Inheritance Of Crises And Dysfunction

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Inheritance of Crises and Dysfunction

Author : James J. Maiwurm
Publisher : iUniverse
ISBN 13 : 1663204675
Total Pages : 201 pages
Book Rating : 4.6/5 (632 download)

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Book Synopsis Inheritance of Crises and Dysfunction by : James J. Maiwurm

Download or read book Inheritance of Crises and Dysfunction written by James J. Maiwurm and published by iUniverse. This book was released on 2020-07-27 with total page 201 pages. Available in PDF, EPUB and Kindle. Book excerpt: Inheritance of Crises and Dysfunction is a novel about the daunting challenges waiting at home and abroad for the next US Administration, the search for innovative responses and people asked to implement solutions. In addition to global and domestic political issues, the book grapples with the stubborn trauma that accompanies the loss of a spouse, the pain of moving, the mixed emotions associated with contemplating retirement, and the psychological need to remain relevant and connected as one grows older. It is designed to be thought-provoking as well as entertaining, and light enough to stir an occasional laugh or smile. The book opens on inauguration day in 2021. Through the eyes of the protagonist, “’Salt Pepper,” whose career included stints with the US Government and a Washington law firm, it portrays the deep disagreements and partisanship that divide our citizens from one another and their Government, and the US from the rest of the world. Salt thinks he has retired and moved to his ancestral farm near the foot of the Blue Ridge mountains in rural Virginia. Then an old acquaintance, who is about to become the Secretary of State in a new Administration, talks him into accepting a temporary clandestine diplomatic role that takes Salt and a new and able female colleague to the White House, London, Berlin, and Prague and into sensitive meetings with diplomats there and from the Middle East. With roots in history, current events and human nature, the book provides insight into an inheritance of international disarray, toxic domestic politics, the harmful dissonance emanating from our battered small town and rural America, small business and manufacturing, as well as global clamor for US leadership. The crises and dysfunction are not imaginary; neither is the need for leaders willing to grasp nettles and contribute to much needed solutions, even when risky and inconvenient.

Inheritance of Crises and Dysfunction (a Novel)

Author : J. Maiwurm
Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.8/5 (917 download)

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Book Synopsis Inheritance of Crises and Dysfunction (a Novel) by : J. Maiwurm

Download or read book Inheritance of Crises and Dysfunction (a Novel) written by J. Maiwurm and published by . This book was released on 2024-10-02 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Inheritance of Crises and Dysfunctionis a novel that explores the immense challenges facing the next US Administration, both domestically and internationally, while seeking creative solutions and individuals ready to implement them. Beyond political matters, the story delves into personal struggles such as the lingering trauma of losing a spouse, the difficulty of relocating, the mixed feelings about retirement, and the psychological need to stay relevant and connected in one's later years. The narrative aims to provoke thought, but also to entertain, with a tone light enough to evoke a smile or occasional laughter. The book begins on the day of the 2021 presidential inauguration and is told through the perspective of the protagonist, "Salt Pepper," a former US Government employee and Washington law firm associate. It highlights the severe polarization and partisanship dividing both American society and the government, as well as the strained relationships between the US and other nations. Salt, thinking he has retired to his family farm in rural Virginia, is convinced by an old friend-soon to be Secretary of State in a new Administration-to take on a temporary covert diplomatic role. This assignment leads Salt and a capable female colleague on a journey to the White House, London, Berlin, Prague, and sensitive meetings with diplomats, including those from the Middle East. Rooted in history, current affairs, and human nature, the novel sheds light on the inheritance of international instability, domestic political toxicity, and the disruptive forces impacting small towns, rural America, and the manufacturing sector. It also emphasizes the global demand for US leadership and the pressing need for courageous leaders willing to tackle these challenges, no matter the risks or difficulties.

