December 3, 2020

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Spinal Muscular Atrophy

Spinal Muscular Atrophy
Author : Charlotte J Sumner,Sergey Paushkin,Chien-Ping Ko
Publisher : Academic Press
Release Date : 2016-10-24
Category : Medical
Total pages :506
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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

Neurodegeneration

Neurodegeneration
Author : Ted M. Dawson
Publisher : John Wiley & Sons
Release Date : 2017-04-24
Category : Medical
Total pages :344
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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

Spinal Muscular Atrophy: A Patients Journey

Spinal Muscular Atrophy: A Patients Journey
Author : Shruti Kumar
Publisher : Unknown
Release Date : 2017
Category :
Total pages :129
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Spinal Muscular Atrophy Background: Spinal Muscular Atrophy (SMA) is a rare, autosomal recessive, progressive, neurodegenerative disorder due to a genetic defect in SMN1 which, codes for the SMN protein- vital for motor neuron function. Subsequently, this leads to loss of anterior horn cell function in the spinal cord which manifests as multisystem skeletal muscle atrophy. Typically, proximal muscle weakness occurs first, however, once pulmonary musculature is affected, it leads to respiratory compromise and ultimately death. Case Description: We present two cases of SMA Type I, first, of a 6-month-old boy who presented with respiratory failure on a family background of two previous siblings having unfortunately passed away due to the same. The second, of a 4-month-old male infant that presented in clinic with profound hypotonia and feeding concerns, who was then diagnosed with SMA Type I during his admission. Our discussion will include, initial presentation, investigation, diagnosis and management of the cases. In addition, we will discuss the therapeutic benefit of Nusinersen in the aforementioned cases, which has been approved in December 2016 for the treatment of SMA. Conclusion: We present these two cases as albeit, this is a rare degenerative disorder, it is vital to diagnose early and requires prompt multi-disciplinary team management. We would further, like to focus on the impact of Nusinersen, and how it has revolutionised the management of this disease. Topic: Paediatric, Neurologyu200b.

Neuromuscular Disorders of Infancy, Childhood, and Adolescence

Neuromuscular Disorders of Infancy, Childhood, and Adolescence
Author : Basil T. Darras,H. Royden Jones, Jr.,Monique M. Ryan,Darryl C. De Vivo
Publisher : Elsevier
Release Date : 2014-12-03
Category : Medical
Total pages :1160
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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

Newborn Screening for Spinal Muscular Atrophy

Newborn Screening for Spinal Muscular Atrophy
Author : Furyal Sultana Mahmood
Publisher : Unknown
Release Date : 2019
Category : Genetic disorders
Total pages :80
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Spinal Muscular Atrophy (SMA) is a genetic condition in which patients experience ongoing muscle weakness and degradation due to dying motor neurons in the spinal cord and brain stem. Previously, SMA was thought to be a poor candidate for state newborn screening panels because of the lack of an available treatment option, however, the first ever FDA-approval of a treatment for SMA has since renewed conversations to consider including SMA on newborn screening. In this study, an online survey was completed by 265 licensed, U.S. healthcare providers in order to analyze their perspectives regarding newborn screening for SMA. The majority of providers (87%) were in favor of a newborn screening program for SMA, and the remainder were either largely undecided (12%) or not in favor (1%). Primary reasons for support were the belief that identifying SMA at birth would extend the life expectancy of type I and II SMA patients, increase the quality of life for type I, II, and III SMA patients, enable parents to make informed decisions about future pregnancies, and that it would positively impact healthcare providers, patient-treatment protocols, and parents and families of type I, II, II, and IV SMA patients. While this study demonstrates that healthcare providers are largely in favor of a newborn screening program for SMA, it also demonstrates that providers believe that patients who have earlier onset forms of SMA (type I and II) will be more positively impacted by this type of program as compared to those with later, or adult onset forms of SMA (type III and IV).

Contribution of the Immune System and Astrocytes to Spinal Muscular Atrophy Pathology

