Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis.

BACKGROUND: Deficiency in the enzyme β-mannosidase was described over three decades ago. Although rare in occurrence, the presentation of childhood-onset β-mannosidase deficiency consists of hypotonia in the newborn period followed by global development delay, behavior problems, and intellectual disability. No effective pharmacologic treatments have been available. METHODS: We report 2-year outcomes following the first umbilical cord blood transplant in a 4-year-old boy with early childhood-onset disease. RESULTS: We show restoration of leukocyte β-mannosidase activity which remained normal at 2 years posttransplant, and a simultaneous increase in plasma β-mannosidase activity and dramatic decrease in urine-free oligosaccharides were also observed. MRI of the brain remained stable. Neurocognitive evaluation revealed test point gains, although the magnitude of improvement was less than expected for age, causing lower IQ scores that represent a wider developmental gap between the patient and unaffected peers. CONCLUSION: Our findings suggest that hematopoietic cell transplant can correct the biochemical defect in β-mannosidosis, although preservation of the neurocognitive trajectory may be a challenge

The effects of injection of bovine vaccine into a human digit: a case report

BACKGROUND: The incidence of needlestick injuries in farmers and veterinary surgeons is significant and the consequences of such an injection can be serious. CASE PRESENTATION: We report accidental injection of bovine vaccine into the base of the little finger. This resulted in increased pressure in the flexor sheath causing signs and symptoms of ischemia. Amputation of the digit was required despite repeated surgical debridement and decompression. CONCLUSION: There have been previous reports of injection of oil-based vaccines into the human hand resulting in granulomatous inflammation or sterile abscess and causing morbidity and tissue loss. Self-injection with veterinary vaccines is an occupational hazard for farmers and veterinary surgeons. Injection of vaccine into a closed compartment such as the human finger can have serious sequelae including loss of the injected digit. These injuries are not to be underestimated. Early debridement and irrigation of the injected area with decompression is likely to give the best outcome. Frequent review is necessary after the first procedure because repeat operations may be required

Fractal curvature measures and Minkowski content for one-dimensional self-conformal sets

We show that the fractal curvature measures of invariant sets of one-dimensional conformal iterated function systems satisfying the open set condition exist, if and only if the associated geometric potential function is nonlattice. Moreover, in the nonlattice situation we obtain that the Minkowski content exists and prove that the fractal curvature measures are constant multiples of the $\delta$-conformal measure, where $\delta$ denotes the Minkowski dimension of the invariant set. For the first fractal curvature measure, this constant factor coincides with the Minkowski content of the invariant set. In the lattice situation we give sufficient conditions for the Minkowski content of the invariant set to exist, contrasting the fact that the Minkowski content of a self-similar lattice fractal never exists. However, every self-similar set satisfying the open set condition exhibits a Minkowski measurable $\mathcal{C}^{1+\alpha}$ diffeomorphic image. Both in the lattice and nonlattice situation average versions of the fractal curvature measures are shown to always exist.Comment: 36 page

Radon--Nikodym representations of Cuntz--Krieger algebras and Lyapunov spectra for KMS states

We study relations between $(H,\beta)$--KMS states on Cuntz--Krieger algebras and the dual of the Perron--Frobenius operator $\mathcal{L}_{-\beta H}^{*}$. Generalising the well--studied purely hyperbolic situation, we obtain under mild conditions that for an expansive dynamical system there is a one--one correspondence between $(H,\beta)$--KMS states and eigenmeasures of $\mathcal{L}_{-\beta H}^{*}$ for the eigenvalue 1. We then consider representations of Cuntz--Krieger algebras which are induced by Markov fibred systems, and show that if the associated incidence matrix is irreducible then these are $\ast$--isomorphic to the given Cuntz--Krieger algebra. Finally, we apply these general results to study multifractal decompositions of limit sets of essentially free Kleinian groups $G$ which may have parabolic elements. We show that for the Cuntz--Krieger algebra arising from $G$ there exists an analytic family of KMS states induced by the Lyapunov spectrum of the analogue of the Bowen--Series map associated with $G$. Furthermore, we obtain a formula for the Hausdorff dimensions of the restrictions of these KMS states to the set of continuous functions on the limit set of $G$. If $G$ has no parabolic elements, then this formula can be interpreted as the singularity spectrum of the measure of maximal entropy associated with $G$.Comment: 30 pages, minor changes in the proofs of Theorem 3.9 and Fact

