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Spinal Muscular Atrophy

Spinal Muscular Atrophy
Disease Mechanisms and Therapy

by Charlotte J Sumner,Sergey Paushkin,Chien-Ping Ko

  • Publisher : Academic Press
  • Release : 2016-10-24
  • Pages : 506
  • ISBN : 0128036869
  • Language : En, Es, Fr & De
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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

Spinal Muscular Atrophy

Spinal Muscular Atrophy
Disease Mechanisms and Therapy

by Charlotte J. Sumner

  • Publisher : Academic Press
  • Release : 2016-11-01
  • Pages : 525
  • ISBN : 9780128036853
  • Language : En, Es, Fr & De
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"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 developmentWritten to bridge multiple disciplines and promote better communications among basic scientists, clinical researchers, and health care providers on the latest developments in SMAIncludes outstanding questions and perspectives for future investigations and key references for additional detailed study

Spinal Muscular Atrophy

Spinal Muscular Atrophy
Disease Mechanisms and Therapy

by Charlotte J. Sumner,Sergey Paushkin,Chien-Ping Ko

  • Publisher : Unknown Publisher
  • Release : 2017
  • Pages : 474
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Neurodegeneration

Neurodegeneration
A Book

by Ted M. Dawson

  • Publisher : John Wiley & Sons
  • Release : 2017-04-24
  • Pages : 344
  • ISBN : 0470672684
  • Language : En, Es, Fr & De
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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

Neuromuscular Disorders of Infancy, Childhood, and Adolescence

Neuromuscular Disorders of Infancy, Childhood, and Adolescence
A Clinician's Approach

by Basil T. Darras,H. Royden Jones, Jr.,Monique M. Ryan,Darryl C. De Vivo

  • Publisher : Elsevier
  • Release : 2014-12-03
  • Pages : 1160
  • ISBN : 0124171273
  • Language : En, Es, Fr & De
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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

Molecular and Cellular Therapies for Motor Neuron Diseases

Molecular and Cellular Therapies for Motor Neuron Diseases
A Book

by Nicholas M Boulis,Deirdre O’Connor,Anthony Donsante

  • Publisher : Academic Press
  • Release : 2017-01-18
  • Pages : 336
  • ISBN : 0128025247
  • Language : En, Es, Fr & De
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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

Acutely ill infant

Acutely ill infant
A Book

by Sics Editore

  • Publisher : SICS Editore
  • Release : 2014-10-01
  • Pages : 329
  • ISBN : 886930129X
  • Language : En, Es, Fr & De
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Signs and symptoms are often difficult to interpret in infants, so a complete examination must always be conducted. An infant may present with only a few signs even when seriously ill. The younger the infant, the more likely it is that the illness is serious and will require hospitalization. In practice, 3 months may be considered as the cut off point; particular vigilance should be exercised if the infant is less than 1 month old.Listen to the parents. A detailed history will guide the doctor more quickly towards the right diagnosis, and unnecessary investigations need not be carried out.An afebrile infant with good muscle tone, who feeds well and shows satisfactory growth is rarely seriously ill.If the general condition of the infant is reduced, make an emergency referral for further care in a hospital.

Laughing at My Nightmare

Laughing at My Nightmare
A Book

by Shane Burcaw

  • Publisher : Roaring Brook Press
  • Release : 2014-10-14
  • Pages : 256
  • ISBN : 1626720088
  • Language : En, Es, Fr & De
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With acerbic wit and a hilarious voice, Shane Burcaw's Laughing at My Nightmare describes the challenges he faces as a twenty-one-year-old with spinal muscular atrophy. From awkward handshakes to having a girlfriend and everything in between, Shane handles his situation with humor and a "you-only-live-once" perspective on life. While he does talk about everyday issues that are relatable to teens, he also offers an eye-opening perspective on what it is like to have a life threatening disease.

Genetic Neuromuscular Disorders

Genetic Neuromuscular Disorders
A Case-Based Approach

by Corrado Angelini

  • Publisher : Springer
  • Release : 2014-08-22
  • Pages : 384
  • ISBN : 3319075004
  • Language : En, Es, Fr & De
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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.

Ethics, Conflict and Medical Treatment for Children E-Book

Ethics, Conflict and Medical Treatment for Children E-Book
From disagreement to dissensus

by Dominic Wilkinson,Julian Savulescu

  • Publisher : Elsevier Health Sciences
  • Release : 2018-08-05
  • Pages : 192
  • ISBN : 0702077828
  • Language : En, Es, Fr & De
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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.

