Duchenne Muscular Dystrophy by Alan E. H. Emery,Francesco Muntoni,Rosaline C. M. Quinlivan

Duchenne Muscular Dystrophy
  • Title : Duchenne Muscular Dystrophy
  • Author : Alan E. H. Emery,Francesco Muntoni,Rosaline C. M. Quinlivan
  • Publisher : Oxford University Press, USA
  • ISBN Code : 0199681481
  • Pages : 320
  • Format : Pdf - ePub
  • Language : English
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Summary:

Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies. Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy.


Duchenne Muscular Dystrophy by Jeffrey S. Chamberlain,Thomas A. Rando

Duchenne Muscular Dystrophy
  • Title : Duchenne Muscular Dystrophy
  • Author : Jeffrey S. Chamberlain,Thomas A. Rando
  • Publisher : CRC Press
  • ISBN Code : 9780849374456
  • Pages : 496
  • Format : Pdf - ePub
  • Language : English
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Summary:

Duchenne Muscular Dystrophy (DMD) is one of the most prevalent genetic disorders of childhood and currently stands as an incurable condition. This authoritative guide provides a clear overview of the latest current and experimental approaches to the treatment of DMD and examines the clinical, genetic, and pathophysiological aspects of the disease in the context of emerging therapeutic modalities. The only available source on the subject, this reference emphasizes the importance of accurate diagnosis, carrier detection, and genetic counseling, and supplies state-of-the-art contributions on pharmacological interventions, regenerative medicine, and gene therapy.


Duchenne Muscular Dystrophy by Samuel Alexandre Almeida Honorio

Duchenne Muscular Dystrophy
  • Title : Duchenne Muscular Dystrophy
  • Author : Samuel Alexandre Almeida Honorio
  • Publisher :
  • ISBN Code : 9781634821537
  • Pages : 200
  • Format : Pdf - ePub
  • Language : English
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Summary:

A child with Duchenne Muscular Dystrophy (DMD) faces a childhood and adolescence with a disability that develops gradually. This book intends to expose the problems of children with DMD. The authors discuss situations related to the disease in an attempt to provide some quality and improvement of life for those affected since DMD is a degenerative disease which affects muscle. This book offers a historical study of muscular dystrophy. It also shows some profiles of excellent clinicians and scientists that have contributed to this book with a description of muscular dystrophy from the clinical picture, to the latest techniques in genetics. Also included in the chapters are resolutions of several approaches to DMD, like scales, in order to anticipate how to manage the disease. This book relates some techniques of moderate exercise, like Yoga and water exercises, that are compliable with some advantages in mobility. The book concludes with some current trends and what can be done in the future. This book can be a good read to everyone that is interested in DMD, and also for the ones who know or provide care for those with this terrible disease.


The History of a Genetic Disease by Alan E. H. Emery,Marcia L. H. Emery

The History of a Genetic Disease
  • Title : The History of a Genetic Disease
  • Author : Alan E. H. Emery,Marcia L. H. Emery
  • Publisher : Oxford University Press
  • ISBN Code : 0199591474
  • Pages : 231
  • Format : Pdf - ePub
  • Language : English
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Summary:

This illustrated and comprehensive historical account deals successively with the early history of muscular dystrophy, refinements of its clinical picture, heterogeneity and the classification and description of the disease, the biochemistry, pathogenesis and the molecular genetics of the disorder and, finally, gene therapy.


Occupational Therapy and Duchenne Muscular Dystrophy by Kate Stone,Claire Tester,Joy Blakeney,Alex Howarth,Hether McAndrew,Nicola Traynor,Mary McCutcheon,Ruth Johnston

Occupational Therapy and Duchenne Muscular Dystrophy
  • Title : Occupational Therapy and Duchenne Muscular Dystrophy
  • Author : Kate Stone,Claire Tester,Joy Blakeney,Alex Howarth,Hether McAndrew,Nicola Traynor,Mary McCutcheon,Ruth Johnston
  • Publisher : John Wiley & Sons
  • ISBN Code : 9780470510407
  • Pages : 272
  • Format : Pdf - ePub
  • Language : English
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Summary:

This is a practical guide for Occupational Therapists and others who provide services to people who have Duchenne muscular dystrophy. The goal of the book is to deepen the readers understanding of the support that occupational therapists can offer to families who are affected by this condition. Written by experienced occupational therapists with a special interest in Duchenne muscular dystrophy. The book will provide information and support to therapists who may be working in isolation, or who rarely work with this client group. It is for the experienced therapist as well as the student. Each chapter of this book gives a clear and comprehensive description of different aspects of occupational therapy assessments and interventions.


