Genetics of Endocrine Diseases and Syndromes PDF Download

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: 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: 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: George M. Hall
Publisher: Cambridge University Press
ISBN: 1139486128
Category : Medical
Languages : en
Pages : 203

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Book Description
Core Topics in Endocrinology in Anesthesia and Critical Care provides a comprehensive, practical overview of the perioperative management of patients with endocrine disorders, giving clear diagnostic advice and management guidelines. This book considers the management of patients with endocrine disorders of the pituitary, thyroid, parathyroid and adrenal glands, including rarer disorders such as MEN syndrome. It then considers all aspects of the perioperative management of diabetic patients, including paediatric, obstetric and ambulatory patients. Finally it discusses endocrine disorders in the critically ill patient, covering such issues as the topical conundrum of glucose control and the management of diabetic metabolic acidosis, thyroid storm and myxoedema coma. Every chapter reviews the relevant anatomy and pathophysiology and the latest developments in defining the genetic causes are also considered where appropriate. Core Topics in Endocrinology in Anesthesia and Critical Care is an invaluable tool for all anaesthetists and intensivists in their daily clinical practice.

Author: Constantine A. Stratakis
Publisher: Academic Press
ISBN: 0128145382
Category : Science
Languages : en
Pages : 312

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Book Description
Gigantism and Acromegaly brings together pituitary experts, taking readers from bench research, to genetic analysis, clinical analysis, and new therapeutic approaches. This book serves as a reference for growth hormone over-secretion and its diagnosis and treatment for endocrinologists, pediatricians, internists, and neurosurgeons, and for geneticists. Pharmaceutical companies may use it as a reference for drug development and research. Students, residents and fellows in medicine and endocrinology and genetics will also find it valuable as it provides a single up-to-date review of the molecular biology of gigantism and acromegaly as well as recommended approaches to evaluation and management. Acromegaly is a rare pituitary disorder that slowly changes its adult victim's appearance over time: larger hands and feet, bigger jaw, forehead, nose, and lips. Generally, a benign pituitary tumor is the cause and symptoms of acromegaly can vary from patient to patient, making a diagnosis difficult and prolonging suffering for years. Early detection is key in the management of acromegaly as the pathologic effects of increased growth hormone (GH) production are progressive and can be life-threatening as the result of associated cardiovascular, cerebrovascular, and respiratory disorders and malignancies. - Accessible, up-to-date overview of the characteristics, state-of-the-art diagnostic procedures, and management of acromegaly and gigantism - Provides a unique compendium of endocrinology, genetics, clinical diagnosis and therapeutics - Contains contributions from internationally known experts who have treated patients with acromegaly and gigantism

Author: Hans G. Beger
Publisher: John Wiley & Sons
ISBN: 1119188393
Category : Medical
Languages : en
Pages : 1218

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Book Description
This brand new updated edition of the most comprehensive reference book on pancreatic disease details the very latest knowledge on genetics and molecular biological background in terms of anatomy, physiology, pathology, and pathophysiology for all known disorders. Included for the first time, are two brand new sections on the key areas of Autoimmune Pancreatitis and Benign Cystic Neoplasms. In addition, this edition is filled with over 500 high-quality illustrations, line drawings, and radiographs that provide a step-by-step approach to all endoscopic techniques and surgical procedures. Each of these images can be downloaded via an online image bank for use in scientific presentations. Every existing chapter in The Pancreas: An Integrated Textbook of Basic Science, Medicine and Surgery, 3rd Edition has been thoroughly revised and updated to include the many changes in clinical practice since publication of the current edition. The book includes new guidelines for non-surgical and surgical treatment; new molecular biologic pathways to support clinical decision making in targeted treatment of pancreatic cancer; new minimally invasive surgical approaches for pancreatic diseases; and the latest knowledge of neuroendocrine tumors and periampullary tumors. The most encyclopedic book on the pancreas—providing outstanding and clear guidance for the practicing clinician Covers every known pancreatic disorder in detail including its anatomy, physiology, pathology, pathophysiology, diagnosis, and management Completely updated with brand new chapters Over 500 downloadable illustrations An editor and author team of high international repute who present global best-practice The Pancreas: An Integrated Textbook of Basic Science, Medicine and Surgery, 3rd Edition is an important book for gastroenterologists and gastrointestinal surgeons worldwide.

Author: Ozgur Mete
Publisher: Cambridge University Press
ISBN: 1107443318
Category : Medical
Languages : en
Pages : 1091

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Book Description
A much-needed comprehensive resource, Endocrine Pathology covers clinical, radiologic, biochemical, molecular, cytogenetic, immunologic and histopathologic aspects of endocrine disorders, including the full spectrum of both neoplastic and non-neoplastic lesions. The first section of the book provides an overview of the clinical presentations of endocrine diseases, while the second section reviews the wide variety of investigative techniques used in their diagnosis. The third and largest section provides a comprehensive tissue- and organ-based approach to the diagnosis of endocrine disorders, including morphologic, genetic and proteomic features with clinicopathologic correlations. All chapters are richly illustrated with numerous color images, tables and algorithms, and the book is packaged with a password, giving the user online access to all text and images. Written and edited by the world's leading experts, this comprehensive and up-to-date book is the definitive resource on endocrine pathology for all pathologists, endocrinologists and researchers.

Author: Dan Longo
Publisher: McGraw Hill Professional
ISBN: 0071814914
Category : Medical
Languages : en
Pages : 848

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Book Description
Hematology and Oncology – as only Harrison’s can cover it Featuring a superb compilation of chapters on hematology and oncology that appear in Harrison’s Principles of Internal Medicine, Eighteenth Edition, this concise, full-color clinical companion delivers the latest knowledge in the field backed by the scientific rigor and authority that have defined Harrison’s. You will find content from renowned editors and contributors in a carry-anywhere presentation that is ideal for the classroom, clinic, ward, or exam/certification preparation. Features Organized into twelve sections: The Cellular Basis of Hematopoiesis; Cardinal Manifestations of Hematologic Diseases; Anemias, Myeloproliferative Disorders; Hematologic Malignancies; Disorders of Hemostasis; Biology of Cancer; Principles of Cancer Prevention and Treatment; Neoplastic Disorders; Endocrine Neoplasia; Remote Effects of Cancer; and Oncologic Emergencies and Late Effects Complications Each chapter contents relevant information on the genetics, cell biology, pathophysiology, and treatment of specific disease entities Chapters on hematopoiesis, cancer cell biology, and cancer prevention reflect the rapidly growing body of knowledge in these areas Integration of pathophysiology with clinical management 153 high-yield questions and answers drawn from Harrison’s Principles of Internal Medicine Self-Assessment and Board Review, 18e Content updates and new developments since the publication of Harrison’s Principles of Internal Medicine, 18e 55 chapters written by physicians who are recognized experts in the field of hematology and oncology Helpful appendix of laboratory values of clinical importance

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: Bruno Bissonnette
Publisher: McGraw-Hill Education / Medical
ISBN:
Category : Medical
Languages : en
Pages : 988

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Book Description
Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.