La croissance maxillaire et mandibulaire et l’apnée du sommeil chez les enfants présentant une séquence de Pierre Robin

Introduction : La croissance maxillo-mandibulaire des enfants avec une séquence de Pierre Robin (SPR) est controversée dans la littérature. Certains auteurs croient que la croissance mandibulaire est accélérée après la naissance, mais peu se sont penchés sur la croissance du maxillaire supérieur. Cette étude rétrospective sur dossier vise à analyser la croissance maxillo-mandibulaire des enfants atteints de la SPR. Dans un deuxième temps, nous aurions aimé évaluer la sévérité et l’évolution de l’apnée du sommeil en lien avec la croissance des maxillaires, mais un manque de données a empêché l’atteinte de cet objectif. Matériel et méthode : Les dossiers médicaux et orthodontiques de 93 patients (82 volet apnée et 40 volet croissance) du CHU Ste-Justine avec une SPR isolée ont été révisés puis comparés au groupe contrôle composé d’enfants normaux de l’Université du Michigan. L’analyse statistique de modèle mixte pour mesures répétées de même que celle de Brunner-Langer furent effectuées. Résultats : L’évaluation orthodontique a montré un changement statistiquement significatif pour la relation molaire droite, la présence de chevauchement et de diastème au maxillaire et le surplomb vertical. L’analyse des données céphalométriques nous montre que le maxillaire supérieur, la branche montante et le corps de la mandibule sont tous réduits par rapport à la normale. Ce dernier montre une diminution significative avec l’âge (p = 0,03). L’angle gonial, le SNA, SNB, ANB, l’angle de convexité faciale et l’inclinaison de l’incisive supérieure par rapport à FH sont tous normaux. Par contre, on remarque une augmentation statistiquement significative de cette dernière avec l’âge (p = 0,04). L’angle Y est augmenté tandis que les hauteurs faciales supérieure (HFS) et inférieure (HFI) sont diminuées bien que cette dernière montre une tendance à s’approcher de la normale avec l’âge (p ≤ 0,001). Discussion : Les dimensions des maxillaires sont similaires à plusieurs études. En ce qui concerne la mandibule, la croissance est soit plus lente, soit diminuée. Cette observation est plus marquée lorsque l’on s’approche du pic de croissance puisque l’écart par rapport à la normale s’agrandit. On voit une tendance à la croissance hyperdivergente qui pourrait expliquer l’augmentation de la HFI avec l’âge. Le fait que SNA et SNB soient dans la normale pourrait s’expliquer par une diminution de la longueur de la base crânienne. Conclusion : Il n’y a pas de rattrapage de croissance maxillaire et mandibulaire. Les maxillaires restent micrognathes quoique proportionnels l’un envers l’autre et le profil est convexe tout au long de la croissance. La comparaison des données céphalométriques et des traitements orthodontiques avec ceux des patients présentant une fente palatine isolée devrait se faire sous peu. Nous n’avons pas été en mesure d’atteindre nos objectifs concernant l’apnée du sommeil. Une étude prospective serait à prévoir pour y arriver.

Internacionalización de las empresas colombianas caso: Pizza Gourmet 1969

A través de un análisis interno y estructural realizado a dos compañías pertenecientes al sector de alimentos, más específicamente al sector de las pizzas. Para reconocer sus principales características, cualidades y situación actual. Ambas con evidentes diferencias entre ellas, es decir, donde una es reconocida mundialmente y la otra aún no ha salido de su lugar de origen, asimismo donde una es estadounidense: Pizza Hut, y la otra Colombiana: Pizza Gourmet 1969. Y su respectivo análisis con respecto a su relación con las diversas teorías de la internacionalización de las empresas, se logró identificar la estrategia utilizada por Pizza Hut para lograr conquistar otros mercados y ser identificada como una de las mejores en el mundo. Y por otro lado, revelar y descubrir el mejor camino que podría seguir Pizza Gourmet 1969 para realizar su proceso de internacionalización. Por medio de lo dicho anteriormente, se evidencio que Pizza Gourmet 1969 podría llevar a cabo un comportamiento parecido al utilizado por P izza Hut para lograr salir de sus fronteras. Utilizando un mecanismo de franquicias y de la calidad e innovación de productos. Resaltando de esta forma los factores diferenciadores, y así obtener el aprovechamiento de los recursos, conocimientos y talentos de la compañía. Logrando conquistar el paladar del consumidor y satisfacer sus necesidades. De esta forma, la experiencia día a día será mayor y la participación de mercado a su vez se incrementara. El indiscutible éxito de Pizza Hut en el mundo, es el motivo por el cual se tomó como patrón y base para dicho análisis comparativo. Esta compañía es un ejemplo, y su historia y estrategias pueden ser utilizadas e imitadas por compañías que deseen ampliar sus mercados y realizar procesos de internacionalización.

