Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient

BACKGROUND: Lacrimo-auriculo-dento-digital (LADD) syndrome (OMIM #149730) is an autosomal-dominant congenital disorder that can be caused by heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 (FGFR2) and 3 (FGFR3), and has been found in association with a mutation in the FGF10 gene, which encodes an Fgfr ligand. Clinical signs vary, but the condition is characterised by involvement of the lacrimal and salivary systems, cup-shaped ears, hearing loss and dental abnormalities. Additional features may include involvement of the hands and feet with other body systems particularly the kidneys.

CASE REPORT: Previous literature on the subject has been reviewed and this case is the first presentation of LADD syndrome in the Republic of Ireland, as a sporadic case in a 12-year-old girl who exhibited a range of dental and digital anomalies.

TREATMENT: Her general medical practitioner managed her medical care whilst her oral care necessitated a multidisciplinary approach involving restorative and orthodontic elements.

FOLLOW-UP: The initial restorative phase of treatment has successfully improved the appearance of the patient's anterior teeth using direct resin composite build-ups.

Further evidence consistent with Yqh as an indicator of risk of gonadal blastoma in Y-bearing mosaic Turner syndrome

An 8-year-old girl with some features of Turner syndrome and karyotype 45X/46XY had developed a bilateral gonadoblastoma in her rudimentary ovaries. Her normal Y chromosome showed the characteristic distal fluorescence, as seen in her father's. Another mosaic, this time 45X/46XidicY, and also with some Turner features had rudimentary ovaries, but no gonadoblastoma had developed at age 14. The nature of her idicY, which showed no fluorescent distal Yq and had one of the centromeres inactivated, was confirmed by in situ hybridisation with a Yp-specific probe. Using primers from a human Yp-specific sequence, we amplified DNA extracted from paraffin-embedded ovarian tissue from both cases, and from a normal testicle and a normal ovary as controls. The finding of the expected Y-derived PCR product in the rudimentary gonads from these mosaic patients indicates the presence of their Y chromosome in both. We discuss the validity of the findings, and the possible role of sequences in or near the fluorescent part of Yq in the origin of gonadoblastoma in Y-bearing mosaic Turner syndrome.

Doing Gendered Time: The Harms of Women's Imprisonment

This chapter focuses on women’s imprisonment in the context of gendered punishment inflicted by the State. It considers the gender-specific consequences of incarceration for women prisoners and the potential of gender-responsive alternatives to custodial sentences. Following a brief historical overview, it traces the rise and consolidation of women’s incarceration in UK jurisdictions, noting the significance of devolution on the prison systems of Scotland and Northern Ireland. In examining the impact of neo-liberal policies and globalisation on women’s imprisonment, it draws comparisons with other advanced democratic states. Analysing the rationale underpinning the disproportionate rise in women’s incarceration, particularly in the UK and the USA the chapter identifies the persistent tensions between retributivism/ incapacitation and reformism/rehabilitation. Drawing on international research demonstrating the complex needs and vulnerabilities of women and girl prisoners, the chapter reveals the gendered harm experienced within penal regimes and the recent development - and limitations - of official gender-specific policies and practices. The emergence of distinct but related political discourses on ‘risk’ and ‘responsibilisation’ as applied to women in conflict with the law, and their consequent criminalisation, is critiqued in the contexts of structural disadvantage, gender discrimination and institutionalised racism. Within these oppressive dynamics often severe deprivations are inflicted on women’s acts of resistance both inside prison and in their communities post-release, further confining the potential of individual and collective agency. Finally, the chapter proposes fundamental change through establishing women-centred alternatives to prison, alongside policies committed to decarceration, while working towards securing the abolition of women’s imprisonment.

