genetic diagnosis of endocrine disorders

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Genetic Diagnosis Of Endocrine Disorders

Author : Roy E. Weiss
ISBN : 9780128011348
Genre : Medical
File Size : 52. 99 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

Author : Roy E. Weiss
ISBN : 0080922287
Genre : Medical
File Size : 88. 88 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 : 012800892X
Genre :
File Size : 87. 9 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 clear presentations by geneticists 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 systemOffers 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 : 37. 98 MB
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Hormone Resistance And Hypersensitivity

Author : M. Maghnie
ISBN : 9783318022681
Genre : Medical
File Size : 30. 69 MB
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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.

Endocrinology And Diabetes

Author : Francisco Bandeira
ISBN : 9781461486848
Genre : Medical
File Size : 64. 92 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.​

Genetics In Endocrinology

Author : John D. Baxter
ISBN : 0781714966
Genre : Science
File Size : 56. 42 MB
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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.

Genetics Of Bone Biology And Skeletal Disease

Author : Rajesh V. Thakker
ISBN : 9780128041987
Genre : Medical
File Size : 40. 61 MB
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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

Diagnostics Of Endocrine Function In Children And Adolescents

Author : Michael B. Ranke
ISBN : 9783805594141
Genre : Medical
File Size : 59. 33 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.

Genetics For Endocrinologists

Author : Benjamin Glaser
ISBN : UCLA:L0091077206
Genre : Medical
File Size : 68. 94 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.

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