Prosthetic Treatments for Patients With Oronasal Communication

The prosthetic treatments play a role in the rehabilitation of patients with congenital and acquired cleft palate. To prepare the surgical field and/or correct inevitable sequelae of the surgery, the rehabilitation with obturator prosthesis is an auxiliary or complementary treatment to surgical treatments. In cases where the surgical treatment is contraindicated, the prosthetic rehabilitation becomes a definitive treatment. The denture is planned and fabricated according to each patient. Therefore, the aim of this study was to discuss the prosthetic rehabilitation performed in patients with oronasal communication.

Rehabilitation with ear prosthesis linked to osseointegrated implants

Background: The absence of an ear, which can be the result of a congenital malformation, surgical tumour resection or traumatic injury, is a significant aesthetic problem. Attachment of ear prostheses with adhesives can cause local irritation for the wearer and affect the colour of the prostheses. Use of implants in craniofacial reconstruction can improve the retention and stability of prostheses giving to patient greater comfort and security relative to adhesive attachment.Objective: The aim of this report was to present a clinical case of a mutilated patient who was rehabilitated by means of installing an ear prosthesis fixed through osseointegrated implants.Materials and methods: The patient had two implants installed in the mastoid region that were linked by a bar, and a clip-type system was used. The ear prosthesis was constructed from medical-use silicone, pigmented to match the patient's skin colour and linked to the retention system.Conclusion: The patient's rehabilitation was satisfactory from both a functional and an aesthetic point of view, making it possible for the patient to return to a normal social life and regain lost self-esteem.

Solutions for Nasal Defects

Many studies on defects caused by trauma, infection, cancer, or congenital are reported in the literature; in nasal reconstructions, contradictions and distinct techniques exist that can be argued. Using the literature, we observe these distinct techniques that call be surgery or in surgery to reestablish and to integrate the patient with satisfaction in the society.

Palatal lymphangioma: A case report

Lymphangioma is a rare, congenital benign tumor involving vascular malformation, with a great potential for recurrence. It appears during the early years of life and therefore is highly common among children. We report here a five-year-old patient with a simple lymphangioma. The mother of the child reported she had noted the lesion in the palate after an injury in the area with a pen. The recommended treatment was surgical excision since this was a small and well-delimited lesion. Periodic clinical controls for 18 months showed that the mucosa presented normal characteristics, with no signs of recurrence.

Síndrome do incisivo central superior solitário: relato de caso

INTRODUÇÃO: a presença de um incisivo central superior solitário é um evento bastante incomum na população. A prevalência da chamada Síndrome do Incisivo Central Superior Solitário (SICSS) é verificada em 1:50.000 nascimentos, sendo registrado um maior acometimento no sexo feminino. Essa alteração no desenvolvimento da oclusão dentária é caracterizada por más formações estruturais, sobretudo na região de linha média do paciente. O diagnóstico precoce e o tratamento adequado dessa síndrome são de grande importância, pois essa condição talvez seja um indicativo de que o paciente pode apresentar outras más formações congênitas severas, não devendo ser a SICSS considerada uma simples anomalia dentária. Os procedimentos ortodônticos, nesses casos, variam dependendo do grau de comprometimento das estruturas ósseas da maxila, da oclusão em si, e principalmente da sutura palatina mediana. OBJETIVO: discutir, baseado em evidências científicas, aspectos importantes relacionados à SICSS, bem como apresentar um caso clínico de paciente do sexo feminino com SICSS, que foi submetida a tratamento ortodôntico na Clínica Odontológica Integrada Infantil da Universidade Federal de Santa Maria (UFSM) / RS. CONCLUSÃO: pela análise crítica da literatura, verifica-se ser muito importante o diagnóstico correto e precoce acerca dessa síndrome, visto que há possibilidade da mesma estar associada a outros problemas de desenvolvimento. Além disso, o paciente acometido pela SICSS deve ser assistido por uma equipe multidisciplinar de saúde, de forma a otimizar os resultados clínicos e devolver-lhe qualidade de vida.

