67 research outputs found
Attitudes towards the ‘stranger’: negotiating encounters with difference in the UK and Poland
Due to recent intensification in international mobility in Europe, its citizens are exposed to a much wider range of lifestyles and competing attitudes towards difference. Individuals are, therefore, increasingly likely to encounter ‘strangers’ and are, therefore, required to negotiate discontinuities and contradictions between the values that are transmitted through different sites. In response, the article explores the concept of the ‘stranger’ through original data collected in the UK and Poland. The article highlights that the construction of who is a stranger depends on national historical contexts, core values and related visions of the society. The UK and Poland have very different histories and experiences with social diversity, impacting on the ways in which individuals negotiate strange encounters. In both countries, the ‘stranger’ is often seen in a negative way and in relation to the minority groups that are perceived to be visibly different, distinct or ‘unknown’ in contemporary times. In Poland, this is now largely articulated through sexual prejudice (homophobia), whilst in the UK, attitudes towards the ‘stranger’ are largely conveyed through religious prejudice (Islamophobia). As such, the article offers a means of understanding how encounters with difference ‘produce’ strangers in different contexts
Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population
Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder caused by the deficiency of the lysosomal enzyme, alpha -L -iduronidase, and the resulting accumulation of undergraded dematan sulfate and heparan sulfate. MPS I patients have a wide range of clinical presentations, that makes it difficult to predict patient phenotype which is needed for genetic counseling and also impedes the selection and evaluation of patients undergoing therapy bone marrow transplantation
The Impact of International Migration and Remittances on the Labor-Supply Behavior of Those Left Behind: Evidence from Egypt
We analyze in this paper the impact of male-dominated migration and remittance income on the participation and hours worked decisions of adults left behind, including the hours spent by women in subsistence and domestic work. We differentiate between a 'pure' migration (M) effect and the joint effect of migration and remittance income (MR) and evaluate these effects for men and women separately. Additionally, we examine the labor supply behavior of wives whose husband migrated. We draw on the 2006 cross section using an instrumental variable approach as well as on the 1998/2006 panel of the Egypt Labor Market Panel Survey (ELMPS06). In line with the literature, women in MR households (albeit not in M households) tend to reduce their wage and salary work. We find evidence for both intra-household specialization and an increase in women's (and wives') total work load. Men are generally less affected. Our results suggest that it is important to differentiate between these two effects and between the different forms of market and non-market work as well as to consider the relationship between remitter and recipient
Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism
Although autism has a clear genetic component, the high genetic heterogeneity of the disorder has been a challenge for the identification of causative genes. We used homozygosity analysis to identify probands from nonconsanguineous families that showed evidence of distant shared ancestry, suggesting potentially recessive mutations. Whole-exome sequencing of 16 probands revealed validated homozygous, potentially pathogenic recessive mutations that segregated perfectly with disease in 4/16 families. The candidate genes (UBE3B, CLTCL1, NCKAP5L, ZNF18) encode proteins involved in proteolysis, GTPase-mediated signaling, cytoskeletal organization, and other pathways. Furthermore, neuronal depolarization regulated the transcription of these genes, suggesting potential activity-dependent roles in neurons. We present a multidimensional strategy for filtering whole-exome sequence data to find candidate recessive mutations in autism, which may have broader applicability to other complex, heterogeneous disorders
Consanguinity and reproductive health among Arabs
Consanguineous marriages have been practiced since the early existence of modern humans. Until now consanguinity is widely practiced in several global communities with variable rates depending on religion, culture, and geography. Arab populations have a long tradition of consanguinity due to socio-cultural factors. Many Arab countries display some of the highest rates of consanguineous marriages in the world, and specifically first cousin marriages which may reach 25-30% of all marriages. In some countries like Qatar, Yemen, and UAE, consanguinity rates are increasing in the current generation. Research among Arabs and worldwide has indicated that consanguinity could have an effect on some reproductive health parameters such as postnatal mortality and rates of congenital malformations. The association of consanguinity with other reproductive health parameters, such as fertility and fetal wastage, is controversial. The main impact of consanguinity, however, is an increase in the rate of homozygotes for autosomal recessive genetic disorders. Worldwide, known dominant disorders are more numerous than known recessive disorders. However, data on genetic disorders in Arab populations as extracted from the Catalogue of Transmission Genetics in Arabs (CTGA) database indicate a relative abundance of recessive disorders in the region that is clearly associated with the practice of consanguinity
Ageing and Elderly Care in the Arab Region: Policy Challenges and Opportunities
