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

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]

Europe’s War on Loot Boxes

Among the more pernicious forms of video game monetization, the much-reviled loot box, a digital capsule of collectible goods, faces ever ratcheting calls for regulation within the European Union. This past June, a group of twenty consumer rights organizations from eighteen European nations formally called on EU authorities to regulate the industry practice viewed as deceptive and predatory. Accounting for $15 billion in revenue in 2020 alone, including$1.6 billion in sales from publisher Electronic Arts’ (“EA”) various sports titles, loot boxes comprise a sizable chunk of industry revenue streams. They are here to stay it seems, at least for now. With over three billion gamers in the world, the function of loot boxes, their current implementation, and the current landscape for regulation merits discussion in guiding American policy going forward. This post was originally published on the Cardozo International & Comparative Law Review on November 7, 2022. The original post can be accessed via the Archived Link button above

Cultural studies of greenhouse grown Eustoma grandiflorum

1984 Fall.Covers not scanned.Includes bibliographical references.Change in photoperiod had no affect on flower initiation of Sakata F-1 hybrid E, grandiflorum; however, plant flower buds developed faster, had increased stem length, greater number of bud nodes, and more plant fresh and dry weight when exposed to day growing temperature and relative humidities of 22° C and 70%, compared to 17° C and 30-50% respectively. Sakata plants grown in volcanic scoria, gravel, and idealite had better growth and production than those in soil medium. The removal of terminal shoots at the fourth, fifth or sixth leaf pairs above the base, had no effect on growth, however, the removal of the growing tip only, reduced the flowering time by 10 days. The Weddle hybrid of E. grandiflorum was more productive and had larger stems than the Sakata hybrids. Both hybrids had two definite flowering cycles per year, one from May through June, and a second from August to mid-October. The vase life of both hybrids ranged from 8 to 18 days, but was not increased by preservative addition of 8-hydroxyquinoline citrate, (8-HQC), plus sugar. E. grandiflorum was attacked by red spider mite (Tetranychus urticae) and white fly (Trialeurades vaporariorurn) and was highly susceptible to Rhizoctonia solani and Fusarium spp

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

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

The Profit/Gain from Islamic Law of Contract Perspective and The Issue Of Ownership Risk (Daman al‐Milkiyyah)

In Islamic finance it is crucial to discuss the concept and the meaning of al-bay’ (Sale) and subsequently the concept of “Iwad”, when anyone want to understand issues concerning shariah legitimacy in Islamic banking and finance. The sale (Albay’) or the equivalent value “Iwad”, from shariah view, should consist of three main components, namely: market risk (ghurm), the work and effort (kasab), while the third component is liability (Daman). Albay; which is trade and commerce, constitutes the Quranic alternative to riba, as the contract of sale in Islamic law requires the seller to own the subject matter before executing the sale. The prophet Muhamad (pbuh) said: “do not sell what you do not own”. Therefore, there is a strong link between ownership and market risk. This research paper is analyzing the concept of profit from Islamic law perspective and discuss the issue of ownership risk in Islamic financial contracts. Using in depth analysis of literature review and qualitative methods of content analysis, this research implicitly explains the effect of Ghurm, Kasab, and Daman on Islamic finance transactions that are based on Albay'. Further, it highlights the principle mutual trade and cooperation in Albay' transactions.

Investigating the molecular mechanisms of Angiotensin II-induced leptin synthesis in vascular smooth muscle cells -

Thesis. M.Sc. American University of Beirut. Department of Pharmacology and Toxicology. Faculty of Medicine 2015. W 4 A997i 2015Advisor: Dr. Ramzi Sabra, Professor, Department of Pharmacology and Toxicology ; Co-Advisor: Dr. Asad Zeidan, Assistant Professor, Department of Anatomy, Cell Biology and Physiological Sciences ; Committee members: Dr. Joseph Simaan, Professor, Department of Pharmacology and Toxicology ; Dr. Ali Eid, Assistant Professor, Department of Pharmacology and Toxicology.Includes bibliographical references (leaves 92-115)Background and aims: There is considerable evidence supporting the role of Ang II and the obesity-associated adipokine leptin, in the pathogenesis of vascular hypertrophy and remodeling. Both proteins appear to mediate the hypertrophic effect of one another, possibly through a crosstalk or feedback mechanism. The correlation between Ang II and leptin has been scarcely investigated. In this study, we aimed to investigate whether Ang II induced leptin synthesis in vascular smooth muscle cells (VSMCs), to define the molecular mechanisms and pathways underlying this process; and to explore the particular molecular mechanisms that mediate the Ang II-induced hypertrophy and link them to leptin synthesis. Finally, we explored the role of the anti-atherosclerotic adipokine, adiponectin, in inhibiting the Ang II-induced vascular remodeling and hypertrophy. Methods: A VSMC cell culture and RPV (Rat Portal Vein) organ culture was performed in the absence-presence of Ang II; some studies involved the pretreatment of VSMCs and RPVs (before adding Ang II) with an inhibitor or with adiponectin. Western blot analysis was performed to detect Ang II-induced leptin, p-cofilin, p-p38, p-Akt and p-ERK1-2 expression. The effect of Ang II on ROS (Reactive Oxygen Species) formation and the G-F actin (Globular-Filamentous actin) ratio was detected by immunohistochemical analysis (via laser confocal microscopy) on VSMCs of the rat aorta. The actin depolymerization agent cytochalasin D (CD) and the RhoA-ROCK pathway inhibitor y-27632, the NOX inhibitor apocynin and the EGFR (Epidermal Growth Factor receptor) inhibitor AG-1478, were used to investigate the involvement of the intact actin cytoskeleton, the RhoA-ROCK pathway, NOX and EGFR activation respectively. Immunocytochemical analysis (via laser confocal microscopy) was done to study both, the effect of Ang II on leptin synthesis and the GATA-4 nuclear translocation in the VSMCs. The mRNA expressions of AdipoR1, AdipoR2 and adiponectin were deduced by qPCR analysis. Results: We were