genetic diagnosis of endocrine disorders

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Genetic Diagnosis Of Endocrine Disorders

Author : Roy E. Weiss
ISBN : 0080922287
Genre : Medical
File Size : 25. 47 MB
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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

Genetic Diagnosis Of Endocrine Disorders

Author : Roy E. Weiss
ISBN : 9780128011348
Genre : Medical
File Size : 26. 76 MB
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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

Genetic Diagnosis Of Endocrine Disorders Ed 2

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ISBN : OCLC:972008296
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File Size : 44. 44 MB
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Genetics For Endocrinologists

Author : Benjamin Glaser
ISBN : UCLA:L0091077206
Genre : Medical
File Size : 42. 43 MB
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Practicing adult and pediatric endocrinologists, physicians, trainees in endocrinology, paraprofessionals interested in genetic diagnosis and counseling Genetics for Endocrinologists is a convenient reference guide to help clinicians apply the wealth of new genetic information to practical aspects of diagnosis and genetic counseling for endocrine patients and their families. Concise summaries of more than 100 endocrine disorders and syndromes emphasize new developments in understanding the genetic basis and mechanism of those conditions. Each entry includes references to review articles and other recent citations from the medical literature Diagrams of metabolic pathways and disease mechanisms provide helpful summaries, while the glossary is a "user-friendly" introduction to the language of modern genetics. Genetics for Endocrinologists will be a welcome companion in medical offices and clinics, and on teaching rounds.

Next Generation Sequencing Based Clinical Molecular Diagnosis Of Human Genetic Disorders

Author : Lee-Jun C. Wong
ISBN : 9783319564180
Genre : Science
File Size : 64. 39 MB
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Next Generation Sequencing technology has been applied to clinical diagnoses in the past three to five years using various approaches, including target gene panels and whole exomes. The purpose of this book is to summarize the experiences, the results, advantages and disadvantages, along with future development in the area of NGS-based molecular diagnosis. This up-to-date volume will not only provide the readers working with Next Generation Sequencing the basics on how to apply the technology to molecular diagnosis, but will present the results and experience of practical application.

Genetics Of Endocrine Disorders An Issue Of Endocrinology And Metabolism Clinics Of North America E Book

Author : Constantine A. Stratakis
ISBN : 9780323530064
Genre : Medical
File Size : 87. 67 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.

Netter Collection Of Medical Illustrations Endocrine System E Book

Author : William F. Young
ISBN : 9781437736472
Genre : Medical
File Size : 62. 57 MB
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Endocrine System, 2nd Edition provides a concise and highly visual guide to the anatomy, physiology, and pathophysiology of the endocrine glands. This volume in The Netter Collection of Medical Illustrations (the CIBA "Green Books") has been expanded and revised by Dr. William F. Young, Jr. to reflect the many exciting advances that have been made in the field. Classic Netter art, updated illustrations, and modern imaging make this timeless work essential to your library. Access rare illustrations in one convenient source from the only Netter work devoted specifically to the endocrine system. Get a complete overview of the endocrine system through multidisciplinary coverage of endocrinology as a whole. Gain a quick understanding of complex topics from a concise text-atlas format that provides a context bridge between primary and specialized medicine. Apply a visual approach—with the classic Netter art, updated illustrations, new artwork and modern imaging—to normal and abnormal endocrine gland function and the clinical presentation patients with endocrine disorders. Clearly see the connection between basic and clinical sciences with an integrated overview of normal structure and function as it relates to pathologic conditions. Delve into updated text of new author and editor, William F. Young, Jr., MD., that illuminates and expands on the illustrated concepts. Benefit from the perspectives of an international advisory board for content that reflects the current global consensus.

Early Diagnosis And Treatment Of Endocrine Disorders

Author : Robert S. Bar
ISBN : 9781592593781
Genre : Medical
File Size : 74. 42 MB
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Most endocrine diseases can be treated successfully, and the patient's state of well-being can usually be improved. Not surprisingly, the earlier the diagnosis is made the more positive the clinical response. Early Diagnosis and Treatment (~f Endocrine Disorders focuses on early signs and symptoms of endocrine disorders and surveys the appropriate tests to document the diseases as well as current recommendations for therapy. Each chapterreviews the pathophysiology of the endocrine disease-important for understanding each disorder as well as the rationale for early therapy-and the basis for the early recognition and treatment of each condition. Although the practicing endocrinologist is likely to be quite knowledgeable regarding many of these diseases, Early Diagnosis and Treatment of Endocrine Disorders includes treatment of those conditions only recently classified as endocrine disorders, such as polycystic ovarian syndrome, obesity, and hypogonadism. The book also provides new approaches that are urgently needed to slow the epidemic of type 2 diabetes, which should be an overriding concern for all clinicians. Until now, no other endocrinology text has focused primarily on the details of early recognition and therapy of endocrine disorders. The information in Early Diagnosis and Treatment of Endocrine Disorders is presented in an orderly and easy-to-follow manner, which should greatly facilitate the early recognition of endocrine diseases by medical students, house staff, primary care physicians, and endocrinologists, the four groups of clinical personnel to which this book is specificall y directed.

Diagnostics Of Endocrine Function In Children And Adolescents

Author : Michael B. Ranke
ISBN : 9783805594141
Genre : Medical
File Size : 67. 2 MB
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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.

Endocrinology And Diabetes

Author : Francisco Bandeira
ISBN : 9781461486848
Genre : Medical
File Size : 87. 99 MB
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Endocrinology, and diabetes care in particular, is a dynamic field where clinicians must translate new evidence into clinical practice at a rapid pace. Designed in an engaging, case-based format, Endocrinology and Diabetes: A Problem Oriented Approach offers a wide range of thought-provoking case studies that reflect contemporary, challenging, hands-on clinical care. Further, by providing a list of specific clinical problems, this format offers the reader a more convenient and pointed way to solve precise clinical problems in a timely manner. Developed by a renowned, international group of experts, this comprehensive title covers the most common clinical problems in endocrinology and diabetes and should be of great interest to endocrinologists, diabetologists, internal medicine physicians, family physicians, fellows, and residents.​

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