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Van der Woude syndrome (VWS) is a rare syndrome of genetic etiology, commonly occasioned by mutations in the IRF6 gene and that causes disorders in craniofacial development. VWS is characterized by the presence of paramedian fistulas in the lower lip and cleft lip and / or cleft palate. Although some dental phenotypes have been reported in this syndrome, multiple and rare hypodontias were not described. Through this case report, we present a case of Van der Woude Syndrome (VWS) with rare and multiple hypodontia in which clinical data and radiographic exams were evaluated. The patient presented hypodontia of eight permanent teeth (lateral incisors, second premolars and second molars). So, when the dentist recognizes multiple and/or rare hypodontias, for an accurate diagnosis, detailed examination of the lower lip is indicated, as well as a survey of the family history and referral for genetic counseling, since the syndrome presents high penetrance. The patient is expected to be rehabilitated to have a good quality of life. Rehabilitation in these cases requires alveolar bone graft, orthodontics and prosthesis to replace missing teeth.

Purpose: The purpose of this study was to conduct a critical literature review on oral conditions and dental phenotypes described in patients with Syndromic Pierre Robin Sequence (SPRS). The review of theMaterials and Methods: literature on oral conditions and dental phenotypes was performed in patients with SPRS through an active search in three databases, PubMed, Medline and SciELO, using the descriptors: “Dental Abnormalities”, “Tooth Abnormalities”, “Oral Diagnosis”, “Dentistry”, “Oral Health”, combined with: “Pierre Robin Syndrome”, “Mandibulofacial Dysostosis”, “22q11 Deletion Syndrome”, and “Stickler”. For the selection of manuscripts, papers published between 2014 and 2022 were analyzed according to the inclusion criteria. Were selected 7 studiesResults: addressing dental conditions or dental anomalies in SPRS in the 3 syndromes chosen: 22q11.2 Deletion Syndrome (22q11.2 DS), Treacher Collins Syndrome (TCS) and Stickler Syndrome (SS). In the 3 studies on 22q.11 DS, it was observed that the most reported anomalies were dental agenesis, impacted canine, enamel hypoplasia and supernumerary tooth, respectively. In studies on TCS, with a reduced number of subjects, dental crowding and occlusal changes were the most common oral conditions. No study addressed the dental phenotypes of SS. Conclusions: The importance of further studies on this specic topic is emphasized, since SPRS involves micrognathia and mandibular retroposition. Thus, these clinical ndings can be valuable for all professionals who provide assistance to these patients. Thus, based on this knowledge, it is possible to plan more effective rehabilitation, contributing to improving the quality of life of these individuals.

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.

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. 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. 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. 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. Although validation is necessary, this genetic panel can be useful in the near future to assist in NSCL ± P genetic counseling.

Resumen Introducción: El oscurecimiento de un diente anterior interfiere negativamente en el aspecto de la sonrisa, y varias son las causas que pueden ser responsables por este oscurecimiento. Objetivo: Describir las técnicas de blanqueamiento mixto e inmediato a través del reporte de dos casos clínicos. Caso 1: Individuo de sexo masculino, con Síndrome de Treacher Collins, se quejó sobre alteración cromática del diente 33, verificada mediante examen clínico, radiográficamente presencia de tratamiento endodóntico satisfactorio. Por lo que fue planeado el blanqueamiento interno mediante técnica mixta. Caso 2: Individuo de sexo masculino, con Síndrome de Apert reportó cambio cromático en el diente 22, observado en el examen clínico, radiográficamente presentando tratamiento endodóntico insatisfactorio. Se realizó retratamiento endodóntico y a los 6 meses se realizó blanqueamiento interno mediante técnica inmediata. Conclusión: El blanqueamiento dental ejecutado con las técnicas mixtas e inmediatas, devuelve la armonía de la sonrisa, recuperando el color ideal y elevando la autoestima a los pacientes.

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.

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.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.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.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.Although validation is necessary, this genetic panel can be useful in the near future to assist in NSCL ± P genetic counseling.

Objective Subjects with cleft lip and palate (CLP) present high prevalence of dental agenesis. Among candidate genes for these phenotypes is IRF6. However, genetic studies do not analyze dental agenesis as a phenotype associated with cleft. Therefore, we investigated the frequency of rare and novel variations in IRF6 in subjects with non-syndromic unilateral cleft lip and palate (NSUCLP), with and without dental agenesis. Subjects and methods Genomic DNA samples of 100 subjects with NSUCLP with and without dental agenesis and 50 controls were sequenced. IRF6 mutational screening was conducted by direct sequencing. Results Ten new and rare missense variations were identified, two in the group cleft with agenesis and eight in the group cleft without agenesis, and none were found in control group. In silico analysis revealed four variations as potentially deleterious, being two in the group with cleft and agenesis and two in the group with cleft without agenesis. Conclusion The study identified novel IFR6 variations in subjects with NSUCLP with or without associated dental agenesis. The hypothesis of a higher frequency of deleterious variations in the subjects with cleft associated with dental agenesis, when compared to the group of cleft without agenesis and control without cleft, was not supported.

The objective was to investigate dental phenotypes in individuals with non-syndromic Pierre Robin Sequence (ns-PRS) and compare the prevalence of these phenotypes with subjects with non-syndromic cleft palate (ns-CP) and a control group with subjects without any craniofacial anomalies.A total of 760 panoramic radiographs of 330 individuals (110 with ns-PRS; 110 with ns-CP and 110 without any malformations) were digitized and evaluated regarding the diagnosis of taurodontism, tooth agenesis, root dilaceration and tooth transposition. Chi-square test was applied to compare the occurrence of dental phenotypes between groups. A P value of less than 0.05 was considered statistically significant.Total prevalence of dental phenotypes was 94.5% of ns-PRS; 54.5% of ns-CP and 59.1% of the control group subjects with a statistically significant difference for the ns-PRS when compared to the other two groups. Two dental phenotypes, taurodontism and dental agenesis were identified with statistically significant higher prevalences in subjects with ns-PRS when compared with the ns-CP group and the control group (p 0.001). Taurodontism was the most prevalent dental phenotype, with 92.73% in the ns-PRS group, 40.91% for ns-CP and 44.55% in the control group. Tooth agenesis had a prevalence of 22.7% for ns-PRS, 4.5% for ns-CP and no case in the control group. For the prevalence of root dilaceration and tooth transposition, no statistically significant differences were observed between the three groups.Due to the high frequency of taurodontism in individuals with ns-PRS, we suggested that this novel phenotype would be important in the phenotypic screening of ns-PRS and could be considered as a phenotype associated with ns-PRS.

Objective Frontonasal dysplasia is a rare developmental defect of the midface, and little is known about the dental involvement in individuals with this condition. This study investigated tooth abnormalities and occlusal disorders in individuals with frontonasal dysplasia. Design Cross-sectional. Setting Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil. Interventions Clinical oral examination, analysis of patient records, and panoramic radiographs. Participants A total of 20 individuals with frontonasal dysplasia aged 7 to 17 years. Main Outcome Measures Prevalence of the several tooth abnormalities and occlusal disorders analyzed. Results A total of 19 individuals presented at least one tooth abnormality, with highly variable findings. In radiographs, 20% of individuals (all presenting oral clefts) presented agenesis of lateral incisors and second premolars. No supernumerary teeth were observed; 65% of individuals exhibited occlusal alterations, especially anterior open bite in the two individuals with median cleft lip. Conclusions Variable clinical and radiographic alterations were observed, probably due to the large variety of phenotypic characteristics. No specific dental alteration could be related with frontonasal dysplasia.

The Laboratory of Physiology provides support for the diagnosis of functional disorders associated with cleft lip and palate and also conducts studies to assess, objectively, the institutional outcomes, as recommended by the World Health Organization. The Laboratory is conceptually divided into three units, namely the Unit for Upper Airway Studies, Unit for Stomatognathic System Studies and the Unit for Sleep Studies, which aims at analyzing the impact of different surgical and dental procedures on the upper airways, stomatognathic system and the quality of sleep of individuals with cleft lip and palate. This paper describes the main goals of the Laboratory in the assessment of procedures which constitute the basis of the rehabilitation of cleft lip and palate, i.e., Plastic Surgery, Orthodontics and Maxillofacial Surgery and Speech Pathology.

