Author: Parvaneh Karimzadeh
Publisher: Cambridge Scholars Publishing
ISBN: 1527552012
Category : Medical
Languages : en
Pages : 178
Get Book Here
Book Description
Neurometabolic disorders are hereditary diseases of which neurological manifestations are a prominent sign. Because some neurometabolic diseases are treatable, early detection and early intervention in patients are essential. Children without early diagnosis and treatment suffer recurrent episodes of lethargy and loss of consciousness due to environmental stresses, and these attacks can lead to metabolic decompensating and often have fatal effects. Severe neurological consequences or regression in neurodevelopmental milestones are prominent signs in patients who survive. According to these findings, physicians—especially in the fields of pediatric neurology, pediatric endocrinology, as well as pediatrics and neurology more generally—need to be familiar with these important groups of disorders in order to diagnose and treat them successfully. This atlas of neurometabolic disorders can be used as a guide, and is recommended for all pediatric specialists wishing to provide early diagnoses of pediatric patients.
Author: William L Nyhan
Publisher: CRC Press
ISBN: 0340809701
Category : Medical
Languages : en
Pages : 801
Get Book Here
Book Description
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, authored by three of the foremost authorities in pediatric metabolic medicine, fulfils this need by providing an invaluable insight into the problems associated with metabolic diseases. For ease of reference, Atlas of Metabolic Disease is divided into sections of related disorders, such as disorders of amino acid metabolism, lipid storage disorders and mitochondrial diseases, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within sections each chapter deals with an individual disease, starting with a useful summary of major phenotypic expression and including clear and helpful biochemical pathways, identifying for the reader exactly where the defect is occurring. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.
Author: William L Nyhan
Publisher: CRC Press
ISBN: 1138196622
Category : Medical
Languages : en
Pages : 1779
Get Book Here
Book Description
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.
Author: Georg F. Hoffmann
Publisher: Springer Science & Business Media
ISBN: 3540747230
Category : Medical
Languages : en
Pages : 380
Get Book Here
Book Description
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.
Author: Ernesto Tomei
Publisher: John Wiley & Sons
ISBN: 1118692144
Category : Medical
Languages : en
Pages : 340
Get Book Here
Book Description
The first complete textbook and atlas of the vitally important technique of bone age assessment utilizing MRI for children's hand and wrist This latest volume in the growing Wiley Current Clinical Imaging series is a must-have resource that collects, in a single volume, all that is currently known and applicable about the use of magnetic resonance imaging (MRI) for the assessment of bone age. Presented in two parts, Text-Atlas of Skeletal Age Determination: MRI of the Hand and Wrist in Children first focuses on the anatomic, social, and legal aspects of bone age, providing a concise overview of the use of bone age determination in medical, legal, and social systems.??It then covers the clinical use and application of MRI in assessing bone age. The book offers complete chapter coverage on endocrinology, puberty, and disorders of pubertal development; bone marrow maturation in healthy and diseased states; growth failure and pediatric inflammatory bowel disease; skeletal findings in neurometabolic disease, genetic disease, and pediatric oncology patients; and much more. Text-Atlas of Skeletal Age Determination provides: A comprehensive review of the medical, legal, and social aspects of bone age assessment An in-depth discussion of MRI as an alternative to the traditional ionizing radiation-based radiographic techniques for the assessment of bone age Complete guidelines for clinical application of these MRI-based techniques "Recipes" for replicating these techniques and applications for diverse patient populations Cutting-edge information prepared and presented by an international team of experts A superb collection of beautifully reproduced, high-quality images This is an ideal book for radiologists, pediatricians, family physicians, endocrinologists, and sports medicine physicians interested in skeletal development and bone age assessment.
Author: William Nyhan
Publisher: CRC Press
ISBN: 144411459X
Category : Medical
Languages : en
Pages : 801
Get Book Here
Book Description
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
Author: William Nyhan
Publisher: CRC Press
ISBN: 1444149482
Category : Medical
Languages : en
Pages : 889
Get Book Here
Book Description
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 third edition of this highly regarded book, autho
Author: Roger N. Rosenberg
Publisher: Elsevier
ISBN: 0124105491
Category : Science
Languages : en
Pages : 1465
Get Book Here
Book Description
Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations
Author: Juan M. Pascual
Publisher: Cambridge University Press
ISBN: 1107042054
Category : Medical
Languages : en
Pages : 507
Get Book Here
Book Description
A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
Author: Carla E. M. Hollak
Publisher: Oxford University Press
ISBN: 0199972133
Category : Medical
Languages : en
Pages : 657
Get Book Here
Book Description
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.
