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Author: Barbara K. Burton
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318068306
Category : Medical
Languages : en
Pages : 50
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Book Description
Disorders affecting the oxidation of long-chain fatty acids are complex, potentially life-threatening, metabolic conditions. A number of genetically distinct conditions exist, depending on the gene and protein affected, but there are some common clinical and biochemical features. Newborn screening, which allows early intervention to prevent long-term morbidity, is not universally available. Even with screening, it is important that health professionals recognize the symptoms that may manifest at different stages of life. This concise guide to these rare conditions will be of value to all health professionals who may encounter or care for an individual with a long-chain fatty acid oxidation disorder. As well as explaining the underlying defects, inheritance and how the conditions manifest, the book describes the diagnosis and differential diagnosis of the disorders. The final chapter gives some guidance on genetic counseling and supporting patients. Table of Contents: • Fatty acid metabolism • Epidemiology and genetics • Clinical presentation • Diagnosis • Genetic counseling, newborn screening and patient support
Author: Barbara K. Burton
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318068306
Category : Medical
Languages : en
Pages : 50
Get Book Here
Book Description
Disorders affecting the oxidation of long-chain fatty acids are complex, potentially life-threatening, metabolic conditions. A number of genetically distinct conditions exist, depending on the gene and protein affected, but there are some common clinical and biochemical features. Newborn screening, which allows early intervention to prevent long-term morbidity, is not universally available. Even with screening, it is important that health professionals recognize the symptoms that may manifest at different stages of life. This concise guide to these rare conditions will be of value to all health professionals who may encounter or care for an individual with a long-chain fatty acid oxidation disorder. As well as explaining the underlying defects, inheritance and how the conditions manifest, the book describes the diagnosis and differential diagnosis of the disorders. The final chapter gives some guidance on genetic counseling and supporting patients. Table of Contents: • Fatty acid metabolism • Epidemiology and genetics • Clinical presentation • Diagnosis • Genetic counseling, newborn screening and patient support
Author: B.K. Burton
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318069574
Category : Medical
Languages : en
Pages : 26
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Book Description
Long-chain fatty acid oxidation disorders (LC-FAODs) are rare, inherited conditions. With an LC-FAOD, the body has trouble breaking down fat for energy, which can lead to symptoms such as low blood sugars, muscle pain/weakness, and heart problems. LC-FAODs are diagnosed by newborn screening or symptoms later in life. Management includes a specialized nutrition plan, and prevention of fasting, especially during illness. A person with an LC-FAOD can live a full, active and healthy life with lifestyle changes and close coordination with, and support from, an expert healthcare team. Table of Contents: • Fats and fatty acids • Fatty acids for energy • Long-chain fatty acid oxidation disorders • Diagnosis • Genetic testing • Living with an LC-FAOD • Monitoring • What can I do to help my child? • Genetic counseling • How many people are affected? • Who’s who?
Author: B.K. Burton
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318069639
Category : Medical
Languages : en
Pages : 26
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Book Description
Defeitos de oxidação dos ácidos graxos de cadeia longa (LC-FAOD) são problemas raros e hereditários. Nos LC-FAOD, o corpo tem dificuldade para transformar a gordura em energia, o que pode resultar em sintomas como glicemia baixa, dor/fraqueza muscular e problemas cardíacos. Os LC-FAOD são diagnosticados por triagem neonatal ou em caso de sintomas que aparecem mais tarde na vida. O controle inclui um plano nutricional específico e a prevenção do jejum, especialmente durante as crises. Uma pessoa com LC-FAOD pode viver uma vida plena, ativa e saudável com mudanças no estilo de vida e coordenação afinada e apoio de uma equipe de saúde formada por especialistas. Índice: • Lipídios e ácidos graxos • Ácidos graxos para energia • Defeitos de oxidação de ácidos graxos de cadeia longa • Diagnóstico • Testes genéticos • Vivendo com LC-FAOD • Monitoramento • O que posso fazer para ajudar meu filho ou minha filha? Aconselhamento genético • Quantas pessoas são afetadas?