Cleft lip and palate anomalies are malformations that affect patients causing some alterations. These alterations can compromise maternal nursing and lead to early introduction of bottle feeding and sugar in the diet of cleft lip and palate infants, compromising their oral health and the surgical/rehabilitation process. Objective: The purpose of this study was to evaluate the nursing habits and the use of baby bottles in a group of cleft lip and palate infants. Material and methods: Two hundred and twenty nine mothers of cleft lip and palate infants in the age range from 6 to 36 months enrolled in the Hospital for Rehabilitation of Craniofacial Anomalies – USP/Bauru were interviewed. It was obtained data on family socioeconomic characteristics as well as mother educational level using the patient’s file. Using a pre-structured questionnaire accomplished always by the same interviewer, information on natural and artificial nursing pattern was obtained. Results: Only 21.4% of the mothers accomplished breastfed their babies. 98.25% of mothers used bottle feeding with milk and other sucrose liquids at one to ten times frequency. Nocturnal nursing habit was verified in 59.38% of total sample. Conclusion: Cleft lip and palate infants presented inadequate nursing habits in relation to both the content and the frequency ingestion, suggesting the need of a multidisciplinary guidance and following-up of infants during this age range.

Indivíduos com fissuras labiopalatinas frequentemente apresentam dificuldade em realizar higiene bucal adequada, apresentando maior acúmulo de placa bacteriana com consequente desequilíbrio microbiano na cavidade bucal; assim, clinicamente tornam-se considerados pacientes de alto risco para cárie dentária e doença periodontal. O controle de placa é particularmente importante no período pós-operatório do enxerto alveolar secundário, com vistas a evitar infecção pós-operatória, manter a saúde do periodonto de proteção e por consequência promover melhor reparo. O objetivo deste estudo foi avaliar a efetividade de um dentifrício com digluconato de clorexidina a 0,12% sobre a saúde bucal em indivíduos com fissuras labiopalatinas durante o período pós-operatório após enxerto alveolar secundário. Um estudo duplo cego foi realizado em 20 indivíduos aleatoriamente divididos em dois grupos (A e B). Indivíduos do grupo A (controle) receberam dentifrício convencional e indivíduos do grupo B um dentifrício à base de clorexidina a 0,12%; sendo para ambos distribuídos escovas de dente de cabeça pequena e cerdas extramacias, acrescido de instruções de higiene bucal a ser realizada três vezes ao dia (manhã, após o almoço e antes de dormir). Os indivíduos foram avaliados em dois períodos, pré-operatório e pós-operatório tardio (após três meses), nos quais foram clinicamente avaliados os índices gengival, de placa, CPOD, ceod, manchamento dentário, além da ocorrência de alterações no paladar. A análise estatística para avaliação dos parâmetros índice gengival, índice de placa, CPOD, ceod para ambos os grupos revelou ausência de diferença estatisticamente significativa entre os grupos, e entre os períodos do estudo para ambos os grupos. Apenas uma criança, a qual fez uso do dentifrício A, relatou alteração no paladar durante o período correspondente. Em todos os exames clínicos realizados não foram diagnosticados qualquer tipo de manchamento dentário indicativo de associação com o uso de clorexidina. Por conseguinte, de acordo com os resultados deste estudo, destaca-se a importância e influência positiva da atenção individualizada durante o processo de ensino da técnica de escovação, principalmente por tratar-se de procedimento cirúrgico dirigido ao público infantil ou pré-adolescente, estando a responsabilidade da execução correta dos cuidados operatórios incumbidas aos seus responsáveis. Individuals with cleft lip and palate often present difficulty to perform adequate oral hygiene, presenting greater dental plaque accumulation with consequent microbial imbalance in the oral cavity; therefore, they were clinically considered high risk individuals for dental caries and periodontal disease. Plaque control is particularly important in the postoperative period after secondary alveolar graft, aiming to avoid postoperative infection, maintain the periodontal health and consequently promote better repair. This study evaluated the effectiveness of a dentifrice containing 0.12% chlorhexidine digluconate on the oral health of individuals with cleft lip and palate during the postoperative period after secondary alveolar graft. A double blind study was conducted on 20 individuals randomly divided in two groups (A and B). Individuals in group A (control) received conventional dentifrices, and individuals in group B received a dentifrice containing 0.12% chlorhexidine digluconate. Individuals in both groups received small head toothbrushes with extra-soft bristles, as well as oral hygiene instructions for toothbrushing three times a day (at morning, after lunch and before sleep). The individuals were analyzed in two periods, namely preoperative and late postoperative (after three months), comprising evaluation of gingival index, plaque index, DMFT, dmft, tooth staining, as well as the occurrence of taste changes. Statistical analysis for the variables gingival index, plaque index, DMFT and dmft for both groups revealed no statistically significant difference between groups, and between the study periods for both groups. Only one individual, in group A, reported taste changes during the study period. No tooth staining indicating association with the utilization of chlorhexidine was observed in the clinical examinations. This study highlighted the importance and positive influence of individualized care for toothbrushing instructions, especially considering that this surgical procedure is usually performed in children or pre-teens, under responsibility of proper accomplishment of postoperative care measured by their caregivers.

Objective: To evaluate the presence of enamel alterations in deciduous maxillary central incisors of infants with unilateral cleft lip and alveolar ridge, with or without cleft palate, and to compare the occurrence and location of these alterations between the central incisor adjacent to the cleft and the contralateral incisor. Design: Intraoral clinical examination was performed after tooth cleaning and drying by a single examiner with the aid of a dental mirror, dental probe, and artificial light, with the child positioned on a dental chair. The defects were recorded in a standardized manner according to the criteria of the Modified Developmental Defects of Enamel Index. Setting: Hospital for Rehabilitation of Craniofacial Anomalies (HRAC) at Bauru, São Paulo, Brazil. Patients: One hundred one infants were evaluated. All were white, of both genders, aged 12 to 36 months and had at least two thirds of the crowns of maxillary incisors erupted. Results: Demarcated opacity was the most common defect at both cleft and noncleft sides, followed by diffuse opacity. The occurrence of hypoplasia at the cleft side was 11.8%. Most defects affected less than one third of the crown. Conclusion: The occurrence of enamel defects in deciduous maxillary central incisors of patients with unilateral cleft lip was 42.6%, mainly affecting the cleft side as to both number and severity.

Cleft lip and palate are relatively common congenital malformations, which may require specialist paedodontic treatment. In this article, the case of a 9-year-old boy with bilateral complete cleft lip and palate is presented. He attended the Hospital for Rehabilitation of Craniofacial Anomalies (HRAC) for routine examination, during which the presence of pre-canine supernumeraries bilaterally in the cleft area was seen. The extraction of these dental elements was justified by extensive carious lesions and because they represented a potential problem during secondary palatoplasty. The precautions needed in tooth extraction in patients with cleft lip and palate are described, together with illustrations of the clinical procedure.

Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-27T11:22:28Z No. of bitstreams: 0Bitstream added on 2014-05-27T14:40:24Z : No. of bitstreams: 1 2-s2.0-34548779613.pdf: 36016 bytes, checksum: 1c4b49acb881da0ec702b258320bbdeb (MD5) Made available in DSpace on 2014-05-27T11:22:28Z (GMT). No. of bitstreams: 0 Previous issue date: 2007-05-01 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 μg 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. Araçatuba Dental School São Paulo State University, Araçatuba, SP Bauru School of Dentistry University of São Paulo, Bauru, SP Hospital for Rehabilitation of Craniofacial Anomalies University of São Paulo, Bauru, SP , A. Octavio Pinheiro Brisolla, 9-75, 17012-901 Bauru, SP Araçatuba Dental School São Paulo State University, Araçatuba, SP

Objectives In an effort to contribute to proper dental planning and define possible dental phenotypes of nonsyndromic cleft lip and/or palate (CL/P), this study aimed to investigate the occurrence of taurodontism, root dilaceration, and tooth transposition in persons with nonsyndromic CL/P, specifically analyzing the differences among gender, cleft types, and the most affected teeth. Design This retrospective study analyzed 974 panoramic x-rays from nonsyndromic Brazilians older than 16 years and categorized into the following four groups: group 1, 250 persons with unilateral cleft lip and palate; group 2, 250 persons with unilateral cleft lip; group 3, 224 persons with cleft palate; and a control group of 250 persons without clefts. Radiographs were digitalized with a scanner and analyzed. Results In the Brazilian population studied, the prevalence of taurodontism was 60.4% in group 1, 62.4% in group 2, 67.0% in group 3, and 42.8% in the control group. Root dilacerations had a prevalence of 31.2% in group 1, 29.6% in group 2, 26.3% in group 3, and 27.2% in the control group. The teeth most affected by taurodontism were 17 and 27; whereas root dilacerations were most common in teeth 38 and 48. No tooth transpositions were found in any radiograph analyzed. Conclusions Taurodontism is significantly more prevalent in Brazilians with nonsyndromic CL/P than in persons without clefts; whereas the prevalence of root dilaceration no different from that in the control group. However, root dilacerations in anterior teeth were increased in groups 1 and 2 when compared to the control group.

