Low-carbon cows: From microbial metabolism to the symbiotic planet.

This article focuses on two projects - one at a large chemical company and the other at a small start-up - to intervene in the relations between cows and ruminal microbes to reduce bovine methane emissions. It describes these interventions as 'symbiotic engineering': a biopolitical technique targeting holobionts and becoming effective by working on interlaced sets of living things. Based on the analysis of these cases, the article elucidates a planetary symbiopolitics (Helmreich) that connects 'molecular biopolitics' (Rose) and 'microbiopolitics' (Paxson) to 'bovine biopolitics' (Lorimer, Driessen) and the politics of climate change. We critically investigate the spatial imaginaries of symbiotic engineering practices that single out the microbial realm as an Archimedean point to address planetary problems. This technoscientific vision resonates with the notion of the 'symbiotic planet' advanced by Lynn Margulis that depicts the Earth System, or Gaia, as a vast set of relations among living things down to the tiniest microbes. Margulis' concept, as well as the 'symbiotic view of life' (Gilbert, Scott, Sapp) has been embraced in recent debates in STS as a way to think of multispecies worldings. The article contributes critically to these debates by showing what happens when the topology of the symbiotic Earth becomes the operating space for symbiotic engineering practices.

Regulating epidemic space: the nomos of global circulation.

After the Severe Acute Respiratory Syndrome (SARS) outbreak in 2002, legal theorist David Fidler diagnosed the arrival of the 'first post-Westphalian pathogen'. The coinage indicates that the spread of infectious disease transforms the spatial coordinates of the modern political environment. This article analyses this transformation by asking how the legal regime, designed to prepare for the pandemic, envisions the globe as an object of government. It demonstrates that the WHO's International Health Regulations (IHR) articulate a space of global circulation that exhibits two features. First, the infrastructures of microbial traffic become the primary matters of concern. The IHR do not focus on human life so much as they aim at securing transnational mobilities. Second, the IHR circumscribe a space that is fragmented by zones of intensified governmental control at transportational nodal points, such as airports and harbours. In these zones, technologies of screening and quarantine are applied to modulate the connectivity of people, organic matter and things. As a whole, the article investigates how processes of de- and re-territorialisation interact in the context of global health security. In analysing forms of legal worldmaking, it unearths a nomos of global circulation which applies its regulatory force to the post-human materialities of microbial traffic.

Sonographic evaluation of pediatric localized scleroderma: preliminary disease assessment measures.

BACKGROUND: Our earlier work in the ultrasonograpy of localized scleroderma (LS) suggests that altered levels of echogenicity and vascularity can be associated with disease activity. Utrasound is clinically benign and readily available, but can be limited by operator dependence. We present our efforts to standardize image acquisition and interpretation of pediatric LS to better evaluate the correlation between specific sonographic findings and disease activity. METHODS: Several meetings have been held among our multi-center group (LOCUS) to work towards standardizing sonographic technique and image interpretation. Demonstration and experience in image acquisition were conducted at workshop meetings. Following meetings in 2007, an ultrasound measure was developed to standardize evaluation of differences in echogenicity and vascularity. Based upon our initial observations, we have labeled this an ultrasound disease activity measure. This preliminary measure was subsequently evaluated on over 180 scans of pediatric LS lesions. This review suggested that scoring levels should be expanded to better capture the range of observed differences. The revised levels and their definitions were formulated at a February 2009 workshop meeting. We have also developed assessments for scoring changes in tissue thickness and lesion size to better determine if these parameters aid evaluation of disease state. RESULTS: We have standardized our protocol for acquiring ultrasound images of pediatric LS lesions. A wide range of sonographic differences has been seen in the dermis, hypodermis, and deep tissue layers of active lesions. Preliminary ultrasound assessments have been generated. The disease activity measure scores for altered levels of echogenicity and vascularity in the lesion, and other assessments score for differences in lesion tissue layer thickness and changes in lesion size. CONCLUSIONS: We describe the range of sonographic differences found in pediatric LS, and present our efforts to standardize ultrasound acquisition and image interpretation for this disease. We present ultrasound measures that may aid evaluation of disease state. These assessments should be considered a work in progress, whose purpose is to facilitate further study in this area. More studies are needed to assess their validity and reliability.

Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.

Oculocutaneous albinism (OCA) in man may be caused by mutations within the tyrosinase gene (TYR) resulting in OCA1. Analysing patients with recessively inherited albinism we found DNA variations in 82 unrelated individuals. 53 out of 78 mutations and polymorphisms revealed by this study are not published previously. The changes include 68 nucleotide substitutions resulting in amino acid changes, stop mutations and polymorphisms as well as four nucleotide insertions and six deletions. Furthermore, we found an accumulation of three to five mutations in 17 patients with OCA1.

No association of the SCA1 (CAG)31 allele with Huntington's disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3.

Trinucleotide repeat expansions are the underlying mutation in several neurodegenerative and neuromuscular disorders including at least eight spinocerebellar ataxias (SCA). The molecular mechanisms of repeat expansion are as yet insufficiently understood. Recently, an association of the SCA1 (CAG)31 repeat allele with Huntington's disease and myotonic dystrophy type 1 was described. These findings implicate a possible role of the SCA1 (CAG)31 allele in other triplet diseases. We analyzed the SCA1 CAG repeat length in a large sample of Huntington's disease (n=182), myotonic dystrophy type 1 (n=64) and SCA3 (n=31) patients. In none of these groups was a significant association with the 31 repeat allele found. Our findings do not support the hypothesis that this allele is involved in the etiology of trinucleotide expansion.

Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.

Oculocutaneous albinism (OCA) is caused by a deficiency of melanin synthesis and characterized by generalized hypopigmentation of skin, hair, and eyes. Due to the hypopigmentation of the retinal pigment epithelium, OCA is usually associated with congenital visual impairment, in addition to an increased risk of skin cancer. OCA is a genetically heterogeneous disease with distinct types resulting from mutations in different genes involved in the pathway which results in pigmentation. OCA1 is associated with mutations in the TYR gene encoding tyrosinase. OCA2 results from mutations in the P gene encoding the P protein and is the most common form of OCA. OCA3, also known as rufous/red albinism, is caused by mutations in the TYRP1 gene, which encodes the tyrosinase-related protein 1. Recently, OCA4 was described as a new form of OCA in a single patient with a splice site mutation in the MATP gene (or AIM1), the human ortholog of the murine underwhite gene. The similarity of MATP to transporter proteins suggests its involvement in transport functions, although its actual substrate is still unclear. We screened 176 German patients with albinism for mutations within the MATP gene and identified five individuals with OCA4. In this first report on West European patients, we describe 10 so far unpublished mutations, as well as two intronic variations, in addition to two known polymorphisms.