Correlación genotipo-fenotipo y análisis molecular en pacientes con síndrome Down

El síndrome Down (SD) es la trisomía más común en humanos, presentándose en 1 de cada 745 nacidos vivos y es la causa más frecuente de retardo mental. El origen más observado de la trisomíaes una no disyunción meiótica (95%), la cual generalmente es de origen materno, mientras un 5% se debe a errores post-cigóticos mitóticos. Objetivo: identificar el origen parental delcromosoma 21 extra, el momento del error no disyuncional y establecer una correlación entre estos eventos y las manifestaciones fenotípicas de los pacientes afectados. Materiales y métodos: se estudiaron cincuenta familias con un hijo con SD mediante el uso de cinco short tandem repeats (STR) a lo largo de 21q, se construyeron los haplotipos de cada paciente y sus padres, determinandoel origen parental y el momento en que surgió el error no disyuncional. Resultados:en 80% de las familias el error fue en meiosis I y 20% en la meiosis II; 98% de los cromosomasadicionales fue de origen materno y 2% paterno. Se encontró correlación genotipo-fenotipo en ocho características estudiadas: cuello corto y ancho, tercera fontanela, labio inferior prominente, paladar estrecho y corto, raíz del hélix cruzando la concha, alopecia, pliegue único palmar yotras anomalías como nevus y xeroderma y eventos de recombinación en 24,5% de las familias analizadas. Conclusiones: la edad materna y la variación en el número de recombinaciones está asociada con no disyunciones meióticas I y II; se encontró correlación entre el momento del errorno disyuncional y algunas variables clínicas.

Franquicia GastroPub Torino

Es la construcción de un modelo de franquicia de restaurantes con la temática GastroPub que es una nueva tendencia originaria de europa. Es un restaurante que sirve comida colombiana gourmet, típica pero no común, en un ambiente de pub.

Consumo de sustancias y noxas prenatales en madres de pacientes con síndrome de Möbius y Möbius Like

Introducción: El síndrome de Möbius y Möbius Like es una entidad poco frecuente caracterizada principalmente por parálisis congénita del VI y VII par craneal. Su etiología es poco conocida aunque se ha asociado a inductores del aborto. El objetivo de este estudio es describir factores anómalos, tóxicos o nocivos que hayan estado presentes en el embarazo de las madres de estos pacientes. Metodología: se realizó una encuesta auto-diligenciable a 15 madres de pacientes con el diagnóstico, indagando sobre condiciones anómalas y/o exposicionales del embarazo, el padre y el ambiente. Resultados: Las madres se encontraban entre los 16 y 34 años al momento de quedar embarazadas, en su mayoría eran solteras, estudiantes y sin planes de embarazo. Once en total usaron algún medicamento y/o sustancias durante la gestación; seis de ellas Misoprostol (40%). Las otras sustancias utilizadas incluyeron: alternativas, cigarrillo, alcohol, ibuprofeno, anticonceptivos, otros. Como anomalías del periodo prenatal se reportaron sangrado activo y/o amenaza de aborto, infección, exposición a químicos ambientales y enfermedad materna activa. Las condiciones paternas descritas fueron alcoholismo y/o drogadicción, enfermedad y edad ≥ 40 años en bajo porcentaje. Conclusión: El síndrome de Möbius y Möbius Like es una patología poco frecuente de la cual aún se debe seguir investigando sobre su etiología, para plantear posibles medidas de prevención.

