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The Genetics And Development Of Scoliosis
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Book Synopsis The Genetics and Development of Scoliosis by : Kenro Kusumi
Download or read book The Genetics and Development of Scoliosis written by Kenro Kusumi and published by Springer Science & Business Media. This book was released on 2009-12-15 with total page 227 pages. Available in PDF, EPUB and Kindle. Book excerpt: Developmental genetic studies of the spine and linkage and family-based association studies have led to recent advances in understanding the genetic etiology of idiopathic, neuromuscular, and congenital forms of scoliosis. The book is written by leaders in genetic and developmental research on scoliosis and developmental studies of the spine.
Book Synopsis Pathogenesis of Idiopathic Scoliosis by : Masafumi Machida
Download or read book Pathogenesis of Idiopathic Scoliosis written by Masafumi Machida and published by Springer. This book was released on 2018-02-23 with total page 193 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides comprehensive coverage of current topics in idiopathic scoliosis (IS). A three-dimensional deformity of the spine, the condition is characterized by lateral curvature combined with vertebral rotation. The primary lesion, however, lies in the median sagittal plane, taking the form of a lordosis. Although the clinical manifestations of scoliosis have been well documented, its cause and pathogenesis have not yet been determined. Research into what causes IS has focused on the structural elements of the spine, spinal musculature, collagenous structures, the endocrine system, the central nervous system, and genetics. Results of these studies have brought about a new perception of IS epiphenomena, but the main cause of IS remains unknown. Recently, several investigators have produced new hypotheses regarding the cause of IS using the developing techniques of genetics, biochemistry, and neurology. This book is a review of the various causative factors thus far proposed for IS and an introduction to the directions in which research is heading to determine the primary cause of IS.
Book Synopsis Molecular Genetics of Pediatric Orthopaedic Disorders by : Carol A. Wise
Download or read book Molecular Genetics of Pediatric Orthopaedic Disorders written by Carol A. Wise and published by Springer. This book was released on 2015-03-04 with total page 173 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the past two decades we have seen a surge forward in understanding the genetics and biochemistry underlying many pediatric orthopaedic disorders. A few projects have even progressed into the realm of clinical trials that are primarily aimed at controlling progressive disease. Meanwhile, genomic technology development has outpaced expectations and is enabling gene discovery for disorders that were previously intractable with traditional genetic methods. Included in this latter category are common disorders that display multigenic inheritance, sporadic disorders, and very rare conditions that are difficult to ascertain. Simultaneously, the study of pediatric orthopaedic disorders has been continuously refined and updated, highlighting a number of likely genetic conditions that are as yet unsolved. Molecular Genetics of Pediatric Orthopaedic Disorders updates researchers and clinicians of new developments of pediatric orthopaedic genetics. The chapters inform the audience on the revolution in new genomic methods and the impact this is having on potential study designs and the potential to discover genetic causes of many unsolved orthopaedic conditions. Recent examples have been included of pediatric orthopaedic conditions, both rare and common, that are being solved with these new methods. The book also educates pediatric orthopedic clinicians and geneticists on our understanding of the biology of “classic” genetic diseases that were derived from prior genetic studies. Chapters include biobanks and strategies for studying very rare disorders, genes and pathways causing primordial dwarfism, and notch signaling in congenital scoliosis, and more.
Book Synopsis Adolescent Idiopathic Scoliosis by : Peter O. Newton
Download or read book Adolescent Idiopathic Scoliosis written by Peter O. Newton and published by AAOS. This book was released on 2004 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Covers the anatomy, etiology, and natural history of scoliosis - from patient evaluation and an algorithm for treatment to pulmonary function after surgical treatment and the use of instruments to evaluate surgical treatment. This new monograph focuses on the most common form of scoliosis occurring otherwise normal adolescents, affecting spinal alignment, growth, and function.
Book Synopsis Disordered Vertebral and Rib Morphology in Pudgy Mice by : Frederic Shapiro
Download or read book Disordered Vertebral and Rib Morphology in Pudgy Mice written by Frederic Shapiro and published by Springer. This book was released on 2016-09-30 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents results obtained from the whole mount preparations, radiological, and histological studies of 60 pu/pu and pu/+ mice from late embryo until 3 months of age. Most mice were in the embryo to 6 week age group where vertebral developmental changes are most marked. Although vertebral abnormalities have been identified as due to mutations in the delta-like 3 (Dll3) gene, it is evident that each mouse has differing structural abnormalities. The disorder is analogous to human congenital scoliosis, a common variant of which is spondylocostal dysplasia. The histological studies presented in this book include plastic embedded sections which allow for high level resolution not only of vertebrae, intervertebral discs, and ribs but also of associated spinal cord, nerve roots and ganglia. In addition an overview of embryo and neonatal development in mouse, chick and human vertebrae is provided to better assess how and where deviant pathoanatomy occurs. The book discusses the possible variables involved in creating final deformity beyond the gene abnormality itself.
