A Clinical Pathological And Genetic Study Of Multiple Neurofibromatosis
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| Author | : John C. Carey |
| Publisher | : John Wiley & Sons |
| Total Pages | : 1104 |
| Release | : 2021-01-27 |
| Genre | : Science |
| ISBN | : 1119432677 |
MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth 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 in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth 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. Written by experts, each 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 healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
| Author | : Meena Upadhyaya |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 711 |
| Release | : 2013-01-29 |
| Genre | : Medical |
| ISBN | : 3642328644 |
Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state of knowledge on the molecular genetics, molecular biology and cellular biology of this tumour predisposition syndrome. Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment.
| Author | : Concezio Di Rocco |
| Publisher | : Springer |
| Total Pages | : 0 |
| Release | : 2020-07-14 |
| Genre | : Medical |
| ISBN | : 9783319721675 |
This book documents the state of the art in pediatric neurosurgery with the intention of providing a comprehensive guide to the management of the full range of pediatric neurosurgical disorders that will aid in the delivery of optimal care. Detailed practical instruction, taking into account recent advances, is provided on the neurosurgical treatment of congenital brain malformations, cerebrovascular diseases, head injuries and spinal trauma, infections, functional disorders, congenital and developmental spinal disorders, and brain and spinal tumors. Pearls and pitfalls are highlighted, and attention drawn to the most useful tips and tricks. Information is also included on relevant related topics, including the principles of neuroimaging, the physiological responses of newborns, infants, and children to neurosurgical trauma, preoperative evaluation, anesthesiology and intensive care, and other forms of therapy. The authors are renowned experts in the field, and the text is supported by a wealth of high-quality images. Handbook of Pediatric Neurosurgery will be of value for neurosurgeons of all levels of experience, as well as for pediatricians, neuroradiologists, neuropathologists, and neuro-oncologists.
| Author | : Rosalie E Ferner |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 178 |
| Release | : 2011-09-05 |
| Genre | : Medical |
| ISBN | : 0857296299 |
Neurofibromatoses in Clinical Practice provides a succinct, accessible guide to the neurofibromatoses including diagnosis, management protocols and indications for referral to specialist centers. Neurocutaneous diseases are complex to diagnose and treat and many patients require specialist multidisciplinary management and surveillance. Due to multiple disease manifestations, patients can present to different clinicians without specialist expertise - general practitioners, pediatricians, neurologists, geneticists, surgeons and ophthalmologists. The clinically focused format will enable rapid consultation during clinics, facilitate disease pattern recognition, and indicate care pathways. The clinical quiz highlights common pitfalls in diagnosis and management and a glossary and reference section provide details for access to specialist NF clinics throughout the UK and internationally. Written by experts in the field Neurofibromatoses in Clinical Practice is a succinct and practical guide for consultants in training and practice, general practitioners and specialist nurses.
| Author | : |
| Publisher | : |
| Total Pages | : 532 |
| Release | : 1982-11 |
| Genre | : Cancer |
| ISBN | : |
| Author | : John A. Herring |
| Publisher | : Elsevier Health Sciences |
| Total Pages | : 2662 |
| Release | : 2013-12-02 |
| Genre | : Medical |
| ISBN | : 1455737402 |
Continuing the tradition of excellence that began in 1972, this latest edition of Tachdjian s Pediatric Orthopaedics offers the detailed visual guidance; and unmatched expertise you need to effectively diagnose and treat pediatric musculoskeletal disorders. Extensive updates offer you the latest knowledge on etiology, imaging, differential diagnosis, and non-operative and surgical techniques for a wide range of pediatric orthopaedic conditions. "... delivers the most comprehensive text on this subject." Reviewed by Dr. Neel Kamal on behalf of BACCH Newsletter, March 2015 Access expert guidance on difficult diagnostic and clinical management issues for your most challenging cases. Perfect your technique with the visual guidance of nearly 2,500 full-color illustrations and 60 videos of pediatric surgical procedures, including a number that highlight clinical examination and unusual clinical findings. Produce the best possible outcomes using today's most effective approaches for management of severe spinal deformities, hip impingement, early-onset scoliosis, and other pediatric musculoskeletal conditions. See exactly how to proceed step-by-step with instructional videos demonstrating repair of bilateral dislocated hips, triple arthrodesis for planovalgus foot, patellofemoral ligament reconstruction, elbow arthroscopy, and more. Access the full contents online at Expert Consult.
| Author | : Lewis P. Rowland |
| Publisher | : Lippincott Williams & Wilkins |
| Total Pages | : 1200 |
| Release | : 2010 |
| Genre | : Medical |
| ISBN | : 0781791863 |
The latest neurologic findings are presented here in a crisp, clinical focus that incorporates recent advances in the molecular biology of neurologic disease. This edition will debut at the Neurological Institute of New York's centennial in the fall of 2009.
| Author | : Marta C. Cohen |
| Publisher | : Cambridge University Press |
| Total Pages | : 1225 |
| Release | : 2015-02-05 |
| Genre | : Medical |
| ISBN | : 1316124150 |
Essentials of Surgical Pediatric Pathology is a clear and practical yet comprehensive guide for trainee pediatric pathologists and non-pediatric pathologists. Each chapter corresponds to one of the main subspecialties, such as dermatopathology, head and neck pathology, and system pathology. Practical guidance is given on handling pediatric specimens and the authors highlight the ways in which common conditions present differently in adults and children. Other chapters cover conditions typical of childhood, including soft tissue tumors and blue round cell tumors. The chapters begin with a brief clinical presentation, followed by a clear macroscopical and histological description of the principal pathologies seen in children. Up-to-date genetic and immunohistochemical information is provided, and the book includes hundreds of high-quality color images. Written and edited by leading international experts in the field, this is an essential resource for trainee pediatric pathologists, as well as general pathologists who may encounter pediatric cases.
| Author | : Tony Burns |
| Publisher | : John Wiley & Sons |
| Total Pages | : 4193 |
| Release | : 2008-04-15 |
| Genre | : Medical |
| ISBN | : 1405141042 |
The late Arthur Rook established the Textbook of Dermatologyas the most comprehensive work of reference available to thedermatologist and it enjoys instant name recognition. Eachsubsequent edition has been expanded as the subject has developedand the book remains the ultimate source of clinical informationfor the trainee and practising dermatologist alike. Rook's Textbook of Dermatology covers all aspects of skindisease from basic science through pathology and epidemiology toclinical practice. Long recognized for its unparalleled coverage ofdiagnosis, this clinical classic earned its reputation as adefinitive source of information. New features of this Seventh Edition include: Two new Editors, Neil Cox and Christopher Griffiths, join theteam Every chapter is updated and several are completely rewrittenfrom scratch Completely new chapter on AIDS and the Skin Traditional emphasis on diagnosis preserved More coverage of treatment in each of the disease-specificchapters
| Author | : Frank W. Crowe |
| Publisher | : |
| Total Pages | : 200 |
| Release | : 1956 |
| Genre | : Medical |
| ISBN | : |
