Genetic Determinants of Seizures and Epilepsy

US Neurology ◽  
2009 ◽  
Vol 05 (01) ◽  
pp. 63
Author(s):  
Russell J Buono ◽  
Dennis J Dlugos ◽  
Thomas N Ferraro ◽  
◽  
◽  
...  

Epilepsy is a group of common neurological disorders characterized by heterogeneous clinical presentation. The etiology of epilepsy is multifactorial, involving the influence of multiple gene variants interacting with factors in the environment. Certain rare forms of epilepsy have been attributed to mutations in a single gene, and although the list of such genes that are sufficient to produce epilepsy when mutated is growing steadily, they are directly relevant to only a very small fraction of all cases of epilepsy. Genetic influences in common forms of epilepsy have been more difficult to identify and future studies will focus on strategies to hasten the discovery process. The combination of translational research involving animal models and advances in genome technology will facilitate the identification of genetic variations that influence seizure susceptibility and contribute to the risk for developing common epilepsy. Application of genetic strategies to clinically well-characterized epilepsy patients will provide the added benefit of yielding data that are also relevant to the discovery of genes that influence responsiveness to the effects of antiepileptic drugs. Thus, future research on the genetic influences in epilepsy is anticipated to provide insight into both the underlying biological basis of seizures and potential targets that may be used to develop new treatments.

2021 ◽  
Vol 22 (13) ◽  
pp. 6773
Author(s):  
Yuze Wu ◽  
Guojun Wei ◽  
Ningning Zhao

As a newly identified manganese transport protein, ZIP14 is highly expressed in the small intestine and liver, which are the two principal organs involved in regulating systemic manganese homeostasis. Loss of ZIP14 function leads to manganese overload in both humans and mice. Excess manganese in the body primarily affects the central nervous system, resulting in irreversible neurological disorders. Therefore, to prevent the onset of brain manganese accumulation becomes critical. In this study, we used Zip14−/− mice as a model for ZIP14 deficiency and discovered that these mice were born without manganese loading in the brain, but started to hyper-accumulate manganese within 3 weeks after birth. We demonstrated that decreasing manganese intake in Zip14−/− mice was effective in preventing manganese overload that typically occurs in these animals. Our results provide important insight into future studies that are targeted to reduce the onset of manganese accumulation associated with ZIP14 dysfunction in humans.


2007 ◽  
Vol 04 (03) ◽  
pp. 507-528 ◽  
Author(s):  
DANIEL P. FERRIS ◽  
GREGORY S. SAWICKI ◽  
MONICA A. DALEY

Technological advances in robotic hardware and software have enabled powered exoskeletons to move from science fiction to the real world. The objective of this article is to emphasize two main points for future research. First, the design of future devices could be improved by exploiting biomechanical principles of animal locomotion. Two goals in exoskeleton research could particularly benefit from additional physiological perspective: (i) reduction in the metabolic energy expenditure of the user while wearing the device, and (ii) minimization of the power requirements for actuating the exoskeleton. Second, a reciprocal potential exists for robotic exoskeletons to advance our understanding of human locomotor physiology. Experimental data from humans walking and running with robotic exoskeletons could provide important insight into the metabolic cost of locomotion that is impossible to gain with other methods. Given the mutual benefits of collaboration, it is imperative that engineers and physiologists work together in future studies on robotic exoskeletons for human locomotion.


Scientifica ◽  
2014 ◽  
Vol 2014 ◽  
pp. 1-13 ◽  
Author(s):  
Inger Kjær

Human eruption is a unique developmental process in the organism. The aetiology or the mechanism behind eruption has never been fully understood and the scientific literature in the field is extremely sparse. Human and animal tissues provide different possibilities for eruption analyses, briefly discussed in the introduction. Human studies, mainly clinical and radiological, have focused on normal eruption and gender differences. Why a tooth begins eruption and what enables it to move eruptively and later to end these eruptive movements is not known. Pathological eruption courses contribute to insight into the aetiology behind eruption. A new theory on the eruption mechanism is presented. Accordingly, the mechanism of eruption depends on the correlation between space in the eruption course, created by the crown follicle, eruption pressure triggered by innervation in the apical root membrane, and the ability of the periodontal ligament to adapt to eruptive movements. Animal studies and studies on normal and pathological eruption in humans can support and explain different aspects in the new theory. The eruption mechanism still needs elucidation and the paper recommends that future research on eruption keeps this new theory in mind. Understanding the aetiology of the eruption process is necessary for treating deviant eruption courses.


2013 ◽  
Vol 12 (5) ◽  
pp. 641-664 ◽  
Author(s):  
Mohamed Salama ◽  
Ti-Fei Yuan ◽  
Sergio Machado ◽  
Eric Murillo-Rodriguez ◽  
Jose Vega ◽  
...  

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Manan Binth Taj Noor ◽  
Nusrat Zerin Zenia ◽  
M Shamim Kaiser ◽  
Shamim Al Mamun ◽  
Mufti Mahmud

Abstract Neuroimaging, in particular magnetic resonance imaging (MRI), has been playing an important role in understanding brain functionalities and its disorders during the last couple of decades. These cutting-edge MRI scans, supported by high-performance computational tools and novel ML techniques, have opened up possibilities to unprecedentedly identify neurological disorders. However, similarities in disease phenotypes make it very difficult to detect such disorders accurately from the acquired neuroimaging data. This article critically examines and compares performances of the existing deep learning (DL)-based methods to detect neurological disorders—focusing on Alzheimer’s disease, Parkinson’s disease and schizophrenia—from MRI data acquired using different modalities including functional and structural MRI. The comparative performance analysis of various DL architectures across different disorders and imaging modalities suggests that the Convolutional Neural Network outperforms other methods in detecting neurological disorders. Towards the end, a number of current research challenges are indicated and some possible future research directions are provided.


