RESUMO
Resumen En los últimos meses, se ha comunicado globalmente, un aumento de casos de hepatitis de etiología no precisada. La población más afectada son los niños bajo los 5 años, pero con un rango etario hasta los 16 años. Clínicamente, se presentan con una hepatitis colestásica con pródromos de síntomas digestivos (deposiciones alteradas, náuseas y vómitos) y en que en el estudio etiológico pareciera haber una asociación directa o indirecta con infección por adenovirus. En general, la evolución es benigna, pero cerca de 13% ha requerido ingreso a unidad de cuidados intensivos y 10%, trasplante hepático. Las hipótesis sobre su etiología son varias, la mayoría relacionadas con algún agente infeccioso, ya sea como gatillante o actor principal. No se ha evidenciado hasta ahora la presencia de algún tóxico común ni la inmunización contra SARS-CoV-2 como causa de enfermedad. Se presenta una revisión sobre los datos disponibles a la fecha y posibles hipótesis de la etiopatogenia.
Abstract In recent months there has been an increase in cases reports of hepatitis of unknown origin. The most affected population are children under 5 years of age, but it has been described in adolescents up to 16 years of age. The clinical presentation consists of cholestatic hepatitis with a prodrome of diarrhea, nausea, and vomiting. Prognosis is generally benign but, on average, 13% of patients have required admission to an intensive care unit and 10% a liver transplant. Etiological studies have associated this entity to adenoviral infections, but hypotheses include other infectious agents, either as a triggering factor or as its main etiology, toxins, and even immunizations against SARS-CoV-2. In the following review we present the data available to date regarding the different pathogenesis theories.
RESUMO
Acute respiratory distress syndrome (ARDS) is the most severe form of respiratory failure. Theoretically, any acute lung condition can lead to ARDS, but only a small percentage of individuals actually develop the disease. On this basis, genetic factors have been implicated in the risk of developing ARDS. Based on the pathophysiology of this disease, many candidate genes have been evaluated as potential modifiers in patient, as well as in animal models, of ARDS. Recent experimental data and clinical studies suggest that variations of genes involved in key processes of tissue, cellular and molecular lung damage may influence susceptibility and prognosis of ARDS. However, the pathogenesis of pediatric ARDS is complex, and therefore, it can be expected that many genes might contribute. Genetic variations such as single nucleotide polymorphisms and copy-number variations are likely associated with susceptibility to ARDS in children with primary lung injury. Genome-wide association (GWA) studies can objectively examine these variations, and help identify important new genes and pathogenetic pathways for future analysis. This approach might also have diagnostic and therapeutic implications, such as predicting patient risk or developing a personalized therapeutic approach to this serious syndrome.
Assuntos
Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Síndrome do Desconforto Respiratório/fisiopatologia , Lesão Pulmonar Aguda , Animais , Variações do Número de Cópias de DNA , Modelos Animais de Doenças , Variação Genética , Humanos , Polimorfismo de Nucleotídeo Único , Prognóstico , Síndrome do Desconforto Respiratório/genética , Fatores de RiscoRESUMO
El síndrome de distrés respiratorio agudo (SDRA) es la forma más grave de falla respiratoria. Teóricamente, cualquier noxa pulmonar aguda puede resultar en un SDRA, pero solo un pequeño porcentaje de individuos desarrolla la enfermedad. Sobre este fundamento, factores genéticos han sido implicados en el riesgo de desarrollar SDRA. Basado en la fisiopatología de esta enfermedad, múltiples genes candidatos han sido evaluados como potenciales modificadores, tanto en pacientes como en modelos animales de SDRA. Datos experimentales y estudios clínicos recientes sugieren que variantes de genes implicados en procesos clave de daño tisular, celular y molecular pulmonar pueden influir en la predisposición y el pronóstico del SDRA. Sin embargo, la patogénesis del SDRA pediátrico es compleja y, en consecuencia, es posible anticipar que muchos genes pueden contribuir a ella. Variantes genéticas, tales como polimorfismos de nucleótido simple y variantes del número de copias, están probablemente asociadas con la predisposición al SDRA en niños con lesión pulmonar primaria. El estudio de asociación del genoma completo (GWAS, del inglés Genome-Wide Association Study) puede examinar estas variantes sin sesgos y ayudar a identificar nuevos genes fundamentales y vías patogénicas clave para futuros análisis. Esta aproximación también puede tener implicancias clínicas diagnósticas y terapéuticas, como predecir el riesgo del paciente o desarrollar un enfoque terapéutico personalizado para este grave síndrome.
