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The Genetic Basis Of Frontotemporal Dementia Amyotrophic Lateral Sclerosis And Cystic Fibrosis
Download The Genetic Basis Of Frontotemporal Dementia Amyotrophic Lateral Sclerosis And Cystic Fibrosis full books in PDF, epub, and Kindle. Read online The Genetic Basis Of Frontotemporal Dementia Amyotrophic Lateral Sclerosis And Cystic Fibrosis ebook anywhere anytime directly on your device. Fast Download speed and no annoying ads. We cannot guarantee that every ebooks is available!
Book Synopsis THE GENETIC BASIS OF FRONTOTEMPORAL DEMENTIA, AMYOTROPHIC LATERAL SCLEROSIS AND CYSTIC FIBROSIS by : Frederico Simu00f5es Couto
Download or read book THE GENETIC BASIS OF FRONTOTEMPORAL DEMENTIA, AMYOTROPHIC LATERAL SCLEROSIS AND CYSTIC FIBROSIS written by Frederico Simu00f5es Couto and published by . This book was released on 2017 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Objectives:Non-systematic literature review on the eventual relationship between frontotemporal dementia (FTD) with amyotrophic lateral sclerosis (ALS) and cystic fibrosis (CF).Background:The literature suggests that FTD and ALS share a common genetic background. A positive family history is present in about 30% of patients with FTD and in 5% of those with ALS.The authors report and discuss the clinical case of a 59-years-old male patient diagnosed with a behavior variant of FTD and ALS, who have a family history of dementia of unknown etiology in his mother and CF diagnosed in his daughter.Materials and Methods:The research strategy on the Pubmed database considered the keywords u201cfrontotemporal dementiau201d, u201camyotrophic lateral sclerosisu201d and u201ccystic fibrosisu201d. The selection of the articles was based on critical appraisal of the literature published between 2014 and 2019. Results and Conclusions:The most common genetic findings in patients with DFT and ALS are in C9ORF72 gene, and less frequently in the TARDBP and FUS/TLS genes. Although the relation between DFT with ALS and CF is not described, some authors suggest a common pathway between ALS and CF through the presence of modifications on TDP-43 protein that is encoded by the mutated TARDBP gene. Interestingly, the genetic study performed did not reveal any mutation in the studied genes, including the TARDBP one.Not all genetic findings involved in FTD, ALS and CF are identified and the relationship between those entities should be clarified. To the best of our knowledge, this is the first clinical case that considers this eventual genetic association.
Book Synopsis Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia by : Henry Houlden
Download or read book Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia written by Henry Houlden and published by Frontiers Media SA. This book was released on 2021-06-28 with total page 141 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Assessing the Genetic Overlap in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia by : Oriol Dols Icardo
Download or read book Assessing the Genetic Overlap in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia written by Oriol Dols Icardo and published by . This book was released on 2018 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: There are overwhelming evidences that amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are part of a clinical, pathological and genetic continuum. The C9orf72 repeat expansion is the most common genetic defect among ALS/FTD patients. Besides, the use of next generation sequencing technologies has launched a new era in the study of human diseases. These approaches have unraveled an unprecedented amount of genes associated with both ALS and FTD. This work focuses on the study of the genetic overlap in the ALS/FTD spectrum. In this context, we have studied the C9orf72 expansion mutation in ALS and FTD patients. Also, we have assessed the role of CHCHD10 and TUBA4A, two genes recently found to cause ALS, in Spanish patients with ALS and/or FTD. Finally, we have performed whole-exome sequencing in ALS/FTD patients without the C9orf72 expansion mutation to study the genetic profile of these cases free from the most common genetic defect related to these neurodegenerative disorders.
