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Author: Benedetto Nicoletti
Publisher: Springer Science & Business Media
Published: 2012-12-06
Total Pages: 471
ISBN-13: 1468487124
DOWNLOAD EBOOKProceedings of the first international symposium held in Rome, Nov. 1986, study the problems of shortness of stature and attempt to find answers to the life-threatening and disabling impairments that affect achondroplasts. Contributions address genetics, ultrastructure, and cartilage histochemistry;
Author: John C. Carey
Publisher: John Wiley & Sons
Published: 2021-01-27
Total Pages: 1104
ISBN-13: 1119432677
DOWNLOAD EBOOKMANAGEMENT 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: The Royal Society
Publisher: National Academies Press
Published: 2021-01-16
Total Pages: 239
ISBN-13: 0309671132
DOWNLOAD EBOOKHeritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.
Author: Jane E. Buikstra
Publisher: Academic Press
Published: 2019-01-29
Total Pages: 859
ISBN-13: 0128099011
DOWNLOAD EBOOKOrtner's Identification of Pathological Conditions in Human Skeletal Remains, Third Edition, provides an integrated and comprehensive treatment of the pathological conditions that affect the human skeleton. As ancient skeletal remains can reveal a treasure trove of information to the modern orthopedist, pathologist, forensic anthropologist, and radiologist, this book presents a timely resource. Beautifully illustrated with over 1,100 photographs and drawings, it provides an essential text and material on bone pathology, thus helping improve the diagnostic ability of those interested in human dry bone pathology. - Presents a comprehensive review of the skeletal diseases encountered in archaeological human remains - Includes more than 1100 photographs and line drawings illustrating skeletal diseases, including both microscopic and gross features - Based on extensive research on skeletal paleopathology in many countries - Reviews important theoretical issues on how to interpret evidence of skeletal disease in archaeological human populations
Author: Toshitaka Oohashi
Publisher: Springer
Published: 2019-03-13
Total Pages: 343
ISBN-13: 981132977X
DOWNLOAD EBOOKThis textbook uses a case-study approach to present the core principles of biochemistry and molecular biology in the context of human disease to students who will be involved in patient care. The 29 clinical cases have been carefully selected to cover key scientific concepts and some common, and other not so common, diseases. While the principal focus is on topics relating to metabolic disease, further subjects such as connective tissue disorders, neurological disorders, auto-inflammatory disorders, infective diseases, and cancer are also addressed. Each chapter provides a specific patient report that includes the natural history, pertinent clinical laboratory data, physical findings, subsequent diagnosis, and therapy. This is followed by a comprehensive discussion of the normal biochemical processes and reactions pertaining to the case, along with the pathophysiological mechanisms of the disease. Graphical diagrams are provided in each chapter for ease of comprehension.
Author: Suzanne B. Cassidy
Publisher: John Wiley & Sons
Published: 2011-09-20
Total Pages: 1678
ISBN-13: 1118210670
DOWNLOAD EBOOKThe 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
Author: LeAdelle Phelps
Publisher: Amer Psychological Assn
Published: 1998-01-01
Total Pages: 743
ISBN-13: 9781557984852
DOWNLOAD EBOOKThis volume features reviews of 96 medical conditions that result in educational, psychological and behavioural challenges for those involved in the care of children with health-related disorders. Each chapter reviews the aetiology of the disorder, which is followed by a section on the expected behavioural and physical outcomes. Authors then describe psychoeducational implications and cover interventions that school psychologists, school-based professionals and medical professionals can use to help ease the suffering of these children.
Author: K. Mohan Iyer
Publisher: Springer
Published: 2019-05-07
Total Pages: 779
ISBN-13: 3030150895
DOWNLOAD EBOOKThe second edition of this book concisely covers the most recent developments in orthopedics and trauma. It features detailed descriptions, x rays, clinical and therapeutic pathway diagrams for a number of commonly encountered disorders including fractures, metabolic disorders, bone tumors, and amputations enabling the reader to develop a deep understanding of the latest information on how to successfully diagnose and treat these patients. General Principles of Orthopedics and Trauma is an ideal resource for trainees and junior surgeons seeking an easy to follow clinical guide on how to successfully diagnose and treat patients with orthopedic and trauma disorders. It is also of use to the experienced practitioner seeking a practically applicable text on the latest advances in the field.
Author: Veronique Dasen
Publisher: Oxford University Press
Published: 2013-03-21
Total Pages: 468
ISBN-13: 0199680868
DOWNLOAD EBOOKThis book examines dwarfs in myth and everyday life in ancient Egypt and Greece. The spectacular forms of dwarfism were always a focus of interest, and it is the most depicted disorder in antiquity. Dasen brings together a whole range of mostly unpublished or little-known iconographic, epigraphic, literary, and anthropological evidence.
Author: Irving M. Shapiro
Publisher: IOS Press
Published: 2002
Total Pages: 312
ISBN-13: 9781586032401
DOWNLOAD EBOOKEvidence 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.