Populations are expected to age rapidly in the Arab countries during the coming few decades. However, the current evidence base indicates that many countries in the region are not paying attention to this demographic phenomenon. This is a particular concern as longevity is often accompanied by many years of ill health and disability and most of the countries in the region continue to rely on the family as the primary source of elder care. While the family, and particularly women, are expected to provide increasing support for longer, they are faced by a set of socio-demographic changes that may hinder their ability to provide such care. This paper focuses on the ageing demographics in the Arab region and reflects on the multiple-roles for women by utilising quantitative analysis of international population and socio-economic indicators as well as reviewing the background literature and current ageing policies in the region. The paper then discusses possible strategies to address increasing long-term care needs through a social capital lens, where support to informal carers particularly women is emphasised.Populations are expected to age rapidly in the Arab countries during the coming few decades. However, the current evidence base indicates that many countries in the region are not paying attention to this demographic phenomenon. This is a particular concern as longevity is often accompanied by many years of ill health and disability and most of the countries in the region continue to rely on the family as the primary source of elder care. While the family, and particularly women, are expected to provide increasing support for longer, they are faced by a set of socio-demographic changes that may hinder their ability to provide such care. This paper focuses on the ageing demographics in the Arab region and reflects on the multiple-roles for women by utilising quantitative analysis of international population and socio-economic indicators as well as reviewing the background literature and current ageing policies in the region. The paper then discusses possible strategies to address increasing long-term care needs through a social capital lens, where support to informal carers particularly women is emphasised
Is vulnerability to climate change gendered? And how? Insights from Egypt
Most climate change literature tends to downplay the gendered nature of vulnerability. At best, gender is discussed in terms of the male-female binary, seen as opposing forces rather than in varying relations of interdependency. Such construction can result in the adoption of maladaptive culturally unfit gender-blind policy and interventions. In Egypt, which is highly vulnerable to climate change, gender analysis of vulnerability is almost non-existent. This paper addresses this important research gap by asking and drawing on a rural Egyptian context ‘How do the gendered relational aspects of men’s and women’s livelihoods in the household and community influence vulnerability to climate change?’. To answer this question, I draw on gender analysis of social relations, framed within an understanding of sustainable livelihoods. During 16 months of fieldwork, I used multiple ethnographic methods to collect data from two culturally and ethnically diverse low-income villages in Egypt. My main argument is that experiences of climate change are closely intertwined with gender and wider social relations in the household and community. These are shaped by local gendered ideologies and cultures that are embedded in conjugal relations, kinship and relationship to the environment, as compared across the two villages. In this paper, I strongly argue that vulnerability to climate change is highly gendered and therefore gender analysis should be at the heart of climate change discourses, policy and interventions
An evaluation of needs of female BRCA1 and BRCA2 carriers undergoing genetic counselling
BACKGROUND—The discovery of the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 has improved our ability to counsel women at increased risk of developing breast and ovarian cancer. The objective of our study was to identify the needs of women who have undergone genetic counselling and testing for BRCA1/2 and to determine the impact of receiving a positive BRCA1/2 result. This is the first study to report on a large group of women who have received positive BRCA1/2 mutation results.
METHODS—Questionnaires were distributed to 105 women who had received pre- and post-test genetic counselling for a positive BRCA1/2 result at the University of Toronto or at McGill University in Montreal, Canada between the years of 1994 and 1998. The questionnaire items included patient motivation for seeking genetic services, information needs, screening and prophylactic surgery practices, satisfaction with access to services and support, the desire for a support group, and overall client satisfaction.
RESULTS—Seventy nine female carriers were surveyed. The majority of the respondents (77%) were satisfied with the information they received during the genetic counselling process. Women with a previous diagnosis of cancer indicated that they needed more information relating to cancer treatment compared to women without cancer (p=0.05). Nineteen percent of the women felt they needed more support than was received. Fifty eight percent of the women reported that their screening practices had changed since they received their result. Young women (below the age of 50) and women with no previous diagnosis of cancer were most likely to have changed their screening practices. Nearly two thirds of the respondents said they had considered prophylactic surgery of the breasts or ovaries. Twenty eight percent of the women had prophylactic mastectomy and 54% had undergone prophylactic oophorectomy. Women with an educational level of high school or more were more likely to have undergone prophylactic bilateral mastectomy than those with less education (p=0.07) but were less likely to undergo prophylactic oophorectomy (p=0.0007).
CONCLUSION—These findings have a direct impact on the counselling and risk management of female BRCA mutation carriers. Age, education, and a previous diagnosis of cancer are important determinants in a woman's decision making after receiving positive genetic test results.


Keywords: genetic counselling; BRCA1; BRCA2; cancer genetic
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