Book Synopsis Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease by : Roger N. Rosenberg
Download or read book Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Elsevier. This book was released on 2014-10-28 with total page 1465 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations
Book Synopsis The Molecular and Genetic Basis of Neurologic and Psychiatric Disease by : Roger N. Rosenberg
Download or read book The Molecular and Genetic Basis of Neurologic and Psychiatric Disease written by Roger N. Rosenberg and published by Butterworth-Heinemann. This book was released on 2003 with total page 898 pages. Available in PDF, EPUB and Kindle. Book excerpt: Inside the third edition of this reference, the reader will find thorough and authoritative discussions of all of these developments and their implications for clinical practice. It includes a major new section on Psychiatric Diseases; descriptions of the molecular and genetic basis of the spongiform encephalopathies as well as the expression of the prion gene under physiologic and pathologic conditions; additional coverage examines the human genome project and neurologic disease; and coverage on alzheimer's disease and related dementias.
Book Synopsis Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias by : Michael J. Strong
Download or read book Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias written by Michael J. Strong and published by Oxford University Press. This book was released on 2012-10-11 with total page 426 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book summarizes the advances in our understanding of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), as well as the potential relationship between the two.
Book Synopsis Translational Research in Traumatic Brain Injury by : Daniel Laskowitz
Download or read book Translational Research in Traumatic Brain Injury written by Daniel Laskowitz and published by CRC Press. This book was released on 2016-04-21 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: Traumatic brain injury (TBI) remains a significant source of death and permanent disability, contributing to nearly one-third of all injury related deaths in the United States and exacting a profound personal and economic toll. Despite the increased resources that have recently been brought to bear to improve our understanding of TBI, the developme
Book Synopsis Robbins & Cotran Pathologic Basis of Disease E-Book by : Vinay Kumar
Download or read book Robbins & Cotran Pathologic Basis of Disease E-Book written by Vinay Kumar and published by Elsevier Health Sciences. This book was released on 2009-06-10 with total page 1465 pages. Available in PDF, EPUB and Kindle. Book excerpt: One of the best-selling medical textbooks of all time, Robbins and Cotran Pathologic Basis of Disease is the one book that nearly all medical students purchase, and is also widely used by physicians worldwide. A "who's who" of pathology experts delivers the most dependable, current, and complete coverage of today's essential pathology knowledge. At the same time, masterful editing and a practical organization make mastering every concept remarkably easy. The result remains the ideal source for an optimal understanding of pathology. Offers the most authoritative and comprehensive, yet readable coverage available in any pathology textbook, making it ideal for USMLE or specialty board preparation as well as for course work. Delivers a state-of-the-art understanding of the pathologic basis of disease through completely updated coverage, including the latest cellular and molecular biology. Demonstrates every concept visually with over 1,600 full-color photomicrographs and conceptual diagrams - many revised for even better quality. Facilitates learning with an outstanding full-color, highly user-friendly design.
Book Synopsis Alternative Splicing and Disease by : Philippe Jeanteur
Download or read book Alternative Splicing and Disease written by Philippe Jeanteur and published by Springer Science & Business Media. This book was released on 2006-10-04 with total page 265 pages. Available in PDF, EPUB and Kindle. Book excerpt: Splicing of primary RNA transcript is a quasi-systematic step of gene expression in higher organisms. This is the first book to highlight the medical implications, i.e. diseases, caused by alternative splicing. Alternative splicing not only vastly increases protein diversity but also offers numerous opportunities for aberrant splicing events with pathological consequences. The book also outlines possible targets for therapy.