Book Synopsis Congenital Scoliosis by : Elio Ascani
Download or read book Congenital Scoliosis written by Elio Ascani and published by . This book was released on 1988 with total page 170 pages. Available in PDF, EPUB and Kindle. Book excerpt: The third volume of Progress in Spinal Pathology gathers a selection of papers presented at the 7th National Meeting of the Italian Scoliosis Research Group on Congenital Scoliosis. Up until 20 years ago congenital scoliosis was considered to be a practically benign disease characterized by a slight progression of spinal deformity and its prognosis was consequently good. This statement has recently turned out to be too optimistic. Deeper studies on spinal pathology have proved the existence of highly progressive forms of congenital scoliosis often associated with other diseases affecting the urinary and cardiac systems and above all the spinal cord. As a result a careful evaluation of the patient is necessary before any type of surgical treatment may be initiated, in order to reduce the risk of irreversible lesions to the spinal cord to a minimum. This volume encompasses all clinical and diagnostic aspects of the subject including the latest achievements and techniques of treatment. Furthermore it is completed by eminent studies on subjects of great interest such as imperfect osteogenesis, cervical and cranial abnormalities in von Recklinghausen's disease, experimental comparative analysis of different types of instrumentation used in the surgical treatment of vertebral fractures, rib resection following vertebral arthrodesis for cases of thoracic idiopathic scoliosis, and anesthesia in vertebral surgery for spinal muscle atrophy.
Book Synopsis Exploring Adult Scoliosis by : Tony Nalda
Download or read book Exploring Adult Scoliosis written by Tony Nalda and published by . This book was released on 2021-11 with total page 214 pages. Available in PDF, EPUB and Kindle. Book excerpt: Being an adult with scoliosis can be lonely, painful, and frustrating. I know this because I have worked with adults from all over the world who came to me with similar complaints. In this book, we explore what adult scoliosis is, how it differs from adolescent scoliosis, treatment options available for adults with scoliosis, how these treatment options address pain, and the pros and cons of the different scoliosis treatment opportunities.
Download or read book Scoliosis Hope written by Dr Tony Nalda and published by . This book was released on 2019-05-15 with total page 216 pages. Available in PDF, EPUB and Kindle. Book excerpt: Traditional scoliosis treatments prescribe years of "watching and waiting" instead of decisive action. The chiropractic-centered approach to treating scoliosis is proactive, effective and hopeful. Surgery can often times be avoided. Patients can live rich, full, and active lives. This book shows you how it is all possible.
Book Synopsis The Scoliosis Handbook of Safe and Effective Exercises Pre and Post Surgery by : Caroline Freedman
Download or read book The Scoliosis Handbook of Safe and Effective Exercises Pre and Post Surgery written by Caroline Freedman and published by . This book was released on 2019 with total page 140 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author :Society on Scoliosis Orthopaedic and Rehabilitation Treatment Publisher :IOS Press ISBN 13 :1586038427 Total Pages :440 pages Book Rating :4.5/5 (86 download)
Book Synopsis The Conservative Scoliosis Treatment by : Society on Scoliosis Orthopaedic and Rehabilitation Treatment
Download or read book The Conservative Scoliosis Treatment written by Society on Scoliosis Orthopaedic and Rehabilitation Treatment and published by IOS Press. This book was released on 2008 with total page 440 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the first of a series of Instructional Course Lectures (ICL) books of the International Society On Scoliosis Orthopaedic and Rehabilitation Treatment (SOSORT). In the contents of this book the reader can find the SOSORT statutes and become familiar with the aims of the creation of this society. This will hopefully be the initiation of a series of books on conservative scoliosis treatment and a valuable library for SOSORT. The philosophy of the commencement of such ICL book series is the achievement of an ultimate aim, the improvement of early detection and non operative treatment of the patient care pathway for scoliosis. For this endeavor, a number of eminent clinicians and scientists around the world, who are devoted and high-quality students of scoliosis, are involved with and contributing to their fabulous work. There is no doubt that this book is not able to cover every aspect of the issue. However, the future volumes of this series of books will continuously complete the latest relevant knowledge. In this volume there are chapters reporting on various aspects of the current state of the following topics: IS aetiology, recent trends on scoliosis research, genetics, prevention - school screening, various methods of physiotherapy, various types of braces, the inclusion criteria for conservative treatment, together with the SOSORT guidelines for conservative treatment, clinical evaluation and classification, study of the surface after brace application and outcomes for each brace.