Sexe de l’enfant et investissement parental: le cas d’Haïti

Bon nombre d’études révèlent que, dans les pays en développement, la préférence des parents pour un sexe en particulier les pousse souvent à traiter leurs enfants inéquitablement. Pour déterminer si ce phénomène existe en Haïti, cette étude s’inspire des travaux de Barcellos et al. (2014) sur les parents indiens dont les résultats, obtenus à partir des données d’enquête démographique et de santé (DHS 1992), suggèrent une discrimination au détriment des filles. Cette discrimination a lieu au niveau du temps et des ressources consacrés à prendre soin de l’enfant suite à sa naissance. Les résultats obtenus à l’aide des données nationales révèlent qu’en 1994, parmi les variables d’intérêt (allaitement, immunisation, vitamine A), seule la probabilité d’allaitement semble varier par sexe en faveur des garçons en Haïti. Tout nouveau-né de sexe masculin a une probabilité de 3,2 points de pourcentage plus élevée d’être allaité que le sexe opposé. Des données plus récentes révèlent que le sexe de l’enfant n’a aucun impact sur la probabilité d’être allaité en 2000. Par contre, en 2005 l’effet de cette probabilité est contraire à celui observé en 1994. En l’occurrence, si le nouveau-né est de sexe féminin elle a 2,4 points de pourcentage de plus que les garçons d’être allaité. De plus, considérant les enfants de 0 à 59 mois, les estimations révèlent qu’en 2005 la durée de l’allaitement augmente de 11,2% si l’enfant est une fille. Mots clés: Investissement, Haïti, enfant, sexe, allaitement, mère, immunisation, anthropométrie, 1994, 2000, 2005.

Children’s Friendships and Learning in School: Cognitive Enhancement Through Social Interaction?

Background. Recent literature has identified that children's performance on cognitive (or problem-solving) tasks can be enhanced when undertaken as a joint activity among pairs of pupils. Performance on this ‘social’ activity will require quality relationships between pupils, leading some researchers to argue that friendships are characterized by these quality relationships and, therefore, that friendship grouping should be used more frequently within classrooms. Aims. Children's friendship grouping may appear to be a reasonable basis for cognitive development in classrooms, although there is only inconsistent evidence to support this argument. The inconsistency may be explained by the various bases for friendship, and how friendship is affected by cultural contexts of gender and schooling. This study questions whether classroom-based friendship pairings will perform consistently better on a cognitive task than acquaintance pairings, taking into account gender, age, and ability level of children. The study also explores the nature of school-based friendship described by young children. Sample. 72 children were paired to undertake science reasoning tasks (SRTs). Pairings represented friendship (versus acquaintance), sex (male and female pairings), ability (teacher-assessed high, medium, and low), and age (children in Years 1, 3, and 5 in a primary school). Method. A small-scale quasi-experimental design was used to assess (friendship- or acquaintance-based) paired performance on SRTs. Friendship pairs were later interviewed about qualities and activities that characterized their friendships. Results. Girls' friendship pairings were found to perform at the highest SRT levels and boys' friendship pairing performed at the lowest levels. Both boy and girl acquaintance pairings performed at mid-SRT levels. These findings were consistent across Year (in school) levels and ability levels. Interviews revealed that male and female friendship pairs were likely to participate in different types of activity, with girls being school-inclusive and boys being school-exclusive. Conclusion. Recommendations to use friendship as a basis for classroom grouping for cognitive tasks may facilitate performance of some pairings, but may also inhibit the performance of others. This is shown very clearly with regard to gender. Some of the difference in cognitive task performance may be explained by distinct, cultural (and social capital) orientations to friendship activities, with girls integrating school and educational considerations into friendship, and boys excluding school and educational considerations.

Contigo eu posso : caminhos da aprendizagem de uma menina com Síndrome de Down

Dissertação de mestrado, Ciências da Educação (Área de especialização em Educação Intercultural), Universidade de Lisboa. Instituto de Educação, 2015

Vou-te dar um brinquedo de menino: um carro … ou o desmistificar as questões de género no Jardim de Infância

Relatório da Prática Profissional Supervisionada Mestrado em Educação Pré-Escolar

Ser menina é gostar de cor-de-rosa: desocultar questões de género no jardim de infância

Relatório da Prática Profissional Supervisionada apresentado à Escola Superior de Educação de Lisboa para obtenção de grau de mestre em Educação Pré-Escolar

A brincadeira e o género em jardim-de-infância

Relatório da Prática Profissional Supervisionada Mestrado em Educação Pré-Escolar

A criança invisual é tão apta à aprendizagem como as restantes

Relatório de Estágio apresentado à Escola Superior de Educação de Lisboa para obtenção do grau de mestre em Ensino do 1.º e 2.º Ciclo do Ensino Básico

N’A Barraca com Maria do Céu Guerra em Dona Maria, a louca, de António Cunha: relatório de estágio

Relatório de Estágio submetido à Escola Superior de Teatro e Cinema para cumprimento dos requisitos necessários à obtenção do grau de Mestre em Teatro - especialização em Artes Performativas - Interpretação.

In what extent can a segmented packaging make children choose healthier breakfast cereals?

