Download or read book Endocrine Tumor Syndromes and Their Genetics written by C.A. Stratakis and published by Karger Medical and Scientific Publishers. This book was released on 2013-03-20 with total page 202 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 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 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 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 Hot Topics in Endocrine and Endocrine Related Diseases written by Monica Fedele and published by BoD – Books on Demand. This book was released on 2013-05-08 with total page 278 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book covers a selected number of hot topics in endocrine and hormone-related pathologies, discussed by eminent scientists and clinicians coming from different countries of the world. It deals with advanced recent trends in the field, including neuroendocrine and pituitary tumors, thyroid dysfunctions, diabetes and a series of endocrine-related diseases, such as those related to the anabolic effects of testosterone, obesity, cancer, the liver complications of diabetes and the pediatric nonalcoholic fatty liver disease. The readers should be able to have a basic, as well as critic and advanced, overview of these selected hot pathologies of the endocrine system.
Download or read book Pathology and Genetics of Tumours of Endocrine Organs written by Ronald A. DeLellis and published by IARC. This book was released on 2004 with total page 324 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Genetic Evaluation of Patients and Families with Concern for Hereditary Tumor Syndromes Within the OSU James Multidisciplinary Neuroendocrine thyroid Cancer Clinic written by Jennifer Leigh Gauerke and published by . This book was released on 2019 with total page 80 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hereditary endocrine tumor syndromes are rare genetic conditions with many overlapping features. It is imperative that healthcare providers recognize and differentiate between these syndromes to ensure proper care of patients. Recent advances in genetic testing technologies has increased utilization of genetic counseling and testing in this field, however few guidelines on referral and testing criteria exist. Two years ago, a genetic counselor specializing in endocrine genetics was added to the multidisciplinary team of the James Neuroendocrine/Thyroid Clinic at OSU. In this study, we report on this unique experience of embedded genetic counseling and evaluation services. Additionally, we provide an overview of current practice patterns in endocrine genetics. In total, 358 patients were referred and seen by the genetic counselor over a two-year time period. The majority of patients were referred by medical oncology (n=204; 57%) for a personal history of disease (n=249; 81%). The most common referral indications were pancreatic neuroendocrine tumors (n=44; 17%), multiple primary tumors in the same individual (n=37; 14%), and pheochromocytoma/paraganglioma (n=35; 14%). The majority of patients pursued and completed genetic testing after genetic counseling (n=200; 65%). The most common type of genetic testing ordered was targeted panel testing based on the patients’ individual tumor type/symptoms (n=98; 32%). Thirty patients (15%) had at least one likely pathogenic variant (LPV) or pathogenic variant (PV) identified. Of the patients that had a LPV/PV identified, approximately 37% (n=11) did not meet current genetic evaluation and/or testing guidelines. The most common genes with LPV/PV results were the SDH genes (n=8) and MEN1 (n=6). Referral indications that yielded the highest rate of positive results were paraganglioma, medullary thyroid carcinoma (MTC), and multiple primary tumors. Based on our review and clinical experience, we believe there is a lack of clear guidelines for genetic evaluation, testing, and management in the endocrine genetics field that needs to be addressed. Given this lack of guidelines, the data from our clinic can provide valuable guidance to other healthcare professionals who see endocrine patients or are seeking to establish hereditary endocrine cancer clinics.
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 Familial Endocrine Cancer Syndromes written by Fady Hannah-Shmouni and published by Springer. This book was released on 2023-11-10 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is composed of 13 informative chapters written by world-renowned healthcare providers and researchers in the fields of endocrinology, pharmacy, radiology, infertility, pediatrics, internal medicine, psychology and genetics. From topics covering psychosocial impacts to pharmacokinetic and homecare resources, the intent of this book is to provide guiding principles for a safe and informative transition of care for pediatric and adolescent patients with various familial endocrine cancer syndromes that are transitioning from pediatric to adult health care. It provides an in-depth exploration of the diagnostic and therapeutic strategies, survivorship navigation intervention, patient, caregiver and primary care provider challenges, and multidisciplinary care plans for conditions such as MEN1, MEN2 and other familial and genetic endocrine neoplasias. Familial Endocrine Cancer Syndromes: Navigating the Transition of Care for Pediatric and Adolescent Patients is a much-needed resource, as the literature currently lacks a comprehensive publication to facilitate pediatric patients’ transition to adult clinics and resources following endocrine cancer diagnosis and treatment.
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 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 Evidence based practice in Neuro oncology written by Supriya Mallick and published by Springer Nature. This book was released on 2021-07-24 with total page 423 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides evidence-based management in neuro-oncology covering all aspects such as pathology, radiology, surgery, radiation, and chemotherapy.The field of neuro-oncology is rapidly evolving and new evidence is coming out every day towards the optimal management of brain tumors. This necessitates a requirement of a complete guide that shall provide an evidence-based and personalized approach towards dealing with patients. This book also covers recent advances in personalized treatment formed through the relevant basis of anatomy, imaging, radiology, surgical, radiation and systemic treatment of brain and spinal tumors. In addition it also covers the , practical aspects of the planning of the Gamma knife and other radio surgical aspects. The book shall provide valuable assistance to practicing neuro-oncologists to practice better evidence-based personalized medicine.