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.

Objective To determine in complete unilateral cleft lip and palate (UCLP) subjects the characteristics (location, shape) of the cleft-side lateral incisor. The presence of a supernumerary tooth at the cleft side and the prevalence of hypodontia outside the cleft area were evaluated. A comparison was made of the shape of the cleft side lateral incisor to its contralateral incisor. Setting Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), Sao Paulo, Brazil. Patients Orthopantomograms of 203 subjects with UCLP and without syndromes were chronologically selected from the HRCA data bank, within an age range of 5 to 10 years. Outcome Measure Orthopantomograms were analyzed by the same observer according to established criteria. Results There were no statistically significant differences between sexes for any of the criteria studied. The cleft-side lateral incisor was present in 50.2%, and it was more commonly located at the distal side (76.5%). The congenital absence of the cleft-side lateral incisor was observed in 49.8% of the sample, and its antimere was congenitally missing in 10.9%, this difference being statistically significant. The most commonly missing tooth outside the cleft area was the maxillary second premolar. Conclusions The high prevalence of hypodontia of the permanent lateral incisor in the cleft side showed that the cleft could play an important role in this absence. There were different patterns for the presence of the cleft-side lateral incisor.

The aim of this study was to report the clinical findings and the screening of mutations of amelogenin gene of a 7-year-old boy with amelogenesis imperfecta (AI). The genomic DNA was extracted from saliva of patient and his family, followed by PCR and direct DNA sequencing. The c.261C>T mutation was found in samples of mother, father, and brother, but the mutation was not found in the sequence of the patient. This mutation is a silent mutation and a single-nucleotide polymorphism (rs2106416). Thus, it is suggested that the mutation found was not related to the clinical presence of AI. Further research is necessary to examine larger number of patients and genes related to AI.

This paper presents the treatment protocol of maxillofacial surgery in the rehabilitation process of cleft lip and palate patients adopted at HRAC-USP. Maxillofacial surgeons are responsible for the accomplishment of two main procedures, alveolar bone graft surgery and orthognathic surgery. The primary objective of alveolar bone graft is to provide bone tissue for the cleft site and then allow orthodontic movements for the establishment of an an adequate occlusion. When performed before the eruption of the maxillary permanent canine, it presents high rates of success. Orthognathic surgery aims at correcting maxillomandibular discrepancies, especially anteroposterior maxillary deficiencies, commonly observed in cleft lip and palate patients, for the achievement of a functional occlusion combined with a balanced face.

Aim Current literature on chronic periodontitis genetics encompasses numerous single nucleotide polymorphisms-focused case–control studies with inconsistent and controversial results, which typically disregards the exposure concept embraced by case–control definition. Herein, we propose a case–control design reappraisal by clear phenotype selection, where chronic gingivitis represents a genetically resistant phenotype/genotype opposing the susceptible cohort. Material and methods The hypothesis was tested in healthy, chronic periodontitis and gingivitis groups through Real-time PCR-based allelic discrimination of classic variants IL1B-3954, IL6-174, TNFA-308, IL10-592 and TLR4-299. Results Observed allele/genotype frequencies characterize the healthy group with an intermediate genetic profile between periodontitis and gingivitis cohorts. When comparing genotype/allele frequencies in periodontitis versus healthy and periodontitis versus gingivitis scenarios, the number of positive associations (2–4) and the degree of association (p and odds ratio values) were significantly increased by the new approach proposed (periodontitis versus gingivitis), suggesting the association of IL1B-3954, TNFA-308, IL10-592 and TLR4-299 with periodontitis risk. Power study was also significantly improved by the new study design proposed when compared to the traditional approach. Conclusions The data presented herein support the use of new case–control study design based on the case–control definition and clear resistance/susceptibility phenotypes selection, which can significantly impact the study power and odds of identification of genetic factors involved in PD.

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.

There is a lack of data on the oral health status of individuals with craniofacial syndromes. A group of 15 children with Treacher Collins syndrome, aged 5 to 15 years old, was examined and evaluated for plaque, caries and gingival problems. The ability of the patients to clean their teeth was also investigated. A high plaque index and poor efficacy of tooth-brushing was recorded. The caries and gingival indexes were not proportionally as high as the plaque accumulation. There was no association between the gingival index and presence of mouth breathing. There was predominance of the D component in both the dmft and DMFT indexes; this was associated with a need for restorative dental treatment in 60% of the patients, which indicated the need for dental care for these patients. Caretakers should be informed of the importance of oral health and oral hygiene and encouraged to take responsibility for the oral care of the children living at home.

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.

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.

Objective The objective of this retrospective study was to verify whether the root development of the permanent lateral incisor on the cleft side was delayed, compared with its contralateral tooth in subjects with complete unilateral cleft lip and palate. Setting Craniofacial Anomalies Rehabilitation Hospital (HRAC)-University of São Paulo-Bauru, Brazil. Patients A sample of 98 panoramic radiographs of HRAC patients with complete unilateral cleft lip and palate was selected, regardless of sex and race. Main outcome Measure Panoramic radiographs were analyzed and the root development stage of the cleft-side permanent lateral incisor was compared with its contralateral tooth. Results Overall, the permanent cleft-side lateral incisor was significantly delayed in root development in relation to the noncleft side contralateral tooth (p < .05). However, no significant differences were observed between boys and girls. Conclusions Root development of the permanent cleft-side lateral incisor was delayed, compared with its contralateral tooth. The cleft itself may play an important role in this delay because the results from boys and girls were very similar.

Objective The objective of this study was to determine the prevalence of ectopic eruption of intranasal teeth. Design This was a retrospective study, where records of children with repaired cleft lip and palate were analyzed. Setting The study was conducted at a large craniofacial center, the Hospital for Rehabilitation of Craniofacial Anomalies, USP, Bauru, São Paulo, Brazil. Subjects The sample consisted of 815 records from patients with bilateral cleft lip and palate (BCLP) and 1495 records from patients with unilateral cleft lip and palate (UCLP). The age of the subjects was 5 to 10 years old and the groups included both males and females. Results The results showed that 0.61% of the children with BCLP and 0.40% of those with UCLP had an intranasal tooth. The prevalence of an intranasal tooth for the whole group was 0.48%, and it appeared to be more common in females.

The aim of this article is to present the pediatric dentistry and orthodontic treatment protocol of rehabilitation of cleft lip and palate patients performed at the Hospital for Rehabilitation of Craniofacial Anomalies - University of São Paulo (HRAC-USP). Pediatric dentistry provides oral health information and should be able to follow the child with cleft lip and palate since the first months of life until establishment of the mixed dentition, craniofacial growth and dentition development. Orthodontic intervention starts in the mixed dentition, at 8-9 years of age, for preparing the maxillary arch for secondary bone graft procedure (SBGP). At this stage, rapid maxillary expansion is performed and a fixed palatal retainer is delivered before SBGP. When the permanent dentition is completed, comprehensive orthodontic treatment is initiated aiming tooth alignment and space closure. Maxillary permanent canines are commonly moved mesially in order to substitute absent maxillary lateral incisors. Patients with complete cleft lip and palate and poor midface growth will require orthognatic surgery for reaching adequate anteroposterior interarch relationship and good facial esthetics.

