Expression of the Interleukin-10 Signaling Pathway Genes in Individuals With Down Syndrome and Periodontitis

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

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.

A case of Zimmermann-Laband syndrome with supernumerary teeth

Background: Zimmermann-Laband syndrome is a rare autosomal dominant disorder that is characterized by gingival fibromatosis, ear, nose, bone, and nail defects, and hepatosplenomegaly.Methods: This case report describes the clinical presentation and periodontal findings in a 13-year-old female patient with previously undiagnosed Zimmermann-Laband syndrome.Results: Clinical and radiographic findings and genetic counseling confirmed the diagnosis of Zimmermann-Laband syndrome. The most striking oral findings were the presence of gingival enlargement involving both the maxillary and mandibular arches, anterior open bite, non-erupted teeth, and two supernumerary teeth. Periodontal treatment consisted of gingivectomy in four quadrants. Histopathologic evaluation of excised tissue supported the diagnosis of gingival fibromatosis. The patient was referred for appropriate orthodontic treatment and genetic counseling, and has been closely followed for the earliest signs of hepatosplenomegaly.Conclusions: Dental practitioners should be alert for developmental abnormalities that may occur in patients with gingival fibromatosis as this may indicate the presence of a rare disorder like Zimmermann-Laband syndrome. A comprehensive medical history and physical systemic evaluation are essential for correct diagnosis and treatment of these cases.

Treatment of gingival fibromatosis associated with Zimmermann-Laband syndrome

Background: Gingival fibromatosis is a rare condition characterized by a generalized enlargement of the buccal and lingual aspects of the attached and marginal gingiva.Methods: This case report describes the periodontal management of a 13-year-old female patient with gingival fibromatosis associated with Zimmermann-Laband syndrome. The patient presented with gingival enlargement involving the maxillary and the mandibular arches, anterior open bite, and non-erupted teeth. Periodontal treatment included gingivectomy in all four quadrants.Results: Histopathologic evaluation of the excised tissue supported the diagnosis of gingival flbromatosis. A significant improvement in esthetic appearance and eruption of the non-erupted teeth were obtained. The patient was referred for appropriate orthodontic treatment and has been closely followed for the earliest signs of recurrence of gingival enlargement.Conclusions: the successful therapy for gingival fibromatosis depends on correctly identifying the etiological factors and improving the impaired function and esthetic appearance through surgical intervention and adjunctive orthodontics. Maintaining treatment results depends on preservation of periodontal health.

Gingival primary extranodal non-Hodgkin's lymphoma as the first manifestation of acquired immunodeficiency syndrome

Background: Non-Hodgkin's lymphomas (NHLs) are a heterogeneous group of lymphoproliferative malignancies that may be associated with acquired immunodeficiency syndrome (AIDS). NHL can disseminate to extranodal sites; however, its dissemination to the jaws and mouth is not common. This report presents and discusses two unusual cases of gingival primary extranodal non-Hodgkin's lymphoma (PE-NHL) as the first manifestation of AIDS.Methods: Two mates presented with asymptomatic gingival swelling. They were examined clinically. Biopsies of the gingival tissue were evaluated using routine histologic techniques and immunohistochemistry. The patients were tested for human immunodeficiency virus (HIV) infection.Results: The clinicopathological evaluation and the serological HIV examination of the patients led us to the final diagnosis of gingival PE-NHL as the first manifestation of AIDS. Both patients were referred to an oncologist and to an infectious disease specialist and were given antineoplastic chemotherapy and highly active antiretroviral therapy. Only one patient presented a favorable clinical evolution.Conclusion: The present case reports have important clinical implications; the two unusual presentations of gingival PE-NHL contribute to information about the differential diagnosis of rapidly progressing gingival swelling.

Comparison Between the Polymerase Chain Reaction-Based Screening and the Southern Blot Methods for Identification of Fragile X Syndrome

The fragile X syndrome (FXS), the most common cause of hereditary mental retardation, is caused by expansions of CGG repeats in the FMR1 gene. The gold-standard method to diagnose FXS is the Southern blot (SB). Because SB is laborious and costly, some adaptations in the polymerase chain reaction (PCR) method have been utilized for FXS screening. A previous PCR-based screening method for FXS identification utilizing small amounts of DNA was reported as simple and efficient. The aim of this study was to reproduce the mentioned PCR-based screening method for identification of expanded alleles of the FMR1 gene in Brazilian individuals and to investigate the efficiency of this method in comparison with SB. Utilizing the enzyme Expand Long Template PCR System, 78 individuals were investigated by that PCR-based screening method for FXS identification. Conclusive results were obtained for 75 samples. Considering all the allelic forms of FXS (normal [NL], premutation [PM], and full-mutation [FM]), the comparison of the PCR-based screening method with SB demonstrated 100% of accuracy, sensitivity, and specificity. However, when the PM and the FM were analyzed separately from each other, but together with the NL allele, the accuracy, sensitivity, and specificity decreased (to 42.9%-97.4%). We concluded that the PCR-based screening method was reproducible and capable of identifying all different FXS alleles, but because the differentiation between the PM and the FM alleles was not accurate, SB is still the gold-standard method for the molecular diagnosis of FXS.

Prevalence of metabolic syndrome in elderly Japanese-Brazilians

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Prevalence of Metabolic Syndrome in Japanese-Brazilians According to Specific Definitions for Ethnicity

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome

The Richieri-Costa-Pereira syndrome is a rare autosomal recessive disorder characterized by short stature, Robin sequence, cleft mandible, pre/postaxial anomalies and clubfoot. of 15 families reported with this disorder 14 are from Brazil suggesting a founder effect. We studied 15 families using identity-by-descent as a hypothesis to attempt gene localization We have examined through linkage analysis 497 polymorphicmarkers and also performed direct sequencing of exons for 10 candidate genes selected on the basis of their expression in the developing mandible and limb. No evidence for allele sharing at any locus tested or mutations in candidate genes was found. Additional higher resolution mapping, new families and other candidate genes might improve future chances of gene identification. (C) 2003 Wiley-Liss, Inc.

MOMO syndrome associated with autism: a case report

This is a case report of macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) associated with autism. Studies on genetic or environmental syndromes associated with autism can provide genetic markers or uncover relevant events, and are very important for the definition of autism subgroups in future molecular research.

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.

Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)