Download or read book Human Achondroplasia written by Benedetto Nicoletti and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 471 pages. Available in PDF, EPUB and Kindle. Book excerpt: Proceedings 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;

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.

Download or read book Construction and Characterization of a Molecular and Cellular Model for Human Achondroplasia written by Wiener Wolstin and published by . This book was released on 1997 with total page 34 pages. Available in PDF, EPUB and Kindle. Book excerpt:

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

Download or read book Ortner s Identification of Pathological Conditions in Human Skeletal Remains written by Jane Buikstra and published by Academic Press. This book was released on 2019-01-29 with total page 859 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ortner'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

Download or read book Human achondroplasia International Symposium 1 written by and published by . This book was released on 1988 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Smith s Recognizable Patterns of Human Malformation E Book written by Kenneth Lyons Jones and published by Elsevier Health Sciences. This book was released on 2021-03-02 with total page 1091 pages. Available in PDF, EPUB and Kindle. Book excerpt: Long known as the go-to resource for superbly illustrated, up-to-date coverage in this complex field, Smith's Recognizable Patterns of Human Malformation, 8th Edition, provides a wealth of information on malformation syndromes of environmental and genetic etiology, recognizable disorders of unknown cause, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of disorders. This award-winning reference is indispensable for clinicians in pediatrics, neonatology, family medicine, and genetics, as well as nurse practitioners and physician assistants—anyone who needs a complete, authoritative, and easy-to-read guide to help accurately diagnose human disorders, establish prognoses, and provide appropriate management and genetic counseling. Includes an easy-to-read description of each condition: Common and occasional abnormalities, natural history, etiology, and references. Opposing pages contain descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality. Contains new coverage of Hennekam Syndrome, Parkes Weber Syndrome, KBG Syndrome, Kosaki Overgrowth, Malan Syndrome, and much more. Arranges disorders based on similarity in overall features, so you can easily navigate to the correct section and compare/contrast similar disorders. Features more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones, and others from multiple international collaborators. Provides summarized information in order to understand basic mechanisms of morphogenesis and birth defects and key concepts in genetics and genetic testing—necessary information for counseling patients and parents. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.

Download or read book Heritable Human Genome Editing written by The Royal Society and published by National Academies Press. This book was released on 2021-01-16 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt: Heritable 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.

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

Download or read book Human Pathobiochemistry written by Toshitaka Oohashi and published by Springer. This book was released on 2019-03-13 with total page 349 pages. Available in PDF, EPUB and Kindle. Book excerpt: This 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.

Download or read book 2000 CDC Growth Charts for the United States written by and published by . This book was released on 2002 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Health related Disorders in Children and Adolescents written by LeAdelle Phelps and published by Amer Psychological Assn. This book was released on 1998-01-01 with total page 743 pages. Available in PDF, EPUB and Kindle. Book excerpt: This 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.

Download or read book A Little Me written by Amy Roloff and published by Simon and Schuster. This book was released on 2019-05-15 with total page 203 pages. Available in PDF, EPUB and Kindle. Book excerpt: From the star of TLC’s hit reality show Little People BIG World comes a revelatory memoir that will inspire those who have long followed the Roloff’s and newcomers alike. “A Little Me by Amy Roloff is a feel-good, inspirational memoir about a remarkable woman who addresses challenges head-on with a positive outlook and deep faith.” – New York Journal of Books Whatever package you come in, life isn’t easier or harder than another’s because you are different physically. There may be more challenges, but still, everyone has challenges. “God doesn’t make mistakes.” For Amy Roloff, star of TLC’s hit reality show Little People, BIG World, her father’s words would repeatedly serve as an anchor, reminding her of her inherent worth and purpose, whenever feelings of insecurity and inadequacy surfaced and threatened to overwhelm her. In A Little Me, Amy shares what it was like growing up with achondroplasia dwarfism, how she struggled to overcome obstacles both physical and emotional—navigating the average-size world as a little person, dealing with a serious illness as a young girl, bullying, and issues of body image and unachievable beauty ideals—while learning, as we all must, to accept herself for who she is. Finally allowing herself to be vulnerable enough to open up to others, she learned that it’s worth risking possible rejection for a chance at genuine relationships. Amy’s memoir is an inspiring and at times heart-wrenching account of resilience and the strength of the human spirit to overcome seemingly insurmountable obstacles.

Download or read book Chest Wall Deformities written by Amulya K. Saxena and published by Springer. This book was released on 2017-06-07 with total page 717 pages. Available in PDF, EPUB and Kindle. Book excerpt: Chest wall deformities encompass a variety of congenital and acquired pathologies that affect the pediatric and the adult population. This comprehensive work offers detailed state of the art information on the changing paradigms in ultrastructural evaluation, diagnosis, clinical investigation, and treatment and reflects the shift towards conservative and minimally invasive treatment options. The combination of concise descriptions and high-quality images will provide the reader with a clear understanding of all relevant concepts. Diagnostic and imaging modalities are analysed in depth, and surgical procedures are explained step by step with the aid of clear, informative illustrations. Experts in the management of chest wall deformities from all over the world have contributed their experiences and approaches, making this a unique textbook in the field and an ideal reference work for clinicians and surgeons.​

Download or read book An Introduction to Human Molecular Genetics written by Jack J. Pasternak and published by John Wiley & Sons. This book was released on 2005-06-14 with total page 656 pages. Available in PDF, EPUB and Kindle. Book excerpt: An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expandsits coverage of the molecular genetics of inherited human diseaseswith the latest research findings and discoveries. Using a unique,systems-based approach, the text offers readers a thoroughexplanation of the gene discovery process and how defective genesare linked to inherited disease states in major organ and tissuesystems. All the latest developments in functional genomics,proteomics, and microarray technology have been thoroughlyincorporated into the text. The first part of the text introduces readers to the fundamentalsof cytogenetics and Mendelian genetics. Next, techniques andstrategies for gene manipulation, mapping, and isolation areexamined. Readers will particularly appreciate the text'sexceptionally thorough and clear explanation of genetic mapping.The final part features unique coverage of the molecular geneticsof distinct biological systems, covering muscle, neurological, eye,cancer, and mitochondrial disorders. Throughout the text, helpfulfigures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text'ssame lucid and engaging style, and will find a wealth of new andexpanded material that brings them fully up to date with a currentunderstanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting,and human population genetics * Expanded and fully revised section on clinical genetics, coveringdiagnostic testing, molecular screening, and varioustreatments This text is targeted at upper-level undergraduate students,graduate students, and medical students. It is also an excellentreference for researchers and physicians who need a clinicallyrelevant reference for the molecular genetics of inherited humandiseases.

Download or read book Dwarfs in Ancient Egypt and Greece written by Veronique Dasen and published by Oxford University Press. This book was released on 2013-03-21 with total page 468 pages. Available in PDF, EPUB and Kindle. Book excerpt: This 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.

Download or read book Skeletal Anatomy of the Newborn Primate written by Timothy D. Smith and published by Cambridge University Press. This book was released on 2020-05-28 with total page 321 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first clearly-illustrated, comparative book on developmental primate skeletal anatomy, focused on the highly informative newborn stage.