Duchenne Muscular Dystrophy by Camilla Bernardini

Duchenne Muscular Dystrophy
  • Title : Duchenne Muscular Dystrophy
  • Author : Camilla Bernardini
  • Publisher : Humana Press
  • ISBN Code : 9781493973736
  • Pages : 287
  • Format : Pdf - ePub
  • Language : English
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Summary:

This volume explores experimental approaches used to study Duchenne muscular dystrophy (DMD), an X-linked degenerative skeletal muscle disease caused by mutations in the dystrophin gene. Including the latest progress and scientific achievements, the book covers recent discoveries achieved through in vivo gene editing which have proven to be promising in restoring dystrophin expression, at least in ameliorating skeletal muscle symptoms, and the contents focus on “Omics” techniques in gene expression, protein expression, miRNAs, and long non-coding RNA analysis, as well as experimental studies of the structural/functional changes affecting the skeletal and cardiac muscles and ongoing preclinical studies and clinical trials. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Duchenne Muscular Dystrophy: Methods and Protocols serves as a guide for researchers exploring the complicated nature of dystrophin in the hope of helping the victims of this disorder.


Dan and DMD by Joseph Yasmeh

Dan and DMD
  • Title : Dan and DMD
  • Author : Joseph Yasmeh
  • Publisher :
  • ISBN Code : 9781533110640
  • Pages : 34
  • Format : Pdf - ePub
  • Language : English
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Summary:

Dan's an up-beat boy who loves to have a blast. And like many young boys, he was born with Duchenne muscular dystrophy. This is his story.


Muscle Cell and Tissue by Kunihiro Sakuma

Muscle Cell and Tissue
  • Title : Muscle Cell and Tissue
  • Author : Kunihiro Sakuma
  • Publisher : BoD – Books on Demand
  • ISBN Code : 9535121561
  • Pages : 486
  • Format : Pdf - ePub
  • Language : English
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Summary:

In order to complete tissue regeneration, various cells such as neuronal, skeletal, smooth, endothelial, and immune (e.g., macrophage) interact smoothly with each other. This book, Muscle Cells and Tissues, offers a wide range of topics such as stem cells, cell culture, biomaterials, epigenetics, therapeutics, and the creation of tissues and organs. Novel applications for cell and tissue engineering including cell therapy, tissue models, and disease pathology modeling are discussed. The book also deals with the functional role of autophagy in modulating muscle homeostasis and molecular mechanism regulating skeletal muscle mass. The chapters can be interesting for graduate students, postdocs, teachers, physicians, and for executives in biotech and pharmaceutical companies, as well as researchers in the fields of molecular biology and regenerative medicine.


A Guide to Duchenne Muscular Dystrophy by Janet Hoskin

A Guide to Duchenne Muscular Dystrophy
  • Title : A Guide to Duchenne Muscular Dystrophy
  • Author : Janet Hoskin
  • Publisher : Jessica Kingsley Publishers
  • ISBN Code : 1784504343
  • Pages : 232
  • Format : Pdf - ePub
  • Language : English
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Summary:

The prognosis for individuals with Duchenne Muscular Dystrophy (DMD) is improving, with some men with DMD living into their 30s and 40s. More vital than ever, this book helps teachers and parents to support children and young people with DMD with their education and transition into adulthood. Leading experts on DMD explain Duchenne and its impact in easy-to-understand terms. Going beyond physical management, particular focus is put on learning and behavioural issues, including speech delay and difficulty learning to read, as well as common comorbid conditions, such as ADHD, autism and OCD. Raising aspirations, the book gives guidance on effective support in the classroom and advice on the transition to adulthood, employment and independent living.


Muscle Gene Therapy by Dongsheng Duan

Muscle Gene Therapy
  • Title : Muscle Gene Therapy
  • Author : Dongsheng Duan
  • Publisher : Springer Science & Business Media
  • ISBN Code : 9781441912077
  • Pages : 275
  • Format : Pdf - ePub
  • Language : English
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Summary:

Muscle disease represents an important health threat to the general population. There is essentially no cure. Gene therapy holds great promise to correct the genetic defects and eventually achieve full recovery in these diseases. Significant progresses have been made in the field of muscle gene therapy over the last few years. The development of novel gene delivery vectors has substantially enhanced specificity and efficiency of muscle gene delivery. The new knowledge on the immune response to viral vectors has added new insight in overcoming the immune obstacles. Most importantly, the field has finally moved from small experimental animal models to human patients. This book will bring together the leaders in the field of muscle gene transfer to provide an updated overview on the progress of muscle gene therapy. It will also highlight important clinical applications of muscle gene therapy.


