Dental anomalies in non-syndromic orofacial clefts: A clinical approach.

Orofacial clefts (OC) represent some of the most common congenital malformations and affect multiple structures in the craniofacial region. There are a wide range of morphological OC types within the spectrum of both non-syndromic OC (NSOC) and syndromic OC, including cleft lip (CL), cleft lip and palate, (CLP), and cleft palate (CP). Here, we describe the most frequent dental anomalies seen in the permanent dentition of individuals with NSOC, comparing them between the three main cleft types (CL, CLP, and CP). We present these findings from the perspective of prevalence relating to each anomaly, as well as the clinical characteristics and potential impact on the rehabilitation process. The investigation of dental anomalies associated with NSOC is important, helping to expand the phenotypic characterization of NSOC, improve the initial diagnostics, and establish appropriate rehabilitation and counseling.

Identification of Novel Variants in Cleft Palate-Associated Genes in Brazilian Patients With Non-syndromic Cleft Palate Only.

The identification of genetic risk factors for non-syndromic oral clefts is of great importance for better understanding the biological processes related to this heterogeneous and complex group of diseases. Herein we applied whole-exome sequencing to identify potential variants related to non-syndromic cleft palate only (NSCPO) in the multiethnic Brazilian population. Thirty NSCPO samples and 30 sex- and genetic ancestry-matched healthy controls were pooled (3 pools with 10 samples for each group) and subjected to whole-exome sequencing. After filtering, the functional affects, individually and through interactions, of the selected variants and genes were assessed by bioinformatic analyses. As a group, 399 variants in 216 genes related to palatogenesis/cleft palate, corresponding to 6.43%, were exclusively identified in the NSCPO pools. Among those genes are 99 associated with syndromes displaying cleft palate in their clinical spectrum and 92 previously related to cleft lip palate. The most significantly biological processes and pathways overrepresented in the NSCPO-identified genes were associated with the folic acid metabolism, highlighting the interaction between LDL receptor-related protein 6 (LRP6) and 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR) that interconnect two large networks. This study yields novel data on characterization of specific variants and complex processes and pathways related to NSCPO, including many variants in genes of the folate/homocysteine pathway, and confirms that variants in genes related to syndromic cleft palate and cleft lip-palate may cause NSCPO.

Machine learning in prediction of genetic risk of nonsyndromic oral clefts in the Brazilian population.

OBJECTIVES: Genetic variants in multiple genes and loci have been associated with the risk of nonsyndromic cleft lip with or without cleft palate (NSCL ± P). However, the estimation of risk remains challenge, because most of these variants are population-specific rendering the identification of the underlying genetic risk difficult. Herein we examined the use of machine learning network in previously reported single nucleotide polymorphisms (SNPs) to predict risk of NSCL ± P in the Brazilian population. MATERIALS AND METHODS: Random forest and neural network methods were applied in 72 SNPs in a case-control sample composed by 722 NSCL ± P and 866 controls for discrimination of NSCL ± P risk. SNP-SNP interactions and functional annotation biological processes associated with the identified NSCL ± P risk genes were verified. RESULTS: Supervised random forest decision trees revealed high scores of importance for the SNPs rs11717284 and rs1875735 in FGF12, rs41268753 in GRHL3, rs2236225 in MTHFD1, rs2274976 in MTHFR, rs2235371 and rs642961 in IRF6, rs17085106 in RHPN2, rs28372960 in TCOF1, rs7078160 in VAX1, rs10762573 and rs2131960 in VCL, and rs227731 in 17q22, with an accuracy of 99% and an error rate of approximately 3% to predict the risk of NSCL ± P. Those same 13 SNPs were considered the most important for the neural network to effectively predict NSCL ± P risk, with an overall accuracy of 94%. Multivariate regression model revealed significant interactions among all SNPs, with an exception of those in FGF12 and MTHFD1. The most significantly biological processes for selected genes were those involved in tissue and epithelium development; neural tube closure; and metabolism of methionine, folate, and homocysteine. CONCLUSIONS: Our results provide novel clues for genetic mechanism studies of NSCL ± P and point out for a machine learning model composed by 13 SNPs that is capable of predicting NSCL ± P risk. CLINICAL RELEVANCE: Although validation is necessary, this genetic panel can be useful in the near future to assist in NSCL ± P genetic counseling.

Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP)--Part 1: overall aspects.

Cleft lip and palate is the most common among craniofacial malformations and causes several esthetic and functional implications that require rehabilitation. This paper aims to generally describe the several aspects related to this complex pathology and the treatment protocol used by the Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC-USP) along 40 years of experience in the treatment of individuals with cleft lip and palate.

