Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy

Background-Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown. This study determined the prevalence of a potentially treatable cause of hypertrophy, Anderson-Fabry disease, in a HCM referral population.Methods and Results-Plasma alpha-galactosidase A (alpha-Gal) was measured in 79 men with HCM who were diagnosed at greater than or equal to40 years of age (52.9 +/- 7.7 years; range, 40-71 years) and in 74 men who were diagnosed at <40 years (25.9 +/- 9.2 years; range, 8-39 years). Five patients (6.3%) with late-onset disease and 1 patient (1.4%) diagnosed at <40 years had low alpha-Gal activity. Of these 6 patients, 3 had angina, 4 were in New York Heart Association class 2, 5 had palpitations, and 2 had a history of syncope. Hypertrophy was concentric in 5 patients and asymmetric in 1 patient. One patient had left ventricular outflow tract obstruction. All patients with low alpha-Gal activity had alpha-Gal gene mutations.Conclusion-Anderson-Fabry disease should be considered in all cases of unexplained hypertrophy. Its recognition is important given the advent of specific replacement enzyme therapy

Shipbuilding and economic cycles: a non-linear econometric approach

Purpose Economic studies have always underlined the cyclical trends of many industries and their different relations to the macro-economic cycles. Shipping is one of those industries and it has been often characterised by peaks that have influenced both the trade patterns and industry investment structure (e.g. fleet, shipyard activity, freight rates). One of the main issues related with the cycles is the effect on overcapacity and prices for newbuilding and how the understanding of these patterns can help in preventing short-hand strategies. The purpose of this paper is to evaluate different effects of business elements on shipbuilding activity, in relation to different economic-cycle phases. Design/methodology/approach This paper proposes a non-linear econometric model to identify the relations between shipbuilding and economic cycles over the past 30 years. The research focuses on identifying the cycle characteristics and understanding the asymmetrical effect of economic- and business-related variables on its development. Findings The study underlines the presence of an asymmetric effect of several business variables on the shipbuilding productions, depending on the cyclical phases (i.e. market expansion or economic slowdown). Moreover, lagged effects seem to be stronger than contemporaneous variables. Originality/value The paper is a first attempt of using non-linear modelling to shipbuilding cycles, giving indications that could be included in relevant investment policies

Understanding the impact of demand shocks on the container port industry

The Covid-19 pandemic has severely impacted the world economy, generating an unprecedented shock that pushed carriers to adapt to the collapse of demand. Most of the related adaptation actions (e.g., blank sailings) appear as temporary initiatives being insufficient to reach a long run equilibrium. Moreover, while carriers managed to adjust their own supplied capacity to the ongoing crisis, the port sector has been greatly impacted by the fall in transport demand, not being able to counteract the demand shortages as effectively as the carriers. Against this backdrop, the paper introduces a model for assessing the effects of demand shocks (e.g., due to the pandemic) on the integration strategies of carriers. We focus on the possible initiatives that demand shocks may trigger on the horizontal and vertical integration among the actors of the shipping industry. In doing so, the present study provides useful insights for better understanding potential future market modifications and their impact on social welfare. Using non-cooperative games, profit-maximising strategies, in case of such integrations, are compared in order to study how carriers and terminal operators might react to demand shocks in the medium and long run

Phase diagram of YBa2_2Cu3_3O7−y_{7-y} at T<<Tc_c based on Cu(2) transverse nuclear relaxation

Two maxima in transverse relaxation rate of Cu(2) nuclei in YBa$_2$Cu$_3$O$_{7-y}$ are observed, at T = 35 K and T = 47 K. Comparison of the $^{63}$Cu(2) and $^{65}$Cu(2) rates at T = 47 K indicates the magnetic character of relaxation. The enhancement at T = 47 K of fluctuating local magnetic fields perpendicular to the CuO$_2$ planes is connected with the critical fluctuations of orbital currents. Maximum at T = 35 K is connected with the appearance of inhomogeneous supeconducting phase. Together with data published to date, our experimental results allow to suggest a qualitatively new phase diagram of the superconducting phase.Comment: 4 LaTEX pages + 3 figures in *.ps forma