Fibrinolysis and Thrombolysis by Krasimir Kolev

Fibrinolysis and Thrombolysis
  • Title : Fibrinolysis and Thrombolysis
  • Author : Krasimir Kolev
  • Publisher : BoD – Books on Demand
  • ISBN Code : 9535112651
  • Pages : 208
  • Format : Pdf - ePub
  • Language : English
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Summary:

This book familiarizes the reader with some recent trends in the theory and practice of thrombolysis. It covers the field of fibrinolysis from the standpoint of basic scientists and clinicians and delivers the state-of-the-art information on the biochemistry and pharmacology of fibrinolysis, as well as related novel methodological and diagnostic tools in the field. An introductory chapter summarizes the basic molecular mechanisms in fibrinolysis (plasminogen, its endogenous activators and their inhibitors, plasmin and its inhibitors). Recent developments in our understanding of fibrin formation are described in the context of its impact on fibrinolysis. The discussion of neutrophil extracellular traps in the modulation of fibrin assembly and the consequences regarding plasminogen activation and plasmin action addresses a novel aspect of fibrinolysis.


International Neurology by Robert P. Lisak

International Neurology
  • Title : International Neurology
  • Author : Robert P. Lisak
  • Publisher : John Wiley & Sons
  • ISBN Code : 1118777360
  • Pages : 776
  • Format : Pdf - ePub
  • Language : English
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Summary:

This unique textbook deals with the variations in the causes, presentations and treatment of neurological disease throughout human populations. International Neurology is an indispensable guide to the full range of neurological conditions you will see in your ever-changing patient population. Comprehensive coverage of neurological diseases and disorders with a clinical approach to diagnosis, treatment and management Truly international authorship distils expert knowledge from around the world Succinct, bite-sized, templated chapters allow for rapid clinical referral Further reading recommendations for each chapter guide readers requiring more depth of information Endorsed by the World Federation of Neurology


100 Questions and Answers about Muscular Dystrophy by Kathryn Wagner

100 Questions and Answers about Muscular Dystrophy
  • Title : 100 Questions and Answers about Muscular Dystrophy
  • Author : Kathryn Wagner
  • Publisher : Jones & Bartlett Publishers
  • ISBN Code : 128420166X
  • Pages : 250
  • Format : Pdf - ePub
  • Language : English
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Summary:

EMPOWER YOURSELF! According to the National Organization for Rare Disorders (NORD), over 250,000 people are affected by muscular dystrophies (MD) in the United States, including Duchenne muscular dystrophy (DMD), myotonic muscular dystrophy (DM), facioscapulohumeral muscular dystrophy (FSHD), and limb-girdle muscular dystrophy (LGMD) among many others. No one with MD needs to be alone in their fight against this rare disorder. That's where this book and the authoritative information within can help. 100 Questions & Answers About Muscular Dystrophy offers essential and practical guidance. This unique book provides both doctor and patient perspectives and offers answers to the most asked questions by patients and their loved ones. Is it safe to exercise? How do I find a clinical trial in which to participate? What are some things to remember when going to the emergency department? What can I do about fatigue? Along with the answers to these and other questions, this book provides information on diagnosis, treatment, living with MD, new therapeutic options, and more. Written by a leading expert on the topic with more than 20 years experience caring for patients with MD, 100 Questions & Answers About Muscular Dystrophy is an easy-to-read book and must-have resource for those living with MD, as well as their loved ones.


Genetic Neuromuscular Disorders by Corrado Angelini

Genetic Neuromuscular Disorders
  • Title : Genetic Neuromuscular Disorders
  • Author : Corrado Angelini
  • Publisher : Springer
  • ISBN Code : 3319075004
  • Pages : 384
  • Format : Pdf - ePub
  • Language : English
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Summary:

This book describes the genetic diagnostic entities of neuromuscular disorders. Each neuromuscular syndrome is presented clinically as a case study, accompanied by text reviewing different molecular defects, DNA research and differential diagnosis. This collection of neuromuscular disorders features the different clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.


Gene Therapy by Doaa Hashad

Gene Therapy
  • Title : Gene Therapy
  • Author : Doaa Hashad
  • Publisher : BoD – Books on Demand
  • ISBN Code : 9535122215
  • Pages : 218
  • Format : Pdf - ePub
  • Language : English
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Summary:

Gene therapy is becoming a promising technology for the management of many human diseases. Hereditary and acquired disorders can both be tackled using the technique of gene therapy. This book provides detailed, up-to-date topics addressing basic principles of gene therapy and discussing some of the challenges encountered by scientists in developing this relatively novel technology. The development of new and efficient gene transfer vectors is of utmost importance in the progress of the field of gene therapy. Both viral and non-viral vectors are extensively discussed. A detailed chapter elaborates the problem of host immune rejection of transplanted donor cells or engineered tissue that can be avoided using the encapsulation of transgenic cells, thus avoiding the use of drugs that achieve immunosuppression.


