Pediatric Endocrinology and Inborn Errors of Metabolism PDF Download

Author: Kyriakie Sarafoglou
Publisher: McGraw Hill Professional
ISBN: 0071811575
Category : Medical
Languages : en
Pages : 966

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Book Description
Fast, crystal-clear guidance on managing both pediatric endocrine disorders and inborn errors of metabolism A Doody's Core Title for 2011! New England Journal of Medicine Review! "...an inspiring learning tool....Sarafoglou and colleagues have combined their expertise to create an informative and timely textbook in which the explanations of underlying mechanisms guide the structure of each chapter. It is a unique book that is pleasing to the eye, nurturing for the mind, and instructive for a broad readership."--New England Journal of Medicine 4 STAR DOODY'S REVIEW! "The book covers various pathophysiologic aspects of each endocrine organ and its interaction with other endocrine and nonendocrine systems. Disorders of thyroid and adrenal glands, pituitary, reproductive organs, and endocrine neoplasia are extensively covered. Most large groups of metabolic diseases are reviewed as well. Concise, pertinent information is provided on mitochondrial and fatty-acid oxidation, urea cycle and glycogen storage disorders, as well as organic acidurias and amino acidopathies. The most useful and user-friendly areas are the 1-to-2-page "at-a-glance" sections in each chapter which provide concise yet pertinent information about the disorders within a particular group of endocrine disturbances or IEM. This is a well written book and the multiple visual aids greatly assist in comprehension and memorization of the material...I strongly recommend this book without reservation." -- Doody's In one practical, user-friendly tutorial, a team of international contributors delivers the latest information and clinical insights you need to confidently diagnose and manage pediatric patients. This full-color resource guides you through the etiology, pathophysiology, presenting signs and symptoms, diagnostic laboratory examinations, and treatments regimens of each disorder. Features: Full-color presentation with numerous photos, illustrations, diagnostic algorithms, tables, and text boxes that summarize key concepts and assist in the decision-making process At-a-Glance feature beginning each disease-based chapter summarizes all the clinical information you need to differentiate between disorder sub-types in one easy-to-find place All-inclusive coverage encompasses the full spectrum of critical topics Emergency assessment and treatment chapter gives you fast, clear guidance on acute presentations of endocrine and metabolic disorders Chapter on newborn screening walks you through an abnormal screening result to follow-up diagnostic testing Complete and detailed information on all laboratory and radiographic testing used to diagnose disorders in both disciplines

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: Michael Kappy
Publisher: Mcgraw-hill
ISBN: 9780071605915
Category : Medical
Languages : en
Pages : 432

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Book Description
Complete how-to-guidance on the evaluation and treatment of endocrine disorders in children "Edited and written by eminent pediatric endocrinologists, this is at present the best book for fellows in training and pediatricians in practice. It comprises in 11 chapters a concise treatise of pediatric endocrine diseases, well written, easy readable, helped by titles and headings in color. Highly illustrated in color and with up-to-date references, it is highly recommended."--Pediatric Endocrinology Reviews 4 STAR DOODY'S REVIEW! "This is a truly useful book for all physicians who care for young patients with endocrine disorders....In creating a how-to guide while breaking down the molecular mechanisms of endocrine diseases, it fills a gap in currently available pediatric endocrinology literature....This excellent book makes it possible for busy first-year endocrinology fellows to gain a broad understanding of the pertinent topics in this field."--Doody's Review Service Pediatric Practice: Endocrinology is an outstanding clinical analysis and decision-making tool for those treating endocrine problems in children. Featuring an innovative problem-oriented approach, this well-illustrated, full-color guide skillfully integrates pathophysiology with clinical management. Numerous figures illustrate the principles of normal and abnormal physiology and treatment rationale and effects. No other resource offers this concise yet comprehensive review of current knowledge, links these concepts with analysis of clinical situations, and provides such practical recommendations for rational and efficient evaluation and treatment of children with endocrine disorders. Pediatric Practice: Endocrinology opens with an introductory chapter that clarifies the link between genetics, cell biology, and physiology with pathophysiology to provide a clear overview of the endocrine system. Subsequent chapters cover disorders of growth, water metabolism, thyroid and adrenal glands, bone and mineral metabolism, puberty, sex development, obesity, diabetes, and hypoglycemia. Throughout the book emphasis is placed on care of the patient, with the goal of optimizing care and improving the medical management and outcomes for these patients. More than 300 full-color images, figures, and tables enhance the presentation. Features of the Pediatric Practice Series: Tips that tell you what you must know--and what you must do--at every stage of care Diagnostic and treatment algorithms "When to Refer" boxes examine all the relevant clinical considerations Diagnostic Tests--with a realistic emphasis on the right tests to order Medical Treatment coverage that includes drugs, dosages, and administration in an easy-to-read tabular format Convenient icons and a consistent chapter design Numerous clinical color photos and didactic diagrams

