Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
J Inherit Metab Dis ; 31 Suppl 2: S281-5, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18989748

RESUMO

Maple syrup urine disease (MSUD) is a very rare disorder of branched-chain amino acid metabolism. However, it is the most common inborn error of metabolism in the Philippines. We present a retrospective review of 21 patients diagnosed with MSUD between 1999 and 2004. The patients presented clinically between 2 and 14 days of life (mean 5 days) and the diagnosis of MSUD was established between 6 days and 11 months of age (mean 39 days). The classical burnt sugar odour was noted in the majority of patients (81%). The diagnosis of MSUD was initially based on clinical suspicion and confirmed biochemically by measurement of leucine/isoleucine levels by thin-layer chromatography. The acute management included removal of accumulated branched-chain amino acids by peritoneal dialysis in 62% of the patients. Mortality rate of this group of patients was 24% and follow-up rate was 87%. We compared this series with a previously reported series of 26 patients to determine whether diagnosis and the management of MSUD improved over the two periods. Four cases have been diagnosed early since 1992, the majority of whom had the classic form of MSUD with the onset of symptoms in the first two weeks of life. A small subset of patients with early nonspecific symptoms was diagnosed much later owing to a low-level clinical suspicion among clinicians. Overall, however, there appears to be a small but general trend towards earlier diagnosis, reduced mortality and long-term follow up in the later series. Although we are able to diagnose and manage MSUD in the Philippines, we recognize that the clinical outcome remains poor and is due mainly to late referral of cases and inadequate long-term management. In the Philippines, we recommend that all newborns who are considered to be septic, have feeding difficulties, fail to regain their birth weight or present with any other symptoms suggestive of MSUD be evaluated in the first instance by analysis of urine for ketones and if they are positive have blood collected and sent to our laboratory for leucine/isoleucine measurement.


Assuntos
Povo Asiático , Doença da Urina de Xarope de Bordo/diagnóstico , Doença da Urina de Xarope de Bordo/etnologia , Triagem Neonatal , Biomarcadores/sangue , Biomarcadores/urina , Cromatografia em Camada Fina , Diagnóstico Precoce , Feminino , Humanos , Lactente , Recém-Nascido , Isoleucina/sangue , Cetonas/urina , Leucina/sangue , Masculino , Doença da Urina de Xarope de Bordo/mortalidade , Doença da Urina de Xarope de Bordo/terapia , Triagem Neonatal/métodos , Diálise Peritoneal , Fenótipo , Filipinas/epidemiologia , Valor Preditivo dos Testes , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento
2.
Neuropediatrics ; 37(4): 222-8, 2006 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17177148

RESUMO

BACKGROUND: Subacute sclerosing panencephalitis (SSPE) is a chronic and debilitating disease of the central nervous system caused by a latent measles virus infection. Three candidate genes, MxA, IL-4, and IRF-1 genes were shown to be associated with SSPE in Japanese patients. These genes have been suggested to play a role in the establishment of persistent viral infection in the central nervous system. SUBJECTS AND METHODS: Sixty Filipino SSPE patients and 120 healthy control subjects were included in the study. Single nucleotide polymorphisms at promoter regions ( IL-4-590C/T and MXA-88G/T) were screened using PCR-RFLP method. Genotyping was done for GT repeat polymorphism within intron 7 of IRF-1. RESULTS: The TT genotype of MXA, as well as the CT genotype of IL-4, were seen a little more frequently among the SSPE patients as compared to the control subjects. The values though, did not reach statistical significance. IRF-1 analysis did not differ between the two groups. CONCLUSION: Our study failed to demonstrate a significant association between IL-4, MXA, or IRF-1, and SSPE in the Filipino population. Our results might be explained by a greater contribution of environmental factors such as the socio-economic and nutritional factors in the susceptibility of Filipinos to SSPE other than genetic factors.


Assuntos
Proteínas de Ligação ao GTP/genética , Fator Regulador 1 de Interferon/genética , Interleucina-4/genética , Panencefalite Esclerosante Subaguda/genética , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Pré-Escolar , Análise Mutacional de DNA/métodos , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Vírus do Sarampo/patogenicidade , Proteínas de Resistência a Myxovirus , Filipinas/epidemiologia , Polimorfismo de Fragmento de Restrição , RNA Mensageiro/metabolismo , Estudos Retrospectivos , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , Panencefalite Esclerosante Subaguda/sangue
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...