genetic diagnosis of endocrine disorders

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Genetic Diagnosis Of Endocrine Disorders

Author : Roy E. Weiss
ISBN : 9780128011348
Genre : Medical
File Size : 27. 82 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

Author :
ISBN : OCLC:972008296
Genre :
File Size : 31. 36 MB
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Genetic Steroid Disorders

Author : Maria I. New
ISBN : 9780123914675
Genre : Science
File Size : 66. 60 MB
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This is a comprehensive book addressing steroid disorders from hormonal, genetic, psychological, and surgical perspectives. It is meant to educate adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It will assist these specialists in the diagnosis and treatment of steroid disorders. The book is written for postgraduate and faculty-level physicians. The content consists of steroid disorders, genetic bases for the disorder and case presentations of each disorder. Provides a common language for professionals to discuss and diagnose genetic steroid disorders Includes the very latest details on genetic tests and diagnoses Offers a strong understanding of the molecular basis for the diseases and therefore correct diagnosis and treatment of steroid disorders Presents insight into which medications to use based on the genetic makeup of a patient Teaches the best strategies and most effective use of genetic information in the patient counseling setting

Diagnostics Of Endocrine Function In Children And Adolescents

Author : Michael B. Ranke
ISBN : 9783805594141
Genre : Medical
File Size : 70. 20 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.

Hormone Resistance And Hypersensitivity

Author : M. Maghnie
ISBN : 9783318022681
Genre : Medical
File Size : 71. 88 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.

Next Generation Sequencing Based Clinical Molecular Diagnosis Of Human Genetic Disorders

Author : Lee-Jun C. Wong
ISBN : 9783319564180
Genre : Science
File Size : 27. 97 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.

Endocrinology And Diabetes

Author : Francisco Bandeira
ISBN : 9781461486848
Genre : Medical
File Size : 52. 10 MB
Format : PDF
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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 Of Bone Biology And Skeletal Disease

Author : Rajesh V. Thakker
ISBN : 9780128041987
Genre : Medical
File Size : 62. 31 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

Genetics For Endocrinologists

Author : Benjamin Glaser
ISBN : UCLA:L0091077206
Genre : Medical
File Size : 48. 90 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.

Encyclopedia Of Endocrine Diseases

Author : Ilpo Huhtaniemi
ISBN : 0128121998
Genre :
File Size : 35. 5 MB
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Encyclopedia of Endocrine Diseases, Second Edition, comprehensively reviews the extensive spectrum of diseases and disorders that can occur within the endocrine system. It serves as a useful and comprehensive source of information spanning the many and varied aspects of the endocrine end metabolic system. Students will find a concise description of the physiology and pathophysiology of endocrine and metabolic functions, as well as their diseases. Each article provides a comprehensive overview of the selected topic to inform a broad spectrum of readers, from advanced undergraduate students, to research professionals. Chapters explore the latest advances and hot topics that have emerged in recent years, such as the molecular basis of endocrine and metabolic diseases (mutations, epigenetics, signaling), the pathogenesis and therapy of common endocrine diseases (e.g. diabetes and endocrine malignancies), new technologies in endocrine research, new methods of treatment, and endocrine toxicology/disruptors. Covers all aspects of endocrinology and metabolism Incorporates perspectives from experts working within the domains of biomedicine (e.g. physiology, pharmacology and toxicology, immunology, genetics) and clinical sciences to provide readers with reputable, multi-disciplinary content from domain experts Provides a 'one-stop' resource for access to information as written by world-leading scholars in the field, with easy cross-referencing of related articles to promote understanding and further research

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