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Estudo da cronologia e seqüência de erupção e das agenesias dos dentes permanentes em indivíduos brasileiros, leucodermas, portadores de fissura transforme incisivo unilateral / Eruption chronology, eruption sequence and hypodontia of permanent teeth in white brazilian children with total unilateral cleft lip and palateCarrara, Cleide Felicio de Carvalho 24 November 2000 (has links)
Para se avaliar a cronologia, a seqüência de erupção e a prevalência de agenesias dentárias em indivíduos portadores de fissura transforame incisivo unilateral. examinou-se 477 pacientes regularmente matriculados no HRAC - USP, brasileiros, leucodermas, de ambos os sexos, na faixa etária de 5 a 14 anos. Foram realizados exames clínico e radiográfico. A cronologia e a seqüência de erupção foram estabelecidas para cada sexo. Os indivíduos do sexo feminino mostraram, para todos os dentes superiores e inferiores, idade média de erupção menor em relação aos indivíduos do sexo masculino. O incisivo lateral e o canino, ambos superiores e adjacentes à fissura apresentaram idade média de erupção significantemente maior em relação aos seus homólogos do lado não fissurado. A prevalência de agenesias dentárias foi de 63,86% para o sexo feminino e de 50,5% para o sexo masculino, sendo estatisticamente significante. Os indivíduos portadores de fissura apresentaram idade média de erupção maior em relação aos indivíduos não fissurados para a maioria dos dentes permanentes, em todos os hemiarcos e em ambos os sexos. / Clinical and radiographic examination of 477 patients with unilateral cleft lip and palate, age 5 to 14 years, were performed to determine the chronology, sequence of eruption, and frequency of missing permanent teeth. Female subjects showed a lower mean age of tooth eruption than males. Superior lateral incisors and canines on the affected side showed mean age of eruption significantly higher than their similar on the non-affected side. The frequency of hypodontia was significant higher in girls (63,86%) than in boys (50,5%). The mean tooth eruption age for cleft lip and palate patients compared with the general population was delayed for most permanent teeth, on all quadrants and both sex.
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Fissura pré-forame incisivo uni/bilateral e fissura pós-forame incisivo associadas: estudo genético-clínico / Cleft lip uni/bilateral and cleft palate associated: a clinical and genetic studyAlvarez, Camila Wenceslau 10 December 2010 (has links)
Objetivo: Contribuir para a ampliação do conhecimento das fissuras orais, descrevendo, sob o aspecto genético-clínico, uma amostra de indivíduos com fissura pré-forame incisivo uni/bilateral incompleta e fissura pós-forame incisivo associadas. Casuística e metodologia: Foram selecionados 356 indivíduos com fissura pré-forame incisivo uni/bilateral incompleta, sem acometimento do arco alveolar, associada à fissura pós-forame incisivo, cadastrados e em tratamento no Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo, Bauru, SP. Dados de razão sexual, idade parental na época da concepção, consanguinidade parental, recorrência familial, lateralidade da fissura e presença de anomalias associadas à fissura foram investigados. Para análise dos resultados foram destacados dois grupos (Grupos I e Grupo II) da amostra total. No Grupo I foram incluídos os indivíduos que apresentaram fissura pré-forame incisivo cicatricial, independentemente do tipo de acometimento pós-forame. Indivíduos do Grupo I, que, além de apresentarem fissura pré-forame incisivo cicatricial apresentaram também algum tipo de microforma de fissura pós-forame incisivo, foram destacados para formarem também o Grupo II. Testes estatísticos de comparação foram realizados entre os Grupos e o restante da amostra e entre a amostra total e dados da literatura pertinente. Resultados e Discussão: Observou-se diferença estatisticamente significativa entre a amostra total e os dados da literatura em relação à lateralidade da fissura, razão sexual, consanguinidade, recorrência familial e presença de anomalias associadas. Observou-se, ainda, diferença estatisticamente significativa entre o Grupo II e o restante da amostra total quanto à idade paterna e, entre os Grupos I e II e a amostra total, em relação à ocorrência de múltiplas anomalias associadas à fissura. A amostra estudada apresentou, em geral, as mesmas