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.

Congenital fistulae of the lower lip in Van der Woude syndrome: A histomorphological study

Objective: To evaluate a significant number of cases of fistulae of the lower lip with the light microscope in order to investigate the histological variation and to attempt to define the histopathological pattern of the lesion.Methods: Congenital fistulae of the lower lips of 17 patients with Van der Woude syndrome were analyzed by light microscopy,Results and Conclusion: the walls of most of the fistulae consisted of stratified nonkeratinized squamous epithelium and a lamina propria of dense connective tissue with areas of lymphohistiocytic inflammatory infiltrates. Bundles of striated muscle fibers, blood vessels, nerves, adipose tissue, and mixed acinar glands were observed. These glands surrounded the entire wall of the lesion, and their excretory ducts opened into the lumen of the fistula, explaining the clinical observation of elimination of mucous secretion through the opening of the fistula, Two microform cases of fistula were analyzed that presented only a depression in the epithelium at the site corresponding to the opening of the fistula.

Comparison of Photodynamic Therapy versus conventional antifungal therapy for the treatment of denture stomatitis: a randomized clinical trial

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

Toxicity of photodynamic therapy with LED associated to Photogem (R): An in vivo study

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

IGFR-I expression and structural analysis of the hard palatine mucosa in an ethanol-drinking rat strain (UChA and UChB)

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Interferon regulatory factor 6 (IRF6) belongs to a family of nine transcription factors that share a highly conserved helix-turn-helix DNA-binding domain and a less conserved protein-binding domain. Most IRFs regulate the expression of interferon-alpha and -beta after viral infection(1), but the function of IRF6 is unknown. The gene encoding IRF6 is located in the critical region for the Van der Woude syndrome (VWS; OMIM 119300) locus at chromosome 1q32-q41 (refs 2,3). The disorder is an autosomal dominant form of cleft lip and palate with lip pits(4), and is the most common syndromic form of cleft lip or palate. Popliteal pterygium syndrome (PPS; OMIM 119500) is a disorder with a similar orofacial phenotype that also includes skin and genital anomalies(5). Phenotypic overlap(6) and linkage data(7) suggest that these two disorders are allelic. We found a nonsense mutation in IRF6 in the affected twin of a pair of monozygotic twins who were discordant for VWS. Subsequently, we identified mutations in IRF6 in 45 additional unrelated families affected with VWS and distinct mutations in 13 families affected with PPS. Expression analyses showed high levels of Irf6 mRNA along the medial edge of the fusing palate, tooth buds, hair follicles, genitalia and skin. Our observations demonstrate that haploinsufficiency of IRF6 disrupts orofacial development and are consistent with dominant-negative mutations disturbing development of the skin and genitalia.

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic Mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. Methods: We performed direct sequence analysis of interferon regulatory factor 6 exons oil samples from three collections, two with Van der Woude and one with popliteal pterygium syndrome. Results: We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 exons in each collection was not random; exons 3, 4, 7, and 9 accounted for 80%. In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. Further, the missense mutations associated with popliteal pterygium syndrome were localized significantly to exon 4, at residues that are predicted to bind directly to DNA. Conclusion: The nonrandom distribution of mutations in the interferon regulatory factor 6 exons suggests a two-tier approach for efficient mutation screens for interferon regulatory factor 6. The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6. Oil the other hand, the distribution of popliteal pterygium syndrome-associated mutations suggests a different, though not mutually exclusive, effect oil interferon regulatory factor 6 function. Genet Med 2009:11(4):241-247.

