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Spinal Muscular Atrophy
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 dev...
Background and Management of Muscular Atrophy
A healthy skeletal musculature is necessary for a good quality of life and is important in sports. The loss of skeletal muscle mass leads to severe clinical complications and alters daily functioning. The aim of this book is to give an overview of skeletal muscle atrophy including pathomechanism, clinical characters, and the tools for prevention and treatment. Skeletal muscle atrophy can develop due to neurogenic or myogenic reasons, and frequently appears as an age-dependent disorder (sarcopenia). The studies of theoretical background give promising perspectives to prevent and treat muscle atrophy. The book is recommended to scientists, practitioners, students, sportsmen, and everybody who is interested in the normal and impaired function of the skeletal muscle.
Muscle Atrophy
The book addresses the development of muscle atrophy, which can be caused by denervation, disuse, excessive fasting, aging, and a variety of diseases including heart failure, chronic kidney diseases and cancers. Muscle atrophy reduces quality of life and increases morbidity and mortality worldwide. The book is divided into five parts, the first of which describes the general aspects of muscle atrophy including its characteristics, related economic and health burdens, and the current clinical therapy. Secondly, basic aspects of muscle atrophy including the composition, structure and function of skeletal muscle, muscle changes in response to atrophy, and experimental models are summarized. Thi...
It's One of Them!
Grace Saunders and her brother Ben were both born with the genetic disorder spinal muscular atrophy type 2/3, SMA. From her happy childhood growing up in Hertfordshire, enduring painful operations, to becoming a mom and a wife living an independent life in Coventry. Her extraordinary story of strength, not only coping with a severe physical disability, but being victim to domestic violence. Grace's story also involves drugs, murder, the police investigation that was Operation Ore and the death of her brother, aged thirty. This is a woman's struggle for a normal life, independence, and remarkably, having a healthy baby girl when she was told she would never be able to have children. She coped many years, being a single mother with the help of her family and personal care assistants. She writes about her education, care, and funny stories about the world of Internet dating. She tells her story with, honesty, humor, and heartfelt emotion, Grace shares the highs and lows she has faced and has come out the other side, although a little bruised, stronger than ever, and still smiling. Grace's attitude to the life she has been dealt with is, as she says, "It's One of Them "
The Role of Muscle and Nerve in Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA) is the leading genetic cause of infant death, affecting approximately 1 in 10,000 live births worldwide. SMA is caused due to decrease in levels of the ubiquitous Survival Motor Neuron (SMN) protein. SMN in humans is encoded by two genes SMN1 and SMN2. SMA is an autosomal recessive disease caused due to deletion or mutation of SMN1 and retention of SMN2. Due to a C to T change in SMN2, the gene produces only small amounts of full-length SMN protein. In SMA patients, the low levels of SMN lead to degeneration of motor neurons and muscle atrophy. Since SMA is characterized by muscle atrophy, blocking of muscle ubiquitin ligases that degrade sarcomeric proteins is a prospective therapy. We deleted two muscle-specific ubiquitin ligases, MAFbx and MuRF1, in severe SMA mice. Deletion of MAFbx did not improve the phenotype or survival of SMA mice, and MuRF1 deletion in the SMA mice turned out to be deleterious. MAFbx and MuRF1 levels are upregulated in the skeletal and cardiac muscle in SMA. We conclude that deletion of muscle ubiquitin ligases in SMA does not improve the phenotype of SMA mice.
Advances in Muscular Atrophy Research and Treatment: 2012 Edition
Advances in Muscular Atrophy Research and Treatment / 2012 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Muscular Atrophy in a concise format. The editors have built Advances in Muscular Atrophy Research and Treatment / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Muscular Atrophy in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Advances in Muscular Atrophy Research and Treatment / 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Spinal Muscular Atrophy: New Insights for the Healthcare Professional: 2012 Edition
Spinal Muscular Atrophy: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Spinal Muscular Atrophy in a compact format. The editors have built Spinal Muscular Atrophy: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Spinal Muscular Atrophy in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Spinal Muscular Atrophy: New Insights for the Healthcare Professional / 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Spinal Muscular Atrophy: A Patients Journey
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...
Spinal Muscular Atrophy: New Insights for the Healthcare Professional: 2011 Edition
Spinal Muscular Atrophy: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Spinal Muscular Atrophy in a compact format. The editors have built Spinal Muscular Atrophy: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Spinal Muscular Atrophy in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Spinal Muscular Atrophy: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Atlas of Skeletal Muscle Pathology
With the advent of enzyme histochemistry, which this field and simplistic theories will be expanded or revealed hitherto unseen pathological differences discarded. between muscle disorders, muscle biopsy assumed Diseased muscle cells, as any other cell type, show an important diagnostic role. The investigation is easily only limited morphological changes. However bizarre, performed and is being undertaken with increasing very few of these changes, if any, are pathognomonic of frequency. Nevertheless there is still a tendency to a single disease. The exact significance of microscopic regard its interpretation as highly specialized and out findings is to a large extent determined by their clin...
