Browsing by Author "Pantoja, Roberto"

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    Cleft Lip and Palate Midfacial Hypoplasia: Criteria to Choose the Treatment
    (2022) Farina, Rodrigo; Lolas, Jorge; Moreno, Emilio; Alister, Juan Pablo; Uribe, Maria Francisca; Pantoja, Roberto; Valladares, Salvador; Arrue, Camila
    A series of skeletal and dentoalveolar/occlusal criteria were proposed for choosing the treatment modality for the management of midface hypoplasia in cleft lip/palate patients, focusing on functional improvement, aesthetics, and minimizing the risk of recurrence and secondary alterations. For which, 42 patients with nonsyndromic cleft lip/palate, all with previous primary lip/palate surgeries and without previous osteotomies, were analyzed. Orthognathic surgery (OS) (n = 24) and maxillary distraction osteogenesis (n = 18) with anterior segmental osteotomies (segmental distraction osteogenesis [SD]), alveolar transport disc (TD), and midface total distraction osteogenesis (TDO) by modified Le Fort III osteotomy was done. The average of maxillary advancement for OS was 5.58 +/- 0.83 mm, for SD 9.4 +/- 0.89 mm, for TD 8.00 +/- 1.00 mm, and for TDO was 8.13 +/- 1.55 mm. In the presence of infraorbital and/or zygomatic hypoplasia, TDO was performed using skeletal anchorage, with the requirement of occlusal stability in dental cast in occlusion. In short maxillary arch without dental cast feasibility in occlusion, hypodontia/agenesis or absence of premaxilla, TD and SD was performed. There was only 1 mm of recurrence in 1 patient of each group. Changes in speech were detected in 2 patients in the OS group (8.3%). Orthognathic surgery can be indicated for advancements <= 7 mm not requiring orbito-zygomatic advancement, whereas distraction osteogenesis can be indicated for advances >8 mm with or without the need for orbito-zygomatic advancement, in addition with other dentoalveolar factors and velopharyngeal function.
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    Maternal genotypes of folate/one-carbon metabolism gene variants and nonsyndromic cleft lip with or without cleft palate risk in Chile
    (2021) Inostroza, Veronica; Salamanca, Carlos; Recabarren, Andrea S.; Pantoja, Roberto; Leiva, Noemi; Pardo, Rosa; Suazo, Jose
    The aim of this study was to evaluate, in a case-control design, the association between maternal genotypes for variants in 23 genes involved in folate/one-carbon metabolism and nonsyndromic cleft lip with or without cleft palate (NSCL/P) in a Chilean population. After applying several filters to an Illumina array, we extracted 175 single nucleotide polymorphisms (SNPs) from 150 mothers of NSCL/P cases and 150 control women. Association was evaluated using computed odds ratio (OR) with a 95% confidence interval (95% CI) in additive, recessive, and dominant models. After multiple comparison correction, only SNP rs4451422 (A>C), located 237 bp downstream of the gene encoding the human folylpolyglutamate synthetase (FPGS), maintained a significant association with NSCL/P in the offspring (OR 3.03; 95% CI 1.69-5.26). The variant rs4451422 is associated with a decrease in FPGS expression according to database annotation. Our results lead to a new hypothesis that a lower activity of FPGS enzyme reduces intracellular folate levels and increases the risk of an offspring having NSCL/P.
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    Nonsyndromic orofacial clefts in Chile: LINE-1 methylation and MTHFR variants
    (2020) Cáceres Rojas, Gabriela; Salamanca, Carlos; Krause, Bernardo J.; Recabarren, Andrea S.; Pantoja, Roberto; Leiva, Noemi; Pardo, Rosa; Santos Martín, José Luis; Suazo, José
    Aim: To evaluate the risk of nonsyndromic orofacial clefts (NSOFCs) associated with LINE-1 methylation, as a marker of global DNA methylation, and the effect of MTHFR functional variants on this variable. Patients & methods: LINE-1 methylation was evaluated by bisulfite modification coupled to DNA pyrosequencing in 95 NSOFC cases and 95 controls. In these subjects, MTHFR genotypes for variants c.C677T (rs1801133) and c.A1298C (rs1801131) were obtained. Results: Middle levels (second tertile) of LINE-1 methylation increase the risk of NSOFCs. In addition, LINE-1 methylation depends on c.A1298C genotypes in controls but not in cases. Conclusion: A nonlinear association between global DNA methylation and NSOFCs was detected in this Chilean population, which appears to be influenced by MTHFR functional variants.