Emery and Rimoin's Essential Medical Genetics

Author : David L. Rimoin
Publisher : Elsevier
ISBN 13 : 0124169821
Total Pages : 647 pages
Book Rating : 4.1/5 (241 download)

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Book Synopsis Emery and Rimoin's Essential Medical Genetics by : David L. Rimoin

Download or read book Emery and Rimoin's Essential Medical Genetics written by David L. Rimoin and published by Elsevier. This book was released on 2013-05-15 with total page 647 pages. Available in PDF, EPUB and Kindle. Book excerpt: For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference. Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on www.expertconsult.com. Features 174 summarized contributions concisely discussing advances in cancer genetics, genomic technologies, and molecular genetics Contains hundreds of full colour illustrations supporting users with identification, concept illustration, and method processing Enhanced with full text online access, high quality illustrations, and online-only references at www.expertconsult.com

The Obstetric Hematology Manual

Author : Sue Pavord
Publisher : Cambridge University Press
ISBN 13 : 1108548377
Total Pages : 362 pages
Book Rating : 4.1/5 (85 download)

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Book Synopsis The Obstetric Hematology Manual by : Sue Pavord

Download or read book The Obstetric Hematology Manual written by Sue Pavord and published by Cambridge University Press. This book was released on 2018-02-08 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: Understand the rapidly growing complexities of obstetric hematology and high-risk pregnancy management, with experts in the field. Now in its second edition, this comprehensive and essential guide focuses on providing the best support for patients and clinical staff, to prevent serious complications in pregnancy and the post-partum period for both mother and baby. Wide-ranging and detailed, the guide offers discussions on basic principles of best care, through to tackling lesser-known hematological conditions, such as cytopenias and hemoglobinopathies. Updated with color illustrations, cutting-edge research, accurate blood film reproductions, and practical case studies, the revised edition places invaluable advice into everyday context. This unique resource is essential reading for trainees and practitioners in obstetrics, anesthesia, and hematology, as well as midwives, nurses, and laboratory staff. Clarifying difficult procedures for disease prevention, the guide ensures safety when the stakes are high. Reflecting current evidence-based guidelines, the updated volume is key to improving pregnancy outcomes worldwide.

Genetic Disorders and the Fetus

Author : Aubrey Milunsky
Publisher : John Wiley & Sons
ISBN 13 : 1118981545
Total Pages : 1216 pages
Book Rating : 4.1/5 (189 download)

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Book Synopsis Genetic Disorders and the Fetus by : Aubrey Milunsky

Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by John Wiley & Sons. This book was released on 2015-09-21 with total page 1216 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline-leading text that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years. The seventh edition continues the long-established tradition of excellence that has become synonymous with this text. The book builds on the foundations of preconception and prenatal genetic counseling and the original pillars of prenatal diagnosis while also providing authoritative coverage of exciting developments in non-invasive genetic testing and rapidly developing molecular techniques, including microarray analysis and next generation sequencing, that are revolutionizing the field. Chapters are once again authored by internationally recognized authorities in the field of prenatal diagnosis. The editors have added three entirely new chapters to this edition to complement the complete revision of existing content. The three new chapters focus on non-invasive prenatal screening, placental genetics, and the psychology of prenatal and perinatal grief. The broad-ranging coverage and international scope will ensure that the new edition maintains its role as the major repository for information on all aspects of prenatal diagnosis. The editors have brought together an invaluable collection of evidence-based facts bolstered by knowledge and decades of experience in the field. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 7th Edition is a timely update to this world-leading text.

Atlas of Inherited Metabolic Diseases

Author : William L Nyhan
Publisher : CRC Press
ISBN 13 : 1138196606
Total Pages : 871 pages
Book Rating : 4.1/5 (381 download)

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Book Synopsis Atlas of Inherited Metabolic Diseases by : William L Nyhan

Download or read book Atlas of Inherited Metabolic Diseases written by William L Nyhan and published by CRC Press. This book was released on 2020-07-14 with total page 871 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis. Key Features • Fully updated to incorporate all new developments in the field • Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others • Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management • Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.