Book Synopsis Progressive Brain Disorders in Childhood by : Juan M. Pascual
Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
Book Synopsis RNA Metabolism in Neurodegenerative Diseases by : Rita Sattler
Download or read book RNA Metabolism in Neurodegenerative Diseases written by Rita Sattler and published by Springer. This book was released on 2018-06-18 with total page 321 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Robbins and Cotran Pathologic Basis of Disease, Professional Edition E-Book by : Vinay Kumar
Download or read book Robbins and Cotran Pathologic Basis of Disease, Professional Edition E-Book written by Vinay Kumar and published by Elsevier Health Sciences. This book was released on 2009-06-10 with total page 1465 pages. Available in PDF, EPUB and Kindle. Book excerpt: One of the best-selling medical textbooks of all time, Robbins and Cotran Pathologic Basis of Disease is the one book you likely purchased as a medical student that still provides answers now that you're in practice. The new PROFESSIONAL EDITION is the same "who's who" of pathology experts that delivers the most dependable, current, and complete coverage of today's essential pathology knowledge, now enhanced with PERKS DESIGNED SPECIALLY FOR YOU AS A PRACTITIONER. Masterful editing and a practical organization make learning or reinforcing every concept remarkably easy. The result remains the ideal source for an optimal understanding of pathology at its core. Offers the most authoritative and comprehensive, yet readable coverage available in any pathology textbook, making it ideal for USMLE or specialty board preparation as well as for course work
Book Synopsis Neural Dynamics of Neurological Disease by : Christopher A. Shaw
Download or read book Neural Dynamics of Neurological Disease written by Christopher A. Shaw and published by John Wiley & Sons. This book was released on 2017-02-15 with total page 475 pages. Available in PDF, EPUB and Kindle. Book excerpt: The emerging understanding of age-related neurological disorders suggests that notions of a single causal gene/toxin being responsible is likely incorrect. Neurological disorders probably arise due to a unique intersection of multiple genetic and toxic factors, combined with additional contributions of age, stage of development, immune system actions, and more. This perspective leads to the view that rather than reflecting only one pathway to end-state disease, each is a spectrum disorder, and every individual case is therefore unique. Neural Dynamics of Neurological Disease argues for a fundamental rethinking of what we think we know about neurological disorders, how they arise and progress, and, crucially, what might be done to "cure" them. It first introduces the concept of neural dynamics of neurological disease, then examines various diseases and gives examples of the interplay of elements such as neural systems, cell types, and biochemical pathways that can contribute to disease. The concluding chapters point the way to how the emerging notion of neurological disease as a dynamic process may lead to more successful treatment options. Providing a cross-disciplinary approach to understanding the origin and progression of neurological disease, Neural Dynamics of Neurological Disease is a timely and valuable resource for neuroscientists, researchers, and clinicians.
Book Synopsis Amyotrophic Lateral Sclerosis in Veterans by : Institute of Medicine
Download or read book Amyotrophic Lateral Sclerosis in Veterans written by Institute of Medicine and published by National Academies Press. This book was released on 2006-10-27 with total page 62 pages. Available in PDF, EPUB and Kindle. Book excerpt: Amyotrophic lateral sclerosis (ALS) our Lou Gehrig's disease is a fatal, mostly non-familial disease that affects the nervous system of humans by causing the degeneration of nerve cells in the brain and spinal cord. The degeneration halts communication between the nervous system and voluntary muscles in the body. This leads to muscle paralysis and eventually the muscles that aid in breathing are affect; causing respiration to fail. The disease, which affects 20,000-30,000 men and women in the United States at any given time, has no effective treatment; most people with ALS die from respiratory failure within 5 years of the onset of symptoms. Recent epidemiologic studies report an association between the development of ALS and prior service in the U.S. military. The studies evaluated either veterans of the 1991 Persian Gulf War or veterans who served in the military in the period 1910-1982. Due to these findings, the Department of Veterans Affairs (VA) asked the National Academies to conduct an assessment of the potential relationship between military service and the later development of ALS. The project was assigned to the Institute of Medicine (IOM), which appointed a committee and gave it the task of evaluating the scientific literature on ALS in veterans. The committee began its work by identifying medical and scientific literature on ALS. PubMed, a database created and managed by the National Library of Medicine. Amyotrophic Lateral Sclerosis in Veterans; Review of the Scientific Literature presents the findings of this committee. The committee reviewed, evaluated, and summarized the scientific literature on ALS in veterans, composed primarily of peer-reviewed, published literature. This report includes the recommendations of the committee.
