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Genetics Of Growth Disorders
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Author :Jens O. L. Jørgensen Publisher :Karger Medical and Scientific Publishers ISBN 13 :3805579926 Total Pages :241 pages Book Rating :4.8/5 (55 download)
Book Synopsis Growth Hormone Deficiency in Adults by : Jens O. L. Jørgensen
Download or read book Growth Hormone Deficiency in Adults written by Jens O. L. Jørgensen and published by Karger Medical and Scientific Publishers. This book was released on 2005-01-01 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt: It has been known for over 40 years that GH-deficient-children benefit from replacement with the hormone. But GH, essential for longitudinal growth, also plays a role after completion of final height. With the introduction of biosynthetic human GH 20 years ago, the use of GH was no longer restricted to severe growth retardation in hypopituitary children. This book will take the reader behind the myths of GH and into the real world of clinical endocrinology. The contributions stem from recognized clinicians and scientists who have been working in the field for decades. The contents encompass traditional end points of GH therapy such as body composition, bone biology and physical performance. Attention is also devoted to diagnostic aspects and side effects. Additional features range from clinical epidemiology to quality of life, and novel areas such as the impact of traumatic brain injury on pituitary function are also covered. The present volume of Frontiers of Hormone Research is essential reading for health care professionals interested in clinical endocrinology and GH.
Book Synopsis Gigantism and Acromegaly by : Constantine A. Stratakis
Download or read book Gigantism and Acromegaly written by Constantine A. Stratakis and published by Academic Press. This book was released on 2021-06-01 with total page 312 pages. Available in PDF, EPUB and Kindle. Book excerpt: Gigantism and Acromegaly brings together pituitary experts, taking readers from bench research, to genetic analysis, clinical analysis, and new therapeutic approaches. This book serves as a reference for growth hormone over-secretion and its diagnosis and treatment for endocrinologists, pediatricians, internists, and neurosurgeons, and for geneticists. Pharmaceutical companies may use it as a reference for drug development and research. Students, residents and fellows in medicine and endocrinology and genetics will also find it valuable as it provides a single up-to-date review of the molecular biology of gigantism and acromegaly as well as recommended approaches to evaluation and management. Acromegaly is a rare pituitary disorder that slowly changes its adult victim's appearance over time: larger hands and feet, bigger jaw, forehead, nose, and lips. Generally, a benign pituitary tumor is the cause and symptoms of acromegaly can vary from patient to patient, making a diagnosis difficult and prolonging suffering for years. Early detection is key in the management of acromegaly as the pathologic effects of increased growth hormone (GH) production are progressive and can be life-threatening as the result of associated cardiovascular, cerebrovascular, and respiratory disorders and malignancies. - Accessible, up-to-date overview of the characteristics, state-of-the-art diagnostic procedures, and management of acromegaly and gigantism - Provides a unique compendium of endocrinology, genetics, clinical diagnosis and therapeutics - Contains contributions from internationally known experts who have treated patients with acromegaly and gigantism
Author :Michael B. Ranke Publisher :Karger Medical and Scientific Publishers ISBN 13 :3805582560 Total Pages :534 pages Book Rating :4.8/5 (55 download)
Book Synopsis Growth Hormone Therapy in Pediatrics by : Michael B. Ranke
Download or read book Growth Hormone Therapy in Pediatrics written by Michael B. Ranke and published by Karger Medical and Scientific Publishers. This book was released on 2007-01-01 with total page 534 pages. Available in PDF, EPUB and Kindle. Book excerpt: For 20 years, KIGS (Pfizer International Growth Database) has provided an outstanding tool for monitoring the use, efficacy and safety of growth hormone (GH) treatment in children with short stature of varying origin. This volume offers a comprehensive update of the continuing experiences in KIGS and is based on data from more than 50 countries and more than 60,000 patients. International experts analyse in detail the basic auxological characteristics of patients and their response to GH treatment for a broad spectrum of growth disorders. These include idiopathic GH deficiency, organic GH deficiency due to a variety of causes such as congenital malformations and syndromes, genetic disorders or treatment for leukaemia or central nervous system tumours and short stature in children born small for gestational age, specific syndromes and systemic disorders. Each growth disorder is also covered by a review of relevant published data by international experts. KIGS has also established itself as a primary source of information about adverse events during long-term GH treatment in children. The recent analysis of KIGS data has revealed no new adverse drug reactions since the 10-year follow-up. Therefore, treatment with GH seems a low-risk intervention in children and adolescents with various growth disorders. The process of developing disease-specific growth response prediction models has been ongoing in KIGS for many years. The available models are accurate, precise and have a relatively high degree of predictive power, although further predictors of the growth response remain to be identified. The KIGS prediction models can be applied prospectively to new patients, enabling their GH therapy to be better tailored and monitored to achieve optimal growth, safety and cost outcomes. The future of KIGS within the era of evidence-based medicine will continue to depend upon the quality of the data reported. Therefore, the commitment of participating physicians will continue to be a decisive element. The ongoing recognition of the importance of valid safety and efficacy information in the practice of paediatric endocrinology is exemplified by this valuable international collaboration of clinicians and the pharmaceutical community.
