Studies In Achondroplasia

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Cassidy and Allanson's Management of Genetic Syndromes

Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.1/5 (194 download)

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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.

Studies in Achondroplasia

Author : Meyer Michael Cohen
Publisher :
ISBN 13 :
Total Pages : 334 pages
Book Rating : 4.:/5 (319 download)

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Book Synopsis Studies in Achondroplasia by : Meyer Michael Cohen

Download or read book Studies in Achondroplasia written by Meyer Michael Cohen and published by . This book was released on 1979 with total page 334 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Management of Genetic Syndromes

Author : Suzanne B. Cassidy
Publisher : John Wiley & Sons
ISBN 13 : 1118210670
Total Pages : 1678 pages
Book Rating : 4.1/5 (182 download)

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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

Human Achondroplasia

Author : Benedetto Nicoletti
Publisher : Springer Science & Business Media
ISBN 13 : 1468487124
Total Pages : 471 pages
Book Rating : 4.4/5 (684 download)

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Book Synopsis Human Achondroplasia by : Benedetto Nicoletti

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;

Human Pathobiochemistry

Author : Toshitaka Oohashi
Publisher : Springer
ISBN 13 : 981132977X
Total Pages : 343 pages
Book Rating : 4.8/5 (113 download)

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Book Synopsis Human Pathobiochemistry by : Toshitaka Oohashi

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 343 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.

Dwarfs in Ancient Egypt and Greece

Author : Veronique Dasen
Publisher : Oxford University Press
ISBN 13 : 0199680868
Total Pages : 468 pages
Book Rating : 4.1/5 (996 download)

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Book Synopsis Dwarfs in Ancient Egypt and Greece by : Veronique Dasen

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.

Bone Dysplasias

Author : Jürgen W. Spranger
Publisher : Oxford University Press, USA
ISBN 13 : 0190626658
Total Pages : 929 pages
Book Rating : 4.1/5 (96 download)

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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.

The Growth Plate

Author : Irving M. Shapiro
Publisher : IOS Press
ISBN 13 : 9781586032401
Total Pages : 312 pages
Book Rating : 4.0/5 (324 download)

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Book Synopsis The Growth Plate by : Irving M. Shapiro

Download or read book The Growth Plate written by Irving M. Shapiro and published by IOS Press. This book was released on 2002 with total page 312 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Bioarchaeology of Impairment and Disability

Author : Jennifer F. Byrnes
Publisher : Springer
ISBN 13 : 331956949X
Total Pages : 294 pages
Book Rating : 4.3/5 (195 download)

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Book Synopsis Bioarchaeology of Impairment and Disability by : Jennifer F. Byrnes

Download or read book Bioarchaeology of Impairment and Disability written by Jennifer F. Byrnes and published by Springer. This book was released on 2017-06-28 with total page 294 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the years, impairment has been discussed in bioarchaeology, with some scholars providing carefully contextualized explanations for their causes and consequences. Such investigations typically take a case study approach and focus on the functional aspects of impairments. However, these interpretations are disconnected from disability theory discourse. Other social sciences and the humanities have far surpassed most of anthropology (with the exception of medical anthropology) in their integration of social theories of disability. This volume has three goals: The first goal of this edited volume is to present theoretical and methodological discussions on impairment and disability. The second goal of this volume is to emphasize the necessity of interdisciplinarity in discussions of impairment and disability within bioarchaeology. The third goal of the volume is to present various methodological approaches to quantifying impairment in skeletonized and mummified remains. This volume serves to engage scholars from many disciplines in our exploration of disability in the past, with particular emphasis on the bioarchaeological context.

Pediatric Orthopedics

Author : Amr Abdelgawad
Publisher : Springer Science & Business Media
ISBN 13 : 1461471265
Total Pages : 589 pages
Book Rating : 4.4/5 (614 download)

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Book Synopsis Pediatric Orthopedics by : Amr Abdelgawad

Download or read book Pediatric Orthopedics written by Amr Abdelgawad and published by Springer Science & Business Media. This book was released on 2013-09-24 with total page 589 pages. Available in PDF, EPUB and Kindle. Book excerpt: Topics in pediatric orthopedics routinely surface in general pediatrics and primary care, whether on board exams or in clinical practice. From birth injuries to musculoskeletal infections, there are many conditions and presenting complaints that must be addressed by the primary care physician or pediatrician. This concise and targeted handbook contains just the need to know conditions, injuries, and diseases necessary for residents and even seasoned clinicians to brush up on pediatric orthopedic topics with ease. Information is contained within themed chapters (like neuromuscular diseases or musculoskeletal infections) and also by anatomical region (hip, knee foot, spine, etc.). This book gives readers the basic knowledge to be able to identify common orthopedic conditions, indications to either treat these conditions or refer patient to an orthopedist, and covers the entire required curriculum needed to answer musculoskeletal questions on the pediatrics board exam.