Moebius Syndrome: Clinical Manifestations in a Pediatric Patient

Moebius syndrome is a congenital, nonprogressive disorder clinically characterized by loss of facial expression, impaired stomatognathic system functions, incapacity to close the eyelids, and several oral impairments. The purpose of this paper was to present the clinical manifestations and the dental treatment in a 5-year, 2-month-old male Moebius syndrome patient. The child presented with facial asymmetry, difficulty performing facial mimic movements and pronouncing some letters, and compromised suction, mastication, breathing, and deglutition. An intraoral examination revealed hypofunction of the perioral muscles, cheeks and tongue, ankyloglossia, anterior open bite, and absence of carious lesions and dental anomalies. The dental treatment consisted of frenectomy and further placement of a removable orthodontic appliance with a palatal crib for correction of the anterior open bite. After 12 months of follow-up, anterior open bite decreased and speech, deglutition, and mastication improved. (Pediatr Dent 2009;31:289-93) Received March 8, 2008 vertical bar Lost Revision July 22, 2008 vertical bar Revision Accepted July 28, 2008

Association between PAX-9 promoter polymorphisms and hypodontia in humans

Hypodontia, the congenital absence of one or a few teeth, is one of the most common alterations of the human dentition. The most common permanent missing teeth are the third molars, second premolars, and maxitlary lateral incisors. Hypodontia does not represent a serious public health problem, but it may cause masticatory and speech dysfunctions, and esthetic problems. PAX9 is believed to play an important rote in tooth development. It is expressed at initiation, bud, cap, and bell stages of odontogenesis. Mutations in PAX9 coding sequences have been implicated in autosomal dominant oligodontia affecting predominantly permanent molars and second premolars. Here, we report two polymorphisms in the promoter region of PAX9 gene that are associated with hypodontia. DNA was extracted from buccal epithelial. cells of 106 healthy Control individuals and of 102 unrelated individuals with hypodontia. PCR-RFLP was employed in the investigation of G-1031A and T-912C polymorphisms. Significant differences were obtained comparing Control and Test groups. Alleles G and T were found at a significant higher frequency in individuals with hypodontia, whereas alleles A and C were more frequent in Control subjects, p = 0.0094 and 0.0086, respectively. The GT haplotype was significantly more prevalent in the hypodontia group, white the AC haplotype was more frequent in the Control group. These results indicate that polymorphisms in the promoter region of PAX9 gene may have an influence on the transcriptional activity of this gene and are associated with hypodontia in humans. (c) 2005 Elsevier Ltd. AR rights reserved.

Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene

Acheiropodia is an autosomal recessive developmental disorder presenting with bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. This severely handicapping condition appears to affect only the extremities, with no other systemic manifestations reported. Recently, a locus for acheiropodia was mapped on chromosome 7q36. Herein we report the narrowing of the critical region for the acheiropodia gene and the subsequent identification of a common mutation in C7orf2-the human orthologue of the mouse Lmbr1 gene-that is responsible for the disease. Analysis of five families with acheiropodia, by means of 15 polymorphic markers, narrowed the critical region to 1.3 cM, on the basis of identity by descent, and to <0.5 Mb, on the basis of physical mapping. Analysis of C7orf2, the human orthologue of the mouse Lmbr1 gene, identified a deletion in all five families, thus identifying a common acheiropodia mutation. The deletion was identified at both the genomic-DNA and mRNA level. It leads to the production of a C7orf2 transcript lacking exon 4 and introduces a premature stop codon downstream of exon 3. Given the nature of the acheiropodia phenotype, it appears likely that the Lmbr1 gene plays an important role in limb development.

Oral cleft prevention program (OCPP)

