Enfermedad de pompe: presentación de un caso

Presentamos el caso de una niña de 6 meses de ascendencia china con enfermedad de Pompe diagnosticada a partir de una miocardiopatía hipertrófica biventricular e hipotonía global. En esta enfermedad el acúmulo de glucógeno lisosomal principalmente en el corazón y músculo esquelético ocasiona la mayoría de la sintomatología clínica. En esta paciente la hipotonía generalizada, macroglosia, debilidad en el llanto y la confirmación ecocardiográfica de una miocardiopatía hipertrófica biventricular fueron el punto inicial para la sospecha clínica de la enfermedad que, junto a la elevación de enzimas musculares y hepáticas, condujo al estudio de alfa-glucosidasa ácida (AGA) que confirmó el diagnóstico. Desde 2006 existe terapia de reemplazo enzimático que permite mejorar la sobrevida y la calidad de vida si el diagnóstico se realiza precozmente.We are presenting the case of a 7 month old infant with infantile Pompe disease, who was the first case treated by enzyme replacement therapy (ERT) at our Hospital.The patient was of chinese ancestry and was suspected to have the disease after finding biventricular hypertrophic myocardiopathy and muscle weakness and hypotonia. Other relevant features were macroglosia and increase in CK level as well as the results of the electrophysiology studies. In view of the new possibility of ERT, educational efforts must be done in order to perform early diagnosis before signs of severe cardiorespiratory failure develops, and to improve survival and quality of life of patients with this condition

Effects of ammonia toxicity on growth performance, cortisol, glucose and hematological response of Nile Tilapia (Oreochromis niloticus)

Ammonia is a production limiting factor in the aquaculture media affecting fish production. A study was designed to scrutinize effects of ammonia on growth performance, survival, cortisol and hematological parameters of Tilapia fish. The study examined effects of 96 h-incubation of male and female Tilapia with 3 mg ammonium chloride per a liter of water compared to control. The study has been carried out in the physiology laboratory of the department of animal and fish production, Alexandria University. Fourteen aquaria were used (6 control and 8 ammoniated). Each aquarium contained 6 fish (half the population males and the other have females). Duration of the control reared fish was 30 days, however the duration for ammoniated group was 4 days. In all stressed fish, there found decreases in final body weight, average daily gain and specific growth rate as compared to controls. Hematological parameters revealed increases (P0.05) in total leukocyte counts in both males and females exposed to stressors. There were significant decreases (P0.05) in red blood cell, hematocrit value and hemoglobin concentration in both males and females. There were non-significant differences (P0.10) in these parameters between males and females. Exposing both male and female tilapia to ammonia, resulted in increases (P0.05) in mean corpuscular volume (MCV). Mean corpuscular hemoglobin (MCH) didn’t change in male tilapia, while females expressed increased MCH values in the ammonia condition. Mean corpuscular hemoglobin concentration (MCHC) decreased (P0.05) under ammonia with no differences between males and females. Differential leukocyte count exhibited increases (P0.05) in neutrophils in ammonia-exposed males and females and decreases (P0.05) in eosinophils and monocytes in males, but not in females. However, lymphocytes decreased (P0.05) in both females and males exposed to ammonia. Cortisol level increased (P0.05) by about 2 folds in both sexes of fish exposed to ammonia (2.95 and 2.72 vs6.40 and 6.48 ng/ml in control males and females vs ammonia-exposed males and females).Rearing tilapia fish in media containing high level (3mg/l water) of ammonium chloride not only deteriorated growth rate but it also negatively affected the health wellbeing.

Transport Properties of Doped t-J Ladders

Conductivity and Hall coefficient for various types of t-J ladders are calculated as a function of temperature and frequency by numerical diagonalization. A crossover from an incoherent to a coherent charge dynamics is found at a temperature T_{coh}. There exists another crossover at T_{PG} below which a pseudogap opens in the optical spectra, induced by the opening of a spin gap. In the absence of the spin gap, T_{coh} and the coherent weight are suppressed especially with increasing dimensionality. On the contrary, T_{coh} is strongly enhanced by the pseudogap formation below T_{PG}, where the coherent Drude weight decreases with increasing dimensionality. The Hall coefficient shows a strong crossover at T_{PG} below which it has large amplitude for small doping concentration.Comment: 4 pages, RevTeX, 5 PostScript figure