The Minority Body

Author : Elizabeth Barnes
Publisher : Oxford University Press
ISBN 13 : 0191046558
Total Pages : 213 pages
Book Rating : 4.1/5 (91 download)

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Book Synopsis The Minority Body by : Elizabeth Barnes

Download or read book The Minority Body written by Elizabeth Barnes and published by Oxford University Press. This book was released on 2017-04-14 with total page 213 pages. Available in PDF, EPUB and Kindle. Book excerpt: Elizabeth Barnes argues compellingly that disability is primarily a social phenomenon—a way of being a minority, a way of facing social oppression, but not a way of being inherently or intrinsically worse off. This is how disability is understood in the Disability Rights and Disability Pride movements; but there is a massive disconnect with the way disability is typically viewed within analytic philosophy. The idea that disability is not inherently bad or sub-optimal is one that many philosophers treat with open skepticism, and sometimes even with scorn. The goal of this book is to articulate and defend a version of the view of disability that is common in the Disability Rights movement. Elizabeth Barnes argues that to be physically disabled is not to have a defective body, but simply to have a minority body.

Osteogenesis Imperfecta

Author : Javaid Kassim
Publisher : Academic Press
ISBN 13 : 0123977894
Total Pages : 578 pages
Book Rating : 4.1/5 (239 download)

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Book Synopsis Osteogenesis Imperfecta by : Javaid Kassim

Download or read book Osteogenesis Imperfecta written by Javaid Kassim and published by Academic Press. This book was released on 2013-08-06 with total page 578 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Pediatric Orthopedics and Sports Medicine

Author : Amr Abdelgawad
Publisher : Springer Nature
ISBN 13 : 3030481387
Total Pages : 464 pages
Book Rating : 4.0/5 (34 download)

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Book Synopsis Pediatric Orthopedics and Sports Medicine by : Amr Abdelgawad

Download or read book Pediatric Orthopedics and Sports Medicine written by Amr Abdelgawad and published by Springer Nature. This book was released on 2020-11-24 with total page 464 pages. Available in PDF, EPUB and Kindle. Book excerpt: The revised and the expanded second edition of this concise and targeted handbook presents the “need-to-know” musculoskeletal conditions and injuries required for all health care providers dealing with pediatric patients, including primary care physicians, emergency medicine physicians, radiologists, residents, students, nurses, and therapists, to brush up on pediatric orthopedics and sports medicine topics with ease. The most up-to-date information is contained within themed chapters--sports injuries and pediatric trauma, for example--as well as by anatomical region--the hip, knee, foot, spine, etc.--including chapters new to this edition covering pediatric musculoskeletal image interpretation and general aspects of sports medicine. This book addresses high-yield points needed for both general day-to-day pediatric orthopedics and sports medicine practice as well as information needed for the musculoskeletal section of the General Pediatrics Certifying Examination and other board exams for other specialties, physician assistants, nurse practitioners, and physical therapists. Well-illustrated and utilizing an easy-to-follow, bullet-pointed format, Pediatric Orthopedics and Sports Medicine gives the reader the basic knowledge to be able to identify and understand the management of common pediatric orthopedic and sports medicine conditions, and indications to either treat these conditions or refer the patient to an orthopedist.

A Son of the Circus

Author : John Irving
Publisher : Vintage Canada
ISBN 13 : 0307362000
Total Pages : 758 pages
Book Rating : 4.3/5 (73 download)

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Book Synopsis A Son of the Circus by : John Irving

Download or read book A Son of the Circus written by John Irving and published by Vintage Canada. This book was released on 2012-05-08 with total page 758 pages. Available in PDF, EPUB and Kindle. Book excerpt: A Hindi film star and an American missionary are twins separated at birth; a dwarf — a former circus clown — mistakes the missionary for the movie star. And stalking one of them is a serial killer...

Criteria for Determining Disability in Infants and Children

Author : Patricia Grace Wheeler
Publisher : Agency for Healthcare Research & Quality
ISBN 13 :
Total Pages : 254 pages
Book Rating : 4.E/5 ( download)

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Book Synopsis Criteria for Determining Disability in Infants and Children by : Patricia Grace Wheeler

Download or read book Criteria for Determining Disability in Infants and Children written by Patricia Grace Wheeler and published by Agency for Healthcare Research & Quality. This book was released on 2003 with total page 254 pages. Available in PDF, EPUB and Kindle. Book excerpt:

2000 CDC Growth Charts for the United States

Author :
Publisher :
ISBN 13 :
Total Pages : 208 pages
Book Rating : 4.3/5 ( download)

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Book Synopsis 2000 CDC Growth Charts for the United States by :

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:

Placental-Fetal Growth Restriction

Author : Christoph Lees
Publisher : Cambridge University Press
ISBN 13 : 1108548180
Total Pages : 300 pages
Book Rating : 4.1/5 (85 download)

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Book Synopsis Placental-Fetal Growth Restriction by : Christoph Lees

Download or read book Placental-Fetal Growth Restriction written by Christoph Lees and published by Cambridge University Press. This book was released on 2018-03-31 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: Master the effective evaluation, analysis and management of placental-fetal growth restriction (PFGR), reducing the risk of perinatal mortality and morbidity in patients worldwide. Extensively researched by international experts, this manual provides practitioners with a detailed, hands-on approach to the practical 'pearls' for direct patient management. This authoritative volume advises on matters such as the correct evaluation and management of high-risk patients in danger of PFGR through to delivery. Extensive and wide-ranging, this book is an invaluable companion to the developing research interest and clinical applications in PFGR, including developmental outcomes in early childhood. Featuring a critical evaluation of a variety of abnormal conditions, such as fetal hypoxia, which are clearly displayed through extensive illustrations. This essential toolkit ensures that practitioners of all levels can effectively limit the risk of mortality and morbidity, and reach the correct diagnosis, first-time.