A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2

Key points: • Autosomal recessive primary microcephaly (MCPH) is a genetic disorder in which an affected subject is born with a head circumference >3 SD below the expected mean and is mentally retarded. • We report a novel locus (MCPH6) mapped to chromosome 13q12.2 in a Brazilian family. • The minimal critical region spans 6 Mb between markers AL139378GT17 and D13S1244 with a maximum two point lod score of 6.25

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

Presence of Perfluoroalkyl Substances in Landfill Adjacent Surface Waters in North Carolina

Landfills pose an important public health risk, especially in historically disenfranchised communities that are disproportionately sited for landfills and in rural areas where private wells may be impacted. Landfills are major sources of perfluoroalkyl substances (PFAS) that migrate into the surrounding environment. This study characterized PFAS in surface waters adjacent to two landfills, one in Sampson County (SC) and one in Orange County (OC) in North Carolina. In addition to municipal solid waste and construction and demolition waste, the landfill in SC accepts industrial sludge from a chemical plant that produces proprietary PFAS. Over four months, 35 surface water samples were collected at upstream, landfill-adjacent, and downstream/downgradient sites. Thirty-four PFAS were analyzed using liquid chromatography with tandem mass spectroscopy. Of those, six novel and six legacy PFAS were detected. Legacy PFAS were detected in surface water near both landfills, with the highest concentrations adjacent to the landfill. Novel PFAS were only detected in surface water near the SC landfill and showed the highest concentrations adjacent to the landfill, indicating offsite migration of PFAS. These findings support the need for more comprehensive and frequent monitoring of groundwater and surface water wells near landfills and stricter regulation regarding the landfilling of industrial materials

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum

Two brothers are reported with early onset progressive cerebellar ataxia, dystonia, spasticity, and intellectual decline. • Neuroradiology showed cerebellar atrophy and features compatible with iron deposition in the putamen (including the “eye of the tiger sign”) and substantia nigra. • Diagnosis was compatible with pantothenate kinase associated neuropathy resulting from pantothenate kinase 2 mutation (PKAN due to PANK2) but linkage to PNAK2 was eliminated suggesting Karak syndrome to be a novel disorder. • The “eye of the tiger” sign has previously only been reported to occur in PKAN due to PKAN

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

BACKGROUND AND OBJECTIVES: Locus heterogeneity is well established in autosomal recessive primary microcephaly (MCPH) and to date five loci have been mapped. However, the relative contributions of these loci have not been assessed and genotype-phenotype correlations have not been investigated. DESIGN: A study population of 56 consanguineous families resident in or originating from northern Pakistan was ascertained and assessed by the authors. A panel of microsatellite markers spanning each of the MCPH loci was designed, against which the families were genotyped. RESULTS: The head circumference of the 131 affected subjects ranged from 4 to 14 SD below the mean, but there was little intrafamilial variation among affecteds (± 1 SD). MCPH5 was the most prevalent, with 24/56 families consistent with linkage; 2/56 families were compatible with linkage to MCPH1, 10/56 to MCPH2, 2/56 to MCPH3, none to MCPH4, and 18/56 did not segregate with any of the loci. CONCLUSIONS: MCPH5 is the most common locus in this population. On clinical grounds alone, the phenotype of families linked to each MCPH locus could not be distinguished. We have also shown that further MCPH loci await discovery with a number of families as yet unlinked

The Variable X-ray and Near-IR Behavior of the Particularly Anomaloux X-ray Pulsar 1E 1048.1-5937

We present the results of X-ray and near-IR observations of the anomalous X-ray pulsar 1E 1048.1-5937, believed to be a magnetar. This AXP underwent a period of extreme variability during 2001-2004, but subsequently entered an extended and unexpected quiescence in 2004-2006, during which we monitored it with RXTE, CXO, and HST. Its timing properties were stable for >3 years throughout the quiescent period. 1E 1048.1-5937 again went into outburst in March 2007, which saw a factor of >7 total X-ray flux increase which was anti-correlated with a pulsed fraction decrease, and correlated with spectral hardening, among other effects. The near-IR counterpart also brightened following the 2007 event. We discuss our findings in the context of the magnetar and other models.Comment: 3 pages, 4 figures. To appear in the proceedings of the "40 Years of Pulsars: Millisecond Pulsars, Magnetars and More" conference, held 12-17 August 2007, in Montreal QC (AIP, in press, eds: C. Bassa, Z. Wang, A. Cumming, V. Kaspi

Quasi-classical Lie algebras and their contractions

After classifying indecomposable quasi-classical Lie algebras in low dimension, and showing the existence of non-reductive stable quasi-classical Lie algebras, we focus on the problem of obtaining sufficient conditions for a quasi-classical Lie algebras to be the contraction of another quasi-classical algebra. It is illustrated how this allows to recover the Yang-Mills equations of a contraction by a limiting process, and how the contractions of an algebra may generate a parameterized families of Lagrangians for pairwise non-isomorphic Lie algebras.Comment: 17 pages, 2 Table

A Behavioural Foundation for Natural Computing and a Programmability Test

What does it mean to claim that a physical or natural system computes? One answer, endorsed here, is that computing is about programming a system to behave in different ways. This paper offers an account of what it means for a physical system to compute based on this notion. It proposes a behavioural characterisation of computing in terms of a measure of programmability, which reflects a system's ability to react to external stimuli. The proposed measure of programmability is useful for classifying computers in terms of the apparent algorithmic complexity of their evolution in time. I make some specific proposals in this connection and discuss this approach in the context of other behavioural approaches, notably Turing's test of machine intelligence. I also anticipate possible objections and consider the applicability of these proposals to the task of relating abstract computation to nature-like computation.Comment: 37 pages, 4 figures. Based on an invited Talk at the Symposium on Natural/Unconventional Computing and its Philosophical Significance, Alan Turing World Congress 2012, Birmingham, UK. http://link.springer.com/article/10.1007/s13347-012-0095-2 Ref. glitch fixed in 2nd. version; Philosophy & Technology (special issue on History and Philosophy of Computing), Springer, 201

Expansions of algebras and superalgebras and some applications

After reviewing the three well-known methods to obtain Lie algebras and superalgebras from given ones, namely, contractions, deformations and extensions, we describe a fourth method recently introduced, the expansion of Lie (super)algebras. Expanded (super)algebras have, in general, larger dimensions than the original algebra, but also include the Inonu-Wigner and generalized IW contractions as a particular case. As an example of a physical application of expansions, we discuss the relation between the possible underlying gauge symmetry of eleven-dimensional supergravity and the superalgebra osp(1|32).Comment: Invited lecture delivered at the 'Deformations and Contractions in Mathematics and Physics Workshop', 15-21 January 2006, Mathematisches Forschungsinstitut Oberwolfach, German

Structural and dynamical properties of superfluid helium: a density functional approach

We present a novel density functional for liquid 4He, properly accounting for the static response function and the phonon-roton dispersion in the uniform liquid. The functional is used to study both structural and dynamical properties of superfluid helium in various geometries. The equilibrium properties of the free surface, droplets and films at zero temperature are calculated. Our predictions agree closely to the results of ab initio Monte Carlo calculations, when available. The introduction of a phenomenological velocity dependent interaction, which accounts for backflow effects, is discussed. The spectrum of the elementary excitations of the free surface and films is studied.Comment: 37 pages, REVTeX 3.0, figures on request at [email protected]