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Author : David L. Rimoin,R. Neil Schimke
Publisher : Unknown
Page : 452 pages
File Size : 48,7 Mb
Release : 1971
Category : Medical
ISBN : UOM:39015000868631
Author : Roy E. Weiss,Samuel Refetoff
Publisher : Academic Press
Page : 472 pages
File Size : 51,5 Mb
Release : 2015-10-09
Category : Medical
ISBN : 9780128011348
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
Author : Peter Igaz,Attila Patócs
Publisher : Springer Nature
Page : 476 pages
File Size : 41,6 Mb
Release : 2019-10-06
Category : Science
ISBN : 9783030259051
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.
Author : Benjamin Glaser,Harry J. Hirsch
Publisher : Remedica Books
Page : 436 pages
File Size : 46,9 Mb
Release : 2003
Category : Endocrine genetics
ISBN : UCLA:L0091077206
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.
Author : Lytt I. Gardner
Publisher : Unknown
Page : 1404 pages
File Size : 47,9 Mb
Release : 1975
Category : Electronic
ISBN : OCLC:928858405
Author : Patricia L. M. Dahia,Charis Eng
Publisher : Karger Medical and Scientific Publishers
Page : 226 pages
File Size : 46,9 Mb
Release : 2001-01-01
Category : Medical
ISBN : 9783805572033
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.
Author : Lytt I. Gardner
Publisher : Unknown
Page : 1140 pages
File Size : 52,9 Mb
Release : 1969
Category : Children
ISBN : UOM:39015057703897
Author : John D. Baxter,Shlomo Melmed,Maria I. New
Publisher : Lippincott Raven
Page : 792 pages
File Size : 43,5 Mb
Release : 2002
Category : Medical
ISBN : UOM:39015054255024
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.
Author : Constantine A. Stratakis
Publisher : Elsevier Health Sciences
Page : 128 pages
File Size : 52,5 Mb
Release : 2017-05-11
Category : Medical
ISBN : 9780323530064
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.
Author : C.A. Stratakis
Publisher : Karger Medical and Scientific Publishers
Page : 202 pages
File Size : 54,7 Mb
Release : 2013-03-20
Category : Medical
ISBN : 9783318023312
In these times, a book should aspire to present the most significant advances in the field, reflect the themes of the moment, and provide a useful compendium for future reference. This book accomplishes all three objectives by discussing the changing world of modern genetics in endocrine tumors and its impact on clinical practice. Clinicians have to incorporate modern genetics and systems biology in their daily practice. Educators and researchers have to introduce molecular pathways and their genetic variability in their teaching, as well as understanding of classic physiology and pathophysiology.Taking these aspects into account, the chapters in this book cover both the classic multiple endocrine neoplasia (MEN) syndromes, as well as newly described ones, such as Carney triad and Carney-Stratakis syndrome. Furthermore, the genetics of paragangliomas as well as thyroid, parathyroid, and pituitary tumors are examined. Outlining the latest research and its obvious implications for our understanding the genetics of endocrine tumor formation and molecular biology of cancer and their potential therapeutic implications, this book is not only useful for researchers but even more so for practicing clinicians, in particular internists, endocrinologists, oncologists, pediatricians, surgeons, pathologists, geneticists, and genetic counselors.
Author : Ronald A. DeLellis
Publisher : IARC
Page : 324 pages
File Size : 41,6 Mb
Release : 2004
Category : Medical
ISBN : 9283224167
This vol. was produced in collaboration with the International Academy of Pathology (IAP). - This publication reflects the views of a working group that convened for an editorial and consensus conference in Lyon, France, April 23-26, 2003
Author : Dante Banks
Publisher : Hayle Medical
Page : 277 pages
File Size : 46,7 Mb
Release : 2019-06-18
Category : Medical
ISBN : 1632415968
The disorders of the endocrine system are known as endocrine disorders. Major endocrine glands are the pineal and the pituitary glands, the thymus, thyroid gland, adrenal gland, the pancreas and the ovary and the testes. Endocrine disorders include endocrine gland hypersecretion that leads to excessive hormone production, endocrine gland hyposecretion which leads to hormone deficit, and benign or malignant tumors of the endocrine glands. When abnormal chemical reactions occur in the body and alters the normal metabolic process of the body, it results in a metabolic disorder. It is an inherited genetic condition that creates an enzyme deficiency. The symptoms of metabolic disorders can be categorized as acute, progressive general, late-onset acute and permanent. Some common symptoms are weight loss, lethargy, seizures and jaundice. This book contains some path-breaking studies related to endocrine and metabolic disorders. It unravels the recent studies in the diagnosis, prevention and management of these disorders. For all readers who are interested in these domains, the case studies included in this book will serve as an excellent guide to develop a comprehensive understanding.