Genomic Strategy Identifies a Missense Mutation in WD-Repeat Domain 65 (WDR65) in an Individual With Van der Woude Syndrome

Genetic variation in the transcription factor interferon regulatory factor 6 (IRF6) causes and contributes risk for oral clefting disorders. We hypothesized that genes regulated by IRF6 are also involved in oral clefting disorders. We used five criteria to identify potential IRF6 target genes; differential gene expression in skin taken from wild-type and Irf6-deficient murine embryos, localization to the Van der Woude syndrome 2 (VWS2) locus at 1p36-1p32, overlapping expression with Irf6, presence of a conserved predicted-binding site in the promoter region, and a mutant murine phenotype that was similar to the Irf6 mutant mouse. Previously, we observed altered expression for 573 genes; 13 were located in the murine region syntenic to the VWS2 locus. Two of these genes, Wdr65 and Stratifin, met 4 of 5 criteria. Wdr65 was a novel gene that encoded a predicted protein of 1,250 amino acids with two WD domains. As potential targets for Irf6 regulation, we hypothesized that disease-causing mutations will be found in WDR65 and Stratifin in individuals with VWS or VWS-like syndromes. We identified a potentially etiologic missense mutation in WDR65 in a person with VWS who does not have an exonic mutation in IRF6. The expression and mutation data were consistent with the hypothesis that WDR65 was a novel gene involved in oral clefting. (C) 2011 Wiley-Liss, Inc.

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.

The prevalence of human papillomavirus in the oropharynx in healthy individuals in a Brazilian population

Oncogenic human papillomavirus (HPV), a causative agent of uterine cervical cancer, has also been detected in head and neck squamous cell cancers, especially in squamous cell carcinomas of the tonsils. However, the true HPV prevalence in normal and neoplasic oropharyngeal mucosa remains uncertain. To determine the prevalence of HPV DNA in normal oropharyngeal mucosa of cancer-free individuals, a study was carried out on 50 Brazilian subjects. PCR was performed to identify HPV DNA in samples from four sites in the oropharynx (tonsils, soft palate, base of the tongue, and back wall of the pharynx). For amplification of the HPV DNA, MY09/11 consensus primerswere used, and specific genotypes were identified by dot-blot hybridization or cloning and sequencing. HPV DNA was present in 14.0% of the individuals, and the identified genotypes were 16, 18, 52, and 61. All these types are considered high-risk (HR) HPV. The tonsils and the soft palate were the sites with the highest HPV prevalence. This study shows the prevalence of HR HPV in the oropharynx of normal individuals. However, the prevalence of HPV is still unclear, and if HPV infection in a healthy it is not known individual predisposes to HPV-associated disease such as oropharyngeal cancer. Thus, it is important to assess the prevalence of HPV in cancer-free individuals, in order to compare it with the HPV prevalence in oropharyngeal carcinomas and to attempt to determine the true role of HPV in the development of head and neck squamous cell cancers. (c) 2006 Wiley-Liss, Inc.

Oral Exfoliative Cytology for the Diagnosis of Paracoccidioidomycosis in a Patient with Human Immunodeficiency Virus A Case Report

BackgroundParacoccidioidomycosis is not the most common fungal disease in patients infected with human immunodeficiency virus (HIV), except for endemic regions in Latin America countriesCaseA 33-year-old man with HIV presented with mulberry-like lesions on the palate The diagnosis was made by exfoliative cytology and Papanicolaou staining Microscopic analysis revealed fungal structures with birefringent walls and exosporulation conferring an airplane radial motor appearance, or even bowel-like or goblet-like forms compatible with Paracoccidioides brasiliensisConclusionThis process spares the immunosuppressed patient from under going invasive biopsy procedures (Acta Cytol 2010,54 1127-1129)

Mucus extravasation and retention phenomena: a 24-year study

Background: Mucoceles are benign lesions related to the minor salivary glands and their respective ducts frequently affecting oral structures which are generally asymptomatic. Mucoceles are generally characterized by swollen nodular lesions preferentially located on the lower lip and differ from the so-called ranulas, which are lesions located on the floor of the mouth and related to the sublingual or submandibular glands.Methods: The objective of the present study was to analyze data such as age, gender, race and site of the lesion of 173 mucocele cases diagnosed at the Discipline of Stomatology, Sao Jose dos Campos Dental School, UNESP, over a period of 24 years (April 1980 to February 2003).Results: of the 173 cases analyzed, 104 (60.12%) were females and 69 (39.88%) were males. Age ranged from 4 to 70 years (mean +/- SD: 17 +/- 9.53) and most patients were in the second decade of life (n = 86, 49.42%); white (n = 124, 71.68%). The lower lip was the site most frequently affected by the lesions (n = 135, 78.03%), whereas the lowest prevalence was observed for the soft palate, buccal mucosa, and lingual frenum.Conclusion: In this study, mucoceles predominated in white female subjects in the second decade of life, with the lower lip being the most frequently affected site.

