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.?
This second edition of Genetics and Sports expands on topics previously discussed in an attempt to create an integrated and holistic understanding of the field of sports genomics. It is an update on technologies and on the role of genetics in training, performance, injury, and other exercise-related phenotypes. Ethical concerns and the importance of counselling before and after genetic testing are also addressed. It is increasingly important to understand the field of genetics and sports because of the potential to use and misuse information. All exercise scientists, sport and exercise clinicians, athletes, and coaches need to be adequately informed to ensure that genetic information is accurately and properly used. Genetics and Sports is, therefore, highly recommended to all of these groups.
This book offers essential guidance on selecting the most appropriate surgical management option for a variety of spinal conditions, including idiopathic problems, and degenerative disease. While the first part of the book discusses the neuroanatomy and biomechanics of the spine, pain mechanisms, and imaging techniques, the second guides the reader through the diagnostic process and treatment selection for disorders of the different regions of the spine, based on the principles of evidence-based medicine. I.e., it clearly explains why a particular technique should be selected for a specific patient on the basis of the available evidence, which is carefully reviewed. The book identifies potential complications and highlights technical pearls, describing newer surgical techniques and illustrating them with the help of images and accompanying videos. Though primarily intended for neurosurgeons, the book will also be of interest to orthopaedic surgeons, specialists in physical medicine, and pain specialists. ? Dr Erik van de Kelft graduated magna cum laude as a Doctor in Medicine, Surgery, and Obstetrics from the University of Antwerp, Belgium, in 1985. After 2 years of training in general surgery at the General Hospital Stuivenberg, he specialized in neurosurgery under the supervision of Drs. J.J. Martin and P. Selosse at the University Hospital, Antwerp (UZA). His training included periods in Montpellier, France and La Timone Hospital in Marseille, where he focused on pediatric neurosurgery. After successfully completing his training in 1993, Dr. van de Kelft became a permanent staff member in the Neurosurgery Department at the UZA and also a consultant at the Maria Middelares General Hospital in Sint-Niklaas. During this period, he earned a Doctorate in Biomedical Sciences, writing his doctoral thesis on the molecular genetics of malignant brain tumours. Since 1999 he has been a permanent member of the Neurosurgery Department of the Niklaas Hospital, Sint Niklaas, and the OLV (Our Lady) Hospital in Aalst; he is also a neurosurgery consultant at St. Jozef Hospital, Bornem. Dr. van de Kelft is especially known for his expertise in back surgery and in the surgical treatment of facial pain. He is the author of 50 articles in peer-reviewed journals and a regular speaker at international conferences.
This book provides a comprehensive and up-to-date review of rare diseases and syndromes of the spinal cord, collected over the past forty years from all the worlds literature. Each chapter in this volume is organized in the same easy-to-follow format, comprising definitions, incidence, etiology, clinical presentation, diagnosis, management, prognosis, and references. This book is aimed at medical students, residents, fellows, and junior attendings in spinal cord medicine, physical medicine, neurosurgery, orthopedics, oncology, emergency medicine, infectious disease, neurology, genetics, vascular surgery, and endocrinology, along with the numerous allied fields of physical therapy, nursing, occupational therapy, and biomedical researchers. Born in Manzala, Egypt in 1920, Ibrahim M. Eltorai gained his medical degree in 1944, at Cairo University affiliated with London University. He completed his residency in General and Pediatric Surgery and Anesthesia and fellowship in Neurosurgery at Cairo University Hospitals. He then worked in Europe as an Assistant Surgeon in Cardiovascular Surgery before returning to Cairo as an Associate Professor, then professor of Surgery. He then moved to the US, where he held several positions at Veterans Affairs Healthcare System, Long Beach, California, including Chief of the Spinal Cord Injury Service.