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 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 The Genetic Landscape of Diabetes written by Laura Dean and published by . This book was released on 2004 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Endocrinology written by S.S. Nussey and published by CRC Press. This book was released on 2001-06-15 with total page 382 pages. Available in PDF, EPUB and Kindle. Book excerpt: Traditionally, endocrinology textbooks have been either short notes or multi-author, multi-volume monster, all of which present clinical material last and often only briefly. Endocrinology is different and used real cases to lead readers into the text and then describes the biochemistry, physiology, and anatomy they need to understand the case. The
Download or read book Principles and Practice of Endocrinology and Metabolism written by Kenneth L. Becker and published by Lippincott Williams & Wilkins. This book was released on 2001 with total page 2500 pages. Available in PDF, EPUB and Kindle. Book excerpt: Established as the foremost text in the field, Principles and Practice of Endocrinology and Metabolism is now in its thoroughly revised, updated Third Edition. This practical, clinically relevant, and comprehensive text covers the entire field of endocrinology and metabolism, including the diffuse endocrine system; morphology and physiology; diagnosis and treatment of endocrine diseases; endocrinology of the female; hormones and cancer; and much more. The Third Edition contains new chapters reflecting the latest advances and features expanded coverage of genetics and the endocrinology of sepsis. More than 1,400 illustrations complement the text. A drug formulary appears at the back of the book.
Download or read book Hormone Resistance and Hypersensitivity written by M. Maghnie and published by Karger Medical and Scientific Publishers. This book was released on 2013-02-04 with total page 170 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over recent years, impressive advances in genetic/epigenetic technology have greatly improved the understanding of the pathogenesis of pediatric endocrine diseases due to hormone resistance and hypersensitivity.This book presents reviews of thyroid hormone and thyroid hormone receptor resistance, and genetics and epigenetics of parathyroid hormone resistance. Abnormalities of the pituitary-gonadal axis affecting puberty as well as androgen receptor are covered. Novel insights into the diseases affecting ACTH, glucocorticoid and aldosterone receptors are discussed. Further chapters address new aspects of the physiology of the GH and IGF-1 axis as well as the diseases related to GH-IGF-1 receptor and post-receptor signaling defects. A key chapter on metabolic insights into insulin resistance is also included. Covering clinical and genetic aspects of hormone resistance and hypersensitivity, this book will be a useful tool in the hands of scientists, physicians and other healthcare professionals who wish to be up to date with novel research findings in this area.
Download or read book Medical Genetics written by G. Bradley Schaefer and published by McGraw Hill Professional. This book was released on 2013-11-22 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.
Download or read book Practical Endocrinology and Diabetes in Children written by Malcolm D. C. Donaldson and published by John Wiley & Sons. This book was released on 2019-04-15 with total page 327 pages. Available in PDF, EPUB and Kindle. Book excerpt: The revised and updated fourth edition of Practical Endocrinology and Diabetes in Children offers a practical, highly clinical and up-to-date handbook of paediatric endocrinology and diabetes. The book is written in clear terms and offers a user-friendly format that is designed to be concise, yet comprehensive.. The international panel of expert contributors explore the range of endocrine disorders in children including growth, thyroid, adrenal and problems related to puberty.
Download or read book Greenspan s Basic and Clinical Endocrinology Tenth Edition written by David G. Gardner and published by McGraw Hill Professional. This book was released on 2017-10-13 with total page 941 pages. Available in PDF, EPUB and Kindle. Book excerpt: A full-color guide to the entire field of clinical endocrinology and its scientific underpinnings – updated with the latest breakthroughs and developments A Doody’s Core Title for 2021! Greenspan’s Basic & Clinical Endocrinology delivers a succinct, leading-edge overview of the underlying molecular biology of the endocrine system and the latest perspectives on the diagnosis and treatment of specific diseases and disorders. Featuring an enhanced design that includes hundreds of full-color illustrations and clinical photographs, Greenspan’s is a true must-have during traditional or integrated courses in endocrinology, endocrinology rotation, or exam prep in internal medicine and endocrinology and as reference for disease management. Greenspan’s provides clinically relevant coverage of metabolic bone disease, pancreatic hormones and diabetes mellitus, hypoglycemia, obesity, geriatric endocrinology, and many other diseases and disorders. Supporting this essential material is a handy appendix of normal hormone reference ranges across the lifespan. Here’s why Greenspan’s is an essential tool for learning how to manage endocrine patients: • The Tenth Edition is enhanced by updated content throughout each chapter • NEW CHAPTERS on Transgender Endocrinology and Disorders of Sexual Determination and Differentiation • Important chapter on Evidence-Based Endocrinology and Clinical Epidemiology • Concise, balanced coverage of both scientific and clinical principles that guide patient management • The best source for current concepts in endocrine pathophysiology to aid clinical decision making • The most practical, current insights into diagnostic testing • More than 270 full-color illustrations and clinical photographs If you are in need of a well-illustrated, completely up-to-date guide to the entire field of clinical endocrinology, this trusted classic belongs on your desk or computer.