Neuromuscular Disorders of Infancy, Childhood, and Adolescence by Basil T. Darras,H. Royden Jones, Jr.,Monique M. Ryan,Darryl C. De Vivo

Neuromuscular Disorders of Infancy, Childhood, and Adolescence
  • Title : Neuromuscular Disorders of Infancy, Childhood, and Adolescence
  • Author : Basil T. Darras,H. Royden Jones, Jr.,Monique M. Ryan,Darryl C. De Vivo
  • Publisher : Elsevier
  • ISBN Code : 0124171273
  • Pages : 1160
  • Format : Pdf - ePub
  • Language : English
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Summary:

Neuromuscular disorders are diagnosed across the lifespan and create many challenges especially with infants, children and adolescents. This new edition of the definitive reference, edited by the established world renowned authorities on the science, diagnosis and treatment of neuromuscular disorders in childhood is a timely and needed resource for all clinicians and researchers studying neuromuscular disorders, especially in childhood. The Second Edition is completely revised to remain current with advances in the field and to insure this remains the standard reference for clinical neurologists and clinical research neurologists. The Second Edition retains comprehensive coverage while shortening the total chapter count to be an even more manageable and effective reference. Carefully revised new edition of the classic reference on neuromuscular disorders in infancy, childhood and adolescence. Definitive coverage of the basic science of neuromuscular disease and the latest diagnosis and treatment best practices. Includes coverage of clinical phenomenology, electrophysiology, histopathology, molecular genetics and protein chemistry


The Muscular Dystrophies by Alan E. H. Emery

The Muscular Dystrophies
  • Title : The Muscular Dystrophies
  • Author : Alan E. H. Emery
  • Publisher : Oxford Medical Publications
  • ISBN Code :
  • Pages : 316
  • Format : Pdf - ePub
  • Language : English
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Summary:

The muscular dystrophies are an important group of inherited disorders. They are characterized by muscle wasting and weakness, but vary considerably in their clinical manifestations and severity. This text reviews our understanding of the most important of these disorders. In many instances, the genes and protein products responsible for the dystrophies have been identified and it is now possible to establish a precise diagnosis, detect preclinical cases, identify carriers and offer prenatal dianostic testing. The book goes on to describe the opportunities for management of the symptoms through respiratory care, physiotherapy and surgical correction of contracture, and examines the potential, in the future, for effective treatment utilizing the new techniques of gene and cell therapy. Professor Emery has invited chapters from the leading international experts in the field providing a unique insight into the current situation and the hopes for the future.


Orthopedic Surgery Clerkship by Adam E. M. Eltorai,Craig P. Eberson,Alan H. Daniels

Orthopedic Surgery Clerkship
  • Title : Orthopedic Surgery Clerkship
  • Author : Adam E. M. Eltorai,Craig P. Eberson,Alan H. Daniels
  • Publisher : Springer
  • ISBN Code : 3319525670
  • Pages : 811
  • Format : Pdf - ePub
  • Language : English
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Summary:

This quick-reference guide is the first book written specifically for the many third- and fourth-year medical students rotating on an orthopedic surgery service. Organized anatomically, it focuses on the diagnosis and management of the most common pathologic entities. Each chapter covers history, physical examination, imaging, and common diagnoses. For each diagnosis, the book sets out the typical presentation, options for non-operative and operative management, and expected outcomes. Chapters include key illustrations, quick-reference charts, tables, diagrams, and bulleted lists. Each chapter is co-authored by a senior resident or fellow and an established academic physician and is concise enough to be read in two or three hours. Students can read the text from cover to cover to gain a general foundation of knowledge that can be built upon when they begin their rotation, then use specific chapters to review a sub-specialty before starting a new rotation or seeing a patient with a sub-specialty attending. Practical and user-friendly, Orthopedic Surgery Clerkship is the ideal, on-the-spot resource for medical students and practitioners seeking fast facts on diagnosis and management. Its bullet-pointed outline format makes it a perfect quick-reference, and its content breadth covers the most commonly encountered orthopedic problems in practice.


Pharmacology and Nutritional Intervention in the Treatment of Disease by Faik Atroshi

Pharmacology and Nutritional Intervention in the Treatment of Disease
  • Title : Pharmacology and Nutritional Intervention in the Treatment of Disease
  • Author : Faik Atroshi
  • Publisher : BoD – Books on Demand
  • ISBN Code : 9535113836
  • Pages : 428
  • Format : Pdf - ePub
  • Language : English
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Summary:

Pharmacology and Nutritional Intervention in the Treatment of Disease is a book dealing with an important research field that has worldwide significance. Its aim is to strengthen the research base of this field of investigation as it yields knowledge that has important implications for biomedicine, public health and biotechnology. The book has brought together an interdisciplinary group of contributors and prominent scholars from different parts of the world. The basic purpose of this book was to promote interaction and discussion of problems of mutual interests among people in related fields everywhere. The main subjects of the book include nutrition, mechanisms underlying treatments, physiological aspects of vitamins and trace elements, antioxidants: regulation, signalling, infection and inflammation, and degenerative and chronic diseases.


