Author : Long Guo
Publisher : Frontiers Media SA
Page : 149 pages
File Size : 47,86 MB
Release : 2023-05-03
Category : Science
ISBN : 2832516467
Author : John C. Carey
Publisher : John Wiley & Sons
Page : 1104 pages
File Size : 32,86 MB
Release : 2021-01-27
Category : Science
ISBN : 1119432677
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.
Author : Jürgen W. Spranger
Publisher : Oxford University Press, USA
Page : 929 pages
File Size : 30,4 MB
Release : 2018
Category : Medical
ISBN : 0190626658
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.
Author : Peter M. Royce
Publisher : John Wiley & Sons
Page : 1201 pages
File Size : 16,46 MB
Release : 2003-04-14
Category : Medical
ISBN : 0471461172
The Second Edition of Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects is the definitive reference text in its field, with over 40% more pages on the nature, diagnosis, and treatment of disease than its predecessor. Collecting new research on disorders detailed in the first edition as well as on those previously excluded, editors Peter Royce and Beat Steinmann provide the most up-to-date clinical and scientific information for medical specialists treating affected individuals. Features of this revised and updated volume include detailed reviews of the clinical diagnosis, mode of inheritance, risk of recurrence, and prenatal diagnosis of each inherited connective tissue disorder; a thorough description of the morphology of connective tissues; a completely updated and revised section on the biology of the extracellular matrix; and the addition of syndromes such as craniosyntosis, and disorders of sulfate metabolism.
Author : Javaid Kassim
Publisher : Academic Press
Page : 578 pages
File Size : 26,59 MB
Release : 2013-08-06
Category : Medical
ISBN : 0123977894
Osteogenesis Imperfecta is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Although several reviews of the field have been published in various journals, there is no other single source for a compendium of current information. Separate chapters discuss each of the several clinical features of OI. Ethical issues related to OI are discussed, as is the importance of nutrition in managing the OI child and the OI adult. The role of physical medicine and rehabilitation for OI patients is also presented, along with the current status of OI medical treatment and the prospects for genetic engineering in the future. The text also provides the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI. - Incorporates chapters and information on the ethical issues related to osteogenesis imperfecta (OI) as will the importance of nutrition in managing the OI child and the OI adult - Offers new insights into the underlying mechanisms of collagen biochemistry as related to OI as well as a presentation of intracellular collagen processing and the expanded role of protein chaperones in OI - Discusses the role of physical medicine and rehabilitation for OI patients and the current status of OI medical treatment as well as prospects for genetic engineering in the future - Provides a unique overview for the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI
Author : Hooshang Taybi
Publisher : Mosby Incorporated
Page : 1135 pages
File Size : 46,39 MB
Release : 1996
Category : Medical
ISBN : 9780815187097
Intended for the practitioner and student, this clinical radiologic reference is one of the most widely used by pediatric radiologists today. This edition features an expanded Gamuts section, which presents differential diagnoses of various clinical and radiologic symptoms and signs. Genetic information on syndromes and disorders is also included.
Author : Irving M. Shapiro
Publisher : IOS Press
Page : 312 pages
File Size : 16,92 MB
Release : 2002
Category : Computers
ISBN : 9781586032401
Evidence generated by a number of genetic studies indicates that growth is regulated by a number of genes and that interference with their expression can have catastrophic effects on the well being of the whole organism. This work covers skeletal development and growth.
Author : United States Public Health Service
Publisher :
Page : 0 pages
File Size : 50,78 MB
Release : 2004-12
Category : Health & Fitness
ISBN : 9781410219275
This first-ever Surgeon General's Report on bone health and osteoporosis illustrates the large burden that bone disease places on our Nation and its citizens. Like other chronic diseases that disproportionately affect the elderly, the prevalence of bone disease and fractures is projected to increase markedly as the population ages. If these predictions come true, bone disease and fractures will have a tremendous negative impact on the future well-being of Americans. But as this report makes clear, they need not come true: by working together we can change the picture of aging in America. Osteoporosis, fractures, and other chronic diseases no longer should be thought of as an inevitable part of growing old. By focusing on prevention and lifestyle changes, including physical activity and nutrition, as well as early diagnosis and appropriate treatment, Americans can avoid much of the damaging impact of bone disease and other chronic diseases. This Surgeon General's Report brings together for the first time the scientific evidence related to the prevention, assessment, diagnosis, and treatment of bone disease. More importantly, it provides a framework for moving forward. The report will be another effective tool in educating Americans about how they can promote bone health throughout their lives. This first-ever Surgeon General's Report on bone health and osteoporosis provides much needed information on bone health, an often overlooked aspect of physical health. This report follows in the tradition of previous Surgeon Generals' reports by identifying the relevant scientific data, rigorously evaluating and summarizing the evidence, and determining conclusions.
Author : Roger E. Stevenson
Publisher : Oxford University Press
Page : 1510 pages
File Size : 12,56 MB
Release : 2005-10-27
Category : Medical
ISBN : 019974808X
This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, and the revised edition fully incorporates the advances made in the field during the intervening years.. It reflects new understanding of human developmental biology that has emerged from molecular, cytogenetic, and biochemical studies; new observations by clinicians as well as enhanced diagnostic and prevention capacities; and more accurate and comprehensive epidemiology. By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. Stevenson and Hall and their contributors have managed to update the book while reducing its size to that of a single volume. All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.
Author : Rajesh V. Thakker
Publisher : Academic Press
Page : 880 pages
File Size : 34,38 MB
Release : 2017-10-31
Category : Science
ISBN : 0128041986
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