Acute respiratory distress syndrome (ARDS) is the most severe form of respiratory failure. Theoretically, any acute lung condition can lead to ARDS, but only a small percentage of individuals actually develop the disease. On this basis, genetic factors have been implicated in the risk of developing ARDS. Based on the pathophysiology of this disease, many candidate genes have been evaluated as potential modifiers in patient, as well as in animal models, of ARDS. Recent experimental data and clinical studies suggest that variations of genes involved in key processes of tissue, cellular and molecular lung damage may influence susceptibility and prognosis of ARDS. However, the pathogenesis of pediatric ARDS is complex, and therefore, it can be expected that many genes might contribute. Genetic variations such as single nucleotide polymorphisms and copy-number variations are likely associated with susceptibility to ARDS in children with primary lung injury. Genome-wide association (GWA) studies can objectively examine these variations, and help identify important new genes and pathogenetic pathways for future analysis. This approach might also have diagnostic and therapeutic implications, such as predicting patient risk or developing a personalized therapeutic approach to this serious syndrome.
Assuntos
Humanos , Animais , Síndrome do Desconforto Respiratório do Recém-Nascido/fisiopatologia , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Prognóstico , Síndrome do Desconforto Respiratório do Recém-Nascido/genética , Variação Genética , Fatores de Risco , Polimorfismo de Nucleotídeo Único , Modelos Animais de Doenças , Lesão Pulmonar Aguda , Variações do Número de Cópias de DNARESUMO
Botulism is a rare disease in Chile and of the known clinical presentation, infant botulism is the most common. We report the case of a previously healthy seven month old male infant with a two weeks history of rinorrea, cough, fatigue, constipation and progressive weakness after the consumption of honey. Stool cultures were positive for Clostridium botulinum group 1 type A and electromyography was compatible with the diagnosis. The patient evolved with arterial hypertension, interpreted as secondary to autonomic dysfunction, which responded to calcium channel blockers. Muscle tone improved progressively during the following four weeks. Infant botulism is a potentially fatal disease; diagnosis can be difficult given the broad clinical manifestations. Prevention should focus on education of parents of infants as well as medical personnel.
Assuntos
Botulismo/diagnóstico , Bloqueadores dos Canais de Cálcio/uso terapêutico , Clostridium botulinum tipo A , Mel/efeitos adversos , Botulismo/tratamento farmacológico , Botulismo/etiologia , Clostridium botulinum tipo A/isolamento & purificação , Eletromiografia , Fezes/microbiologia , Mel/microbiologia , Humanos , Lactente , Masculino , Resultado do TratamentoRESUMO
Botulism is a rare disease in Chile and of the known clinical presentation, infant botulism is the most common. We report the case of a previously healthy seven month oíd male infant with a two weeks history of rinorrea, cough, fatigue, constipation and progressive weakness after the consumption of honey. Stool cultures were positive for Clostridium botulinum group 1 type A and electromyography was compatible with the diagnosis. The patient evolved with arterial hypertension, interpreted as secondary to autonomic dysfunction, which responded to calcium channel blockers. Muscle tone improved progressively during the following four weeks. Infant botulism is a potentially fatal disease; diagnosis can be difficult given the broad clinical manifestations. Prevention should focus on education of parents of infants as well as medical personnell.