Background: Oral clefts are one of the most common birth defects with significant medical, psychosocial, and economic ramifications. Oral clefts have a complex etiology with genetic and environmental risk factors. There are suggestive results for decreased risks of cleft occurrence and recurrence with folic acid supplements taken at preconception and during pregnancy with a stronger evidence for higher than lower doses in preventing recurrence. Yet previous studies have suffered from considerable design limitations particularly non-randomization into treatment. There is also well-documented effectiveness for folic acid in preventing neural tube defect occurrence at 0.4 mg and recurrence with 4 mg. Given the substantial burden of clefting on the individual and the family and the supportive data for the effectiveness of folic acid supplementation as well as its low cost, a randomized clinical trial of the effectiveness of high versus low dose folic acid for prevention of cleft recurrence is warranted.Methods/design: This study will assess the effect of 4 mg and 0.4 mg doses of folic acid, taken on a daily basis during preconception and up to 3 months of pregnancy by women who are at risk of having a child with nonsyndromic cleft lip with/without palate (NSCL/P), on the recurrence of NSCL/P. The total sample will include about 6,000 women (that either have NSCL/P or that have at least one child with NSCL/P) randomly assigned to the 4 mg and the 0.4 mg folic acid study groups. The study will also compare the recurrence rates of NSCL/P in the total sample of subjects, as well as the two study groups (4mg, 0.4 mg) to that of a historical control group. The study has been approved by IRBs (ethics committees) of all involved sites. Results will be disseminated through publications and presentations at scientific meetings.Discussion: The costs related to oral clefts are high, including long term psychological and socio-economic effects. This study provides an opportunity for huge savings in not only money but the overall quality of life. This may help establish more specific clinical guidelines for oral cleft prevention so that the intervention can be better tailored for at-risk women.

Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Fetotoxicity caused by the interaction between zinc and arsenic in mice

Arsenic is an environmental pollutant that induces congenital malformations in experimental models and can contribute to human birth defects. The environmental exposure to arsenic is relatively small when compared with the doses required to cause teratogenicity in mice and other laboratory animals. In order to study the action of zinc in the arsenic-induced teratogenicity, in the present work mice were either pretreated with zinc and later with arsenic or were treated simultaneously with zinc and arsenic in vivo and in vitro. Following administration of arsenate on gestation day 8, pregnant females were killed on the 17th day of gestation; maternal and fetal data were collected by laparotomy and used to calculate reproductive parameters. Fetuses were analyzed for the presence of external malformation and, after the appropriate processing, visceral and skeletal analyses were accomplished. Conceptuses were exposed in whole embryo culture to arsenicals on gestation day 8 (3-6 somite stage). After a 26 h culture period, morphological development was assessed. Neither pretreatment with zinc nor simultaneous administration of zinc prevented arsenic teratogenicity in these experimental models. (C) 2002 Wiley-Liss, Inc.

Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae

Congenital ectropion uveae is a rare, nonprogressive anomaly characterized by the presence of iris pigment epithelium on the anterior surface of the iris stroma and is occasionally associated with Rieger's anomaly, Prader-Willi syndrome and neurofibromatosis type 1 (NF1). The most important complication of ectropion uveae is congenital or juvenile glaucoma. We described a patient with ectropion and the mutation R1748X in the NF1 gene. This is the third report in the literature describing ectropion associated with neurofibromatosis. If this association is confirmed by other authors, the NF1 patients should be examined for the presence of ectropion and, consequently, for the development of glaucoma. Copyright (C) 2004 S. Karger AG, Basel.

Glicemia perioperatória e complicações pós-operatórias em cirurgia cardíaca pediátrica

FUNDAMENTO: Anestesia para cirurgia cardíaca pediátrica é sistematicamente realizada em pacientes graves sob condições fisiológicas anormais. No intraoperatório, existem variações significativas da volemia, temperatura corporal, composição plasmática e fluxo sanguíneo tecidual, além de ativação da inflamação, com consequências importantes. Medidas seriadas da glicemia podem indicar estados de exacerbação da resposta neuroendocrinometabólica ao trauma servindo como marcadores prognóstico de morbidade nessa população. OBJETIVO: Correlacionar os níveis de glicemia do período perioperatório de crianças submetidas a cirurgia cardíaca com a ocorrência de complicações no pós-operatório e comparar os níveis intraoperatórios de glicemia de acordo com as condições perioperatórias. MÉTODOS: Informações referentes ao procedimento anestésico-cirúrgico e condições perioperatórias dos pacientes foram coletadas em prontuário. Comparações das médias dos valores perioperatórios da glicemia nos grupos de pacientes que apresentaram, ou não, complicações pós-operatórias e as frequências referentes às condições perioperatórias foram estabelecidas conforme cálculo da razão de chances e em análises univariáveis não paramétricas. RESULTADOS: Valores mais elevados de glicemia intraoperatória foram observados nos indivíduos que apresentaram complicações pós-operatórias. Prematuridade, faixa etária, tipo de anestesia e caráter do procedimento não apresentaram influência na média glicêmica do intraoperatório. O emprego de Circulação Extracorpórea (CEC) esteve associado a maiores valores de glicemia durante a cirurgia. Nos procedimentos com CEC, maiores níveis glicêmicos foram observados nos indivíduos que evoluíram com infecção e complicações cardiovasculares, nas cirurgias sem CEC essa mesma associação ocorreu com complicações infecciosas e hematológicas. CONCLUSÃO: Níveis intraoperatórios mais elevados de glicemia estão associados com maior morbidade no pós-operatório de cirurgia cardíaca pediátrica.

