Genetic Disorders Of Endocrine Neoplasia
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Genetic Disorders Of Endocrine Neoplasia
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Author : Patricia L. M. Dahia
language : en
Publisher: Karger Medical and Scientific Publishers
Release Date : 2001-01-01
Genetic Disorders Of Endocrine Neoplasia written by Patricia L. M. Dahia and has been published by Karger Medical and Scientific Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2001-01-01 with Medical categories.
The genetics of endocrine cancers is clearly an area where new scientific discoveries that have occurred in the past few years have already been translated into clinical practice. This volume attempts to provide a state-of-the-art review of some of the most relevant inherited syndromes that share a higher susceptibility to the development of endocrine tumors. It focuses on familial tumor syndromes for which the primary gene defect has been well characterized or recently identified. An overview of cloning strategies and gene characterization in cancer is combined with detailed discussions of clinical aspects and molecular features of heritable endocrine neoplastic diseases, such as MEN 1 and MEN 2 and Von Hippel-Lindau Disease. Studies on the PTEN gene, the first known phosphatase to lead to cancer when disrupted, are discussed in detail. Also included is the recent identification and partial characterization of one of at least two genes for Carney Complex, PRKARIA. The authors place special emphasis on testing and screening strategies which now allow a much earlier identification of family members at risk. The challenge for the 21st century will be to develop equal progress in pharmacological prevention and cure based on the knowledge of the function of these susceptibility genes and their targets.
Endocrine Tumor Syndromes And Their Genetics
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Author : Constantine A. Stratakis
language : en
Publisher: Karger Medical and Scientific Publishers
Release Date : 2013
Endocrine Tumor Syndromes And Their Genetics written by Constantine A. Stratakis and has been published by Karger Medical and Scientific Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013 with Medical categories.
From classic MEN syndromes to various germline and somatic mutations in sporadic tumors In these times, a book should aspire to present the most significant advances in the field, reflect the themes of the moment, and provide a useful compendium for future reference. This book accomplishes all three objectives by discussing the changing world of modern genetics in endocrine tumors and its impact on clinical practice. Clinicians have to incorporate modern genetics and systems biology in their daily practice. Educators and researchers have to introduce molecular pathways and their genetic variability in their teaching, as well as understanding of classic physiology and pathophysiology. Taking these aspects into account, the chapters in this book cover both the classic multiple endocrine neoplasia (MEN) syndromes, as well as newly described ones, such as Carney triad and Carney- Stratakis syndrome. Furthermore, the genetics of paragangliomas as well as thyroid, parathyroid, and pituitary tumors are examined. Outlining the latest research and its obvious implications for our understanding the genetics of endocrine tumor formation and molecular biology of cancer and their potential therapeutic implications, this book is not only useful for researchers but even more so for practicing clinicians, in particular internists, endocrinologists, oncologists, pediatricians, surgeons, pathologists, geneticists, and genetic counselors.
Genetic Diagnosis Of Endocrine Disorders
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Author : Roy E. Weiss
language : en
Publisher: Academic Press
Release Date : 2015-10-09
Genetic Diagnosis Of Endocrine Disorders written by Roy E. Weiss and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-10-09 with Medical categories.
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
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Author : Peter Igaz
language : en
Publisher: Springer Nature
Release Date : 2019-10-06
Genetics Of Endocrine Diseases And Syndromes written by Peter Igaz and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-10-06 with Science categories.
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.
Genetic Mechanisms In Multiple Endocrine Neoplasia Type 2
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Author : Barry D. Nelkin
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-11-21
Genetic Mechanisms In Multiple Endocrine Neoplasia Type 2 written by Barry D. Nelkin and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-11-21 with Medical categories.
