scholarly journals The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes

2021 ◽  
Vol 22 (15) ◽  
pp. 8100
Author(s):  
Monica Diez-Fairen ◽  
Pilar Alvarez Jerez ◽  
Joos Berghausen ◽  
Sara Bandres-Ciga
Keyword(s):  
Genetic Research ◽  
Corticobasal Degeneration ◽  
Rapid Onset ◽  
Atypical Parkinsonism ◽  
Future Directions ◽  
Genetics Research ◽  
Wide Range ◽  
Genetic Landscape ◽  
Myoclonus Dystonia ◽  
Hand Dystonia

In recent decades, genetic research has nominated promising pathways and biological insights contributing to the etiological landscape of parkinsonism-related dystonias and atypical parkinsonism-related syndromes. Several disease-causing mutations and genetic risk factors have been unraveled, providing a deeper molecular understanding of the complex genetic architecture underlying these conditions. These disorders are difficult to accurately diagnose and categorize, thus making genetics research challenging. On one hand, dystonia is an umbrella term linked to clinically heterogeneous forms of disease including dopa-responsive dystonia, myoclonus-dystonia, rapid-onset dystonia-parkinsonism and dystonia-parkinsonism, often viewed as a precursor to Parkinson’s disease. On the other hand, atypical parkinsonism disorders, such as progressive supranuclear palsy, multiple system atrophy and corticobasal degeneration, are rare in nature and represent a wide range of diverse and overlapping phenotypic variabilities, with genetic research limited by sample size availability. The current review summarizes the plethora of available genetic information for these diseases, outlining limits and future directions.

scholarly journals Clinical features of dystonia in atypical parkinsonism

2008 ◽  
Vol 66 (4) ◽  
pp. 800-804 ◽  
Author(s):  
Clecio Godeiro-Junior ◽  
Andre C. Felício ◽  
Orlando G.P. Barsottini ◽  
Patricia M. de Carvalho Aguiar ◽  
Sonia M.A. Silva ◽  
...  
Keyword(s):  
Clinical Features ◽  
Disease Duration ◽  
Age At Onset ◽  
Disease Onset ◽  
Corticobasal Degeneration ◽  
Atypical Parkinsonism ◽  
Resonance Imaging ◽  
Yahr Scale ◽  
Few Data ◽  
Hand Dystonia

BACKGROUND: The association between Dystonia and Parkinson's disease (PD) has been well described especially for foot and hand dystonia. There is however few data on dystonic postures in patients with atypical parkinsonism. OBJECTIVE: To evaluate the frequency and pattern of dystonia in a group of patients with atypical parkinsonism (multiple system atrophy - MSA, progressive supranuclear palsy - PSP, and corticobasal degeneration - CBD) and to investigate whether dystonia could be the first presenting symptom at disease onset in those patients. METHOD: A total of 38 medical charts were reviewed (n=23/MSA group; n=7/CBD group; n=8/PSP group) and data values were described as means/standard deviations. The variables evaluated were sex, age at onset, disease duration, first symptom, clinical features of dystonia and other neurological signs, response to levodopatherapy, Hoehn&Yahr scale >3 after three years of disease, and magnetic resonance imaging findings. RESULTS: The overall frequency of dystonia in our sample was 50% with 30.4% (n=7) in the MSA group, 62.5% (n=5) in the PSP group, and 100% (n=8) in the CBD group. In none of these patients, dystonia was the first complaint. Several types of dystonia were found: camptocormia, retrocollis, anterocollis, blepharoespasm, oromandibular, and foot/hand dystonia. CONCLUSION: In our series, dystonia was a common feature in atypical parkinsonism (overall frequency of 50%) and it was part of the natural history although not the first symptom at disease onset. Neuroimaging abnormalities are not necessarily related to focal dystonia, and levodopa therapy did not influence the pattern of dystonia in our group of patients.

scholarly journals Return of Results in a Global Sample of Psychiatric Genetics Researchers: Practices, Attitudes, and Knowledge

2020 ◽  
Author(s):  
Gabriel Lázaro-Muñoz ◽  
Laura Torgerson ◽  
Stacey Pereira
Keyword(s):  
Genetic Research ◽  
Risk Scores ◽  
Return Of Results ◽  
Psychiatric Genetics ◽  
Genetics Research ◽  
Adequate Knowledge ◽  
Increased Risk ◽  
Wide Range ◽  
Psychosocial Impacts ◽  
Attitudes And Knowledge