Introdução: A síndrome de Van der Woude (SVW) consiste em uma anormalidade genética atribuída, em uma grande parcela de casos, a variantes no gene IRF6, sendo caracterizada pela presença de fístulas paramedianas no lábio inferior, fissura de lábio e/ou palato e hipodontia. O fenótipo hipodontia vem sendo considerado uma característica da síndrome devido à sua alta prevalência. No entanto, outros fenótipos dentários têm sido pouco explorados na caracterização da síndrome de Van der Woude. Objetivo: Investigar se existe e qual seria o padrão de ocorrência de taurodontismo associado ou não à hipodontia na síndrome de Van der Woude Metodologia: Foram selecionados 110 sujeitos com diagnóstico confirmado da síndrome matriculados no Hospital de Reabilitação de Anomalias Craniofaciais (HRAC/USP) e analisadas a presença de taurodontismo e/ou hipodontias nas radiografias panorâmicas arquivadas. Resultados: 92,72% dos sujeitos apresentaram hipodontia, 42,72% apresentaram algum grau de taurodontismo. Em 40% da amostra essas duas anomalias cursavam juntas no fenótipo dentário. Houve uma maior prevalência de hipodontia dos incisivos laterais superiores, e para o taurodontismo uma maior prevalência dos primeiros molares superiores. Conclusão: o taurodontismo é um fenótipo frequentemente associado a hipodontia na SVW e deve ser considerado no detalhamento fenotípico para o diagnóstico e planejamento de reabilitação dessa síndrome. Introduction: Van der Woude syndrome (SVW) is a genetic abnormality attributed, in a large number of cases, to variants in the IRF6 gene, characterized by the presence of paramedian fistulas in the lower lip, cleft lip and/or palate and hypodontia.The hypodontia phenotype has been considered a characteristic of SVW due to its high prevalence. However, other dental phenotypes have been comparatively underexplored in the characterization of the syndrome. Objective: To investigate whether there is and what would be the pattern of occurrence of taurodontism associated or not with hypodontia in Van der Woude syndrome. Methodology: 110 subjects with a confirmed diagnosis of the syndrome were selected at the Hospital for Rehabilitation of Craniofacial Anomalies (HRAC/USP) and analyzed for the presence of taurodontism and/or hypodontia in the archived panoramic x-rays. Results: 92.72% of the subjects had hypodontia, 42.72% had some degree of taurodontism. In 40% of the sample, these two anomalies co-occurred in the dental phenotype. There was a higher prevalence of hypodontia of maxillary lateral incisors, and for taurodontism a higher prevalence of maxillary first molars. Conclusion: Hypodontia was the most frequently found dental anomaly, which was expected, as it is already considered a characteristic of SVW. However, in almost half of the cases with hypodontia, this phenotype did not occur in isolation, but along with taurodontism. Thus, it is concluded that taurodontism is a phenotype frequently associated with hypodontia in SVW and should be considered in the phenotypic detail for the diagnosis and rehabilitation planning of this syndrome.

As fissuras labiopalatinas representam uma das malformações craniofaciais mais comuns. Dentro da classificação das fissuras orofaciais estão as fissuras raras da face que são malformações que afetam outras partes da face e do crânio que não sejam os locais mais comuns, como o lábio e o palato. Este tipo específico de fissura pode estar associado a outras alterações, dentre elas as anomalias dentárias. Objetivo: O objetivo deste trabalho foi realizar uma revisão sistemática da literatura para investigar e descrever os fenótipos dentários diagnosticados em sujeitos com fissuras orofaciais raras, determinando quais os mais frequentes. Métodos: O protocolo e checklist de orientação para esta revisão sistemática seguiu as diretrizes PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses: The PRISMA Statement. O critério PICo (população, interesse e contexto) foi utilizado para construir a orientação de pesquisa. Foi realizada estratégia de busca ampla da literatura, sem limitação de data em 4 bases de dados online: PUBMED, EMBASE, SCOPUS e WEB OF SCIENCE. O período de realização das buscas ocorreu entre fevereiro e março de 2021. Utilizando as estratégias de busca descritas, foram recuperados 153 registros. A sistemática de seleção dos estudos foi realizada em duas fases, por duas examinadoras. Os dados minerados e coletados foram tabulados em uma planilha no programa Microsoft Excel. Resultados: Dos 153 registros identificados nas buscas nas bases de dados descritas, foram selecionados 12 estudos para compor essa revisão sistemática, sendo que esses estudos foram publicados entre os anos de 2011 e 2020. Quanto a caracterização da casuística, o número total de casos avaliados nesses estudos foi de 53 sujeitos. A média de idade dos pacientes avaliados variou desde recém nascidos até um paciente com 25 anos. Em relação ao sexo, foram 27 do sexo masculino e 26 do sexo feminino. Dentre os tipos de fissuras raras diagnosticados nos estudos selecionados, a fissura do tipo 7 foi a mais relatada. Enquanto a fissura n°11 e a fissura transversa/oblíqua, foram relatadas, apenas, em um estudo, cada uma. Em relação aos fenótipos dentários, foi diagnosticada uma ou mais anomalias dentárias em 18 dos 53 sujeitos que compuseram a casuística geral dessa revisão sistemática. Desses 18 sujeitos, 10 apresentavam ausência dentária de um ou mais dentes e 6 pacientes apresentavam apenas dentes supranumerários. A associação de dois fenótipos dentários diferentes, ausência dentária e dentes supranumerários, foi observada em somente 1 paciente e dente hipomineralizado foi encontrado em 1 paciente. Conclusão: as ausências dentárias e os dentes supranumerários são os fenótipos dentários mais frequentes nos casos de fissuras orofaciais raras. Cleft lip and palate represent one of the most common craniofacial malformations. Within the classification of orofacial clefts are rare clefts of the face which are malformations that affect parts of the face and skull other than the most common places, such as the lip and palate. This specific type of cleft may be associated with other deviations, including dental anomalies. Goal: The goal of this paper was to carry out a systematic review of literature in order to investigate and describe the dental phenotypes diagnosed in subjects with rare orofacial clefts, thereby determining which are the most frequent. Method: The protocol and guidance checklist for this systematic review followed PRISMA guidelines (Preferred Reporting Items for Systematic Reviews and Meta-Analyses: The PRISMA Statement.) The PICo criterion (population, interest and context) was used for research orientation. A broad literature search strategy was carried out, without date limitation, via four online databases: PUBMED, EMBASE, SCOPUS and WEB OF SCIENCE. This research was carried out between February and March 2021. Using the aforementioned research strategies, 153 records were retrieved. The systematic selection of studies was carried out in two phases, by two examiners. The collected data was tabulated in a spreadsheet in the program Microsoft Excel. Results: Of the 153 records identified in the searches in the databases, 12 studies were selected to compose this systematic review, and these studies were published between the years 2011 and 2020. As for the characterization of the sample, the total number of cases evaluated in these studies was 53 subjects. The mean age of the evaluated patients ranged from newborns to a patient aged 25 years old. Regarding gender, 27 were male and 26 were female. Among the rare cleft types diagnosed in the selected studies, type 7 cleft was the most reported. While the type 11 cleft and the transverse/oblique cleft were reported only in one study, each. Regarding dental phenotypes, one or more dental anomalies were diagnosed in 18 of the 53 subjects who composed the general series of this systematic review. Of these 18 subjects, 10 had one or more missing teeth and 6 had only supernumerary teeth. The association of two different dental phenotypes, tooth absence and supernumerary teeth, was observed in only 1 patient and hypomineralized teeth were found in 1 patient. Conclusion: Missing teeth and supernumerary teeth are the most frequent dental phenotypes in cases of rare orofacial clefts.