Author: B.K. Burton
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318069663
Category : Medical
Languages : en
Pages : 26
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Book Description
Les troubles d’oxydation des acides gras à chaîne longue (TOAG-CL) sont des maladies héréditaires rares. Les TOAG-CL font en sorte que le corps a de la difficulté à convertir les acides gras en énergie, ce qui peut mener à des symptômes tels qu’un taux de sucre sanguin trop bas, des douleurs ou des faiblesses musculaires, et des problèmes cardiaques. Les TOAG-CL sont diagnostiqués à l’aide de tests de dépistage chez les nouveau-nés, ou plus tard, suite à des symptômes. On les traite avec un régime spécialisé et en évitant le jeûne, surtout quand la personne atteinte est malade. Une personne avec un TOAG-CL peut mener une vie bien remplie, saine et active en apportant des changements à son style de vie, en étroite coordination et avec le soutien de son équipe de soins de santé. Table des matières: • Les lipides et les acides gras • Les acides gras comme source d’énergie • Les troubles d’oxydation des acides gras à chaîne longue • Diagnostic • Tests génétiques • Vivre avec un TOAG-CL • Surveillance et suivis • Que puis-je faire pour aider mon enfant • Consultation génétique • Combien de personnes en sont atteintes?
Author: Graham C. Burdge
Publisher: Elsevier
ISBN: 012811231X
Category : Science
Languages : en
Pages : 256
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Book Description
Polyunsaturated Fatty Acid Metabolism explores a number of major roles of PUFA in the body, including its role as a component of cell membranes and how it provides substrates for the synthesis of lipid second messengers. Recent studies are unraveling the effect of interactions between diet and endocrine factors and genetic and epigenetic variation on the regulation of PUFA biosynthesis in animals. Together, these recent findings provide novel insights into the impact of differences in PUFA supply on health. This book captures these findings in a manner that marks the state-of-the-art, placing them in the wider context of PUFA metabolism and nutritional science. Users will find a comprehensive discussion on the topic that presents the contributions of leading researchers who combine their knowledge to create a cohesive academic resource for researchers, those involved in production, and health policymakers. - Provides a comprehensive view of polyunsaturated fatty acid metabolism - Describes underlying metabolism on lipids that include polyunsaturated fatty acids - Includes discussions on recent findings on the genetic and epigenetic regulation of polyunsaturated fatty acid metabolism
Author: Georg F. Hoffmann
Publisher: Springer
ISBN: 3662494108
Category : Medical
Languages : en
Pages : 600
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Book Description
This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists.
Author: Barbara K. Burton
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318068314
Category : Medical
Languages : en
Pages : 50
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Book Description
Disorders affecting the oxidation of long-chain fatty acids are complex, potentially life-threatening, metabolic conditions. A number of genetically distinct conditions exist, depending on the gene and protein affected, but there are some common clinical and biochemical features. Newborn screening, which allows early intervention to prevent long-term morbidity, is not universally available. Even with screening, it is important that health professionals recognize the symptoms that may manifest at different stages of life. This concise guide to these rare conditions will be of value to all health professionals who may encounter or care for an individual with a long-chain fatty acid oxidation disorder. As well as explaining the underlying defects, inheritance and how the conditions manifest, the book describes the diagnosis and differential diagnosis of the disorders. The final chapter gives some guidance on genetic counseling and supporting patients.
