Sofia Marques da Silva

Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation

Our study describes the adult clinical and biochemical spectrum of guanidinoacetate methyltransferase (GAMT) deficiency, a recently discovered inborn error of metabolism. The majority of the previous reports dealt with pediatric patients, in contrast to the present study. A total of 180 institutionalized patients with a severe mental handicap were investigated for urine and plasma uric acid and creatinine. Patients with an increased urinary uric acid/creatinine ratio and/or decreased creatinine were subjected to the analysis of guanidinoacetate (GAA). Four patients (three related and one from an unrelated family) were identified with GAMT‐deficiency. A fifth patient had died before a biochemical diagnosis could be made. They all had shown a normal psychomotor development for the first year of life, after which they developed a profound mental retardation. Three out of four had convulsions and all four totally lacked the development of speech. Their GAMT activity in lymphoblasts was impaired and two novel mutations were identified: the 59 G > C and 506 G > A missense mutations. Urinary GAA was increased, but highly variable 347–1,624 mmol/mol creat (Controls <150 mmol/mol creat). In plasma and CSF the GAA levels were fairly constant at 17.3–27.0 μmol/L (Controls 1.33–3.33) and 11.0–12.4 μmol/L, respectively (Controls 0.068–0.114). GAMT deficiency in adults is associated with severe mental retardation and absence or limited speech development. Convulsions may be prominent. The nonspecific nature of the clinical findings as well as the limited availability of GAA assays and/or in vivo magnetic resonance spectroscopy of the brain may mean that many more patients remain undiagnosed in institutions for persons with mental handicaps.

Doing educational ethnography in an online world: Methodological challenges, choices and innovations

On any given day, most of us find ourselves using technology and the Internet in a variety of ways. From communicating with a colleague on Skype or sending a message to a student via email to teaching an online course or maintaining a class blog, the Internet has become an integral part of our professional and personal lives. At the same time, we continue to rely on face-to-face interactions experienced in contexts such as faculty meetings, student advising as well as teaching offline courses and conducting onsite research in schools. Our transitions from one activity or communicative interaction to the next seem to occur in a seamless, fluid manner due to the interrelatedness of many of these contexts. The online and offline boundaries become blurred, although still crossed by inequalities and power relation asymmetries (James and Busher 2013). So, how does this new reality influence how we conduct ethnography? Ethnographers are well aware that our social worlds are now marked by daily participation in online communities. The advent of the Internet and computermediated communication (CMC) technologies means that the study of culture is no longer geographically bound (Boyd 2009). Terms such as ‘online ethnography’ (Markham 2005), ‘virtual ethnography’ (Hine 2000) and ‘netnography’ (Kozinets 2010) have been used to describe an ethnographic approach to researching online communities and cyber cultures. Researchers such as Markham (1998), Baym (1999) and Hine (2000) have employed ethnography to study online communities and culture for over a decade. In her study of an online community, Hine (2000) suggested that the online world is distinctly different from the offline; and using technological tools that have borderdefying capabilities presents certain methodological concerns, particularly in defining the field, which involves setting virtual boundaries where to start and stop, in which direction to proceed, which networks to follow and so on. Kendall (2009) suggested that in addition to spatial boundaries like those outlined by Hine, there are also temporal and relational boundaries, which carry ‘spheres of influence’ (e.g. analytical, personal and ethical) that affect methodological choices, which must be taken into consideration. Thus, assuming the Internet as a cultural phenomenon is a place where ethnographers can enter ‘the field’ in the same way as in-person or offline sites may not always make sense for defining research boundaries. Markham (1998) makes the argument that not only is the Internet a place, it is also a tool and a way of being, and each of the aspects poses different methodological choices. Even Hine (2000) and others (Howard and Jones 2004; Wellman and Haythornthwaite 2002) argue that while it has been established that the Internet can be a place where cultural and social phenomena happen, it is also seen as part of everyday life, rather than a Ethnography and Education, 2013 Vol. 8, No. 2, 123 130, http://dx.doi.org/10.1080/17457823.2013.792508

Iodine status and iodised salt consumption in portuguese school-aged children: The iogeneration study

