RESUMO
We report 2 cases of fatal rhabdomyolysis in children carrying an LPIN1 mutations preceded by similar electrocardiogram changes, including diffuse symmetrical high-amplitude T waves. Our report underlines the severity of this disease and the need for active management of episodes of rhabdomyolysis in a pediatric intensive care unit.
Assuntos
DNA/genética , Predisposição Genética para Doença , Mutação , Fosfatidato Fosfatase/genética , Rabdomiólise/genética , Biópsia , Criança , Pré-Escolar , Análise Mutacional de DNA , Diagnóstico Diferencial , Evolução Fatal , Feminino , Seguimentos , Humanos , Masculino , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Proteínas Nucleares , Fosfatidato Fosfatase/metabolismo , Rabdomiólise/diagnóstico , Rabdomiólise/metabolismoRESUMO
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.
Assuntos
Criança , Humanos , Assistência Terminal , Brasil , Protocolos Clínicos , Ética Médica , Unidades de Terapia Intensiva Pediátrica , Internacionalidade , Cuidados para Prolongar a Vida , Cuidados para Prolongar a Vida/normas , Cuidados Paliativos , Padrões de Prática Médica , Ordens quanto à Conduta (Ética Médica) , Assistência Terminal/normas , Suspensão de TratamentoRESUMO
We describe a novel deletion causing (epsilongammadeltabeta) degrees thalassaemia segregating in three generations of a Chilean family of Spanish descent. Heterozygotes for the deletion were all affected by neonatal haemolytic anaemia. The deletion of 152,569 bp extends from 77 kb upstream of the epsilon gene to 31 kb downstream of the beta gene, and includes the entire beta-globin gene cluster and two upstream olfactory receptor genes. Comparison of the sequences of the deletion junction with those of the flanking normal DNA suggests that the deletion results from a non-homologous recombination event. The insertion of 16 'orphan' nucleotides in the deletion junction creates a perfect inverted repeat of 12 nucleotides, forming a 12-bp stem with a four-nucleotide loop that could have contributed to the illegitimate recombination. The 3' breakpoint is located within an L1 family repeat that contains a perfect 160-bp palindrome, and is in close proximity to the 3' breakpoints of five other deletions in the beta cluster - Indian (HPFH-3), Italian (HPFH-4) and Vietnamese GgammaAgamma (deltabeta) degrees HPFH, German and Belgian Ggamma (Alphagammadeltabeta) degrees thalassaemia.