Download or read book Cancer Cytogenetics written by Sverre Heim and published by John Wiley & Sons. This book was released on 2015-06-29 with total page 645 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first three editions of this acclaimed book presented a much-needed conceptual synthesis of this rapidly moving field. Now, Cancer Cytogenetics, Fourth Edition, offers a comprehensive, expanded, and up-to-date review of recent dramatic advances in this area, incorporating a vast amount of new data from the latest basic and clinical investigations. New contributors reflecting broader international authorship and even greater expertise Greater emphasis throughout on the clinical importance and application of information about cytogenetic and molecular aberrations Includes a complete coverage of chromosome aberrations in cancer based on an assessment of the 60,000 neoplasms cytogenetically investigated to date Now produced in full color for enhanced clarity Covers how molecular genetic data (PCR-based and sequencing information) are collated with the cytogenetic data where pertinent Discusses how molecular cytogenetic data (based on studies using FISH, CGH, SNP, etc) are fused with karyotyping data to enable an as comprehensive understanding of cancer cytogenetics as is currently possible
Download or read book Diagnostic Pathology Familial Cancer Syndromes written by Vania Nosé and published by Elsevier Health Sciences. This book was released on 2020-02-14 with total page 897 pages. Available in PDF, EPUB and Kindle. Book excerpt: This expert volume in the Diagnostic Pathology series is an excellent point-of-care resource for practitioners at all levels of experience and training. Physicians should have the knowledge derived from morphological findings to identify the likelihood of a cancer patient having an additional underlying familial syndrome— and to decide if that patient should undergo molecular genetic evaluation. This volume is specifically designed to help pathologists, oncologists, and other physicians who diagnose and treat cancer to recognize syndromes and syndrome- associated neoplasms and advise patients and their families on the possibility of a familial syndrome and their risk of developing other tumors. Diagnostic Pathology: Familial Cancer Syndromes, second edition, is an easy-to-use, one-stop reference for information on hereditary cancer syndromes, including differential diagnosis and management, that offers a templated, highly formatted design; concise, bulleted text; and superior color images throughout. Contains all the information necessary to determine whether a neoplasm typically encountered in daily practice is sporadic or related to a familial cancer syndrome Features a revised structure to keep you up to date: Part I includes more than 80 detailed chapters describing diagnoses associated with familial cancer syndromes; Part II contains more than 70 chapters with detailed descriptions of major syndromes (cross-referenced with diagnoses); and Part III features a molecular factors index that includes a complete description of each known gene associated with a familial cancer syndrome Contains updated chapters with newly classified GI, neurology, multiple organ, eye, endocrine, GYN, and kidney tumors, as well as more than 20 entirely new chapters covering recently recognized syndromes Incorporates up-to-date molecular findings and their significance for familial cancer syndromes; new techniques and technologies being used to discover gene mutations and other alterations; and details on personalized medicine targeted to specific genes Features more than 2,200 images throughout, including clinical and radiological images, algorithms, graphics, gross pathology, histology, and a wide range of special and immunohistochemical stains—all carefully annotated to highlight the most diagnostically significant factors Features time-saving bulleted text, key facts in each chapter, an extensive index, and numerous tables for quick reference and thorough understanding
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 Clinical Gynecology written by Eric J. Bieber and published by Cambridge University Press. This book was released on 2015-04-23 with total page 1127 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written with the busy practice in mind, this book delivers clinically focused, evidence-based gynecology guidance in a quick-reference format. It explores etiology, screening, tests, diagnosis, and treatment for a full range of gynecologic health issues. The coverage includes the full range of gynecologic malignancies, reproductive endocrinology and infertility, infectious diseases, urogynecologic problems, gynecologic concerns in children and adolescents, and surgical interventions including minimally invasive surgical procedures. Information is easy to find and absorb owing to the extensive use of full-color diagrams, algorithms, and illustrations. The new edition has been expanded to include aspects of gynecology important in international and resource-poor settings.
Download or read book Principles of Clinical Cancer Genetics written by Daniel C. Chung and published by Springer Science & Business Media. This book was released on 2010-07-20 with total page 234 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in genetics are transforming estimates of an individual’s risk of developing cancer and approaches to prevention and management of cancer in those who may have increased susceptibility. Identifying and caring for patients with hereditary cancer syndromes and their family members present a complex clinical, scientific and social challenge. This textbook, by leading experts at Massachusetts General Hospital Cancer Center, highlights the current understanding of the genetics of hereditary cancers of the breast, ovary, colorectum, stomach, pancreas, kidney, skin, and endocrine organs. Practical guidelines for the use of genetic testing, cancer screening and surveillance, prophylactic surgery, and promising targeted therapeutic agents are discussed. In addition, ongoing research involving genome-wide screens to identify novel modest risk-associated genetic loci are explored, along with new approaches to the application of genetic markers in guiding therapeutic options.
