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Author : Francisco Gondim
Publisher :
ISBN 13 : 9780979679117
Total Pages : 171 pages
Book Rating : 4.6/5 (791 download)
Download or read book The Patients' Guide to Charcot-Marie-Tooth Disorders written by Francisco Gondim and published by . This book was released on 2007-01-01 with total page 171 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Frederick Earlstein
Publisher : Nrb Publishing
ISBN 13 : 9781941070468
Total Pages : 116 pages
Book Rating : 4.0/5 (74 download)
Download or read book Charcot Marie Tooth Disease: Diagnosis, Symptoms, Treatment, Causes, Doctors, Nervous Disorders, Prognosis, Research, History, Surgery, and More! F written by Frederick Earlstein and published by Nrb Publishing. This book was released on 2016-01-23 with total page 116 pages. Available in PDF, EPUB and Kindle. Book excerpt: Charcot Marie Tooth disease is one of the most common neurological disorders in the world, affecting about 1 in 2,500 people. For as common as this disease is, it unfortunately does not have a cure. In fact, it is only within the past decade or so that the most important discoveries related to this condition have been made. There is still a great deal to be learned about this disease and in regard to treatment options. If you or a loved one has Charcot Marie Tooth disease, the best thing you can do is arm yourself with as much knowledge about the disorder as possible. In this book you will receive a wealth of knowledge about this horrible condition including its history, signs and symptoms, causes, treatment options, and more. You will also receive valuable information about current research being conducted and background on other types of nervous disorders. While you may not be able to cure Charcot Marie Tooth disease, you can use this book as an educational tool to better understand it. Charcot Marie Tooth Disease diagnosis, symptoms, treatment, causes, doctors, nervous disorders, prognosis, research, history, surgery, and more!
Author : Dawn Johnson
Publisher : Suburbanbuzz.com
ISBN 13 : 9781736082003
Total Pages : 196 pages
Book Rating : 4.0/5 (82 download)
Download or read book Living with CMT written by Dawn Johnson and published by Suburbanbuzz.com. This book was released on 2020-10-29 with total page 196 pages. Available in PDF, EPUB and Kindle. Book excerpt: Welcome to the world of Charcot Marie Tooth (CMT) disease, a rare, progressive and hereditary neurological condition. Author Dawn Johnson takes readers through the physical challenges-the toll on the body, passing the disease on to her son, numerous surgeries, and ongoing treatments. She addresses the emotional toll as well, weighing in on the societal issues of bullying, lack of CMT awareness, giving back and paying it forward. Most of all, Dawn's spiritual journey is inspirational. As a wife, mother, daughter, co-worker and friend, she shares a raw and courageous view of coping, while trusting God's plan for her life.
Author : J. C. Segen
Publisher : Infobase Publishing
ISBN 13 : 0816046514
Total Pages : 433 pages
Book Rating : 4.8/5 (16 download)
Download or read book The Patient's Guide to Medical Tests written by J. C. Segen and published by Infobase Publishing. This book was released on 2002 with total page 433 pages. Available in PDF, EPUB and Kindle. Book excerpt: Provides a basic understanding of the diagnostic procedures and tools used by physicians, hospitals, and commercial laboratories. Each test entry includes a description of the test, patient preparation required, a description of the procedure itself, the reference range, what abnormal values may signify, and the approximate cost of the test.
Author : James N. Parker
Publisher :
ISBN 13 :
Total Pages : 168 pages
Book Rating : 4.3/5 (91 download)
Download or read book The Official Patient's Sourcebook on Charcot-Marie-Tooth Disorder written by James N. Parker and published by . This book was released on 2002 with total page 168 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book has been created for patients who have decided to make education and research an integral part of the treatment process. Although it also gives information useful to doctors, caregivers and other health professionals, it tells patients where and how to look for information covering virtually all topics related to charcot-marie-tooth disorder (also Charcot-Marie-Tooth Disease (Variant); Charcot-Marie-Tooth-Roussy-Levy Disease; Hereditary Areflexic Dystasia; Hereditary Motor and Sensory Neuropathy; Hereditary motor and sensory neu-ropathy; Hereditary Motor Sensory Neuropathy), from the essentials to the most advanced areas of research. The title of this book includes the word official. This reflects the fact that the sourcebook draws from public, academic, government, and peer-reviewed research. Selected readings from various agencies are reproduced to give you some of the latest official information available to date on charcot-marie-tooth disorder. Given patients' increasing sophistication in using the Internet, abundant references to reliable Internet-based resources are provided throughout this sourcebook. Where possible, guidance is provided on how to obtain free-of-charge, primary research results as well as more detailed information via the Internet. E-book and electronic versions of this sourcebook are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). Hard-copy users of this sourcebook can type cited Web addresses directly into their browsers to obtain access to the corresponding sites. In addition to extensive references accessible via the Internet, chapters include glossaries of technical or uncommon terms.