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: Shaul Massry
Publisher: Springer Science & Business Media
ISBN: 1461342171
Category : Medical
Languages : en
Pages : 611

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Book Description
We present to our readers the proceedings of the Second International Workshop on Phosphate. A short account of the history of the effort led to the Phosphate Workshops is appro priate and can be of interest to the reader. The idea for Phosphate Workshops was born in the early days of November, 1974. One of us (S. G. M. ) suggested the thought to a group of scientists gathered for a luncheon in one of the attrac tive small restaurants in Weisbaden, Germany. The purpose of the workshop was to bring together interested scientists to discuss the newer developments and the recent advances in the field of phosphate metabolism and the other related minerals. An Organizing Committee made of Shaul G. Massry (USA), Louis V. Avioli (USA), Philippe Bordier (France), Herbert Fleisch (Switzerland), and Eduardo Slatopolsky (USA) was formed. The First Workshop was held in Paris during June 5-6, 1975 and was hosted by Dr. Philippe Bordier. Its proceeding was already published. The Second Workshop took place in Heidelberg during June 28-30, 1976 and was hosted by Dr. Eberhard Ritz. Both of these workshops were extremely successful scientific endeavors, and the need for them was demonstrated by the great interest they generated among the scientific community. The Or ganizing Committee, therefore, decided to continue with the tradi tion to hold additional Workshops annually or every other year.

Author: Z. Hochberg
Publisher: Karger Medical and Scientific Publishers
ISBN: 380558220X
Category : Medical
Languages : en
Pages : 117

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Book Description
A Karger 'Publishing Highlights 1890-2015' title Algorithms provide a logical, concise and cost-effective approach to medical reasoning: utilizing a concise, step-by-step approach based upon clues from the history, physical examination and laboratory studies, algorithms help avoid excessive unnecessary procedures and testing. The 2nd, revised edition of Practical Algorithms in Pediatric Endocrinology deals with practical issues of child growth, puberty, diseases of the endocrine glands, sexual differentiation, as well as aberrations of water, electrolyte, mineral and carbohydrate metabolism. Fifty clinical issues are covered by an algorithmic approach, breaking down long lists and tables of differential diagnosis into smaller, more manageable ones. Common clinical symptoms, signs and laboratory abnormalities are classified as they present themselves at the patient's bedside. This book is aimed at general practitioners and pediatricians, in particular those who are not exposed to pediatric endocrine problems on a daily basis, and at trainees in endocrinology and pediatric endocrinology as they acquire familiarity with clinical problem solving to make rational choices when facing clinical dilemmas.

Author: Johannes Zschocke
Publisher: Schattauer Verlag
ISBN: 3794528166
Category : Pediatrics
Languages : en
Pages : 188

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Author: Patricia M. Jones
Publisher: McGraw Hill Professional
ISBN: 0071839275
Category : Medical
Languages : en
Pages : 724

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Book Description
A complete full-color guide to medical laboratory test selection and test result interpretation for disorders and diagnoses specific to pediatric and neonatal populations Laboratory medicine practiced at a pediatric institution has unique characteristics specific to infants and children, who differ both metabolically and biochemically from adults. Many aspects of laboratory medicine are affected by these differences, from basic, day-to-day operational issues through test selection for pediatric-specific disorders. However, most references in laboratory medicine merely touch upon pediatrics – and offer little if any coverage of variations in testing and results for different age groups, or the many diseases and disorders most common in infants and children. Pediatric Laboratory Medicine is specifically written to fill this critical void in the literature. Now, for the first time, all important reference material concerning pediatric laboratory medicine is available in one convenient, up-to-date resource. Pediatric Laboratory Medicine teaches the effective operation of a pediatric clinical operation, and also provides guidelines for teaching trainees. This unique text delivers the how-to instruction necessary to ensure proper handling and testing of pediatric specimens to ensure accurate diagnosis. Valuable learning aids include learning objectives, end-of-chapter review questions, and references for further study. Written by experienced clinicians, the book’s seventeen chapters cover virtually every important topic – from daily issues in the practice of pediatric laboratory medicine to common tests and considerations to inborn errors of metabolism and therapeutic drug monitoring. Enhanced by numerous tables and high-quality full-color images, this authoritative resource delivers everything necessary for effective pediatric laboratory medicine training and practice.

Author: K. Tada
Publisher: Springer Science & Business Media
ISBN: 3662031477
Category : Medical
Languages : en
Pages : 421

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Book Description
Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, 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
ISBN: 1451153015
Category : Medical
Languages : en
Pages : 273

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Book Description
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.