Paroxysmal Movement Disorders

Author : Kapil D. Sethi
Publisher : Springer Nature
ISBN 13 : 3030537218
Total Pages : 145 pages
Book Rating : 4.0/5 (35 download)

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Book Synopsis Paroxysmal Movement Disorders by : Kapil D. Sethi

Download or read book Paroxysmal Movement Disorders written by Kapil D. Sethi and published by Springer Nature. This book was released on 2020-11-18 with total page 145 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book addresses the challenges in the differential diagnosis and management of paroxysmal movement disorders. It provides the latest information on the genetics and pathophysiology, neurophysiology and neuroimaging of the core group of disorders in the field, namely the paroxysmal dyskinesias (PxD). Focused and concise, this guide features chapters that discuss other conditions that may be paroxysmal such as, episodic ataxia, startle syndromes and other more complicated groups of paroxysmal movement disorders such as ATP1A3 spectrum disorders. A chapter on secondary (acquired) paroxysmal dyskinesia highlights medical and other disorders that may result in paroxysmal dyskinesia. The book features a particularly nuanced chapter that discusses recent discoveries in the genetic aspects of PxD, relaying that paroxysmal dyskinesias are not channelpathies, but in fact are synaptophies and transportopathies. Additionally, expertly written chapters are supplemented by high quality images, tables, and videos. Paroxysmal Movement Disorders: A Practical Guide is primarily written to educate the reader on how to make a syndromic diagnosis of paroxysmal movement disorders and how to build the diagnostic work-up accordingly, as well as how to manage patients with paroxysmal movement disorders.

Robbins Essential Pathology E-Book

Author : Vinay Kumar
Publisher : Elsevier Health Sciences
ISBN 13 : 0323640265
Total Pages : 451 pages
Book Rating : 4.3/5 (236 download)

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Book Synopsis Robbins Essential Pathology E-Book by : Vinay Kumar

Download or read book Robbins Essential Pathology E-Book written by Vinay Kumar and published by Elsevier Health Sciences. This book was released on 2020-04-22 with total page 451 pages. Available in PDF, EPUB and Kindle. Book excerpt: The newest addition to the highly regarded Robbins family of pathology references, Robbins Essential Pathology is a concise resource that covers the core knowledge needed for coursework and exams in an integrated, multimedia format designed for today's students. Ideal for use with an integrated medical curriculum, this easy-to-study multimedia package provides reliable Robbins content in a concentrated, highly efficient format, now fully integrated with interactive digital resources (cases, MCQs, images). Efficient, effective, and up to date, this new Robbins learning resource delivers the essential information you need to obtain a strong scientific foundation in pathology. - The most concise Robbins text available, providing high-quality content and a case-based approach in a focused, multimedia learning package for coursework and exam preparation. - Focuses on the core knowledge of disease mechanisms and essential clinical aspects that medical students need to know. - Features more than 500 images and tables that illustrate key disorders and concepts.

Stroke Genetics

Author : Hugh S. Markus
Publisher :
ISBN 13 : 0198515863
Total Pages : 362 pages
Book Rating : 4.1/5 (985 download)

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Book Synopsis Stroke Genetics by : Hugh S. Markus

Download or read book Stroke Genetics written by Hugh S. Markus and published by . This book was released on 2003 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: Stroke is a major cause of death and the major cause of adult neurological disability in most of the world. Despite its importance on a population basis, research into the genetics of stroke has lagged behind that of many other disorders. However, the situation is now changing. An increasing number of single gene disorders causing stroke are being described, and there is growing evidence that polygenic factors are important in the risk of apparently "sporadic" stroke. Stroke Genetics provides an up-to-date review of the area, suitable for clinicians treating stroke patients, and both clinical and non-clinical researchers in the field of cerebrovascular disease. The full range of monogenic stroke disorders causing cerebrovascular disease, including ischaemic stroke, intracerebral haemorrhage, aneurysms and arteriovenous malformations, are covered. For each, clinical features, diagnosis, and genetics are described. Increasing evidence suggest that genetic factors are also important for the much more common multifactorial stroke; this evidence is reviewed along with the results of genetic studies in this area. Optimal and novel strategies for investigating multifactorial stroke, including the use of intermediate phenotypes such as intima-media thickness and MRI detected small vessel disease are reviewed. The book concludes by describing a practical approach to investigating patients with stroke for underlying genetic disorders. Also included is a list of useful websites.

