7,834 research outputs found
Imaging and CSF analyses effectively distinguish CJD from its mimics
OBJECTIVE: To review clinical and investigation findings in patients referred to a specialist prion clinic who were suspected to have sporadic Creutzfeldt-Jakob disease (sCJD) and yet were found to have an alternative final diagnosis. METHODS: Review the clinical findings and investigations in 214 patients enrolled into the UK National Prion Monitoring Cohort Study between October 2008 and November 2015 who had postmortem confirmed sCJD and compare these features with 50 patients referred over the same period who had an alternative final diagnosis (CJD mimics). RESULTS: Patients with an alternative diagnosis and those with sCJD were of similar age, sex and frequency of dementia but CJD mimics had a longer clinical history. Myoclonus, rigidity and hallucinations were more frequent in patients with sCJD but these features were not helpful in classifying individual patients. Alzheimer's disease, dementia with Lewy bodies and genetic neurodegenerative disorders were alternative diagnoses in more than half of the CJD mimic cases, and 10% had an immune-mediated encephalopathy; lymphoma, hepatic encephalopathy and progressive multifocal leukoencephalopathy were seen more than once. Diffusion-weighted MRI was the most useful readily available test to classify cases correctly (92% CJD, 2% CJD mimics). The CSF cell count, 14-3-3 protein detection and S100B were of limited value. A positive CSF RT-QuIC test, introduced during the course of the study, was found in 89% of tested CJD cases and 0% CJD mimics. CONCLUSION: The combination of diffusion-weighted MRI analysis and CSF RT-QuIC allowed a perfect classification of sCJD versus its mimics in this study
Elementary Quantum Mechanics in a Space-time Lattice
Studies of quantum fields and gravity suggest the existence of a minimal
length, such as Planck length \cite{Floratos,Kempf}. It is natural to ask how
the existence of a minimal length may modify the results in elementary quantum
mechanics (QM) problems familiar to us \cite{Gasiorowicz}. In this paper we
address a simple problem from elementary non-relativistic quantum mechanics,
called "particle in a box", where the usual continuum (1+1)-space-time is
supplanted by a space-time lattice. Our lattice consists of a grid of
rectangles, where , the lattice
parameter, is a fundamental length (say Planck length) and, we take to
be equal to . The corresponding Schrodinger equation becomes a
difference equation, the solution of which yields the -eigenfunctions and
-eigenvalues of the energy operator as a function of . The
-eigenfunctions form an orthonormal set and both -eigenfunctions and
-eigenvalues reduce to continuum solutions as
The corrections to eigenvalues because of the assumed lattice is shown to be
We then compute the uncertainties in position and momentum,
for the box problem and study the consequent modification
of Heisenberg uncertainty relation due to the assumption of space-time lattice,
in contrast to modifications suggested by other investigations such as
\cite{Floratos}
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Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series
The largest kindred with inherited prion disease P102L, historically Gerstmann-Sträussler-Scheinker syndrome, originates from central England, with émigrés now resident in various parts of the English-speaking world. We have collected data from 84 patients in the large UK kindred and numerous small unrelated pedigrees to investigate phenotypic heterogeneity and modifying factors. This collection represents by far the largest series of P102L patients so far reported. Microsatellite and genealogical analyses of eight separate European kindreds support multiple distinct mutational events at a cytosine-phosphate diester-guanidine dinucleotide mutation hot spot. All of the smaller P102L kindreds were linked to polymorphic human prion protein gene codon 129M and were not connected by genealogy or microsatellite haplotype background to the large kindred or each other. While many present with classical Gerstmann-Sträussler-Scheinker syndrome, a slowly progressive cerebellar ataxia with later onset cognitive impairment, there is remarkable heterogeneity. A subset of patients present with prominent cognitive and psychiatric features and some have met diagnostic criteria for sporadic Creutzfeldt-Jakob disease. We show that polymorphic human prion protein gene codon 129 modifies age at onset: the earliest eight clinical onsets were all MM homozygotes and overall age at onset was 7 years earlier for MM compared with MV heterozygotes (P = 0.02). Unexpectedly, apolipoprotein E4 carriers have a delayed age of onset by 10 years (P = 0.02). We found a preponderance of female patients compared with males (54 females versus 30 males, P = 0.01), which probably relates to ascertainment bias. However, these modifiers had no impact on a semi-quantitative pathological phenotype in 10 autopsied patients. These data allow an appreciation of the range of clinical phenotype, modern imaging and molecular investigation and should inform genetic counselling of at-risk individuals, with the identification of two genetic modifiers
DFR Perturbative Quantum Field theory on Quantum Space Time, and Wick Reduction
We discuss the perturbative approach a` la Dyson to a quantum field theory
with nonlocal self-interaction :phi*...*phi:, according to Doplicher,
Fredenhagen and Roberts (DFR). In particular, we show that the Wick reduction
of non locally time--ordered products of Wick monomials can be performed as
usual, and we discuss a very simple Dyson diagram.Comment: 15 pages, pdf has active hyperlinks. To appear in the proceedings of
the conference on "Rigorous quantum Field Theory", held at Saclay on July
19-21, 2004, on the occasion of Jacques Bros' 70th birthda
Born-Oppenheimer Approximation near Level Crossing
We consider the Born-Oppenheimer problem near conical intersection in two
dimensions. For energies close to the crossing energy we describe the wave
function near an isotropic crossing and show that it is related to generalized
hypergeometric functions 0F3. This function is to a conical intersection what
the Airy function is to a classical turning point. As an application we
calculate the anomalous Zeeman shift of vibrational levels near a crossing.Comment: 8 pages, 1 figure, Lette
Faking like a woman? Towards an interpretative theorization of sexual pleasure.