Recalled relationships with parents and perceptions of professional support in mothers of infants treated for cleft lip

This study examined whether individual differences in perception of the quality of professional support available at a time of stress may be associated with security of attachment. We developed a new measure of parents' perceptions of emotional and practical support provided by a wide range of professionals involved in the treatment of infants with cleft lip. it showed good internal reliability and stability over 4 months. Mothers of 102 infants with cleft lip, with or without cleft palate, completed the measure at 2 and 6 months, together with the Parental Bonding Instrument and the General Health Questionnaire. Mean scores reflecting how much they could trust or talk frankly, or share their worst fears, with professionals, and the extent to which they saw them as a source of useful information or practical help, were lower among mothers with recollections of low maternal care in childhood, or high control. This was the case at 2 and 6 months, and there were some indications of an increasing contribution of low maternal care from 2 to 6 months. The associations were not explained by current depression. Further research is needed to clarify the role of attachment processes in parents' responses to serious medical conditions in their children, and into the implications for the way professionals in paediatric services provide support.

Does repairing a cleft lip neonatally have any effect on the longer-term attractiveness of the repair?

Objective: To determine whether attractiveness and success of surgical outcome differ according to the timing of cleft lip repair. Design: Three experiments were conducted: (1) surgeons rated postoperative medical photographs of infants having either neonatal or 3-month lip repair; (2) lay panelists rated the same photographs; (3) lay panelists rated dynamic video displays of the infants made at 12 months. Normal comparison infants were also rated. The order of stimuli was randomized, and panelists were blind to timing of lip repair and the purposes of the study. Setting: Four U.K. regional centers for cleft lip and palate. Participants: Infants with isolated clefts of the lip, with and without palate. Intervention: Early lip repair was conducted at median age 4 days (inter-quartile range [IQR] = 4), and late repair at 104 days (IQR = 57). Main Outcome Measures: Ratings of surgical outcome (Experiment 1 only) and attractiveness (all experiments) on 5-point Likert scales. Results: In Experiment 1 success of surgical outcome was comparable for early and late repair groups (difference = -0.08; 95% confidence interval [CI] = -0.43 to 0.28; p = .66). In all three experiments, attractiveness ratings were comparable for the two groups. Differences were, respectively, 0.10 (95% CI = -2.3 to 0.44, p = .54); -0.11 (95% CI = -0.42 to -0.19, p = .54); and 0.08 (95% CI = -0.11 to 0.28, p =.41). Normal infants were rated more attractive than index infants (difference = 0.38; 95% CI = 0.24 to 0.52; p < .001). Conclusion: Neonatal repair for cleft of the lip confers no advantage over repair at 3 months in terms of perceived infant attractiveness or success of surgical outcome.

The effect of cleft lip on socio-emotional functioning in school-aged children

Background: Children with cleft lip are known to be at raised risk for socio-emotional difficulties, but the nature of these problems and their causes are incompletely understood; longitudinal studies are required that include comprehensive assessment of child functioning, and consideration of developmental mechanisms. Method: Children with cleft lip (with and without cleft palate) (N = 93) and controls (N = 77), previously studied through infancy, were followed up at 7 years, and their socio-emotional functioning assessed using teacher and maternal reports, observations of social interactions, and child social representations (doll play). Direct and moderating effects of infant attachment and current parenting were investigated, as was the role of child communication difficulties and attractiveness. Results: Children with clefts had raised rates of teacher-reported social problems, and anxious and withdrawn-depressed behaviour; direct observations and child representations also revealed difficulties in social relationships. Child communication problems largely accounted for these effects, especially in children with cleft palate as well as cleft lip. Insecure attachment contributed to risk in both index and control groups, and a poorer current parenting environment exacerbated the difficulties of those with clefts. Conclusions: Children with clefts are at raised risk for socio-emotional difficulties in the school years; clinical interventions should focus on communication problems and supporting parenting; specific interventions around the transition to school may be required. More generally, the findings reflect the importance of communication skills for children’s peer relations.

