Accurate interpretation of the organic acid chromatographs obtained from the gas chromatography/mass spectrometry requires a significant amount of practice. Pattern recognition is an important factor and a skill that is gained through time and effort. A Quick Guide to Metabolic Disease Testing Interpretation, Second Edition, provides these example chromatographs demonstrating specific disease-related metabolites for the inborn error of metabolism diagnosed via this method. One or more representative chromatographs from each of the common disorders is presented, with the important compounds noted on the chromatographs. This is a must-have for laboratory and medical professionals who interpret testing for the diagnosis and monitoring of IEM. - Includes pathway diagrams and representative compound scans of important diagnostic compounds - Provides illustrative chromatographs from selected disorders to aid in diagnosing common inborn errors of metabolism - Highlights brief descriptions of the etiology and clinical presentation of each presented disorder
Accurate interpretation of the organic acid chromatographs obtained from the gas chromatography/mass spectrometry requires a significant amount of practice. Pattern recognition is an important factor and a skill that is gained through time and effort. A Quick Guide to Metabolic Disease Testing Interpretation, Second Edition, provides these example chromatographs demonstrating specific disease-related metabolites for the inborn error of metabolism diagnosed via this method. One or more representative chromatographs from each of the common disorders is presented, with the important compounds noted on the chromatographs. This is a must-have for laboratory and medical professionals who interpret testing for the diagnosis and monitoring of IEM.
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.
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.
A quick guide to appropriately selecting and interpreting laboratory tests, Small Animal Clinical Diagnosis by Laboratory Methods, 5th Edition helps you utilize your in-house lab or your specialty reference lab to efficiently make accurate diagnoses without running a plethora of unnecessary and low-yield tests. It provides answers to commonly asked questions relating to laboratory tests, and solutions to frequently encountered problems in small animal diagnosis. For easy reference, information is provided by clinical presentation and abnormalities, and includes hundreds of tables, boxes, key points, and algorithms. This edition, now in full color, is updated with the latest advances in laboratory testing methods and diagnostic problem solving. Written by noted educators Dr. Michael Willard and Dr. Harold Tvedten, this book may be used as an on-the-spot guide to specific problems or conditions as well as a reference for more detailed research on difficult cases. - Concise discussions address laboratory approaches to various disorders, possible conclusions from various test results, artifacts and errors in diagnoses, and interpretations leading to various diagnoses. - Hundreds of tables, boxes, algorithms, and key points offer at-a-glance information including cautions, common pitfalls, and helpful "pearls," and lead to proper differential and clinical diagnostic decision making. - Note boxes identify key considerations in correlating clinical signs with test data for accurate diagnoses, highlight safety precautions, and offer helpful tips for sample preparation and interpretation. - Chapters on laboratory diagnostic toxicology and therapeutic drug monitoring help in handling potentially fatal poisonings and other special situations. - Expert editors and contributors provide clinical knowledge and successful diagnostic problem-solving solutions. - A practical appendix lists referral laboratories that may be contacted for certain diseases, and reference values with the normal or expected range for coagulation, hematology, and more. - Updated coverage integrates the newest advances in testing methods and diagnostic problem solving. - Full-color photos and schematic drawings are placed adjacent to related text, and accurately depict diagnostic features on microscopic slide preparations as well as test procedures and techniques.
The Pediatric and Perinatal Autopsy Manual is a clear and practical yet comprehensive guide for pathology trainees and non-pediatric pathologists. With chapters organized by types of autopsy, this manual answers questions such as: what do I do in cases of congenital malformation or suspected metabolic disease? What is important in the diagnosis of intrapartum and neonatal death? What must I consider in a baby with intrauterine growth restriction and stillbirth? How do I perform a post-mortem in a case of sudden death in infancy? Chapters describe the most important conditions to consider when examining the organs, both macroscopically and histologically, as well as descriptions of how to perform the autopsy. The book is richly illustrated throughout with numerous color images. Written and edited by leading experts in the field, this is an essential resource for non-pediatric general and trainee pathologists as well as forensic pathologists.
The book addresses controversies related to the origins of cancer and provides solutions to cancer management and prevention. It expands upon Otto Warburg's well-known theory that all cancer is a disease of energy metabolism. However, Warburg did not link his theory to the "hallmarks of cancer" and thus his theory was discredited. This book aims to provide evidence, through case studies, that cancer is primarily a metabolic disease requring metabolic solutions for its management and prevention. Support for this position is derived from critical assessment of current cancer theories. Brain cancer case studies are presented as a proof of principle for metabolic solutions to disease management, but similarities are drawn to other types of cancer, including breast and colon, due to the same cellular mutations that they demonstrate.
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.
Handbook of Nutritional Disorders is a comprehensive handbook covering topics in nutrition, malnutrition, and the clinical disorders associated with nutrition from deficiency to toxicity. It includes information on disorders related to carbohydrate, lipid, and protein metabolism as well as vitamin and mineral abnormalities. The book details various types of supplements, feeding methods, and therapies for many specific patients. It aims to educate readers on ways to prevent disorders resulting from all types of malnutrition and their potentially severe complications. Features Strong focus on diabetes featuring information on various forms of the disease and treatment information Detailed discussion of lipids and related disorders – cardiovascular disease is the number one cause of death, informs users on prevention and treatment of hypertension, myocardial infarction, and stroke Contains information on selective nutritional disorders including obesity, dehydration, imbalances, malabsorption, alcoholism, neuropsychiatric disorders, eating disorders, cancer, and pollutant poisonings Written for researchers, academia, and students in healthcare and nutrition fields, this book educates individuals on prevention of disorders resulting from all types of malnutrition and their potentially severe complications.
