicamentos, cuyas características farmacológicas se describen en este artículo.
Subject(s)
Humans , Child , Adjuvants, Immunologic/administration & dosage , Respiratory Tract Infections/prevention & control , Respiratory Tract Infections/drug therapy , Administration, Oral , Adjuvants, Immunologic/pharmacology , Respiratory Tract Infections/immunologyABSTRACT
This is the second report on the continuing efforts of LAGID to increase the recognition and registration of patients with primary immunodeficiency diseases in 12 Latin American countries: Argentina, Brazil, Chile, Colombia, Costa Rica, Honduras, Mexico, Panama, Paraguay, Peru, Uruguay, and Venezuela. This report reveals that from a total of 3321 patients registered, the most common form of primary immunodeficiency disease was predominantly antibody deficiency (53.2%) with IgA deficiency reported as the most frequent phenotype. This category was followed by 22.6% other well-defined ID syndromes, 9.5% combined T- and B-cell inmunodeficiency, 8.6% phagocytic disorders, 3.3% diseases of immune dysregulation, and 2.8% complement deficiencies. All countries that participated in the first publication in 1998 reported an increase in registered primary immunodeficiency cases, ranging between 10 and 80%. A comparison of the estimated minimal incidence of X-linked agammaglobulinemia, chronic granulomatous disease, and severe combined immunodeficiency between the first report and the present one shows an increase in the reporting of these diseases in all countries. In this report, the estimated minimal incidence of chronic granulomatous disease was between 0.72 and 1.26 cases per 100,000 births in Argentina, Chile, Costa Rica, and Uruguay and the incidence of severe combined immunodeficiency was 1.28 and 3.79 per 100,000 births in Chile and Costa Rica, respectively. However, these diseases are underreported in other participating countries. In addition to a better diagnosis of primary immunodeficiency diseases, more work on improving the registration of patients by each participating country and by countries that have not yet joined LAGID is still needed.
Subject(s)
Immunologic Deficiency Syndromes/epidemiology , Registries , Birth Rate , Data Collection , Demography , Female , Humans , Immunologic Deficiency Syndromes/classification , Immunologic Deficiency Syndromes/immunology , Latin America/epidemiology , Male , Phenotype , Prevalence , Surveys and QuestionnairesABSTRACT
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.
Subject(s)
Frameshift Mutation/genetics , Granulomatous Disease, Chronic/genetics , Membrane Glycoproteins/genetics , Mutagenesis, Insertional/genetics , NADPH Oxidases/genetics , Case-Control Studies , Child , Child, Preschool , Chile , Granulomatous Disease, Chronic/diagnosis , Humans , Male , NADPH Oxidase 2 , RNA Splice Sites , Sequence Analysis, DNAABSTRACT
BACKGROUND: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by early onset of recurrent and severe infections. The molecular defects causing CGD are heterogeneous and lead to absence, low expression, or malfunctioning of one of the phagocyte NADPH oxidase components. The aim of this study was to analyze the clinical features and to investigate the molecular genetic defects of Latin American patients with CGD. PROCEDURES: The study included 14 patients. The diagnosis was based on a history of recurrent severe infections, impaired respiratory burst, and the demonstration of an underlying mutation by single strand conformation polymorphism (SSCP) or RT-PCR analysis, followed by genomic DNA or cDNA sequencing. RESULTS: Seven unrelated patients were found to have the X-linked form of CGD (X-CGD). Heterogeneous mutations affected the CYBB gene: two insertions, one substitution, and four splice site defects; two of them are novel. Seven patients presented with one of the autosomal recessive forms of CGD (A47-CGD); all had the most common mutation, a DeltaGT deletion in exon 2 of the NCF1 gene. Pneumonia was the most frequent clinical feature, followed by pyoderma, sinusitis, otitis, and liver abscess. Patients with X-CGD were more likely to have initial infections before age 2 years and to have inflammatory obstructive granulomas later. None of the patients had severe adverse reactions to BCG immunization. CONCLUSIONS: X-CGD patients from Latin America showed a high degree of molecular heterogeneity, including two novel mutations. Their clinical characteristics included early onset of infections and eventual obstructive granulomas. A47-CGD represented 50% of the reported cases, a higher prevalence than reported in other series.
