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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: 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:
Publisher:
ISBN:
Category :
Languages : en
Pages :
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Book Description
Author: Benjamin Glaser
Publisher: Remedica Books
ISBN:
Category : Endocrine genetics
Languages : en
Pages : 436
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Book Description
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.
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: Merlin Butler
Publisher: Springer Science & Business Media
ISBN: 0387335366
Category : Medical
Languages : en
Pages : 569
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Book Description
Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS. Clinical, social, family, and community issues are explored and management strategies identified. The text presents historical, medical, and genetic information to orient the reader. The major portion deals with pragmatic guidelines, rather than research and diagnosis, and is directed to health and educational specialists in academic, clinical, and community settings. This manual is endorsed by The Prader-Willi Syndrome Association, which is recognized world-wide.
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: 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.
Author: Maria I. New
Publisher: Academic Press
ISBN: 0128214252
Category : Science
Languages : en
Pages : 470
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Book Description
Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library! Presents a comprehensive, translational look at all aspects of genetic steroid disorders in one reference work Provides a common language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to discuss and diagnose genetic steroid disorders Saves clinicians and researchers time in quickly accessing the very latest details on genetic tests and diagnoses as opposed to searching through thousands of journal articles Highlights significant discoveries with clinical relevance, presenting insight into which medications to use based on the genetic makeup of a patient Teaches the best strategies and most effective use of genetic information in the patient counseling setting
Author: Robert S. Bar
Publisher: Springer Science & Business Media
ISBN: 159259378X
Category : Medical
Languages : en
Pages : 340
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Book Description
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.
