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: Johannes Zschocke
Publisher: Georg Thieme Verlag
Release Date: 2011-08-26
Immediate access to expert advice ... Every so often a physician will be confronted with a patient who has an inborn error of metabolism. This can be a challenging situation, particularly in an emergency when rapid, specific investigations and effective treatment are essential for a good outcome. It is exactly then that it is good to have the Vademecum Metabolicum at hand. This concise book ... * explains the typical presentation patterns of the various metabolic disease groups; * describes essential differential diagnostic procedures; * summarises the main features of all metabolic diseases from the clinician’s point of view. With its unique approach, easy accessibility, and availability in 10 different Languages, Vademecum Metabolicum is the most successful book on inborn errors of metabolism worldwide! Highly valued by practitioners in all specialities (particularly paediatricians, geneticists, general physicians, neurologists, laboratory physicians) as well as midwives, nurses and medical students.
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: John Fernandes
Publisher: Springer Science & Business Media
Release Date: 2013-03-14
This clinical book facilitates the diagnosis of metabolic diseases. Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms necessary for establishing the diagnosis and differential diagnosis. The metabolic derangement is described in great detail and illustrated in a uniform way, thus affording clarification and better understanding of the treatment. The topics covered range from the clinical approach to metabolic diseases, 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.
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: 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.
This book, combining and updating two previous editions, 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 both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
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: Louanne Hudgins
Publisher: Oxford University Press, USA
Release Date: 2014
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: 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.