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 Pheochromocytoma written by Karel Pacak and published by John Wiley & Sons. This book was released on 2008-04-15 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

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 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 Endocrine Tumor Syndromes and Their Genetics written by C.A. Stratakis and published by Karger Medical and Scientific Publishers. This book was released on 2013-03-20 with total page 202 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 Core Topics in Endocrinology in Anaesthesia and Critical Care written by George M. Hall and published by Cambridge University Press. This book was released on 2010-04-01 with total page 203 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

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 Practical Clinical Endocrinology written by Peter Igaz and published by Springer Nature. This book was released on 2021-02-24 with total page 533 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Endocrine Neoplasia written by Cord Sturgeon and published by Springer Science & Business Media. This book was released on 2009-12-03 with total page 347 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Genetic Mechanisms in Multiple Endocrine Neoplasia Type 2 written by Barry D. Nelkin and published by Springer Science & Business Media. This book was released on 2013-11-21 with total page 245 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Neurocutaneous Disorders written by Martino Ruggieri and published by Springer Science & Business Media. This book was released on 2009-10-01 with total page 1052 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book provides an authoritative source of knowledge about these problematic disorders. It bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.

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 Gigantism and Acromegaly written by Constantine A. Stratakis and published by Academic Press. This book was released on 2021-06-01 with total page 312 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Download or read book Endocrine Pathology with Online Resource written by Ozgur Mete and published by Cambridge University Press. This book was released on 2016-07-14 with total page 1091 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Atlas of Genodermatoses written by Ruggero Caputo and published by CRC Press. This book was released on 2005-12-12 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt: A lavishly illustrated guide to almost 200 inherited diseases of the skin, hair, and nails. Each entry includes synonyms, age of onset, clinical findings, complications, course, laboratory findings, diagnosis, therapy, and key references, adding up to far more than just a collection of photographs. In addition to being a clinical primer, this is also a work of scientific research and contains the first printed description of two new syndromes. The fast-moving world of genetic research means that the latest genetic correlations, included here, render previous texts out of date. All specialists in Dermatology and Pediatrics should find this an invaluable front-line resource in the clinic.

Download or read book Endocrine Surgery Comprehensive Board Exam Guide written by Alexander L. Shifrin and published by Springer Nature. This book was released on 2022-01-19 with total page 1117 pages. Available in PDF, EPUB and Kindle. Book excerpt: Every surgical subspecialty has been rapidly developing with establishment of the board certification. The Division of Endocrine Surgery (DES) of the European Board of Surgery has defined the curriculum for Endocrine Surgery to include thyroid, parathyroid, adrenal and GEP-NET surgery, and handles accreditation in Endocrine Surgery. The first examinations in Endocrine Surgery in Europe have been introduced in 2003. The main goal of the exam is to maintain a uniform and high standard of endocrine surgical professionalism across the Europe. This book was completed with the expectation that it would benefit all European surgeons looking to be certified in Endocrine Surgery. Additionally, surgeons from the United States and other non-EU countries we hope will also benefit from this book. There is a need for a specialized book that reviews evidence based endocrine surgery that aligns itself with current curriculum standards in the field. The book contains knowledge that is expected to be known on the board examination of the DES. In general, chapters start with a patient’s case followed by questions. The subsequent comprehensive yet concise main text provides all the information needed for a successful DES exam and cites important references. After the patient case and questions, the text goes on to define the condition, the standard of care approach to establish the diagnosis, perform diagnostic tests of choice, review evidence-based treatment options including medical therapy, preparation for surgery. The chapters conclude with follow up care and long term outcomes. The topics discussed within this book closely follow the curriculum of the European Board of Surgery Examination. Written by experts in the field, Endocrine Surgery Comprehensive Board Exam Guide is a valuable source of preparation for the Endocrine Surgery examination and brings Endocrine Surgery to a higher level of expertise by helping to raise the standard of training for future endocrine surgeons.

Download or read book Genetics of Bone Biology and Skeletal Disease written by Rajesh V. Thakker and published by Academic Press. This book was released on 2017-10-31 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder