Spinal Muscular Atrophy (SMA) is a debilitating disease that affects patients worldwide. While pharmacological therapies have shown to be effective in enhancing motor function in SMA patients, ...scoliosis management remains a significant challenge. The impact of these therapies on scoliosis is still uncertain, and it can have a negative impact on patient health outcomes. Therefore, it is important to conduct research to assess the effectiveness of pharmacological therapies in scoliosis management. This study aims to examine the effectiveness of these treatments in altering scoliosis progression in individuals diagnosed with SMA II. The Italian ISMAC centers conducted a retrospective analysis of prospective data on patients with SMA types II from January 2013 to September 2023, with patients being analysed in either treated or untreated subgroups for a minimum of 1.5 years. Patients' motor function level, age, and sex details, along with X-rays while sitting were included, and Cobb angle differences were computed by dividing the total change over the follow-up time. Comparing the two arms of the study, scoliosis progression showed no significant differences in the overall population. Differences were observed when analyzing patients treated <4.5 years old (p=0.01) or with a Cobb angle of <26 degrees (p=0.01). In this specific cohort, the Kaplan-Meier curve also demonstrated significant differences in patients reaching 40° or 50° of Cobb Angle over time. These findings suggest that early treatment with pharmacological therapies can not only improve motor function in SMA patients, but it can also modify scoliosis progression. This highlights the importance of initiating prompt and timely pharmacological treatment for SMA patients to improve outcomes. In conclusion, early treatment can optimize outcomes and modify scoliosis progression, emphasizing the critical role of timely action in managing SMA. Future research should aim to replicate these findings in larger samples and across different populations to improve the generalizability of the results. Overall, this study makes a significant contribution to the understanding of the effectiveness of pharmacological therapies in scoliosis management in SMA patients.
The Radial Neutron Camera (RNC) is a diagnostic system located in ITER Equatorial Port #1 providing several spatial and time-resolved parameters for the fusion power estimation, plasma control and ...physics studies. The RNC measures the uncollided 14 MeV and 2.5 MeV neutrons from deuterium-tritium (DT) and deuterium-deuterium (DD) fusion reactions through an array of neutron flux detectors located in collimated Lines of Sight. Signals from RNC detectors (fission chambers, single Crystal Diamonds and scintillators) need preamplification because of their low amplitude. These preamplifiers have to be as close as possible to the detectors in order to minimize signal degradation and must be protected against fast and thermal neutrons, gamma radiation and electromagnetic fields. The solution adopted is to host the preamplifiers in a shielded cabinet located in a dedicated area of the Port Cell, behind the Bioshield Plug. The overall design of the cabinet must ensure the necessary magnetic, thermal and nuclear shielding and, at the same, satisfy weight and allocated volume constraints and maintain its structural integrity. The present paper describes the nuclear design of the shielded cabinet, performed by means of 3D particle transport calculations (MCNP), taking into account the radiation streaming through the Bioshield penetrations and the cross-talk effect from the neighboring Lower and Upper Ports. We present the assessment of its nuclear shielding performances and analyze the compliancy with the alert thresholds for commercial electronics in terms of neutron flux and cumulated ionizing dose.
The paper presents an overview of the design status of the Radial Neutron Camera (RNC), that, together with the Vertical Neutron Camera, will provide, through reconstruction techniques applied to the ...measured line-integrated neutron fluxes, the time resolved measurement of the ITER neutron and α-source profile (i.e. neutron emissivity, neutrons emitted per unit time and volume). The RNC is composed of two subsystems, the In-Port RNC and Ex-Port RNC located, respectively, inside and outside the Plug of Equatorial Port #01. The In-Port subsystem is in a more advanced design stage since it has recently undergone the Final Design Review in the ITER procurement process. The paper describes the diagnostic layout, the interfaces, the measurement capabilities and the main challenges in its realization. Prototyping and testing of neutron detectors and electronics components were carried out and led to the choice of the component solutions that can match the environmental and operational constraints in terms radiation hardness, high temperature and electromagnetic compatibility. The performance of the RNC in terms of neutron emissivity measurement capability was assessed through 1D and 2D reconstruction analysis. It is proven that the neutron emissivity can be reconstructed in real-time within the measurement requirements: 10% accuracy, 10 ms time resolution and a/10 (a = plasma minor radius) space resolution.
The stability with respect to a peeling-ballooning mode (PBM) was investigated numerically with extended MHD simulation codes in JET, JT-60U and future JT-60SA plasmas. The MINERVA-DI code was used ...to analyze the linear stability, including the effects of rotation and ion diamagnetic drift ( * i ), in JET-ILW and JT-60SA plasmas, and the JOREK code was used to simulate nonlinear dynamics with rotation, viscosity and resistivity in JT-60U plasmas. It was validated quantitatively that the ELM trigger condition in JET-ILW plasmas can be reasonably explained by taking into account both the rotation and * i effects in the numerical analysis. When deuterium poloidal rotation is evaluated based on neoclassical theory, an increase in the effective charge of plasma destabilizes the PBM because of an acceleration of rotation and a decrease in * i . The difference in the amount of ELM energy loss in JT-60U plasmas rotating in opposite directions was reproduced qualitatively with JOREK. By comparing the ELM affected areas with linear eigenfunctions, it was confirmed that the difference in the linear stability property, due not to the rotation direction but to the plasma density profile, is thought to be responsible for changing the ELM energy loss just after the ELM crash. A predictive study to determine the pedestal profiles in JT-60SA was performed by updating the EPED1 model to include the rotation and * i effects in the PBM stability analysis. It was shown that the plasma rotation predicted with the neoclassical toroidal viscosity degrades the pedestal performance by about 10% by destabilizing the PBM, but the pressure pedestal height will be high enough to achieve the target parameters required for the ITER-like shape inductive scenario in JT-60SA.
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