Author : Nenad Blau
Publisher : Springer Nature
ISBN 13 : 3030677273
Total Pages : 1514 pages
Book Rating : 4.0/5 (36 download)
Download or read book Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer Nature. This book was released on 2022-02-21 with total page 1514 pages. Available in PDF, EPUB and Kindle. Book excerpt: This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com
Author : Charlotte E. Thompson
Publisher : Oxford University Press, USA
ISBN 13 : 0195128435
Total Pages : 288 pages
Book Rating : 4.1/5 (951 download)
Download or read book Raising a Child with a Neuromuscular Disorder written by Charlotte E. Thompson and published by Oxford University Press, USA. This book was released on 1999 with total page 288 pages. Available in PDF, EPUB and Kindle. Book excerpt: A compassionate and comprehensive guide for parents and others who care for children and teenagers with neuromuscular disorders. A large appendix offers resources state by state and country by country.
Author : Jean-Michel Vallat
Publisher : John Wiley & Sons
ISBN 13 : 1118618416
Total Pages : 318 pages
Book Rating : 4.1/5 (186 download)
Download or read book Peripheral Nerve Disorders written by Jean-Michel Vallat and published by John Wiley & Sons. This book was released on 2014-08-01 with total page 318 pages. Available in PDF, EPUB and Kindle. Book excerpt: Peripheral Nerve Disorders: Pathology and Genetics is a definitive, clinically-oriented guide to the pathology of peripheral nerve disorders. These commonly seen neurological challenges have many causes and accurate diagnosis is often necessary via pathological analysis. New techniques exploiting molecular biological knowledge have opened up new vistas to understanding the pathogenesis of these disorders, and hence their effective management. This new title takes a disease-oriented approach to understanding the pathology of these conditions. It combines classical and contemporary techniques to enable practitioners in neurology and neuropathology to better understanding of the disease processes underlying patients’ presentations and to formulate appropriate management plans. Peripheral Nerve Disorders: Pathology and Genetics is a valuable resource for neurologists, neuropathologists, pathologists, neurobiologists and geneticists.
Author : Linda D Crabtree
Publisher : Linda D. Crabtree
ISBN 13 : 9781775058205
Total Pages : pages
Book Rating : 4.0/5 (582 download)
Download or read book Cmt and Me written by Linda D Crabtree and published by Linda D. Crabtree. This book was released on 2017-12-20 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: When Linda Crabtree was growing up in a small Canadian city in the early '40s, the future for a little kid with a disability didn't look too promising. Seventy-five years later she writes about her forays into education, journalism, running a charity, publishing, art, antiques, designing a house and her travels. The emotional undercurrents of love, the question of children, marriage, alcoholism, divorce, marriage again and great loss are explored. And then there's her love of dogs. It has been a roller-coaster of a ride and this passionate, entrepreneurial woman has kept plugging away all the while dealing with an inherited neuromuscular condition called Charcot-Marie-Tooth (CMT) disease, named after three doctors, that has slowly progressed over the years to take away her ability to walk and is now robbing her of the use of her hands. The recipient of 28 awards, medals and honours, Linda is proud to be a Member of the Order of Canada and the Order of Ontario and has been in Canada's Who's Who for the past 20 years. Find out why. Excerpt: " ...With $15 for paper and envelopes and a few postage stamps, I typed letters to editors of all of the newspapers in Canada, telling them that I had a rare disease with a strange name, knew no one else with it, and was looking for information and people to share our concerns and triumphs. My letters were published in newspapers across the country and within a few weeks I had received so many letters from people also diagnosed with CMT, or suspecting they had it, and wanting information that I knew I was onto something. My curiosity was piqued. How many people with CMT were out there? Now I had a real challenge. How many could I find? I went back to the library and photocopied all the addresses for the newspapers in the United States. Those letters went out and, before I knew it, I had more than 350 replies from people all wanting to know more. Trouble was, I didn't have more to give them. We'd have to learn from each other. And there was no way I could type 350 individual letters in reply. I had to figure out a way to answer them all at the same time. Personal computers were a rare commodity at that time. The solution to my dilemma turned out to be a mass mailing and in the summer of 1984 the CMT Newsletter was born. It wasn't much - only eight pages, the columns typed, cut out and pasted down and then everything photocopied - but it was something."
