RESUMO
OBJECTIVE: To better describe the natural history, mode of inheritance, and the epidemiological and clinical features of isolated congenital asplenia, a rare and poorly understood primary immunodeficiency. STUDY DESIGN: A French national retrospective survey was conducted in hospital pediatric departments. A definitive diagnosis of ICA was based on the presence of Howell-Jolly bodies, a lack of detectable spleen, and no detectable cardiovascular malformation. RESULTS: The study included 20 patients (12 males and 8 females) from 10 kindreds neither related to each other nor consanguineous. The diagnosis of ICA was certain in 13 cases (65%) and probable in 7 cases (35%). Ten index cases led to diagnosis of 10 additional cases in relatives. Five cases were sporadic and 15 were familial, suggesting autosomal dominant inheritance. Median age was 12 months at first infection (range, 2-516 months), 11 months at diagnosis of asplenia (range, 0-510 months), and 9.9 years at last follow-up (range, 0.7-52 years). Fifteen patients sustained 18 episodes of invasive bacterial infection, caused mainly by Streptococcus pneumoniae (61%). Outcomes were poor, with 9 patients (45%) dying from fulminant infection. CONCLUSIONS: ICA is more common than was previously thought, with an autosomal dominant inheritance in at least some kindreds. Relatives of cases of ICA should be evaluated for ICA, as should children and young adults with invasive infection.
Assuntos
Baço/anormalidades , Adolescente , Adulto , Criança , Pré-Escolar , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/genética , Feminino , França/epidemiologia , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Linhagem , Estudos Retrospectivos , Adulto JovemRESUMO
OBJECTIVES: To investigate the detection of hepatitis A virus ribonucleic acid in patients with acute liver failure and to assess if the results have any clinical implications for the evolution of acute liver failure in children. Hepatitis A infection, a vaccine-preventable disease, is an important cause of acute liver failure in children in Argentina. Universal vaccination in 1-yr-old children was implemented in June 2005. DESIGN: Observational study in which patients were divided into Group 1 consisting of positive hepatitis A virus ribonucleic acid and Group 2 consisting of negative hepatitis A virus ribonucleic acid. SETTING: Pediatric intensive care unit in National Pediatric Hospital "Dr. J. P. Garrahan," Buenos Aires, Argentina. PATIENTS: Thirty-three patients with the diagnosis of acute liver failure secondary to hepatitis A virus infection and admitted to the Garrahan Pediatric Hospital between September 2003 and September 2005 were enrolled in the study. Twenty of these children were admitted to the pediatric intensive care unit. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Samples for total ribonucleic acid detection and genotyping were obtained from serum and/or stools on admission. We found positive hepatitis A virus ribonucleic acid in 13 patients and negative hepatitis A virus ribonucleic acid in 20 patients. The following clinical variables were evaluated: time of evolution, hospital stay, admission to the pediatric intensive care unit, pediatric intensive care unit stay, time on mechanical ventilation, criteria for orthotopic liver transplantation, and mortality. Characterization of the isolates did not reveal differences related to genotype; all cases were IA. No statistical significance was found as to the variables. However, positive hepatitis A virus ribonucleic acid showed lower percentages of pediatric intensive care unit admissions, criteria for orthotopic liver transplantation, number of orthotopic liver transplantation, and mortality than the group of patients with negative hepatitis A virus ribonucleic acid. CONCLUSIONS: Hepatitis A virus genotyping studies did not show any particularities, all cases were IA and, thus, apparent associations between genotype and the clinical presentation of acute liver failure could not be found.
Assuntos
Genótipo , Vírus da Hepatite A/genética , Vírus da Hepatite A/isolamento & purificação , Hepatite A/diagnóstico , Falência Hepática Aguda/etiologia , RNA/sangue , Adolescente , Argentina/epidemiologia , Criança , Pré-Escolar , Fezes/virologia , Feminino , Hepatite A/epidemiologia , Humanos , Lactente , Unidades de Terapia Intensiva Pediátrica , Falência Hepática Aguda/virologia , Masculino , ObservaçãoRESUMO
OBJECTIVE: To analyze the medical practices and the end-of-life care provided to children admitted to pediatric intensive care units in different parts of the globe. SOURCES: Articles on end-of-life care published during the last 20 years were selected from the PubMed, MEDLINE and LILACS databases, with emphasis on studies of death in pediatric intensive care units in Brazil, Latin America, Europe and North America, using the following keywords: death, bioethics, pediatric intensive care, cardiopulmonary resuscitation and life support limitation. SUMMARY OF THE FINDINGS: Publications on life support limitation (LSL) are concentrated in North America and Europe. In North American pediatric intensive care units there is a greater incidence of LSL (approximately 60%) than in Europe or Latin America (30-40%). These differences appear to be related to cultural, religious, legal and economic factors. Over the last decade, LSL in Brazilian pediatric intensive care units has increased from 6 to 40%, with do not resuscitate orders as the most common method. Also of note is the low level of family participation in the decision-making process. A recent resolution adopted by the Federal Medical Council (Conselho Federal de Medicina) regulated LSL in our country, demystifying a certain apprehension of a legal nature. The authors present a proposal for a protocol to be followed in these cases. CONCLUSIONS: The adoption of LSL with children in the final phases of irreversible diseases has ethical, moral and legal support. In Brazil, these measures are still being adopted in a timid manner, demanding a change in behavior, especially in the involvement of families in the decision-making process.
