RESUMO
<p><b>OBJECTIVE</b>To study the application of tandem mass spectrometry (MS/MS) in the selective screening of inborn errors of metabolism (IEM) in high risk children and to understand the positive rate and types of IEM.</p><p><b>METHODS</b>MS/MS was used to examine 552 blood samples from high risk cases of IEM who came from 8 hospitals in Shijiazhuang, Hebei Province.</p><p><b>RESULTS</b>Sixty-four children (11.6%) were confirmed with IEM by the MS/MS, including 33 cases of methylmalonic acidemia or propionic acidemias, 2 cases of phenylketonuria, 3 cases of carnitine palmotoyl transferase I deficiency, 1 case of long-chain acyl-CoA dehydrogenase deficiency, 2 cases of medium-chain acyl-CoA dehydrogenase deficiency, 6 cases of maple syrup urine disease, 2 cases of short-chain acyl-CoA dehydrogenase deficiency, 2 cases of glutaric acidemia type I, 2 cases of isovaleric acidemia, 2 cases of homocystinuria, 4 cases of carnitine deficiency, 1 case of tyrosinemia, 1 case of argininosuccinic aciduria, 2 cases of citrullinemia and 1 case of argininemia.</p><p><b>CONCLUSIONS</b>MS/MS can be used to screen and classify IEM.</p>
Assuntos
Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Erros Inatos do Metabolismo , Diagnóstico , Projetos Piloto , Risco , Espectrometria de Massas em Tandem , MétodosRESUMO
Objective To observe effects and mechanisms of insulin on reperfusion injury after cerebral ischemia.Methods Sixty-six male Wistar rats were used in this study.All rats were divided into 3 groups as treated group(A),control group(B) and random sham-operated group(C).Four-vessel occlusion was used to establish global cerebral ischemia reperfusion model in study groups.The treated group were divided into 5 groups(A1-A5) and intraperineally injected with biosynthetic human insulin 2 IU/(kg?d) and 50%glucose 2 g/(kg?d) for 7 days,the blood glucose was monitored in preoperative and postoperative 3,6,12,24 h,and the blood glucose was maintained between 3.5-6.5 mmol/L.These animals of control group were given with saline 2 mL/(kg?d) for 7 days in abdominal cavity.All the rats were killed in the seventh day,brain homogenate was collected for detection of neuron specific enolase(NSE)and nitric oxide(NO).The hippocampus was separated for observation of electronic microscope.Results Concentration of NSE in brain tissue in group C was significantly higher than that of group A and group B,while the level in group A was higher than that of group B.Concentration of NO in group C was lower than that of group A and group B while the level of NO in group A was significantly lower than that of group B.Electron microscope showed that the ultrastructure of sham-operated group was nearly normal,damage degree of hippocampal neuron and gliacyte and capillary was gradually worse from group A1,A2 to A4,the damage degree of group B1,B2 and B4 was serious and there was no difference among them.Conclusion Insulin can really promote recovery of the cerebral injury after ischemia reperfusion.