XIV Mediterranean Conference on Medical and Biological Engineering and Computing 2016 by Efthyvoulos Kyriacou,Stelios Christofides,Constantinos S. Pattichis

XIV Mediterranean Conference on Medical and Biological Engineering and Computing 2016
  • Title : XIV Mediterranean Conference on Medical and Biological Engineering and Computing 2016
  • Author : Efthyvoulos Kyriacou,Stelios Christofides,Constantinos S. Pattichis
  • Publisher : Springer
  • ISBN Code : 3319327038
  • Pages : 1367
  • Format : Pdf - ePub
  • Language : English
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Summary:

This volume presents the proceedings of Medicon 2016, held in Paphos, Cyprus. Medicon 2016 is the XIV in the series of regional meetings of the International Federation of Medical and Biological Engineering (IFMBE) in the Mediterranean. The goal of Medicon 2016 is to provide updated information on the state of the art on Medical and Biological Engineering and Computing under the main theme “Systems Medicine for the Delivery of Better Healthcare Services”. Medical and Biological Engineering and Computing cover complementary disciplines that hold great promise for the advancement of research and development in complex medical and biological systems. Research and development in these areas are impacting the science and technology by advancing fundamental concepts in translational medicine, by helping us understand human physiology and function at multiple levels, by improving tools and techniques for the detection, prevention and treatment of disease. Medicon 2016 provides a common platform for the cross fertilization of ideas, and to help shape knowledge and scientific achievements by bridging complementary disciplines into an interactive and attractive forum under the special theme of the conference that is Systems Medicine for the Delivery of Better Healthcare Services. The programme consists of some 290 invited and submitted papers on new developments around the Conference theme, presented in 3 plenary sessions, 29 parallel scientific sessions and 12 special sessions.


Modern Tools for Genetic Engineering by Michael Kormann

Modern Tools for Genetic Engineering
  • Title : Modern Tools for Genetic Engineering
  • Author : Michael Kormann
  • Publisher : BoD – Books on Demand
  • ISBN Code : 9535123920
  • Pages : 226
  • Format : Pdf - ePub
  • Language : English
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Summary:

Site-specific endonucleases create double-strand breaks within the genome and can be targeted to literally any genetic mutation. Together with a repair template, a correction of the defective locus becomes possible. This book offers insight into the modern tools of genome editing, their hurdles and their huge potential. A new era of in vivo genetic engineering has begun.


Regenerative Medicine for Degenerative Muscle Diseases by Martin K. Childers

Regenerative Medicine for Degenerative Muscle Diseases
  • Title : Regenerative Medicine for Degenerative Muscle Diseases
  • Author : Martin K. Childers
  • Publisher : Humana Press
  • ISBN Code : 1493932284
  • Pages : 336
  • Format : Pdf - ePub
  • Language : English
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Summary:

This book compiles and explores cutting-edge research in degenerative skeletal disorders, such as Duchenne muscular dystrophy and congenital myopathy, and new stem-cell based therapies and gene replacement therapy. Twelve expertly-authored chapters navigate the nuances of these treatments in an array of contexts and biological systems. The topics covered include: How are urine cells from a patient with Duchenne muscular dystrophy transformed into beating heart cells? What can reprogrammed cells tell us about heart muscle failure? What do gene mutations mean for those born with a muscle disease? How are manufacturing methods applied to human stem cells? Does therapeutic exercise benefit those patients who receive engineered limb muscle? Is there practical advice about nutrition to enhance muscle function for the Duchenne patient? Can microRNAs be useful to regenerate diseased muscle? Regenerative Medicine for Degenerative Muscle Diseases is ideal for scientists and clinicians from varying disciplines in genetics, cell biology, virology, cell-based manufacturing, rehabilitation medicine, nutrition, veterinary medicine and neurosurgery. The reader will see how transformative changes occur in medicine that can powerfully impact the future for patients suffering from inherited disorders affecting muscles of the body, including the heart.


Non-Idiopathic Spine Deformities in Young Children by Muharrem Yazici

Non-Idiopathic Spine Deformities in Young Children
  • Title : Non-Idiopathic Spine Deformities in Young Children
  • Author : Muharrem Yazici
  • Publisher : Springer Science & Business Media
  • ISBN Code : 9783642194177
  • Pages : 175
  • Format : Pdf - ePub
  • Language : English
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Summary:

Non-idiopathic early onset scoliosis represents a true challenge to the physician due to the significance of the ongoing growth of the spine, the risk of curve progression, and the risk of pulmonary insufficiency. A comprehensive review of the growth mechanisms of spine in infancy forms the basis of the book. Clinical evaluation and imaging of early onset scoliosis contribute to the diagnostic overview. The main causes of non-idiopathic early onset scoliosis are briefly described in the second part of the book. The last group of chapters presents the conservative and surgical treatments that are available along with their results, chances and challenges. This comprehensive guide is an opportunity for every specialist involved in the treatment of these severe deformities, to obtain an update of the actual trends and knowledge in the field in a one-point reference.


