RESUMO
The timing and yield of metabolic studies for patients with neurodevelopmental disorders is a matter of continuing debate. We determined the yield of additional or repeated metabolic studies in patients with neurodevelopmental disorders. Patients referred to a tertiary diagnostic center for patients with unexplained neurodevelopmental disorders were included. Initial metabolic studies had been performed in most patients (87%) before referral. Additional/repeated metabolic studies were individually tailored. Twelve metabolic diseases of 433 patients studied (2.8%) were diagnosed, despite normal initial metabolic studies before referral. Specific metabolic investigations lead to a greater diagnostic yield in patients with neurodevelopmental disorders.
Assuntos
Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/metabolismo , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/metabolismo , Adolescente , Encefalopatias Metabólicas/diagnóstico , Encefalopatias Metabólicas/genética , Encefalopatias Metabólicas/metabolismo , Criança , Pré-Escolar , Deficiências do Desenvolvimento/genética , Feminino , Humanos , Lactente , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Deficiência Intelectual/metabolismo , Deficiências da Aprendizagem/diagnóstico , Deficiências da Aprendizagem/genética , Deficiências da Aprendizagem/metabolismo , Masculino , Transtornos Mentais/diagnóstico , Transtornos Mentais/genética , Transtornos Mentais/metabolismo , Doenças Metabólicas/genéticaRESUMO
Coronary artery disease is one of the most important causes of death in Western society. Attempts to revascularize the coronary artery by myocardial retroperfusion, direct revascularization from the left ventricle, and bypass surgery have finally led to percutaneous transluminal coronary angioplasty (PTCA) and coronary artery bypass grafting (CABG) as standard treatment for coronary artery disease. Direct revascularization from the left ventricle has already been studied in the late 1960s, but the idea was rejected because of a decrease in flow in combination with a failure of myocardial function. Recently, a left ventricle-to-coronary artery (LV-CA) stent has renewed interest as an alternative procedure when PTCA and CABG are no option. Animal studies showed a change in flow pattern from diastolic coronary inflow at baseline to systolic coronary inflow followed by diastolic regurgitive flow during direct ventricular sourcing, resulting in a coronary flow of 50-75% of baseline flow. Global myocardial function decreased in the same extent as the coronary flow suggesting perfusion-contraction matching. In a recent pilot study in the anaesthetized pig, direct revascularization after acute proximal coronary ligation resulted in sufficient blood supply to the outer layers of the myocardium, however, in the inner layers a metabolic disbalance occurred. Incorporation of a valve-like mechanism to minimize the diastolic regurgitive flow may be necessary to improve the performance of the LV-CA stent. In addition, further research should be done in chronic ischemic animal models in which the effect of the collateral circulation on myocardial perfusion and performance is an important issue.