AbstractPurposePatient-participants in psychiatric genetics research may be at an increased risk for negative psychosocial impacts related to the return of genetic research results. Examining psychiatric genetics researchers’ return of results practices and perspectives can aid the development of empirically-informed and ethically-sound guidelines.MethodsA survey of 407 psychiatric genetics researchers from 39 countries was conducted to examine current return of results practices, attitudes, and knowledge.ResultsMost respondents (61%) reported that their studies generated medically relevant genomic findings. Although 24% have returned results to individual participants, 52% of those involved in decisions about return of results plan to return or continue to return results. Respondents supported offering medically actionable results related to psychiatric disorders (82%), and the majority agreed non-medically actionable risks for Huntington’s (71%) and Alzheimer’s disease (64%) should be offered. About half (49%) of respondents supported offering reliable polygenic risk scores for psychiatric conditions. Despite plans to return, only 14% of researchers agreed there are adequate guidelines for returning results, and 59% rated their knowledge about how to manage the process for returning results as poor.ConclusionPsychiatric genetics researchers support returning a wide range of results to patient-participants, but they lack adequate knowledge and guidelines.

History of the Study of Apocrypha in Early Medieval England

2020 ◽  
Vol 48 (3-4) ◽  
pp. 13-26
Author(s):  
Brandon W. Hawk
Keyword(s):  
Old Testament ◽  
Medieval England ◽  
Medieval Period ◽  
Early Medieval ◽  
Future Directions ◽  
Early Judaism ◽  
Wide Range ◽  
History Of ◽  
The Subject ◽  
Early English

Literature written in England between about 500 and 1100 CE attests to a wide range of traditions, although it is clear that Christian sources were the most influential. Biblical apocrypha feature prominently across this corpus of literature, as early English authors clearly relied on a range of extra-biblical texts and traditions related to works under the umbrella of what have been called “Old Testament Pseudepigrapha” and “New Testament/Christian Apocrypha." While scholars of pseudepigrapha and apocrypha have long trained their eyes upon literature from the first few centuries of early Judaism and early Christianity, the medieval period has much to offer. This article presents a survey of significant developments and key threads in the history of scholarship on apocrypha in early medieval England. My purpose is not to offer a comprehensive bibliography, but to highlight major studies that have focused on the transmission of specific apocrypha, contributed to knowledge about medieval uses of apocrypha, and shaped the field from the nineteenth century up to the present. Bringing together major publications on the subject presents a striking picture of the state of the field as well as future directions.

A review on aversive Pavlovian-to-Instrumental transfer in humans

2020 ◽  
Author(s):  
Anna Gerlicher ◽  
Merel Kindt
Keyword(s):  
Avoidance Behavior ◽  
Neural Circuits ◽  
Transfer Effects ◽  
Future Directions ◽  
Transfer Paradigm ◽  
Wide Range ◽  
Threat Cues ◽  
Imminent Threat ◽  
Fear And Anxiety ◽  
Pathological Anxiety

A cue that indicates imminent threat elicits a wide range of physiological, hormonal, autonomic, cognitive, and emotional fear responses in humans and facilitates threat-specific avoidance behavior. The occurrence of a threat cue can, however, also have general motivational effects and affect behavior. That is, the encounter with a threat cue can increase our tendency to engage in general avoidance behavior that does neither terminate nor prevent the threat-cue or the threat itself. Furthermore, the encounter with a threat-cue can substantially reduce our likelihood to engage in behavior that leads to rewarding outcomes. Such general motivational effects of threat-cues on behavior can be informative about the transition from normal to pathological anxiety and could also explain the development of comorbid disorders, such as depression and substance abuse. Despite the unmistakable relevance of the motivational effects of threat for our understanding of anxiety disorders, their investigation is still in its infancy. Pavlovian-to-Instrumental transfer is one paradigm that allows us to investigate such motivational effects of threat cues. Here, we review studies investigating aversive transfer in humans and discuss recent results on the neural circuits mediating Pavlovian-to-Instrumental transfer effects. Finally, we discuss potential limitations of the transfer paradigm and future directions for employing Pavlovian-to-Instrumental transfer for the investigation of motivational effects of fear and anxiety.