Download or read book Advances in Molecular and Cellular Endocrinology written by D. LeRoith and published by Elsevier. This book was released on 1997-03-25 with total page 289 pages. Available in PDF, EPUB and Kindle. Book excerpt: Historically the field of endocrine research has always been at the forefront of scientific endeavors. The investigators of these important breakthroughs in research have been rewarded by numerous Nobel awards. In the field of diabetes alone, Nobel prizes have been awarded to researchers who discovered insulin, characterized the protein and invented radioimmunoassays using insulin as a paradigm. Not surprisingly, biomedical researchers have always been attracted by the endocrine system and other similar systems of intercellular communication.Over the past two decades, endocrine research has developed rapidly and adapted modern molecular and cellular biology techniques for its specific use. These changes have allowed researchers in the field to maintain their edge. Thus, endocrine disease-related genes have been characterized and mutations in these genes have helped explain common and less common endocrine disorders. Our understanding of the regulation of gene expression has been greatly enhanced by molecular techniques. In an attempt to bring investigators up to date with the recent advances in this exploding field we have decided to publish a series entitled Advances in Molecular and Cellular Endocrinology. Internationally famous investigators have agreed to participate and their contributions are appreciated. Volume 1 has focused on aspects of the hypothalamic-pituitary axis including GnRH and GH gene regulation, molecular aspects of insulin, insulin-like growth factors and glucagon. In addition, reviews on the recently cloned calcium receptor and steroid receptor interactions with DNA are presented.
Download or read book WHO Classification of Tumours of Endocrine Organs written by Ricardo V. Lloyd and published by WHO Classification of Tumours. This book was released on 2017 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The WHO Classification of Tumours of Endocrine Organs is the 10th volume in the 4th Edition of the WHO series on histological and genetic typing of human tumours. This authoritative, concise reference provides an international standard for oncologists and pathologists and will serve as an indispensable guide for use in the design of studies evaluating response to therapy and clinical outcome. Diagnostic criteria, pathological features, and associated genetic alterations are described in a disease-oriented manner. Sections on all recognized neoplasms and their variants include new ICD-O codes, epidemiology, clinical features, pathology, genetics, prognosis, and predictive factors. The book, prepared by 166 authors from 25 countries, contains more than 700 color images and tables and more than 3100 references.
Download or read book Evidence Based Endocrinology written by Camacho and published by Lippincott Williams & Wilkins. This book was released on 2012 with total page 441 pages. Available in PDF, EPUB and Kindle. Book excerpt: This pocket-sized quick-reference handbook presents evidence-based recommendations for diagnosis and treatment of endocrine disorders. The authors summarize the latest and best clinical studies supporting the practice recommendations and grade each study to indicate the benefits and risks of the therapy and the reliability of the study results. Chapters cover disorders in the major areas of endocrinology--hypothalamic-pituitary, thyroid, adrenal, metabolic bone, reproductive, diabetes, lipid disorders, obesity and nutrition, endocrine malignancies, and genetics.
Download or read book Behavioral Endocrinology written by Jill B. Becker and published by MIT Press. This book was released on 2002 with total page 812 pages. Available in PDF, EPUB and Kindle. Book excerpt: The second edition of a popular introduction to the field of behavioral endocrinology.
Download or read book Environmental Endocrinology written by I. Assenmacher and published by Springer Science & Business Media. This book was released on 2013-03-07 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt: From 11 to 15 July 1977 about 60 physiologists, endo crinologists, ecologists and other biologists from 14 countries convened at the University Montpellier for a symposium on Environmental Endocrinology. This meet ing was organized as a Satellite Symposium of the 27th International Congress of Physiological Sciences, Paris, 18-23 July 1977. This volume is a record of the com munications presented at the symposium. The objectives of the program were to examine the role of the endocrine system in a wide spectrum of adjustments and adaptations to changes in environmental conditions by various spe cies of animals, including man, and to promote an ex change of ideas among investigators who have approached these functions from diverse aspects. The diversity of the information and ideas communicated is great. Of necessity, they represent only an extremely modest se lection of the many facets of endocrine function in the interaction of animals with their environments. Be yond the usefulness of the communications individually, we hope that they collectively demonstrate the substan tial heuristic value of the concept of environmental endocrinology as it was perceived by the participants. We acknowledge gratefully the kindness and sympathy of Professor Jaques ROUZAUD, President of the University of Montpellier II, for his generous extension of the hospitality of the University to the Symposium. We are most grateful to Mrs. Monique VIEU who effected so well the secretarial organization of the Sympos.
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
Download or read book Transition of Care written by M. Polak and published by Karger Medical and Scientific Publishers. This book was released on 2018-06-11 with total page 170 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pediatricians face many questions and challenges during patients’ transition from childhood to adulthood. Chronic diseases justify long-term medical, psychological, educational, and social management. The establishment of networks with adult endocrinologists is, therefore, very important to achieving optimal conditions for a successful transition period. In this book, leading experts discuss major public health issues such as diabetes and obesity. They also review genetic diseases, including Turner syndrome and congenital adrenal hyperplasia. All clinical cases are presented in a focused way to highlight any issues which might be discussed by the doctor with patients and family. Psychological approaches are debated as are proposals for defining specific tools to encourage autonomy during this life period. This book is a valuable tool and will be helpful in answering many questions for endocrinologists, adult and pediatric, dedicated to the long-term management of patients with chronic diseases.
