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Author: Roy E. Weiss
Publisher: Academic Press
ISBN: 0128011343
Category : Science
Languages : en
Pages : 462
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Book Description
Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias. - Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases - Teaches the essentials of the genetic basis of disease in each major endocrine organ system - Offers expert advice from genetic counselors on how to use genetic information in counseling patients - Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing
Author: Roy E. Weiss
Publisher: Academic Press
ISBN: 0128011343
Category : Science
Languages : en
Pages : 462
Get Book Here
Book Description
Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias. - Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases - Teaches the essentials of the genetic basis of disease in each major endocrine organ system - Offers expert advice from genetic counselors on how to use genetic information in counseling patients - Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing
Author: Michael B. Ranke
Publisher: Karger Medical and Scientific Publishers
ISBN: 3805594143
Category : Medical
Languages : en
Pages : 548
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Book Description
A multitude of new developments, not only in the rapidly advancing field of molecular genetics and steroid metabolism but in all traditional areas of pediatric endocrinology, have influenced the diagnostic approach in children and adolescents with endocrine disorders, thus warranting this 4th, revised and extended edition of 'Diagnostics of Endocrine Function in Children and Adolescents'. Several chapters have been revised completely and all have been thoroughly updated. In addition, new chapters dealing with the muscle-bone unit and bone metabolism have also been incorporated. The original format of the chapters, which are a combination of in-depth discussion of the diagnostic process, practical conclusions and expert advice based on extensive experience, was maintained. Easy-to-use tables and figures allow for quick reference. Flowcharts of possible diagnostic pathways lead to the most frequent diagnoses. Presenting a broad range of diagnostic approaches, test procedures, and normative data required for establishing diagnoses for a broad spectrum of endocrine disorders, this book is an indispensable reference tool not only for endocrinologists and pediatricians but also for professionals in other specialties seeking evidence-based, rapid diagnostic solutions as the basis of advice and therapy for their patients.
Author: John D. Baxter
Publisher: Lippincott Raven
ISBN:
Category : Medical
Languages : en
Pages : 792
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Book Description
An extensive body of evidence highlights the crucial importance of endocrine genetics. Examples range from human growth disorders and obesity to cancers of the prostate and breast. A pivotal part of the Modern Endocrinology Series, this book presents major biological studies underlining the significance of data obtained from knock-out mice, as well as from transgenic animals. Gene therapy and laboratory evaluation and screening of genetic endocrine diseases are covered, as are many of the classical endocrine diseases.
Author: Peter Igaz
Publisher: Springer Nature
ISBN: 3030259056
Category : Science
Languages : en
Pages : 476
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Book Description
This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.
Author: Vania Nosé
Publisher: Elsevier Health Sciences
ISBN: 0323554660
Category : Medical
Languages : en
Pages : 700
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Book Description
Part of the highly regarded Diagnostic Pathology series, this updated volume by Dr. Vania Nosé is a visually stunning, easy-to-use reference covering 125 of the most common endocrine pathology diagnoses. Outstanding images—more than 2,400 in all—make this an invaluable diagnostic aid for every practicing pathologist, resident, or fellow. This second edition incorporates the most recent clinical, pathological, histological, and molecular knowledge in the field to provide a comprehensive overview of all key issues relevant to today’s practice. Essential knowledge in all areas of endocrine pathology, including thyroid, parathyroid, pituitary, adrenal, pancreas, skin, and inherited tumor syndromes Unsurpassed visual coverage with more than 2,400 carefully annotated clinical images, gross pathology, histology, and special and immunohistochemical stains that provide clinically and diagnostically important information on typical and variant disease features Designed to help you identify crucial elements of each diagnosis along with associated differential diagnoses and pitfalls to more quickly resolve problems during routine sign out of cases Time-saving reference features include bulleted text, a variety of test data tables, key facts in each chapter, annotated images, and an extensive index Thoroughly updated content throughout, reflecting new WHO classifications for endocrine diseases, recently discovered and newly described endocrine disease entities and genetic causes, and treatment changes of endocrine diseases New coverage of encapsulated follicular variant of papillary thyroid carcinoma (EFVPTC), with a new chapter on the new entity NIFTP, new genetic discoveries in the development of pheochromocytoma and paragangliomas, new names that demonstrate the differentiation of certain tumors, and new information on immunoglobulin G4-related disease (IgG4-RD) involving thyroid