Muscular Dystrophy by Raymond A. Huml

Muscular Dystrophy
  • Title : Muscular Dystrophy
  • Author : Raymond A. Huml
  • Publisher : Springer
  • ISBN Code : 3319173626
  • Pages : 191
  • Format : Pdf - ePub
  • Language : English
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Summary:

This practical and concise guide offers an overview of muscular dystrophy's complicated features, treatment options and general resources. New treatments and a greater understanding of proteins and structures associated with MD are discussed along with long term patient care. Also included are clinical and developmental challenges within the current regulatory landscape and recent scientific and clinical advances. Muscular Dystrophy offers clinicians, researchers, pharmaceutical executives and patient advocacy groups an easy-to-read reference that provides the necessary perspectives of the care giver and patient.


Muscle Regeneration by Alexander Mauro,Richard Bischoff

Muscle Regeneration
  • Title : Muscle Regeneration
  • Author : Alexander Mauro,Richard Bischoff
  • Publisher : Raven Press (ID)
  • ISBN Code :
  • Pages : 560
  • Format : Pdf - ePub
  • Language : English
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Summary:


Duchenne Muscular Dystrophy by Byron Arthur Kakulas,John McC. Howell,Allen D. Roses

Duchenne Muscular Dystrophy
  • Title : Duchenne Muscular Dystrophy
  • Author : Byron Arthur Kakulas,John McC. Howell,Allen D. Roses
  • Publisher : Raven Press (ID)
  • ISBN Code :
  • Pages : 308
  • Format : Pdf - ePub
  • Language : English
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Summary:

This timely volume assesses recent progress in the search for a curative treatment for Duchenne muscular dystrophy (DMD). Leading international experts highlight important advances in our understanding of dystrophinopathies, discuss the use of animal models in developing therapies for DMD, and analyze experiments in humans and animals on myoblast transfer and direct gene transfer therapy. The papers presented and the critical discussions among the contributing authors define the major problems that need to be addressed in future research. The opening chapters review the latest studies on the pathological features of Duchenne and Becker muscular dystrophy. the ultrastructural localization and functions of dystrophin, and normal and abnormal dystrophin gene expression. The contributors then describe and compare two different animal models of Duchenne muscular dystrophy: the xmd dog, which exhibits skeletal muscular dystrophy similar to human DMD, and the mdx mouse, which shares the genetic dystrophin defect underlying the disease, but does not develop severe progressive skeletal myopathy. Full consideration is given to the relevance of both animal models in defining the mechanisms of muscular dystrophy and evaluating therapeutic strategies. A major portion of the book focuses on experiments with myoblast transfer in DMD patients and in animals. Noted investigators detail methods for determining the extent to which transplanted non-dystrophic myoblasts survive within the host, fuse with dystrophic muscle, correct the dystrophin defect, arrest the pathological changes in the host muscle, and prevent or slow the progressive loss of muscle function. The contributors also explore new approaches to direct gene transfer in DMD and assess the relative feasibility of donor myoblast transfer, direct gene transfer, and patient myoblast-mediated gene transfer. This volume offers much-needed direction to researchers developing therapies for Duchenne and Becker muscular dystrophy. It will also be a valuable stimulus to scientists investigating other muscular dystrophies and genetic diseases.


NORD Guide to Rare Disorders by National Organization for Rare Disorders

NORD Guide to Rare Disorders
  • Title : NORD Guide to Rare Disorders
  • Author : National Organization for Rare Disorders
  • Publisher : Lippincott Williams & Wilkins
  • ISBN Code : 9780781730631
  • Pages : 895
  • Format : Pdf - ePub
  • Language : English
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Summary:

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.


Molecular Genetic Characterization of Spontaneously Occurring Animal Models of Duchenne Muscular Dystrophy by Nena Joy Winand

Molecular Genetic Characterization of Spontaneously Occurring Animal Models of Duchenne Muscular Dystrophy
  • Title : Molecular Genetic Characterization of Spontaneously Occurring Animal Models of Duchenne Muscular Dystrophy
  • Author : Nena Joy Winand
  • Publisher :
  • ISBN Code :
  • Pages : 260
  • Format : Pdf - ePub
  • Language : English
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Summary:


I Hate Muscular Dystrophy Loving a Child with a Life-Altering Disease by Esq Star Bobatoon

I Hate Muscular Dystrophy Loving a Child with a Life-Altering Disease
  • Title : I Hate Muscular Dystrophy Loving a Child with a Life-Altering Disease
  • Author : Esq Star Bobatoon
  • Publisher :
  • ISBN Code : 9780981711188
  • Pages : 120
  • Format : Pdf - ePub
  • Language : English
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Summary:

Star Babatoon tells the story of her son Hurricane, who was diagnosed with Duchenne muscular dystrophy when he was five and its impact on her and her family.