características genético-clínicas do grupo das fissuras pré e transforame incisivo (FL/P). As diferenças encontradas não permitiram afirmar a distinção da fissura pré-forame associada à fissura pós-forame incisivo, sem acometimento do arco alveolar (FL+FP) das FL/P. Da mesma forma não foi possível afirmar, pelos resultados obtidos, que os Grupos I e II eram distintos da amostra total. Conclusão: Embora não se possa afirmar que FL+FP seja distinta das FL/P, suas características peculiares apontam para essa diferenciação. Os indivíduos com quadros de microformas de fissura constituem um grupo alvo de investigações sobre possíveis mecanismos genéticos que levam à gravidade variável dessas malformações. / Purpose: To contribute to the expansion of knowledge about oral clefts, describing the clinical and genetic aspect of a sample of individuals with cleft lip associated with cleft palate, without alveolar arch involvement, showing or not other abnormalities. Patients and methods: We selected 356 patients with incomplete cleft lip uni/bilateral associated with cleft palate, without alveolar arch involvement, registered and in treatment at the Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo, Bauru, SP. Data for sexual ratio, parental age at the time of conception, parental consanguinity, familial recurrence, laterality of cleft and presence of associated anomalies were investigated. Regarding the analysis of the results two groups were detached (Group I and Group II) from the total sample. In Group I it was included individuals who had healed cleft lip, regardless of the type of palate involvement. Individuals in Group I, which, besides having had healed cleft lip also had some type of microform cleft palate were also detached to form Group II. Statistical tests were performed for comparison between groups and remainder of the sample, and between the total sample and literature data. Results and Discussion: There was a statistically significant difference between the total sample and literature data regarding laterality of the cleft, sexual ratio, consanguinity, familial recurrence and presence of associated anomalies. There was also a statistically significant difference between Group II and the remainder of the sample regarding paternal age, and between Groups I and II and the total sample in relation to the occurrence of multiple anomalies associated with cleft. The sample has, in general, the same genetic and clinical characteristics of the group of cleft lip with or without cleft palate (CL/P). The differences did not allow distinction between cleft lip associated cleft palate without involvement of the alveolar arch (CL+CP) and CL/P. Likewise it is not possible to affirm, from the results obtained, that Groups I and II are distinct from the total sample. Conclusion: Although we can not say that CL+CP is distinct from the CL/P, its peculiar features indicate to this differentiation. Individuals with microforms of cleft constitute a target group for research on possible genetic mechanisms that lead to varying severity of these malformations.
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Desempenho motor oral na fissura labiopalatina / Oral motor performance in cleft lip and palateModolo, Daniela Jovel 11 October 2012 (has links)
Objetivo: Estudar a habilidade motora do lábio e da língua em indivíduos com fissura isolada de palato e em indivíduos com fissura de palato associada à fissura labial, comparativamente a indivíduos sem fissura labiopalatina. Método: Participaram do estudo 88 crianças de ambos os sexos, com idade entre 9 e 12 anos, distribuídas em três grupos: 28 crianças com fissura pós-forame incisivo operada, 30 com fissura transforame incisivo unilateral operada e 30 sem fissura labiopalatina ou má oclusão que constituiu o grupo controle. Avaliou-se a mobilidade dos lábios e da língua, a partir de imagens gravadas de 12 movimentos dos lábios e 17 da língua; a atividade eletromiográfica do lábio superior obtida com eletrodos bipolares de superfície durante a protrusão dos lábios, considerada atividade máxima, e na produção da silaba pa, calculando-se a porcentagem da máxima atividade labial utilizada na emissão da sílaba; além do teste da DDC a partir da repetição das sílabas pa, ta, ca e da sequência pa-ta-ca, analisando-se para as sílabas os parâmetros fornecidos pelo programa Motor Speech Profile Advanced (MSP) da KayPENTAXTM, e para a sequência