Osteogenesis Imperfecta: From Diagnosis to Treatment

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Series: Orthopedic Research and Therapy
BISAC: MED085120; MED107000
DOI: https://doi.org/10.52305/BNDY1848

Osteogenesis Imperfecta should be recognized as one of the most studied skeletal systemic dysplasias. Considering recent improvements of technology, the diagnostic and therapeutic strategies for this pathology might evolve in the future.

This volume presents a collection of chapters covering a wide range of problems related to this condition. Three chapters of the book are dedicated to the modern and revised data on the molecular genetic aspects of the classification and pathogenesis of osteogenesis imperfecta. Detailed descriptions of somatic issues are presented for all body systems. Principles and results of bisphosphonate therapy and other methods of medical management are described by leading Russian specialists in this field. The most significant experience in Russia of medical treatment and physical therapy will arouse the interest of readers.

The surgical part of the book is presented not only with a description of principles, methods and results of surgical interventions on the limbs, but also on the axial skeleton. Furthermore, two chapters are dedicated to the anesthetic aspects of orthopedic surgery in children with osteogenesis imperfecta. The substantiation is given to the methods of combined anesthesia and pain management during the surgery, as well as in the immediate postoperative period, taking into account comorbidities.

Telescopic rodding of long bones is a recognized gold standard in children with the disease, but there are multiple disadvantages of this approach. In the book we report new methods, combined techniques and technical tricks allowing to overcome inconveniencies and flaws of common steel telescopic intramedullary rods.

At the end of the book, we discuss outcomes of complex management and the issue of patients’ quality of life after treatment performed by a multidisciplinary team. The high level of quality of life of patients is the prime and principle goal of our team.

The data presented in this book are based, on one hand, on the personal, practical, and scientific experience of each author, as well as the entire team of authors’ works in collaboration with each other, coordinating their decisions and interventions with colleagues, thus ensuring continuity in treatment of children and adults suffering from Osteogenesis Imperfecta.

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Table of Contents

Foreword

Acknowledgements

Introduction

Chapter 1. Definition, Pathogenesis, and Genetic Classification of Osteogenesis Imperfecta
(Tatiana Markova, Tatiana Nagornova, Elena Merkurieva, and Ekaterina Zakharova – Research Centre for Medical Genetics, Moscow, Russia)

Chapter 2. Clinical Classification of Osteogenesis Imperfecta. Somatic Issues in Osteogenesis Imperfecta Children. Medical Treatment for Children with Osteogenesis Imperfecta
(Nato Vashakmadze, Natalia Zhurkova, Leyla Namazova-Baranova, Anastasia Rykunova, and Tatiana Ryabykh – Pirogov Russian National Research Medical University, Moscow, Russia, et al.)

Chapter 3. The Current State of Molecular Genetic Diagnostics in Various Forms of Osteogenesis Imperfecta
(Sergey Khalchitsky, Marina Sogoyan, Alina Li-Zablockaya, Lavrentii Danilov, Vladislav Muldiyarov, Dmitry Buklaev, and Sergey Vissarionov – National Turner Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery, Saint-Petersburg, Russia)

Chapter 4. Physical Therapy Management in Osteogenesis Imperfecta
(Nadezhda Epishina – Fragile People Charitable Foundation; St. Petersburg, Russia)

Chapter 5. Orthotics and Assistive Devices for Osteogenesis Imperfecta
(Dmitry Okhapkin – “Doctor Okhapkin’s OrthoSpace”, Moscow, Russia)

Chapter 6. Anesthetic Management in Osteogenesis Imperfecta
(Vadim Evreinov – National Ilizarov Medical Research Center for Traumatology and Orthopedics, Kurgan, Russia)

Chapter 7. Management of Pain in Patients with Osteogenesis Imperfecta During Operations on the Lower Limb
(Vadim Evreinov and Elena Raznoglyadova – National Ilizarov Medical Research Center for Traumatology and Orthopedics, Kurgan, Russia)

Chapter 8. Osteogenesis Imperfecta: The Role and Place of Orthopedic Surgery of the Lower Extremities
(Dmitry Popkov, Eduard Mingazov, Pierre Journeau, Alexander Gubin, Nikita Gvozdev, and Arnold Popkov – Ilizarov National Medical Research Center for Traumatology and Orthopedics, Kurgan, Russia, et al.)

Chapter 9. Sliding Transphyseal Flexible Intramedullary Nailing in Children with Osteogenesis Imperfecta
(Dmitry Popkov, Eduard Mingazov, Natalia Kononovich, and Arnold Popkov – Ilizarov National Medical Research Center for Traumatology and Orthopedics, Kurgan, Russia)

Chapter 10. Surgical Correction of Limb Deformities in Children with Osteogenesis Imperfecta: Experience of Turner Center
(Dmitry Buklaev and Sergey Vissarionov – National Turner Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery, Saint-Petersburg, Russia)

Chapter 11. Use of Titanium Telescopic Rods in Osteogenesis Imperfecta Patients. Combined Technique and 3D Gait Analysis in OI Children
(Dmitry Popkov, Tamara Dolganova, Eduard Mingazov, Pierre Journeau, Dmitry Dolganov, Nikita Gvozdev, and Arnold Popkov – Ilizarov National Medical Center for Traumatology and Orthopaedics, Kurgan, Russian Federation, et al.)

Chapter 12. Spinal Pathology in Children and Adults with Osteogenesis Imperfecta
(Sergey Ryabykh, Elena Schurova, Polina Ochirova, Olga Sergeenko, Tatiana Ryabykh, and Oleg Chelpachenko – National Ilizarov Medical Research Centre for Traumatology and Ortopaedics, Kurgan, Russia, et al.)

Chapter 13. Surgical Correction of Spinal Pathology in Patients with Osteogenesis Imperfecta
(Sergey Ryabykh, Elena Schurova, Polina Ochirova, Olga Sergeenko, and Dmitry Savin – National Ilizarov Medical Research Centre for Traumatology and Orthopaedics, Kurgan, Russia)

Chapter 14. Quality of Life and Outcomes of Reconstructive Surgery in Children with Osteogenesis Imperfecta
(Dmitry Popkov, Eduard Mingazov, Fedor Hoffman, Anatoly Korkin, Nikita Gvozdev, and Siniša Ducic – Ilizarov National Medical Research Center for Traumatology and Orthopedics, Kurgan, Russia, et al.)

Conclusion

About the Editors

Editor’s Orchid ID

Dmitry A. Popkov – https://orcid.org/0000-0002-8996-867X
Sergey Ryabykh – https://orcid.org/0000-0002-8293-0521

Additional information

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