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result(s) for
"SMA"
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Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients
2024
Background: Spinal muscular atrophy (SMA) is a genetic disease characterized by loss of motor neurons in the spinal cord and lower brainstem. The term “SMA” usually refers to the most common form, 5q-SMA, which is caused by biallelic mutations in SMN1 (located on chromosome 5q13). However, long before the discovery of SMN1, it was known that other forms of SMA existed. Therefore, SMA is currently divided into two groups: 5q-SMA and non-5q-SMA. This is a simple and practical classification, and therapeutic drugs have only been developed for 5q-SMA (nusinersen, onasemnogene abeparvovec, risdiplam) and not for non-5q-SMA disease. Methods: We conducted a non-systematic critical review to identify the characteristics of each SMA disease. Results: Many of the non-5q-SMA diseases have similar symptoms, making DNA analysis of patients essential for accurate diagnosis. Currently, genetic analysis technology using next-generation sequencers is rapidly advancing, opening up the possibility of elucidating the pathology and treating non-5q-SMA. Conclusion: Based on accurate diagnosis and a deeper understanding of the pathology of each disease, treatments for non-5q-SMA diseases may be developed in the near future.
Journal Article
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study
by
Claudio Bruno
,
Nathalie Goemans
,
Claudia Dosi
in
ANCHOVY
,
ANCHOVY; FIREFISH; SMA natural history; Spinal muscular atrophy; Type 1 SMA
,
ANCHOVY; FIREFISH; SMA natural history; Spinal muscular atrophy; Type 1 SMA; Asia; Europe; Humans; Infant; Retrospective Studies; Muscular Atrophy, Spinal; Spinal Muscular Atrophies of Childhood
2022
Background
ANCHOVY was a global, multicenter, chart-review study that aimed to describe the natural history of Type 1 spinal muscular atrophy (SMA) from a broad geographical area and provide further contextualization of results from the FIREFISH (NCT02913482) interventional study of risdiplam treatment in Type 1 SMA.
Methods
Data were extracted from medical records of patients with first symptoms attributable to Type 1 SMA between 28 days and 3 months of age, genetic confirmation of SMA, and confirmed survival of motor neuron 2 copy number of two or unknown. The study period started on 1 January 2008 for all sites; study end dates were site-specific due to local treatment availabilities. Primary endpoints were time to death and/or permanent ventilation and proportion of patients achieving motor milestones. Secondary endpoints included time to initiation of respiratory and feeding support.
Results
Data for 60 patients from nine countries across Asia, Europe and North and South America were analyzed. The median age (interquartile range [IQR]) for reaching death or permanent ventilation was ~ 7.3 (5.9–10.5) months. The median age (IQR) at permanent ventilation was ~ 12.7 (6.9–16.4) months and at death was ~ 41.2 (7.3–not applicable) months. No patients were able to sit without support or achieved any level of crawling, standing or walking.
Interpretation
Findings from ANCHOVY were consistent with published natural history data on Type 1 SMA demonstrating the disease’s devastating course, which markedly differed from risdiplam-treated infants (FIREFISH Part 2). The results provide meaningful additions to the literature, including a broader geographical representation.
Journal Article
Review of Neural Network Modeling of Shape Memory Alloys
by
Lapusta, Yuri
,
Chapelle, Frédéric
,
Hmede, Rodayna
in
Algorithms
,
Alloys
,
Artificial intelligence
2022
Shape memory materials are smart materials that stand out because of several remarkable properties, including their shape memory effect. Shape memory alloys (SMAs) are largely used members of this family and have been innovatively employed in various fields, such as sensors, actuators, robotics, aerospace, civil engineering, and medicine. Many conventional, unconventional, experimental, and numerical methods have been used to study the properties of SMAs, their models, and their different applications. These materials exhibit nonlinear behavior. This fact complicates the use of traditional methods, such as the finite element method, and increases the computing time necessary to adequately model their different possible shapes and usages. Therefore, a promising solution is to develop new methodological approaches based on artificial intelligence (AI) that aims at efficient computation time and accurate results. AI has recently demonstrated some success in efficiently modeling SMA features with machine- and deep-learning methods. Notably, artificial neural networks (ANNs), a subsection of deep learning, have been applied to characterize SMAs. The present review highlights the importance of AI in SMA modeling and introduces the deep connection between ANNs and SMAs in the medical, robotic, engineering, and automation fields. After summarizing the general characteristics of ANNs and SMAs, we analyze various ANN types used for modeling the properties of SMAs according to their shapes, e.g., a wire as an actuator, a wire with a spring bias, wire systems, magnetic and porous materials, bars and rings, and reinforced concrete beams. The description focuses on the techniques used for NN architectures and learning.