Book Synopsis Early Onset Scoliosis by : Colin Nnadi
Download or read book Early Onset Scoliosis written by Colin Nnadi and published by Thieme. This book was released on 2015-08-05 with total page 726 pages. Available in PDF, EPUB and Kindle. Book excerpt: A comprehensive guide to modern treatment in a complex and evolving specialty FIVE STARS from Doody's Star Ratings™ Covering the spectrum of spinal deformity that occurs between birth and 10 years, early onset scoliosis (EOS) is an evolving specialty that faces unique challenges, especially in controlling the progression of the condition while allowing the growth of the developing spine, lungs and thorax. This important book was inspired by the inaugural early onset scoliosis meeting of spine surgeons and other medical professionals in Christ Church, Oxford, UK, in September 2011. It provides a complete picture of the field today, with topics ranging from spinal development and genetics to advances in medical management to breakthrough surgical techniques that offer promising new options for young patients. Special Features Provides practical, evidence-based solutions to managing the full range of congenital, idiopathic, neuromuscular and syndromic conditions that present in early onset scoliosis Describes pioneering surgical procedures, such as non-invasive, magnetically controlled growing rod systems that reduce the number of repetitive surgeries and hospitalizations Explores such complex topics as surgical strategies for sitting comfort and features of optimal heelchair seating Details treatments and outcome measures in diverse, multi-system disorders, such as early onset neuromuscular scoliosis Highlights perioperative care and the vital role of physiotherapy in children with EOS Introduces an EOS questionnaire that establishes validated, patient-reported data for outcome assessment Recognizing the importance of the multidisciplinary team approach in effective management, Early Onset Scoliosis offers the valuable international perspective of many leaders in the field. It is essential for orthopedic and pediatric surgeons, residents and trainees, who will use the book to develop a clear understanding of what EOS is, how it is best treated, and the principles that underlie effective clinical decision-making in these complex cases.
Book Synopsis Genomic Analysis of Human Spinal Deformity and Characterization of a Zebrafish Disease Model by : Jillian Gwen Buchan
Download or read book Genomic Analysis of Human Spinal Deformity and Characterization of a Zebrafish Disease Model written by Jillian Gwen Buchan and published by . This book was released on 2014 with total page 142 pages. Available in PDF, EPUB and Kindle. Book excerpt: Scoliosis is characterized by a lateral curvature of the spine that requires long-term bracing and invasive spinal surgery in cases with progressive deformity. Some individuals develop scoliosis secondary to congenital malformations or syndromic disorders, but most scoliosis is considered idiopathic and has no known cause. Adolescent idiopathic scoliosis (AIS) onsets in late childhood and causes spinal deformity in approximately 3% of the pediatric population. Despite a strong genetic basis, genetic risk factors for AIS are unknown and the pathogenesis remains poorly understood, which has been further hindered by the lack of a relevant animal model. Therefore, we used multiple approaches to better understand the genetic and molecular etiology of AIS using human and animal-based studies. First, we performed copy number variation analysis on 143 patients with isolated scoliosis using the Affymetrix Genome-wide Human SNP Array 6.0. We identified a duplication of chromosome 1q21.1 in 2.1% (N=3/143) of AIS patients, which was enriched compared to 0.09% (N=1/1079) of controls (P=0.0057) and 0.07% (N=6/8329) of published controls (P=0.0004). Other notable findings include trisomy X, which was identified in 1.8% (N=2/114) of female AIS patients, and rearrangements of chromosome 15q11.2 and 16p11.2 that may be relevant to scoliosis susceptibility. We also report rare CNVs that will be of use to future studies investigating candidate genes for AIS. Second, we performed a genome-wide rare variant burden analysis using exome sequence data and identified FBN1 (fibrillin-1) as the most significantly associated gene with AIS. Mutations in FBN1 are most frequently association with Marfan syndrome, a syndromic condition that causes scoliosis in 60% of patients. Based on these results, FBN1 and a related gene, FBN2 (fibrillin-2), were sequenced in a total of 852 AIS cases and 669 controls. In individuals of European ancestry, rare variants in FBN1 and FBN2 were enriched in severely affected AIS cases (7.6%) compared to in-house controls (2.4%) (OR=3.5, P=5.46 x 10−4) and Exome Sequencing Project controls (2.3%) (OR=3.5, P=1.48 x 10−6). Scoliosis severity in AIS cases was associated with FBN1 and FBN2 rare variants (P=0.0012) and replicated in an independent Han Chinese cohort (P=0.0376), suggesting that rare variants have utility as predictors of curve progression. Clinical evaluations revealed that the majority of AIS cases with rare FBN1 variants do not meet diagnostic criteria for Marfan syndrome, though variants are associated with tall stature (P=0.0035) and upregulation of the TGF-[beta] pathway. Finally, we characterized a recessive zebrafish mutant, called skolios, which develops a spinal deformity phenotype that parallels many features of human AIS, including an isolated lateral curvature of the spine that arises independent of congenital vertebral malformations. Skolios was identified in a mutagenesis screen and previously mapped to a 2.7 Mb region on chromosome 17. Because skolios may be an informative model of scoliosis, we sought to identify its genetic basis. We performed low coverage whole genome sequencing on a skolios mutant and identified a single nonsense mutation in the mapped region, which caused a premature stop in kinesin family member 6 (kif6), a poorly characterized kinesin of unknown function. To determine if the loss of kif6 is responsible for the skolios phenotype, we used TALENs to create additional mutant alleles. We isolated three new TALEN-induced mutations that caused frameshift mutations in kif6. All zebrafish homozygous or compound heterozygous for kif6 frameshift mutations developed body axis curvature that was indistinguishable from skolios mutants, verifying kif6 as the causative gene. Preliminary investigation into the mechanism of spinal deformity revealed no association with vertebral malformations or cilia defects in skolios mutants. Overall, these results identify important genetic risk factors for AIS, including clinically relevant copy number variants and rare genetic variation in FBN1 and FBN2. Moreover, we have identified an animal model with scoliosis and demonstrated a novel role for kif6 in the developing spine. These findings have significant impact on our understanding of the genetic basis of AIS and reveal new strategies to identify and treat AIS.