Influência do polimorfismo do gene SCN9A no perfil somatossensorial mecânico e na modulação da dor. O objetivo do presente estudo foi verificar a influência do polimorfismo rs6746030 do gene SCN9A na sensibilidade mecânica dolorosa e na modulação condicionada de dor entre mulheres com disfunção temporomandibular (DTM) e grupo controles. As seguintes variáveis foram mensuradas: 1) perfil psicológico, baseado nos critérios dos questionários escala hospitalar de ansiedade e depressão (HADS, sigla em inglês), questionário do sono de Pittsburgh (PSQI, sigla em inglês), escala de catastrofização da dor (PCS, sigla em inglês); 2) análise do polimorfismo rs6746030 do gene SCN9A, realizada por meio da técnica de Reação em Cadeia da Polimerase em Tempo Real, do inglês Polymerase Chain Reaction (PCR, sigla em inglês); 3) perfil somatossensorial mecânico, mensurado através de testes quantitativos sensoriais (QST, sigla em inglês), sendo eles o limar de dor mecânica (MPT, sigla em inglês), razão da somação temporal (WUR, sigla em inglês), limiar de dor à pressão (PPT, sigla em inglês); 4) análise da do nível de modulação da dor, mensurada por meio do teste modulação condicionada da dor (CPM, sigla em inglês). O teste do qui-quadrado foi realizado para análise do desvio de Hardy-Weinberg em relação à distribuição dos genótipos do polimorfismo rs6746030 do gene SCN9A. As comparações entre os grupos DTM e controle, sem considerar as subdivisões de acordo com a presença do polimorfismo SCN9A, foram realizadas por meio do teste U de Mann- Whitney. Já para as comparações das variáveis somatossensoriais e a modulação condicionada da dor entre os grupos DTM e controle, considerando as subdivisões de acordo com a presença do polimorfismo SCN9A, foram realizadas por meio da análise de variância (ANOVA) mista com fator grupo (DTM ou controle) e fator polimorfismo SCN9A (presença ou ausência). Cento e noventa e cinco mulheres com idade entre 20 e 69 anos foram agrupados de acordo com a presença ou ausência de DTM e os diagnósticos mais comuns foram dor miofascial com referência (29,25%) e mialgia local (26,38%). Foram verificados dois achados principais: 1) a presença de polimorfismo do gene SNC9A não influenciou a sensibilidade mecânica dolorosa e na modulação condicionada de dor; 2) mulheres com DTM apresentaram maiores níveis de estresse, ansiedade, depressão, catastrofização e sensibilização central e pior qualidade do sono. Conclui-se que o polimorfismo rs6746030 do gene SCN9A sozinho não foi capaz de modificar os limiares de dor mecânica, a somação temporal e o nível de modulação de dor em mulheres com DTM, sendo a maioria dessas variáveis apenas influenciada pela presença da condição dolorosa (DTM). Além disso, o presente estudo reforçou a importância e a influência das variáveis psicossociais em pacientes com DTM. Influence of the SCN9A gene polymorphism on the mechanical somatosensory profile and pain modulation. The aim of the present study was to verify the influence of the rs6746030 polymorphism of the SCN9A gene on painful mechanical sensitivity and conditioned pain modulation among women with asymptomatic temporomandibular disorders (TMD) and control. The following variables were measured: 1) psychological profile, based on the criteria of the hospital anxiety and depression scale questionnaires (HADS), Pittsburgh sleep questionnaire (PSQI), pain catastrophizing scale (PCS , acronym in English); 2) analysis of the rs6746030 polymorphism of the SCN9A gene, performed using the Real Time Polymerase Chain Reaction technique, from the English Polymerase Chain Reaction (PCR); 3) mechanical somatosensory profile, measured through quantitative sensory tests (QST, acronym in English), being the mechanical pain file (MPT), reason of the temporal summation (WUR), pain threshold pressure (PPT); 4) analysis of the level of pain modulation, measured using the conditioned pain modulation test (CPM). The chi-square test was performed to analyze the Hardy-Weinberg deviation in relation to the distribution of the RS6746030 polymorphism genotypes of the SCN9A gene. The comparisons between the TMD and control groups, without considering the subdivisions according to the presence of the SCN9A polymorphism, were performed using the Mann-Whitney U test. As for the comparisons of the somatosensory variables and the conditioned modulation of pain between the TMD and control groups, considering the subdivisions according to the presence of the SCN9A polymorphism, they were carried out through the analysis of variance (ANOVA) mixed with group factor (TMD or control) and SCN9A polymorphism factor (presence or absence).One hundred and ninety-five women aged between 20 and 69 years were grouped according to the presence or absence of TMD and the most common diagnoses were myofascial pain with reference (29.25%) and myalgia (26.38%). Two main findings were verified: 1) the presence of polymorphism of the SNC9A gene did not influence the painful mechanical sensitivity and conditioned pain modulation;2) women with TMD had higher levels of stress, anxiety, depression, catastrophization and central sensitization and worse sleep quality. It was concluded that the rs6746030 polymorphism of the SCN9A rs6746030 gene alone was not able to modify the mechanical pain thresholds, the temporal summation and the level of pain modulation in women with TMD, most of these variables being only influenced by the presence of the painful condition (TMD). In addition, the present study reinforced the importance and influence of psychosocial variables in patients with TMD.

Chronic periodontitis and apical periodontitis are infectious diseases characterized by the inflammatory destruction of teeth-supporting tissues. The clinical presentation of these diseases is the result of the interaction between the infecting microorganisms and the hosts defense mechanisms, constituting the host/pathogen barrier. Genetic variations are associated with differential susceptibility profiles, modulating simultaneously the patterns of infection and immune response. Therefore, we investigated the association of selected genetic variations with phenotypes of resistance or susceptibility to periodontal and periapical inflammatory bone resorption, as well as with changes in the sub gingival microbial profile and hosts response biomarkers. The polymorphism rs4794067 (gene TBX21) proved significantly associated with increased risk to suffer periodontitis. Polymorphic allele-carriers demonstrated increased expression of T-bet. IFN- expression and bacterial load proved unaltered by genotype differences. The mutation rs333 (a.k.a. CCR532, in gene CCR5) demonstrated a protective effect against chronic periodontitis. Heterozygous subjects exhibited decreased TNF- expression. The genetic mutation was unrelated to changes in the bacterial load of putative periodontal pathogens. The polymorphisms rs2521634 (gene NPY), rs10010758 (gene TBC1D), rs6667202 (gene IL10), and rs10043775 (gene TBXO38) proved associated with significant changes in the composition of the subgingival biofilm in chronic periodontitis patients. For apical periodontitis we employed an unbiased biomarker screening strategy based in 2D diferential electrophoresis in tandem with mass spectrometry. Among the biomarkers that proved significantly modulated, we discover a substantial upregulation of HSP27 and SERPINB1. Both proteins were preferentially localized in the cytoplasm of epithelial cells in the epithelium lining the cystic cavity and the epithelial chords of epithelized granulomas. Additionally, SERPINB1 was expressed in infiltrating polymorph nuclear neutrophils. The expression of HSP27 and SERPINB1 demonstrated a negative correlation with acute inflammation biomarkers. Overall, these genes and protein biomarkers may be promissory targets to predict the risk profile for periodontal and periapical inflammatory bone resorption. A periodontite crônica e a periodontite apical são doenças infecciosas caraterizadas pela destruição inflamatória dos tecidos de suporte dentários. O fenótipo clínico de ambas as doenças é o resultado da interação entre os microrganismos infectantes e os mecanismos de defesa do hospedeiro (barreira hospedeiro/patógeno). Ainda, variações genéticas podem conferir níveis diferenciais de susceptibilidade a tais doenças, teoricamente modulando tanto os padrões de infecção como de resposta do hospedeiro. Neste contexto, investigamos a associação de variações genéticas selecionadas com fenótipos de resistência e susceptibilidade a lesões osteolíticas periodontais e periapicais, assim como possíveis associações com mudanças no perfil microbiológico sub gengival e em marcadores de resposta do hospedeiro. O polimorfismo rs4794067 (no gene TBX21) demonstrou uma associação significativa com risco aumentado de sofrer periodontite crônica. Os portadores do alelo polimórfico apresentaram uma expressão significativamente aumentada de Tbet. No entanto, a expressão de IFN- e a carga bacteriana mostraram-se independentes do perfil genético para rs4794067. O polimorfismo rs333 (também conhecido como CCR532, no gene CCR5) demonstrou um efeito protetor para periodontite crônica. Os pacientes heterozigotos exibiram níveis de expressão significativamente diminuídos de TNF-, porém, os níveis bacterianos mostraram-se independentes do perfil genético para rs333. Os polimorfismos rs2521634 (no gene NPY), rs10010758 (no gene TBC1D), rs6667202 (no gene IL10) e rs10043775 (no gene TBXO38) demostraram uma associação significativa com mudanças no perfil microbiológico sub gengival em pacientes com periodontite crônica. No caso da periodontite apical, escolhemos uma metodologia de seleção de marcadores baseada no uso consecutivo de eletroforeses diferencial bidimensional e espectrometria de massa. Dentre os marcadores que apresentaram uma modulação significativa, as lesões de periodontite apical demostraram uma supraregulação de HSP27 e SERPINB1. Ambas as proteínas foram preferencialmente imunomarcadas nas ilhas epiteliais dentro das lesões. A expressão de HSP27 e SERPINB1 apresentou uma correlação negativa com os marcadores de inflamação aguda. Assim sendo, estes genes e biomarcadores proteicos mostram-se como alvos promissórios para a determinação do perfil de risco de lesões osteolíticas periodontais e periapicais.

