Towards Mechanism Based Treatments For Fragile X Syndrome
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Towards Mechanism Based Treatments For Fragile X Syndrome
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Author : Daman Kumari
language : en
Publisher: MDPI
Release Date : 2019-09-18
Towards Mechanism Based Treatments For Fragile X Syndrome written by Daman Kumari and has been published by MDPI this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-09-18 with Science categories.
It has been more than 25 years since the identification of the FMR1 gene and the demonstration of the causative role of CGG-repeat expansion in the disease pathology of fragile X syndrome (FXS), but the underlying mechanisms involved in the expansion mutation and the resulting gene silencing still remain elusive. Our understanding of the pathways impacted by the loss of FMRP function has grown tremendously, and has opened new avenues for targeted treatments for FXS. However, the failure of recent clinical trials that were based on successful preclinical studies using the Fmr1 knockout mouse model has forced the scientific community to revisit clinical trial design and identify objective outcome measures. There has also been a renewed interest in restoring FMR1 gene expression as a possible treatment approach for FXS. This special issue of Brain Sciences highlights the progress that has been made towards understanding the disease mechanisms and how this has informed the development of treatment strategies that are being explored for FXS.
Wong S Nursing Care Of Infants And Children E Book
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Author : Marilyn J. Hockenberry
language : en
Publisher: Elsevier Health Sciences
Release Date : 2022-12-23
Wong S Nursing Care Of Infants And Children E Book written by Marilyn J. Hockenberry and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-12-23 with Medical categories.
**American Journal of Nursing (AJN) Book of the Year Awards, 1st Place in Child Health**Provide quality nursing care through each stage of child development! Wong's Nursing Care of Infants and Children, 12th Edition uses an easy-to-follow, family-centered approach to describe the care of children at each age and stage of development. The book begins with a discussion of the influences on and assessment of child health, then provides chapters on child health promotion and health problems — all organized by age groups and body systems. Up-to-date, evidence-based information helps you develop critical thinking skills along with the sensitivity needed to become a compassionate, caring pediatric nurse. Written by a team of experts led by Marilyn J. Hockenberry, Wong's continues to be the leading text in pediatric nursing. - Focus on family-centered care emphasizes the role and influence of the family in child health and illness with a separate chapter and Family-Centered Care boxes. - Full-color drawings and photographs reflect the latest in nursing care. - Nursing Care Guidelines boxes offer clear, step-by-step instructions for interventions in a variety of situations and conditions, and Nursing Care Plan boxes included expected patient outcomes and rationales for nursing interventions. - Nursing Tips include helpful hints and practical, clinical information. - Translating Evidence into Practice and Applying Evidence to Practice boxes help you apply research to improve the outcomes of nursing care. - Atraumatic Care boxes contain techniques for care that manage pain, discomfort, or stress, along with approaches to promote self-esteem and prevent embarrassment. - Emergency Treatment boxes serve as a quick reference for interventions in critical situations. - Cultural Considerations and Cultural Competence content provides tips from clinical experts. - Community and Home Health Considerations boxes address issues such as increasing immunization rates, decreasing smoking among teens, and preventing lead poisoning. - Drug Alerts highlight important drug-related information for safe, appropriate care. - Nursing Alerts call out critical considerations such as key assessment data, risk factors, and danger signs that must be considered in providing care. - Research Focus boxes emphasize research with concise reviews of important evidence.
The Fragile X Associated Tremor Ataxia Syndrome Fxtas
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Author : Flora Tassone
language : en
Publisher: Springer Science & Business Media
Release Date : 2010-06-02
The Fragile X Associated Tremor Ataxia Syndrome Fxtas written by Flora Tassone and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-06-02 with Medical categories.
In Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), the editors present information on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed. The book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments.
Towards Mechanism Based Treatments For Fragile X Syndrome
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Author : Inbal Gazy
language : en
Publisher:
Release Date : 2019
Towards Mechanism Based Treatments For Fragile X Syndrome written by Inbal Gazy and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019 with Electronic books categories.
It has been more than 25 years since the identification of the FMR1 gene and the demonstration of the causative role of CGG-repeat expansion in the disease pathology of fragile X syndrome (FXS), but the underlying mechanisms involved in the expansion mutation and the resulting gene silencing still remain elusive. Our understanding of the pathways impacted by the loss of FMRP function has grown tremendously, and has opened new avenues for targeted treatments for FXS. However, the failure of recent clinical trials that were based on successful preclinical studies using the Fmr1 knockout mouse model has forced the scientific community to revisit clinical trial design and identify objective outcome measures. There has also been a renewed interest in restoring FMR1 gene expression as a possible treatment approach for FXS. This special issue of Brain Sciences highlights the progress that has been made towards understanding the disease mechanisms and how this has informed the development of treatment strategies that are being explored for FXS.