Cumulated Index Medicus by N.A

Cumulated Index Medicus
  • Title : Cumulated Index Medicus
  • Author : N.A
  • Publisher :
  • ISBN Code :
  • Pages : N.A
  • Format : Pdf - ePub
  • Language : English
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Summary:


Adenoviral Vectors for Treatment of Duchenne Muscular Dystrophy by Dennis Joseph Hartigan-O'Connor

Adenoviral Vectors for Treatment of Duchenne Muscular Dystrophy
  • Title : Adenoviral Vectors for Treatment of Duchenne Muscular Dystrophy
  • Author : Dennis Joseph Hartigan-O'Connor
  • Publisher :
  • ISBN Code :
  • Pages : N.A
  • Format : Pdf - ePub
  • Language : English
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Muscular Dystrophy by Katherine M.D. Bushby,Louise V.B. Anderson

Muscular Dystrophy
  • Title : Muscular Dystrophy
  • Author : Katherine M.D. Bushby,Louise V.B. Anderson
  • Publisher : Springer Science & Business Media
  • ISBN Code :
  • Pages : 457
  • Format : Pdf - ePub
  • Language : English
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Summary:

Katherine Bushby and Louise Anderson assemble an outstanding collection of key techniques for the analysis of DNA and protein from patients suspected to suffer from muscular dystrophy. Each method is highly detailed to ensure success and is presented by a hands-on expert. The various DNA techniques focus on both the X-linked muscular dystrophies and the autosomal recessive muscular dystrophies. The protein methods include expression analysis, multiplex western blot analysis, immunocytochemical analysis, and reviews of immunological reagents and of amplification systems. Comprehensive and highly practical, Muscular Dystrophy: Methods and Protocols offers today's diagnostic laboratories, basic and medical researchers, and clinicians an authoritative collection of tools that will serve as exacting diagnostic tools as well as greatly empowering research on the novel therapeutics now beginning to emerge.


Tracking the Pathophysiology of Duchenne Muscular Dystrophy (DMD) with Functional Proteomics by Yue Ge

Tracking the Pathophysiology of Duchenne Muscular Dystrophy (DMD) with Functional Proteomics
  • Title : Tracking the Pathophysiology of Duchenne Muscular Dystrophy (DMD) with Functional Proteomics
  • Author : Yue Ge
  • Publisher :
  • ISBN Code :
  • Pages : N.A
  • Format : Pdf - ePub
  • Language : English
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Cardiomyopathies by Kaan Kırali

Cardiomyopathies
  • Title : Cardiomyopathies
  • Author : Kaan Kırali
  • Publisher : BoD – Books on Demand
  • ISBN Code : 9535130390
  • Pages : 470
  • Format : Pdf - ePub
  • Language : English
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Summary:

Cardiomyopathies are the most featured cardiac pathologies in the twenty-first century, that threaten public health and burden healthcare budgets. This book is composed of the main topics on pathophysiology, general forms and specific types of cardiomyopathies and it also introduces new research in the field. Specific forms with or without genetic inheritance are discussed separately to attract the readers' attention on these topics. Well-known medical follow-up strategies occur ineffective at the end-stage heart failure, however, new surgical approaches can be an alternative for these patients to get a chance at the last crossroad and to improve their life quality and survival and also to gain or prolong time until possible heart transplantation.


Exon Skipping by Annemieke Aartsma-Rus

Exon Skipping
  • Title : Exon Skipping
  • Author : Annemieke Aartsma-Rus
  • Publisher : Humana Press
  • ISBN Code : 9781617797668
  • Pages : 440
  • Format : Pdf - ePub
  • Language : English
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Summary:

“Next generation” sequencing techniques allow for more detailed analysis of exons and introns in multiple genes at the same time. This will reveal many mutations that potentially lead to exon skipping. To functionally test these a lot can be achieved with a limited set of protocols, while for the intentional induction of exon skipping different tools and target genes are involved and the translational path from in vitro splicing to in vivo tests in animal models requiring a more extensive set of protocols. Exon Skipping: Methods and Protocols provides scientist with a comprehensive guide to many of the methods and techniques used for exon skipping, such as methods on how to discriminate “real polymorphisms” from mutations that affect splicing. Written in the highly successful Methods in Molecular BiologyTM series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and key tips on troubleshooting and avoiding known pitfalls. Authoritative and practical Exon Skipping: Methods and Protocols seeks to aid scientists in the continuing study of exon skipping.


