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 462 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 Pheochromocytoma written by Karel Pacak and published by John Wiley & Sons. This book was released on 2008-04-15 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pheochromocytomas are rare but treacherous catecholamine-producing tumors, which if missed or not properly treated, will almost invariably prove fatal. Prompt diagnosis is, therefore, essential for effective treatment, usually by surgical resection. The manifestations are diverse and the tumor can mimic a variety of conditions, often resulting in either erroneous diagnoses or a delayed diagnosis. Reflecting the recent leaps in understanding this condition, Pheochromocytoma: Diagnosis, Localization, and Treatment provides a comprehensive update on the improvements in the diagnosis, localization, management and treatment of pheochromocytomas – providing you with the latest cutting edge science alongside best clinical practice. Written by the leading names in the field, the text details the significant developments in understanding the genetics and biology of the tumors, coupled with technological advances in the fields of analytical chemistry, genomics, molecular biology and nuclear medicine. The most comprehensive book on pheochromocytoma Provides cutting edge science and clinical guidance Written by the leading names in the field Authors present their recently developed novel biochemical test for the diagnosis of Pheochromocytoma

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 Endocrine Genes written by Yun-Fai Lau and published by Oxford University Press, USA. This book was released on 1988 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt: The application of recombinant DNA techniques to endocrinology is an exciting area of biomedical research. These and other new methods have made it possible to clone many endocrine genes--such as those for insulin and growth hormone--to determine their nucleatide sequences, and to study their expression both in vitro and in vivo. Derived from a series of molecular endocrinology research seminars, this book covers the basics of gene cloning, structural analysis and the regulation of gene expression in selected endocrine systems. The first part focuses on analytical methods and experimental approaches, including DNA-mediated gene transfer, identification of tissue-specific transcription factors and regulatory sequences, in situ hybridization of mRNA, and gene mapping on human chromosomes. The second part presents molecular studies of various endocrine systems, each combining different approaches.

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 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 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 Endocrine Aspects of Successful Aging Genes Hormones and Lifestyles written by P. Chanson and published by Springer Science & Business Media. This book was released on 2013-03-09 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt: At the beginning of the 20th century, life expectancy at birth in North America and Western Europe was around 50 years of age. Nowadays, women have gained more than 30 years of age and men are trailing closer. However, according to several sociologists such as Louis Chauvel, the notion of a "greying society" is not entirely adequate since aging people are physically and socially younger and more active for a longer time. Of course, the other side of the medal is to tackle the challenge of preventing age-associated chronic diseases. In this book the extensive field of research on neuroendocrine aging has been reviewed. Aging is one of the most complex biological processes determined by the interactions between genetic and environmental factors.

Download or read book Endocrinology written by S.S. Nussey and published by CRC Press. This book was released on 2001-06-15 with total page 382 pages. Available in PDF, EPUB and Kindle. Book excerpt: Traditionally, endocrinology textbooks have been either short notes or multi-author, multi-volume monster, all of which present clinical material last and often only briefly. Endocrinology is different and used real cases to lead readers into the text and then describes the biochemistry, physiology, and anatomy they need to understand the case. The

Download or read book Endocrine Tumor Syndromes and Their Genetics written by Constantine A. Stratakis and published by Karger Medical and Scientific Publishers. This book was released on 2013 with total page 202 pages. Available in PDF, EPUB and Kindle. Book excerpt: From classic MEN syndromes to various germline and somatic mutations in sporadic tumors 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.

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 Molecular Endocrinology written by Gill Rumsby and published by Garland Science. This book was released on 2020-07-26 with total page 319 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume in the Human Molecular Genetics series is an invaluable text for endocrinologists wishing to update their knowledge. It also provides an excellent grounding in the basic genetics of molecular endocrinology and relevant analytical techniques.

