The purines are a group of molecules used by all cells for many vital biochemical processes including energy-requiring enzymatic reactions, cofactor-requiring reactions, synthesis of DNA or RNA, signaling pathways within and between cells, and other processes. Defects in some of the enzymes of purine metabolism are known to be associated with specific clinical disorders, and neurological problems may be a presenting sign or the predominant clinical problem for several of them. This chapter describes three disorders for which the clinical features and metabolic basis are well characterized. Deficiency of adenylosuccinate-lyase (ADSL) causes psychomotor retardation, epilepsy, and autistic features. Lesch–Nyhan disease is caused by deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) and is characterized by hyperuricemia, motor and cognitive disability, and self-injurious behavior. Deficiency of myoadenylate deaminase (mAMPD) is associated with myopathic features. In addition to these disorders, several other disorders are briefly summarized. These include defects of phosphoribosylpyrophosphate synthase, adenosine deaminase (ADA), purine nucleoside phosphorylase (PND), deoxyguanosine kinase (dGK), or IMP dehydrogenase (IMPDH). Each of these disorders provides an unusual window on the unique importance of purine metabolism for function of different parts of the nervous system.
A revised guide to the study and of soil and regolith thin sections A specialized system of terms and concepts must be used to accurately and effectively distinguish and name the microscopic features of soils and regoliths. With a comprehensive, consistent terminology at their disposal, researchers may compare, store and discuss new data easily and with less risk of error. The second edition of Guidelines for Analysis and Description of Soil and Regolith Thin Sections has been assembled to address this need, offering a practical system of analysis and description to those working with soil and regolith materials. This essential resource includes: An introduction to micromorphology and its practice Guidelines for the study of thin sections Sections covering the various microscopic features of soils and regoliths Illustrative graphics and colour micrographs Suggested description schemes and data presentation tips By providing an economical, navigable system for the study and documentation of soils and regoliths, Guidelines for Analysis and Description of Soil and Regolith Thin Sections, second edition, offers invaluable guidance for soil scientists, geologists, ecologists, archaeologists and all those concerned with micromorphology.
Various approaches for finding optimal values for the parameters of analog cells have made their entrance in commercial applications. However, a larger impact on the performance is expected if tools are developed which operate on a higher abstraction level and consider multiple architectural choices to realize a particular functionality. This book examines the opportunities, conditions, problems, solutions and systematic methodologies for this new generation of analog CAD tools.
This highly illustrated, diagnostic guidebook provides a single comprehensive source of essential information to enable non-specialists to diagnose lymph node and related diseases with confidence. The text is didactic and practical, covering reactive as well as malignant conditions. Diagnosis of Lymphoproliferative Diseases approaches the disorders based on the WHO classification and is edited by members of the WHO panel for the classification of lymphomas. This second edition contains over 1000 high quality, digitised colour images and tables of essential criteria for each diagnosis. New features include: Full discussion of immunostaining, the core of modern diagnosis Variant forms and technical issues This authoritative guide is an essential reference for haematologists, haematopathologists, general pathologists, diagnostic histopathologists and oncologists.
This book describes new tools for front end analog designers, starting with global variation-aware sizing, and extending to novel variation-aware topology design. The tools aid design through automation, but more importantly, they also aid designer insight through automation. We now describe four design tasks, each more general than the previous, and how this book contributes design aids and insight aids to each. The ?rst designer task targeted is global robust sizing. This task is supported by a design tool that does automated, globally reliable, variation-aware s- ing (SANGRIA),and an insight-aiding tool that extracts designer-interpretable whitebox models that relate sizings to circuit performance (CAFFEINE). SANGRIA searches on several levels of problem dif?culty simultaneously, from lower cheap-to-evaluate “exploration” layers to higher full-evaluation “exploitation” layers (structural homotopy). SANGRIAmakes maximal use of circuit simulations by performing scalable data mining on simulation results to choose new candidate designs. CAFFEINE accomplishes its task by tre- ing function induction as a tree-search problem. It constrains its tree search space via a canonical-functional-form grammar, and searches the space with grammatically constrained genetic programming. The second designer task is topology selection/topology design. Topology selection tools must consider a broad variety of topologies such that an app- priate topology is selected, must easily adapt to new semiconductor process nodes, and readily incorporate new topologies. Topology design tools must allow designers to creatively explore new topology ideas as rapidly as possible.
The tools and techniques you need to break the analog design bottleneck! Ten years ago, analog seemed to be a dead-end technology. Today, System-on-Chip (SoC) designs are increasingly mixed-signal designs. With the advent of application-specific integrated circuits (ASIC) technologies that can integrate both analog and digital functions on a single chip, analog has become more crucial than ever to the design process. Today, designers are moving beyond hand-crafted, one-transistor-at-a-time methods. They are using new circuit and physical synthesis tools to design practical analog circuits; new modeling and analysis tools to allow rapid exploration of system level alternatives; and new simulation tools to provide accurate answers for analog circuit behaviors and interactions that were considered impossible to handle only a few years ago. To give circuit designers and CAD professionals a better understanding of the history and the current state of the art in the field, this volume collects in one place the essential set of analog CAD papers that form the foundation of today's new analog design automation tools. Areas covered are: * Analog synthesis * Symbolic analysis * Analog layout * Analog modeling and analysis * Specialized analog simulation * Circuit centering and yield optimization * Circuit testing Computer-Aided Design of Analog Integrated Circuits and Systems is the cutting-edge reference that will be an invaluable resource for every semiconductor circuit designer and CAD professional who hopes to break the analog design bottleneck.
Being up to Date: Status Quo and Trends of Treatment For those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. This 5th edition has been extensively revised and updated. What ́s new - Additional chapter focusing on inborn errors affecting adults, particularly the late neurological presentations - Numerous updates on diagnostic procedures and treatment - Newly discovered disorders. As with previous editions, the book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure. If a particular diagnosis is already suspected, the reader may refer to the following sections of the book containing general chapters on diagnostic procedures and treatment, and on specific groups of disorders. As with earlier editions, the chapters have been written by authors who are internationally recognised experts on their subjects. They provide information in a clear, relevant and concise manner using a coherent structure.
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