Charge-Spin Separation in 2D Fermi Systems: Singular Interactions as Modified Commutators, and Solution of 2D Hubbard Model in Bosonized Approximation

The general 2-dimensional fermion system with repulsive interactions (typified by the Hubbard Model) is bosonized, taking into account the finite on-shell forward scattering phase shift derived in earlier papers. By taking this phase shift into account in the bosonic commutation relations a consistent picture emerges showing the charge-spin separation and anomalous exponents of the Luttinger liquid.Comment: Latex file 14 pages. email: [email protected]

Whole genome computational comparative genomics: A fruitful approach for ascertaining Alu insertion polymorphisms

Alu elements are the most active and predominant type of short interspersed elements (SINEs) in the human genome. Recently inserted polymorphic (for presence/absence) Alu elements contribute to genome diversity among different human populations, and they are useful genetic markers for population genetic studies. The objective of this study is to identify polymorphic Alu insertions through an in silico comparative genomics approach and to analyze their distribution pattern throughout the human genome. By computationally comparing the public and Celera sequence assemblies of the human genome, we identified a total of 800 polymorphic Alu elements. We used polymerase chain reaction-based assays to screen a randomly selected set of 16 of these 800 Alu insertion polymorphisms using a human diversity panel to demonstrate the efficiency of our approach. Based on sequence analysis of the 800 Alu polymorphisms, we report three new Alu subfamilies, Ya3, Ya4b, and Yb11, with Yb11 being the smallest known Alu subfamily. Analysis of retrotransposition activity revealed Yb11, Ya8, Ya5, Yb9, and Yb8 as the most active Alu subfamilies and the maintenance of a very low level of retrotransposition activity or recent gene conversion events involving S subfamilies. The 800 polymorphic Alu insertions are characterized by the presence of target site duplications (TSDs) and longer than average polyA-tail length. Their pre-integration sites largely follow an extended NT-AARA motif. Among chromosomes, the density of Alu insertion polymorphisms is positively correlated with the Alu-site availability and is inversely correlated with the densities of older Alu elements and genes. © 2005 Elsevier B.V. All rights reserved

Powerlaw optical conductivity with a constant phase angle in high Tc superconductors

In certain materials with strong electron correlations a quantum phase transition (QPT) at zero temperature can occur, in the proximity of which a quantum critical state of matter has been anticipated. This possibility has recently attracted much attention because the response of such a state of matter is expected to follow universal patterns defined by the quantum mechanical nature of the fluctuations. Forementioned universality manifests itself through power-law behaviours of the response functions. Candidates are found both in heavy fermion systems and in the cuprate high Tc superconductors. Although there are indications for quantum criticality in the cuprate superconductors, the reality and the physical nature of such a QPT are still under debate. Here we identify a universal behaviour of the phase angle of the frequency dependent conductivity that is characteristic of the quantum critical region. We demonstrate that the experimentally measured phase angle agrees precisely with the exponent of the optical conductivity. This points towards a QPT in the cuprates close to optimal doping, although of an unconventional kind.Comment: pdf format, 9 pages, 4 color figures include

Marginal Fermi liquid analysis of 300 K reflectance of Bi2Sr2CaCu2O8+x

We use 300 K reflectance data to investigate the normal-state electrodynamics of the high temperature superconductor Bi$_{2}$Sr$_{2}$CaCu$_{2}$O$_{8+\delta}$ over a wide range of doping levels. The data show that at this temperature the free carriers are coupled to a continuous spectrum of fluctuations. Assuming the Marginal Fermi Liquid (MFL) form as a first approximation for the fluctuation spectrum, the doping-dependent coupling constant $\lambda (p)$ can be estimated directly from the slope of the reflectance spectrum. We find that $\lambda (p)$ decreases smoothly with the hole doping level, from underdoped samples with $p=0.103$ ($T_c = 67$ K) where $\lambda (p)= 0.93$ to overdoped samples with $p=0.226$, ($T_c= 60$ K) where $\lambda(p)= 0.53$. An analysis of the intercept and curvature of the reflectance spectrum shows deviations from the MFL spectrum symmetrically placed at the optimal doping point $p=0.16$. The Kubo formula for the conductivity gives a better fit to the experiments with the MFL spectrum up to 2000 cm$^{-1}$ and with an additional Drude component or an additional Lorentz component up to 7000 cm$^{-1}$. By comparing three different model fits we conclude that the MFL channel is necessary for a good fit to the reflectance data. Finally, we note that the monotonic variation of the reflectance slope with doping provides us with an independent measure of the doping level for the Bi-2212 system.Comment: 11 pages, 11 figure