Amplificação por condução óssea em malformações congênitas: benefício e satisfação

A deficiência auditiva é um dos achados clínicos mais comuns em sujeitos com malformações de orelha. O tratamento consiste em realizar a cirurgia e/ou adaptar o aparelho de amplificação sonora por via óssea (AASI VO). A intervenção precoce é fundamental para favorecer a estimulação auditiva e desenvolvimento da fala e linguagem. OBJETIVO: Caracterizar o perfil audiológico de sujeitos com malformação congênita de orelha externa e/ou média e avaliar o benefício e a satisfação destes com o uso de AASI VO. MÉTODO: Estudo descritivo, sujeitos com malformações congênitas bilaterais de orelha externa e/ou média, deficiência auditiva condutiva ou mista, moderada ou grave e usuários de AASI VO. Avaliação do benefício utilizando teste de reconhecimento de sentenças com ruído competitivo e medidas de ganho funcional e avaliação da satisfação utilizando questionário internacional QI - AASI. RESULTADOS: Foram avaliados 13 sujeitos, sendo 61% do sexo masculino e 80% com deficiência auditiva condutiva moderada ou grave. Houve melhor desempenho na avaliação proposta na condição com AASI, quando comparada à condição sem AASI. CONCLUSÃO: Os AASI VO retroauriculares apresentaram vantagens para a população estudada e devem ser considerados como uma opção para intervenção. A satisfação foi confirmada pelos escores elevados obtidos no QI - AASI.

Sobrevida e morbidade em prematuros com menos de 32 semanas de gestação na região central do Brasil

OBJETIVO: Avaliar a sobrevida e complicações associadas à prematuridade em recém-nascidos com menos de 32 semanas. MÉTODOS: Estudo prospectivo do tipo coorte. Foram incluídos os nascidos vivos, com idade gestacional entre 25 semanas e 31 semanas e 6 dias, sem anomalias congênitas admitidos em UTI Neonatal, entre 1º de agosto de 2009 e 31 de outubro de 2010. Os recém-nascidos foram estratificados em três grupos: G25, 25 a 27 semanas e 6 dias; G28, 28 a 29 semanas e 6 dias; G30, 30 a 31 semanas e 6 dias, e acompanhados até 28 dias. Foram avaliadas a sobrevida aos 28 dias e a morbidade associadas à prematuridade. Para análise dos resultados, utilizou-se o teste do c², análise de variância, teste de Kruskal-Wallis, razão de risco com intervalo de confiança (IC) e regressão logística múltipla, com significância em 5%. RESULTADOS: A coorte compreendeu 198 prematuros, sendo G25=59, G28=43 e G30=96. O risco de óbito foi significativamente maior em G25 e G28, em relação ao G30 (RR=4,1; IC95% 2,2-7,6 e RR=2,8; IC95% 1,4-5,7). A sobrevida encontrada foi, respectivamente, 52,5, 67,4 e 88,5%. A partir da 26ª semana e peso >700 g, a sobrevida foi superior a 50%. A morbidade foi inversamente proporcional à idade gestacional, exceto para enterocolite necrosante e leucomalácia, que não diferiram entre os grupos. A análise de regressão logística mostrou que a hemorragia pulmonar (OR=3,3; IC95% 1,4-7,9) e a síndrome do desconforto respiratório (OR=2,5; IC95% 1,1-6,1) foram fatores independentes de risco para óbito. Houve predomínio das lesões cerebrais hemorrágicas graves em G25. CONCLUSÕES: Sobrevivência superior a 50% ocorreu a partir da 26ª semana de gravidez e peso >700 g. A hemorragia pulmonar e a síndrome do desconforto respiratório foram preditores independentes de óbito. Há necessidade de identificar e instituir práticas para melhorar a sobrevida de prematuros extremos.