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SCN2A-Related Disorders
SCN2A encodes a voltage-gated sodium channel (designated NaV1.2) vital for generating neuronal action potentials.Pathogenic SCN2A variants are associated with a diverse array of neurodevelopmental disorders featuring neonatal or infantile onset epilepsy, developmental delay, autism, intellectual disability and movement disorders.SCN2A is a high confidence risk gene for autism spectrum disorder and a commonly discovered cause of neonatal onset epilepsy.This remarkable clinical heterogeneity is mirrored by extensive allelic heterogeneity and complex genotype-phenotype relationships partially explained by divergent functional consequences of pathogenic variants.Emerging therapeutic strategies targeted to specific patterns of NaV1.2 dysfunction offer hope to improving the lives of individuals affected by SCN2A-related disorders.This Element provides a review of the clinical features, genetic basis, pathophysiology, pharmacology and treatment of these genetic conditions authored by leading experts in the field and accompanied by perspectives shared by affected families. This title is also available as Open Access on Cambridge Core.
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SCN2A-Related Disorders
SCN2A encodes a voltage-gated sodium channel (designated NaV1.2) vital for generating neuronal action potentials.Pathogenic SCN2A variants are associated with a diverse array of neurodevelopmental disorders featuring neonatal or infantile onset epilepsy, developmental delay, autism, intellectual disability and movement disorders.SCN2A is a high confidence risk gene for autism spectrum disorder and a commonly discovered cause of neonatal onset epilepsy.This remarkable clinical heterogeneity is mirrored by extensive allelic heterogeneity and complex genotype-phenotype relationships partially explained by divergent functional consequences of pathogenic variants.Emerging therapeutic strategies targeted to specific patterns of NaV1.2 dysfunction offer hope to improving the lives of individuals affected by SCN2A-related disorders.This Element provides a review of the clinical features, genetic basis, pathophysiology, pharmacology and treatment of these genetic conditions authored by leading experts in the field and accompanied by perspectives shared by affected families. This title is also available as Open Access on Cambridge Core.
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Food-Related Stories
“Gaby Melian tells so many stories through her relationship with food—about love, about loss, about hard work, and about finding her passion.The pages are dripping with delicious smells and tastes, and will give you a new way to look at both cooking and what it means to have a plan.” —Molly Birnbaum, editor in chief, America’s Test Kitchen KidsIn this moving, personal account, chef and activist Gaby Melian shares her journey with food and how creating a relationship with food -- however simple or complicated -- is a form of activism in its own right. Pocket Change Collective was born out of a need for space.Space to think. Space to connect. Space to be yourself. And this is your invitation to join us. This is a series of small books with big ideas from today's leading activists and artists. "Food rescued me so many other times -- not only because I sold food to survive.I cook to entertain; I cook to be liked; I cook to be loved." In this installment, chef and activist Gaby Melian shares her personal journey with food -- from growing up in Argentina to her time as a Jersey City street vendor and later, as Bon Appetit's test kitchen manager.Powerful and full of heart, here, Melian explores how we can develop a relationship with food that's healthy, sustainable, and thoughtful.
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Human Factors in Engineering : Manufacturing Systems, Automation, and Interactions
This book addresses aspects of human factors in engineering and provides a detailed discussion of novel approaches, systems engineering tools, artificial cognitive systems, and intelligent technologies and automation.It presents applications in diverse areas, including digital manufacturing, transportation, infrastructure development, and cybersecurity. This book:• Merges the engineering perspective with the human factors and social dimension of computing and artificial intelligence–based technologies. • Covers technological development of human factors engineering and the human dimension in applications across all areas of modern society. • Relates to human behavior in the context of technology and systems interactions. • Discusses the design and the appropriation of 3D printing techniques in the management of an innovative product system. • Presents systems engineering tools, user experience methodologies, artificial cognitive systems, intelligent technologies, and automation. The text is for students, professionals, and researchers in the fields of ergonomics, human factors, industrial engineering, and manufacturing engineering.
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Which operating system-related software is faulty?
The operating system-related software that is faulty is the device driver. Device drivers are software programs that allow the operating system to communicate with hardware devices such as printers, graphics cards, and storage devices. When a device driver is faulty, it can cause issues such as system crashes, hardware malfunctions, and performance problems. It is important to keep device drivers updated to ensure the smooth functioning of the operating system and connected hardware devices.
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How do you calculate something related to automotive engineering?
To calculate something related to automotive engineering, you would typically start by gathering the necessary data such as vehicle specifications, performance parameters, and environmental conditions. Then, you would apply relevant engineering principles and formulas to analyze the data and solve the problem at hand. This could involve calculations for vehicle dynamics, engine performance, aerodynamics, fuel efficiency, or structural integrity, among other things. It's important to use accurate and up-to-date information, as well as appropriate mathematical and computational tools to ensure the calculations are reliable and meaningful for automotive engineering applications.
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What are possible causes of internet problems related to hardware?
Possible causes of internet problems related to hardware could include faulty network cables, damaged or outdated network adapters, malfunctioning routers or modems, and issues with the physical connections between devices. Additionally, outdated or incompatible hardware drivers can also lead to internet connectivity issues. These hardware-related problems can result in slow or intermittent internet connections, or even complete loss of connectivity. Regular maintenance and updating of hardware components can help prevent these issues.
