Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

Kufor-Rakeb syndrome is an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration. The onset is in the teenage years with clinical features of Parkinson’s disease plus spasticity, supranuclear upgaze paresis, and dementia. Brain scans show atrophy of the globus pallidus and pyramids and, later, widespread cerebral atrophy. We report linkage in Kufor- Rakeb syndrome to a 9 cM region of chromosome 1p36 delineated by the markers D1S436 and D1S2843, with a maximum multipoint lod score of 3.6. (J Med Genet 2001;38:680–682

A contribution to the conceptualisation of quality in impact assessment

Quality is much sought after in, and a basic foundation for, good impact assessment (IA). However, the term is rarely defined, has an uncertain relationship with IA effectiveness, and it means different things to different stakeholders, which can lead to debates over the legitimacy associated with an IA process. Thus, IA quality needs conceptualising to position research and practice within broader understandings. This paper contributes to this conceptualisation by identifying nine dimensions of quality through a process of literature review drawing on three fields of study in which quality and quality management have already been debated and conceptualised: education; health care; and business. This approach sidesteps the plural views on quality existing within the field of IA itself which might otherwise bias the identification of quality dimensions. We therefore propose that the dimensions of IA quality are: Efficiency; Optimacy; Conformance; Legitimacy; Equity; Capacity Maintenance; Transformative Capacity; and Quality Management. A literature review of IA research and practice confirms the relevance of the identified quality dimensions to IA. We identify, to an extent, the relationship between quality and effectiveness. Quality aligns with procedural and transactive effectiveness, partly aligns with normative effectiveness and is distinct from, but helps to deliver, substantive effectiveness

Ellipticity in Cosmic Microwave Background as a Tracer of Large-Scale Universe

Wilkinson Microwave Anisotropy Probe (WMAP) 3-year data confirm the ellipticity of anisotropies of Cosmic Microwave Background (CMB) maps, found previously for Boomerang and WMAP 1-year high sensitivity maps. The low noise level of the WMAP latter data enable also to show that, the ellipticity is a property not described by the conventional cosmological model fitting the power spectrum of CMB. As a large scale anomaly, the ellipticity characteristics are consistent with the effect of geodesics mixing occurring in hyperbolic Universe. Its relation to other large scale effects, i.e. to suppressed low multipoles, as well as to dark energy if the latter is due to vacuum fluctuations, is then an arising issue.Comment: to appear in Phys. Lett.

Important marine areas for the conservation of northern rockhopper penguins within the Tristan da Cunha Exclusive Economic Zone

The designation of Marine Protected Areas has become an important approach to conserving marine ecosystems that relies on robust information on the spatial distribution of biodiversity. We used GPS tracking data to identify marine Important Bird and Biodiversity Areas (IBAs) for the endangered northern rockhopper penguin Eudyptes moseleyi within the Exclusive Economic Zone (EEZ) of Tristan da Cunha in the South Atlantic. Penguins were tracked throughout their breeding season from 3 of the 4 main islands in the Tristan da Cunha group. Foraging trips remained largely within the EEZ, with the exception of those from Gough Island during the incubation stage. We found substantial variability in trip duration and foraging range among breeding stages and islands, consistent use of areas among years and spatial segregation of the areas used by neighbouring islands. For colonies with no or insufficient tracking data, we defined marine IBAs based on the mean maximum foraging range and merged the areas identified to propose IBAs around the Tristan da Cunha archipelago and Gough Island. The 2 proposed marine IBAs encompass 2% of Tristan da Cunha’s EEZ, and are used by all northern rockhopper penguins breeding in the Tristan da Cunha group, representing ~90% of the global population. Currently, the main threat to northern rockhopper penguins within the Tristan da Cunha EEZ is marine pollution from shipping, and the risk of this would be reduced by declaring waters within 50 nautical miles of the coast as ‘Areas To Be Avoided

A First Search for coincident Gravitational Waves and High Energy Neutrinos using LIGO, Virgo and ANTARES data from 2007

We present the results of the first search for gravitational wave bursts associated with high energy neutrinos. Together, these messengers could reveal new, hidden sources that are not observed by conventional photon astronomy, particularly at high energy. Our search uses neutrinos detected by the underwater neutrino telescope ANTARES in its 5 line configuration during the period January - September 2007, which coincided with the fifth and first science runs of LIGO and Virgo, respectively. The LIGO-Virgo data were analysed for candidate gravitational-wave signals coincident in time and direction with the neutrino events. No significant coincident events were observed. We place limits on the density of joint high energy neutrino - gravitational wave emission events in the local universe, and compare them with densities of merger and core-collapse events.Comment: 19 pages, 8 figures, science summary page at http://www.ligo.org/science/Publication-S5LV_ANTARES/index.php. Public access area to figures, tables at https://dcc.ligo.org/cgi-bin/DocDB/ShowDocument?docid=p120000