Practical Guide to Neurogenetics E-Book

Practical Guide to Neurogenetics E-Book
A Book

by Thomas T. Warner,Simon R. Hammans

  • Publisher : Elsevier Health Sciences
  • Release : 2008-11-04
  • Pages : 344
  • ISBN : 0702038458
  • Language : En, Es, Fr & De
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This simple guide to neurogenetics demystifies the overwhelming amount of information on the subject so you can identify key clinical features and understand your management options. Reach relevant differential diagnoses and provide appropriate counseling to your patients using the symptom-based approach. By integrating genetic and neurological approaches to diagnoses, this book ensures that the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis are clear and explicit. Concise and portable, this book is ideal for easy reference in clinical use. Details the underlying basic science and clinical features of genetic disorders by taking a symptom-based approach to provide you with a comprehensive understanding of the field. Focuses on the clinical application of neurogenetics to be of practical use to you in the clinic. Clarifies the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis by integrating genetic and neurological approaches to diagnoses. Discusses and evaluates necessary investigations so you know when to use them and when to refer. Highlights diagnostic and therapeutic tips so you can learn new concepts or refine your skills in practice. Refers to online sources, such as Online Mendelian Inheritance in Man (OMIM) and others, to help you supplement your knowledge.

30 Day Journal & Tracker

30 Day Journal & Tracker
Reversing Distal Spinal Muscular Atrophy Type 1: The Raw Vegan Plant-Based Detoxification & Regeneration Journal & Tracker for Healing. Journal 1

by Health Formation

  • Publisher : Unknown Publisher
  • Release : 2020-01-04
  • Pages : 62
  • ISBN : 9781655712807
  • Language : En, Es, Fr & De
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After relentlessly studying the teachings of legendary healers, such as Dr Arnold Ehret and Dr Robert Morse, we set out on a journey of healing ourselves and reversing our very own conditions. Within our group, we were suffering from a range of diverse diseases and conditions, including Heart Disease, Kidney Disease, Diabetes, a variety of Autoimmune Diseases and Leaky Gut. During our healing journeys, we formed a journal that we would use on a daily basis, and this helped us to incorporate all of the lessons and tips that we had learnt and refined along the way - in short, it acted as a check list. It was important to us to not miss out on any knowledge and practices that had served us well. This journal is designed to guide and support you through your own journey with the core healing protocols included within its theme. One of the key conclusions that we reached through our individual journeys was that whether you are a sufferer of Distal Spinal Muscular Atrophy Type 1, or any other condition, the same protocol that we used applies. However, dependant on the severity of your Distal Spinal Muscular Atrophy Type 1, you may need to follow the protocols for longer, using specific herbs in order to achieve positive results, but you can make your own adjustments as you learn more. The great news is that all information and resources are readily available for personal study and application. Dr Arnold Ehret's books can be downloaded freely if you search for "arnold ehret books pdf". Visit rawfigs.com for Dr Robert Morse videos which can be searched through by keywords via the search bar. With this journal and your newly acquired knowledge, we trust that you will also soon start to experience the positive results that we did, along with the many others that send us regular positive feedback. We wish you all the best. The Health Formation Team

Management of Genetic Syndromes

Management of Genetic Syndromes
A Book

by Suzanne B. Cassidy,Judith E. Allanson

  • Publisher : John Wiley & Sons
  • Release : 2011-09-20
  • Pages : 984
  • ISBN : 1118210670
  • Language : En, Es, Fr & De
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The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

Smasheroo

Smasheroo
A Book

by Hania Myers,Jennifer Trust for SMA.

  • Publisher : Unknown Publisher
  • Release : 2011
  • Pages : 329
  • ISBN : 9780956657824
  • Language : En, Es, Fr & De
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RNA Metabolism in Neurodegenerative Diseases

RNA Metabolism in Neurodegenerative Diseases
A Book

by Rita Sattler,Christopher J. Donnelly

  • Publisher : Springer
  • Release : 2018-06-18
  • Pages : 310
  • ISBN : 331989689X
  • Language : En, Es, Fr & De
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It has become evident over the last years that abnormalities in RNA processing play a fundamental part in the pathogenesis of neurodegenerative diseases. Cellular viability depends on proper regulation of RNA metabolism and subsequent protein synthesis, which requires the interplay of many processes including transcription, pre--‐mRNA splicing, mRNA editing as well as mRNA stability, transport and translation. Dysfunction in any of these processes, often caused by mutations in the coding and non--‐ coding RNAs, can be very destructive to the cellular environment and consequently impair neural viability. The result of this RNA toxicity can lead to a toxic gain of function or a loss of function, depending on the nature of the mutation. For example, in repeat expansion disorders, such as the newly discovered hexanucleotide repeat expansion in theC9orf72 gene found in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), a toxic gain of function leads to the formation of RNA foci and the sequestration of RNA binding proteins (RBPs). This in return leads to a loss of function of those RBPs, which is hypothesized to play a significant part in the disease progression of ALS and FTD. Other toxicities arising from repeat expansions are the formation of RNA foci, bi--‐directional transcription and production of repeat associated non--‐ATG (RAN) translation products. This book will touch upon most of these disease mechanisms triggered by aberrant RNA metabolism and will therefore provide a broad perspective of the role of RNA processing and its dysfunction in a variety of neurodegenerative disorders, including ALS, FTD, Alzheimer’s disease, Huntington’s disease, spinal muscular atrophy, myotonic dystrophy and ataxias. The proposed authors are leading scientists in the field and are expected to not only discuss their own work, but to be inclusive of historic as well as late breaking discoveries. The compiled chapters will therefore provide a unique collection of novel studies and hypotheses aimed to describe the consequences of altered RNA processing events and its newest molecular players and pathways.