Book Synopsis Research Into Spinal Deformities 2 by : I. A. F. Stokes
Download or read book Research Into Spinal Deformities 2 written by I. A. F. Stokes and published by IOS Press. This book was released on 1999 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diagnosis and Treatment of Spine Deformities in Children at Specialized Centre -- Session 5: Rationalized Design of Individualized Treatment -- Biomechanical Simulations for Planning of Scoliosis Surgery -- Clinical Assessment of AIS -- Determination of Fixation Level of Osteosynthesis System with Knowledge Base -- 3D" Brace Treatment: "3D" Immediate Effect On Thoracic. Thoracolumbar and Lumbar Scoliotic Curves -- Treatment of Thoracolumbar and Lumbar Idiopathic Scoliotic Curves with the Progressive Action Short Brace (P.A.S.B.)Analysis of Results -- 3D Correction of Trunk Deformity in Patients with Idiopathic Scoliosis Using Cheneau Brace -- Social Effects of Boston Bracing -- Appendix. Clinical Application of 3-D Evaluation of Scoliosis -- Pre-IRSSD meeting Workshops held at Sainte-Justine Hospital, Montreal, Canada, 27 June, 1998. -- Workshop 1: Biomechanical Modelling of Scoliosis: What are the Priorities? -- Workshop 2: Usefulness of Computer Assisted Measurements During Surgery: Should we Continue? -- Workshop 3: Imaging Techniques, which Way to Go: X-Ray, CT Scans, MRI, Surface Topography, Etc.? -- Workshop 4: Aetiology and pattern of spinal deformities: should we continue to study biomechanical and 3D factors? -- Author Index
Book Synopsis Genetic Diseases of the Eye by : Elias I. Traboulsi
Download or read book Genetic Diseases of the Eye written by Elias I. Traboulsi and published by OUP USA. This book was released on 2012-01-12 with total page 940 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare diseases. The chapters are heavily illustrated and provide a good Atlas for the practicing ophthalmologist or geneticist.
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
Book Synopsis Pathology of Bone and Joint Disorders Print and Online Bundle by : Edward F. McCarthy
Download or read book Pathology of Bone and Joint Disorders Print and Online Bundle written by Edward F. McCarthy and published by Cambridge University Press. This book was released on 2014-11-20 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fully updated new edition covering all aspects of bone and joint diseases in one easily readable volume. Color illustrations throughout.
Book Synopsis Spine Surgery Basics by : Vikas V. Patel
Download or read book Spine Surgery Basics written by Vikas V. Patel and published by Springer Science & Business Media. This book was released on 2013-09-11 with total page 565 pages. Available in PDF, EPUB and Kindle. Book excerpt: Spine surgery has increasingly become a surgical field of its own, with a distinct body of knowledge. This easy-to-use book, written by acknowledged experts, is designed to meet the practical needs of the novice and the busy resident by providing essential information on spine pathology, diagnostic evaluation, surgical procedures, and other treatments. After an opening general section, degenerative spinal disease, pediatric spine conditions, spine trauma, spine tumors, infections, inflammatory disorders, and metabolic conditions are all discussed in more depth. Alongside description and evaluation of surgical options, important background information is included on pathology, presentation, diagnosis, and nonsurgical treatments. Potential complications of surgery are also carefully considered. Spine Surgery Basics will be an invaluable aid for all who are embarking on a career in spinal surgery or require a ready reference that can be consulted during everyday practice.
