Spinal Muscular Atrophy Book

Spinal Muscular Atrophy


  • Author : Charlotte J Sumner
  • Publisher : Academic Press
  • Release Date : 2016-10-24
  • Genre: Medical
  • Pages : 506
  • ISBN 10 : 9780128036860

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Spinal Muscular Atrophy Excerpt :

Spinal Muscular Atrophy: Disease Mechanisms and Therapy provides the latest information on a condition that is characterized by motoneuron loss and muscle atrophy, and is the leading genetic cause of infant mortality. Since the identification of the gene responsible for SMA in 1995, there have been important advances in the basic understanding of disease mechanisms, and in therapeutic development. This book provides a comprehensive accounting of recent advances in basic and clinical research that covers SMA clinical features and standards of care, multifaceted aspects of SMN protein functions and SMA disease pathology, various animal models, and biomarkers, as well as current therapeutic development. This title is ideal for graduate students/postdocs and principal investigators who are already in the SMA field and need to keep updated on recent findings and approaches, and for those who are new to, or would like to join, the field. Likewise, users will find an excellent source of reading for biotech/pharma scientists, clinical researchers, and practitioners, regulators, and patients and their advocacy organizations. Furthermore, this book is a handy reference for researchers and clinicians who may want to apply the research strategies and therapeutic approaches in SMA to other rare diseases. Provides comprehensive, up-to-date reviews by leading investigators on diverse topics of SMA, including clinical features and patient care, SMN genetics and protein functions, animal models, disease pathology and mechanisms, biomarkers, current therapeutic development, and the role of non-profit organizations in therapeutic development Written to bridge multiple disciplines and promote better communications among basic scientists, clinical researchers, and health care providers on the latest developments in SMA Includes outstanding questions and perspectives for future investigations and key references for additional detailed study

Neurodegeneration Book

Neurodegeneration


  • Author : Anthony Schapira
  • Publisher : John Wiley & Sons
  • Release Date : 2017-04-24
  • Genre: Medical
  • Pages : 344
  • ISBN 10 : 9780470672686

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Neurodegeneration Excerpt :

This book unites the diverse range of complex neurodegenerative diseases into a textbook designed for clinical practice, edited by globally leading authorities on the subject. Presents a clinically oriented guide to the diseases caused by neurodegeneration Templated chapters combine clinical and research information on neurodegenerative diseases beginning with the common elements before treating each disease individually Diseases are grouped by anatomical regions of degeneration and include common disorders such as Parkinson’s Disease, Alzheimer’s Disease, Amyotrophic Lateral Sclerosis/Motor Neuron Disease, and Multiple Sclerosis as well as less common diseases Edited by globally leading authorities on the subject, and written by expert contributing authors

Neurodegenerative Diseases Book

Neurodegenerative Diseases


  • Author : Uday Kishore
  • Publisher : BoD – Books on Demand
  • Release Date : 2013-05-15
  • Genre: Medical
  • Pages : 642
  • ISBN 10 : 9789535110880

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Neurodegenerative Diseases Excerpt :

This book highlights the pathophysiological complexities of the mechanisms and factors that are likely to be involved in a range of neuroinflammatory and neurodegenerative diseases including Alzheimer's disease, other Dementia, Parkinson Diseases and Multiple Sclerosis. The spectrum of diverse factors involved in neurodegeneration, such as protein aggregation, oxidative stress, caspases and secretase, regulators, cholesterol, zinc, microglia, astrocytes, oligodendrocytes, etc, have been discussed in the context of disease progression. In addition, novel approaches to therapeutic interventions have also been presented. It is hoped that students, scientists and clinicians shall find this very informative book immensely useful and thought-provoking.

Molecular and Cellular Therapies for Motor Neuron Diseases Book

Molecular and Cellular Therapies for Motor Neuron Diseases


  • Author : Nicholas M Boulis
  • Publisher : Academic Press
  • Release Date : 2017-01-18
  • Genre: Psychology
  • Pages : 336
  • ISBN 10 : 9780128025246

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Molecular and Cellular Therapies for Motor Neuron Diseases Excerpt :

Molecular and Cellular Therapies for Motor Neuron Diseases discusses the basics of the diseases, also covering advances in research and clinical trials. The book provides a resource for students that will help them learn the basics in a detailed manner that is required for scientists and clinicians. Users will find a comprehensive overview of the background of Amyotrophic Lateral Sclerosis (ALS/Lou Gehrig’s Disease) and Spinal Muscular Atrophy (SMA), along with the current understanding of their genetics and mechanisms. In addition, the book details gene and cell therapies that have been developed and their translation to clinical trials. Provides an overview of gene and cell therapies for amyotrophic lateral sclerosis (ALS) and other motor neuron diseases Edited by a leading Neurosurgeon and two research scientists to promote synthesis between basic neuroscience and clinical relevance Presents a great resource for researchers and practitioners in neuroscience, neurology, and gene and cell therapy

Cassidy and Allanson s Management of Genetic Syndromes Book

Cassidy and Allanson s Management of Genetic Syndromes


  • Author : John C. Carey
  • Publisher : John Wiley & Sons
  • Release Date : 2021-01-27
  • Genre: Science
  • Pages : 1104
  • ISBN 10 : 9781119432678

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Cassidy and Allanson s Management of Genetic Syndromes Excerpt :

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.