pataca a contagem do número de emissões por segundo. Resultados: Quanto à mobilidade, verificou-se menor escore para os lábios no grupo controle comparado aos dois grupos fissura e menor escore para a língua no grupo controle que no grupo com fissura transforame. Em relação à atividade eletromiográfica, não houve diferença entre os grupos para a protrusão labial, mas a porcentagem da máxima atividade utilizada na emissão da sílaba foi maior no grupo pós-forame comparado aos grupos controle e transforame. Para a DDC, obteve-se maior número de emissões por segundo e menor tempo médio entre as emissões da sílaba ca no grupo controle comparado ao grupo transforame e maior número de emissões por segundo da sequencia pataca no grupo controle que no grupo pós-forame. Conclusão: Na amostra estudada, a mobilidade labial foi reduzida nos grupos com fissura e a mobilidade lingual foi reduzida no grupo transforame comparado ao grupo sem fissura; maior porcentagem da atividade máxima labial para produzir a silaba pa foi utilizada na fissura pós-forame; a velocidade de emissão da sílaba ca foi menor na fissura transforame, assim como na fissura pós-forame houve menos emissões da sequência pa-ta-ca que no grupo sem fissura. / Objective: To investigate the tongue and lips motor ability in subjects with isolated cleft palate as well as in subjects with cleft palate associated with cleft lip compared to subjects without cleft lip and palate. Methods: Eighty eight children with both genders, between the ages of 9 and 12 years old, took part in this investigation. Being distributed in three groups: 28 children with repaired isolated cleft palate, 30 with repaired unilateral cleft lip and palate and the control group which consisted of 30 children without cleft lip and palate or malocclusion. This investigation assessed the lips and tongue mobility through recorded images of 12 lips movements and 17 tongue movements; the electromyographic activity of the upper lip, which was obtained through bipolar surface electrodes during the protrusion of the lips, considered as the maximal activity, and during the production of the syllable \"pa\", by calculating the percentage of the lips maximal activity used in the syllable emission and the DDK test through the repetition of the syllables pa, ta, ca and the sequence pa-ta-ca, by analyzing the syllables through the parameters provided by the program Motor Speech Profile Advanced (MSP) of the KayPENTAXTM, and the sequence pataca by counting the number of emissions per second. Results: Regarding the mobility, it was verified a lower score to the lips in the control group than in the other two groups with cleft, and a lower score to the tongue in the control group than in the group with unilateral cleft lip and palate. Regarding the electromyographic activity, there was no difference between the groups as to the protusion of the lips, but the percentage of the maximal activity used in the syllable emissions was greater in the group with isolated cleft palate than in the groups control and unilateral cleft lip and palate. As to the DDK, it was verified a greater number of emissions per second and a lower mean time between the emissions of the syllable ca in the control group compared to the group with unilateral cleft lip and palate and a greater number of emissions per second of the sequence pataca in the control group than in the group with with isolated cleft palate. Conclusion: In the investigated sample, the mobility of the lips was decreased in the groups with cleft and the mobility of the toungue was decreased in the group with unilateral cleft lip and palate compared to the group without cleft; an increased percentage of the maximal activity to produce the syllable pa was used in the group with the isolated cleft palate; the rate of the emission of the syllable ca was lower in the unilateral cleft lip and palate, as in the group with isolated cleft there were lower emissions of the sequence pa-ta-ca than in the group without cleft.
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Speech Elicitation Material for Young Children with Cleft Lip And/Or Palate in MauritiusGopal, R., Louw, Brenda, Kritzinger, Alta 04 April 2011 (has links)
No description available.
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An Electronic Database to Improve Cleft Care in MauritiusGopal, R., Louw, Brenda 07 May 2012 (has links)
No description available.
