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Osteogenesis Imperfecta

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Osteogenesis Imperfecta

Osteogenesis Imperfecta Book
Author : Peter H. Byers,Paul Sponseller
Publisher : Academic Press
Release : 2013-08-06
ISBN : 0123977894
Language : En, Es, Fr & De

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Book Description :

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

Handle with Care

Handle with Care Book
Author : Jodi Picoult
Publisher : Simon and Schuster
Release : 2009-03-03
ISBN : 1439156301
Language : En, Es, Fr & De

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Book Description :

When Willow is born with severe osteogenesis imperfecta, her parents are devastated—she will suffer hundreds of broken bones as she grows, a lifetime of pain. In this provocative story from the #1 New York Times bestselling author, “Picoult writes with unassuming brilliance” (Stephen King). Every expectant parent will tell you that they don’t want a perfect baby, just a healthy one. Charlotte and Sean O’Keefe would have asked for a healthy baby, too, if they’d been given the choice. Instead, their lives are made up of sleepless nights, mounting bills, the pitying stares of “luckier” parents, and maybe worst of all, the what-ifs. What if their child had been born healthy? But it’s all worth it because Willow is, funny as it seems, perfect. She’s smart as a whip, on her way to being as pretty as her mother, kind, brave, and for a five-year-old an unexpectedly deep source of wisdom. Willow is Willow, in sickness and in health. Everything changes, though, after a series of events forces Charlotte and her husband to confront the most serious what-ifs of all. What if Charlotte had known earlier of Willow’s illness? What if things could have been different? What if their beloved Willow had never been born? To do Willow justice, Charlotte must ask herself these questions and one more. What constitutes a valuable life? Emotionally riveting and profoundly moving, Handle with Care is an unforgettable novel about the fragility of life and the lengths we will go to protect it.

Pediatric Bone

Pediatric Bone Book
Author : Francis H. Glorieux,John M. Pettifor,Harald Jüppner
Publisher : Academic Press
Release : 2011-09-28
ISBN : 0123820405
Language : En, Es, Fr & De

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Book Description :

The second edition of this classic reference deals exclusively with the biology and diseases of bone as they affect children. Rapid advances have been made in our understanding of the mechanisms and factors controlling the growth and development of bone, and these are discussed in detail in this book. Further, the various diseases of bone that are peculiar to children are highlighted and discussed in the light of our current knowledge with regard to causation, clinical signs and treatment. The book is aimed to provide those clinicians interested in children's diseases and basic scientists with a comprehensive resource covering the various aspects of bone health and disease in children. Deals exclusively with bone development and diseases of children and each chapter is written by an expert in the field Fully referenced providing an appendix of usually difficult to find information on the investigation of pediatric bone disease and reference values Covers both the physiology of bone and mineral homeostasis in children and diseases in one book

Osteogenesis Imperfecta Awareness

Osteogenesis Imperfecta Awareness Book
Author : Royal Ribbon Publishing
Publisher : Unknown
Release : 2019-11-04
ISBN : 9781705513866
Language : En, Es, Fr & De

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Book Description :

Looking for a great gift? Need a new journal in your life? This unique journal notebook black lined with full-color soft cover. Blank lined pages are provided for you to put your thoughts, hopes, experiences, likes, and dislikes.100 pages professionally bound book with durable glossy cover to protect your book Great gift idea Measures 6" x 9" Designed by "Royal Ribbon Publishing"

Cassidy and Allanson s Management of Genetic Syndromes

Cassidy and Allanson s Management of Genetic Syndromes Book
Author : John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil
Publisher : John Wiley & Sons
Release : 2020-10-22
ISBN : 1119432650
Language : En, Es, Fr & De

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Book Description :

The most recent update to one of the most essential references on medical genetics Cassidy and Allanson's Management of Genetic Syndromes, 4th 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 for students, clinicians, and researchers in the field of medical genetics. The 4th 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. Each, "expert authored", 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 health care professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Osteogenesis Imperfecta

Osteogenesis Imperfecta Book
Author : Richard W. Kruse
Publisher : Springer Nature
Release : 2020-05-22
ISBN : 3030425274
Language : En, Es, Fr & De

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Book Description :