Moonrise by Penny Wolfson

Moonrise
  • Title : Moonrise
  • Author : Penny Wolfson
  • Publisher : St. Martin\'s Press
  • ISBN Code : 146686883X
  • Pages : 256
  • Format : Pdf - ePub
  • Language : English
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Summary:

Moonrise is Penny Wolfson's first-person account of her family, her son Ansel, and his progressive disability, caused by the genetic disease Duchenne muscular dystrophy. The journey begins when he is born and deemed a particularly beautiful and magical baby, continues with the alarming possibility, at the age of two, of "wrongness," takes us through the diagnosis of disease and prognosis of early death, and brings us to his adolescence, where his parents are never sure if the moon is rising or setting over his life. As she traces her son's development and the impact of his disability on her worldview, she embarks on a quest to understand scientific advances and their implications. (The gene was isolated at approximately the time Ansel was diagnosed.) She also explores special education, giftedness, prenatal testing, and the genetic links she shares with her mother, sisters, and son. Questions about the disease-causing mutation persist: What does knowledge of the self on a molecular level mean? Is genetic self-knowledge our goal now, much as knowledge of the psyche was in the last century? Moonrise is an essential contribution to the dialogue about genetics, as well as a deeply human story about a remarkable child and his family.


Neurobiology of Disease by N.A

Neurobiology of Disease
  • Title : Neurobiology of Disease
  • Author : N.A
  • Publisher : Elsevier
  • ISBN Code : 9780080466385
  • Pages : 1104
  • Format : Pdf - ePub
  • Language : English
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Summary:

Neurobiology of Disease is aimed at any basic scientist or clinician scientist teaching a course or conducting research on the basic science underlying the major neurological diseases. It provides an excellent overview of cutting-edge research on the fundamental disorders of the nervous system, including physiological and molecular aspects of dysfunction. The major categories of neurological disease are covered, and the chapters provide specific information about particular diseases exemplifying each of these categories. Sufficient clinical information is included to put into perspective the basic mechanisms discussed. The book assembles a world-class team of section editors and chapters written by acknowledged experts in their respective fields. Provides cutting edge information about fundamental mechanisms underlying neurological diseases Amply supplied with tables, illustrations and references Includes supporting clinical information putting the mechanisms of disease into perspective


Punctuation in Context - Past and Present Perspectives by Claudia Claridge,Merja Kytö

Punctuation in Context - Past and Present Perspectives
  • Title : Punctuation in Context - Past and Present Perspectives
  • Author : Claudia Claridge,Merja Kytö
  • Publisher : Peter Lang Gmbh, Internationaler Verlag Der Wissenschaften
  • ISBN Code : 9783034337908
  • Pages : 308
  • Format : Pdf - ePub
  • Language : English
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Summary:

The book showcases grammatical, pragmatic, and stylistic functions of punctuation, and shows how punctuation can encode emotion, metalinguistic marking, foregrounding and paralinguistic indications. It also highlights the sensibility of punctuation to genre and the speech-writing continuum, and shows how punctuation conventions change in time.


Cell Therapy by Dwaine F. Emerich,Gorka Orive

Cell Therapy
  • Title : Cell Therapy
  • Author : Dwaine F. Emerich,Gorka Orive
  • Publisher : Springer
  • ISBN Code : 3319571532
  • Pages : 328
  • Format : Pdf - ePub
  • Language : English
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Summary:

This volume provides a comprehensive, state-of-the art review of the field of cell therapy. The volume begins with an overview of the breadth of the field and then turns to overviews of imaging technologies that can aid in both safety and efficacy evaluations. The book then turns to numerous contributions detailing the rapidly growing field of stem cell therapies. These sections cover our understanding of the natural roles of stem cells in biology and human disease and then touches on several of the more prominent areas where stem cells are moving rapidly into clinical evaluation including neurodegenerative diseases, muscular dystrophy, cardiac repair, and diabetes. The volume concludes with contributions from experts in oncology, ophthalmology, stem cells, 3-D printing, and biomaterials where the convergence of expertise is leading to unprecedented insights into how to minutely control the in vivo fate and function of transplanted and/or endogeneously mobilized cells. Finally, the book provides insights into the pivotal relationship between academic and industrial partnerships. This volume is designed to touch on the major areas where the field will make its greatest and most immediate clinical impacts. This text will provide a useful resource for physicians and researchers interested in the rapidly changing filed of cell therapy.


Disorders of Voluntary Muscle by George Karpati,David Hilton-Jones,Robert C. Griggs

Disorders of Voluntary Muscle
  • Title : Disorders of Voluntary Muscle
  • Author : George Karpati,David Hilton-Jones,Robert C. Griggs
  • Publisher : Cambridge University Press
  • ISBN Code : 9780521650625
  • Pages : 775
  • Format : Pdf - ePub
  • Language : English
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Summary:

Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.