Author : Gianluca Tamagno,Jacques Epelbaum
Publisher : Frontiers Media SA
Page : 99 pages
File Size : 48,9 Mb
Release : 2015-07-16
Category : Diseases of the endocrine glands. Clinical endocrinology
ISBN : 9782889195893
Neurological and psychiatric disorders can occur in endocrine diseases either in the setting of the clinical manifestations of the same (i.e., hyper- or hyposecretion of hormones or peptides from the endocrine glands) or as events secondary to the pathogenetic mechanisms of the endocrinopathy (i.e., autommunity affecting endocrine glands and the brain). Also the medical or surgical treatment of the endocrine disease can sometimes determine the occurrence of neurological or psychiatric abnormalities. Moreover some genetic alterations can lead to syndromes affecting both the endocrine and the nervous system with a variety of possible manifestations. In the last couple of decades a number of associations between dysfunctions of the endocrine system and neurological or psychiatric manifestations have appeared and only in the minority of the cases this link has been fully elucidated. Often the neurological or psychiatric alterations still represent a relevant challenge for clinicians with regard to the management of the patients. The complexity of the topic and the limited availability of laboratory research models for the study of the endocrine system-nervous system cross-interaction are making the scientific progresses intricate and, sometimes, slow. A dedicated focus to such broad and often still obscure topic might help and clarify the current state-of-the-art in the field and direct the goals of future research.
Author : R. V. Thakker
Publisher : Unknown
Page : 260 pages
File Size : 44,9 Mb
Release : 1995
Category : Endocrine genetics
ISBN : 0702019453
This volume looks at the genetic and molecular biological aspects of endocrine disease. Topics covered include: G-protein coupled receptor structure and function; diabetes insipidus; molecular genetics of disorders of calcium homeostasis; and the molecular basis of human hypertension.
Author : Margaret A. Shupnik
Publisher : Humana Press
Page : 0 pages
File Size : 50,7 Mb
Release : 2010-11-09
Category : Medical
ISBN : 1617371475
During the past five to ten years, a variety of tools has been developed in the disciplines of both gene engineering, and molecular and structural biology. Some of these advances have permitted scientists not only to identify and characterize genes, but also to target these genes by disruption, thus eliminating their function in living animals, and to det- mine the biological responses to altered gene products. This has particular significance in endocrine systems, in which feedback mechanisms between the hypothalamus, pi- itary, and end organs are critical in normal physiology. Interpretation of the physiological significance, or the site of action of specific molecules in this context, has been difficult prior to transgenic technology. Major advances have occurred specifically in the areas of growth and development, and of reproduction. Coupled with analysis of naturally occurring mutations in humans, the use of transgenic animals and in vitro systems has recently allowed endocrinologists to understand the importance of specific thyroid hormone receptor isoforms in vivo, the molecular basis for generalized resistance to thyroid hormones via mutations in the nuclear receptor, and mechanisms for suppressing gene transcription. Previously designated “orphan rec- tors,” such as steroidogenic factor-1, were demonstrated to have critical roles in dev- opment and reproduction. Other nuclear receptors—including those for thyroid hormone, estrogens, androgens, and progesterone—were shown to bind to coactivator and co- pressor proteins that modified their transcriptional activity, and contributed to the ce- specific effects of the hormones.