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a genetic disease involving primarily the skeleton but affecting all organ systems. It is an extremely multifarious condition causing frequent fractures and limb and spinal deformity, which can often be severe. While there are described surgical procedures to treat these patients, due to the variety of the deformities and the fragility of the bone, the orthopaedic surgeon is often forced to adapt or modify a plan during an operation to achieve success. Surgical experience with the disease worldwide is often limited and variable, and due to constraints on medical equipment and surgical implants in resource-constrained countries, alternate methods of achieving the similar surgical endpoints are possible. This book will help guide decision-making in surgery using biologic and surgical principles to assist the planning and execution of surgery with available resources. It will then provide the surgeon with background knowledge of the genetic, medical and surgical principles necessary to formulate a comprehensive treatment plan, illustrated by varied and complex patient cases from experienced surgeons and clinicians worldwide. Beginning with an introduction to osteogenesis imperfecta and the general care of the patient, the book is divided into thematic sections covering general surgical considerations, principles of extremity surgery, and surgical cases on the pelvis, upper and lower extremities, and the spine, it will incorporate aspects of surgical decision-making, including cultural and geographic factors, to give a truly global perspective on the care of these complex patients.

Clinical and Molecular Heterogeneity of Osteogenesis Imperfecta

Clinical and Molecular Heterogeneity of Osteogenesis Imperfecta Book
Author : Meena Balasubramanian
Publisher : Biota Publishing
Release : 2017-01-31
ISBN : 161504745X
Language : En, Es, Fr & De

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Book Description :

Osteogenesis imperfecta (OI) is a disease encompassing a group of disorders mainly characterized by bone fragility and is the commonest form of heritable bone fragility. In this book, the clinical presentations with particular emphasis on rare phenotypes associated with OI are discussed together with molecular advances in diagnosis and treatment of OI. There is a broad spectrum of clinical severity in OI, ranging from multiple fractures in utero and perinatal death, to near-normal adult stature and low fracture incidence. Facial dysmorphism has been noted, but is not well described, nor is it an invariable feature. Sillence et al., in 1979, provided the clinical classification, which has been further expanded. Genetic defects in type 1 collagen can be identified in 85% of patients with a clinical diagnosis of OI, that is, mutations in COL1A1/COL1A2, which follows an autosomal dominant pattern of inheritance. Several genes have now been implicated in autosomal recessive forms of OI and X-linked osteoporosis. Given the possible antenatal presentation and prognosis associated with OI, it is important to make this diagnosis early and be able to distinguish this from other lethal skeletal dysplasias. It is also important to distinguish nonaccidental injury from a pathological cause of fractures, such as OI, and diagnose this promptly in these situations. However, this is not always possible due to variability in presentation and inability to pinpoint the precise genetic etiology despite extensive genetic testing. OI is one such rare genetic condition where treatment is available in the form of bisphosphonates, which has a huge impact on quality of life. Despite advances in medical therapy, multidisciplinary management including physiotherapy remains the mainstay of treatment and improved outcomes in OI.

Naomi

Naomi Book
Author : Olivia Shin
Publisher : Unknown
Release : 2019-09-14
ISBN : 9781087800035
Language : En, Es, Fr & De

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Book Description :

Meet Naomi. She is 8 years old and has a mom, a dad, and a baby brother named Johnny. Naomi was born with Osteogenesis Imperfecta (OI), and that makes her bones as fragile as glass. This can make life difficult for Naomi when it comes to participating in activities or fitting in with others. But don't take my word for it. Let her tel you in her own words.

Brittle Bones Stout Hearts and Minds Adults with Osteogenesis Imperfecta

Brittle Bones  Stout Hearts and Minds  Adults with Osteogenesis Imperfecta Book
Author : Joan Ablon
Publisher : Jones & Bartlett Publishers
Release : 2010-10-22
ISBN : 1449671438
Language : En, Es, Fr & De

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Book Description :

Brittle Bones, Stout Hearts and Minds is written for patients with Osteogenesis Imperfecta (OI), their families and those who treat them including physicians, nurses, social workers, genetics counselors, and other persons with interests in differing kinds of physical disabilities. The book chronicles life experiences, coping patterns, and strategies for daily living of adults with OI, through personal accounts of medical experiences, education, economics, physical intimacy, dating, marriage, and general lifestyle issues. There are no other comparable books that deal with psychosocial issues of adults with OI.