High spin Fe(III)-doped nanostructures as T1 MR imaging probes

Magnetic Resonance Imaging (MRI) T1 contrast agents based on Fe(III) as an alternative to Gd-based compounds have been under intense scrutiny in the last 6-8 years and a number of nanostructures have been designed and proposed for in vivo diagnostic and theranostic applications. Excluding the large family of superparamagnetic iron oxides widely used as T2 -MR imaging agents that will not be covered by this review, a considerable number and type of nanoparticles (NPs) have been employed, ranging from amphiphilic polymer-based NPs, NPs containing polyphenolic binding units such as melanin-like or polycatechols, mixed metals such as Fe/Gd or Fe/Au NPs and perfluorocarbon nanoemulsions. Iron(III) exhibits several favorable magnetic properties, high biocompatibility and improved toxicity profile that place it as the paramagnetic ion of choice for the next generation of nanosized MRI and theranostic contrast agents. An analysis of the examples reported in the last decade will show the opportunities for relaxivity and MR-contrast enhancement optimization that could bring Fe(III)-doped NPs to really compete with Gd(III)-based nanosystems. This article is categorized under: Diagnostic Tools > In Vivo Nanodiagnostics and Imaging Diagnostic Tools > Diagnostic Nanodevices Therapeutic Approaches and Drug Discovery > Nanomedicine for Oncologic Disease

Surprising Complexity of the [Gd(AAZTA)(H2O)2]- Chelate Revealed by NMR in the Frequency and Time Domains

Typically, Ln(III) complexes are isostructural along the series, which enables studying one particular metal chelate to derive the structural features of the others. This is not the case for [Ln(AAZTA)(H2O)x]- (x = 1, 2) systems, where structural variations along the series cause changes in the hydration number of the different metal complexes, and in particular the loss of one of the two metal-coordinated water molecules between Ho and Er. Herein, we present a 1H field-cycling relaxometry and 17O NMR study that enables accessing the different exchange dynamics processes involving the two water molecules bound to the metal center in the [Gd(AAZTA)(H2O)2]- complex. The resulting picture shows one Gd-bound water molecule with an exchange rate ∼6 times faster than that of the other, due to a longer metal-water distance, in accordance with density functional theory (DFT) calculations. The substitution of the more labile water molecule with a fluoride anion in a diamagnetic-isostructural analogue of the Gd-complex, [Y(AAZTA)(H2O)2]-, allows us to follow the chemical exchange process by high-resolution NMR and to describe its thermodynamic behavior. Taken together, the variety of tools offered by NMR (including high-resolution 1H, 19F NMR as a function of temperature, 1H longitudinal relaxation rates vs B0, and 17O transverse relaxation rates vs T) provides a complete description of the structure and exchange dynamics of these Ln-complexes along the series

752-6 Visualization of Coronary Arteries and Measurement of Coronary Blood Flow with Transthoracic Echocardiography After Intravenous Administration of a New Echocardlographic Contrast Agent

Imagent®US (AF0145, Alliance Pharmaceutical Corp.), a new hemodynamically inert perfluorochemical echocardiographic contrast agent, produces excellent left ventricular and blood pool contrast effect after intravenous administration when imaged with conventional (2-D) ultrasound. We evaluated the potential of Contrast Specific Imaging (Acuson) employing second harmonic principles to further enhance the visualization of structures containing contrast agents. Transthoracic images were obtained during injections of 10–40mg of the agent into the left femoral vein of seven closed chest dogs. Coronary Dopplerflow was simultaneously measured using an intracoronary Doppler wire. No alterations in flow velocities were observed with contrast administration. There was heterogenous opacification of the myocardium following contrast injection: a striking finding was of contrast-enhanced linear, branching structures in the myocardium consistent with coronary vessels. Further exploration of the largest structures (2–3mm diameter) in the region of the basal ventricular septum was technically possible with pulsed wave Doppler in two dogs. A characteristic coronary Doppler flow pattern was observed (Fig 1a). Transthoracic Doppler flow velocities transiently increased after intracoronary adenosine (Fig 1b). The calculated coronary flow reserve ratio was similar to simultaneous intracoronary Doppler measurements.ConclusionsIntramyocardial coronaryvasculature was observed and coronary flow velocites were measured during transthoracic Contrast Specific Imaging with an intravenously administered contrast agent. These findings suggest that noninvasive assessment of coronary blood flow is possible with echocardiographic contrast enhancement

Inter-annual variation in CH4 efflux and the associated processes with reference to delta-13C-, delta-D-CH4 at the Lowland of Indigirka River in Northeastern Siberia

第6回極域科学シンポジウム分野横断セッション：[IA] 急変する北極気候システム及びその全球的な影響の総合的解明―GRENE北極気候変動研究事業研究成果報告2015―11月19日（木）　国立極地研究所１階交流アトリウ