Brain Disorders in Critical Illness

Author : Robert D. Stevens
Publisher : Cambridge University Press
ISBN 13 : 1107434424
Total Pages : 457 pages
Book Rating : 4.1/5 (74 download)

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Book Synopsis Brain Disorders in Critical Illness by : Robert D. Stevens

Download or read book Brain Disorders in Critical Illness written by Robert D. Stevens and published by Cambridge University Press. This book was released on 2013-09-19 with total page 457 pages. Available in PDF, EPUB and Kindle. Book excerpt: Brain dysfunction is a major clinical problem in intensive care, with potentially debilitating long-term consequences for post-ICU patients of any age. The resulting extended length of stay in the ICU and post-discharge cognitive dysfunction are now recognized as major healthcare burdens. This comprehensive clinical text provides intensivists and neurologists with a practical review of the pathophysiology of brain dysfunction and a thorough account of the diagnostic and therapeutic options available. Initial sections review the epidemiology, outcomes, relevant behavioral neurology and biological mechanisms of brain dysfunction. Subsequent sections evaluate the available diagnostic options and preventative and therapeutic interventions, with a final section on clinical encephalopathy syndromes encountered in the ICU. Each chapter is rich in illustrations, with an executive summary and a helpful glossary of terms. Brain Disorders in Critical Illness is a seminal reference for all physicians and neuroscientists interested in the care and outcome of severely ill patients.

Emery's Elements of Medical Genetics E-Book

Author : Peter D Turnpenny
Publisher : Elsevier Health Sciences
ISBN 13 : 0702066893
Total Pages : 413 pages
Book Rating : 4.7/5 (2 download)

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Book Synopsis Emery's Elements of Medical Genetics E-Book by : Peter D Turnpenny

Download or read book Emery's Elements of Medical Genetics E-Book written by Peter D Turnpenny and published by Elsevier Health Sciences. This book was released on 2016-11-30 with total page 413 pages. Available in PDF, EPUB and Kindle. Book excerpt: Everything a student needs to know about medical genetics is here in the 15th edition of this award-winning textbook. Thoroughly updated and revised throughout to map a fast-moving area, the 15th edition continues Emery's enviable reputation for successfully balancing up-to-dateness in a rapidly developing field with a strong basis in practical clinical genetics for medical students. With MCQs and Case-Based Review Questions, end of chapter summaries, it is the essential tool for this complex but foundational topic for all medical undergraduates, as well as postgraduates seeking to improve their understanding and knowledge. Divided into three restructured sections to make the book easier to use for a variety of readers: Scientific Basis of Human Genetics; Genetics in Medicine and Genomic Medicine; Clinical Genetics, Counselling and Ethics •Interactive self-assessment questions •Case-based questions •Online hyperlinks to important genetics websites and clinical databases. •Update of clinical figures to include more full-colour images •An extensive glossary of terms •Full colour art to visualise the appearance of genetic disorders and assist with the understanding of complex genetic structures •Explore the social, ethical and counselling issues surrounding the study and treatment of genetic disorders. •Elements boxes at the end of each chapter summarizing the basics at a glance.

