ABSTRACT
Presentación del caso: se reporta un paciente pediátrico con diagnóstico de hiperglicinemia no cetósica (HNC), enfermedad neurometabólica poco frecuente ocasionada por una deficiencia en el sistema de segmentación de la glicina, codificada por los genes GLDC, GCSH, AMT y GCSL que conduce a niveles elevados de glicina en la sinapsis generando un efecto agonista prolongado en los receptores N-metil-D-aspartato (NMDA). Discusión y conclusiones: se asocia con hipotonía, convulsiones y trastornos de la deglución, los cuales dependerán de la edad de presentación. Se revisa la literatura actual para el abordaje perioperatorio.
Case presentation: we report a child with a diagnosis of non-ketotic hyperglycinemia (NKGH), a rare neurometabolic disease caused by a defect in the glycine cleavage system, encoded by the GLDC, GCSH, AMT and GCSL genes resulting in elevated synaptic glycine levels generating a prolonged agonist effect on N-methyl-D-aspartate (NMDA) receptors. Discussion and conclusions: it is associated with hypotonia, seizures and swallowing disorders, which will depend on the age at presentation. A literature review was conducted to tailor perioperative approach.
Subject(s)
Humans , Male , Infant , Hyperglycinemia, Nonketotic , Propionic Acidemia , Perioperative Period , Deglutition Disorders , Fundoplication , Muscle HypotoniaABSTRACT
No existe una publicación colombiana con seguimiento a mediano plazo acerca del uso de esta técnica.Objetivo: evaluar el tratamiento quirúrgico de la fibrilación auricular a través de radiofrecuencia monopolar irrigada, mediante el seguimiento clínico, electrocardiográfico y ecocardiográfico a corto y mediano plazo. Métodos: entre septiembre de 2003 y octubre de 2005, se evaluaron de manera prospectiva, 70 pacientes con diagnóstico de fibrilación atrial y otra patología cardiaca que requería intervención quirúrgica. Se utilizó el sistema de ablación por radiofrecuencia monopolar Cardioblate (marca registrada) (Medtronic, Inc.). Los resultados se analizaron en un paquete estadístico SPSS versión 1...
There is not any publication about the use of this technique with midterm follow-up in Colombia.bjective: to evaluate the surgical treatment of atrial fibrillation with the use of irrigated monopolar radiofrequency to short and midterm, through clinical follow-up, electrocardiogram and echocardiogram.Methods: 70 patients with diagnosis of atrial fibrillation and some other heart pathology that required surgery were evaluated between September 2003 and October 2005, in a prospective way. An ablation though monopolar radiofrequency (Cardioblate® Medtronic, Inc) was performed. Results were analyzed with the SPSS version 11, 0 statistical package. Results: 70 patients, 52% females and 48% males with mean age 54 years and preoperatory ejection fraction of 47% had mitral insufficiency (49%) and mitral stenosis (26%) as their main cause for primary heart surgery. 87% patients were evaluated at 18 months (3 to 25 months). Sinus rhythm was achieved in 88%. Residual arrhythmias in this group were atrial fibrillation (6%) and atrial flutter (6%). 80% of post-operatory arrhythmias were found in the first 15 days after surgery, being atrial fibrillation and atrial flutter the most common ones. Anticoagulation and anti-arrhythmic medication was suspended in 89% and 90% of the patients, respectively. The surgical technique had no inherent complications. Conclusions: this investigation demonstrated that the surgical ablation of atrial fibrillation with irrigated monopolar radiofrequency is easily reproducible, highly effective and safe for the patient.