Non-Idiopathic Spine Deformities in Young Children

Non-Idiopathic Spine Deformities in Young Children
A Book

by Muharrem Yazici

  • Publisher : Springer Science & Business Media
  • Release : 2011-07-21
  • Pages : 175
  • ISBN : 9783642194177
  • Language : En, Es, Fr & De
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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.

Not So Different

Not So Different
What You Really Want to Ask About Having a Disability

by Shane Burcaw

  • Publisher : Roaring Brook Press
  • Release : 2017-11-07
  • Pages : 40
  • ISBN : 1250197880
  • Language : En, Es, Fr & De
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Not So Different offers a humorous, relatable, and refreshingly honest glimpse into Shane Burcaw’s life. Shane tackles many of the mundane and quirky questions that he’s often asked about living with a disability, and shows readers that he’s just as approachable, friendly, and funny as anyone else. Shane Burcaw was born with a rare disease called spinal muscular atrophy, which hinders his muscles’ growth. As a result, his body hasn’t grown bigger and stronger as he’s gotten older—it’s gotten smaller and weaker instead. This hasn’t stopped him from doing the things he enjoys (like eating pizza and playing sports and video games) with the people he loves, but it does mean that he routinely relies on his friends and family for help with everything from brushing his teeth to rolling over in bed. A Chicago Public Library Best Book of 2017

NORD Guide to Rare Disorders

NORD Guide to Rare Disorders
A Book

by National Organization for Rare Disorders

  • Publisher : Lippincott Williams & Wilkins
  • Release : 2003
  • Pages : 895
  • ISBN : 9780781730631
  • Language : En, Es, Fr & De
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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.

Developmental Neuropathology

Developmental Neuropathology
A Book

by Homa Adle-Biassette,Brian N. Harding,Jeffrey A. Golden

  • Publisher : John Wiley & Sons
  • Release : 2018-04-30
  • Pages : 560
  • ISBN : 1119013089
  • Language : En, Es, Fr & De
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A definitive, clinically oriented guide to the pathology of genetics of developmental neuropathology Developmental neuropathology relates to the wide range of disorders affecting the developing brain or pre- and post-natal life, with emphasis on the genetic and molecular mechanisms involved. This book provides a practical guide to diagnosing and understanding these disorders affecting this vulnerable population and potentially stimulates further advances in this exciting area. It also addresses the controversies in inflicted head injury in infants. The fourth major title to be approved by the International Society of Neuropathology (ISN), Developmental Neuropathology offers in-depth chapter coverage of brain development; chromosomal changes; malformations; secondary malformations and destructive pathologies; developmental vascular disorders; acquired metabolic and exogenous toxins; metabolic disorders; Rett syndrome and autism; and infectious diseases. The text provides: Clinical, disease-oriented approach to the pathology and genetics developmental neuropathology Fuses classical and contemporary investigative approaches Includes genetic and molecular biological pathogeneses Fully illustrated Approved and endorsed by International Society of Neuropathology Developmental Neuropathology is the perfect book for practicing neuropathologists, pediatric pathologists, general pathologists, neurologists, and geneticists in deciphering the pathology and pathogenesis of these complex disorders affecting the nervous system of the embryo, fetus, and child.

30 Day Journal and Tracker: Reversing Spinal Muscular Atrophy with Respiratory Distress Type 1

30 Day Journal and Tracker: Reversing Spinal Muscular Atrophy with Respiratory Distress Type 1
The Raw Vegan Plant-Based Detoxification and Regeneration Journal and Tracker for Healing. Journal 1

by Health Formation

  • Publisher : Unknown Publisher
  • Release : 2020-02-09
  • Pages : 61
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
GET BOOK

After relentlessly studying the teachings of legendary healers, such as Dr Arnold Ehret and Dr Robert Morse, we set out on a journey of healing ourselves and reversing our very own conditions. Within our group, we were suffering from a range of diverse diseases and conditions, including Heart Disease, Kidney Disease, Diabetes, a variety of Autoimmune Diseases and Leaky Gut. During our healing journeys, we formed a journal that we would use on a daily basis, and this helped us to incorporate all of the lessons and tips that we had learnt and refined along the way - in short, it acted as a check list. It was important to us to not miss out on any knowledge and practices that had served us well. This journal is designed to guide and support you through your own journey with the core healing protocols included within its theme. One of the key conclusions that we reached through our individual journeys was that whether you are a sufferer of Spinal Muscular Atrophy With Respiratory Distress Type 1, or any other condition, the same protocol that we used applies. However, dependant on the severity of your Spinal Muscular Atrophy With Respiratory Distress Type 1, you may need to follow the protocols for longer, using specific herbs in order to achieve positive results, but you can make your own adjustments as you learn more. The great news is that all information and resources are readily available for personal study and application. Dr Arnold Ehret's books can be downloaded freely if you search for "arnold ehret books pdf". Visit rawfigs.com for Dr Robert Morse videos which can be searched through by keywords via the search bar. With this journal and your newly acquired knowledge, we trust that you will also soon start to experience the positive results that we did, along with the many others that send us regular positive feedback. We wish you all the best. The Health Formation Team