Journal Article
Application of shape memory alloys in engineering – A review
2021
Shape Memory Alloy is a smart alloy which retains their original shape under thermomechanical or magnetic variation. Shape Memory Alloy are widely used in different engineering field because of its superior properties and variety of application. Recent research of SMA has been applied in the field of Aerospace, Automotive, Biomedical, and Robotics. This memory effect is due to the presence of austenite and martensite crystalline structures. These alloys are bio-compatible, lightweight, and also possess a high force-to-weight ratio. Due to this SMA actuators are very much suitable for soft robotic applications. However, due to high cooling times during phase change, SMA has small bandwidth and low operating frequencies. This alloy can replace a sensor as it performs the same work done by sensors or transducer. An extensive review of history, material characterization, and opportunities of SMA in the engineering field.
Journal Article
The impact of strategic management accounting (SMA) facets on organisational performance: the mediating role of the use of SMA practices
by
Baird, Kevin
,
Su, Sophia Xia
,
Nuhu, Nuraddeen
in
Economic value added
,
Financial performance
,
Management accounting
2025
Purpose This study aims to examine the mediating role of the use of SMA practices on the association between SMA facets and organisational performance. Design/methodology/approach A structural equation modelling was used to analyse the data based on a survey of 408 accountants working in Australian organisations. Findings The results of the structural equation model indicated that SMA facets were positively associated with the use of SMA practices as a package. The use of SMA practices as a package was subsequently positively associated with organisational performance, with the use of SMA practices mediating the effect of SMA facets on organisational performance. In addition, a direct association was found between SMA facets and organisational performance. Originality/value The findings make a significant contribution to the management accounting literature, specifically to the emerging SMA and use of management accounting practices as a package line of studies. The findings also have significant implications for practice, highlighting the need to consider the interplay between the facets of SMA and the use of SMA practices as a means of enhancing the impact of SMA.
Journal Article
Alternative Recipes SMA 11 with EAF FE-NI SLAG Aggregates the Only Possibility of Increasing the Safety and Comfort of Driving on The Highway
by
Deda, Nol
,
Ibrahimi, Izet
2024
Objective: The objective of this study is to investigate the possibilities of using the slag of the electric arc furnace, for the development of the alternative recipe SMA 11, as one of the possibilities of increasing the safety and comfort of driving on the highway. Theoretical Framework: Theoretical, EAF (electric arc furnace slag) is an intermediate product, that during the melting process about 75% of the ore turns into slag, chemical and physical-mechanical properties of which make it a valuable aggregate for industry and especially for the development of recipes for asphalt concretes with advanced properties. The use EAF slag aggregates would be a good possibility for the development of an alternative asphalt concrete recipe for highways with comfort driving and high safety. Method: The methodology adopted for this research comprises chemical, mechanical-physical research methods, as well as the evaluation of the performance indicators of the consumable layer AC, developed according to the alternative recipe SMA 11. Results and Discussion: EAF Fe-Ni slag is classified as non-hazardous waste and has properties almost similar to conventional aggregates, and in some cases even better. The results obtained of the research have shown that the alternative recipe SMA (stone matrix aggregate) has an excellent skid coefficient, which guarantees high driving safety on the highway. Originality/Value: The use of EAF slag, in addition increasing the safety and comfort of driving on the highway, at the same time, show positive effects in terms of the rational use of natural resources, energy resources and environmental protection.
Journal Article
Behaviour Investigation of SMA-Equipped Bar Hysteretic Dampers Using Machine Learning Techniques
by
Hasani, Hamed
,
Karakouzian, Moses
,
Eidgahee, Danial Rezazadeh
in
Artificial intelligence
,
artificial neural network (ANN)
,
Costs
2021
Most isolators have numerous displacements due to their low stiffness and damping properties. Accordingly, the supplementary damping systems have vital roles in damping enhancement and lower the isolation system displacement. Nevertheless, in many cases, even by utilising additional dampers in isolation systems, the occurrence of residual displacement is inevitable. To address this issue, in this study, a new smart type of bar hysteretic dampers equipped with shape memory alloy (SMA) bars with recentring features, as the supplementary damper, is introduced and investigated. In this regard, 630 numerical models of SMA-equipped bar hysteretic dampers (SMA-BHDs) were constructed based on experimental samples with different lengths, numbers, and cross sections of SMA bars. Furthermore, by utilising hysteresis curves and the corresponding ideal bilinear curves, the role of geometrical and mechanical parameters in the cyclic behaviour of SMA-BHDs was examined. Due to the deficiency of existing analytical models, proposed previously for steel bar hysteretic dampers (SBHDs), to estimate the first yield point displacement and post-yield stiffness ratio in SMA-BHDs accurately, new models were developed by the artificial neural network (ANN) and group method of data handling (GMDH) approaches. The results showed that, although the ANN models outperform GMDH ones, both ANN- and GMDH-based models can accurately estimate the linear and nonlinear behaviour of SMA-BHDs in pre- and post-yield parts with low errors and high accuracy and consistency.
