November 29, 2020

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Osteogenesis Imperfecta

Osteogenesis Imperfecta
Author : Peter H. Byers,Paul Sponseller
Publisher : Academic Press
Release Date : 2013-08-06
Category : Medical
Total pages :578
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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

Osteogenesis Imperfecta

Osteogenesis Imperfecta
Author : Richard W. Kruse
Publisher : Springer Nature
Release Date : 2020-05-22
Category : Medical
Total pages :291
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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.

Brittle Bones, Stout Hearts and Minds: Adults with Osteogenesis Imperfecta

Brittle Bones, Stout Hearts and Minds: Adults with Osteogenesis Imperfecta
Author : Joan Ablon
Publisher : Jones & Bartlett Publishers
Release Date : 2010-10-22
Category : Medical
Total pages :256
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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.

Clinical and Molecular Heterogeneity of Osteogenesis Imperfecta

Clinical and Molecular Heterogeneity of Osteogenesis Imperfecta
Author : Meena Balasubramanian
Publisher : Biota Publishing
Release Date : 2017-01-31
Category : Science
Total pages :63
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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.

Osteogenesis Imperfecta: New Insights for the Healthcare Professional: 2011 Edition

Osteogenesis Imperfecta: New Insights for the Healthcare Professional: 2011 Edition
Author : Anonim
Publisher : ScholarlyEditions
Release Date : 2012-01-09
Category : Medical
Total pages :19
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Osteogenesis Imperfecta: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Osteogenesis Imperfecta in a compact format. The editors have built Osteogenesis Imperfecta: New Insights for the Healthcare Professional: 2011 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: 2011 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
Author : Anonim
Publisher : ScholarlyEditions
Release Date : 2013-07-22
Category : Medical
Total pages :60
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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/.

Osteogenesis Imperfecta in Holstein Calves

Osteogenesis Imperfecta in Holstein Calves
Author : Joao Batista da Cruz
Publisher : Unknown
Release Date : 1983
Category : Calves
Total pages :242
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An inherited disease resembling human osteogenesis imperfecta (OI) was diagnosed in Holstein calves in Texas. Although the progenitor bull was clinically normal and only 25% of its progeny were affected, dominant inheritance was confirmed by the birth of an affected calf in a cross-breeding study. The defective gene probably arose as a de novo gonadal mutation in the bull. Affected calves had marked bone fragility with multiple in utero and perinatal bone fractures, joint laxity, blue sclerae, and pink, friable teeth. Microscopically, there was marked hypoplasia of tendons, dentin, sclerae and skin, and defective bone apposition, resulting in osteopenia, and in some cases, multiple trabecular microfractures. Ultrastructurally, there was dilation of the rough endoplasmic reticulum in osteoblasts, odontoblasts and fibroblasts of sclerae, skin and tendons, and reduced collagen fibril diameter in sclerae, skin and tendons. Biochemical alterations included delayed electrophoretic migration of collagen (alpha) chains in extracts of bone, tendon and skin, and increased hydroxylation of lysine residues in type I collagen from bone. Arrested development of embryonic mesenchymal cells which produce type I collagen is suggested as a possible mechanism for the alterations observed in this disease. The clinical and morphological characteristics of this disease were similar, but not identical, to a disease reported in Holstein-Friesian cattle in Australia. These two bovine syndromes should prove to be valuable animal models of human OI.

Occlusion of Patients with Osteogenesis Imperfecta

Occlusion of Patients with Osteogenesis Imperfecta
Author : Cynthia Carbone
Publisher : Unknown
Release Date : 2016
Category :
Total pages :129
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Introduction: Osteogenesis imperfecta (OI) is an inherited collagen disorder characterized by defective connective tissue with an incidence of 1 in 20,000 births. There is a marked over-representation of Class III malocclusion, negative overjet and lateral openbite in the OI population. Objectives: Primary objective is to evaluate whether the severity of the malocclusions present in OI patients is proportional to the severity of the syndrome. Secondary objective is to evaluate whether the malocclusion severity increases with age. Methods: Retrospective observational study performed by calculating the Discrepancy Index (DI) of 56 dental casts of patients with mild to severe OI. DI scores were compared to three variables that characterize the severity of the syndrome: OI type, genetic type and height z-score of each patient. In addition, longitudinal analysis of a subset of 20 OI casts was done to determine whether the malocclusion increases in severity with time. Results: The median DI score was 33.5 [1, 109]. The DI score increased with increasing severity of OI type (p=0.001) and decreasing height z-score (p

Bovine Osteogenesis Imperfecta (Australia Type)

Bovine Osteogenesis Imperfecta (Australia Type)
Author : Laurence John Denholm
Publisher : Unknown
Release Date : 1985
Category : Cattle
Total pages :688
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Naomi: A Story of a Young Girl with Osteogenesis Imperfecta

Naomi: A Story of a Young Girl with Osteogenesis Imperfecta
Author : Olivia Shin
Publisher : Unknown
Release Date : 2019-10-16
Category :
Total pages :38
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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.