This article explores the possibility of developing a feminist approach to gendered and sexual embodiment which is rooted in the pragmatist/interactionist tradition derived from G.H. Mead, but which in turn develops this perspective by inflecting it through more recent feminist thinking. In so doing we seek to rebalance some of the rather abstract work on gender and embodiment by focusing on an instance of 'heterosexual' everyday/night life - the production of the female orgasm. Through engaging with feminist and interactionist work, we develop an approach to embodied sexual pleasure that emphasizes the sociality of sexual practices and of reflexive sexual selves. We argue that sexual practices and experiences must be understood in social context, taking account of the situatedness of sex as well as wider socio-cultural processes the production of sexual desire and sexual pleasure (or their non-production) always entails interpretive, interactional processes
The regulated four parameter one dimensional point interaction
The general four parameter point interaction in one dimensional quantum
mechanics is regulated. It allows the exact solution, but not the perturbative
one. We conjecture that this is due to the interaction not being asymptotically
free. We then propose a different breakup of unperturbed theory and
interaction, which now is asymptotically free but leads to the same physics.
The corresponding regulated potential can be solved both exactly and
perturbatively, in agreement with the conjecture.Comment: 17 pages, no figures, Tex fil
Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease
Background: Inherited prion diseases are rare autosomal dominant disorders associated with diverse clinical presentations. All are associated with mutation of the gene that encodes prion protein (PRNP). Homozygous mutations with atypical clinical phenotypes have been described but are extremely rare.
Case presentation: A Chinese patient presented with a rapidly progressive cognitive and motor disorder in the clinical spectrum of sCJD. Investigations strongly suggested a diagnosis of CJD. He was found to carry a homozygous mutation at PRNP codon 200 (E200D), but there was no known family history of the disorder. The estimated allele frequency of E200D in East Asian populations is incompatible with it being a highly penetrant mutation in the heterozygous state.
Conclusion: In our view the homozygous PRNP E200D genotype is likely to be causal of CJD in this patient. Homotypic PrP interactions are well known to favour the development of prion disease. The case is compatible with recessively inherited prion disease
The Born Oppenheimer wave function near level crossing
The standard Born Oppenheimer theory does not give an accurate description of
the wave function near points of level crossing. We give such a description
near an isotropic conic crossing, for energies close to the crossing energy.
This leads to the study of two coupled second order ordinary differential
equations whose solution is described in terms of the generalized
hypergeometric functions of the kind 0F3(;a,b,c;z). We find that, at low
angular momenta, the mixing due to crossing is surprisingly large, scaling like
\mu^(1/6), where \mu is the electron to nuclear mass ratio.Comment: 21 pages, 7 figure
Renormalization in Nonrelativistic Quantum Mechanics
The importance and usefulness of renormalization are emphasized in
nonrelativistic quantum mechanics. The momentum space treatment of both
two-body bound state and scattering problems involving some potentials singular
at the origin exhibits ultraviolet divergence. The use of renormalization
techniques in these problems leads to finite converged results for both the
exact and perturbative solutions. The renormalization procedure is carried out
for the quantum two-body problem in different partial waves for a minimal
potential possessing only the threshold behavior and no form factors. The
renormalized perturbative and exact solutions for this problem are found to be
consistent with each other. The useful role of the renormalization group
equations for this problem is also pointed out.Comment: 16 page
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