Evidenza del coinvolgimento di geni nell'insorgenza delle schisi labio-palatine

The CL/P are the most common and easily recognizable craniofacial malformations with a complex etiology that requires the involvement of genetic and environmental components. The analysis of the genetic component shows more than 14 loci and genes involved in the onset of the disease. I’ve selected and investigated some of the possible candidate genes for CL/P. MYH14 gene, that maps on chromosome 19, on the OFC3 locus, and shows a strong homology with MYH9 gene. I’ve also investigated TP63 and MID1 genes, that are responsible respectively for EEC syndrome and Opitz syndrome, both of them presenting cleft. I’ve also decided to investigate JAG2 because TP63 product regulates the this gene, and both of them are component of the Notch signalling pathway. I’ve, also, studied the MKX and LMO4 genes. MKX is an important development regulator that is highly expressed in palatal mesenchyme, and map in the region responsible for Twirler mutation that cause cleft in mouse. LMO4 is necessary for neural tube development and cooperating with Grhl3, promotes cellular migration during morphogenetic events like “in utero” cleft healing. Low folate levels and high levels of homocysteine increase the risk of cleft, genes involved in their metabolism may be of interest in cleft occurrence. I’ve decided to investigate BHMT and CBS genes coding for enzymes involved in homocysteine metabolism. I’ve also investigated BHMT2 gene that maps close to BHMT and presents with him a 73% of homology. I’ve performed a linkage analysis using SNPs mapping in the genes and their boundaries, for each gene, for MKX and LMO4 I’ve also performed a sequencing analysis. My results for MID1 and CBS genes support the hypothesis of a possible role of these genes in cleft. I’ve found borderline association values for JAG2, MKX and LMO4 genes.

De la paralyssie labio-glosso-laryngée /

Precede al tít.: Clinique Médicale de l'Hotel-Dieu.

Multicusped crocodyliform teeth from the Upper Cretaceous (Sao Jose do Rio Preto Formation, Bauru Group) of Sao Paulo, Brazil

The six peculiar multicusped teeth described here were collected from sediments of the Upper Cretaceous of Sao Jose do Rio Preto Formation, near Ibira (northeastern Sao Paulo, Brazil). Their bulbous crowns are slightly labio-lingual compressed, and bear a main plus two accessory cusps, which conceal a well developed cingulum. Wear facets are seen on the main and distal accessory cusps. Comparison to the known Crocodyliformes with multicusped teeth show that the new material is not referable to ""protosuchians"" or eusuchians, nor related to two unnamed forms from Morocco and ""notosuchians"" such as Uruguaysuchus, Chiamaerasuchus, and Simosuchus. On the other hand, possible affinities with Candidodon and Malawisuchus were maintained based on shared traits. This includes teeth with the main cusp and some accessory cusps arranged in more than one axis, a previously defined unambiguous apomorphy of the putative clade composed of Candidodon plus Malawisuchus. The term Candidodontidae can be applied to this group, and defined as all taxa closer to Candidodon itapecuruensis than to Notosuchus terrestris, Uruguaysuchus aznarezi, Comahuesuchus brachybuccalis, Sphagesaurus huenei, Baurusuchus pachecoi, and Crocodylus niloticus. (C) 2009 Elsevier Ltd. All rights reserved.

An evaluation of the changes in malocclusion index scores over a 25-year period

Background: The measured values of specific traits of occlusion may be subject to significant change due to growth and maturation of the dentofacial structures. Some traits may show improvement while others may show deterioration. Rarely is there an opportunity to examine a sample of occlusions 25 years after the acquisition of the original set of records. This study examines the changes in traits of occlusion in a sample of 46 subjects who were originally examined between 1971-1973 and for whom records were again obtained in 1998. Methods: The 46 patients were a sub-group of a previously selected randomised school-based sample and study models obtained in 1971-1973 were still available. New models for each patient were obtained in 1998. Of the 46 subjects, only eight had received orthodontic treatment. Results: Assessments of the changes in specific traits were made using the methods proposed in the Harry L Draker, California Modification (HLD Cal Mod) index. This simple index was chosen because the main component traits were well defined and, when analysed separately, reflected changes with time. The total index score gave a broad indication of the global changes in the individual's occlusion. The five basic traits of the HLD index include overjet, overbite, openbite, mandibular protrusion and labio-lingual spread. Three additional traits (ectopic eruption, anterior crowding and posterior crossbite) are used in the HLD Cal Mod index. These traits provided a useful reflection of occlusal changes with time. Measurements were made with reference to specifications and the details outlined in the HLD Cal Mod protocol. The results revealed an increase in total index scores over time with a significant increase in lower labio-lingual spread associated with an increased score in anterior crowding. Overjet and overbite, however, displayed a significant decrease with time. Conclusions: These findings are in keeping with previous studies and highlight the importance of time as a significant issue in the assessment of occlusion.