The World Health Organization promotes salt iodisation to control iodine deficiency. In Portugal, the use of iodised salt in school canteens has been mandatory since 2013. The present study aimed to evaluate iodine status in school-aged children (6–12 years) and to monitor the use of iodised salt in school canteens. A total of 2018 participants were randomly selected to participate in a cross-sectional survey in northern Portugal. Children’s urine and salt samples from households and school canteens were collected. A lifestyle questionnaire was completed by parents to assess children’s eating frequency of iodine food sources. Urinary iodine concentration (UIC) was measured by inductively coupled plasma-mass spectrometry. The median UIC was 129 µg/L which indicates the adequacy of iodine status and 32% of the children had UIC < 100 µg/L. No school canteen implemented the iodised salt policy and only 2% of the households were using iodised salt. Lower consumption of milk, but not fish, was associated with a higher risk of iodine deficiency. Estimation of sodium intake from spot urine samples could be an opportunity for adequate monitoring of population means. Implementation of iodine deficiency control policies should include a monitoring program aligned with the commitment of reducing the population salt intake.

Networking in education: From concept to action – An analytical view on the Educational Territories of Priority Intervention (TEIP) in Northern Portugal:

This article presents an analysis of school principals’ perspectives on networking concerning schools and school clusters from areas of social vulnerability (Educational Territories of Priority Intervention (TEIP)) in Northern Portugal. The meanings, purpose, benefits and difficulties of networking in education are examined, based on interviews with school principals. The concept of networking has a theoretical, conceptual and methodological organising function. The data show that networking, partnership and collaboration are used similarly when considering the work inside the school and between schools, as well as with the outside community. Networking is viewed as crucial for the school, and benefits are underlined both for the school and for students and teachers. The culture of isolation and individualism in teachers’ work is a challenge schools face. Although there is a wide recognition of the value of networking in education, there is an equally wide and diverse perspective on it as well as on strategies to implement it.

Growing Up in Europe’s Backyard: Researching on Education and Youth in Portuguese Poor Suburban Settings

Based on research in poor suburban settings during the last decade in Portugal this chapter explores some key trends, features and perspectives of Portuguese outcasts’ education. Firstly, the chapter describes the expansion and changes of poor suburban territories and their population, from its working-class and clandestine genesis to its multicultural, unemployed and publicly intervened current reality. Its relative closure due to a mix of multiple privations and stigmas is sketched. Secondly, the ambiguous relation of the Portuguese educational system with these territories and populations is analysed. Although, the considerable public investment during the last decades, based on the equal opportunities principle, has improved dramatically educational experiences and careers, a centralist, classist and selective educational culture was not abolished and it was actually reinforced during the last years, legitimized by economic shortage, neoliberal policies and conservative ideologies. With few exceptions, schools in these contexts combine a long-run lack of sensitivity to local contexts with new economic cuts and exclusion pressures, so many young people is still excluded, although they are now formally within the educational system. Thirdly, our chapter will reflect upon the new challenges for intervention when society is facing an economic and financial crisis. Fourthly, the chapter includes a discussion on how the public discourse is now focused on new excluded populations, eluding the traditional groups who remain immersed in poverty. Finally, the chapter emphasizes young people strategies to deal with processes of lowering expectations, trying to make sense of their precarious situation.

Growing Up in a Portuguese Borderland

The social sciences have paid little attention to peripheral regions and even less to children and young people’s productions in remote rural regions (O’Brien et al., 2000; Nairn, Panelli and McCormack, 2003). Nevertheless, border studies, especially in relationship to children and young people, is an emerging field of knowledge, specifically in anthropology and sociology (Ericsson and Simonsen, 2005, 2008; Helleiner, 2007, 2009; Aitken et al., 2011; Christou and Spyrou, 2012). In the Portuguese context, scholars have highlighted the sociological invisibility of children’s and young people’s perspectives living in remote areas (Portela et al., 2000; Portela and Gerry, 2003; Dornelas et al., 2010). This chapter is a response to this absence.

Disinheriting the Heritage and the Case of Pauliteiras

In an article entitled “La Mediterranee oubliee”, Jean-Francois Devret (2003) holds that there is a southern feeling of dissymmetry and even deception arising from growing contrasts in society and economy.