Non-Fermi liquid regime of a doped Mott insulator

We study the doping of a Mott insulator in the presence of quenched frustrating disorder in the magnetic exchange. A low doping regime $\delta<J/t$ is found, in which the quasiparticle coherent scale is low : $\epsilon_F^* = J (\delta/\delta^*)^2$ with $\delta^*=J/t$ (the ratio of typical exchange to hopping). In the ``quantum critical regime'' $\epsilon_F^*<T<J$, several physical quantities display Marginal Fermi Liquid behaviour : NMR relaxation time $1/T_1\sim const.$, resistivity $\rho_{dc}(T) \propto T$, optical lifetime \tau_{opt}^{-1}\propto \omega/\ln(\omega/\epstar) and response functions obey $\omega/T$ scaling, e.g. $J\sum_q \chi''(q,\omega) \propto \tanh (\omega/2T)$. In contrast, single-electron properties display stronger deviations from Fermi liquid theory in this regime with a $\sqrt{\omega}$ dependence of the inverse single-particle lifetime and a $1/\sqrt{\omega}$ decay of the photoemission intensity. On the basis of this model and of various experimental evidence, it is argued that the proximity of a quantum critical point separating a glassy Mott-Anderson insulator from a metallic ground-state is an important ingredient in the physics of the normal state of cuprate superconductors (particularly the Zn-doped materials). In this picture the corresponding quantum critical regime is a ``slushy'' state of spins and holes with slow spin and charge dynamics responsible for the anomalous properties of the normal state.Comment: 40 pages, RevTeX, including 13 figures in EPS. v2 : minor changes, some references adde

Survivin gene silencing sensitizes prostate cancer cells to selenium growth inhibition

<p>Abstract</p> <p>Background</p> <p>Prostate cancer is a leading cause of cancer-related death in men worldwide. Survivin is a member of the inhibitor of apoptosis (IAP) protein family that is expressed in the majority of human tumors including prostate cancer, but is barely detectable in terminally differentiated normal cells. Downregulation of survivin could sensitize prostate cancer cells to chemotherapeutic agents <it>in vitro </it>and <it>in vivo</it>. Selenium is an essential trace element. Several studies have shown that selenium compounds inhibit the growth of prostate cancer cells. The objective of this study is to investigate whether survivin gene silencing in conjunction with selenium treatment could enhance the therapeutic efficacy for prostate cancer and to elucidate the underlying mechanisms.</p> <p>Methods</p> <p>Expression of survivin was analyzed in a collection of normal and malignant prostatic tissues by immunohistochemical staining. <it>In vitro </it>studies were conducted in PC-3M, C4-2B, and 22Rv1 prostate cancer cells. The effect of selenium on survivin expression was analyzed by Western blotting and semi-quantitative RT-PCR. Survivin gene knockdown was carried out by transfecting cells with a short hairpin RNA (shRNA) designed against survivin. Cell proliferation was quantitated by the 3-(4,5-Dimethylthiazol-2-yl)- 2,5-Diphenyltetrazolium Bromide (MTT) assay and apoptosis by propidium iodide staining followed by flow cytometry analysis. Finally, <it>in vivo </it>tumor growth assay was performed by establishing PC-3M xenograft in nude mice and monitoring tumor growth following transfection and treatment.</p> <p>Results</p> <p>We found that survivin was undetectable in normal prostatic tissues but was highly expressed in prostate cancers. Survivin knockdown or selenium treatment inhibited the growth of prostate cancer cells, but the selenium effect was modest. In contrast to what have been observed in other cell lines, selenium treatment had little or no effect on survivin expression in several androgen-independent prostate cancer cell lines. Survivin knockdown sensitized these cells to selenium growth inhibition and apoptosis induction. In nude mice bearing PC-3M xenografts, survivin knockdown synergizes with selenium in inhibiting tumor growth.</p> <p>Conclusions</p> <p>Selenium could inhibit the growth of hormone-refractory prostate cancer cells both <it>in vitro </it>and <it>in vivo</it>, but the effects were modest. The growth inhibition was not mediated by downregulating survivin expression. Survivin silencing greatly enhanced the growth inhibitory effects of selenium.</p