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Genetic Diagnosis of Endocrine Disorders

Genetic Diagnosis of Endocrine Disorders
Author: Roy E. Weiss
Publisher: Academic Press
Total Pages: 462
Release: 2015-10-09
Genre: Science
ISBN: 0128011343
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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

Genetics of Endocrine Diseases and Syndromes

Genetics of Endocrine Diseases and Syndromes
Author: Peter Igaz
Publisher: Springer Nature
Total Pages: 476
Release: 2019-10-06
Genre: Science
ISBN: 3030259056
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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.

Genetics in Endocrinology

Genetics in Endocrinology
Author: John D. Baxter
Publisher: Lippincott Raven
Total Pages: 792
Release: 2002
Genre: Medical
ISBN:
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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.

Diagnostics of Endocrine Function in Children and Adolescents

Diagnostics of Endocrine Function in Children and Adolescents
Author: Michael B. Ranke
Publisher: Karger Medical and Scientific Publishers
Total Pages: 548
Release: 2011
Genre: Medical
ISBN: 3805594143
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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.

Genetics for Endocrinologists

Genetics for Endocrinologists
Author: Benjamin Glaser
Publisher: Remedica Books
Total Pages: 436
Release: 2003
Genre: Endocrine genetics
ISBN:
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This text was conceived as a tool to address the problems encountered by an endocrinologist when sureveying the wealth of information available from the past two decades of genetic research. The ability to pinpoint genetic defects responsible for a specific endocrine disorder opens the possibility of faster and simpler diagnosis, improved understanding of disease mechanisms, and development of new treatment modalities. However, the abundance of information attained may be so overwhelming that the practicing physician may be unable to apply this knowledge to the daily routine of clinical practice.

Pediatric Endocrinology

Pediatric Endocrinology
Author: Sally Radovick
Publisher: Springer Science & Business Media
Total Pages: 616
Release: 2013-02-20
Genre: Medical
ISBN: 1607613956
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A state-of-the-art and concise guide to the clinical management of pediatric endocrine disorders, the second edition of the highly regarded Pediatric Endocrinology: A Practical Clinical Guide covers the most common and challenging conditions seen by practicing endocrinologists and primary care physicians, including growth, hypothalamic, pituitary, adrenal, thyroid, calcium and bone, and reproductive disorders, as well as metabolic syndromes. This expanded second edition includes new topics being seen more commonly in pediatric endocrinology practices related to obesity and type 2 diabetes mellitus and lipid disorders. Each chapter contains an introductory discussion of the problem, a review of the clinical features that characterize it, the criteria needed to establish a diagnosis, and a comprehensive therapy section delineating the risks and benefits of the best therapeutic options available. Invaluable tables summarize the critical factors in etiology, clinical presentation, diagnosis, and therapeutic dosages. Pediatric Endocrinology: A Practical Clinical Guide, Second Edition, is a comprehensive resource for all clinicians concerned with the myriad endocrinologic disorders seen in children and adolescents.

Early Diagnosis and Treatment of Endocrine Disorders

Early Diagnosis and Treatment of Endocrine Disorders
Author: Robert S. Bar
Publisher: Springer Science & Business Media
Total Pages: 340
Release: 2003-04-08
Genre: Medical
ISBN: 159259378X
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Most endocrine diseases can be treated successfully, and the patient's state of well-being can usually be improved. Not surprisingly, the earlier the diagnosis is made the more positive the clinical response. Early Diagnosis and Treatment (~f Endocrine Disorders focuses on early signs and symptoms of endocrine disorders and surveys the appropriate tests to document the diseases as well as current recommendations for therapy. Each chapterreviews the pathophysiology of the endocrine disease-important for understanding each disorder as well as the rationale for early therapy-and the basis for the early recognition and treatment of each condition. Although the practicing endocrinologist is likely to be quite knowledgeable regarding many of these diseases, Early Diagnosis and Treatment of Endocrine Disorders includes treatment of those conditions only recently classified as endocrine disorders, such as polycystic ovarian syndrome, obesity, and hypogonadism. The book also provides new approaches that are urgently needed to slow the epidemic of type 2 diabetes, which should be an overriding concern for all clinicians. Until now, no other endocrinology text has focused primarily on the details of early recognition and therapy of endocrine disorders. The information in Early Diagnosis and Treatment of Endocrine Disorders is presented in an orderly and easy-to-follow manner, which should greatly facilitate the early recognition of endocrine diseases by medical students, house staff, primary care physicians, and endocrinologists, the four groups of clinical personnel to which this book is specificall y directed.

Genetics of Endocrine Disorders, An Issue of Endocrinology and Metabolism Clinics of North America E-Book

Genetics of Endocrine Disorders, An Issue of Endocrinology and Metabolism Clinics of North America E-Book
Author: Constantine A. Stratakis
Publisher: Elsevier Health Sciences
Total Pages:
Release: 2017-05-11
Genre: Medical
ISBN: 0323530060
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This issue of Endocrinology and Metabolism Clinics, guest edited by Dr. Constantine A. Stratakis, is devoted to Genetics in Endocrine Disorders. Articles in this issue include: Genetics of Short Stature; Genetics of Diabetes Insipidus; Pituitary Hypoplasia; Pituitary Tumor Genetics and Associated Syndromes; Defects of Thyroid Hormone Synthesis; Molecular Genetics of Thyroid Cancer; Genetics of Hyperparathyroidism Including Parathyroid Cancer; Genetics of Adrenocortical Development and Tumors; Genetics of Congenital Adrenal Hyperplasia; Genetics of Pheochromocytomas and Related Conditions; Genetics of Multiple Endocrine Neoplasia Type 1 and Type 2 Syndromes; Genetics of Hypogonadotrophic Hypogonadism and Kallman Syndrome; Disorders of Sex Development; Genetics of Lipodystrophy; and PTEN-Spectrum Disorders.

Diagnostic Pathology: Endocrine E-Book

Diagnostic Pathology: Endocrine E-Book
Author: Vania Nosé
Publisher: Elsevier Health Sciences
Total Pages: 700
Release: 2019-04-09
Genre: Medical
ISBN: 0323554660
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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