Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis?

Background: Gaucher disease (GD) and primary myelofibrosis (PMF) share similar clinical and laboratory features, such as cytopenia, hepatosplenomegaly, and marrow fibrosis, often resulting in a misdiagnosis. Case Report: We report here the case of a young woman with hepatosplenomegaly, leukopenia, and thrombocytopenia. Based on bone marrow (BM) findings and on liver biopsy showing extramedullary hematopoiesis, an initial diagnosis of PMF was formulated. The patient refused stem cell transplantation from an HLA-identical sibling. Low-dose melphalan was given, without any improvement. Two years later, a BM evaluation showed Gaucher cells. Low glucocerebrosidase and high chitotriosidase levels were indicative for GD. Molecular analysis revealed N370S/complex I mutations. Enzyme replacement therapy with imiglucerase was commenced, resulting in clinical and hematological improvements. Due to an unexpected and persistent organomegaly, PMF combined with GD were suspected. JAK2V617F, JAK2 exon 12, MPL, calreticulin, and exon 9 mutations were negative, and BM examination showed no marrow fibrosis. PMF was excluded. Twenty years after starting treatment, the peripheral cell count and liver size were normal, whereas splenomegaly persisted. Conclusion: In order to avoid a misdiagnosis, a diagnostic algorithm for patients with hepatosplenomegaly combined with cytopenia is suggested

Effective Transport Template for Particle Separation in Microfluidic Bumper Arrays

This paper was presented at the 4th Micro and Nano Flows Conference (MNF2014), which was held at University College, London, UK. The conference was organised by Brunel University and supported by the Italian Union of Thermofluiddynamics, IPEM, the Process Intensification Network, the Institution of Mechanical Engineers, the Heat Transfer Society, HEXAG - the Heat Exchange Action Group, and the Energy Institute, ASME Press, LCN London Centre for Nanotechnology, UCL University College London, UCL Engineering, the International NanoScience Community, www.nanopaprika.eu.Microfluidic bumper arrays are increasingly being used for the size-based sorting of particle suspensions. The separation mechanism is based on the interaction between a spatially periodic array of obstacles and the suspended particles as they are driven through the obstacle lattice either by volume forces or by the Stokesian drag of the surrounding fluid. By this mechanism, a focused stream of suspended particles of different sizes entering the lattice splits into different currents, each entraining assigned ranges of particle dimensions, and each characterized by a specific angle with respect to the main device axis. In this work, we build up on recent results stemming from macrotransport process theory to derive a closed-form solution for the steady-state distribution of advecting-diffusing particles in the presence of anisotropic dispersion, which typically characterizes large-scale behavior of particle motion through the periodic lattice. Attention is focused on separation resolution, that ultimately controls the feasibility of the separation in specific applications

Dispersion phenomena in microchannels: Transition from Taylor-Aris to convection-dominated regime

This paper was presented at the 2nd Micro and Nano Flows Conference (MNF2009), which was held at Brunel University, West London, UK. The conference was organised by Brunel University and supported by the Institution of Mechanical Engineers, IPEM, the Italian Union of Thermofluid dynamics, the Process Intensification Network, HEXAG - the Heat Exchange Action Group and the Institute of Mathematics and its Applications.This article addresses the qualitative and quantitative properties of solute transport and dispersion in microchannel of finite-length. As the Peclet number increases a transition from the Taylor-Aris to a new regime referred as convection dominated dispersion occurs, which is controlled by the velocity profile near the stagnation points at the solid walls. The properties characterizing dispersion dominated regime can be used for analytical purposes as a chromatographic-based velocimetry and for determining the eventual occurrence of slip at the solid walls of microchannels

A renormalisation approach to excitable reaction-diffusion waves in fractal media

Of fundamental importance to wave propagation in a wide range of physical phenomena is the structural geometry of the supporting medium. Recently, there have been several investigations on wave propagation in fractal media. We present here a renormalization approach to the study of reaction-diffusion (RD) wave propagation on finitely ramified fractal structures. In particular we will study a Rinzel-Keller (RK) type model, supporting travelling waves on a Sierpinski gasket (SG), lattice

Dynamical features of reaction-diffusion fronts in fractals

The speed of front propagation in fractals is studied by using (i) the reduction of the reaction-transport equation into a Hamilton-Jacobi equation and (ii) the local-equilibrium approach. Different equations proposed for describing transport in fractal media, together with logistic reaction kinetics, are considered. Finally, we analyze the main features of wave fronts resulting from this dynamic process, i.e., why they are accelerated and what is the exact form of this acceleration

Critical dimensions for random walks on random-walk chains

The probability distribution of random walks on linear structures generated by random walks in $d$-dimensional space, $P_d(r,t)$, is analytically studied for the case $\xi\equiv r/t^{1/4}\ll1$. It is shown to obey the scaling form $P_d(r,t)=\rho(r) t^{-1/2} \xi^{-2} f_d(\xi)$, where $\rho(r)\sim r^{2-d}$ is the density of the chain. Expanding $f_d(\xi)$ in powers of $\xi$, we find that there exists an infinite hierarchy of critical dimensions, $d_c=2,6,10,\ldots$, each one characterized by a logarithmic correction in $f_d(\xi)$. Namely, for $d=2$, $f_2(\xi)\simeq a_2\xi^2\ln\xi+b_2\xi^2$; for $3\le d\le 5$, $f_d(\xi)\simeq a_d\xi^2+b_d\xi^d$; for $d=6$, $f_6(\xi)\simeq a_6\xi^2+b_6\xi^6\ln\xi$; for $7\le d\le 9$, $f_d(\xi)\simeq a_d\xi^2+b_d\xi^6+c_d\xi^d$; for $d=10$, $f_{10}(\xi)\simeq a_{10}\xi^2+b_{10}\xi^6+c_{10}\xi^{10}\ln\xi$, {\it etc.\/} In particular, for $d=2$, this implies that the temporal dependence of the probability density of being close to the origin $Q_2(r,t)\equiv P_2(r,t)/\rho(r)\simeq t^{-1/2}\ln t$.Comment: LATeX, 10 pages, no figures submitted for publication in PR

The structure of flame filaments in chaotic flows

The structure of flame filaments resulting from chaotic mixing within a combustion reaction is considered. The transverse profile of the filaments is investigated numerically and analytically based on a one-dimensional model that represents the effect of stirring as a convergent flow. The dependence of the steady solutions on the Damkohler number and Lewis number is treated in detail. It is found that, below a critical Damkohler number Da(crit), the flame is quenched by the flow. The quenching transition appears as a result of a saddle-node bifurcation where the stable steady filament solution collides with an unstable one. The shape of the steady solutions for the concentration and temperature profiles changes with the Lewis number and the value of Da(crit) increases monotonically with the Lewis number. Properties of the solutions are studied analytically in the limit of large Damkohler number and for small and large Lewis number.Comment: 17 pages, 13 figures, to be published in Physica

Myers' type theorems and some related oscillation results

In this paper we study the behavior of solutions of a second order differential equation. The existence of a zero and its localization allow us to get some compactness results. In particular we obtain a Myers' type theorem even in the presence of an amount of negative curvature. The technique we use also applies to the study of spectral properties of Schroedinger operators on complete manifolds.Comment: 16 page