Inborn errors of metabolism represent a special challenge in general and paediatric practice. The development and prognosis of the affected child may depend on rapid and effective treatment, but the large number of genetic disorders in various biochemical pathways makes it difficult to be familiar with diagnostic strategies and specific therapies. With this in mind, the Vademecum Metabolicum aims to provide practical guidance to the clinician. The second edition has been extensively updated and expanded. The first section summarises the differential diagnosis and management strategies for a large number of clinical situations, and describes indications and requirements for all relevant metabolic investigations. The second section explains the metabolic pathways in detail. Clinical characteristics, diagnostic approaches and the basis of therapy are discussed for more than 300 individual disorders. Foreword by James V. Leonard, London
Author: Georg F. Hoffmann
Release Date: 2016-09-20
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.
Accès immédiat à l’avis de l’expert ... Il arrive fréquemment qu’un médecin soit amené à prendre en charge un patient atteint d’une maladie héréditaire du métabolisme. Ceci peut être une situation délicate, particulièrement en cas d’urgence lorsque des investigations rapides et un traitement efficace sont cruciaux afin d’assurer un bon pronostic. C’est dans de telles situations qu’il est utile d’avoir sous la main le Vademecum Metabolicum. Ce livre concis ... explique les signes cliniques caractéristiques pour chaque groupe de maladies métaboliquesdécrit les principaux diagnostics différentielsrésume les principales caractéristiques de toutes les maladies métaboliques pour le clinicien Avec une telle approche unique, une accessibilité facile et une version dans 10 langues différentes, le Vademecum Metabolicum est le livre sur les maladies héréditaires du métabolisme qui a le plus de succès au monde! Il est très apprécié par les médecins de toutes spécialités (en particulier, pédiatres, généticiens, médecins généralistes, neurologues, biologistes) ainsi que les sages-femmes, les infirmières et les étudiants en médecine.
Author: Johannes Zschocke
Release Date: 2015-03-16
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Author: Laurie E. Bernstein
Release Date: 2015-06-03
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.
Author: Beat Thöny
Publisher: Springer Science & Business Media
Release Date: 2008-05-31
This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.
Author: Paritosh Prasad
Publisher: Lippincott Williams & Wilkins
Release Date: 2012-02-17
Prepared by residents and attending physicians at Massachusetts General Hospital for Children, Pocket Pediatrics follows the style of Pocket Medicine, one of the best-selling references for medical students, interns, and residents. This pocket-sized looseleaf can be used on the wards and by candidates reviewing for pediatric board exams. In bulleted lists, tables, and algorithms, Pocket Pediatrics provides key clinical information about common pediatric problems in cardiology, pulmonology, gastroenterology, nephrology, hematology-oncology, infectious diseases, endocrinology, rheumatology, and neurology as well as on the well patient and the patient in the ICU. The six-ring binder resembles the familiar "pocket brain" notebook that most students and interns carry and allows users to add notes.
Author: B. Koletzko
Publisher: Karger Medical and Scientific Publishers
Release Date: 2015-04-17
There is no other time in life when the provision of adequate and balanced nutrition is of greater importance than during infancy and childhood. During this dynamic phase characterized by rapid growth, development and developmental plasticity, a sufficient amount and appropriate composition of nutrients both in health and disease are of key importance for growth, functional outcomes such as cognition and immune response, and the metabolic programming of long-term health and well-being. This compact reference text provides concise information to readers who seek quick guidance on practical issues in the nutrition of infants, children and adolescents. After the success of the first edition, which sold more than 50'000 copies in several languages, the editors prepared this thoroughly revised and updated second edition which focuses again on nutritional challenges in both affluent and poor populations around the world. Serving as a practical reference guide, this book will contribute to further improving the quality of feeding of healthy infants and children, as well as enhancing the standards of nutritional care in sick children.
Author: Louanne Hudgins
Publisher: Oxford University Press
Release Date: 2014-05-30
Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist. Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential diagnosis. To maximize clinical utility, this handbook features: ? Prominent flow chart diagrams that graphically depict the diagnostic approach ? Concise recommendations for laboratory and/or imaging studies ? Health supervision and management strategies for the most common conditions associated with each presenting sign or symptom Whether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis.
Author: Kenneth Lyons Jones
Publisher: Elsevier Health Sciences
Release Date: 2013-08-18
Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders of unknown cause. This esteemed medical reference book provides you with complete and authoritative, yet accessible guidance to help accurately diagnose these human disorders, establish prognoses, and provide appropriate management and genetic counseling. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Recognize the visual signs of each environmental and genetic abnormality by consulting more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones. Find all the answers you need about normal and abnormal morphogenesis, minor anomalies and their relevance, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of human malformation syndromes. Efficiently identify genetic disorders in your patients with the inclusion of nearly 20 recently recognized entities/syndromes, as well as new chapters on Microdeletions and Microduplication Syndromes.
Author: T. F. Ashavaid
Publisher: Elsevier Health Sciences
Release Date: 2012-07-03
This issue of Clinics in Laboratory Medicine on the topic of Laboratory Medicine in India will be Guest Edited by Tester F. Ashavaid, PhD, FACB, CSCi, and include the following article topics: Tuberculosis; Malaria; STIs and Dengue; Visceral Leishmaniasis; Neglected Tropical Diseases; Hepatitis; HIV; Diabetes; Cardiovascular diseases; Stroke; HPV / Cervical screening; Multiple congenital anomalies; Down Syndrome/Thalessemia; Muscle dystrophy; Spinal muscular atrophy; Wilson Disease; Hemophilia; National and International Accreditation; Blood Banking regulations; Distant Testing; Clinical Trials; Medical Tourism; International Reference labs; and Diagnostics in diet.
Author: Karen W. Gripp
Publisher: Oxford University Press
Release Date: 2013-09
Thoroughly updated and revised, this new edition of the classic clinical text provides a comprehensive review of physical measurements used in the clinical evaluation of neonates, children, and adults presenting with dysmorphic features, structural anomalies, or genetic syndromes. It has been formatted as a practical manual that can be carried to the clinic or ward for an assessment of physical features and measurements.