Parkinson's Disease

Author : Patrik Verstreken
Publisher : Academic Press
ISBN 13 : 0128038055
Total Pages : 332 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Parkinson's Disease by : Patrik Verstreken

Download or read book Parkinson's Disease written by Patrik Verstreken and published by Academic Press. This book was released on 2016-12-19 with total page 332 pages. Available in PDF, EPUB and Kindle. Book excerpt: Parkinson's Disease: Molecular Mechanisms Underlying Pathology explores the molecular pathways at the basis of the cellular defects connected to Parkinson's disease, the second most common neurodegenerative disease, and the most common movement disorder. This book presents the latest research on the pathways and mechanisms that have been discovered to play a role in Parkinson's pathology. This focus on mechanisms rather than individual genes allows the contributors to elaborate on overlapping and joint functions of different causative genes. Readers will find descriptions of model systems that present parallels (and differences) between discoveries in different species, demonstrating the importance of multidisciplinary research that spans a broad array of technologies and model organisms. Written from both a cross-methodology and cross-species perspective, the book provides readers with the current state of knowledge on the molecular biology of Parkinson's. - Written by experts in the field that focus on pathways and mechanisms implicated in Parkinson's pathology - Draws parallels between multidisciplinary discoveries in different model organisms using an array of technologies - Provides a cross-methodology and cross-species approach to understanding the molecular biology of Parkinson's disease - Includes approximately 25 color Illustrations and diagrams to explain concepts and models - Focuses on key pathways and mechanisms (as opposed to model organism or gene) to provide a multidisciplinary approach to Parkinson's disease

The Metabolic & Molecular Bases of Inherited Disease

Author : Charles R. Scriver
Publisher : New York ; Montreal : McGraw-Hill
ISBN 13 : 9780071363198
Total Pages : 6338 pages
Book Rating : 4.3/5 (631 download)

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Book Synopsis The Metabolic & Molecular Bases of Inherited Disease by : Charles R. Scriver

Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Netter's Pediatrics E-Book

Author : Rebecca Tenney Soeiro
Publisher : Elsevier Health Sciences
ISBN 13 : 0323796095
Total Pages : 1039 pages
Book Rating : 4.3/5 (237 download)

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Book Synopsis Netter's Pediatrics E-Book by : Rebecca Tenney Soeiro

Download or read book Netter's Pediatrics E-Book written by Rebecca Tenney Soeiro and published by Elsevier Health Sciences. This book was released on 2022-03-23 with total page 1039 pages. Available in PDF, EPUB and Kindle. Book excerpt: Both an ideal learning tool for students and a superb resource for patient education, Netter's Pediatrics, 2nd Edition, is a rich visual aid featuring more than 500 images by Drs. Frank H. Netter, Carlos Machado, and others working in the classic Netter style. The uniquely aesthetic and accurate artwork is accompanied by up-to-date text contributed primarily by physicians at the prestigious Children's Hospital of Philadelphia, all designed to work together to help you diagnose and care for children with common clinical conditions. New chapters, new features, and new online access makes this pediatrics resource a must-have for pediatric rotations, when studying for exams, or when preparing for patient consultations. - Offers at-a-glance information for a quick overview of common pediatric issues—from nutrition, allergy, infectious disease, and adolescent medicine to cancer and heart disease. - Depicts key details for each condition with 500 detailed, crystal-clear images provided by Dr. Frank H. Netter, Dr. Carlos Machado, and others working in the Netter tradition. - Features new clinical vignettes at the start of each chapter. - Includes numerous new chapters including transgender health, feeding and nutrition, device and technology management, endocrine dysnatremias, syndromic intellectual disability, and mitochondrial disorders. - Provides access to more than 20 printable patient education brochures online.

Uncommon Causes of Stroke

Author : Julien Bogousslavsky
Publisher : Cambridge University Press
ISBN 13 : 9780521771450
Total Pages : 418 pages
Book Rating : 4.7/5 (714 download)

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Book Synopsis Uncommon Causes of Stroke by : Julien Bogousslavsky

Download or read book Uncommon Causes of Stroke written by Julien Bogousslavsky and published by Cambridge University Press. This book was released on 2001-05-24 with total page 418 pages. Available in PDF, EPUB and Kindle. Book excerpt: An essential resource for diagnosis and treatment of stroke patients outside the usual clinical categories.