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Use of zebrafish to test candidate genes and mutations associated with structural birth defects, primarily in cleft lip and palateSmith, Tiffany Lynn 01 May 2014 (has links)
Cleft lip and/or palate (CL/P) is a group of congenital birth defect caused by the failure of the lip and/or palate to properly fuse during facial development. This defect occurs in approximately 1:700 live births and is the most second most common developmental defect. Twin studies and evaluation of family history reveals that risk for CL/P is influenced by genetics. However, to date less than half of the heritable risk for CL/P has been ascribed to specific genes.
To identify new genes involved in CL/P, our colleagues, Dr. Manak and Dr. Murray, screened DNA from CL/P patients for rare copy number variants. A single copy deletion of Isthmin1 (ISM1) was identified in this screen. To test the hypothesis that this deletion contributed to the pathogenesis of CL/P we conducted functional tests of the zebrafish ortholog, isthmin1. The results indicated that Ism1 is necessary for development of the face in zebrafish, supporting the hypothesis.
Together with Dr. Bassuk, we applied a similar approach to another structural birth defect, spina bifida. Dr. Manak discovered a de novo single copy deletion encompassing Glypican 5 (GPC5) and part of Glypican 6 (GPC6) in a spina bifida patient. Our functional tests in zebrafish support the notion that mutations in GPC5 cause spina bifida in some patients.
To identify additional CL/P loci, we investigated two putative transcriptional targets of Interferon Regulatory Factor 6 (IRF6), a transcription factor encoded by a gene which is mutated in the majority of patients with Van der Woude orofacial clefting syndrome. The Cornell lab found evidence that Irf6 regulates expression of grhl3 and klf4 in zebrafish periderm. Partly in response to our findings, Jeff Murray's group sequenced the coding region GRHL3 gene in Van der Woude patients lacking IRF6 mutations and found 8 different coding mutations in GRHL3. We tested 5 of theses GRHL3 mutations in zebrafish-based functional studies, and found the 5 patient-derived GRHL3 variants had dominant negative effects. We conclude that GRHL3 is indeed a CL/P locus. Because all the patient derived variants were dominant negative (as opposed to null), and because such variants would be expected to block the function of the other copy of GRHL3 as well as other family members (GRHL1 and GRHl2), which are also cleft candidate genes.
Multiple KLF4 coding mutations were also detected in patients with CL/P. We tested one of them but did not detect evidence of disruption in protein function. We conclude that this mutation does not seem to affect the function of KLF4, even though it was predicted to be damaging. This enforces the idea that conclusions from in silico studies should be examined in vivo.
Finally, the protein structure of Irf6 has been examined to identify important residues within the C-terminus of the protein. Using constructs built by Dr. Mankad, we tested 5 different phosphor-mimetic amino acid substitutions. Of the variety of constructs, only Irf6 S447D in zebrafish Irf6 was able to cause ectopic expression of downstream Irf6 targets. This predicts that phosphorylation at S447 is sufficient to activate Irf6.
All of these studies have expanded our understanding of the genetics behind CL/P, either by discovering new loci in human patients and testing them in Danio rerio, or from finding downstream targets of Irf6 in zebrafish, sequencing human patients for mutations in those genes, and then testing the functional changes of those variants. From our work with zebrafish, we can determine additional components of the IRF6 regulatory network.
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The role of structural variation in cleft lip and palateLansdon, Lisa Ann 01 January 2018 (has links)
Clefts of the lip and/or palate (CL/P) are one of the most common birth defects in the world occurring about every 1 in 700 live births. Individuals with non-syndromic clefting (NSCL/P) account for about 70% of all cleft cases and exhibit a cleft only whereas syndromic occurrences (SCL/P) include additional cognitive or structural abnormalities. Linkage, genome-wide association, candidate gene, animal model, sequencing and copy number variant (CNV) analyses have been used to study CL/P and have established that it is a heterogeneous, complex disorder. However, the impact of identified sequence variants on protein structure and the contribution of structural genetic variation to CL/P remains poorly understood.