Living with Osteogenesis Imperfecta

Living with Osteogenesis Imperfecta
Author : Heidi C. Glauser
Publisher : Unknown
Release Date : 1994
Category : Osteogenesis imperfecta
Total pages :287
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Characterization of Canine Osteogenesis Imperfecta

Characterization of Canine Osteogenesis Imperfecta
Author : Bonnie Grambow Campbell
Publisher : Unknown
Release Date : 1999
Category :
Total pages :380
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Murine models used in the study of OI include the oim mouse, which carries a naturally occurring recessive COL1A2 frameshift mutation, and the Mov13 mouse, in which a viral insertion prevents transcription of COL1A1. However, neither of these mice simulate the naturally occurring, usually dominant, COL1 point mutations that predominate in human OI.

Caries Prevalence and Experience in Individuals with Osteogenesis Imperfecta

Caries Prevalence and Experience in Individuals with Osteogenesis Imperfecta
Author : Mang Shin Ma
Publisher : Unknown
Release Date : 2018
Category :
Total pages :129
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"Objective: Osteogenesis Imperfecta (OI) is a heritable bone fragility disorder of wide ranging severity, which sometimes also manifests tooth abnormalities known as Dentinogenesis Imperfecta (DI). It is unreported how the OI severity and these tooth abnormalities affects Caries Prevalence and Experience (CPE) in these individuals. The objectives of this study were to quantify the caries experience among different OI types and quantify how these values change due to DI. Methods: The adjusted DFT scores were used to account for frequent hypodontia, impacted teeth and retained teeth in an OI population. Univariate logistic regression followed by stepwise multivariate logistic regression was conducted to determine which clinical characteristics were associated with increased CPE in patients with OI. Results: This study included 319 participants (median age=18.4years, range=2.8-75.8years with OI types I (n=150), III (n=68) and IV (n=101). Overall, no statistically significant difference for CPE was found between sexes, OI type or for bisphosphonate use. Only variables such as age and DI were statistically significant in CPE. Univariate regression of these variables revealed that the presence of DI is positively associated with CPE. These independent variables were entered in stepwise regression analysis to ascertain their association with CPE. The presence of DI (OR 2.43; CI 1.37 to 4.32; p=0.002) while controlling for age emerged as the significant independent predictor of CPE in the final model. Conclusion: Although, there is an association between DI and CPE, we did not find sufficient evidence to reject the hypothesis that the relationship between the increase in the severity of OI is associated with the increase in Caries Experience in a population of individuals with OI." --

Third International Conference on Osteogenesis Imperfecta

Third International Conference on Osteogenesis Imperfecta
Author : Giuseppe Cetta,Francesco Ramirez,Petros Tsipouras
Publisher : Unknown
Release Date : 1988
Category : Electronic books
Total pages :187
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The Genetics of Cardiovascular Disease

The Genetics of Cardiovascular Disease
Author : Mary Ella Mascia Pierpont,James H. Moller
Publisher : Springer Science & Business Media
Release Date : 2012-12-06
Category : Medical
Total pages :374
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Over the past 25 years, the growing impor cardiovascular. We hope that by having this tance of genetic factors in the basic understand compilation of cardiovascular diseases in one ing of human cardiovascular disease has become source, it will be of value to all who are involved apparent. Prior to this time, there was an era in the care of patients with cardiovascular dis when cardiovascular disease was first viewed at ease or their families. the diagnostic level followed by an era when The first six chapters of this book delineate cardiovascular disease was viewed at a treatment conditions related to congenital cardiac mal level. The first era occurred at the turn of the formations. Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases. The development of formations. The first chapter provides discus diagnostic methodology, such as radiographic sion of mechanisms of maldevelopment of the studies and electrocardiography, led to marked heart. We believe that these mechanisms pro changes in our understanding of cardiovascular vide a basis for understanding the genetic and disease. This era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations. Chapter 2 describes the occurrence of con of medication such as antibiotics, and more genital cardiac malformations in families and sophisticated surgical techniques.