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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.
Price: 17.00 £ | Shipping*: 3.99 £ -
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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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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Which kitchen appliances have a long lifespan, such as mixers, etc.?
Kitchen appliances that typically have a long lifespan include mixers, food processors, and high-quality blenders. These appliances are built to withstand frequent use and are often made with durable materials that can last for many years. Investing in well-known brands and models known for their longevity can also help ensure that these appliances have a longer lifespan. Regular maintenance and proper care, such as cleaning and storage, can also contribute to extending the lifespan of these kitchen appliances.
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Which kitchen appliances also have a long lifespan, such as mixers, etc.?
Kitchen appliances such as mixers, blenders, and food processors are known for their long lifespan. These appliances are designed to withstand heavy use and are built with durable materials, making them reliable for many years. Additionally, high-quality brands and models of these appliances are often built to last, making them a worthwhile investment for any kitchen. Regular maintenance and proper care can also help extend the lifespan of these appliances.
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How are McDonald's and kitchen shoes related?
McDonald's and kitchen shoes are related in the sense that both are essential components of a fast-paced kitchen environment. Kitchen shoes are designed to provide comfort, support, and slip-resistance for workers who spend long hours on their feet in a kitchen setting, while McDonald's is a fast-food restaurant chain that operates in a high-traffic, fast-paced environment. Both are crucial for ensuring the safety and efficiency of kitchen staff, as well as the overall quality of the food and service provided.
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What are the kitchen-related properties of gluten?
Gluten is a protein found in wheat, barley, and rye that gives dough its elasticity and helps it rise. In the kitchen, gluten is important for creating the structure and texture of baked goods like bread, cakes, and pastries. It provides the necessary strength and elasticity to hold in the gases produced by yeast or baking powder, resulting in a light and airy texture. However, for individuals with gluten sensitivities or celiac disease, gluten can cause digestive issues, so it's important to be mindful of its presence in cooking and baking.
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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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Oncology Treatment-Related Cardiotoxicity
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Electric Juicer Blenders for kitchen Fruit Mixers Multifunction Machine Liquidificador portatil home
Electric Juicer Blenders for kitchen Fruit Mixers Multifunction Machine Liquidificador portatil home
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Scour Manual : Current-Related Erosion
Ever since the publication in 1997 the original Scour Manual has helped many practising hydraulic engineers to deal with scour processes near hydraulic structures.In recent years new insights, such as probabilistic calculations, offered new opportunities to design structures more economically.These new insights are included in this update of the original Scour Manual, which is focussing entirely on current-related scour.This manual provides the engineer with useful practical methods to calculate the dimensions of scour holes in the pre-feasibility and preliminary stages of a project, and gives an introduction to the most relevant literature.This updated Scour Manual contains guidelines that can be used to solve problems related to scour in engineering practice and also reflects the main results of all research projects in the Netherlands in recent decades.The so-called Breusers equilibrium method has a central role, which can basically be applied to all situations where local scour is expected.The method allows to predict the scour depth as a function of time, provided that the available knowledge about scour at the specific structure is sufficient.For structures with insufficient knowledge available, alternative scour prediction rules are presented.The treatment of local scour is classified according to the different types of structures.Each type of structure is necessarily schematised to a simple, basic layout.The main parameters of a structure and the main parts of the flow pattern near a structure are described briefly insofar they are relevant to the description of scour phenomena.New scour formulas for the equilibrium scour have been elucidated.Evaluating a balance of forces for a control volume, it is possible to develop scour equations for different types of flow fields and structures, i.e. jets, abutments and bridge piers. As many scour problems are still not fully understood, attention is paid to the validity ranges and limitations of the formulas, as well as to the accuracy of the scour predictions.This information can also be used to carry out a risk assessment using a safety philosophy based on a probabilistic analysis or an approach with a safety factor.Moreover, the information on the strength of soils is extended and aspects are addressed such as scour due to shear failures or flow slides, that can progressively damage the bed protection which might lead to the failure of hydraulic structures. This updated Scour Manual presents scour prediction methods and deals with practically related scour problems.Consultants and contractors were invited to provide case studies of realized projects, including the methods that were followed.These case studies will help with grasping the concept of scour by the flow of water.This manual provides the engineer with the latest knowledge and with case studies that show how to apply the formulas and their limitations.
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Which animes are related to cooking, ramen, sushi, etc.?
Some animes related to cooking, ramen, sushi, etc. include "Food Wars! Shokugeki no Soma," which follows a young chef as he attends a prestigious culinary school, "Sweetness and Lightning," which focuses on a single father learning to cook for his daughter, and "Naruto," which features a character who loves ramen. These animes showcase the art of cooking and food culture in various ways, making them popular among food enthusiasts and anime fans alike.
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What are Juno kitchen appliances?
Juno kitchen appliances are a line of high-quality kitchen products designed to make cooking and food preparation easier and more efficient. They include a range of appliances such as refrigerators, ovens, cooktops, dishwashers, and more. Juno appliances are known for their sleek design, innovative features, and reliable performance, making them a popular choice for home cooks and professional chefs alike.
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Which topics related to the subject of kitchen would interest you?
I am interested in topics related to kitchen organization and storage solutions, as well as innovative kitchen gadgets and appliances that can make cooking more efficient and enjoyable. I am also interested in learning about different cooking techniques and recipes from various cuisines around the world. Additionally, I am curious about sustainable practices in the kitchen, such as reducing food waste and using eco-friendly products.
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Which topics related to the topic of kitchen would interest you?
I would be interested in topics related to kitchen organization and storage solutions, as well as tips and tricks for meal planning and preparation. Additionally, I would like to learn more about kitchen gadgets and appliances that can make cooking more efficient and enjoyable. Exploring different cuisines and cooking techniques would also be of interest to me.
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