Fissuras labiopalatinas são as anomalias congênitas mais comuns nos seres humanos, apresentando etiologia multifatorial, com a interação entre fatores genéticos e ambientais. A reabilitação é complexa e multidisciplinar, podendo durar longos anos. Muitos destes pacientes apresentam patologias que resultam na necessidade de tratamento endodôntico. A necessidade desta intervenção pode ter várias etiologias, associadas ou não ao mal posicionamento dos dentes no arco, dentes cariados com perda de estrutura dentária, reabsorções dentárias, raízes não formadas, mecânica ortodôntica exacerbada e reabilitação protética na área da fissura. Principalmente nas áreas próximas às fissuras labiopalatinas, estes dentes necessitam de cuidados especiais, pois há o risco de extravasamento de material nos tecidos periapicais. O exame radiográfico é um meio complementar de grande importância para o tratamento endodôntico; entretanto, é de extrema relevância e indispensável a realização de uma adequada anamnese, exames físicos e complementares para o correto diagnóstico. Este estudo foi composto por uma amostra de 406 indivíduos com fissura completa unilateral de lábio e palato que completaram o processo reabilitador em um único centro de reabilitação. A distribuição entre os sexos foi de 55,9% para o gênero masculino e 44,1%% para o feminino. As informações foram obtidas com base nas descrições da evolução odontológica e laudos radiográficos presentes no prontuário. A frequência de intervenções endodônticas nos incisivos e caninos superiores foi calculada para os lados com e sem fissura. A comparação entre os lados com e sem fissura foi realizada pelo teste qui-quadrado (p

The process of alveolar bone healing can be influenced by several local and systemic factors, which include the immune system and healing related genes. However, the exact role of host inflammatory responsiveness and genetic background in bone healing process remains unclear. In this context, we evaluated the influence inflammation in alveolar bone healing taking advantage of mice strains genetically selected for maximum (AIRmax) or minimum (AIRmin) acute inflammatory response, as well AIR strains homozygous for RR/SS Slc11a1 genotypes. Experimental groups (N=5/time/group) comprised 8-week-old male or female AIRmax and AIRmin; and substrains AIRminRR, AIRminSS and AIRmaxRR and AIRmaxSS; submitted to extraction of upper right incisor and evaluated at 0, 3, 7, 14 and 21 days after upper incision extraction by micro-computed tomography (CT), histomorphometry, birefringence, immunohistochemistry and molecular (PCRArray) analysis. Initially, our results demonstrated that AIRmin mice presented an early increase (p

Objetivo:Verificar uma possívelcorrelação entre o nível de cortisol salivar e a atenção auditiva sustentada em crianças com fissura labiopalatina. Localde Execução:Hospital de Reabilitação de Anomalias Craniofaciais. Método:Estudo prospectivo com 69 crianças de seis a 11 anos de idade, com fissura labiopalatina, com audição normal e sem histórico de desatenção. As crianças foram submetidas à coleta de saliva, para a mensuração do nível de cortisol, e ao Teste de Habilidade de Atenção Auditiva Sustentada (THAAS), para verificar a atenção sustentada. Resultados:Os resultados demonstraram a ausência de significância estatística entre os sexos, tanto para o nível de cortisol quanto para a atenção auditiva sustentada. As crianças de 7 anos apresentaram os piores resultados na atenção sustentada e os mais altos níveis de cortisol salivar. Conclusão: Foi possível verificar correlação positiva, com diferença estatisticamente significativa, entre o nível de cortisol salivar e a habilidade de atenção auditiva sustentada apenas nas crianças com fissura labiopalatina na faixa etária de sete anos. Objective: To verify a possible correlation between salivary cortisol level and sustained auditory attention in children with cleft lip and palate. Place of Execution: Hospital of Rehabilitationof Craniofacial Anomalies. Method:Prospective study with 69 children from 6 to 11 years of age, with cleft lip and palate, with normal hearing and no history of inattention. The children were submitted to saliva collection for the measurement of cortisollevel and to the Sustained Auditory Attention Ability Test(SAAAT) to verify sustained attention. Results:The results demonstrated the absence of statistical significance between the sexes, both for the cortisol level and for the sustained auditory attention. The 7-year-old children had the worst results in sustained attention and the highest levels of salivary cortisol. Conclusion:A positive correlation with a statistically significant difference between salivary cortisol level and sustained auditory attention ability was observed only in children with cleft lip and palate at the age of seven years.

Objetivo: Investiar as competências neuropsicológicas da atenção de crianças com fissura labiopalatina (FLP) reparada; caracterizar o perfil das habilidades neuropsicológicas da atenção quanto a seletividade, sustentação e alternância; comparar os níveis atencionais entre os grupos compostos por crianças com fissuras pré-forame, pós-forame e transforame incisivo. Fizeram parte deste estudo 111 sujeitos, ambos os sexos, entre 7 e 12 anos, diagnosticados com FLP isolada. Os critérios de inclusão foram; estar inscrito no Hospital de Reabilitação em Anomalias Craniofaciais (HRAC/USP); ter diagnóstico de FLP isolada e reparada, classificados num dos tipos: pré-forame, transforame e pós-forame; estar na faixa etária do estudo; apresentar nível intelectual dentro da classificação de normalidade; não fazer uso de medicação neurológica ou psiquiátrica; apresentar queixa de atenção e/ou nível inferior na leitura e escrita; consentir formalmente na pesquisa através do termo de consentimento. Material e Métodos: Os instrumentos utilizados foram; Matrizes Progressivas Coloridas de Raven: escala especial; Teste de Desempenho Escolar (TDE); Teste de Atenção Difusa - Forma 1 (TEDIF-1); Teste de Atenção Visual (TAVIS-4); Teste Wisconsin de Classificação de Cartas (WCST); Teste Stroop de Cores e Palavras. Os dados foram categorizados e descritos conforme os crivos e tabelas de apuração e interpretação, contidos no manual de cada instrumento. Resultados: O gênero masculino teve maior incidência e o tipo predominante foi o da fissura transforame. Os recursos intelectuais em tarefas de raciocínio mostraramse na média para a maioria dos participantes. Quanto ao domínio de leitura e escrita, caracterizado por níveis inferiores à série e idade em atividades de escrita (85,59%) e leitura (73,87%), indicando as dificuldades básicas de aprendizagem. Conclusão: Concluiu-se que as crianças com fissura labiopalatina apresentam alterações nas habilidades atencionais, tendo aquelas com fissura pós-forame maiores prejuízos atencionais quanto à seletividade e alternância da atenção e as com o tipo transforame, na sustentação atencional, e a pré-forame, comprometimentos nos três componentes de atenção, com significância estatistica comparado ao transforame Objective: To investigate the neuropsychological skills of the attention of children with repaired cleft lip and palate (CLP); to characterize the neuropsychological skills profile of attention in this population, including selectivity, support, and alternation; to compare attentional levels between groups of children with pre-foramen clefts, postforamen, and incisive Trans. The sample comprised 111 subjects, both genders, between 7 and 12 years, diagnosed with FLP isolated. Inclusion criteria were: registered in the Rehabilitation Hospital of Craniofacial Anomalies (HRAC / USP); have diagnostic FLP isolated and repaired, and ranked one of the following: preforamen, trans, and post-foramen; appropriate age; present intellectual levels within normal classification; not taking neurological or psychiatric medication; complain of attention and/or lower level in reading and writing; provide formal consent through the consent form. Methods: The instruments used were Colored Progressive Matrices of Raven: Special Scale; School Performance Test (TDE); Divided Attention Test - Form 1 (TEDIF-1); Visual Attention Test (TAVIS-4); Test Wisconsin Card Sorting (WCST); and Stroop Color and Word Test. The data were categorized and described as strainers and calculation and interpretation tables contained in each instrument manual. Results: Males reported a higher incidence and the predominant type was the transforame fissure. The brainpower in reasoning tasks for most participants was within average range. Reading and writing were characterized by levels below average for their age for both writing (85.59%) and reading activities (73.87%), indicating basic learning difficulties. Conclusion: Children with cleft lip and palate demonstrate changes in attentional skills. Those with post-foramen fissure possess greater attentional losses in the selectivity and switching of attention, those with the transforame type require attentional support, and those with pre-foramen require commitments in the three components of attention, with statistical significance compared to Transforame.

