Showing papers by "Mark David McGregor Davis published in 2011"

MFN2 mutations cause severe phenotypes in most patients with CMT2A

Abstract: Background: Charcot-Marie-Tooth disease type 2A (CMT2A), the most common form of CMT2, is caused by mutations in the mitofusin 2 gene ( MFN2 ), a nuclear encoded gene essential for mitochondrial fusion and tethering the endoplasmic reticulum to mitochondria. Published CMT2A phenotypes have differed widely in severity. Methods: To determine the prevalence and phenotypes of CMT2A within our clinics we performed genetic testing on 99 patients with CMT2 evaluated at Wayne State University in Detroit and on 27 patients with CMT2 evaluated in the National Hospital for Neurology and Neurosurgery in London. We then preformed a cross-sectional analysis on our patients with CMT2A. Results: Twenty-one percent of patients had MFN2 mutations. Most of 27 patients evaluated with CMT2A had an earlier onset and more severe impairment than patients without CMT2A. CMT2A accounted for 91% of all our severely impaired patients with CMT2 but only 11% of mildly or moderately impaired patients. Twenty-three of 27 patients with CMT2A were nonambulatory prior to age 20 whereas just one of 78 non-CMT2A patients was nonambulatory after this age. Eleven patients with CMT2A had a pure motor neuropathy while another 5 also had profound proprioception loss. MFN2 mutations were in the GTPase domain, the coiled-coil domains, or the highly conserved R3 domain of the protein. Conclusions: We find MFN2 mutations particularly likely to cause severe neuropathy that may be primarily motor or motor accompanied by prominent proprioception loss. Disruption of functional domains of the protein was particularly likely to cause neuropathy.

Biomedicalization: technoscience, health, and illness in the US

Abstract: I enjoyed reviewing this large and varied collection of chapters edited by Clarke, Mamo, Fosket, Fishman and Shim. The volume is styled as a major contribution to research and debate concerning the biomedical dimensions of contemporary life. Restricted to analysis and case studies from the USA, as the title of the volume indicates, the overall argument is nevertheless well situated in international literature on biomedicalisation, biopolitics and related concerns. The volume therefore provides both insight into biomedical practice in the USA and takes up themes of interest to those working outside that nation. The volume is structured so as to include: preliminary chapters on conceptual foundations; a section on ‘social differences’; a section on ‘enhancement’; and a final chapter drawing together the threads of the argument and situating these in what is called a ‘transnational’ perspective on future biomedicalisation studies. The volume is unified by a conceptual framing of biomedicalisation that is traced back to the early-2000s writing of the editors. Biomedicalisation is said to be distinct from the more commonly used term medicalisation which, crudely, refers to the colonisation of the social by forms of medical authority, therefore expanding the power of those able to command medical expertise (doctors) over those who are not (patients). As noted in the volume, Conrad’s famous example of medicalisation is the labelling of overactivity in children as hyperkinesis and then ADHD. For the editors and contributors to this volume however, medicalisation, while remaining relevant, does not adequately capture what is presently happening to and through biomedicine, in the USA at least. For example, what we take to be biomedical health care is subject to: doubts regarding medical authority; the winding back of social welfare; the rise of neo-liberal modes of subjectivity; managerialism; evidence-based medicine; the risk management orientation of modern systems of health care; the application of genetic explanations to disease aetiology and treatment; increasing reliance on technological means of intervention; self-surveillance; processes of privatisation; and marketisation of health care products – and the list goes on. Biomedicalisation therefore is used quite specifically in this volume to mean the latetwentieth and early-twenty-first century intensification of technoscientific approaches to biomedical care and related implications for embodiment, subjectivity and experience. Drawing on Haraway, they name the social ‘institution’ that biomedicalisation gives rise to as the ‘Biomedical TechnoService Complex Inc.’. The staging of the book and its case studies are clearly aligned with this conceptual framing, at times supporting it, at other times profiting by questioning and building on it. The volume has a preliminary chapter on gender and, as noted, a section devoted to social differences concerning gender, class, race and culture in articulation with biomedicalisation. Many will recognise that giving emphasis to these concerns is an extremely important contribution. We now have extensive literature on health framed by

Love and HIV serodiscordance in gay men's accounts of life with their regular partners

Abstract: This paper examines discourse on serodiscordant relationships in interviews with 16 HIV-positive and 3 HIV-negative gay men living in Scotland. Drawing on critiques concerning love, reason and HIV serostatus normativity, this paper supplies a much-needed insight into how gay men in serodiscordant relationships negotiate HIV prevention. Among other matters, some HIV-negative men were said to knowingly request risky sex with their HIV-positive partners as an expression of love. In some situations, the person without HIV claimed a normative serostatus that implied they could ‘invest’ more in the relationship by offering to have sexual intercourse that may expose them to HIV. Such dynamics expressed devotion on the part of the HIV-negative man, but implied obligation for the HIV-positive man. Based on these and other perspectives we argue for closer attention to gay men's subjectivity in the present circumstances of proliferating biomedical forms of HIV prevention; more thoroughly reflexive public health enga...

‘You have to come into the world’: Transition, Emotion and Being in Narratives of Life with the Internet

Abstract: This paper explores the relation between internet technologies and social change with reference to the narratives of ordinary internet-users living in Melbourne, Australia. The argument developed here draws attention to the interviewee's imaginaries of being-in-the-world under internet-related change; imaginaries which are, at times, marked by a language of emotional and bodily transition. This framing of life with the internet suggests that its technologies are not merely the means by which people gain access to information, advice, services and social interaction; they appear to mobilise questions of being and at the same time offer themselves as the means for establishing ‘beingness’, to borrow a term from Valerie Walkerdine (2010). This emphasis on being in accounts of internet-related change also suggests the exercise of narrative subjectification through internet technologies or, in other terms, the internet-related ‘technologisation’ of narrative practices.

Advancing biosocial pedagogy for HIV education

Abstract: This article develops the concept of biosocial pedagogy in HIV education for this era of expanding biomedical forms of HIV control. With reference to critical pedagogy and teaching and learning materials addressing HIV treatment and prevention, I explain how HIV education can problematize its own role in HIV control. I also discuss how educational practice can be informed by the ethical and political dilemmas that face people affected by HIV. I argue that through biosocially aware HIV pedagogy, individuals and communities can be assisted to act on the opportunities and drawbacks of biomedical HIV control.