El botulismo es un trastorno poco frecuente en nuestro país. De las formas conocidas, el botulismo infantil da cuenta de la mayoría de los casos. Comunicamos el caso clínico de un paciente de siete meses, sexo masculino, sin antecedentes mórbidos. Historia de dos semanas de coriza, tos y decaimiento. Tras la ingesta de miel presentó exacerbación de la sinto-matología respiratoria, constipación y debilidad muscular progresiva. Se analizó muestra de heces resultando positiva para Clostridium botulinum grupo I tipo A. El estudio electromiográñco fue compatible con el diagnóstico. Presentó hipertensión arterial, atribuyéndose a disfunción autonómica, con buena respuesta a bloqueadores de los canales de calcio. Recuperó progresivamente el tono muscular. En un control ambulatorio se apreciaba importante regresión de la sinto-matología. El botulismo infantil es una enfermedad potencialmente letal de no tratarse oportunamente y de difícil diagnóstico, ya que su presentación es similar a otros cuadros clínicos. Es necesario educar a padres y personal médico sobre las medidas de prevención para los lactantes bajo doce meses de edad.
Assuntos
Humanos , Lactente , Masculino , Botulismo/diagnóstico , Clostridium botulinum tipo A , Bloqueadores dos Canais de Cálcio/uso terapêutico , Mel/efeitos adversos , Botulismo/tratamento farmacológico , Botulismo/etiologia , Clostridium botulinum tipo A/isolamento & purificação , Eletromiografia , Fezes/microbiologia , Mel/microbiologia , Resultado do TratamentoRESUMO
ANTECEDENTES: Citomegalovirus (CMV) es la infección congénita más frecuente, demostrado en el 1% de recién nacidos en países desarrollados. Es la primera causa de sordera y alteraciones del desarrollo neuro-lógico infantil. Recientes estudios han demostrado que la seropositividad no evita una reinfección materna ni la enfermedad congénita, por lo que la caracterización de la seroprevalencia permite saber si la infección congénita proviene mayoritariamente de primoinfección o de reinfección. OBJETIVOS: Conocer la seroprevalencia al parto en 583 mujeres beneficiarías del Hospital Padre Hurtado durante mayo y junio del 2006. MÉTODOS: Estudio prospectivo, observacional, en que se estudio la presencia de IgG anti CMV en sangre materna al parto. RESULTADOS: Se obtuvo una seroprevalencia de 95%, sin casos de infección sintomática al nacer. CONCLUSIÓN: La seroprevalencia es elevada, lo que sugiere que la reinfección sería la forma principal de infección congénita. Un estudio en recién nacidos con cultivos virales o PCR permitiría conocer la tasa de infección congénita real, y no un estudio basado en seroconversión pues omitiría todos los casos que reinfección, que serían mayoritarios.
BACKGROUND: Cytomegalovirus is the most frequent congenital infection, affecting 1% of the population in developed countries, and the leading cause of deafness and brain development abnormalities in children. Recent studies have demonstrated that seropositivity do not avoid reinfection and congenital disease. OBJECTIVE: To study the seroprevalence in 583 pregnant women at delivery at Padre Hurtado Hospital, during 2006. METHODS: Prospective, observational study, in which maternal blood at delivery was studied for the presence of anti CMV IgG. RESULTS: There was 95% seroprevalence, without any case of symptomatic infection. CONCLUSION: The high prevalence supports that most of the cases of congenital disease would occur in seropositive women, supporting that reinfection is the main way of neonatal compromise. This supports that a study with direct detection in liveborns would be suitable to reveal the impact of cytomegalovirus in our population and not that of seroconversión.
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Humanos , Feminino , Gravidez , Adolescente , Adulto , Adulto Jovem , Infecções por Citomegalovirus/sangue , Infecções por Citomegalovirus/epidemiologia , Imunoglobulina G/sangue , Estudos Soroepidemiológicos , Chile , Programas de Rastreamento , Reação em Cadeia da Polimerase , Prevalência , Estudos Prospectivos , Idade Gestacional , Infecções por Citomegalovirus/congênito , Citomegalovirus , Hospitais Públicos , Anticorpos Antivirais/sangueRESUMO
The role of Family Medicine as an academic discipline requires a reflection. A definition of Family Medicine is advanced in line with a recent proposal of WONCA Europe including some fundamental aspects in the practice of any family doctor. A set of criteria for considering a medical subject as a discipline is analyzed and discussed with reference to Family Medicine. A unique field of action, an established body of knowledge, a set of analytical techniques, an specific area of research, its own philosophy, and a training which is intellectually rigorous, are all criteria that Family Medicine fulfils. Family Medicine is a medical discipline with a clear definition and it can be consider