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.

Overconfidence, sexual health awareness and sexual health risk among young female users of sexual health clinics

This study explored the patterning of young people’s sexual health competence, and how this relates to sexual health outcomes. A survey of 381 young people attending two sexual health clinics in Northern Ireland was carried out between 2009 and 2010. Latent profile analysis of self-rated decision making, self-rated sexual health knowledge, and knowledge of sexually transmitted disease questionnaire scores was used to determine typologies of sexual health competence. Analysis revealed three categories of sexual health competence and explored their association with other behaviours and social characteristics. Young people’s subjective opinion of their sexual health competency, when not matched with a corresponding knowledge of sexual health, could place people at an increased risk of poor sexual health outcomes. Greater levels of peer pressure to have sex and early sexual debut were associated with poorer sexual health knowledge. This finding warrants further investigation, as the importance of self-perceived competence for sexual health screening and education programmes are considerable.

A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD)

Age-related macular degeneration (AMD) is the leading cause of blindness among white caucasians over the age of 50 years with a prevalence rate expected to increase markedly with an anticipated increase in the life span of the world population. To further expand our knowledge of the genetic architecture of the disease, we pursued a candidate gene approach assessing 25 genes and a total of 109 variants. Of these, synonymous single nucleotide polymorphism (SNP) rs17810398 located in death-associated protein-like 1 (DAPL1) was found to be associated with AMD in a joint analysis of 3,229 cases and 2,835 controls from five studies [combined P ADJ = 1.15 × 10(-6), OR 1.332 (1.187-1.496)]. This association was characterized by a highly significant sex difference (P diff = 0.0032) in that it was clearly confined to females with genome-wide significance [P ADJ = 2.62 × 10(-8), OR 1.541 (1.324-1.796); males: P ADJ = 0.382, OR 1.084 (0.905-1.298)]. By targeted resequencing of risk and non-risk associated haplotypes in the DAPL1 locus, we identified additional potentially functional risk variants, namely a common 897-bp deletion and a SNP predicted to affect a putative binding site of an exonic splicing enhancer. We show that the risk haplotype correlates with a reduced retinal transcript level of two, less frequent, non-canonical DAPL1 isoforms. DAPL1 plays a role in epithelial differentiation and may be involved in apoptotic processes thereby suggesting a possible novel pathway in AMSaveD pathogenesis.

New governance for higher education institutions:prospects for female university careers and equality law

This paper analyses the reforms in employment conditions at German public universities from the 1990s to the 2000s, considering how these impact on practical equal opportunities between women and men. It concludes that while the so called "new governance" in universities would have offered opportunities to integrate positive measures to increase female participation in research and teaching, these opportunities were missed in most German states.

Who Tells What to Whom and How: The Prisons Memory Archive

This essay will consider the recording and exhibition of stories from a conflicted past in a contested present; who gets to tell what stories to whom and under what conditions? I will use the case study of the online Prisons Memory Archive (PMA) – a collection of filmed interviews at the locations of the Maze and Long Kesh Prison, which held male prisoners, and Armagh Gaol, which held female prisoners. Both operated during the period of political violence during the last third of the 20th century in the North of Ireland (www.prisonsmemoryarchive.com). As Director of the PMA, I was involved from research through production to exhibition.

Female narratives of ‘new’ citizens’ belonging(s) and identities in Europe: case studies from the Netherlands and Britain

Public discourses on citizenship, identity and nationality, which link geographical borders and the political boundaries of a community, are infused with tensions and contradictions. This paper illustrates how these tensions are interwoven with multilayered notions of home, belonging, migration, citizenship and individual’s ‘longing just to be’, focusing on the Dutch and the British context. The narratives of a number of Dutch and British women, who either immigrated to the respective countries or were born to immigrants, illustrate how the growing rigid integration and assimilative discourses in Europe contradict an individual anchoring in national and local communities. The narratives of women participating in these studies show multilayered angles of belonging presenting an alternative to the increasing strong argument for a fixed notion of positioning and national belonging. The female ‘new’ citizens in our study tell stories of individual choices, social mobility and a sense of multiple belonging in and across different communities.

Inbreeding uncovers fundamental differences in the genetic load affecting male and female fertility in a butterfly

Inbreeding depression is most pronounced for traits closely associated with fitness. The traditional explanation is that natural selection eliminates deleterious mutations with additive or dominant effects more effectively than recessive mutations, leading to directional dominance for traits subject to strong directional selection. Here we report the unexpected finding that, in the butterfly Bicyclus anynana, male sterility contributes disproportionately to inbreeding depression for fitness (complete sterility in about half the sons from brother-sister matings), while female fertility is insensitive to inbreeding. The contrast between the sexes for functionally equivalent traits is inconsistent with standard selection arguments, and suggests that trait-specific developmental properties and cryptic selection play crucial roles in shaping genetic architecture. There is evidence that spermatogenesis is less developmentally stable than oogenesis, though the unusually high male fertility load in B. anynana additionally suggests the operation of complex selection maintaining male sterility recessives. Analysis of the precise causes of inbreeding depression will be needed to generate a model that reliably explains variation in directional dominance and reconciles the gap between observed and expected genetic loads carried by populations. This challenging evolutionary puzzle should stimulate work on the occurrence and causes of sex differences in fertility load.

Surviving the industrial city: the female poor and the workhouse in late nineteenth-century Belfast

In common with many British cities, but unlike the rest of Ireland, late nineteenth-century Belfast experienced rapid industrialization and physical expansion. Women formed a significant proportion of the city’s workforce, attracted by the employment opportunities represented in the burgeoning textile industry. Many of them were economically vulnerable, however, and could find themselves destitute for a number of reasons. This article sets Belfast’s Poor Law workhouse in the landscape of welfare in the city, exploring how its use reflected the development of the city and the ways in which the female poor engaged with it in order to survive.