Developmental Neuropathology Book

Developmental Neuropathology


  • Author : Reinhard L. Friede
  • Publisher : Springer Science & Business Media
  • Release Date : 2012-12-06
  • Genre: Medical
  • Pages : 577
  • ISBN 10 : 9783642736971

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Developmental Neuropathology Excerpt :

I was gratified by the most favorable reception and wide usage received by the first edition of this book. A decade seems to be a short period for a book on pathology, and yet it witnessed many important changes of concepts, along with a formidable growth of knowledge. The second edition required extensive reorganization. There are new chapters on mitochondriopathies, on peroxisomal diseases and on spongy myelino pathies. Major revisions and new additions were necessary in many chapters, for instance those on the dysplasias of the cerebral and of the cerebellar hemispheres, which were largely reorganized. The chapters on perinatal pathology were reordered and reorganized to give a more logical sequence of prenatal, perinatal and postnatal lesions. The entire text was worked over for brevity. A wealth of new references was added with the. aim of staying abreast with the literature up to summer 1988. All refer ences were double checked for errors. My gratitude goes to Mrs. Gisela Ropte and Mrs. Cynthia Bunker for their untiring, diligent help. As a result, this second edition is an essentially rewritten text. Advance in the prevention of human suffering is based on a thorough understand ing of the nature of disease. I hope that this text will continue to be of service in this behalf. Perhaps it may also reflect and foster the intellectual curiosity which makes the "reading of brains" so interesting an occupation. Gottingen, 1989 Reinhard L.

NORD Guide to Rare Disorders Book
Score: 3
From 1 Ratings

NORD Guide to Rare Disorders


  • Author : National Organization for Rare Disorders
  • Publisher : Lippincott Williams & Wilkins
  • Release Date : 2003
  • Genre: Medical
  • Pages : 982
  • ISBN 10 : 0781730635

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NORD Guide to Rare Disorders 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.

Ethics  Conflict and Medical Treatment for Children E Book Book

Ethics Conflict and Medical Treatment for Children E Book


  • Author : Dominic Wilkinson
  • Publisher : Elsevier Health Sciences
  • Release Date : 2018-08-05
  • Genre: Medical
  • Pages : 192
  • ISBN 10 : 9780702077821

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Ethics Conflict and Medical Treatment for Children E Book Excerpt :

What should happen when doctors and parents disagree about what would be best for a child? When should courts become involved? Should life support be stopped against parents’ wishes? The case of Charlie Gard, reached global attention in 2017. It led to widespread debate about the ethics of disagreements between doctors and parents, about the place of the law in such disputes, and about the variation in approach between different parts of the world. In this book, medical ethicists Dominic Wilkinson and Julian Savulescu critically examine the ethical questions at the heart of disputes about medical treatment for children. They use the Gard case as a springboard to a wider discussion about the rights of parents, the harms of treatment, and the vital issue of limited resources. They discuss other prominent UK and international cases of disagreement and conflict. From opposite sides of the debate Wilkinson and Savulescu provocatively outline the strongest arguments in favour of and against treatment. They analyse some of the distinctive and challenging features of treatment disputes in the 21st century and argue that disagreement about controversial ethical questions is both inevitable and desirable. They outline a series of lessons from the Gard case and propose a radical new ‘dissensus’ framework for future cases of disagreement. This new book critically examines the core ethical questions at the heart of disputes about medical treatment for children. The contents review prominent cases of disagreement from the UK and internationally and analyse some of the distinctive and challenging features around treatment disputes in the 21st century. The book proposes a radical new framework for future cases of disagreement around the care of gravely ill people.

Genetic Neuromuscular Disorders Book

Genetic Neuromuscular Disorders


  • Author : Corrado Angelini
  • Publisher : Springer
  • Release Date : 2017-10-05
  • Genre: Medical
  • Pages : 433
  • ISBN 10 : 9783319564548

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Genetic Neuromuscular Disorders Excerpt :

This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. This collection of neuromuscular disorders features the differential 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.

Muscle Disorders in Childhood Book

Muscle Disorders in Childhood


  • Author : Victor Dubowitz
  • Publisher : Bailliere Tindall Limited
  • Release Date : 1995
  • Genre: Medical
  • Pages : 540
  • ISBN 10 : UOM:39015034424625

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Muscle Disorders in Childhood Excerpt :

This reference focuses on the clinical assessment, diagnosis, management, and prognosis of all forms of muscle diseases that affect children. Includes a readable account of relevant genetics, biochemistry, and molecular biology, in addition to numerous case histories. Unique personal experience of a world authority Highly practical reference for the clinician with clear guidance of how to assess, diagnose and manage Valuable case histories included Text describing each disorder is enhanced by inclusion of outstanding clinical pictures of patients plus relevant histology of muscle tissue Author provides a easy-to-understand account of the relevant genetics, biochemistry and molecular biology

Neuromuscular Disorders Book

Neuromuscular Disorders


  • Author : Satish V. Khadilkar
  • Publisher : Springer
  • Release Date : 2017-12-28
  • Genre: Medical
  • Pages : 534
  • ISBN 10 : 9789811053610

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Neuromuscular Disorders 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.