The effect of cleft lip on adults' responses to faces: cross-species findings

Cleft lip and palate is the most common of the congenital conditions affecting the face and cranial bones and is associated with a raised risk of difficulties in infant-caregiver interaction; the reasons for such difficulties are not fully understood. Here, we report two experiments designed to explore how adults respond to infant faces with and without cleft lip, using behavioural measures of attractiveness appraisal (‘liking’) and willingness to work to view or remove the images (‘wanting’). We found that infants with cleft lip were rated as less attractive and were viewed for shorter durations than healthy infants, an effect that was particularly apparent where the cleft lip was severe. Women rated the infant faces as more attractive than men did, but there were no differences in men and women's viewing times of these faces. In a second experiment, we found that the presence of a cleft lip in domestic animals affected adults' ‘liking’ and ‘wanting’ responses in a comparable way to that seen for human infants. Adults' responses were also remarkably similar for images of infants and animals with cleft lip, although no gender difference in attractiveness ratings or viewing times emerged for animals. We suggest that the presence of a cleft lip can substantially change the way in which adults respond to human and animal faces. Furthermore, women may respond in different ways to men when asked to appraise infant attractiveness, despite the fact that men and women ‘want’ to view images of infants for similar durations.

Adult palatum as a novel source of neural crest-related stem cells

Somatic neural and neural crest stem cells are promising sources for cellular therapy of several neurodegenerative diseases. However, because of practical considerations such as inadequate accessibility of the source material, the application of neural crest stem cells is strictly limited. The secondary palate is a highly regenerative and heavily innervated tissue, which develops embryonically under direct contribution of neural crest cells. Here, we describe for the first time the presence of nestin-positive neural crest-related stem cells within Meissner corpuscles and Merkel cell-neurite complexes located in the hard palate of adult Wistar rats. After isolation, palatal neural crest-related stem cells (pNC-SCs) were cultivated in the presence of epidermal growth factor and fibroblast growth factor under serum-free conditions, resulting in large amounts of neurospheres. We used immunocytochemical techniques and reverse transcriptase-polymerase chain reaction to assess the expression profile of pNC-SCs. In addition to the expression of neural crest stem cell markers such as Nestin, Sox2, and p75, we detected the expression of Klf4, Oct4, and c-Myc. pNC-SCs differentiated efficiently into neuronal and glial cells. Finally, we investigated the potential expression of stemness markers within the human palate. We identified expression of stem cell markers nestin and CD133 and the transcription factors needed for reprogramming of somatic cells into pluripotent cells: Sox2, Oct4, Klf4, and c-Myc. These data show that cells isolated from palatal rugae form neurospheres, are highly plastic, and express neural crest stem cell markers. In addition, pNC-SCs may have the ability to differentiate into functional neurons and glial cells, serving as a starting point for therapeutic studies.

Alternative generation of CNS neural stem cells and PNS derivatives from neural crest-derived peripheral stem cells

Neural crest-derived stem cells (NCSCs) from the embryonic peripheral nervous system (PNS) can be reprogrammed in neurosphere (NS) culture to rNCSCs that produce central nervous system (CNS) progeny, including myelinating oligodendrocytes. Using global gene expression analysis we now demonstrate that rNCSCs completely lose their previous PNS characteristics and acquire the identity of neural stem cells derived from embryonic spinal cord. Reprogramming proceeds rapidly and results in a homogenous population of Olig2-, Sox3-, and Lex-positive CNS stem cells. Low-level expression of pluripotency inducing genes Oct4, Nanog, and Klf4 argues against a transient pluripotent state during reprogramming. The acquisition of CNS properties is prevented in the presence of BMP4 (BMP NCSCs) as shown by marker gene expression and the potential to produce PNS neurons and glia. In addition, genes characteristic for mesenchymal and perivascular progenitors are expressed, which suggests that BMP NCSCs are directed toward a pericyte progenitor/mesenchymal stem cell (MSC) fate. Adult NCSCs from mouse palate, an easily accessible source of adult NCSCs, display strikingly similar properties. They do not generate cells with CNS characteristics but lose the neural crest markers Sox10 and p75 and produce MSC-like cells. These findings show that embryonic NCSCs acquire a full CNS identity in NS culture. In contrast, MSC-like cells are generated from BMP NCSCs and pNCSCs, which reveals that postmigratory NCSCs are a source for MSC-like cells up to the adult stage.