Nelson Textbook of Pediatrics, 2-Volume - E-Book

Author : Robert Kliegman
Publisher : Elsevier Health Sciences
ISBN 13 : 0323883060
Total Pages : 6319 pages
Book Rating : 4.3/5 (238 download)

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Book Synopsis Nelson Textbook of Pediatrics, 2-Volume - E-Book by : Robert Kliegman

Download or read book Nelson Textbook of Pediatrics, 2-Volume - E-Book written by Robert Kliegman and published by Elsevier Health Sciences. This book was released on 2024-03-29 with total page 6319 pages. Available in PDF, EPUB and Kindle. Book excerpt: **Selected for Doody's Core Titles® 2024 with "Essential Purchase" designation in Pediatrics**Covering every aspect of general pediatric practice, as well as details for many pediatric subspecialists, Nelson Textbook of Pediatrics, 22nd Edition, brings you fully up to date with everything from rapidly changing diagnostic and treatment protocols to new technologies to the wide range of biologic, psychologic, and social problems faced by children today. Edited and written by experts and prominent members of the pediatric medical community, this comprehensive two-volume reference covers both the science and art of pediatric practice. It remains the reference of choice among pediatricians, pediatric residents, and others involved in the care of young patients, delivering the information you need in a concise, easy-to-use format for everyday reference and study. - Features a user-friendly format with short chapters and subchapters that allow you to quickly find the information you need. - Includes more than 60 new chapters on topics covering the impact of social factors on children's health, the impact of genetic discoveries on understanding diagnosing and treating childhood diseases, updating of current evidenced based diagnostic and therapeutic approaches to childhood diseases, and more. - Offers new and expanded information on gene therapy; interferonopathies; reactive infectious mucocutaneous eruption (RIME); e-cigarette or vaping use-associated lung injury (EVALI); monkeypox; food protein-induced enterocolitis syndrome (FPIES); signaling pathway disorders; ciliopathies; very early onset inflammatory bowel disease; Epstein-Barr virus susceptibility disorders; marijuana smoke exposure; and much more. - Features hundreds of new figures and tables throughout for visual clarity and quick reference, real-time videos, and regular updates online, written exclusively for Nelson. - Provides fresh perspectives from two new associate editors: Abigail M. Schuh and Cara L. Mack, both of Medical College of Wisconsin. - Remains your indispensable source for definitive, evidence-based answers on every aspect of pediatric care. - Any additional digital ancillary content may publish up to 6 weeks following the publication date.

Inherited Metabolic Epilepsies

Author : Phillip L. Pearl
Publisher : Demos Medical Publishing
ISBN 13 : 1936287250
Total Pages : 377 pages
Book Rating : 4.9/5 (362 download)

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Book Synopsis Inherited Metabolic Epilepsies by : Phillip L. Pearl

Download or read book Inherited Metabolic Epilepsies written by Phillip L. Pearl and published by Demos Medical Publishing. This book was released on 2012-10-04 with total page 377 pages. Available in PDF, EPUB and Kindle. Book excerpt: The explosion of information in neurogenetics and metabolism mandates increasing awareness of appropriate diagnostic and therapeutic strategies in the setting of certain epilepsies, especially those of very early onset. There are over 200 inherited disorders that are associated with seizures and prompt identification and intervention is crucial for a positive outcome. This text brings together the leading authorities working in this area to present state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. The book begins with general principles for diagnosis and targeted intervention including screening protocols, laboratory testing, seizure patterns and EEG findings, imaging, new technologies, and the ketogenic diet. The next two sections are devoted to the cohort of specific small molecule and large molecule disorders that are treatable yet can be so vexing to clinicians and investigators. The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction while considering an inherited metabolic disorder as the explanation for a patient with epilepsy.