ABSTRACT
OBJETIVO: Realizar un análisis retrospectivo de pacientes pediátricos sometidos a reconstrucciones con injertos libres microvasculares del territorio maxilofacial en el Hospital Luis Calvo Mackenna entre los años 2014 y 2018. MATERIALES Y MÉTODO: Se realizó un análisis de los casos reconstruidos entre los años indicados. RESULTADOS: Un total de 11 pacientes fueron incluidos en la muestra, 7 hombres y 4 mujeres. El rango de edad de los pacientes fue entre 3 a 17 años (media 10,1). Siete colgajos de fíbula, 3 dorsales y 1 anterolateral de muslo fueron utilizados para reconstrucción. La tasa de éxito de los colgajos fue de un 100%. Discusión: Se realizó una discusión de los colgajos y sus principales indicaciones en pediatría y se compararon los resultados de la revisión con los casos reportados. CONCLUSIÓN: El estudio preoperatorio, una adecuada planificación, la rehabilitación de la oclusión dentaria, la reconstrucción simétrica y mantener el contorno facial deben ser objetivos de la reconstrucción.
AIM: Carry out a retrospective analysis of pediatric patients undergoing reconstructions with free micro-vascular grafts of the maxillofacial territory at the Luis Calvo Mackenna Hospital during the years 2014 and 2018. MATERIALS AND METHOD: Retrospective analysis of the cases reconstructed during the years 2014 and 2018 was made. RESULTS: A total of 11 patients were included in the sample, 7 men and 4 women. The age range of the patients was between 3 to 17 years (mean 10.1 years) . Seven Fibula flaps, 3 dorsal and 1 anterolateral thigh flaps were used for reconstruction. The success rate of the flaps was 100%. DISCUSSION: A discussion of the flaps and their main indications in pediatrics was made and the results of the review were compared with the cases reported. CONCLUSION: The pre-operative study, adequate planning, the rehabilitation of the dental occlusion, the symmetry reconstruction and maintaining the facial contour must be objective of the reconstruction.
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Surgical Flaps/transplantation , Jaw Diseases/surgery , Plastic Surgery Procedures/methods , Microsurgery/methods , Jaw Neoplasms/surgery , Retrospective Studies , Treatment Outcome , Fibula/transplantation , Mandible/surgeryABSTRACT
Phenylketonuria (PKU, OMIM 261600) is an autosomal recessive disease, caused by mutations in the Phenylalanine Hydroxylase (PAH) gene situated in chromosome 12q22-q24.2. This gene has 13 exons. To date, 991 mutations have been described. The genotype is one of the main factors that determine the phenotype of this disease. OBJECTIVE: Characterize PKU genotype and phenotype seen in Chilean PKU patients. METHODS: We studied the PAH gene by restriction fragment length polymorphism (RFLP) and/or sequencing techniques to identify pathogenic mutations in 71 PKU subjects. We classified the phenotype according to Guldberg predicted value. RESULTS: We identified 26 different mutations in 134 of the 142 alleles studied (94.4%), 88.7% of the subjects had biallelic pathogenic mutations while 11.3% had only one pathogenic mutation identified. Compound heterozygous represented 85.9% of the cases. Exon 7 included the majority of mutations (26.9%) and 50% of mutations were missense. The most frequent mutations were c.1066-11G > A, c.442-?_509+?del and p.Val388Met. The majority of subjects (52.3%) had the classic phenotype. CONCLUSIONS: The most frequent mutations in our Chilean PKU population were p.Val388Met, c.442?_509+?del and c.1066-11G > A. It is possible to predict phenotype by detecting the genotype, and use this information to determine disease prognosis and adjust patient's medical and nutritional management accordingly.