Ocorrência de fissuras labiopalatais na cidade de São José dos Campos-SP

OBJETIVO: O objetivo do estudo foi descrever os casos de fissuras labiopalatais registrados na AAFLAP (Associação de Apoio aos Fissurados Labiopalatais), ocorridos na cidade de São José dos Campos - SP, em relação ao sexo, classificação socioeconômica, tipo de fissura e concomitância com síndromes. MÉTODOS: Os dados foram levantados das fichas preenchidas pela AAFLAP, entidade que recebe, orienta e encaminha para a realização dos procedimentos terapêuticos necessários, totalizando 200 crianças acometidas no período de 1992 a 2002. RESULTADOS: da análise dos dados pode-se observar que não houve diferença significativa na ocorrência de fissuras labiopalatais com relação ao sexo, sendo 48% do feminino e 52% do masculino, e que 73,70% dos casos acometeram crianças oriundas de classe socioeconômica desfavorecida. A fissura do tipo pós-forame incisivo prevaleceu em 41,33% dos casos, seguida da transforame incisivo com 33,16%, da pré-forame incisivo com 24,49% e das raras com 1,02%. Dos casos de fissura pós-forame incisivo, a incompleta totalizou 79%; dos casos de fissura pré-forame incisivo, o lado esquerdo totalizou 56% dos casos. de todos os casos levantados de fissuras labiopalatais, 9,18% estavam associados a alguma síndrome, sendo a Síndrome de Pierre Robin a mais prevalente e, em 94% das vezes, associada ao tipo de fissura pós-forame incisivo incompleta. CONCLUSÃO: Não houve diferença na ocorrência com relação ao sexo da criança; a classe socioeconômica desfavorecida foi a mais acometida; a fissura mais prevalente foi a pós-forame incompleta, e um décimo do total estudado, aproximadamente, apresentava associação com alguma síndrome.

A new Sphagesaurus (Mesoeucrocodylia: Notosuchia) from the Upper Cretaceous of Monte Alto City (Bauru Group, Brazil), and a revision of the Sphagesauridae

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Escuta de crianças com fissura labiopalatina na escola

INTRODUÇÃO: Grande similaridade entre o comportamento de pacientes com fissura labiopalatina e aqueles com transtorno de processamento auditivo são relatadas por pais e professores. OBJETIVO: Verificar a escuta de crianças com fissura labiopalatina em seis condições de escuta. MÉTODO: Professores de 224 escolares (7 a 11 anos) com fissura completaram um questionário, visando julgar a escuta do escolar no ruído, condição ideal, com múltiplos estímulos, no silêncio, quando solicitado recordar a informação ouvida e durante longo período de escuta, comparando-o ao de outro sem fissura de mesma idade e condição de escuta. Estudo Prospectivo. RESULTADOS: A média do julgamento (-0,08, desvio padrão de 0,27) dos alunos com fissura, realizado pelo professor, foi aproximadamente ao de mesma dificuldade (zero), quando comparado com o escolar sem fissura. Não foi encontrada significância estatística para qualquer uma das condições, nem para o valor total do questionário considerando os gêneros e as séries escolares. CONCLUSÃO: As características de escuta dos escolares com fissura labiopalatina foram similares ao de outro sem esta malformação craniofacial de mesma idade e condição de escuta semelhante. No ruído, quando a memória e a atenção auditiva são requeridas foram as condições mais difíceis.