Effects of infant cleft lip on adult gaze and perceptions of ‘cuteness'

Objective: Early mother-infant interactions are impaired in the context of infant cleft lip, and are associated with adverse child psychological outcomes, but the nature of these interaction difficulties is not yet fully understood. The aim of this study was to explore adult gaze behaviour and cuteness perception, which are particularly important during early social exchanges, in response to infants with cleft lip, in order to investigate potential foundations for the interaction difficulties seen in this population. Methods: Using an eye-tracker, eye movements were recorded as adult participants viewed images of infant faces with and without cleft lip. Participants also rated each infant on a scale of cuteness. Results: Participants fixated significantly longer on the mouths of infants with cleft lip, which occurred at the expense of fixation on eyes. Severity of cleft lip was associated with the strength of fixation bias, with participants looking even longer at the mouths of infants with the most severe clefts. Infants with cleft lip were rated as significantly less cute than unaffected infants. Men rated infants as less cute than women overall, but gave particularly low ratings to infants with cleft lip Conclusions: Results demonstrate that the limited disturbance in infant facial configuration of cleft lip can significantly alter adult gaze patterns and cuteness perception. Our findings could have important implications for early interactions, and may help in the development of interventions to foster healthy development in infants with cleft lip.

Holoprosencephaly and Holoprosencephaly-Like Phenotypes: Review of Facial and Molecular Findings in Patients From a Craniofacial Hospital in Brazil

Here we report on the clinical and genetic data for a large sample of Brazilian patients studied at the Hospital de Reabilitacao de Anomalas Craniofaciais-Universidade de Sao Paulo (HRAC-USP) who presented with either the classic holoprosencephaly or the holoprosencephaly-like (HPE-L) phenotype. The sample included patients without detected mutations in some HPE determinant genes such as SHH, GLI2, SIX3, TGIF, and PTCH, as well as the photographic documentation of the previously reported patients in our Center. The HPE-L phenotype has been also called of HPE ``minor forms"" or ""microforms,"" The variable phenotype, the challenge of genetic counseling, and the similarities to patients with isolated cleft lip/palate are discussed. (c) 2010 Wiley-Liss, Inc.

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: Identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis

We present clinical and molecular evaluation from a large cohort of patients with Stickler syndrome: 78 individuals from 21 unrelated Brazilian families. The patients were selected in a Hospital with a craniofacial dysmorphology assistance service and clinical diagnosis was based on the presence of cleft palate associated to facial and ocular anomalies of Stickler syndrome. Analysis of COL2A1 gene revealed 9 novel and 4 previously described pathogenic mutations. Except for the mutation c.556G>T (p.Gly186X), all the others were located in the triple helical domain. We did not find genotype/phenotype correlation in relation to type and position of the mutation in the triple helical domain. However, a significantly higher proportion of myopia in patients with mutations located in this domain was observed in relation to those with the mutation in the non-tripe helical domain (c.556G>T; P < 0.04). A trend towards a higher prevalence of glaucoma, although not statistically significant, was observed in the presence of the mutation c.556G>T. It is possible. that this mutation alters the splicing of the mRNA instead of only creating a premature stop codon and therefore it can lead to protein products of different ocular effects. One novel DNA variation (c.1266+7G>C) occurs near a splice site and it was observed to co-segregate with the phenotype in one of the two families with this DNA variation. As in silico analysis predicted that the c.1266+7G>C DNA variation can affect the efficiency of the splicing, we still cannot rule it out as non-pathogenic. Our study also showed that ascertainment through cleft palate associated to other craniofacial signs can be very efficient for identification of Stickler syndrome patients. Still, high frequency of familial cases and high frequency of underdevelopment of distal lateral tibial epiphyses observed in our patients suggested that the inclusion of this information can improve the clinical diagnosis of Stickler syndrome. (C) 2008 Elsevier Masson SAS. All rights reserved.

Frontonasal Dysplasia, Severe Neuropsychological Delay, and Midline Central Nervous System Anomalies: Report of 10 Brazilian Male Patients

Here we report on 10 male patients with frontonasal dysplasia, cleft lip/palate, mental retardation, lack of language acquisition, and severe central nervous system involvement. Imaging studies disclosed absence of the corpus callosum, midline cysts, and an abnormally modeled cerebellum. Neuronal heterotopias were present in five patients and parieto-occipital encephalocele in three patients. We suggest that this pattern found exclusively in males, most likely represents a newly recognized syndrome distilled from the group of disorders subsumed under frontonasal dysplasia. (C) 2009 Wiley-Liss, Inc.