Osteogenesis Imperfecta New Insights for the Healthcare Professional 2012 Edition

Osteogenesis Imperfecta  New Insights for the Healthcare Professional  2012 Edition Book
Author : Anonim
Publisher : ScholarlyEditions
Release : 2012-12-10
ISBN : 1464976651
Language : En, Es, Fr & De

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Book Description :

Osteogenesis Imperfecta: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Osteogenesis Imperfecta in a concise format. The editors have built Osteogenesis Imperfecta: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Osteogenesis Imperfecta in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Osteogenesis Imperfecta: New Insights for the Healthcare Professional / 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Osteogenesis Imperfecta New Insights for the Healthcare Professional 2013 Edition

Osteogenesis Imperfecta  New Insights for the Healthcare Professional  2013 Edition Book
Author : Anonim
Publisher : ScholarlyEditions
Release : 2013-07-22
ISBN : 1481661078
Language : En, Es, Fr & De

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Book Description :

Osteogenesis Imperfecta: New Insights for the Healthcare Professional: 2013 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Additional Research in a concise format. The editors have built Osteogenesis Imperfecta: New Insights for the Healthcare Professional: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Additional Research in this book to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Osteogenesis Imperfecta: New Insights for the Healthcare Professional: 2013 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Emery and Rimoin s Principles and Practice of Medical Genetics

Emery and Rimoin s Principles and Practice of Medical Genetics Book
Author : Alan E. H. Emery,David L. Rimoin
Publisher : Unknown
Release : 2002
ISBN : 9780443064340
Language : En, Es, Fr & De

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Book Description :

Download Emery and Rimoin s Principles and Practice of Medical Genetics book written by Alan E. H. Emery,David L. Rimoin, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Metabolic Bone Diseases

Metabolic Bone Diseases Book
Author : Pauline M. Camacho
Publisher : Springer
Release : 2019-02-22
ISBN : 3030036944
Language : En, Es, Fr & De

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Book Description :

This concise, case-based text discusses the current state of the art for the diagnosis and management of metabolic bones diseases. Each chapter opens with a unique case presentation and utilizes a consistent format that includes relevant anatomy, physiology, and pathophysiology as well as examination, treatment approaches and clinical outcomes. Topics covered include osteoporosis, rickets and osteomalacia, hypoparathyroidism and pseudohypoparathyroidism, osteogenesis imperfecta, Paget's disease of bone, calcium and phosphorous disorders, hypophosphatasia, sclerotic bone disorders, fibrous and osteochondroplasia, and other malignancies of bone. Written and edited by experts in the field, Metabolic Bone Diseases is a valuable resource for practicing endocrinologists, rheumatologists and orthopedic surgeons, residents and fellows.

Consults in Obstetric Anesthesiology

Consults in Obstetric Anesthesiology Book
Author : Suzanne K. W. Mankowitz
Publisher : Springer
Release : 2018-11-15
ISBN : 3319596802
Language : En, Es, Fr & De

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Book Description :

This text addresses the need for a book specifically aimed at obstetric anesthesia and covers topics such as pulmonary, cardiac renal, hepatic, hematologic, neurologic, endocrine and other diseases. The real anesthetic challenge arises when patients present to Labor and Delivery with unusual or complicated medical problems and, in recent years, a few of the larger institutions have developed an Obstetric Anesthesiology Consultation Service to prepare for the management of these patients. While most pregnant women who present to Labor and Delivery require anesthetic intervention, they typically meet the anesthesiologist for the first time in labor. Since the majority of laboring women are healthy without significant comorbidities, this does not present much of a challenge to the anesthesiologist and the anesthetic management tends to be straight-forward with favorable outcomes. However, using this new model, the anesthesiologist has the opportunity to discuss the various treatment modalities and potentially suggest diagnostic testing to be performed prior to delivery, similar to the pre-operative testing that is done in other surgical environments.

Living with Osteogenesis Imperfecta

Living with Osteogenesis Imperfecta Book
Author : Heidi C. Glauser
Publisher : Unknown
Release : 1994
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Living with Osteogenesis Imperfecta book written by Heidi C. Glauser, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Connective Tissue and Its Heritable Disorders

Connective Tissue and Its Heritable Disorders Book
Author : Peter M. Royce,Beat Steinmann
Publisher : John Wiley & Sons
Release : 2003-04-14
ISBN : 0471461172
Language : En, Es, Fr & De

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Book Description :

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.