Book Synopsis Management of Genetic Syndromes by : Suzanne B. Cassidy
Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
Book Synopsis Linear Growth Retardation in Less Developed Countries by : John Conrad Waterlow
Download or read book Linear Growth Retardation in Less Developed Countries written by John Conrad Waterlow and published by Nestle Nutrition Services. This book was released on 1988 with total page 322 pages. Available in PDF, EPUB and Kindle. Book excerpt: Basado en el 14 Nestlé Nutrition Workshop celebrado en Tailandia en 1986.
Book Synopsis Biochemical and Molecular Basis of Pediatric Disease by : Edward C.C. Wong
Download or read book Biochemical and Molecular Basis of Pediatric Disease written by Edward C.C. Wong and published by Academic Press. This book was released on 2021-05-13 with total page 1172 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biochemical and Molecular Basis of Pediatric Disease, Fifth Edition has been a well-respected reference in the field for decades. This revision continues the strong focus on understanding the pathogenesis of pediatric disease, emphasizing not only the important role of the clinical laboratory in defining parameters that change with the disease process, but also the molecular basis of many pediatric diseases. - Provides a fully-updated resource with more color illustrations - Focuses on the biochemical and molecular basis of disease as well as the analytical techniques - Defines important differences in the pathophysiology of diseases, comparing childhood with adult
Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey
Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Book Synopsis Hormone Resistance and Hypersensitivity by : M. Maghnie
Download or read book Hormone Resistance and Hypersensitivity written by M. Maghnie and published by Karger Medical and Scientific Publishers. This book was released on 2013-02-04 with total page 170 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Bone Dysplasias by : Jürgen W. Spranger
Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press, USA. This book was released on 2018 with total page 929 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.
Book Synopsis Growth Hormone Related Diseases and Therapy by : Ken Ho
Download or read book Growth Hormone Related Diseases and Therapy written by Ken Ho and published by Springer Science & Business Media. This book was released on 2011-08-12 with total page 413 pages. Available in PDF, EPUB and Kindle. Book excerpt: The molecular era ushered in the cloning of the growth hormone (GH) gene and the production of unlimited amounts of GH through recombinant technology. The continuing momentum of research from basic science to clinical evaluation has brought unprecedented advances to the understanding of GH biology for the clinical endocrinologist. Growth Hormone Related Diseases and Therapy: A Molecular and Physiological Perspective for the Clinician distills all the new information of relevance to the endocrinologist over the last 20 years by offering five sections: physiology, molecular genetics, GH deficiency, acromegaly and pharmacotherapy. The first section on physiology focuses on GH action. A review on the structure and function of the GH receptor is followed by a perspective on the regulatory role of ghrelin on GH secretion. The second section on genetics covers pituitary function and adenomas, including new and fascinating information on familial pituitary adenomas, their genotype and phenotype. The adult GH deficiency section spans the epidemiology and diagnosis of GH deficiency with a strong reminder for the clinician that the transition period represents a critical time of somatic maturation, which continues for years after cessation of liner growth. The section on acromegaly focuses on management, giving practical guides to the value of GH and IGF-1 measurements, the place of somatostatin analogues and of radiotherapy while reminding the reader as to why evaluating quality of life is an important part of management. Finally, the section on GH pharmacology takes the reader through innovative developments of long-acting GH formulations with some products on the threshold of clinical use. This section provides a balanced evidence based review of the effects of GH supplementation in aging and in sports where recent data indicates an enhancing effect on a selective aspect of performance. Growth Hormone Related Diseases and Therapy: A Molecular and Physiological Perspective for the Clinician integrates a wealth of information and will prove an invaluable reference for pediatric endocrinologists, adult endocrinologists, endocrine scientists and internists interested in the human biology of GH.
Book Synopsis Pathology of Bone and Joint Disorders Print and Online Bundle by : Edward F. McCarthy
Download or read book Pathology of Bone and Joint Disorders Print and Online Bundle written by Edward F. McCarthy and published by Cambridge University Press. This book was released on 2014-11-20 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fully updated new edition covering all aspects of bone and joint diseases in one easily readable volume. Color illustrations throughout.
