Search results for: genetics-of-endocrine-diseases-and-syndromes

Genetics of Endocrine Diseases and Syndromes

Author : Peter Igaz
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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.

Genetic Diagnosis of Endocrine Disorders

Author : Roy E. Weiss
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Since the beginning of the current century, endocrine disease diagnosis and treatment have moved beyond the standard hormone measurements. While, indeed elevated thyroid hormone levels or low insulin levels signal a specific endocrine disease, correct diagnosis (and therefore correct treatment) depends on an understanding of the molecular basis for the disease. This book presents the "bench to bedside" approach of our understanding of the genetic basis for endocrine disease. It is organized by endocrine grouping (e.g. Thyroid, Pancreas, Parathyroid, Pituitary, Adrenal, Reproductive and Bone) and genetic/molecular basis for the diagnosis of the various disorders will be discussed. Emphasis will be placed on the practical nature of diagnosing a disease. For example: 1. Which tests should be done for the diagnosis of Diabetes mellitus Type I in children who presented at less than 6 months; at less than 12 years, in adulthood, etc., and why should those tests be done?; 2. Which genes should be evaluated for subjects with congenital hypothyroidism; 3. Which genetic tests should be ordered in obesity?; 4. Which genetic test should be ordered in a patient with Parathyroid Carcinoma?; 5. What is the rationale behind testing for Multiple Endocrine Neoplasia? The field of genetic diagnosis of disease is exploding now, with multiple laboratories developing tests for current clinical use. Most practicing endocrinologists, pediatricians and internal medicine physicians don't understand which test to order, how the tests are done, or how to interpret the results. One of the most exciting development in medicine today is the pharmacogenomics revolution - enocrinologists and geneticists need to understand how personalized medicine will fit into the daily care of patients. While this is a quickly growing area and there are textbooks on pharmacogenomics, there is no one source for the spectrum of Endocrine diseases. Selected for inclusion in Doody's Core Titles 2013, an essential collection development tool for health sciences libraries Presents a comprehensive, translational look at all aspects of genetic diagnosis of endocrine disorders in one reference work Endocrinology experts (the researchers who discovered the majority of the gene mutations for a particular disease) teach readers about the molecular basis for diseases in each major endocrine organ system Clear presentation by geneticists of pharmacogenetics and the actual assays used in detecting endocrine diseases Genetic counselors offer expert advice on how to use genetic information in counseling patients

Endocrine Involvement in Developmental Syndromes

Author : Marco Cappa
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In recent years a significant improvement in the understanding of genetics and developmental syndromes has been seen. In this context, the study of endocrinological aspects in patients with genetic syndromes is acquiring increasing significance.This book documents a workshop held in Rome in April 2008 and presents recent advances in the study of developmental syndromes and epigenetics. Contributions by international experts focus on the genetic aspects of Beckwith-Wiedemann, Silver-Russel, Prader-Willi and Angelman syndromes and many more.Providing an eclectic update on the endocrine involvement in developmental syndromes, this book will be of interest to clinicians and researchers in endocrinology, pediatrics and genetics.

Genetic Disorders of Endocrine Neoplasia

Author : Patricia L. M. Dahia
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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.

The Encyclopedia of Endocrine Diseases and Disorders

Author : William A. Petit
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More than 600 A-to-Z entries cover issues related to menOCOs physical and mental health and well-being, including physiology, life span, diseases and conditions (including treatment protocols, procedures, and surgeries), genetics, medications, vitamins and supplements, psychology, sports medicine, sexual health, relationships, menOCOs fertility, fatherhood, and more. Allopathic, complementary, and integrative approaches to menOCOs health are also discussed. An extensive bibliography, a directory of leading menOCOs health research centers and organizations, and a glossary of key terms round out this comprehensive reference."

Genetics of Endocrine Disorders an Issue of Endocrinology and Metabolism Clinics of North America

Author : Constantine A. Stratakis
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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.

Endocrine Tumor Syndromes and Their Genetics

Author : C.A. Stratakis
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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 Disorders of the Endocrine Glands

Author : David L. Rimoin
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Genetics of Endocrine Disorders An Issue of Endocrinology and Metabolism Clinics of North America E Book

Author : Constantine A. Stratakis
File Size : 31.52 MB
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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.

Practical Clinical Endocrinology

Author : Peter Igaz
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This practical book aims to cover the whole scope of clinical endocrinology, including both common and selected rare but important diseases, with an emphasis on practical clinical management. A number of different questions and problems in clinical routine are discussed in this book in an unconventional format. Each topic begins with the presentation of a typical clinical case, and then the topic is approached in a question and answer format linked to the clinical case presented, highlighting the most important questions in diagnosis, differential diagnosis and therapy. Numerous figures and tables are included to help understanding. The book is chiefly intended for doctors in training (preparing for boarding exam in endocrinology or internal medicine), but also for established clinicians who want to broaden or refresh their skills. University students of medicine can also find this book interesting.