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Could you please provide thermal tasks related to electrical engineering?
Sure! Some thermal tasks related to electrical engineering include designing cooling systems for electronic components to prevent overheating, analyzing the thermal performance of power distribution systems to ensure efficiency, and conducting thermal simulations to optimize the thermal management of electrical devices. Additionally, troubleshooting thermal issues in electrical systems and implementing thermal insulation techniques to improve energy efficiency are also common tasks in this field.
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Oncology Treatment-Related Cardiotoxicity
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Age-Related Macular Degeneration
The value of Age-Related Macular Degeneration has stood the test of time, but progress in both basic and clinical ophthalmology has been relentless, mandating the need for an updated book.This second edition focuses on the pathophysiology and the epidemiology of age-related macular degeneration (AMD), the clinical features and management of dry and wet AMD, imaging techniques, and medical therapy for both non-neovascular AMD and neovascular AMD.It describes both clinically validated and experimental therapies as well as rehabilitation technology, and presents strategies to prevent the progression of non-exudative AMD.Results from current clinical trials are also included. New chapters in this edition cover: Genetics and treatmentOxidative stress and its relation to the pathophysiology of AMD and CNV (choroidal neovascularization—a common symptom of wet AMD)Polypoidal choroidal vasculopathy Microperimetry and psychophysical testing and ways to track geographic atrophy progression Non-VEGF pathways Retinal stem cells
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Age-Related Macular Degeneration
Age-Related Macular Degeneration (AMD) offers a consolidated view of a complex disorder by summarizing the latest evidence-based studies and translating their findings into practical, actionable knowledge.This concise resource covers the fundamentals of AMD diagnosis and treatment.It operates under a modern definition of AMD which acknowledges the range of presentations that ophthalmologists see in practice.Offering practical, clinical guidance in addition to capturing new therapeutic approaches in the pipeline, this book is an essential reference for ophthalmologists, optometrists, and researchers. . Takes a concise yet comprehensive approach to AMD, covering both basic science and clinical guidance. . Features clinical guidelines on the diagnosis and treatment of AMD, including classification, signs/symptoms, imaging, and differential diagnosis in the pre-optical coherence tomography (OCT) and modern OCT eras. . Presents up-to-date information on AMD therapies currently in the development pipeline and offers insights for the future of translational research. . Explains molecular genetics and pathogenic events of AMD from both basic and clinical perspectives, which may help readers seek promising new therapeutic targets .Contains more than 112 full-color illustrations with multimodal imaging techniques that clearly demonstrate AMD pathophysiology and clinical pathology.
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Using Sequence Generator Pro and Friends : Imaging with SGP, PHD2, and Related Software
This guide is specifically aimed at those who are using—or want to use—Sequence Generator Pro.SGP is a “session management” software package that controls the telescope, mount, camera, and ancillary equipment to target and secure images during a night of imaging astronomical objects. The book begins with a special tutorial to get up and running with SGP.With a comprehensive reference section, it takes the user in detail through the various aspects of user and equipment profiles, equipment definitions, the sequencer, and other essential elements of SGP.Finally, it focuses on how to get the most out of the ancillary programs—target databases, autoguiders, plate solvers, planetarium software, and other applications. Oftentimes, technical guides can end up being far denser than the processes they intend to explain.Many of the insights provided by SGP expert Alex McConahay are beyond what can be found in the official program documentation.In this book, the reader will find in-depth, yet straightforward practical advice on how to automate nightly astroimaging sessions with Sequence Generator Pro.
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Do you need anything hardware-related on the motherboard for Ethernet?
Yes, you need a network interface controller (NIC) or Ethernet controller on the motherboard to enable Ethernet connectivity. This hardware component is responsible for managing the communication between the computer and the network, allowing for the transmission and reception of data over an Ethernet connection. Without a NIC or Ethernet controller, the motherboard would not be able to support Ethernet connectivity.
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In automation, which software is it?
In automation, the software used is typically referred to as automation software or automation tools. These tools are designed to automate repetitive tasks, streamline processes, and increase efficiency in various industries. Some popular examples of automation software include UiPath, Blue Prism, Automation Anywhere, and Selenium. These tools often use technologies such as robotic process automation (RPA) and artificial intelligence to mimic human actions and perform tasks with minimal human intervention.
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Software or hardware?
When deciding between software and hardware, it ultimately depends on the specific needs and goals of the user. Software provides flexibility, scalability, and ease of updates, making it ideal for tasks that require frequent changes or updates. On the other hand, hardware offers reliability, security, and performance for tasks that require high processing power or data storage. It is important to carefully evaluate the requirements of the project or task at hand to determine whether software or hardware is the best solution.
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'Software or hardware?'
The choice between software and hardware depends on the specific needs and goals of the user. Software provides flexibility and can be easily updated or customized, while hardware offers physical components that may be more reliable and provide better performance for certain tasks. Ultimately, the decision between software and hardware should be based on the specific requirements of the user and the intended use of the technology.
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