Physicians Guide To The Diagnosis Treatment And Follow Up Of Inherited Metabolic Diseases

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Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Author : Nenad Blau
Publisher : Springer Nature
ISBN 13 : 3030677273
Total Pages : 1514 pages
Book Rating : 4.0/5 (36 download)

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Book Synopsis Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by : Nenad Blau

Download or read book Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer Nature. This book was released on 2022-02-21 with total page 1514 pages. Available in PDF, EPUB and Kindle. Book excerpt: This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com

Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases

Author : Nenad Blau
Publisher : Springer
ISBN 13 : 9783540803607
Total Pages : 416 pages
Book Rating : 4.8/5 (36 download)

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Book Synopsis Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases by : Nenad Blau

Download or read book Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2009-09-02 with total page 416 pages. Available in PDF, EPUB and Kindle. Book excerpt: This reference provides concise information on the treatment and management of inherited metabolic diseases for the clinician. World experts cover all commonalities of therapy giving practical advice and guidance for daily practice. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables, figures, and several indices (symptom, disease name, tests, etc.) allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.

Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases

Author : Nenad Blau
Publisher : Springer Science & Business Media
ISBN 13 : 9783540425427
Total Pages : 770 pages
Book Rating : 4.4/5 (254 download)

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Book Synopsis Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases by : Nenad Blau

Download or read book Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases written by Nenad Blau and published by Springer Science & Business Media. This book was released on 2003 with total page 770 pages. Available in PDF, EPUB and Kindle. Book excerpt: Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. The book includes a CD-ROM with search function.

Physician's Guide to the Laboratory Diagnosis of Inherited Metabolic Diseases

Author : N. Blau
Publisher : CRC Press
ISBN 13 : 9780412575600
Total Pages : 544 pages
Book Rating : 4.5/5 (756 download)

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Book Synopsis Physician's Guide to the Laboratory Diagnosis of Inherited Metabolic Diseases by : N. Blau

Download or read book Physician's Guide to the Laboratory Diagnosis of Inherited Metabolic Diseases written by N. Blau and published by CRC Press. This book was released on 1998-09-04 with total page 544 pages. Available in PDF, EPUB and Kindle. Book excerpt: University of Zurich, Switzerland. Handbook of inherited metabolic diseases, for physicians, clinical chemists, biochemists, and pathologists. Discusses testing and treatment options of inborn errors of metabolism. Extensive tables and flowcharts. 51 contributors, 16 U.S.

Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases

Author : Nenad Blau
Publisher : Springer Science & Business Media
ISBN 13 : 3540289623
Total Pages : 404 pages
Book Rating : 4.5/5 (42 download)

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Book Synopsis Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases by : Nenad Blau

Download or read book Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases written by Nenad Blau and published by Springer Science & Business Media. This book was released on 2006-01-16 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt: This reference provides concise information on the treatment and management of inherited metabolic diseases for the clinician. World experts cover all commonalities of therapy giving practical advice and guidance for daily practice. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables, figures, and several indices (symptom, disease name, tests, etc.) allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.

A Clinical Guide to Inherited Metabolic Diseases

Author : Joe T. R. Clarke
Publisher : Cambridge University Press
ISBN 13 : 1139447181
Total Pages : 360 pages
Book Rating : 4.1/5 (394 download)

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Book Synopsis A Clinical Guide to Inherited Metabolic Diseases by : Joe T. R. Clarke

Download or read book A Clinical Guide to Inherited Metabolic Diseases written by Joe T. R. Clarke and published by Cambridge University Press. This book was released on 2005-12-08 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.

Inherited Metabolic Diseases

Author : Georg F. Hoffmann
Publisher : Springer Science & Business Media
ISBN 13 : 3540747230
Total Pages : 380 pages
Book Rating : 4.5/5 (47 download)

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Book Synopsis Inherited Metabolic Diseases by : Georg F. Hoffmann

Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann and published by Springer Science & Business Media. This book was released on 2009-11-21 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.

Inherited Metabolic Disease in Adults

Author : Carla E. M. Hollak
Publisher : Oxford University Press
ISBN 13 : 0199972133
Total Pages : 657 pages
Book Rating : 4.1/5 (999 download)

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Book Synopsis Inherited Metabolic Disease in Adults by : Carla E. M. Hollak

Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.

Vademecum Metabolicum

Author : Johannes Zschocke
Publisher : Schattauer Verlag
ISBN 13 : 3794528166
Total Pages : 188 pages
Book Rating : 4.7/5 (945 download)

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Book Synopsis Vademecum Metabolicum by : Johannes Zschocke

Download or read book Vademecum Metabolicum written by Johannes Zschocke and published by Schattauer Verlag. This book was released on 2011 with total page 188 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Metabolic Diseases

Author : E. Gilbert-Barness
Publisher : IOS Press
ISBN 13 : 1614997187
Total Pages : 960 pages
Book Rating : 4.6/5 (149 download)

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Book Synopsis Metabolic Diseases by : E. Gilbert-Barness

Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.

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.

Nutrition Management of Inherited Metabolic Diseases

Author : Laurie E. Bernstein
Publisher : Springer
ISBN 13 : 3319146211
Total Pages : 377 pages
Book Rating : 4.3/5 (191 download)

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Book Synopsis Nutrition Management of Inherited Metabolic Diseases by : Laurie E. Bernstein

Download or read book Nutrition Management of Inherited Metabolic Diseases written by Laurie E. Bernstein and published by Springer. This book was released on 2015-06-03 with total page 377 pages. Available in PDF, EPUB and Kindle. Book excerpt: This up-to-date reference on the nutrition management of inherited metabolic diseases (IMD) covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are addressed. The book is based on 7 years of lectures delivered through Metabolic University – an interactive, didactic program designed to provide training to dietitians who work with individuals with IMD. This book provides the basic information required to manage nutrition care and is a resource for clinicians new to this complex field.