In our first analysis we reassessed the phenotype of a 30-year-old individual of SCL/P and noticed phenotypic overlap with Hartsfield syndrome, a rare syndrome resulting from sequence variants in Fibroblast growth factor 1 (FGFR1). We sequenced the coding region of FGFR1 and identified a novel, de novo variant. Due to the fact sequence variants in FGFR1 contribute to multiple syndromes encompassing a wide phenotypic spectrum, we performed an extensive literature search to record every published sequence variant of FGFR1 and mapped it to the protein structure by disease and phenotype. Although no statistically significant protein domain-phenotype correlations were identified, many regions neared significance. This work stresses the need for systematic, comprehensive phenotyping of patients and provides a method for assessing the impact of the location of sequence variants within the 3D structure of the protein.
Although rare and common CNVs have been identified in individuals with CL/P, prior to our work no large-scale studies of rare CNVs for the identification of novel clefting genes had been performed. For our second set of analyses, we conducted two such studies, first focusing on a smaller cohort of 140 individuals with NSCL/P from the Philippines to establish our informatic and functional validation pipeline. We used whole-genome tiling arrays to assess rare deletions overlapping genes not previously implicated in clefting, and identified one deletion overlapping Isthmin1 (ISM1) and a deletion just 3’ of the gene in a second affected individual. Functional validation of Ism1 in Xenopus laevis showed strong expression in structures necessary for craniofacial development, and morpholino and CRISPR/Cas9 knockdown of Ism1 resulted in a median cleft lip in some embryos, establishing ISM1 as a novel craniofacial patterning gene. We then expanded our study and assessed genomic CNVs in 1021 individuals with NSCL/P and 81 individuals with SCL/P, finding no differences in CNV number, load or burden between these groups. We also identified 8 putative clefting genes overlapped by deletions in two or more individuals but at a rare (< 1% frequency) in the cohort. Functional validation of these genes using CRISPR/Cas9 in zebrafish and Xenopus tropicalis is currently underway.
This work has identified a novel sequence variant leading to the diagnosis of Hartsfield syndrome in an individual with SCL/P, developed an innovative method for assessing the impact of sequence variation on protein structure, improved our understanding of the contribution of CNVs to SCL/P and NSCL/P and identified several putative novel clefting loci which may help explain a portion of the missing heritability of CL/P.
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Language and reading dysfunction in boys with isolated cleft lip and/or palate : a relationship to abnormal structural and functional connectivity in the brainDeVolder, Ian John 01 December 2015 (has links)
Orofacial clefts are among the most common congenital defects in the United States, affecting roughly 1 in 600 births annually. A majority of these cases are considered to be “isolated” clefts of the lip and/or palate (ICLP). However the term “isolated” is somewhat of a misnomer, as functional deficits frequently accompany ICLP. One of the most problematic yet understudied of these deficits involves the high prevalence of reading disabilities in this population. It has been estimated that as high as 46% of children with ICLP will be diagnosed with a reading disability, particularly dyslexia. Despite this high prevalence and the well-established neurological basis of dyslexia, relatively little attention has been paid to the role that brain development plays in the reading problems in ICLP. Previous studies from our lab have demonstrated significant changes in brain structure in children with ICLP (that have importantly correlated with functional measures). However we have yet to combine both a structural and functional neuroimaging study with an in-depth analysis of reading dysfunction in this population.
The current study examined boys with ICLP, age 8-12 (boys have a higher prevalence of ICLP and show more significant reading problems that girls with ICLP) compared to healthy control boys. Measures of cognitive functioning were obtained with an emphasis on reading and language skills. In addition MRI scans were obtained which included volumetric measures, diffusion-weighted measures (DWI; white matter), and connectivity measures (resting-state fMRI). Even after controlling for the effect of socioeconomic status, boys with ICLP showed significant decreases in reading and language skills (particularly reading fluency). Boys with ICLP did not show significant differences on phonlogical measures (the primary cause of dyslexia). In addition, phonological measures were not predictive of reading fluency, while object naming tasks were predictive of reading fluency in boys with ICLP.