2021 ◽  
Vol 54 (7) ◽  
pp. 1-39
Author(s):  
Ankur Lohachab ◽  
Saurabh Garg ◽  
Byeong Kang ◽  
Muhammad Bilal Amin ◽  
Junmin Lee ◽  
...  

Unprecedented attention towards blockchain technology is serving as a game-changer in fostering the development of blockchain-enabled distinctive frameworks. However, fragmentation unleashed by its underlying concepts hinders different stakeholders from effectively utilizing blockchain-supported services, resulting in the obstruction of its wide-scale adoption. To explore synergies among the isolated frameworks requires comprehensively studying inter-blockchain communication approaches. These approaches broadly come under the umbrella of Blockchain Interoperability (BI) notion, as it can facilitate a novel paradigm of an integrated blockchain ecosystem that connects state-of-the-art disparate blockchains. Currently, there is a lack of studies that comprehensively review BI, which works as a stumbling block in its development. Therefore, this article aims to articulate potential of BI by reviewing it from diverse perspectives. Beginning with a glance of blockchain architecture fundamentals, this article discusses its associated platforms, taxonomy, and consensus mechanisms. Subsequently, it argues about BI’s requirement by exemplifying its potential opportunities and application areas. Concerning BI, an architecture seems to be a missing link. Hence, this article introduces a layered architecture for the effective development of protocols and methods for interoperable blockchains. Furthermore, this article proposes an in-depth BI research taxonomy and provides an insight into the state-of-the-art projects. Finally, it determines possible open challenges and future research in the domain.


2021 ◽  
Vol 54 (3) ◽  
pp. 1-28
Author(s):  
Jun Huang ◽  
Debiao He ◽  
Mohammad S. Obaidat ◽  
Pandi Vijayakumar ◽  
Min Luo ◽  
...  

Voting is a formal expression of opinion or choice, either positive or negative, made by an individual or a group of individuals. However, conventional voting systems tend to be centralized, which are known to suffer from security and efficiency limitations. Hence, there has been a trend of moving to decentralized voting systems, such as those based on blockchain. The latter is a decentralized digital ledger in a peer-to-peer network, where a copy of the append-only ledger of digitally signed and encrypted transactions is maintained by each participant. Therefore, in this article, we perform a comprehensive review of blockchain-based voting systems and classify them based on a number of features (e.g., the types of blockchain used, the consensus approaches used, and the scale of participants). By systematically analyzing and comparing the different blockchain-based voting systems, we also identify a number of limitations and research opportunities. Hopefully, this survey will provide an in-depth insight into the potential utility of blockchain in voting systems and device future research agenda.


2007 ◽  
Vol 2 (2) ◽  
pp. 61-73 ◽  
Author(s):  
Sally Rao ◽  
Indrit Troshani

Mobile services are heralded to create a tremendous spectrum of business opportunities. User acceptance of these services is of paramount importance. Consequently, a deeper insight into theory-based research is required to better understand the underlying motivations that lead users to adopting mobile services. As mobile services bring additional functional dimensions, including hedonic and experiential aspects, using extant models for predicting mobile services acceptance by individuals may be inadequate. The aim of this paper is to explore, analyse and critically assess the use of existing acceptance theories in the light of the evolving and ubiquitous mobile services and their underlying technologies. Constructs affecting consumer adoption behaviour are discussed and relevant propositions are made. Managerial implications are explored and future research directions are also identified.


2021 ◽  
pp. 004912412098618
Author(s):  
Tim de Leeuw ◽  
Steffen Keijl

Although multiple organizational-level databases are frequently combined into one data set, there is no overview of the matching methods (MMs) that are utilized because the vast majority of studies does not report how this was done. Furthermore, it is unclear what the differences are between the utilized methods, and it is unclear whether research findings might be influenced by the utilized method. This article describes four commonly used methods for matching databases and potential issues. An empirical comparison of those methods used to combine regularly used organizational-level databases reveals large differences in the number of observations obtained. Furthermore, empirical analyses of these different methods reveal that several of them produce both systematic and random errors. These errors can result in erroneous estimations of regression coefficients in terms of direction and/or size as well as an issue where truly significant relationships might be found to be insignificant. This shows that research findings can be influenced by the MM used, which would argue in favor of the establishment of a preferred method as well as more transparency on the utilized method in future studies. This article provides insight into the matching process and methods, suggests a preferred method, and should aid researchers, reviewers, and editors with both combining multiple databases and describing and assessing them.


2021 ◽  
Vol 74 (4) ◽  
pp. 308-317
Author(s):  
Christian Breternitz

The article outlines the significance of Prussian military music of the 19th and early 20th centuries in an international context. It focuses on deliveries of musical instruments and sheet music by the Berlin company C. W. Moritz to Central and South America around 1900. The delivery lists of 1897/98 for the Colombian military bands show that they were equipped according to the Prussian model, which goes back to the ideas of Wilhelm Wieprecht. He reformed and standardised the Prussian military music system between the 1830s and 1860s, thus creating the basis for its success. The sheet music enclosed with the musical instruments gives an insight into the popular musical taste of the period around 1900, which was increasingly introduced to Central and South America. Future research will ask what impact such imports of music and musical instruments had on the development of music in Central and South America. (Vorlage)


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