Book Synopsis The Genetics of African Populations in Health and Disease by : Muntaser E. Ibrahim
Download or read book The Genetics of African Populations in Health and Disease written by Muntaser E. Ibrahim and published by Cambridge University Press. This book was released on 2019-12-19 with total page 351 pages. Available in PDF, EPUB and Kindle. Book excerpt: A pioneering work that focuses on the unique diversity of African genetics, offering insights into human biology and genetic approaches.
Book Synopsis Growth Hormone Resistance by : Martin O. Savage
Download or read book Growth Hormone Resistance written by Martin O. Savage and published by . This book was released on 1996 with total page 9 pages. Available in PDF, EPUB and Kindle. Book excerpt: Examining growth hormone resistance, this text includes coverage of such topics as: growth hormone receptor signalling; metabolic actions of growth hormone - direct and indirect; and IGF bioactivity and its modification in growth hormone resistance in childhood.
Book Synopsis Genetic Steroid Disorders by : Maria I. New
Download or read book Genetic Steroid Disorders written by Maria I. New and published by Academic Press. This book was released on 2023-06-14 with total page 470 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library! - Presents a comprehensive, translational look at all aspects of genetic steroid disorders in one reference work - Provides a common language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to discuss and diagnose genetic steroid disorders Saves clinicians and researchers time in quickly accessing the very latest details on genetic tests and diagnoses as opposed to searching through thousands of journal articles - Highlights significant discoveries with clinical relevance, presenting 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
Download or read book Fetal Medicine written by Bidyut Kumar and published by Cambridge University Press. This book was released on 2016-04-07 with total page 383 pages. Available in PDF, EPUB and Kindle. Book excerpt: Based on the RCOG Training Module in Fetal Medicine, this book provides a knowledge base for practitioners in obstetrics and maternal-fetal medicine.
Book Synopsis Pediatric Practice Endocrinology by : Michael Kappy
Download or read book Pediatric Practice Endocrinology written by Michael Kappy and published by Mcgraw-hill. This book was released on 2009-10-09 with total page 432 pages. Available in PDF, EPUB and Kindle. Book excerpt: Complete how-to-guidance on the evaluation and treatment of endocrine disorders in children "Edited and written by eminent pediatric endocrinologists, this is at present the best book for fellows in training and pediatricians in practice. It comprises in 11 chapters a concise treatise of pediatric endocrine diseases, well written, easy readable, helped by titles and headings in color. Highly illustrated in color and with up-to-date references, it is highly recommended."--Pediatric Endocrinology Reviews 4 STAR DOODY'S REVIEW! "This is a truly useful book for all physicians who care for young patients with endocrine disorders....In creating a how-to guide while breaking down the molecular mechanisms of endocrine diseases, it fills a gap in currently available pediatric endocrinology literature....This excellent book makes it possible for busy first-year endocrinology fellows to gain a broad understanding of the pertinent topics in this field."--Doody's Review Service Pediatric Practice: Endocrinology is an outstanding clinical analysis and decision-making tool for those treating endocrine problems in children. Featuring an innovative problem-oriented approach, this well-illustrated, full-color guide skillfully integrates pathophysiology with clinical management. Numerous figures illustrate the principles of normal and abnormal physiology and treatment rationale and effects. No other resource offers this concise yet comprehensive review of current knowledge, links these concepts with analysis of clinical situations, and provides such practical recommendations for rational and efficient evaluation and treatment of children with endocrine disorders. Pediatric Practice: Endocrinology opens with an introductory chapter that clarifies the link between genetics, cell biology, and physiology with pathophysiology to provide a clear overview of the endocrine system. Subsequent chapters cover disorders of growth, water metabolism, thyroid and adrenal glands, bone and mineral metabolism, puberty, sex development, obesity, diabetes, and hypoglycemia. Throughout the book emphasis is placed on care of the patient, with the goal of optimizing care and improving the medical management and outcomes for these patients. More than 300 full-color images, figures, and tables enhance the presentation. Features of the Pediatric Practice Series: Tips that tell you what you must know--and what you must do--at every stage of care Diagnostic and treatment algorithms "When to Refer" boxes examine all the relevant clinical considerations Diagnostic Tests--with a realistic emphasis on the right tests to order Medical Treatment coverage that includes drugs, dosages, and administration in an easy-to-read tabular format Convenient icons and a consistent chapter design Numerous clinical color photos and didactic diagrams
Book Synopsis Advances in Pediatric Endocrinology by : Carlo Pintor
Download or read book Advances in Pediatric Endocrinology written by Carlo Pintor and published by . This book was released on 1992 with total page 264 pages. Available in PDF, EPUB and Kindle. Book excerpt: Progress in the field of pediatric endocrinology is dramatic, and the flow of information continues at an almost breathtaking pace, making the reappraisal of old topics and the continuous updating of knowledge mandatory. This book brings together a number of papers that reflect exciting new areas of development in relation to growth, growth disorders, and puberty.