Contribution of the Immune System and Astrocytes to Spinal Muscular Atrophy Pathology
Author : Marie-Therese Khairallah
Publisher : Unknown
Release Date : 2018
Category :
Total pages :117
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Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease and the leading genetic cause of infant mortality. SMA is caused by afunctional loss of the survival motor neuron-1 (SMN1) gene and the subsequent deficiency of the ubiquitously expressed survival motor neuron (SMN) protein. SMA presents by motor neuron loss and muscle atrophy, and historically was considered an autonomous disease of the a-lower motor neuron (LMN). In this work we investigated effects of low levels of SMN outside the LMNs. Specifically, we looked in the spleen to determine the impact of SMN deficiency on the spleen development and the integrity of the splenic immune cells. Additionally, we analyzed astrocytes to determine if they exhibit functional impairments that could compromise their role in supporting the survival and function of LMNs. First, we reported spleen hypoplasia in multiple SMA mouse models with alteration of the splenic architecture due to a severe reduction in the red pulp zone and relative conservation of the white pulp area. We found alterations in the relative abundance of splenic mediators of the immune response, where the resident macrophage subset was depleted starting at early pre-symptomatic time (post-natal day 2), whereas the B- and T-lymphocytes, and CD11b+ macrophages had higher frequency at the late symptomatic age (post-natal day 12). Secondly, we showed that primary astrocytes derived from the spinal cord of a SMA mouse model had compromised efficiency in their glutamate uptake capacity. Moreover, SMA spinal cords had altered expression in the level of flottilin-1, a lipid raft protein necessary for cell membrane integrity and for the function of receptors and transporters. Furthermore, we showed a higher expression of the NR2B, a subunit of the glutamate receptor NMDAR that signals mainly toward apoptosis. In summary, this work characterized new pathologies in two non-neuronal tissues in the CNS and in the periphery, demonstrated that the spleen and the immune system are likely contributing to the overall clinical pathology of SMA, and found altered mechanisms in astrocytes function that might explain their effect on LMNs in SMA.

Dawn of a New Therapeutic Era for Spinal Muscular Atrophy

Dawn of a New Therapeutic Era for Spinal Muscular Atrophy
Author : Anonim
Publisher : Unknown
Release Date : 2016
Category :
Total pages :129
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Reversing Distal Spinal Muscular Atrophy Type 1 Naturally the Raw Vegan Plant-Based Detoxification & Regeneration Workbook for Healing Patients

Reversing Distal Spinal Muscular Atrophy Type 1 Naturally the Raw Vegan Plant-Based Detoxification & Regeneration Workbook for Healing Patients
Author : Health Central
Publisher : Raw Power
Release Date : 2019
Category :
Total pages :106
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A truly resourceful and supporting workbook which will help you reach your health goals in a short space of time. A Must Have!

Neurodegenerative Diseases

Neurodegenerative Diseases
Author : Uday Kishore
Publisher : BoD – Books on Demand
Release Date : 2013-05-15
Category : Medical
Total pages :640
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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.

Reversing Distal Spinal Muscular Atrophy Type 2

Reversing Distal Spinal Muscular Atrophy Type 2
Author : Health Central
Publisher : Raw Power
Release Date : 2019
Category :
Total pages :106
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A truly resourceful and supporting workbook which will help you reach your health goals in a short space of time. A Must Have!

Reversing Distal Spinal Muscular Atrophy Type 1

Reversing Distal Spinal Muscular Atrophy Type 1
Author : Health Central
Publisher : Raw Power
Release Date : 2019
Category :
Total pages :106
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A truly resourceful and supporting workbook which will help you reach your health goals in a short space of time. A Must Have!

Congenital Segmental Spinal Muscular Atrophy

Congenital Segmental Spinal Muscular Atrophy
Author : Anonim
Publisher : Unknown
Release Date : 2015
Category :
Total pages :129
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Spinal muscular atrophies are genetic disorders in which anterior horn cells in the spinal cord and motor nuclei of the brainstem are progressively lost. We present a patient with arthrogryposis due to congenital spinal muscular atrophy predominantly affecting the upper limbs. Spinal muscular atrophies with onset at birth may be a cause of arthrogryposis. Localized forms of neurogenic arthrogryposis have been divided into cervical and caudal forms. Our case is similar to the cases described by Hageman et al ( J Neurol Neurosurg Psychiatry 1993;56:365-368): severe symmetric lower motor neuron deficit in the upper extremities at the time of birth, no history of injury to the cervical spinal cord or the brachial plexus during delivery, and severe muscle wasting suggesting chronic denervation in utero. Because there was improvement of our patient's situation, her disease was also possibly nonprogressive and sporadic. To our knowledge, this is the first reported case of a Turkish patient with congenital cervical spinal muscular atrophy. Congenital cervical spinal muscular atrophy affecting predominantly the upper limbs is a relatively rare form of motor neuron disease and should be considered in the differential diagnosis of infants with congenital contractures and severe muscle weakness by wasting mainly confined to the upper limbs.

Identification and Characterization of Spinal Muscular Atrophy (SMA) Modifiers - Insight from Cellular and Vertebrate Disease Models

Identification and Characterization of Spinal Muscular Atrophy (SMA) Modifiers - Insight from Cellular and Vertebrate Disease Models
Author : Svenja Schneider
Publisher : Unknown
Release Date : 2018
Category :
Total pages :129
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Laughing at My Nightmare

Laughing at My Nightmare
Author : Shane Burcaw
Publisher : Roaring Brook Press
Release Date : 2014-10-14
Category : Young Adult Nonfiction
Total pages :256
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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.