Fluoride concentrations in industrialized beverages consumed by children in the city of Bauru, Brazil.

UNLABELLED: The increasing consumption of juices, soft drinks and teas among children has increased significantly fluoride ingestion at the age range of risk for development of dental fluorosis. OBJECTIVE: The purpose of this study was to evaluate fluoride concentrations in some brands of industrialized beverages consumed by children in the city of Bauru, SP, Brazil. MATERIAL AND METHODS: 98 brands of beverages were analyzed, divided into 3 lots, comprising 36, 32 and 30 brands, respectively, for the first, second and third lots. Fluoride concentrations were determined by HMDS-facilitated diffusion, using a fluoride ion-specific electrode (Orion 9409). RESULTS: Fluoride concentrations ranged between 0.04 and 1.76 microg F/mL. It was observed a wide variation in fluoride concentrations among the different brands, as well as the different lots of the same brand. There was no information on fluoride concentrations on the labels of any product. CONCLUSIONS: Some of the products analyzed could contribute significantly to the total fluoride intake and, thus, be important risk factors for development of dental fluorosis, which indicates the need of controlling the production of these beverages with respect to fluoride concentration.

Evaluation of oral health knowledge and oral health status in mothers and their children with cleft lip and palate.

OBJECTIVE: To assess the oral health knowledge of mothers of children with cleft lip and/or palate, analyzing the practical application of this information on the basis of the oral hygiene of the children and caries prevalence of mothers and children. DESIGN: Cross-sectional. SETTING: Pediatric Dentistry sector of the Hospital for Rehabilitation of Craniofacial Anomalies. PATIENTS: Mothers (n = 300) and their children with cleft lip and/or palate, ages 3 years to 5 years 6 months. MATERIALS AND METHODS: An interview with questions related to dietary habits and oral health knowledge and habits was conducted. Children and their mothers also were evaluated by intraoral clinical examination. RESULTS: Of the mothers, 47.3% displayed poor oral health status (Group A) and 52.7% had a satisfactory oral health status (Group B). Children in Group A presented a mean dmft of 6.0, whereas children in Group B had a mean dmft of 5.6. No significant differences were observed between groups. Mothers demonstrated a reasonable knowledge on prevention of dental caries and oral hygiene. CONCLUSION: Even though the mothers interviewed had some knowledge on the causes and prevention of dental caries, other factors should be regarded as relevant in the caries process.

Oral findings in patients with Apert syndrome.

INTRODUCTION: The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. Most investigations available on the Apert syndrome address the genetic aspect or surgical management, with little emphasis on the oral aspects. OBJECTIVE: To investigate the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and soft tissue alterations, in subjects with Apert syndrome. MATERIALS AND METHODS: Clinical and radiographic examination of nine patients with Apert syndrome, aged 6 to 15 years, not previously submitted to orthodontic or orthognathic treatment. RESULTS: Dental anomalies were present in all patients, with one to eight anomalies per individual. The most frequent anomalies were tooth agenesis, mainly affecting maxillary canines, and enamel opacities (44.4% for both). Ectopic eruption of maxillary first molars was found in 33.3% of patients; lateral palatal swellings were observed in 88.8% of patients. CONCLUSIONS: The occurrence of typical lateral palatal swellings agrees with the literature. The high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the syndrome.

Intracanal reinforcement fiber in pediatric dentistry: a case report.

A technique for the restoration of carious primary maxillary incisors using indirect resin composite crowns and intracanal reinforcement fiber is described. Endodontic treatment was previously performed on each tooth. The advantages of using an intracanal reinforcement fiber include resin composite crown reinforcement, translucency, and relative manipulation facility. In addition, the use of indirect resin composite crowns provides good shape and esthetics, as well as reduced chair time for the child. The technique is illustrated in a case report in which indirect resin composite crowns and an intracanal reinforcement fiber are placed in a 3-year-old girl.

Breast-feeding and sugar intake in babies with cleft lip and palate.

OBJECTIVE: To investigate the pattern of breast-feeding and sugar intake among babies with cleft lip and palate. PARTICIPANTS: Caretakers of 200 babies with cleft lip and palate enrolled at the Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil. RESULTS: A low prevalence of breast-feeding was found. The most reported reason was the sucking inability of the baby. Complete cleft lip and palate was the primary cause affecting sucking. The first contact with sugar occurred mainly through the baby bottle with milk during the first month of life. For nutritional supplement, the children were given sugar and fruit juices in the bottle. CONCLUSIONS: It was observed that dietary habits in babies with cleft lip and palate are more risky. This highlights the role played by early education and constant oral hygiene follow-up for prevention in these patients.