Application of a three-dimensional color laser scanner to paleontology: An interactive model of a juvenile Tylosaurus SP. Basisphenoid-basioccipital

Three-dimensional (3D) modeling has always been an important part of paleontological research and interpretation though digital reproductions of fossils are a recent phenomena. A highly accurate, interactive, 100 μm resolution, 3D, digital model of a fossilized basisphenoid-basioccipital from a juvenile Tylosaurus sp. mosasaur was generated using a 3D laser scanner and manipulated using VRML and InnovMetric polygon files. This 3D model supports varying levels of magnification depending on the initial scan resolution and the amount of post-production polygon reduction. The generation of these 3D models is relatively simple because the software and technology for their generation is relatively mature. At present, complex 3D models require powerful computers in order to manipulate their computer graphic substructures. But, as computer technology improves, digital 3D scanning could prove invaluable for creating and sharing virtual copies of fossil material. Primary results of this study indicate that for most paleontological applications a 100μm scan resolution is acceptable. Copyright: Society for Vertebrate Paleontology, 15 November 2000

On the well-posedness of the stochastic Allen-Cahn equation in two dimensions

White noise-driven nonlinear stochastic partial differential equations (SPDEs) of parabolic type are frequently used to model physical and biological systems in space dimensions d = 1,2,3. Whereas existence and uniqueness of weak solutions to these equations are well established in one dimension, the situation is different for d \geq 2. Despite their popularity in the applied sciences, higher dimensional versions of these SPDE models are generally assumed to be ill-posed by the mathematics community. We study this discrepancy on the specific example of the two dimensional Allen-Cahn equation driven by additive white noise. Since it is unclear how to define the notion of a weak solution to this equation, we regularize the noise and introduce a family of approximations. Based on heuristic arguments and numerical experiments, we conjecture that these approximations exhibit divergent behavior in the continuum limit. The results strongly suggest that a series of published numerical studies are problematic: shrinking the mesh size in these simulations does not lead to the recovery of a physically meaningful limit.Comment: 21 pages, 4 figures; accepted by Journal of Computational Physics (Dec 2011

Superhumps in Cataclysmic Binaries. XXV. q_crit, epsilon(q), and Mass-Radius

We report on successes and failures in searching for positive superhumps in cataclysmic variables, and show the superhumping fraction as a function of orbital period. Basically, all short-period systems do, all long-period systems don't, and a 50% success rate is found at P_orb=3.1+-0.2 hr. We can use this to measure the critical mass ratio for the creation of superhumps. With a mass-radius relation appropriate for cataclysmic variables, and an assumed mean white-dwarf mass of 0.75 M_sol, we find a mass ratio q_crit=0.35+-0.02. We also report superhump studies of several stars of independently known mass ratio: OU Virginis, XZ Eridani, UU Aquarii, and KV UMa (= XTE J1118+480). The latter two are of special interest, because they represent the most extreme mass ratios for which accurate superhump measurements have been made. We use these to improve the epsilon(q) calibration, by which we can infer the elusive q from the easy-to-measure epsilon (the fractional period excess of P_superhump over P_orb). This relation allows mass and radius estimates for the secondary star in any CV showing superhumps. The consequent mass-radius law shows an apparent discontinuity in radius near 0.2 M_sol, as predicted by the disrupted magnetic braking model for the 2.1-2.7 hour period gap. This is effectively the "empirical main sequence" for CV secondaries.Comment: PDF, 45 pages, 9 tables, 12 figures; accepted, in press, to appear November 2005, PASP; more info at http://cba.phys.columbia.edu