Author: Angelica R. Putnam
Publisher: Elsevier Health Sciences
ISBN: 0323796680
Category : Medical
Languages : en
Pages : 1192
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Book Description
This expert volume in the Diagnostic Pathology series is an excellent point-of-care resource for practitioners at all levels of experience and training. Covering all areas of nonneoplastic pediatric pathology, it incorporates the most recent clinical, pathological, and molecular knowledge in this challenging field to provide a comprehensive overview of all key issues relevant to today's practice. Richly illustrated and easy to use, Diagnostic Pathology: Nonneoplastic Pediatrics, second edition, is a one-stop reference for accurate, complete pathology reports, ideal as a day-to-day reference or as a reliable training resource. - Provides a clear framework for a better understanding of the clinical and histopathologic appearances of more than 270 nonneoplastic entities, covering every organ system with a focus on reactive, infectious, congenital, and genetic conditions - Covers significant advances in this complex field, including recent molecular discoveries and updated disease entities, new information on multiple immunologic disorders, changes and expansions to several classification systems (such as WHO, Banff, and ISSVA), and updates in other scoring systems - Contains new chapters on manifestations of pediatric COVID-19 infection, tumoral calcinosis, multiple skeletal dysplasia, skeletal muscle, collagenous gastritis and colitis, adenovirus appendicitis, intestinal pseudoobstruction, disorders of sexual development, and Kikuchi disease - Includes approximately 3,000 high-quality clinical and histologic images, gross pathology images, radiologic images, and full-color illustrations to help practicing and in-training pathologists reach a confident diagnosis—as well as nearly 200 additional images online - Employs consistently templated chapters and bulleted content for quick, expert reference at the point of care
Author: Vinood Patel
Publisher: Academic Press
ISBN: 0128112980
Category : Technology & Engineering
Languages : en
Pages : 462
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Book Description
The Molecular Nutrition of Fats presents the nutritional and molecular aspects of fats by assessing their dietary components, their structural and metabolic effects on the cell, and their role in health and disease. Subject areas include molecular mechanisms, membranes, polymorphisms, SNPs, genomic wide analysis, genotypes, gene expression, genetic modifications and other aspects. The book is divided into three sections, providing information on the general and introductory aspects, the molecular biology of the cell, and the genetic machinery and its function. Topics discussed include lipid-related molecules, dietary lipids and lipid metabolism, high fat diets, choline, cholesterol, membranes, trans-and saturated fatty acids, and lipid rafts. Other sections provide comprehensive discussions on G protein-coupled receptors, micro RNA, transcriptomics, transcriptional factors, cholesterol, triacylglycerols, beta-oxidation, cholesteryl ester transfer, beta-oxidation, lysosomes, lipid droplets, insulin mTOR signaling and ligands, and more. - Summarizes molecular nutrition in health as related to fats - Discusses the impact of fats on cancer, heart disease, dementia, and respiratory and intestinal disease - Includes preclinical, clinical and population studies - Covers the genome, the whole body and whole communities - Includes key facts, a mini dictionary of terms and summary points
Author: Amy R. Koehn, PhD, NNP-BC
Publisher: Springer Publishing Company
ISBN: 0826180329
Category : Medical
Languages : en
Pages : 514
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Book Description
The definitive certification review for exam success! Written by leading APRN neonatal educators and clinicians, this authoritative study guide delivers all the tools neonatal nurse practitioners need to pass the National Certification Corporation (NCC) certification exam and the Continuing Competency Assessment (CCA). User friendly and concise, this review’s content mirrors that of the actual exam and is structured in accordance with the most updated test plan blueprint. This resource’s numerous exam-style questions and answers with rationales included in each chapter help readers uncover gaps in their knowledge. This review synthesizes the knowledge required to pass the exam, saving the reader time and effort by omitting extraneous material. In addition to spotlighting essential content throughout the text, recommended references provide the reader with the option to seek out additional information as needed. Additional benefits include important information about the exam along with savvy study and test-taking tips. This review will ensure exam success for both new NNPs and those who are taking the CCA exam. KEY FEATURES Mirrors the format of the certification exam Concise outline format for easy access to essential content Written by leading NNP educators and clinicians Includes valuable study and test-taking tips Exam-style questions and answers with explanatory rationales Includes more than double the amount of questions on the exam, including a 175-question simulated practice exam Purchase includes digital access for use on most mobile devices or computers