Efecto teratogénico y toxico de ácidos grasos de cadena corta insaturados, en Rhodnius prolixus

Se estudia el papel teratogénico de dos ácidos grasos insaturados de cadena corta, ácido octinoico y ácido undecilénico, sobre insectos de metamorfosis hemimetábola, Rhodnius prolixus (Hemiptera). La penetración de los ácidos, se realiza a través de la cutícula del abdomen y de los tarsos, se presenta como una acción independiente del grado de distensión de la misma, ya que sus efectos se registran tanto en los insectos repletos, como en los hambrientos; tanto en los tratados tópicamente como en aquellos donde la droga se aplicó al papel de soporte. Los ácidos estudiados aparentemente no afectan la formación de la cutícula, ni la melanización, como tampoco afecta el proceso de la muda. Los daños inducidos por estos ácidos se presentam al azar tanto en los apéndices locomotores como en los cefálicos, observándose un desplazamiento a la proboscide a medida que se incrementa la dosis. De las malformaciones en la proboscide, es el labio el mas dramáticamente dañado, aunque también se presentan daños en los otros apéndices bucales, aisladamente o junto con el daño del labio. El daño en los apéndices locomotores está frecuentemente desplazado al segundo y tercer par de patas, mientras que el par, fue el menos afectado. El ácido octinoico se comportó como teratogénico en las dosis que fueron letales para el insecto con el ácido undecilénico.

Helicobacter pylori detection in gastric biopsies, saliva and dental plaque of Brazilian dyspeptic patients

Helicobacter pylori is an important human pathogen that causes chronic gastritis and is associated with the development of peptic ulcer disease and gastric malignancies. The oral cavity has been implicated as a potential H. pylori reservoir and may therefore be involved in the reinfection of the stomach, which can sometimes occur following treatment of an H. pylori infection. The objectives of this paper were (i) to determine the presence of H. pylori in the oral cavity and (ii) to examine the relationship between oral H. pylori and subsequent gastritis. Gastric biopsies, saliva samples and dental plaques were obtained from 78 dyspeptic adults. DNA was extracted and evaluated for the presence of H. pylori using polymerase chain reaction and Southern blotting methods. Persons with gastritis were frequently positive for H. pylori in their stomachs (p < 0.0001) and there was a statistically significant correlation between the presence of H. pylori in gastric biopsies and the oral cavity (p < 0.0001). Our results suggest a relationship between gastric infection and the presence of this bacterium in the oral cavity. Despite this, H. pylori were present in the oral cavity with variable distribution between saliva and dental plaques, suggesting the existence of a reservoir for the species and a potential association with gastric reinfection.

Influence of the primary cleft palate closure on the future need for orthognathic surgery in unilateral cleft lip and palate patients

