ABSTRACT
Introducción: la Comunicación Oroantral (COA) es el espacio que se crea entre el seno maxilar y la cavidad oral, la cual si no es tratada progresará a una Fístula Oroantral (FOA) o enfermedad sinusal crónica. El factor predisponente más común de una COA es la extracción de los dientes superiores posteriores (generalmente el primer o segundo molares). El objetivo de este estudio fue realizar una revisión de literatura con énfasis en implicaciones clínicas y las alternativas de tratamiento de una COA por medio de una actualización y revisión de información de interés. Métodos: se llevó a cabo una revisión de literatura por medio de una recolección y análisis de bibliografía de las comunicaciones oroantrales y la comparación y alternativas de tratamiento. Discusión: se han propuesto diversas técnicas para el manejo de una COA, entre las cuales se encuentran los colgajos locales, así como el uso de biomateriales, los cuales han dado resultados favorables en el cierre del defecto. Conclusión: el tratamiento de una COA tiene como propósito revenir su avance a una FOA, el desarrollo de sinusitis y/o que el defecto se acrecente; para ello, el clínico debe estar familiarizado con las diversas técnicas con base a la necesidad del paciente.
Introduction: the Oroantral Communication (OAC) is the space that is created between the maxillary sinus and the oral cavity, which if not treated will progress to an Oroantral Fistula (OAF) or chronic sinus disease. The most common predisposing factor for a COA is the extraction of the upper posterior teeth (usually the first or second molars). The aim of this study was to carry out a literature review with emphasis on clinical implications and treatment alternatives of a COA through an update and review of information of interest. Methods: a literature review was carried out through a collection and analysis of bibliography of oroantral communications and the comparison and treatment alternatives. Discussion: various techniques have been proposed for the management of an AOC, among which are local flaps, as well as the use of biomaterials, which have given favorable results in closing the defect. Conclusion: the treatment of an AOC has as purpose to prevent its progression to an AFO, the development of sinusitis and/or that the defect increases; To do this, the clinician must be familiar with the various techniques based on the patient's needs.
ABSTRACT
Biallelic mutations of the GCDH gene result in Glutaric Aciduria type 1 (GA1; OMIM #231670), an uncommon autosomal recessive inborn error caused by the deficiency of glutaryl-CoA dehydrogenase (CCDH), a mitochondrial matrix protein involved in the degradation of l-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic deficiency leads to the accumulation of neurotoxins causing macrocephaly at birth, hypotonia and dystonia due to bilateral striatal injury, that evolves with aging, if untreated, to fixed dystonia and akinetic-rigid parkinsonism. In this article, we describe the results of molecular studies of 5 unrelated patients with GA1 in Southern Mexico. Mutational analysis identified 2 novel likely pathogenic GCDH variants (p.Leu130Pro and p.Gly391Val), 1 pathogenic variant that is predicted to cause a premature stop codon (p.Leu370*), and 2 previously reported pathogenic variants (p.Arg294Trp and p.Arg294Gln). The recurrence of the p.Leu130Pro variant (60% of mutant alleles) suggested a possible founder mutation effect. Our results expand the mutational spectrum in GA1 patients and support the importance of early diagnosis through newborn screening that promotes early nutritional treatment and prevents metabolic crisis. TAKE HOME MESSAGE: Glutaric Aciduria type 1 has a wide mutational spectrum; the p.Leu130Pro variant may be a founder mutation in Southeast Mexico.