A sequência de Pierre Robin (SPR) é definida como um defeito congênito, caracterizado por três anomalias principais: micrognatia, glossoptose e fissura de palato, apresentando uma prevalência aproximada de 1/8500 nascimentos e de etiologia considerada altamente variável e amplamente discutida na literatura. Pode se apresentar associada a alguma síndrome ou malformação (SPR sindrômica) ou na forma isolada (SPR não sindrômica ou isolada). Por ser uma alteração que compromete diretamente o terço médio da face, a cavidade bucal pode estar comprometida. Desta forma, o objetivo deste estudo foi investigar os fenótipos odontológicos, determinando especificamente a prevalência de anomalias dentárias em um grupo de indivíduos brasileiros com SPRI do HRAC/USP. Material e método: Foi realizado um estudo retrospectivo com radiografias panorâmicas de 110 indivíduos cadastrados no HRAC-USP, com idade superior a 11 anos. Essas radiografias foram digitalizadas e avaliadas para o diagnóstico de taurodontismo, agenesias dentárias, dilaceração radicular, transposição dentária, dentes supranumerários macrodontia e microdontia. Para o diagnóstico preciso do taurodontismo foram realizadas medições lineares dos molares por meio do Software Image J. Para comparação entre os gêneros e os tipos de fissuras foi utilizado o teste exato de fisher. Resultados: Dos 110 indivíduos com SPRI incluídos neste estudo, 94,54% apresentou pelo menos um tipo de anomalia dentária. A mais prevalente foi o taurodontismo, observado em 92,72% da população estudada, seguido pela agenesia dentária e a dilaceração radicular, com 22,72% e 15,45% respectivamente. Em menor proporção foi observada prevalência de 0,91% para a transposição dentária, constatado nenhum caso de dente supranumerário, microdontia e nem macrodontia. Conclusão: Dos fenótipos odontológicos investigados, o taurodontismo e a agenesia dentária foram as anomalias dentárias mais prevalentes, sendo o arco superior e molares superiores os mais acometidos pelo taurodontismo, e no arco inferior e os pré-molares inferiores os mais atingidos pela agenesia dentária. Não foram observadas diferenças significativas entre os tipos de fissura e entre os gêneros, com exceção da dilaceração radicular, a qual apresentou predileção pelo gênero feminino. Demostrando assim que em indivíduos brasileiros com SPRI existe uma alta frequência de anomalias dentárias, o que pode determinar implicações clinicas consideráveis na abordagem e execução do tratamento odontológico reabilitador destes indivíduos. The Pierre Robin sequence (PRS) is considered a congenital disease, characterized by three main anomalies: micrognathia, glossoptosis and palate cleft, showing a prevalence of over 1/8500 birth with a variable etiology, widely discussed on literature. It can be associated to some other syndrome or malformation (syndromic PRS) or to the isolated type (no syndromic or isolated PRS). Because it is an alteration that affects the medium third section of the face, the oral cavity may be involved. Thus, the aim of this study was to investigate the dental phenotypes, determining specifically the prevalence of the dental abnormalities on a brazilian group with IPRS from HRAC/USP. Material and methods: A retrospective study was done with panoramic radiographs from 110 individuals of HRAC/USP, with superior age to 11 years old. These radiographs were digitalized and evaluated to the diagnostic of taurodontism, dental agenesis, root dilacerations, dental transposition, supernumerary teeth, macrodontia and microdontia. In order to get a precise diagnostic of taurodontism, linear measurements from molars were performed using Software Image J. The Fishers exact test was employed for the comparison between the genders and the types of clefts. Results: From the 110 individuals with IPRS on this study, 94.54% showed at least one type of dental abnormality, being taurodontism, the most prevalent, observed in 92.72% from the studied population, followed by dental agenesis and the root dilacerations, with 22.72% and 15.45%, respectively. In a lower proportion a prevalence of 0,91% for dental transportation was observed and no case found of supranumerary teeth, microdontia or macrodontia. Conclusion: From the dental phenotypes investigated, taurodontism and dental agenesis were the most prevalent dental abnormalities, being the superior arcade and molars the most injured by dental agenesis. It was not observed significant differences among the cleft types and the gender, except the root dilacerations, with a higher prevalence to the female gender. Therefore, IPRS brazilian individuals have a high frequence of dental abnormalities, with considerable clinical implications on the dealing and managing the rehabilitation treatment of these individuals.

Entre as muitas aplicações das tecnologias de identificação biológica humana, estão as finalidades forenses. O objetivo desta pesquisa foi verificar frequências alélicas de Short Tandem Repeat (STR) e os parâmetros estatísticos de interesse em genética de populações e forense para desenvolver o primeiro banco de dados populacional de DNA na Faculdade de Odontologia de Bauru, Universidade de São Paulo, (FOB/USP) para futuros usos forenses. Frequências alélicas de 15 locos autossômicos e do marcador de gênero amelogenina foram determinadas utilizando amostras de 200 μL de saliva doados por 296 alunos de graduação da FOB/USP, com idade ≥ 18 anos, após aprovação ética. Os testes laboratoriais foram feitos com kits comerciais. Resultados e parâmetros estatísticos foram obtidos por meio de programas clássicos: GeneMapper-ID-X, MS Excel 2002 versão 10.6871.6870, GenAlEx 6.5 e Arlequin 3.5, comparando quatro populações (brasileira, portuguesa, norte-americana e a população deste estudo). Os locos mais polimórficos foram D18S51 (17 alelos) e FGA (15 alelos), seguidos pelo D21S11 (13 alelos) e os menos polimórficos foram D16S539 e TH01 (7 alelos cada). A análise comparativa com amostra da população brasileira proveniente de estudos anteriores (n > 100.000) pelo teste goodness of fit X2 index não mostrou diferenças significativas entre estes grupos (p = 0,9999). Outros parâmetros estatísticos foram calculados comparando as populações: local (deste estudo), portuguesa e norte-americana. A análise de variância molecular (AMOVA) entre as três populações, entre as pessoas da mesma população e para cada pessoa de cada população mostrou que existe uma elevada variância individual (99%), que esta variância é mantida uniformemente entre as pessoas da mesma amostra/região (1%) e entre as três populações estudadas (0%). O estudo confirmou o elevado grau de polimorfismo e a alta heterozigosidade (96,5%) da população. Houve diferença significativa quanto ao gênero (79,7% mulheres) quando comparado à população brasileira em geral (50,4%), explicada pelas características do corpo discente da FOB/USP composto por 80,6% de pessoas do gênero feminino. Interessante foi a observação de uma microvariante alélica no loco D18S51, fora da escada padrão e da escala de abrangência do kit, correspondente ao alelo 29, ainda não definida na base de dados internacional (STRBase, atualizada em 07/08/2015). Esta microvariante deverá ser confirmada por testes familiares e sequenciamento de DNA para verificar a possibilidade de outra ocorrência familiar ou duplicação de nucleotídeos. No futuro, os dados obtidos neste estudo devem ser incorporados ao banco de dados da população brasileira e podem ser considerados como referência genética da população regional, ajudando a elucidar casos forenses. Após a confirmação, a potencial nova microvariante alélica contribuirá para a base de dados internacional STRBase. There are many ways of applying biological human identification technologies, among these are forensic applications. The objective of this study was to verify allele frequencies for 15 autosomal short tandem repeat (STR) loci and develop the first human DNA population database at the Bauru School of Dentistry, University of São Paulo (FOB/USP), for future forensic uses. Allele frequencies for these STR loci and an amelogenin gender marker were determined using 200 μL samples of saliva donated by 296 undergraduates from FOB/USP who were ≥ 18 years old at the time of the sample collect after signing a consent form with ethical approval. For laboratory tests, commercial kits were used. Results and statistical parameters were obtained using the following software: GeneMapper IDX (version 1.5), MS Excel 2002 (version 10.6871.6870), GenAlEx (version 6.5) and Arlequin (version 3.5) to compare four populations (Brazil, Portugal, U.S. and this study population). Results indicated that the most polymorphic loci were D18S51 (17 alleles) and FGA (15 alleles), followed by D21S11 (13 alleles); the least polymorphic loci were D16S539 and TH01 (7 alleles each). Various Brazilian populations (n > 100,000) from other studies were compared with this studys Brazilian population using a goodness-of-fit chi-squared test, and no significant differences in these frequencies were observed between these two population groups (p = 0.9999). Other forensic and population genetic statistical parameters were calculated comparing this studys population with Portugal and U.S. populations. For example, an analysis of molecular variance (AMOVA) among all populations, among people of the same population and for each person for each population, showed that people have high individual variance (99%) and that this variance is maintained evenly between people of the same sample/region (1%) and among the three populations studied (0%). This study reinforced the conclusion of other allele frequency population studies for the 15 autosomal STR loci tested, confirming high polymorphic grade and high heterozygosity (96.5%). There were significantly more women in the study (79.7%) when compared to the general Brazilian population (50.4%) since the student body of FOB/USP is 80.6% female. Interestingly, an off-ladder D18S51 allele micro-variance corresponding to the allele 29, not yet identified, was found which should be confirmed using paternity and sequencing tests to verify the possibility of either familial occurrence or nucleotide duplication. In the future, due to the small differences found, the parameters obtained in this study should be incorporated into the Brazilian population database and be considered for a regional population genetic prototype database potentially aiding forensic cases with comparisons and calculations. After confirmation, the potentially new micro variant allele found could be included in the international STRBase.