Calcium and Bone Disorders in Children and Adolescents

Calcium and Bone Disorders in Children and Adolescents Book
Author : J. Allgrove,N.J. Shaw
Publisher : Karger Medical and Scientific Publishers
Release : 2015-06-11
ISBN : 3318054674
Language : En, Es, Fr & De

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Book Description :

There has been a rapid expansion of knowledge in the field of paediatric calcium and bone disorders over the past twenty years. Advances have been made in the underlying genetic basis for many conditions in conjunction with progress in bone density and geometry imaging and the development of new treatment options. The 2nd revised edition of ‘Calcium and Bone Disorders in Children and Adolescents’ presents up-to-date information on many aspects included in the 1st edition such as the physiology, pathology, diagnosis and management of numerous conditions including a chapter of case histories illustrating clinical aspects. New chapters on skeletal dysplasias, the genetics of osteoporosis, radiological imaging of bone and a practical approach to a child with recurrent fractures are included. Providing a comprehensive update, this book is a useful clinical resource for paediatricians and specialists in endocrinology, metabolic bone disease, nephrology, rheumatology, radiology, orthopaedics and clinical genetics who may be faced with a child with a calcium and/or bone disorder.

Osteogenesis Imperfecta

Osteogenesis Imperfecta Book
Author : Association Of Genetic Support Of Australasia Inc Staff,David Sillence,Jenny Ault
Publisher : Unknown
Release : 2001
ISBN : 9780957901001
Language : En, Es, Fr & De

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Book Description :

Download Osteogenesis Imperfecta book written by Association Of Genetic Support Of Australasia Inc Staff,David Sillence,Jenny Ault, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genetics of Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease Book
Author : Rajesh V. Thakker,Michael P. Whyte,John Eisman,Takashi Igarashi
Publisher : Academic Press
Release : 2012-12-31
ISBN : 0123878306
Language : En, Es, Fr & De

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Book Description :

This book 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 evaluations of treatments. The book is aimed at all students of bone biology and genetics, and with this in mind, it includes general introductory chapters on genetics and bone biology and more specific disease-orientated chapters, which comprehensively summarize the clinical, genetic, molecular genetic, animal model, functional and molecular pathology, diagnostic, counselling and treatment aspects of each disorder. Saves academic, medical, and pharma researchers time in quickly accessing the very latest details on a broad range of genetic bone issues, as opposed to searching through thousands of journal articles. Provides a common language for bone biologists and geneticists to discuss the development of bone cells and genetics and their interactions in the development of disease Researchers in all areas bone biology and genetics will gain insight into how clinical observations and practices can feed back into the research cycle and will, therefore, be able to develop more targeted genomic and proteomic assays For those clinical researchers who are also MDs, correct diagnosis (and therefore correct treatment) of bone diseases depends on a strong understanding of the molecular basis for the disease.

Harper s Textbook of Pediatric Dermatology

Harper s Textbook of Pediatric Dermatology Book
Author : Peter H. Hoeger,Veronica Kinsler,Albert C. Yan,Christine Bodemer,Margarita Larralde,David Luk,Vibhu Mendiratta,Diana Purvis
Publisher : John Wiley & Sons
Release : 2019-12-04
ISBN : 1119142806
Language : En, Es, Fr & De

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Book Description :

A consummate classic with a fresh approach to pediatric dermatology Children ́s skin is different. Maturation affects the epidermal barrier, the cutaneous microbiome, adnexal structures, vasculature, and transcutaneous absorption of drugs. The immature skin is more susceptible to pathogens and environmental disruption. Many genetic disorders are either present at birth or manifest early in childhood. Skin diseases thus present differently in children than in adults. Pediatric dermatology has seen significant advances over the last decade, particularly in the field of molecular genetics research, which has furthered our understanding of the pathogenesis of many skin diseases and the development of new approaches to treatment. This fourth edition of the Harper classic provides state-of-the-art information on all aspects of skin disease in children. It covers the diagnosis and treatment of all conditions - both common and rare - with a consistently evidence-based approach. Existing content has been refreshed and fully updated to reflect emerging thinking and to incorporate the latest in research and clinical data - especially at the genetic level. This new fourth edition includes: Greater focus on the genetics behind skin disease, including new genes/genodermatoses, progress in genetic analysis, and stem cell transplants Increased coverage of lasers and other technologies used to treat skin disease More summary tables, learning points, tables of differential diagnosis, and clinical algorithms for diagnosis and management Additional online features, including patient information links and multiple choice questions Harper's Textbook of Pediatric Dermatology delivers crucial clinical insights and up-to-date research information that spans the breadth of the field. As the most comprehensive reference book on this subject available, this revised fourth edition will support and guide the daily practice of both dermatologists and pediatricians across the world.