This book examines what is known about the molecular biology of multiple endocrine neoplasia, type 2 (MEN2). Mutations and alterations in gene expressions and signal transduction are placed in the context of their effects on the biology of the thyroid and adrenal cells which generate cancers in MEN2. Thus, this volume addresses the ret mutations, the effects these mutations may have on signal transduction, and developmental and neurobiological aspects of the cells affected of MEN2, and provides the basic researcher - in genetics, signal transduction, cell transformation, developmental or neurobiology - with a better understanding of how the knowledge generated by each of these fields intercalates within the overall biology of MEN2.
Genetics Of Endocrine Disorders An Issue Of Endocrinology And Metabolism Clinics Of North America E Book
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Author : Constantine A. Stratakis
language : en
Publisher: Elsevier Health Sciences
Release Date : 2017-05-11
Genetics Of Endocrine Disorders An Issue Of Endocrinology And Metabolism Clinics Of North America E Book written by Constantine A. Stratakis and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-05-11 with Medical categories.
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.
Polyendocrine Disorders And Endocrine Neoplastic Syndromes
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Author : Annamaria Colao
language : en
Publisher: Springer
Release Date : 2021-08-11
Polyendocrine Disorders And Endocrine Neoplastic Syndromes written by Annamaria Colao and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-08-11 with Medical categories.
This comprehensive reference book is meant to support clinicians in the diagnosis and treatment of polyendocrine diseases and endocrine neoplastic syndromes. Although a large majority of endocrine diseases present as sporadic cases, an increasing proportion can be identified as part of a polyendocrine or systemic syndrome. These include autoimmune endocrine diseases, which may be part of autoimmune polyendocrine disorders (APS) or rare complex disorders such as POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes) or IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndromes. On the other hand, endocrine tumors may develop in a variety of clinical conditions, including multiple endocrine neoplasia (MEN) syndromes, syndromic diseases such as McCune Albright or Carney’s complex, or peculiar familial associations such as pheochromocytoma/paraganglioma syndromes. The book discusses the significant advances that have been made in the clinical and genetic characterization of such entities, with major implications in terms of diagnosis and clinical management - with special attention to emerging syndromes, familial screening , multidisciplinarity and multimodal treatment. This volume is intended for clinicians, residents, specialists and physicians involved in the diagnosis and treatment of affected patients, including specialists in endocrinology, internal medicine, oncology , genetics and imaging.
Pathology And Genetics Of Tumours Of Endocrine Organs
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Author : Ronald A. DeLellis
language : en
Publisher: IARC
Release Date : 2004
Pathology And Genetics Of Tumours Of Endocrine Organs written by Ronald A. DeLellis and has been published by IARC this book supported file pdf, txt, epub, kindle and other format this book has been release on 2004 with Medical categories.
This vol. was produced in collaboration with the International Academy of Pathology (IAP). - This publication reflects the views of a working group that convened for an editorial and consensus conference in Lyon, France, April 23-26, 2003
Pheochromocytoma
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Author : Karel Pacak
language : en
Publisher: John Wiley & Sons
Release Date : 2008-04-15
Pheochromocytoma written by Karel Pacak and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-04-15 with Medical categories.
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
Endocrine Neoplasia
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Author : Cord Sturgeon
language : en
Publisher: Springer Science & Business Media
Release Date : 2009-12-03
Endocrine Neoplasia written by Cord Sturgeon and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009-12-03 with Medical categories.
Endocrine Neoplasia is a comprehensive, updated, and clearly-written text covering the diseases for which endocrine surgical expertise is often needed. We look towards advances in the science and the art of endocrine surgery to continuously improve outcomes for our patients. The goal of this text was to provide a detailed description of both the underlying science of disease as well as the art of clinical management. The book is divided into five sections addressing neoplasms of the thyroid, parathyroid, adrenal gland, neuroendocrine pancreas, and multiple endocrine neoplasia. Experts from the United States, Canada, and Australia have contributed chapters addressing both the biology of endocrine tumors and the clinical management of disease. Recent discoveries regarding the genetic underpinnings of disease are highlighted. Updated consensus guidelines were used for clinical recommendations. The management of complex and often confusing clinical problems is discussed in detail.