Author : National Organization for Rare Disorders
Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780781730631
Total Pages : 982 pages
Book Rating : 4.7/5 (36 download)
Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Author : Satish V. Khadilkar
Publisher : Springer
ISBN 13 : 9811053618
Total Pages : 534 pages
Book Rating : 4.8/5 (11 download)
Download or read book Neuromuscular Disorders written by Satish V. Khadilkar and published by Springer. This book was released on 2017-12-28 with total page 534 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a concise overview of the diagnosis and therapy of a wide variety of neuromuscular disorders, in tabulated form and with illustrative cases. Treating neuromuscular disorders calls for a sound, step-by-step clinical approach based on differential diagnosis and laboratory investigations. Yet to date, there has been no single, compact book that offers all the relevant information related to the management of these disorders. This book fills that gap, presenting the state of the art in the field and addressing practical problems together with their solutions. Each chapter covers disorder characteristics, clinical differentiating points, relevant investigations and their interpretation, available genetic testing, best management approaches and counselling. Illustrative cases provide valuable insights, while extensive tables and illustrations mean that information can be rapidly found.
Author : Robin L. Bennett
Publisher : John Wiley & Sons
ISBN 13 : 0471459143
Total Pages : 271 pages
Book Rating : 4.4/5 (714 download)
Download or read book The Practical Guide to the Genetic Family History written by Robin L. Bennett and published by John Wiley & Sons. This book was released on 2004-04-07 with total page 271 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Practical Guide to The Genetic Family History Robin L. Bennett Compiling the most recent genetic developments in medical specialties, The Practical Guide to the Genetic Family History is a valuable resource which outlines the proper methods for taking and recording a patient's family medical history, allowing primary care physicians to be more efficient in diagnosing conditions with potential genetic components. With genetic screening forms, an overview of directed questions, pedigree nomenclature, and outlining common approaches used, genetic counselor Robin L. Bennett provides readers with the basic foundation in human genetics necessary to recognize inherited disorders and familial disease susceptibility in patients. As the only guide which is geared for the physician in this field, The Practical Guide to the Genetic Family History includes remarks by renowned medical geneticist Arno Motulsky, as well as information on structuring an accurate pedigree and its components, including: * Using a pedigree to identify individuals with an increased susceptibility to cancer * Family history, adoption, and their challenges * The connection between the pedigree and assisted reproductive technologies * Making referrals for genetic services * Neurological and neuromuscular conditions * Tables covering hearing loss, mental retardation, dementia, and seizures * Five case studies of genetics in practice An essential reference for genetics clinics, medical geneticists, and counselors, The Practical Guide to the Genetic Family History is also an invaluable aid for both primary care and specialist physicians who need an up-to-date reference that emphasizes both the science and art of modern clinical genetics.
Author : Sattar Alshryda
Publisher : Springer
ISBN 13 : 3030120031
Total Pages : 888 pages
Book Rating : 4.0/5 (31 download)
Download or read book The Pediatric and Adolescent Hip written by Sattar Alshryda and published by Springer. This book was released on 2019-06-28 with total page 888 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides an evidence-based approach to treating the increasing number of children and adolescents presenting with hip disorders. It integrates the most up-to-date data with essential knowledge, gleaned from decades of previous research and practice. Each chapter provides a comprehensive text which integrates relevant pathophysiology, clinical assessment, and imaging, with an evidence-based approach to non-operative and operative management, authored by globally recognized experts in the field of pediatric hip surgery. Detailed surgical techniques, illustrated with original medical drawings and accompanied by their respective indications, anticipated outcomes, and potential complications, are also featured, in this first orthopedic text dedicated solely to the pediatric and adolescent hip. The Paediatric and Adolescent Hip: Essentials and Evidence will be an indispensable resource for wide spectrum of audience including paediatric orthopaedic surgeons, general practitioners, general orthopaedic surgeons, trauma surgeons, orthopaedic residents, emergency department doctors, and physiotherapists seeking a clear and consistent evidence-based guide to treating the paediatric hip.