Author: Karel Pacak
Publisher: John Wiley & Sons
ISBN: 0470766387
Category : Medical
Languages : en
Pages : 184
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Book Description
Pheochromocytomas are rare but treacherous catecholamine-producing tumors, which if missed or not properly treated, will almost invariably prove fatal. Prompt diagnosis is, therefore, essential for effective treatment, usually by surgical resection. The manifestations are diverse and the tumor can mimic a variety of conditions, often resulting in either erroneous diagnoses or a delayed diagnosis. Reflecting the recent leaps in understanding this condition, Pheochromocytoma: Diagnosis, Localization, and Treatment provides a comprehensive update on the improvements in the diagnosis, localization, management and treatment of pheochromocytomas – providing you with the latest cutting edge science alongside best clinical practice. Written by the leading names in the field, the text details the significant developments in understanding the genetics and biology of the tumors, coupled with technological advances in the fields of analytical chemistry, genomics, molecular biology and nuclear medicine. The most comprehensive book on pheochromocytoma Provides cutting edge science and clinical guidance Written by the leading names in the field Authors present their recently developed novel biochemical test for the diagnosis of Pheochromocytoma
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: Helen E. Turner
Publisher: Oxford University Press
ISBN: 019251265X
Category : Medical
Languages : en
Pages : 931
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Book Description
Oxford Desk Reference: Endocrinology provides easy access to evidence-based materials for quick consultation but also provides an in-depth expert reference for clinical practice. It covers the process of diagnosis, investigation, and management, as well as information for patients. Internationally-renowned experts have brought together evidence, guidelines and their clinical expertise to put trustworthy support at your fingertips. The vast spectrum of endocrine disorders are clearly laid out in self-contained topics for easy reference. Chapters build bridges between pathogenesis, clinical presentation, differential diagnosis and investigation to aid understanding. Careful consideration is given to establishing a diagnosis including the recognition, investigation and management of the rarer diagnoses. The practical treatment of everyday endocrine disorders and the management of life-long conditions are outlined in clear protocols. Chapters are organised by endocrine glands, disorders and syndromes and there are sections on the involvement of hormones in other specialities including endocrine oncology. The continuity from childhood to adolescent and adult endocrinology as well as the needs of older patients is explored in specific sections. Dedicated chapters cover the important roles endocrine specialist nurses play in patient management, and dietetic advice. The editors have included a wealth of practical resources including: · A speedy reference section, which provides summaries and quick direction · A patient advice and reference section, which supports face-to-face discussion with patients · A medicolegal chapter, which outlines risk and DVLA regulations Oxford Desk Reference: Endocrinology is the ideal companion for consultants, registrars associate specialists and clinical assistants as well as those from other disciplines who share endocrine clinics including endocrine surgeons, oncologists, gynaecologists and paediatricians.
Author: S.S. Nussey
Publisher: CRC Press
ISBN: 9780203450437
Category : Medical
Languages : en
Pages : 382
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Book Description
Traditionally, endocrinology textbooks have been either short notes or multi-author, multi-volume monster, all of which present clinical material last and often only briefly. Endocrinology is different and used real cases to lead readers into the text and then describes the biochemistry, physiology, and anatomy they need to understand the case. The
Author: Karel Pacak
Publisher:
ISBN: 9781573314183
Category : Adrenal Gland Neoplasms
Languages : en
Pages : 0
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Book Description
Several genetic, biochemical and radiologic discoveries have impacted the management of endocrine hypertension, while surgical procedures have revolutionized treatment of patients with endocrine hypertension. This text contains the proceedings of a 2001 workshop on the topic.