Journal Article
An Overview of Novel Actuators for Soft Robotics
2018
In this systematic survey, an overview of non-conventional actuators particularly used in soft-robotics is presented. The review is performed by using well-defined performance criteria with a direction to identify the exemplary and potential applications. In addition to this, initial guidelines to compare the performance and applicability of these novel actuators are provided. The meta-analysis is restricted to five main types of actuators: shape memory alloys (SMAs), fluidic elastomer actuators (FEAs), shape morphing polymers (SMPs), dielectric electro-activated polymers (DEAPs), and magnetic/electro-magnetic actuators (E/MAs). In exploring and comparing the capabilities of these actuators, the focus was on eight different aspects: compliance, topology-geometry, scalability-complexity, energy efficiency, operation range, modality, controllability, and technological readiness level (TRL). The overview presented here provides a state-of-the-art summary of the advancements and can help researchers to select the most convenient soft actuators using the comprehensive comparison of the suggested quantitative and qualitative criteria.
Journal Article
Anti‐Inflammatory and Anti‐Fibrotic Effects of Human Amniotic Membrane Mesenchymal Stem Cells and Their Potential in Corneal Repair
by
Sánchez‐García, Francisco Javier
,
Garfias, Yonathan
,
Chávez‐García, César
in
Amnion - cytology
,
Amniotic membrane
,
Animals
2018
Acute ocular chemical burns are ophthalmic emergencies requiring immediate diagnosis and treatment as they may lead to permanent impairment of vision. The clinical manifestations of such burns are produced by exacerbated innate immune response via the infiltration of inflammatory cells and activation of stromal fibroblasts. New therapies are emerging that are dedicated to repair mechanisms that improve the ocular surface after damage; for example, transplantation of stem cells (SC) has been successfully reported for this purpose. The pursuit of easily accessible, noninvasive procedures to obtain SC has led researchers to focus on human tissues such as amniotic membrane. Human amniotic mesenchymal SC (hAM‐MSC) inhibits proinflammatory and fibrotic processes in different diseases. hAM‐MSC expresses low levels of classical MHC‐I and they do not express MHC‐II, making them suitable for regenerative medicine. The aim of this study was to evaluate the effect of intracameral injection of hAM‐MSC on the clinical manifestations, the infiltration of inflammatory cells, and the activation of stromal fibroblasts in a corneal alkali‐burn model. We also determined the in vitro effect of hAM‐MSC conditioned medium (CM) on α‐SMA+ human limbal myofibroblast (HLM) frequency and on release of neutrophil extracellular traps (NETs). Our results show that intracameral hAM‐MSC injection reduces neovascularization, opacity, stromal inflammatory cell infiltrate, and stromal α‐SMA+ cells in our model. Moreover, in in vitro assays, CM from hAM‐MSC decreased the quantity of α‐SMA+ HLM and the release of NETs. These results suggest that intracameral hAM‐MSC injection induces an anti‐inflammatory and anti‐fibrotic environment that promotes corneal wound healing. Stem Cells Translational Medicine 2018;7:906–917 A novel route of administration of mesenchymal stem cells obtained from human amnion in corneal alkali‐burn ameliorates corneal inflammation and fibrosis; also, these stem cells secrete soluble factors that improve corneal wound healing by reducing inflammation and inhibiting α‐SMA myofibroblasts differentiation and suppress neutrophils activation.
Journal Article
A Wearable Assistive Device for Blind Pedestrians Using Real-Time Object Detection and Tactile Presentation
by
Sawada, Hideyuki
,
Chen, Yiwen
,
Shen, Junjie
in
assistance for visually impaired people
,
Blindness
,
model compression
2022
Nowadays, improving the traffic safety of visually impaired people is a topic of widespread concern. To help avoid the risks and hazards of road traffic in their daily life, we propose a wearable device using object detection techniques and a novel tactile display made from shape-memory alloy (SMA) actuators. After detecting obstacles in real-time, the tactile display attached to a user’s hands presents different tactile sensations to show the position of the obstacles. To implement the computation-consuming object detection algorithm in a low-memory mobile device, we introduced a slimming compression method to reduce 90% of the redundant structures of the neural network. We also designed a particular driving circuit board that can efficiently drive the SMA-based tactile displays. In addition, we also conducted several experiments to verify our wearable assistive device’s performance. The results of the experiments showed that the subject was able to recognize the left or right position of a stationary obstacle with 96% accuracy and also successfully avoided collisions with moving obstacles by using the wearable assistive device.
Journal Article