Field lab in marketing: Children consumer behaviour

Young adult Brazilian beauty consumers perception of Lancôme and the effectiveness of social media relationhips with local celebrities on their purchase intention

The aim of this research is to evaluate if a premium beauty brand, in this case, Lancôme, can influence positively the purchase intention from Brazilian young adults, between 18 and 29 years old, consumers of beauty products, by initiating a relationship with a local celebrity or “it” girl on social media. This hypothesis has not been tested, and this research is a first attempt of evaluating it. Additionally, the consumer behavior, brand preferences and social media activeness of this age segment in Brazil are further studied as important insights for beauty brands to conquer these consumers. Results did not confirm the positive influence of local celebrities on this age segment’s purchase intention but several suggestions are made for future research to revisit this topic. Furthermore, there is a significant brand love for M.A.C., an international Lancôme competitor, amongst this target, as well as a probable price sensitivity facing premium beauty brands.

New York City: "gilt cage" or "promised land" ? : representations of urban space in Edith Wharton and Anzia Yezierska

This thesis explores the importance of literary New York City in the urban narratives of Edith Wharton and Anzia Yezierska. It specifically looks at the Empire City of the Progressive Period when the concept of the city was not only a new theme but also very much a typical American one which was as central to the American experience as had been the Western frontier. It could be argued, in fact, that the American city had become the new frontier where modern experiences like urbanization, industrialization, immigration, and also women's emancipation and suffrage, caused all kinds of sensations on the human scale from smoothly lived assimilation and acculturation to deeply felt alienation because of the constantly shifting urban landscape. The developing urban space made possible the emergence of new female literary protagonists like the working girl, the reformer, the prostitute, and the upper class lady dedicating her life to 'conspicuous consumption'. Industrialization opened up city space to female exploration: on the one hand, upper and middle class ladies ventured out of the home because of the many novel urban possibilities, and on the other, lower class and immigrant girls also left their domestic sphere to look for paid jobs outside the home. New York City at the time was not only considered the epicenter of the world at large, it was also a city of great extremes. Everything was constantly in flux: small brownstones made way for ever taller skyscrapers and huge waves of immigrants from Europe pushed native New Yorkers further uptown on the island, adding to the crowdedness and intensity of the urban experience. The city became a polarized urban space with Fifth Avenue representing one end of the spectrum and the Lower East Side the other. Questions of space and the urban home greatly mattered. It has been pointed out that the city setting functions as an ideal means for the display of human nature as well as social processes. Narrative representations of urban space, therefore, provide a similar canvas for a protagonist's journey and development. From widely diverging vantage points both Edith Wharton and Anzia Yezierska thus create a polarized city where domesticity is a primal concern. Looking at all of their New York narratives by close readings of exterior and interior city representations, this thesis shows how urban space greatly affects questions of identity, assimilation, and alienation in literary protagonists who cannot escape the influence of their respective urban settings. Edith Wharton's upper class "millionaire" heroines are framed and contained by the city interiors of "old" New York, making it impossible for them to truly participate in the urban landscape in order to develop outside of their 'Gilt Cages'. On the other side are Anzia Yezierska's struggling "immigrant" protagonists who, against all odds, never give up in their urban context of streets, rooftops, and stoops. Their New York City, while always challenging and perpetually changing, at least allows them perspectives of hope for a 'Promised Land' in the making. Central for both urban narrative approaches is the quest for a home as an architectural structure, a spiritual resting place, and a locus for identity forming. But just as the actual city embraces change, urban protagonists must embrace change also if they desire to find fulfillment and success. That this turns out to be much easier for Anzia Yezierska's driven immigrants rather than for Edith Wharton's well established native New Yorkers is a surprising conclusion to this urban theme.

Tracking the source of cerebellar epilepsy: hemifacial seizures associated with cerebellar cortical dysplasia.

Traditionally, subcortical structures such as the cerebellum are supposed to exert a modulatory effect on epileptic seizures, rather than being the primary seizure generator. We report a 14-month old girl presenting, since birth, with seizures symptomatic of a right cerebellar dysplasia, manifested as paroxystic contralateral hemifacial spasm and ipsilateral facial weakness. Multimodal imaging was used to investigate both anatomical landmarks related to the cerebellar lesion and mechanisms underlying seizure generation. Electric source imaging (ESI) supported the hypothesis of a right cerebellar epileptogenic generator in concordance with nuclear imaging findings; subsequently validated by intra-operative intralesional recordings. Diffusion spectrum imaging-related tractography (DSI) showed severe cerebellar structural abnormalities confirmed by histological examination. We suggest that hemispheric cerebellar lesions in cases like this are likely to cause epilepsy via an effect on the facial nuclei through ipsilateral and contralateral aberrant connections.