Author : Sinéad M. Murphy
Publisher : Elsevier Inc. Chapters
ISBN 13 : 012807843X
Total Pages : 32 pages
Book Rating : 4.1/5 (28 download)
Download or read book Peripheral Nerve Disorders written by Sinéad M. Murphy and published by Elsevier Inc. Chapters. This book was released on 2013-08-17 with total page 32 pages. Available in PDF, EPUB and Kindle. Book excerpt: The inherited neuropathies are a clinically and genetically heterogeneous group of disorders in which there have been rapid advances in the last two decades. Molecular genetic testing is now an integral part of the evaluation of patients with inherited neuropathies. In this chapter we describe the genes responsible for the primary inherited neuropathies. We briefly discuss the clinical phenotype of each of the known inherited neuropathy subgroups, describe algorithms for molecular genetic testing of affected patients and discuss genetic counseling. The basic principles of careful phenotyping, documenting an accurate family history, and testing the available genes in an appropriate manner should identify the vast majority of individuals with CMT1 and many of those with CMT2. In this chapter we also describe the current methods of genetic testing. As advances are made in molecular genetic technologies and improvements are made in bioinformatics, it is likely that the current time-consuming methods of DNA sequencing will give way to quicker and more efficient high-throughput methods, which are briefly discussed here.
Author : Mohit Bhandari
Publisher : John Wiley & Sons
ISBN 13 : 1444345087
Total Pages : 1179 pages
Book Rating : 4.4/5 (443 download)
Download or read book Evidence-based Orthopedics written by Mohit Bhandari and published by John Wiley & Sons. This book was released on 2011-10-13 with total page 1179 pages. Available in PDF, EPUB and Kindle. Book excerpt: Surgical orthopedic procedures such as hip replacements, arthroscopy or knee replacements are surrounded by pre- and post-operative complications, and there are varying different methods for the procedures themselves. This book, for the first time, brings together the best evidence for treatments as well as any complications. Not only does it cover the evidence base for orthopedic surgery, but also orthopedic conditions requiring medical treatment, and pediatric orthopedics. Using the approved EBM methodology, and edited by teachers of evidence-based medicine, this is a genuine EBM textbook for all orthopedic specialists and trainees.
Author : Nicholas Wood
Publisher : Cambridge University Press
ISBN 13 : 1107376203
Total Pages : 251 pages
Book Rating : 4.1/5 (73 download)
Download or read book Neurogenetics written by Nicholas Wood and published by Cambridge University Press. This book was released on 2012-04-12 with total page 251 pages. Available in PDF, EPUB and Kindle. Book excerpt: Progress in genetic knowledge is profoundly affecting medical practice, and no clinical specialty has more diseases associated with genetic mutations than neurology. As a more complete picture of the genes which give rise to neurological disease is obtained, trainee and practising neurologists need a guide to basic principles and the more important clinical entities with a genetic component. It is against this background that Neurogenetics: A Guide for Clinicians has been written. The book opens with coverage of genetic testing and counselling. Subsequent chapters discuss genetic factors for all the major neurological diseases, including epilepsy, Alzheimer's disease, Parkinsonism and muscular dystrophies. No book in this field can hope to be fully up to date with the latest research; rather this work provides a framework on which to add new genetic discoveries. Neurogenetics: A Guide for Clinicians provides a synoptic overview for neurologists, medical geneticists and scientists working in the field.
Author : Gérard Said
Publisher : Elsevier
ISBN 13 : 0444633553
Total Pages : 1008 pages
Book Rating : 4.4/5 (446 download)
Download or read book Peripheral Nerve Disorders written by Gérard Said and published by Elsevier. This book was released on 2013-08-17 with total page 1008 pages. Available in PDF, EPUB and Kindle. Book excerpt: Disorders of the peripheral nervous system (PNS) are the cause of prominent neurological symptoms including weakness, sensory loss, pain and autonomic dysfunction associated with deficits, morbidity and mortality. These disorders may be primary hereditary or cryptogenic neurologic disorders confined to the PNS or part of the pathology of both the central nervous system and the PNS. Most PNS disorders are secondary to other system disorders and may be responsive to treatment of the primary disease. Important advances have been obtained in several areas including molecular genetics, biochemistry, immunology, morphology and physiology that have enhanced our understanding of the causes and consequences of damage to peripheral nerve. Understanding of both these groups of PNS diseases has greatly expanded over recent years and has led to important advances of treatment both to protect and to repair damages of peripheral nerve. This volume provides an overview of the state-of-the-art of examination, diagnosis and treatment of these very diverse disorders and will be of interest to both the research and clinical neuroscience and neurology communities. - Covers both hereditary and cryptogenic neurologic disorders - Includes advances in the basic science of PNS from molecular genetics, biochemistry, immunology, morphology and physiology - Detailed coverage of neuropathy in connective tissue disorders, infectious disorders, metabolic disorders and malignancy
