Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases PDF Download
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Author: N. Blau
Publisher: Springer Science & Business Media
ISBN: 364255878X
Category : Science
Languages : en
Pages : 732
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Book Description
This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.
Author: N. Blau
Publisher: Springer Science & Business Media
ISBN: 364255878X
Category : Science
Languages : en
Pages : 732
Get Book Here
Book Description
This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.
Author: Nenad Blau
Publisher: Springer
ISBN: 3642403379
Category : Medical
Languages : en
Pages : 880
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Book Description
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: Georg F. Hoffmann
Publisher: Springer Science & Business Media
ISBN: 3540747230
Category : Medical
Languages : en
Pages : 380
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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: Carla E. M. Hollak
Publisher: Oxford University Press
ISBN: 0199972133
Category : Medical
Languages : en
Pages : 657
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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.
Author: N. Blau
Publisher: CRC Press
ISBN: 9780412575600
Category : Medical
Languages : en
Pages : 544
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Book Description
University of Zurich, Switzerland. Handbook of inherited metabolic diseases, for physicians, clinical chemists, biochemists, and pathologists. Discusses testing and treatment options of inborn errors of metabolism. Extensive tables and flowcharts. 51 contributors, 16 U.S.
Author: Johannes Zschocke
Publisher: Schattauer Verlag
ISBN: 3794528166
Category : Pediatrics
Languages : en
Pages : 188
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Book Description
Author: Kelly Small Casler, DNP, APRN, FNP-BC, CHSE
Publisher: Springer Publishing Company
ISBN: 0826140939
Category : Medical
Languages : en
Pages : 1111
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Book Description
"[the authors] did a masterful job of creating and editing this gold standard book that should be used by all clinicians and incorporated into all nursing and health sciences curriculums." -Bernadette Mazurek Melnyk, PhD, APRN-CNP, FNAP, FAANP, FAAN Vice President for Health Promotion University Chief Wellness Officer Dean and Helene Fuld Health Trust Professor of Evidence-Based Practice, College of Nursing Professor of Pediatrics & Psychiatry, College of Medicine Executive Director, the Helene Fuld Health Trust National Institute for EBP The Ohio State University This is the only book to explicitly guide clinicians through an evidence-based approach to ordering and interpreting laboratory tests. With over 160 commonly ordered tests, this book is designed to foster more accurate clinical decision-making to attain the highest level of patient care. This book summarizes more than 3000 pieces of evidence and incorporates clinical expertise and decision-making on the ordering and interpretation of tests. To promote ease of use, a convenient table maps labs and their corresponding chapter numbers to the relevant body system to promote ease of use. Each laboratory test is presented in a consistent format with information on physiology, indications (screening, diagnosis, and monitoring), algorithms, test interpretation and follow-up testing, patient education, and related diagnoses. Additional valuable features include clinical pearls that highlight common pitfalls and gaps in reasoning, and a cost-benefit analysis. This book also includes CPT and ICD-10 codes, charts and tables for clarification, and references for further study. Key Features: Delivers a strong, evidence-based approach to ordering and interpreting over 160 laboratory tests Promotes accurate clinical decision-making toward achieving the Triple Aim Includes abundant clinical pearls highlighting common pitfalls and gaps in reasoning Provides cost-benefit analysis and discussion of laboratory testing within a high-value healthcare culture Includes 175 supplemental case examples and 200 self-assessment questions to facilitate instruction and learning Includes more than 3000 pieces of evidence from interprofessional resources
Author: Laurie E. Bernstein
Publisher: Springer Nature
ISBN: 3030945103
Category : Medical
Languages : en
Pages : 415
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Book Description
This text presents a compilation of topics that have been taught at Metabolic University (MU), an interactive, didactic educational program that has trained over 600 metabolic dietitians/nutritionists, physicians, nurses and genetic counselors. This book was created in 2014 for the metabolic community. The 1st edition contains only subject matter covered at Metabolic University; therefore, it is not a comprehensive treatise on Inherited Metabolic Disorders (IMD) but rather a text on the most frequently encountered challenges in IMD nutrition. Each chapter in the book highlights principles of nutrition management, how to initiate a diet, and biomarkers to monitor the diet. Recognizing that there are variations in practice, this book addresses that the key to management lies in the understanding how the inactivity of an enzyme in a metabolic pathway determines which components of the diet must be restricted and which must be supplemented as well as the monitoring of appropriate biomarkers to make diet adjustments and ensure the goals of therapy are met The 2nd edition is an updated and more extensive version covering the nutrition management of IMD, and 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 also addressed. In addition, current medical management therapies is included.
Author: Nenad Blau
Publisher: Springer Science & Business Media
ISBN: 3540289623
Category : Medical
Languages : en
Pages : 404
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Book Description
This reference provides concise information on the treatment and management of inherited metabolic diseases for the clinician. World experts cover all commonalities of therapy giving practical advice and guidance for daily practice. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables, figures, and several indices (symptom, disease name, tests, etc.) allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.
Author: Didier Raoult
Publisher: CRC Press
ISBN: 142001997X
Category : Medical
Languages : en
Pages : 400
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Book Description
The only available reference to comprehensively discuss the common and unusual types of rickettsiosis in over twenty years, this book will offer the reader a full review on the bacteriology, transmission, and pathophysiology of these conditions. Written from experts in the field from Europe, USA, Africa, and Asia, specialists analyze specific patho
