Anatomical changes and audiological profile in branchio-oto-renal syndrome: a literature review

Introduction  Branchio-oto-renal (BOR) syndrome is an autosomal-dominant genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000. Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at chromosomal region 8q13.3, and 5% have mutations in the gene SIX5 in chromosome region 19q13. The phenotype of this syndrome is characterized by preauricular fistulas; structural malformations of the external, middle, and inner ears; branchial fistulas; renal disorders; cleft palate; and variable type and degree of hearing loss. Aim  Hearing loss is part of BOR syndrome phenotype. The aim of this study was to present a literature review on the anatomical aspects and audiological profile of BOR syndrome. Data Synthesis  Thirty-four studies were selected for analysis. Some aspects when specifying the phenotype of BOR syndrome are controversial, especially those issues related to the audiological profile in which there was variability on auditory standard, hearing loss progression, and type and degree of the hearing loss. Mixed loss was the most common type of hearing loss among the studies; however, there was no consensus among studies regarding the degree of the hearing loss.

Associações entre indicadores emocionais maternos para depressão, ansiedade e estresse e problemas comportamentais de crianças com fissura labiopalatina

Pós-graduação em Psicologia do Desenvolvimento e Aprendizagem - FC

Postsurgical Alveolar Bone Graft Patients: Elaboration and Application of a Data-Gathering Instrument for Nutrition and Nursing

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Planejamento protético para pacientes adultos portadores de fissura labiopalatal congênita, que não obtiveram oportunidade de um tratamento reabilitador ideal: execução de casos clínicos para pacientes selecionados

Although one cannot prevent the birth of human beings with cleft palate lesions one can adopt attitudes and various procedures entirely viable to rehabilitate and recuperate these persons through a team work composed of the facilities of a hospital, physician, dentist, psychotherapist, epeech pathologist, pedagogue and a social worker. In order to reduce the suffering of these patients we took up this work to prove that even if not in an ideal manner nevertheleses in an acceptable one we can reintegrate these persons to their families, friends and social milieu, offering them more security in their social, psychic and human relationships. We have made a review of the literature during the last three decades where we found many possibilities of prosthetic recuperations which concerns esthetics, mastication and maxillomandibular relationships beyond allowing these pacients conditions to perform satisfactory the functions of deglution and speech. We have selected and executed 5 clinical cases out of 15 pacients formely choosen looking to different prosthetic plannings. We have also shown the major contribution that the osseous integrated implants can offer to the rehabilitation and recuperation of pacients whith congenitall labio palatal lesions. To simplify the understanding we tried to discuss the most varied types of prosthesis in well defined subjects having a separate approach for each of them and we still showed that the specificity of each case leads to a specific type of rehabilitation founded om esthetics, occlusion, osseous suport, edentulous space, and above all based in the common sense and Professional integrity

Distúrbios funcionais da oclusão e sua correlação com radiografias transcranianas da articulação temporomandibular, em pacientes portadores de fissuras labiopalatais

Anamnesis, clinical examinations and temporomandibular joint transcraneal radiographs for 22 adults with cleft lip and palate were carried out in order to evaluate the occlusion and correlate it with radographic findings. The conclusions were: 72.8% of the patients have at least one sign or symptom of craniomandibular disorders (CMD); although the occlusal conditions were severely altered, most of the signs and symptoms were classified as mild; the greater frequency of the signs and symptoms occurred among women; in the radiographic evaluation, all of the assymptomatic patients had both condyles with normal contour and all of the patients with altered contour had at least one sign or symptom; the bilateral centered position of the condyles in the fossa e did not warrant the absence of signs and symptoms; some patients with bilateral condyles positioned posteriorly or caudally or even assimetrically, did not present signs and symptoms of dysfunction; the radiographic findings should be correlated with clinical findings; and a great number of patients were not observed with clinical board of C:MD caused by the occlusion. Key words: Radiography; temporomandibular joint; temporomandibular joint syndrome; cleft palate; dental occlusion

Ocorrência de ceceio em fricativas vozeadas e não vozeadas em crianças com fissura labiopalatina operada

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Frontonasal dysplasia: clinical evaluation on audiological and brainstem electrophysiological profiles

Frontonasal dysplasia (FND) is a rare malformative complex affecting the frontal portion of the face, the eyes and the nose; it may occur singly or associated with other clinical signs. No systematic studies describing hearing in this condition were found. AIM: To evaluate hearing sensitivity and sound stimulus conduction from cochlea to brainstem in patients with clinical signs of FND. METHODS: 21 patients with isolated or syndromic FND were submitted to a clinical (otological/vestibular antecedents and otoscopy) and instrumental (pure tone and speech audiometry, tympanometry and brainstem auditory evoked response) hearing evaluation. DESIGN: A clinical, cross-sectional observational prospective study. RESULTS: Hearing thresholds were normal in 15 (70%) patients, abnormal in 5 (25%), mostly with conductive hearing loss; one patient did not cooperate with testing. The tympanometric curve was type A in 30 (72%) ears, type C in 5 (12%), type As in 4 (9%) and type B in 3 (7%). The auditory brainstem response (ABR) showed no abnormalities. CONCLUSION: Patients with FND showed no abnormalities in the auditory system from cochlea to brainstem in this study. Mild conductive hearing loss found in some is probably related to cleft palate. Further evaluation of hearing pathways at higher levels is recommended.

