Download or read book Genetic Diagnosis of Endocrine Disorders written by Roy E. Weiss and published by Academic Press. This book was released on 2015-10-09 with total page 462 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Genetic Disorders of the Endocrine Glands written by David L. Rimoin and published by . This book was released on 1971 with total page 452 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genetics of Endocrine Diseases and Syndromes written by Peter Igaz and published by Springer Nature. This book was released on 2019-10-06 with total page 476 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genetic Disorders of the Endocrine Glands written by David Lawrence Rimoin and published by . This book was released on 1967 with total page 702 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genetic Disorders of Endocrine Neoplasia written by Patricia L. M. Dahia and published by Karger Medical and Scientific Publishers. This book was released on 2001-01-01 with total page 226 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genetic Disorders of the Endocrine Glands by David L Rimoin and R Neil Schimke written by David L. Rimoin and published by . This book was released on 1971 with total page 383 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genetics for Endocrinologists written by Benjamin Glaser and published by Remedica Books. This book was released on 2003 with total page 436 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Endocrine and Genetic Diseases of Childhood written by Lytt I. Gardner and published by . This book was released on 1969 with total page 1140 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genetics in Endocrinology written by John D. Baxter and published by Lippincott Raven. This book was released on 2002 with total page 792 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Endocrine and Genetic Diseases of Childhood and Adolescence written by Lytt I. Gardner and published by . This book was released on 1975 with total page 1404 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Endocrine System written by Michael R. Wilson and published by The Rosen Publishing Group, Inc. This book was released on 2009-01-15 with total page 67 pages. Available in PDF, EPUB and Kindle. Book excerpt: The endocrine system, which controls the secretion of hormones in the body, plays a major role in sexual health. In this book, readers will learn all about endocrine glands, the hormones they secrete, and what happens when the endocrine system fails to do its job.
Download or read book Genetic Steroid Disorders written by Maria I. New and published by Academic Press. This book was released on 2023-06-14 with total page 470 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Genetics of Endocrine Disorders An Issue of Endocrinology and Metabolism Clinics of North America E Book written by Constantine A. Stratakis and published by Elsevier Health Sciences. This book was released on 2017-05-11 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Neurological and Psychiatric Disorders in Endocrine Diseases written by Gianluca Tamagno and published by Frontiers Media SA. This book was released on 2015-07-16 with total page 99 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurological and psychiatric disorders can occur in endocrine diseases either in the setting of the clinical manifestations of the same (i.e., hyper- or hyposecretion of hormones or peptides from the endocrine glands) or as events secondary to the pathogenetic mechanisms of the endocrinopathy (i.e., autommunity affecting endocrine glands and the brain). Also the medical or surgical treatment of the endocrine disease can sometimes determine the occurrence of neurological or psychiatric abnormalities. Moreover some genetic alterations can lead to syndromes affecting both the endocrine and the nervous system with a variety of possible manifestations. In the last couple of decades a number of associations between dysfunctions of the endocrine system and neurological or psychiatric manifestations have appeared and only in the minority of the cases this link has been fully elucidated. Often the neurological or psychiatric alterations still represent a relevant challenge for clinicians with regard to the management of the patients. The complexity of the topic and the limited availability of laboratory research models for the study of the endocrine system-nervous system cross-interaction are making the scientific progresses intricate and, sometimes, slow. A dedicated focus to such broad and often still obscure topic might help and clarify the current state-of-the-art in the field and direct the goals of future research.
Download or read book Endocrine and Metabolic Disorders written by Dante Banks and published by Hayle Medical. This book was released on 2019-06-18 with total page 277 pages. Available in PDF, EPUB and Kindle. Book excerpt: The disorders of the endocrine system are known as endocrine disorders. Major endocrine glands are the pineal and the pituitary glands, the thymus, thyroid gland, adrenal gland, the pancreas and the ovary and the testes. Endocrine disorders include endocrine gland hypersecretion that leads to excessive hormone production, endocrine gland hyposecretion which leads to hormone deficit, and benign or malignant tumors of the endocrine glands. When abnormal chemical reactions occur in the body and alters the normal metabolic process of the body, it results in a metabolic disorder. It is an inherited genetic condition that creates an enzyme deficiency. The symptoms of metabolic disorders can be categorized as acute, progressive general, late-onset acute and permanent. Some common symptoms are weight loss, lethargy, seizures and jaundice. This book contains some path-breaking studies related to endocrine and metabolic disorders. It unravels the recent studies in the diagnosis, prevention and management of these disorders. For all readers who are interested in these domains, the case studies included in this book will serve as an excellent guide to develop a comprehensive understanding.
Download or read book Endocrine Tumor Syndromes and Their Genetics written by Constantine A. Stratakis and published by Karger Medical and Scientific Publishers. This book was released on 2013 with total page 202 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Endocrine Pathophysiology written by Eric I. Felner and published by Lippincott Williams & Wilkins. This book was released on 2013-10-28 with total page 498 pages. Available in PDF, EPUB and Kindle. Book excerpt: Endocrine Pathophysiology offers a comprehensive introduction to diseases of the endocrine system. Rather than providing an overwhelming amount of content on one subject, this book serves as a bridge between basic endocrine physiology and endocrine disorders. Included in the text are case studies covering a variety of endocrine disorders in both inpatient and outpatient settings. With the changes in many medical school curriculums to a clinically-based curriculum, this book provides a cutting-edge approach to endocrine pathophysiology.