RESUME : Introduction : L'objectif de cette étude est de déterminer l'influence de la dissection du palais lors de la chirurgie primaire et le type de chirurgie orthognathique requise chez les patients porteurs d'une séquelle de fente labio-maxillo-palatine unilatérale complète Méthode : Cette revue porte sur 58 enfants nés avec une fente labio-maxillo-palatine complète unilatérale et traités entre 1994 et 2008 à Page approprié pour une chirurgie orthognathique. C'est une étude rétrospective longitudinale mixte. Les patients avec des syndromes ou anomalies associées ont été exclus. Tous les patients ont été traités parle même orthodontiste et par la même équipe chirurgicale. Les enfants sont divisés en deux groupes; le premier comprend les patients avec une chirurgie primaire du palais conventionnelle, avec un décollement extensif de la fibro-muqueuse palatine. Le deuxième groupe comprend les patients opérés selon le protocole de Malek. Le palais mou est fermé a |'âge de trois mois, le palais dur à |'âge de six mois, avec un décollement minimal de la tibro-muqueuse palatine. Les radiographies du crâne de profil ainsi que les données chirurgicales ont été comparées. Résultats: La nécessité d'une chirurgie orthognathique est plus élevée dans le premier groupe par rapport au deuxième (60% versus 47,8%). Concernant le type de chirurgie orthognathique réalisé, des ostéotomies Lefort I en deux ou trois pièces ou des ostéotomies bi-maxillaires ont aussi été plus fréquentes dans le premier groupe Conclusion : La chirurgie primaire du palais selon le protocole de Malek améliore le pronostic des patients avec une fente labio-maxillo-palatine. Avec un décollement minimal de la fibro-muqueuse palatine, le nombre d'interventions de chirurgie orthognathique a été diminué. Lorsque ces opérations étaient néanmoins indiquées, elles étaient simplifiées.

Evaluación de la sonrisa

La estética y la belleza facial son valores cuya importancia se ha extendido a todo tipo de campos culturales y científicos, entre 'ellos, la odontología. El objetivo de este trabajo es determinar los factores que se han relacionado con la estética de la sonrisa y mostrar cual de sus características se relaciona con la estética. Se han revisado los artículos publicados en los últimos 10 años en lengua inglesa, francesa y española, registrados en Medline. Los autores coinciden en afirmar que la estética está relacionada con los siguientes factores: - Las proporciones divinas en las medidas de los dientes. - La línea de sonrisa debe ser una curva paralela al labio inferior. - El labio superior debe llegar al margen gingival de los incisivos centrales superiores y subir hacia las comisuras, es la línea labial. - La línea gingival debe ser paralela a la de la sonrisa, el espacio negro ha de ser visible y han de coincidir las líneas medias facial y dental superior.

Síndrome de boca ardiente: claves diagnósticas y terapéuticas

El síndrome de boca ardiente (SBA) se conoce también como boca escaldada, ardor bucal, glosodinia, glosopirosis, estomatodinia, estomatopirosis o disestesia oral. Se caracteriza por dolor o sensación de ardor, escozor o picazón, a veces aspereza, sobre todo en la lengua, paladar duro y labio inferior, en ausencia de datos clínicos o de laboratorio que justifiquen estos síntomas. Puede acompañarse de disgeusia (trastornos del gusto) y de xerostomía (boca seca), constituyendo la tríada clásica. Su etiología, poco precisa, es multifactorial. La evolución del cuadro tiende a ser crónica, alternando períodos de exacerbación y mejoría durante meses o años. Es más frecuente en mujeres perimenopáusicas o posmenopáusicas. Los episodios de SBA aparecen de forma espontánea y presentan un abanico variable en la gravedad de los síntomas. Mientras algunos pacientes refieren malestar leve o moderado, otros manifiestan dolor insoportable. Los síntomas suelen ser menos intensos...

Síndrome de boca ardiente: claves diagnósticas y terapéuticas

El síndrome de boca ardiente (SBA) se conoce también como boca escaldada, ardor bucal, glosodinia, glosopirosis, estomatodinia, estomatopirosis o disestesia oral. Se caracteriza por dolor o sensación de ardor, escozor o picazón, a veces aspereza, sobre todo en la lengua, paladar duro y labio inferior, en ausencia de datos clínicos o de laboratorio que justifiquen estos síntomas. Puede acompañarse de disgeusia (trastornos del gusto) y de xerostomía (boca seca), constituyendo la tríada clásica. Su etiología, poco precisa, es multifactorial. La evolución del cuadro tiende a ser crónica, alternando períodos de exacerbación y mejoría durante meses o años. Es más frecuente en mujeres perimenopáusicas o posmenopáusicas. Los episodios de SBA aparecen de forma espontánea y presentan un abanico variable en la gravedad de los síntomas. Mientras algunos pacientes refieren malestar leve o moderado, otros manifiestan dolor insoportable. Los síntomas suelen ser menos intensos...