Automatic Vulnerability Detection in Embedded Devices and Firmware

2021 ◽  
Vol 54 (2) ◽  
pp. 1-42
Author(s):  
Abdullah Qasem ◽  
Paria Shirani ◽  
Mourad Debbabi ◽  
Lingyu Wang ◽  
Bernard Lebel ◽  
...  
Keyword(s):  
Embedded Systems ◽  
Symbolic Execution ◽  
Vital Role ◽  
Security And Privacy ◽  
Embedded Devices ◽  
Security Vulnerabilities ◽  
Future Directions ◽  
Hybrid Approaches ◽  
Wide Range ◽  
The Internet Of Things

In the era of the internet of things (IoT), software-enabled inter-connected devices are of paramount importance. The embedded systems are very frequently used in both security and privacy-sensitive applications. However, the underlying software (a.k.a. firmware) very often suffers from a wide range of security vulnerabilities, mainly due to their outdated systems or reusing existing vulnerable libraries; which is evident by the surprising rise in the number of attacks against embedded systems. Therefore, to protect those embedded systems, detecting the presence of vulnerabilities in the large pool of embedded devices and their firmware plays a vital role. To this end, there exist several approaches to identify and trigger potential vulnerabilities within deployed embedded systems firmware. In this survey, we provide a comprehensive review of the state-of-the-art proposals, which detect vulnerabilities in embedded systems and firmware images by employing various analysis techniques, including static analysis, dynamic analysis, symbolic execution, and hybrid approaches. Furthermore, we perform both quantitative and qualitative comparisons among the surveyed approaches. Moreover, we devise taxonomies based on the applications of those approaches, the features used in the literature, and the type of the analysis. Finally, we identify the unresolved challenges and discuss possible future directions in this field of research.

scholarly journals A Comparative Study of Target Tracking Approaches in Wireless Sensor Networks

2016 ◽  
Vol 2016 ◽  
pp. 1-11 ◽  
Author(s):  
Asmaa Ez-Zaidi ◽  
Said Rakrak
Keyword(s):  
Wireless Sensor Networks ◽  
Sensor Networks ◽  
Target Tracking ◽  
Sensor Nodes ◽  
Wireless Sensor ◽  
Future Directions ◽  
Wide Range ◽  
Comprehensive Survey ◽  
The Subject ◽  
Intense Research

Wireless sensor networks have been the subject of intense research in recent years. Sensor nodes are used in wide range of applications such as security, military, and environmental monitoring. One of the most interesting applications in wireless sensor networks is target tracking, which mainly consists in detecting and monitoring the motion of mobile targets. In this paper, we present a comprehensive survey of target tracking approaches. We then analyze them according to several metrics. We also discuss some of the challenges that influence the performance of tracking schemes. In the end, we conduct detailed analysis and comparison between these algorithms and we conclude with some future directions.

RELATIONSHIP IN IOT AND BIG DATA ANALYTICS: THE OPPORTUNITIES AND OPEN CHALLENGES

2021 ◽  
Vol 83 (4) ◽  
pp. 100-111
Author(s):  
Ahmad Anwar Zainuddin ◽  
Keyword(s):  
Big Data ◽  
Internet Of Things ◽  
Data Analytics ◽  
Big Data Analytics ◽  
Physical World ◽  
Future Directions ◽  
Wide Range ◽  
Time Utilization ◽  
Relationship Of ◽  
The Internet Of Things

Internet of Things (IoT) is an up-and-coming technology that has a wide variety of applications. It empowers physical objects to be organized in a specialized framework to grow its convenience in terms of ease and time utilization. It is to convert the thought of bridging the crevice between the physical world and the machine world. It is also being use in the wide range of the technology in this current situation. One of its applications is to monitor and store data over time from numerous devices allows for easy analysis of the dataset. This analysis can then be the basis of decisions made on the same. In this study, the concept, architecture, and relationship of IoT and Big Data are described. Next, several use cases in IoT and big data in the research methodology are studied. The opportunities and open challenges which including the future directions are described. Furthermore, by proposing a new architecture for big data analytics in the Internet of Things, this paper adds value. Overall, the various types of big IoT data analytics, their methods, and associated big data mining technologies are discussed.

scholarly journals Insights into Dyslexia Genetics Research from the Last Two Decades

2021 ◽  
Vol 12 (1) ◽  
pp. 27
Author(s):  
Florina Erbeli ◽  
Marianne Rice ◽  
Silvia Paracchini
Keyword(s):  
Language Disorder ◽  
Association Studies ◽  
Neurodevelopmental Disorder ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Twin Studies ◽  
Genome Wide Association Studies ◽  
Genetics Research ◽  
Genome Wide ◽  
Genetic Risks