For white matter integrity, measures of fractional anisotropy (FA) were found to be increased in the right occipital lobe for boys with ICLP indicating more organized white matter in this region. This increase in right occipital FA was also predictive of better reading outcomes, particularly reading fluency. For more specific white matter tracts, only the fornix and the tapetum (both associated with the temporal lobes) showed a significant difference with a decrease in FA for boys with ICLP. The decrease in FA in the tapetum was also predictive of better reading outcomes in ICLP. When looking at resting-state networks, boys with ICLP showed an increase in connectivity within posterior and subcortical regions when compared to healthy control boys, indicating stronger network connections within the posterior language regions of the brain.
Taken together, these results point to differences in both structural and functional connectivity in the brains boys with ICLP. Furthermore, this pattern is different than that found in children with developmental dyslexia as there appears to be no disruption of the posterior reading systems. Cognitive measures also indicate normal phonological awareness in this group, further distinguishing them from dyslexic children. Boys with ICLP instead may be over-relying on these posterior, more visually oriented reading systems as a compensatory mechanism to overcome problems with the development of the typical “lexical route” of reading.
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3D facial analysis: unaffected parents of individuals with cleft lip/palateDefay, David Kay 01 May 2011 (has links)
The purpose of this work is to study phenotypic craniofacial traits of unaffected parents of individuals with nonsyndromic cleft lip with or without palate (NSCL/P). In order to evaluate these craniofacial traits, three dimensional photographs were obtained and landmarked to compare the sample of unaffected parents with a control sample. The sample was comprised of 40 unaffected fathers, 25 control males, 84 unaffected mothers, and 34 control females. Twenty-four three-dimensional landmarks were exported for analysis for each subject. For the purposes of this study, nine euclidean distances were subjected to a discriminant function analysis to evaluate their ability to discriminate between an unaffected parent and a control. In both the male and female analysis, certain craniofacial measurements correctly and significantly discriminated between unaffected parents and controls. It appears that certain facial traits are subclinical markers for enhanced genetic susceptibility to nonsyndromic cleft lip with or without palate.
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Microesthetic dental analysis in parents of children with oral cleftsMeier, Chloe Mary Elizabeth 01 May 2014 (has links)
Background: Nonsyndromic cleft lip and palate (NSCL/P) is a complex trait caused by genetic and environmental factors that interact producing a wide spectrum of orofacial malformations, including dental anomalies. The underlying genetic etiology that accounts for phenotypic variation in affected families is poorly understood. Purpose: The purpose of this study is to utilize shape and microesthetic analysis to characterize the maxillary anterior dentition in unaffected parents of children with NSCL/P (cases) compared to control adults with no CL/P history to identify dental morphology features that are part of the NSCL/P phenotypic spectrum and can therefore be used in refining NSCL/P phenotypes and identifying genetic risk factors. Methods: Individuals were recruited from 5 sites including Iowa, Texas, Hungary, the Philippines, and Pittsburg, PA. From a total of 3202 individuals, 420 quailified after strict selective criteria. Digital photographs from 198 cases and 222 controls were analyzed using linear metrics and 2D-coordinate landmark-based geometric morphometrics (GM) to compare dental esthetics and deviations from golden proportions." Differences in central incisor and connector height proportions were evaluated using paired T-tests. Anterior tooth shapes were examined using GM techniques. Results: Three shape differences were found to be possible predictors of genetic risk. These included shorter maxillary anterior teeth overall, square shaped lateral incisors on the left side, as well as lateral incisors and canines with long axes angled inward toward the midline on the left side. Both the case and control groups were found to be significantly different than the proposed ideal values of tooth proportions. Conclusions: Significant differences in anterior dental morphology were found between cases and controls, with controls displaying a more ideal dental morphology than cases for most evaluated measures. The identification of these distinct dental features in carriers of NSCL/P genetic risk factors further characterizes the phenotypic spectrum of NSCL/P which can enhance the power of genetic studies.
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