Fixação do enxerto ósseo autógeno em bloco com adesivos a base de cianoacrilato ou parafuso de titânio: estudo histológico em coelhos

Pós-graduação em Odontologia - FOA

Nasalance during use of pharyngeal and glottal place of production

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Impact of inter-judge agreement on perceptual judgment of nasality

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals. We present detailed clinical findings in 12 unrelated individuals with MFDM; these 12 individuals compose the largest reported cohort to date. To define the etiology of MFDM, we employed whole-exome sequencing of four unrelated affected individuals and identified heterozygous mutations or deletions of EFTUD2 in all four. Validation studies of eight additional individuals with MFDM demonstrated causative EFTUD2 mutations in all affected individuals tested. A range of EPTUD2-mutation types, including null alleles and frameshifts, is seen in MFDM, consistent with haploinsufficiency; segregation is de novo in all cases assessed to date. U5-116kD, the protein encoded by EFTUD2, is a highly conserved spliceosomal GTPase with a central regulatory role in catalytic splicing and post-splicing-complex disassembly. MFDM is the fast multiple-malformation syndrome attributed to a defect of the major spliceosome. Our findings significantly extend the range of reported spliceosomal phenotypes in humans and pave the way for further investigation in related conditions such as Treacher Collins syndrome.

Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome

Most patients with Kabuki syndrome (KS) are the only person in their family with the condition. However, familial cases of KS have been described showing evidence that this syndrome can be inherited as a dominant trait with variable expressivity. We report on two related individuals with facial findings characteristic of KS. The proposita had arched eyebrows, long and upward slanting palpebral fissures, cleft lip and palate, retromicrognathia, brachydactyly of hands and feet, stubby fingers, nail hypoplasia, and prominent finger pads. Her mother had eyebrows with dispersed lateral half, long and upward slanting palpebral fissures, retrognathia, abnormal and posteriorly rotated ears, prominent finger pads, brachydactyly of feet, learning difficulties, and psychomotor development delay. DNA sequencing revealed a novel missense mutation in the MLL2 gene in both the proposita and her mother. The mutation (p.R5432Q) was found in the exon 51, within the SET domain of the gene, which confers methyltransferase activity on the protein. Therefore, the epigenetic and transcriptional regulatory properties of this protein may be altered and this suggests that the mutation is the cause of phenotype observed in both the patient and her mother. The clinical signs and the molecular evidence in this family further support the notion that KS is an autosomal dominant condition with variable expressivity. To our knowledge this is the first report of a Brazilian family with recurrence of this syndrome. (C) 2012 Wiley Periodicals, Inc.

Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia

We report on a boy presenting submucous cleft palate, hydronephrosis, ventriculoseptal defect, aniridia, and developmental delay. Additional material on 11p13 was cytogenetically visible and array analyses identified a duplicated segment on 15q25-26 chromosome region; further, array analyses revealed a small deletion (49?kb) at 11p13 region involving the ELP4 gene and a duplication at 8p23.1. Results were confirmed with both molecular and molecular cytogenetics techniques. Possibilities for etiological basis of clinical phenotype are discussed. (c) 2012 Wiley Periodicals, Inc.

Region 8q24 Is a Susceptibility Locus for Nonsyndromic Oral Clefting in Brazil

BACKGROUND: Nonsyndromic cleft lip with or without cleft palate is a relatively common craniofacial defect with multifactorial inheritance. The association of the rs987525 single nucleotide variant, located in a gene desert at 8q24.21 region, has been consistently replicated in European populations. We performed a structured association approach combined with transcriptional analysis of the MYC gene to dissect the role of rs987525 in oral clefting susceptibility in the ethnically admixed Brazilian population. METHODS: We performed the association study conditioned on the individual ancestry proportions in a sample of 563 patients and 336 controls, and in an independent sample of 221 patients and 261 controls. The correlation between rs987525 genotypes and MYC transcriptional levels in orbicularis oris muscle mesenchymal stem cells was also investigated in 42 patients and 4 controls. RESULTS: We found a significant association in the larger sample (p = 0.0016; OR = 1.80 [95% confidence interval {CI}, 1.21-2.69], for heterozygous genotype, and 2.71 [95% CI, 1.47-4.96] for homozygous genotype). We did not find a significant correlation between rs987525 genotypes and MYC transcriptional levels (p = 0.14; r = -0.22, Spearman Correlation). CONCLUSIONS: We present a positive association of rs987525 in the Brazilian population for the first time, and it is likely that the European contribution to our population is driving this association. We also cannot discard a role of rs987515 in MYC regulation, because this locus behaves as an expression quantitative locus of MYC in another tissue. Birth Defects Research (Part A) 94:464-468, 2012. (C) 2012 Wiley Periodicals, Inc.

Facial Profile Evaluation of Isolated Pierre Robin Sequence

Objective: To evaluate numerically the facial profile of children with isolated Pierre Robin sequence (PRS) and to compare them with a control group that has no pathologies and exhibits regular and balanced facial growth, with no skeletal alterations. Patients: Eighty-three children aged 5 to 10 years (PRS group, n = 60; control group, n = 23) were selected. Setting: Hospital for Rehabilitation of Craniofacial Anomalies, University of Sao Paulo (HRAC-USP). Children from the control group were taken from the program of Interceptive Orthodontics at HRAC-USP. Design: Angular and ratio analyses of the facial profiles in both groups were realized through digital photographs. The PRS group was subdivided into two groups-complete and incomplete-according to the sagittal extension of the cleft palate, to investigate the possible influence of cleft extension on the face. Results: The facial convexity angle and the facial inferior third angle were considerably higher in the PRS groups than in the control group and were not significantly different between PRS groups. Nasolabial angle did not differ between groups. Conclusion: The facial profile was more convex in individuals with PRS than in those with regular facial growth and with no pathology. The mandible was responsible for the convexity of the profile in PRS because of its lack off anterior projection. An important relationship between the extension of the cleft palate and alterations in facial profile in PRS was not observed.