Book Synopsis Organelle Contact Sites by : Mitsuo Tagaya
Download or read book Organelle Contact Sites written by Mitsuo Tagaya and published by Springer. This book was released on 2017-08-16 with total page 254 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides the first comprehensive coverage of the quickly evolving research field of membrane contact sites (MCS). A total of 16 chapters explain their organization and role and unveil the significance of MCS for various diseases. MCS, the intracellular structures where organellar membranes come in close contact with one another, mediate the exchange of proteins, lipids, and ions. Via these functions, MCS are critical for the survival and the growth of the cell. Owing to that central role in the functioning of cells, MCS dysfunctions lead to important defects of human physiology, influence viral and bacterial infection, and cause disease such as inflammation, type II diabetes, neurodegenerative disorders, and cancer. To approach such a multifaceted topic, this volume assembles a series of chapters dealing with the full array of research about MCS and their respective roles for diseases. Most chapters also introduce the history and the state of the art of MCS research, which will initiate discussion points for the respective types of MCS for years to come. This work will appeal to all cell biologists as well as researchers on diseases that are impacted by MCS dysfunction. Additionally, it will stimulate graduate students and postdocs who will energize, drive, and develop the research field in the near future.
Author :Agency for Healthcare Research and Quality/AHRQ Publisher :Government Printing Office ISBN 13 :1587634333 Total Pages :385 pages Book Rating :4.5/5 (876 download)
Book Synopsis Registries for Evaluating Patient Outcomes by : Agency for Healthcare Research and Quality/AHRQ
Download or read book Registries for Evaluating Patient Outcomes written by Agency for Healthcare Research and Quality/AHRQ and published by Government Printing Office. This book was released on 2014-04-01 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: This User’s Guide is intended to support the design, implementation, analysis, interpretation, and quality evaluation of registries created to increase understanding of patient outcomes. For the purposes of this guide, a patient registry is an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves one or more predetermined scientific, clinical, or policy purposes. A registry database is a file (or files) derived from the registry. Although registries can serve many purposes, this guide focuses on registries created for one or more of the following purposes: to describe the natural history of disease, to determine clinical effectiveness or cost-effectiveness of health care products and services, to measure or monitor safety and harm, and/or to measure quality of care. Registries are classified according to how their populations are defined. For example, product registries include patients who have been exposed to biopharmaceutical products or medical devices. Health services registries consist of patients who have had a common procedure, clinical encounter, or hospitalization. Disease or condition registries are defined by patients having the same diagnosis, such as cystic fibrosis or heart failure. The User’s Guide was created by researchers affiliated with AHRQ’s Effective Health Care Program, particularly those who participated in AHRQ’s DEcIDE (Developing Evidence to Inform Decisions About Effectiveness) program. Chapters were subject to multiple internal and external independent reviews.
Book Synopsis Insights into Human Neurodegeneration: Lessons Learnt from Drosophila by : Mousumi Mutsuddi
Download or read book Insights into Human Neurodegeneration: Lessons Learnt from Drosophila written by Mousumi Mutsuddi and published by Springer Nature. This book was released on 2019-12-05 with total page 470 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is aimed at generating an updated reservoir of scientific endeavors undertaken to unravel the complicated yet intriguing topic of neurodegeneration. Scientists from Europe, USA and India who are experts in the field of neurodegenerative diseases have contributed to this book. This book will help readers gain insight into the recent knowledge obtained from Drosophila model, in understanding the molecular mechanisms underlying neurodegenerative disorders and also unravel novel scopes for therapeutic interventions. Different methodologies available to create humanized fly models that faithfully reflects the pathogenicities associated with particular disorders have been described here. It also includes information on the exciting area of neural stem cells. A brief discussion on neurofibrillary tangles, precedes the elaborate description of lessons learnt from Drosophila about Alzheimer's, Parkinson’s, Spinomuscular Atrophy, Huntington’s diseases, RNA expansion disorders and Hereditary Spastic Paraplegia. We have concluded the book with the use of Drosophila for identifying pharmacological therapies for neurodegenerative disorders. The wide range of topics covered here will not only be relevant for beginners who are new to the concept of the extensive utility of Drosophila as a model to study human disorders; but will also be an important contribution to the scientific community, with an insight into the paradigm shift in our understanding of neurodegenerative disorders. Completed with informative tables and communicative illustrations this book will keep the readers glued and intrigued. We have comprehensively anthologized the lessons learnt on neurodegeneration from Drosophila and have thus provided an insight into the multidimensional aspects of pathogenicities of majority of the neurodegenerative disorders.