Atlas of Metabolic Diseases Second edition

Author : William Nyhan
Publisher : CRC Press
ISBN 13 : 144411459X
Total Pages : 801 pages
Book Rating : 4.4/5 (441 download)

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Book Synopsis Atlas of Metabolic Diseases Second edition by : William Nyhan

Download or read book Atlas of Metabolic Diseases Second edition written by William Nyhan and published by CRC Press. This book was released on 2005-08-26 with total page 801 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 second edition of this highly regarded book, auth

Pediatric Genetics and Inborn Errors of Metabolism

Author : Christine M. Houser
Publisher : Springer Science & Business Media
ISBN 13 : 1493905813
Total Pages : 156 pages
Book Rating : 4.4/5 (939 download)

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Book Synopsis Pediatric Genetics and Inborn Errors of Metabolism by : Christine M. Houser

Download or read book Pediatric Genetics and Inborn Errors of Metabolism written by Christine M. Houser and published by Springer Science & Business Media. This book was released on 2014-04-12 with total page 156 pages. Available in PDF, EPUB and Kindle. Book excerpt: Often, information in review books can raise as many questions as it answers. This interferes with the study process, because the learner must either look up additional information or skip ahead without truly comprehending what he or she has read. As an alternative, Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review presents bite-size chunks of information that can be read and processed rapidly, helping learners to stay active while studying and to pick up new information the first time they read it. This book's question and answer format allows for self-testing or study with a partner or a group. The format also facilitates dipping into the book during a few minutes of downtime at the hospital or office. Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review is a quick and easy way to master these tricky topics and is suitable for those studying for the pediatric board exam, practicing physicians brushing up their skills and any busy clinician who wants to learn more about these topics while on the go.

Management of Genetic Syndromes

Author : Suzanne B. Cassidy
Publisher : John Wiley & Sons
ISBN 13 : 1118210670
Total Pages : 1678 pages
Book Rating : 4.1/5 (182 download)

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Book Synopsis Management of Genetic Syndromes by : Suzanne B. Cassidy

Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

Inborn Metabolic Diseases

Author : K. Tada
Publisher : Springer Science & Business Media
ISBN 13 : 3662031477
Total Pages : 421 pages
Book Rating : 4.6/5 (62 download)

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Book Synopsis Inborn Metabolic Diseases by : K. Tada

Download or read book Inborn Metabolic Diseases written by K. Tada and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.

Electrocardiography in Emergency, Acute, and Critical Care, 2nd Edition

Author : Amal Mattu, MD, FACEP
Publisher : American College of Emergency Physicians
ISBN 13 : 1732748640
Total Pages : 13 pages
Book Rating : 4.7/5 (327 download)

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Book Synopsis Electrocardiography in Emergency, Acute, and Critical Care, 2nd Edition by : Amal Mattu, MD, FACEP

Download or read book Electrocardiography in Emergency, Acute, and Critical Care, 2nd Edition written by Amal Mattu, MD, FACEP and published by American College of Emergency Physicians. This book was released on 2019-04-02 with total page 13 pages. Available in PDF, EPUB and Kindle. Book excerpt: "This book is appropriate for a broad audience, ranging from third-year medical students starting clinical rotations to experienced providers looking to expand their knowledge. It is written by a large group of authors, coordinated by the respected emergency medicine physician, Dr. Amal Mattu."—Karl John LaFleur, MD (Regions Hospital), Doody's Review Service BE THE ECG EXPERT! In the emergency department-in any acute or critical care setting-when it's on you to direct a patient's care based on an ECG, you have to be the ECG expert. Right then. See what you need to see, recognize what's important, and act accordingly. And quickly. Get better with Electrocardiography in Emergency, Acute, and Critical Care, 2nd Ed. A highly visual resource, readable from cover to cover, what works and what doesn't. The editors-internationally known experts on ECG interpretation and how to teach it-know from experience what should happen at the bedside, and they show it to you in a clear and practical way. They want you to be confident about reading ECGs. They want you to save lives-and they know you will. HIGHLIGHTS OF THE NEW EDITION: 18 completely revised and updated chapters || High-yield key points at the beginning of each chapter || More than 200 ECG images with explanations of important findings || More than 80 charts and tables for quick illustration of key ECG and patient characteristics || 27 expert contributors. WHAT'S IN IT? · The ECG and Clinical Decision-Making in the Emergency Department · Intraventricular Conduction Abnormalities · Bradycardia, Atrioventricular Block, and Sinoatrial Block · Narrow Complex Tachycardias · Wide Complex Tachycardias · Acute Coronary Ischemia and Infarction · Additional-Lead Testing in Electrocardiography · Emerging Electrocardiographic Indications for Acute Reperfusion · ACS Mimics Part I: Non-ACS Causes of ST-Segment Elevation · ACS Mimics Part II: Non-ACS Causes of ST-Segment Depression and T-Wave Abnormalities · Pericarditis, Myocarditis, and Pericardial Effusions · Preexcitation and Accessory Pathway Syndromes · Inherited Syndromes of Sudden Cardiac Death · Pacemakers and Pacemaker Dysfunction · Metabolic Abnormalities: Effects of Electrolyte Imbalances and Thyroid Disorders on the ECG · The ECG in Selected Noncardiac Conditions · The ECG and the Poisoned Patient · The Pediatric ECG