Download or read book Genetics of Male Infertility written by Mohamed Arafa and published by Springer Nature. This book was released on 2020-03-14 with total page 374 pages. Available in PDF, EPUB and Kindle. Book excerpt: This unique, case-based guide provides a thoughtful and comprehensive overview of the genetic basis of male infertility for the practicing clinician. In addition to discussing the molecular foundations of sperm production and the consequences of genetic abnormalities on various stages of sperm development, it examines the clinical aspects of acknowledged genetic disorders and their implications on male fertility. In so doing, it offers the necessary tools required by the clinician for the diagnosis and treatment of infertile men with genetic abnormalities. Moreover, it provides essential algorithms that may aid in counseling patients in the clinic. The text is arranged in four thematic sections for easy reference. The genetic foundation of male reproduction is presented in part 1, including regulation of sperm production, the structure of sperm chromatin, and spermatogenesis. The impact of genetic abnormalities on male infertility is the subject of part 2, covering sperm defects, mitochondrial function and DNA fragmentation. The clinical case material in part 3 illustrates real-world examples of genetic etiologies and the current diagnostic and therapeutic strategies for conditions such as vas asplasia, cryptorchidism, immotile cilia syndrome, sperm aneuploidy and other challenging scenarios. Casting forward, the fourth and final section presents an overview of future possibilities for management of genetic causes of male infertility, including gene editing. Fully exploring the clinical context of these genetic conditions in a practical manner that appeals to the practicing clinician, Genetics of Male Infertility is an exciting and essential text for reproductive medicine specialists, andrologists, urologists, researchers and all other clinicians treating infertile patients.

Download or read book Endocrine Hypertension written by Karel Pacak and published by . This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Several genetic, biochemical and radiologic discoveries have impacted the management of endocrine hypertension, while surgical procedures have revolutionized treatment of patients with endocrine hypertension. This text contains the proceedings of a 2001 workshop on the topic.

Download or read book Endocrine Pathology written by Ricardo V. Lloyd and published by Springer Science & Business Media. This book was released on 2010-01-24 with total page 602 pages. Available in PDF, EPUB and Kindle. Book excerpt: Endocrine Pathology: Differential Diagnosis and Molecular Advances, Second Edition provides detailed coverage of endocrine pathology with extensive discussion of the differential diagnosis as well as presentation of molecular pathobiology of the major endocrine organs. Revised and expanded from the first edition, each chapter, written by leaders in their respective field, has been updated with the latest advances that are transforming the field of endocrine pathology. Richly illustrated with color photomicrographs, useful diagrams and line drawings, each chapter includes differential diagnosis of common and uncommon lesions as well as material on molecular developments, with emphasis on the molecular findings that are most helpful in the diagnosis of specific disorders. Endocrine Pathology: Differential Diagnosis and Molecular Advances, Second Edition, provides a useful and well-organized resource designed not only for the endocrine pathologist and the general surgical pathologist, but also for the clinical endocrinologist and the endocrine surgeon.

Download or read book Reproductive Endocrinology written by P. Jorge Chedrese and published by Springer Science & Business Media. This book was released on 2009-06-13 with total page 355 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular biology emerged from advances in biochemistry during the 1940s and 1950s, when the structure of the nucleic acids and proteins were elucidated. Beginning in the 1970s, with nucleic acid enzymology and the discovery of the restriction enzymes, the tools of molecular biology became widely available and applied in cell biology to study how genes are regulated. This new knowledge impacted endocrinology and reproductive biology since it was largely known that the secretion of the internal glands affected the phenotypes, and expression of genes. Modern reproductive biology encompasses every level of biological study from genomics to ecology, encompassing cell biology, biochemistry, endocrinology and general physiology. All of these disciplines require a basic knowledge, both as a tool and as an essential aid to a fundamental understanding of the principles of life in health and disease. Overall, molecular biology is central to scientific studies in all living matter, impacting disciplines such as medicine, related health sciences, veterinary, agriculture and environmental sciences. In this book, the basic biochemistry of nucleic acids and proteins are reviewed. Methodologies used to study signaling and gene regulation in the endocrine/reproductive system are also discussed. Topics include mechanisms of hormone action and several endocrine disorders affecting the reproductive system. Professionals in the medical, veterinary and animal sciences fields will find exciting and stimulating material enhancing the breadth and quality of their research.