Active management in Serious Genetic Disorders

Twenty years ago we were taught to classify the cause of any medical condition into those that were 'genetic' and those that were 'acquired'.  Subsequently the acquired group could be subdivided according to aetiology. Either directly or by implication we were told that genetic disorders were untreatable and that they were always rare, making up an insignificant proportion of medical practice. This article gives a personal view of the field of medical genetics and is based on two established facts, firstly that genetic diseases are now so frequent that every doctor should be conversant with basic genetic principles. Secondly many genetic conditions if not amenable to curative treatment, are at least responsive to careful management which can prolong and increase the quality of life. At this stage we should emphasise one other aspect, which concerns the philosophy behind genetic counselling. Such counselling is not just the calculation of empiric or theoretical risks that a disease will recur, followed by telling the family and then leaving them to come to terms with unpleasant probabilities. In genetic counselling the range of options open to different members of a family can be fully explained in the light of their risks. At the same time counselling of a wider nature can be offered providing emotional support to many members of the family. By allowing individuals within a family to come to terms with the emotional aspects of an inherited condition, counselling, not necessarily provided by a genetic counsellor alone can be actively therapeutic. Let us now select some severe disorders with a major genetic component and examine the therapeutic approaches available

The Status of Antibiotics

From a dissertation read before the Royal Medical Society on Friday, 1st November, 1963.Many attribute the earliest recognition of an antibiotic effect to Sir Alexander Fleming. However, in 1877, 50 years before Fleming’s discovery, Pasteur and Joubert described the phenomenon of bacterial antagonism; the process whereby the growth of certain species is inhibited in the presence of others. In the particular case of the anthrax bacillus they found that growth was inhibited in cultures contaminated with ‘common bacteria’ (those types now known as the Enterobacteriaciae). Shortly afterwards the term “antibiosis” was introduced for such antagonism

NS Fivebrane and Tachyon Condensation

We argue that a semi-infinite D6-brane ending on an NS5-brane can be obtained from the condensation of the tachyon on the unstable D9-brane of type IIA theory. The construction uses a combination of the descriptions of these branes as solitons of the worldvolume theory of the D9-brane. The NS5-brane, in particular, involves a gauge bundle which is operator valued, and hence is better thought of as a gerbe.Comment: 20 pages, harvma

Gut dysfunction in patients with multiple sclerosis and the role of spinal cord involvement in the disease.

Bowel and bladder symptoms are highly prevalent in patients with multiple sclerosis (MS). Bladder dysfunction (affecting 75% of these patients) is caused by disease in the spinal cord, whilst the pathophysiology of bowel dysfunction is unknown. Pathways regulating both the organs lie in close proximity to the spinal cord, and coexistence of their dysfunction might be the result of a common pathophysiology. If so, the prevalence of bladder symptoms should be greater in patients with MS and bowel symptoms. This hypothesis is tested in the study. We also evaluated how patient-reported symptoms quantify bowel dysfunction

Strong Shift Equivalence of C∗C^*-correspondences

We define a notion of strong shift equivalence for $C^*$-correspondences and show that strong shift equivalent $C^*$-correspondences have strongly Morita equivalent Cuntz-Pimsner algebras. Our analysis extends the fact that strong shift equivalent square matrices with non-negative integer entries give stably isomorphic Cuntz-Krieger algebras.Comment: 26 pages. Final version to appear in Israel Journal of Mathematic

Isometric Representations of Totally Ordered Semigroups

Let S be a subsemigroup of an abelian torsion-free group G. If S is a positive cone of G, then all C*-algebras generated by faithful isometrical non-unitary representations of S are canonically isomorphic. Proved by Murphy, this statement generalized the well-known theorems of Coburn and Douglas. In this note we prove the reverse. If all C*-algebras generated by faithful isometrical non-unitary representations of S are canonically isomorphic, then S is a positive cone of G. Also we consider G = Z\times Z and prove that if S induces total order on G, then there exist at least two unitarily not equivalent irreducible isometrical representation of S. And if the order is lexicographical-product order, then all such representations are unitarily equivalent.Comment: February 21, 2012. Kazan, Russi

Twisted k-graph algebras associated to Bratteli diagrams

Given a system of coverings of k-graphs, we show that the cohomology of the resulting (k+1)-graph is isomorphic to that of any one of the k-graphs in the system. We then consider Bratteli diagrams of 2-graphs whose twisted C*-algebras are matrix algebras over noncommutative tori. For such systems we calculate the ordered K-theory and the gauge-invariant semifinite traces of the resulting 3-graph C*-algebras. We deduce that every simple C*-algebra of this form is Morita equivalent to the C*-algebra of a rank-2 Bratteli diagram in the sense of Pask-Raeburn-R{\o}rdam-Sims.Comment: 28 pages, pictures prepared using tik

Magnetotransport properties of iron microwires fabricated by focused electron beam induced autocatalytic growth

We have prepared iron microwires in a combination of focused electron beam induced deposition (FEBID) and autocatalytic growth from the iron pentacarbonyl, Fe(CO)5, precursor gas under UHV conditions. The electrical transport properties of the microwires were investigated and it was found that the temperature dependence of the longitudinal resistivity (rhoxx) shows a typical metallic behaviour with a room temperature value of about 88 micro{\Omega} cm. In order to investigate the magnetotransport properties we have measured the isothermal Hall-resistivities in the range between 4.2 K and 260 K. From these measurements positive values for the ordinary and the anomalous Hall coefficients were derived. The relation between anomalous Hall resistivity (rhoAN) and longitudinal resistivity is quadratic, rhoAN rho^2 xx, revealing an intrinsic origin of the anomalous Hall effect. Finally, at low temperature in the transversal geometry a negative magnetoresistance of about 0.2 % was measured

Homology and K--Theory Methods for Classes of Branes Wrapping Nontrivial Cycles

We apply some methods of homology and K-theory to special classes of branes wrapping homologically nontrivial cycles. We treat the classification of four-geometries in terms of compact stabilizers (by analogy with Thurston's classification of three-geometries) and derive the K-amenability of Lie groups associated with locally symmetric spaces listed in this case. More complicated examples of T-duality and topology change from fluxes are also considered. We analyse D-branes and fluxes in type II string theory on ${\mathbb C}P^3\times \Sigma_g \times {\mathbb T}^2$ with torsion $H-$flux and demonstrate in details the conjectured T-duality to ${\mathbb R}P^7\times X^3$ with no flux. In the simple case of $X^3 = {\mathbb T}^3$, T-dualizing the circles reduces to duality between ${\mathbb C}P^3\times {\mathbb T}^2 \times {\mathbb T}^2$ with $H-$flux and ${\mathbb R}P^7\times {\mathbb T}^3$ with no flux.Comment: 27 pages, tex file, no figure