Dyslexia, a specific reading disability, is a common (up to 10% of children) and highly heritable (~70%) neurodevelopmental disorder. Behavioral and molecular genetic approaches are aimed towards dissecting its significant genetic component. In the proposed review, we will summarize advances in twin and molecular genetic research from the past 20 years. First, we will briefly outline the clinical and educational presentation and epidemiology of dyslexia. Next, we will summarize results from twin studies, followed by molecular genetic research (e.g., genome-wide association studies (GWASs)). In particular, we will highlight converging key insights from genetic research. (1) Dyslexia is a highly polygenic neurodevelopmental disorder with a complex genetic architecture. (2) Dyslexia categories share a large proportion of genetics with continuously distributed measures of reading skills, with shared genetic risks also seen across development. (3) Dyslexia genetic risks are shared with those implicated in many other neurodevelopmental disorders (e.g., developmental language disorder and dyscalculia). Finally, we will discuss the implications and future directions. As the diversity of genetic studies continues to increase through international collaborate efforts, we will highlight the challenges in advances of genetics discoveries in this field.

scholarly journals The role of airborne volcanic ash for the surface ocean biogeochemical iron-cycle: a review

2009 ◽  
Vol 6 (4) ◽  
pp. 6441-6489 ◽  
Author(s):  
S. Duggen ◽  
N. Olgun ◽  
P. Croot ◽  
L. Hoffmann ◽  
H. Dietze ◽  
...  
Keyword(s):  
Large Scale ◽  
Volcanic Ash ◽  
Volcanic Eruptions ◽  
Research Field ◽  
Ash Deposition ◽  
Future Directions ◽  
Iron Cycle ◽  
Surface Ocean ◽  
Wide Range

Abstract. Iron is a key micronutrient for phytoplankton growth in the surface ocean. Yet the significance of volcanism for the marine biogeochemical iron-cycle is poorly constrained. Recent studies, however, suggest that offshore deposition of airborne ash from volcanic eruptions is a way to inject significant amounts of bio-available iron into the surface ocean. Volcanic ash may be transported up to several tens of kilometres high into the atmosphere during large-scale eruptions and fine ash may encircle the globe for years, thereby reaching even the remotest and most iron-starved oceanic areas. Scientific ocean drilling demonstrates that volcanic ash layers and dispersed ash particles are frequently found in marine sediments and that therefore volcanic ash deposition and iron-injection into the oceans took place throughout much of the Earth's history. The data from geochemical and biological experiments, natural evidence and satellite techniques now available suggest that volcanic ash is a so far underestimated source for iron in the surface ocean, possibly of similar importance as aeolian dust. Here we summarise the development of and the knowledge in this fairly young research field. The paper covers a wide range of chemical and biological issues and we make recommendations for future directions in these areas. The review paper may thus be helpful to improve our understanding of the role of volcanic ash for the marine biogeochemical iron-cycle, marine primary productivity and the ocean-atmosphere exchange of CO2 and other gases relevant for climate throughout the Earth's history.

scholarly journals Occurrence of the amphibians in the Volga, Don River basins and adjacent territories (Russia): research in 1996-2020

2020 ◽  
Vol 8 ◽  
Author(s):  
Alexander Ruchin ◽  
Oleg Artaev ◽  
Elvira Sharapova ◽  
Oleg Ermakov ◽  
Renat Zamaletdinov ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Genetic Research ◽  
Russian Plain ◽  
Amphibian Species ◽  
Volga River ◽  
Wide Range ◽  
Don River ◽  
Global Biodiversity ◽  
Single Standard ◽  
Living Organisms

Knowledge about the distribution of living organisms on Earth is very important for many areas of biological science and understanding of the surrounding world. However, much of the existing distributional data are scattered throughout a multitude of sources, such as taxonomic publications, checklists and natural history collections and often, bringing them together is difficult. A very successful attempt to solve this problem is the GBIF project, which allows a huge number of researchers to publish data in one place in a single standard. Our dataset represents a significant addition to the occurrences of amphibians in the Volga, Don riverine basins and adjacent territories. The dataset contains up-to-date information on amphibian occurrences in the Volga river basin and adjacent territories, located for the most part on the Russian plain of European Russia. The dataset is based on our own studies that were conducted in the years 1996-2020. The dataset consists of 5,030 incident records, all linked to geographical coordinates. A total of 13 amphibian species belonging to nine genera and six families have been registered within the studied territory, although the distribution of amphibian species in this region of Russia has not yet been fully studied. This is especially relevant with the spread of cryptic species that can only be identified using molecular genetic research methods. The main purpose of publishing a database is to make our data available in the global biodiversity system to a wide range of users. The data can be used by researchers, as well as helping the authorities to manage their territory more efficiently. All occurrences are published in GBIF for the first time. Most of the data are stored in field diaries and we would like to make it available to everyone by adding it in the global biodiversity database (GBIF).

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