Exon Skipping and Inclusion Therapies Book

Exon Skipping and Inclusion Therapies


  • Author : Toshifumi Yokota
  • Publisher : Humana Press
  • Release Date : 2018-09-01
  • Genre: Medical
  • Pages : 569
  • ISBN 10 : 1493986503

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Exon Skipping and Inclusion Therapies Excerpt :

This book presents a comprehensive collection of detailed state-of-the-art exon skipping and splices modulation protocols. Chapters detail 14 genetic diseases, AON-mediated therapies, and CRISPR/Cas9-mediated gene editing therapies. 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 cutting-edge, Exon Skipping and Inclusion Therapies: Methods and Protocols aims to help researchers initiate the development of next-generation therapies.

Cases in Pediatric Acute Care Book

Cases in Pediatric Acute Care


  • Author : Andrea Kline-Tilford
  • Publisher : John Wiley & Sons
  • Release Date : 2020-03-30
  • Genre: Medical
  • Pages : 528
  • ISBN 10 : 9781119568209

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Cases in Pediatric Acute Care Excerpt :

Cases in Pediatric Acute Care presents over 100 real-world pediatric acute care cases, each including a brief patient history, a detailed history of present illness, presenting signs and symptoms, vital signs, and physical examination findings. Ideal for developing a systematic approach to diagnosis, evaluation, and treatment, this resource provides students and advanced practitioners with the tools required to deliver comprehensive care to acute, chronic and critically ill children. The cases encompass a wide range of body systems, medical scenarios, professional issues and general pediatric concerns, and feature laboratory data, radiographic images and information on case study progression and resolution. Develops the essential skills necessary to provide the best possible pediatric acute care Discusses the most appropriate differential diagnoses, diagnostic evaluation, and management plans for each case Presents cases related to pulmonary, cardiac, neurologic, endocrine, metabolic, musculoskeletal, and other body systems Highlights key points in each case to quickly identify critical information Cases in Pediatric Acute Care is an excellent resource for advanced practice provider students and pediatric healthcare providers managing acutely ill children.

Searching For Every Step  Finding Purpose in Living With Spinal Muscular Atrophy Book

Searching For Every Step Finding Purpose in Living With Spinal Muscular Atrophy


  • Author : Kurt E. Beach
  • Publisher : Beach Publishing LLC
  • Release Date : 2021-10-15
  • Genre: Biography & Autobiography
  • Pages : 208
  • ISBN 10 : 0578971976

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Searching For Every Step Finding Purpose in Living With Spinal Muscular Atrophy Excerpt :

This inspiring memoir tells the story of a young man who is diagnosed with spinal muscular atrophy-a rare muscular disease-at a young age. In Searching for Every Step, author Kurt Beach offers his insight on the steps he took to find his true purpose in life. In his memoir, Beach recalls the steps and missteps he took in order to manage his bout with SMA and how this rare condition played a part in many decisions he made throughout his life. Despite his rare circumstances, his struggles are struggles we all face. Through his condition, he finds the courage and strength to overcome physical, emotional, and social obstacles concerning his career aspirations, schooling, romantic relationships, and even adoption. During a life changing event, Beach finds what he is missing in life. This experience not only shows him what kind of strength he has but what his true purpose in life is. Searching for Every Step delivers wisdom and inspiration to anyone who has struggled through life and gives them the inspiration to shift their focus away from their troubles and toward a more positive, faith-driven life

Consults in Obstetric Anesthesiology Book

Consults in Obstetric Anesthesiology


  • Author : Suzanne K. W. Mankowitz
  • Publisher : Springer
  • Release Date : 2018-11-15
  • Genre: Medical
  • Pages : 699
  • ISBN 10 : 9783319596808

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Consults in Obstetric Anesthesiology Excerpt :

This text addresses the need for a book specifically aimed at obstetric anesthesia and covers topics such as pulmonary, cardiac renal, hepatic, hematologic, neurologic, endocrine and other diseases. The real anesthetic challenge arises when patients present to Labor and Delivery with unusual or complicated medical problems and, in recent years, a few of the larger institutions have developed an Obstetric Anesthesiology Consultation Service to prepare for the management of these patients. While most pregnant women who present to Labor and Delivery require anesthetic intervention, they typically meet the anesthesiologist for the first time in labor. Since the majority of laboring women are healthy without significant comorbidities, this does not present much of a challenge to the anesthesiologist and the anesthetic management tends to be straight-forward with favorable outcomes. However, using this new model, the anesthesiologist has the opportunity to discuss the various treatment modalities and potentially suggest diagnostic testing to be performed prior to delivery, similar to the pre-operative testing that is done in other surgical environments.