A fissura labiopalatina (FL/P) é uma das malformações craniofaciais mais comuns em humanos, com variação epidemiológica nas diferentes populações. Possui diferentes apresentações clínicas, divergindo de acordo com a extensão e estruturas acometidas, podendo acometer somente o lábio ou lábio e palato em conjunto, uni ou bilateralmente, de maneira completa ou incompleta ou apenas o palato (FP) tanto completa como incompletamente. Podem fazer parte de um quadro sindrômico, recebendo a denominação de FL/P sindrômica ou acontecer como um fenótipo isolado, sendo chamada de FL/P isolada ou não sindrômica. Em relação a etiologia da FL/P não sindrômica, a literatura afirma ser multifatorial com a predisposição genética associada a fatores ambientais. Apesar de se apresentarem frequentemente associadas, a FL/P e FP não sindrômicas são consideradas etiologicamente e embriologicamente distintas. Objetivo: Aprofundar e ampliar o conhecimento das FP isoladas não sindrômicas, descrevendo o fenótipo principal (FP isolada) e seus subfenótipos clínicos, investigando o fator genético relacionado à recorrência por meio do histórico familial e buscando elucidar possível fatores ambientais envolvidos por meio do histórico gestacional. Material e métodos: Foram coletados dados de 165 prontuários médicos de pacientes com FP isolada não sindrômica matriculados no Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo (HRAC-USP). Para a coleta desses dados foram analisados segmentos do prontuário referentes a atendimentos realizados no HRACUSP em diferentes setores. Resultados: Em 165 pacientes estudados, o sexo feminino foi o mais acometido com 106 casos (64,24%) encontrados. O tipo de FP predominante foi a incompleta correspondendo a 88,48% da amostra total, sendo dentre elas a fissura de palato duro parcial a mais prevalente. Em cinco casos não foi possível realizar a classificação nos grupos referentes ao tipo de fissura adotados, sendo necessária a criação de um grupo de classificação adicional. Recorrência familial positiva foi relatada em 28,47% de 144 casos em que havia informação, e na maioria das vezes havia apenas 1 outro familiar acometido. A média da idade das mães e dos pais no momento da concepção foi de 26,9 e 31,4 anos, respectivamente. A porcentagem de abortos anteriores foi de 11,95% dos 92 casos informados e a consanguinidade foi de 3,29% dos 91 casos informados. A intercorrência mais frequentemente relatada (25 em 154 casos informados) foi o uso de medicamentos, tais como, antibióticos, anti-hipertensivos e medicamentos que auxiliam na prevenção do parto prematuro. Conclusão: O fenótipo FP isolada possui variações quanto à extensão de cometimento, sendo que as fissuras incompletas foram as mais frequentes e o sexo feminino predominantemente acometido. Em relação ao histórico familial e gestacional os dados que mais chamaram atenção estão relacionados ao percentual de recorrência familial (28,47%) e o uso de medicação durante a gestação. Cleft lip and palate (CL/P) is one of the most common craniofacial malformations in humans, with epidemiological variation in different populations. It has different clinical presentations that diverge according to the extension and affected structures, and may either affect the lip or lip and palate together, unilaterally or bilaterally, in a complete or incomplete way or just affect the palate (CP) completely or incompletely. CL/P can either be related to a syndrome, classified as syndromic CL/P or unrelated to a syndrome, occurring as an isolated phenotype, designated as isolated or nonsyndromic CL/P. Regarding the etiology of nonsyndromic CL/P, research indicates multifactorial causes with a genetic predisposition associated with environmental factors. Although it is often present in association, nonsyndromic CL/P and CP are considered embryologically and etiologically distinct. Objective: To deepen and broaden the knowledge of individual nonsyndromic CP, describing the main phenotype (isolated CP) and its clinical subphenotypes, investigating the genetic factors related to recurrence through family history and to elucidate possible environmental factors involving gestational history. Material and Methods: Data were collected from 165 medical patients records with isolated nonsyndromic CP enrolled at the Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo (HRAC-USP). For data collection, segments of the records pertaining to care provided by HRAC-USP in different sectors were analyzed. Results: In the 165 patients studied, females were the most affected with 106 cases (64.24%) found. The predominant type of CP was incomplete corresponding to 88.48% of the total sample, and among these incomplete CP, the clefts involving partial hard palate were the most prevalent. In five cases it was impossible to classify the type of cleft, and the creation of an additional classification group was required. Positive familial recurrence was reported in 28.47% of 144 cases where information was available and in most cases there was only one other affected family member. The average age of mothers and fathers at conception was 26.9 and 31.4 years respectively. The percentage of previous miscarriages was 11.95% of the 92 reported cases and consanguineous marriage was found in 3.29% of the 91 reported cases. The most frequently reported complication (25 in 154 reported cases) was the use of drugs such as antibiotics, antihypertensives drugs, and drugs used to prevent premature birth. Conclusion: The phenotype Isolated CP presents variations in the extent of involvement, and incomplete clefts were the most frequent, with females predominantly affected. Regarding family history and gestational data what calls more attention were the percentage of familial recurrence (28.47%) and the use of medication during pregnancy.

A fissura labiopalatina é a anomalia craniofacial mais comum nos seres humanos e em relação à cavidade bucal a agenesia dentária se apresenta mais prevalente em indivíduos com fissuras labiopalatinas do que na população em geral. Esses fenótipos têm sido considerados decorrentes de alterações do desenvolvimento embrionário e ocorrem como resultado da interação de fatores genéticos e ambientais, caracterizando uma etiologia multifatorial. Tem sido apontado que a função anormal de alguns genes que possuem papel na formação craniofacial e dentária poderia estar relacionada à etiologia desses fenótipos. Dentre os genes candidatos para esses fenótipos têm se destacado o MSX1 entre outros. Dessa forma, o objetivo do trabalho foi avaliar a associação entre o polimorfismo no gene MSX1 (rs12532) com os fenótipos fissura labiopalatina e agenesia dentária não sindrômicos isolados ou em associação. A amostra foi composta por 222 indivíduos divididos em 4 grupos: grupo 1, indivíduos com fissura e agenesia dentária; grupo 2, indivíduos com fissura sem agenesia dentária; grupo 3, indivíduos com agenesia dentária sem fissura e grupo 4, controle (sem agenesia e sem fissura). Foi realizada a extração do DNA genômico a partir da saliva coletada dos indivíduos. O polimorfismo no gene MSX1 (rs12532) foi estudado por meio de Reação em cadeia da Polimerase em tempo real (PCR Real Time) utilizando o ensaio Taqman (Applied Biosystems). O teste do qui-quadrado (p

A lesão central de células gigantes (LCCG) é uma afecção benigna dos maxilares, de comportamento biológico incerto, variando de discreta tumefação assintomática e de crescimento lento à uma forma agressiva, associada a dor, reabsorção radicular e óssea, com destruição cortical. Sua etiologia permanece desconhecida, havendo controvérsias entre processo reacional, neoplásico ou genético. Mutações no gene SH3BP2 foram identificadas em pacientes com querubismo, condição que compartilha várias características clínicas, radiográficas e histopatológicas com a LCCG. Para testar a hipótese de que tais mutações seriam responsáveis por, ou estariam associadas a LCCG e na tentativa de melhor entender a diferenciação microscópica/morfométrica das lesões agressivas e não agressivas, vinte e cinco pacientes portadores de LCCG foram selecionados para o estudo. O DNA foi obtido através do sangue e de espécimes em blocos de parafina, oriundos de biópsias e tratamento cirúrgico. Um estudo microscópico morfométrico foi paralelamente realizado, para avaliar o número de células gigantes e densidade de volume das mesmas nas lesões agressivas e não agressivas. O sequenciamento genético dos treze exons do gene SH3BP2 nos vinte e cinco pacientes estudados evidenciou uma alteração no códon do exon 4 em 10 pacientes. A densidade de volume de células gigantes foi maior nas lesões agressivas quando comparadas às não agressivas (p=0,013). Não houve diferença significante quanto ao número de células gigantes/mm2 em lesões agressivas e não agressivas (p =0,245). Central giant cell lesion (CGCL) is a benign disease of the jaws, with uncertain behavior, ranging from mild asymptomatic slow-growing swelling to an aggressive form, with pain, radicular and bone resorption and cortical destruction. Its aetiology is still unknown and there is discussion whether it is a reactive, neoplastic or genetic disease. Mutations on gene SH3BP3 were identified in patients with cherubism, which shares several clinical, radiographic and histopathological features with CGCL. In order to test the hypothesis that such mutations would be responsible for or would be related to CGCL and also in order to better understand microscopic morphometric differentiation of the aggressive and non-aggressive lesions, 25 patients with CGCL were selected to this study. DNA was extracted from blood samples and from tissue samples, obtained by biopsy or surgical treatment. Microscopic morphometric assessment was also performed, in order to evaluate the number and the volume density of the giant cells in aggressive and in non-aggressive lesions. Gene sequencing of all 13 exons in gene SH3BP3, performed on each of the 25 patients, showed an alteration in one codon from exon 4, in ten patients. Volume density of giant cells was greater in aggressive lesions than in non-aggressive ones (p=0,013). There was no significant difference on the number of giant cells per mm2 when comparing aggressive and non-aggressive lesions.