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 472 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 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 The Genetics of Endocrine Disorders written by Maria I New, M.D. and published by . This book was released on 2000-10-01 with total page 400 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 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 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 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 Oxford Desk Reference Endocrinology written by Helen E. Turner and published by Oxford University Press. This book was released on 2018-06-21 with total page 544 pages. Available in PDF, EPUB and Kindle. Book excerpt: Oxford Desk Reference: Endocrinology provides easy access to evidence-based materials for quick consultation but also provides an in-depth expert reference for clinical practice. It covers the process of diagnosis, investigation, and management, as well as information for patients. Internationally-renowned experts have brought together evidence, guidelines and their clinical expertise to put trustworthy support at your fingertips. The vast spectrum of endocrine disorders are clearly laid out in self-contained topics for easy reference. Chapters build bridges between pathogenesis, clinical presentation, differential diagnosis and investigation to aid understanding. Careful consideration is given to establishing a diagnosis including the recognition, investigation and management of the rarer diagnoses. The practical treatment of everyday endocrine disorders and the management of life-long conditions are outlined in clear protocols. Chapters are organised by endocrine glands, disorders and syndromes and there are sections on the involvement of hormones in other specialities including endocrine oncology. The continuity from childhood to adolescent and adult endocrinology as well as the needs of older patients is explored in specific sections. Dedicated chapters cover the important roles endocrine specialist nurses play in patient management, and dietetic advice. The editors have included a wealth of practical resources including: · A speedy reference section, which provides summaries and quick direction · A patient advice and reference section, which supports face-to-face discussion with patients · A medicolegal chapter, which outlines risk and DVLA regulations Oxford Desk Reference: Endocrinology is the ideal companion for consultants, registrars associate specialists and clinical assistants as well as those from other disciplines who share endocrine clinics including endocrine surgeons, oncologists, gynaecologists and paediatricians.
Download or read book Cellular Endocrinology in Health and Disease written by Alfredo Ulloa-Aguirre and published by Academic Press. This book was released on 2021-02-02 with total page 488 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cellular Endocrinology in Health and Disease, Second Edition, describes the underlying basis of endocrine function, providing an important tool to understand the fundamentals of endocrine diseases. Delivering a comprehensive review of the basic science of endocrinology, from cell biology to human disease, this work explores and dissects the function of a number of cellular systems. The new edition provides an understanding of how endocrine glands function by integrating information resulting in biological effects on both local and systemic levels, also providing new information on the molecular physiopathogenesis of endocrine neoplasic cells. The new edition expands the most used chapters from the first edition and proposes a series of substitutions and additions to the table of contents. New chapters cover signaling, brown adipose tissue, hypothalamic cell models, cellular basis of insulin resistance, genetics and epigenetics of neuroendocrine tumors, and a series of chapters on endocrine-related cancer. Providing content that crosses disciplines, Cellular Endocrinology in Health and Disease, Second Edition, details how cellular endocrine function contributes to system physiology and mediates endocrine disorders. A methods section proves novel and useful approaches across research focus that will be attractive to medical students, residents, and specialists in the field of endocrinology, as well as to those interested in cellular regulation. Editors Alfredo Ulloa-Aguirre and Ya-Xiong Tao, experts in molecular and cellular aspects of endocrinology, deliver contributions carefully selected for relevance, impact, and clarity of expression from leading field experts Explores endocrine cells biology in normal and pathologic conditions Covers new aspects of endocrine cell function in distinct tissues Provides a view into the biological effect in local and systemic levels 15 new chapters covering the recent developments in the field
Download or read book Handbook of Clinical Adult Genetics and Genomics written by Shweta Dhar and published by Academic Press. This book was released on 2020-04-10 with total page 530 pages. Available in PDF, EPUB and Kindle. Book excerpt: Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad
Download or read book Hormones and the Endocrine System written by Bernhard Kleine and published by Springer. This book was released on 2016-02-11 with total page 437 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book focuses on hormones, and on how they are produced in very diverse regions of the body in humans and animals. But hormones can be found not only in vertebrates, but also in insects, shellfish, spiders, mollusks, even at the origin of metazoan diversification and exhibit the same pathways of synthesis. The book addresses the different classes of hormones: protein/peptides hormones, steroids and juvenile hormones and hormones like catecholamines, thyroid hormones and melatonin. It also discusses the types of hormone receptors, the majority of which are heptahelical G-protein coupled receptors or nuclear receptors. Particular attention is paid to the organs where hormones are created, with specifics on hormonal production and release, while a dedicated chapter details hormonal regulation from very simple to highly complex schemes. The remarkable kinetics of hormones production are also shown, before the book is rounded out by chapters on evolution in the endocrine system, the genetics of endocrine diseases and doping.
Download or read book Oxford Textbook of Neuromuscular Disorders written by David Hilton-Jones and published by Oxford Textbooks in Clinical N. This book was released on 2014 with total page 399 pages. Available in PDF, EPUB and Kindle. Book excerpt: 'The Oxford Textbook of Neuromuscular Disorders' covers the scientific basis, clinical diagnosis, and treatment of neuromuscular disorders, with a particular focus on the most clinically relevant disorders
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 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 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 Diagnostics of Endocrine Function in Children and Adolescents written by Michael B. Ranke and published by Karger Medical and Scientific Publishers. This book was released on 2011 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: A multitude of new developments, not only in the rapidly advancing field of molecular genetics and steroid metabolism but in all traditional areas of pediatric endocrinology, have influenced the diagnostic approach in children and adolescents with endocrine disorders, thus warranting this 4th, revised and extended edition of 'Diagnostics of Endocrine Function in Children and Adolescents'. Several chapters have been revised completely and all have been thoroughly updated. In addition, new chapters dealing with the muscle-bone unit and bone metabolism have also been incorporated. The original format of the chapters, which are a combination of in-depth discussion of the diagnostic process, practical conclusions and expert advice based on extensive experience, was maintained. Easy-to-use tables and figures allow for quick reference. Flowcharts of possible diagnostic pathways lead to the most frequent diagnoses. Presenting a broad range of diagnostic approaches, test procedures, and normative data required for establishing diagnoses for a broad spectrum of endocrine disorders, this book is an indispensable reference tool not only for endocrinologists and pediatricians but also for professionals in other specialties seeking evidence-based, rapid diagnostic solutions as the basis of advice and therapy for their patients.
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 164 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.