Frequency of Werner helicase 1367 polymorphism and age-related morbidity in an elderly Brazilian population

Werner syndrome (WS) is a premature aging disease caused by a mutation in the WRN gene. The gene was identified in 1996 and its product acts as a DNA helicase and exonuclease. Some specific WRN polymorphic variants were associated with increased risk for cardiovascular diseases. The identification of genetic polymorphisms as risk factors for complex diseases affecting older people can improve their prevention, diagnosis and prognosis. We investigated WRN codon 1367 polymorphism in 383 residents in a district of the city of São Paulo, who were enrolled in an Elderly Brazilian Longitudinal Study. Their mean age was 79.70 ± 5.32 years, ranging from 67 to 97. This population was composed of 262 females (68.4%) and 121 males (31.6%) of European (89.2%), Japanese (3.3%), Middle Eastern (1.81%), and mixed and/or other origins (5.7%). There are no studies concerning this polymorphism in Brazilian population. These subjects were evaluated clinically every two years. The major health problems and morbidities affecting this cohort were cardiovascular diseases (21.7%), hypertension (83.7%), diabetes (63.3%), obesity (41.23%), dementia (8.0%), depression (20.0%), and neoplasia (10.8%). Their prevalence is similar to some urban elderly Brazilian samples. DNA was isolated from blood cells, amplified by PCR and digested with PmaCI. Allele frequencies were 0.788 for the cysteine and 0.211 for the arginine. Genotype distributions were within that expected for the Hardy-Weinberg equilibrium. Female gender was associated with hypertension and obesity. Logistic regression analysis did not detect significant association between the polymorphism and morbidity. These findings confirm those from Europeans and differ from Japanese population.

TP53 codon 72 polymorphism as a risk factor for cardiovascular disease in a Brazilian population

TP53, a tumor suppressor gene, has a critical role in cell cycle, apoptosis and cell senescence and participates in many crucial physiological and pathological processes. Identification of TP53 polymorphism in older people and age-related diseases may provide an understanding of its physiology and pathophysiological role as well as risk factors for complex diseases. TP53 codon 72 (TP53:72) polymorphism was investigated in 383 individuals aged 66 to 97 years in a cohort from a Brazilian Elderly Longitudinal Study. We investigated allele frequency, genotype distribution and allele association with morbidities such as cardiovascular disease, type II diabetes, obesity, neoplasia, low cognitive level (dementia), and depression. We also determined the association of this polymorphism with serum lipid fractions and urea, creatinine, albumin, fasting glucose, and glycated hemoglobin levels. DNA was isolated from blood cells, amplified by PCR using sense 5'-TTGCCGTCCCAAGCAATGGATGA-3' and antisense 5'-TCTGGGAAGGGACAGAAGATGAC-3' primers and digested with the BstUI enzyme. This polymorphism is within exon 4 at nucleotide residue 347. Descriptive statistics, logistic regression analysis and Student t-test using the multiple comparison test were used. Allele frequencies, R (Arg) = 0.69 and P (Pro) = 0.31, were similar to other populations. Genotype distributions were within Hardy-Weinberg equilibrium. This polymorphism did not show significant association with any age-related disease or serum variables. However, R allele carriers showed lower HDL levels and a higher frequency of cardiovascular disease than P allele subjects. These findings may help to elucidate the physiopathological role of TP53:72 polymorphism in Brazilian elderly people.

Cephalometric analysis of craniofacial growth of a cohort of cleft lip and palate patients

Mémoire numérisé par la Division de la gestion de documents et des archives de l'Université de Montréal

La palabra complementada : manual de aprendizaje de la PC.

El aprendizaje y la aplicación de la palabra complementada requiere de un manual como el que se presenta en el que se hace una exposición práctica dirigida a familias, asociaciones o profesores. Este material está formado por un vídeo donde se ve con precisión la forma de complementar; un audio que sirvve para verificar el aprendizaje realizado y un manual donde se explica los aspectos teóricos de la Palabra Complementada. En el manual se incluye la historia de la Palabra Complementada y una definición de la misma como sistema de apoyo a la lectura labio facial que elimina las confusiones orofaciales y hace totalmente inteligible el discurso hablado.