Anatomical positions of the inferior dental canal and its relationship with impacted lower third molars in 18-to 29-year-old Ecuadorians

The third molars are the dental organs with the most variations in terms of their formation and time of eruption, which can cause several pathologies. The incidence of third molar impaction varies between 20% and 30%, with predominance in females. Through the inferior dental canal, goes the inferior dental nerve to innervate the molars and lower premolars. Recent studies on variations in the position of the lower dental canal have shown a low incidence of variations. Objective: To determine the prevalence of anatomical variations of the inferior dental canal in relation to impacted lower third molars, by means of digital image analysis in patients who attended the X-Ray Imaging Center in Azogues in 2016. Materials and Methods: A cross-sectional study was conducted on patients who attended the center X-Ray Imaging Center in Azogues in 2016. The following variables were analyzed: sex, age, variation of the position of the inferior dental canal in relation to the third impacted molar, the radiographic details according to the Monaco classification, and tooth position according to the Winter classification. In total, 64 radiographs were analyzed. Results: It was found that 5% of participants showed no relation of the inferior dental canal with the lower third molar, 72% had a relation of the dental canal with the third molar, and 23% presented with absence of the third molar. According to the Winter classification, the prevalence was 53% mesioangular, 18% horizontal, 19% vertical, 6% vestibuloversion, and 4% inverted. Conclusion: The third molars present high indexes of relation with the inferior dental canal in 18- to 29-year-old Ecuadorians

Fenilcetonuria de diagnóstico tardío y mutaciones asociadas en una familia ecuatoriana / Phenylketonuria of late diagnosis and associated mutations in an Ecuadorian family

La fenilcetonuria es un error innato del metabolismo, producido por mutaciones en el gen de la fenilalanina hidroxilasa. Se describe el caso de un adolescente de 15 años con diagnóstico tardío de fenilcetonuria, quien presenta retardo mental severo, convulsiones e hipopigmentación. En este estudio se realizó el diagnóstico molecular de fenilcetonuria y se detectó la mutación p.R252W en homocigosis en el gen que codifica para la fenilalanina hidroxilasa. La presencia de esta variante nos permitió inferir la falta de respuesta a la terapia con sapropterina, medicamento que actúa como cofactor de la enzima, por la ausencia de actividad enzimática residual reportada para esta variante. Debido al retraso psicomotor del paciente, se decidió aplicar terapia lúdica y fortalecimiento muscular a través de la intervención fisioterapéutica; sin embargo, no se observó una mejoría permanente al aplicar este tratamiento, motivado por la falta de continuidad.

Phenylketonuria is an inborn error of metabolism due to mutations on the phenylalanine hydroxylase gene. We described the case of a 15 years old-adolescent with late diagnosis of phenylketonuria, who presents severe mental retardation, convulsions and hypopigmentation. In this study, the molecular diagnosis of phenylketonuria was performed, detecting p.R252W mutation in homozygous state on the phenylalanine hydroxylase gene. The presence of this variant allowed us to infer the lack of response to drug therapy with sapropterina which works as an enzyme cofactor, due to the absence of residual enzymatic activity reported for the p.R252W variant. Physical therapy was applied through playful therapy and muscular strengthening, because of the psychomotor retardation present in the patient. The failing in continuing with the physical therapy program stopped the patient´s improvement.