321 research outputs found
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
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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
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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
Long-term bone outcomes in Italian patients with Gaucher disease type 1 or type 3 treated with imiglucerase: A sub-study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry
Background: Gaucher disease (GD) is a lysosomal storage disorder. We evaluated the “real-world” effectiveness of first-line imiglucerase on long-term bone outcomes in Italian patients in the International Collaborative Gaucher Group (ICGG) Gaucher Registry. Methods: Patients treated with imiglucerase for ≥2 years and with bone assessments at baseline and during follow-up were selected. Data on bone pain, bone crises, marrow infiltration, avascular necrosis, infarction, lytic lesions, Erlenmeyer flask deformity, bone fractures, mineral density, and imiglucerase dosage were evaluated. Results: Data on bone manifestations were available for 73 of 229 patients (31.9 %). Bone crises frequency decreased significantly from baseline to the most recent follow-up (p < 0.001), with some improvement observed in bone pain prevalence. Bone pain and bone crises prevalence decreased significantly from baseline at 2 to <4 and 4 to <6 years (all p < 0.05). A low median (25th, 75th percentile) baseline imiglucerase dosage was identified in patients reporting bone pain or bone crises (15.0 [13.7, 30.0] and 22.8 [17.5, 36.0] U/kg once every 2 weeks, respectively). Conclusion: Our study suggests that the management of GD in Italy, with regards to imiglucerase dosage, is suboptimal and confirms the need for clinicians to monitor and correctly treat bone disease according to best practice guidelines
Time fractional Schrodinger equation
The Schrodinger equation is considered with the first order time derivative
changed to a Caputo fractional derivative, the time fractional Schrodinger
equation. The resulting Hamiltonian is found to be non-Hermitian and non-local
in time. The resulting wave functions are thus not invariant under time
reversal. The time fractional Schrodinger equation is solved for a free
particle and for a potential well. Probability and the resulting energy levels
are found to increase over time to a limiting value depending on the order of
the time derivative. New identities for the Mittag-Leffler function are also
found and presented in an appendix.Comment: 23 page
Fractional differentiability of nowhere differentiable functions and dimensions
Weierstrass's everywhere continuous but nowhere differentiable function is
shown to be locally continuously fractionally differentiable everywhere for all
orders below the `critical order' 2-s and not so for orders between 2-s and 1,
where s, 1<s<2 is the box dimension of the graph of the function. This
observation is consolidated in the general result showing a direct connection
between local fractional differentiability and the box dimension/ local Holder
exponent. Levy index for one dimensional Levy flights is shown to be the
critical order of its characteristic function. Local fractional derivatives of
multifractal signals (non-random functions) are shown to provide the local
Holder exponent. It is argued that Local fractional derivatives provide a
powerful tool to analyze pointwise behavior of irregular signals.Comment: minor changes, 19 pages, Late
Precision Measurements of Stretching and Compression in Fluid Mixing
The mixing of an impurity into a flowing fluid is an important process in
many areas of science, including geophysical processes, chemical reactors, and
microfluidic devices. In some cases, for example periodic flows, the concepts
of nonlinear dynamics provide a deep theoretical basis for understanding
mixing. Unfortunately, the building blocks of this theory, i.e. the fixed
points and invariant manifolds of the associated Poincare map, have remained
inaccessible to direct experimental study, thus limiting the insight that could
be obtained. Using precision measurements of tracer particle trajectories in a
two-dimensional fluid flow producing chaotic mixing, we directly measure the
time-dependent stretching and compression fields. These quantities, previously
available only numerically, attain local maxima along lines coinciding with the
stable and unstable manifolds, thus revealing the dynamical structures that
control mixing. Contours or level sets of a passive impurity field are found to
be aligned parallel to the lines of large compression (unstable manifolds) at
each instant. This connection appears to persist as the onset of turbulence is
approached.Comment: 5 pages, 5 figure
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