Assuntos
Cuidados para Prolongar a Vida , Assistência Terminal/ética , Brasil , Criança , Protocolos Clínicos , Ética Médica , Humanos , Unidades de Terapia Intensiva Pediátrica , Internacionalidade , Cuidados para Prolongar a Vida/ética , Cuidados para Prolongar a Vida/normas , Cuidados Paliativos , Padrões de Prática Médica , Ordens quanto à Conduta (Ética Médica) , Assistência Terminal/normas , Suspensão de Tratamento/éticaRESUMO
OBJETIVO: Analisar as práticas médicas e os cuidados de final de vida oferecidos a crianças internadas em unidades de tratamento intensivo pediátrico em diferentes regiões do planeta. FONTES DOS DADOS: Foram selecionados artigos sobre cuidados de final de vida publicados nos últimos 20 anos nas bases de dados PubMed, MEDLINE e LILACS, com ênfase nos estudos sobre morte em unidades de tratamento intensivo pediátrico no Brasil, América Latina, Europa e América do Norte, usando as seguintes palavras-chave: morte, bioética, tratamento intensivo pediátrico, reanimação cardiopulmonar e limitação de suporte de vida. SíNTESE DOS DADOS: Observa-se uma concentração de publicações sobre limitação de suporte de vida (LSV) na América do Norte e Europa. Nas unidades de tratamento intensivo pediátrico norte-americanas, observa-se uma maior incidência de LSV (~ 60 por cento) do que na Europa e América Latina (30-40 por cento). Essas diferenças parecem estar relacionadas a fatores culturais, religiosos, legais e econômicos. Na última década, a LSV em unidades de tratamento intensivo pediátrico brasileiras aumentou de 6 para 40 por cento, sendo a ordem de não reanimar a forma mais freqüente. Destaca-se, ainda, a pequena participação da família no processo decisório. Recente resolução do Conselho Federal de Medicina normatiza a LSV em nosso meio, desmistificando alguns receios de ordem legal. Os autores apresentam uma proposta de protocolo a ser seguido nesta eventualidade. CONCLUSÕES: Adoção de LSV em crianças em fase final de doença irreversível tem amparo ético, moral e legal. No Brasil, essas medidas são ainda adotadas de forma tímida, exigindo uma mudança de comportamento, especialmente no envolvimento da família no processo decisório.
OBJECTIVE: To analyze the medical practices and the end-of-life care provided to children admitted to pediatric intensive care units in different parts of the globe. SOURCES: Articles on end-of-life care published during the last 20 years were selected from the PubMed, MEDLINE and LILACS databases, with emphasis on studies of death in pediatric intensive care units in Brazil, Latin America, Europe and North America, using the following keywords: death, bioethics, pediatric intensive care, cardiopulmonary resuscitation and life support limitation. SUMMARY OF THE FINDINGS: Publications on life support limitation (LSL) are concentrated in North America and Europe. In North American pediatric intensive care units there is a greater incidence of LSL (~ 60 percent) than in Europe or Latin America (30-40 percent). These differences appear to be related to cultural, religious, legal and economic factors. Over the last decade, LSL in Brazilian pediatric intensive care units has increased from 6 to 40 percent, with do not resuscitate orders as the most common method. Also of note is the low level of family participation in the decision-making process. A recent resolution adopted by the Federal Medical Council (Conselho Federal de Medicina) regulated LSL in our country, demystifying a certain apprehension of a legal nature. The authors present a proposal for a protocol to be followed in these cases. CONCLUSIONS: The adoption of LSL with children in the final phases of irreversible diseases has ethical, moral and legal support. In Brazil, these measures are still being adopted in a timid manner, demanding a change in behavior, especially in the involvement of families in the decision-making process.