Swaiman S Pediatric Neurology E Book
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Author : Kenneth F. Swaiman
language : en
Publisher: Elsevier Health Sciences
Release Date : 2017-03-16
Swaiman S Pediatric Neurology E Book written by Kenneth F. Swaiman and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-03-16 with Medical categories.
Since 1975, Dr. Kenneth Swaiman's classic text has been the reference of choice for authoritative guidance in pediatric neurology, and the 6th Edition continues this tradition of excellence with thorough revisions that bring you fully up to date with all that's new in the field. Five new sections, 62 new chapters, 4 new editors, and a reconfigured format make this a comprehensive and clearly-written resource for the experienced clinician as well as the physician-in-training. - Nearly 3,000 line drawings, photographs, tables, and boxes highlight the text, clarify key concepts, and make it easy to find information quickly.
Fragile X Syndrome
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Author : Fabrizio Stasolla
language : en
Publisher: Nova Science Publishers
Release Date : 2022
Fragile X Syndrome written by Fabrizio Stasolla and has been published by Nova Science Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022 with Education categories.
Fragile X syndrome is an inherited disease caused by an excessive length of the FMR protein due to mutations in the FMR1 gene located on the X chromosome. It is commonly described as one of the most common genetic diseases with autism-like behaviours and related developmental disabilities. Beside intellectual delays, behavioural problems, and communication difficulties, mood disorders usually occur. Diagnosis is based on laboratory tests and DNA results. Phenotypes including long and narrow face, large ears, hyper-arched palate, flat feet, ataxia, seizures, anxiety, aggression, and hand-related stereotypic behaviours are frequently observed. Although there is no specific cure, early interventions are highly encouraging, promising, and recommended. Pharmacological treatments may be combined with behavioural and/or cognitive behavioural interventions. Recently, assistive technology-based programs have been implemented. This volume includes seven chapters and addresses the newest advances in the diagnosis and treatment of individuals with Fragile X syndrome. Chapter One encompasses the molecular features and pathological bases of the disease. A comprehensive literature overview was conducted. The role of the FMR protein was emphasized although few studies evaluated its function. Chapter Two deals with the neuropsychiatric symptoms related to the syndrome. A complete conceptual framework was exhaustively detailed. Chapter Three emphasizes the role of pharmacotherapy in the treatment of Fragile X syndrome. A further literature review was carried out. Clinical relevance was outlined. Chapter Four provides the reader with a conceptual analysis. Besides molecular features, brain development was described. Challenging behaviours were included and the importance of the early combined intervention was critically discussed. Chapters Five, Six, and Seven detailed three case reports on the effectiveness and the suitability of assistive technology-based interventions. Specifically, Chapter Five argued for microswitch-cluster technology focused on pursuing the dual simultaneous goal of promoting an adaptive response (i.e., object manipulation) and reducing a challenging behaviour (i.e., hand mouthing). Chapter Six describes a combined microswitch and VOCA program useful to ensure the participant has the choice between independent access to positive stimulation and asking for social interaction. Finally, Chapter Seven includes choice opportunities through an assistive technology-mediated program involving a boy with Fragile X in a functional task. Targeted readers (i.e., caregivers, clinicians, speech therapists, professionals, psychologists, neurologists, parents of children with Fragile X syndrome, teachers) may find interesting and stimulating tips and insights for daily use in clinical research and practice, with the dual objective of diagnosis and treatment.
Health Care For People With Intellectual And Developmental Disabilities Across The Lifespan
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Author : I. Leslie Rubin
language : en
Publisher: Springer
Release Date : 2016-04-25
Health Care For People With Intellectual And Developmental Disabilities Across The Lifespan written by I. Leslie Rubin and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-04-25 with Medical categories.
This book provides a broad overview of quality health care for people with intellectual and developmental disabilities (IDD). It focuses on providing the reader a practical approach to dealing with the health and well-being of people with IDD in general terms as well as in dealing with specific conditions. In addition, it offers the reader a perspective from many different points of view in the health care delivery system as well as in different parts of the world. This is the 3rd , and much expanded edition, of a text that was first published in 1989 (Lea and Fibiger). The second edition was published in 2006 (Paul Brookes) and has been used as a formal required text in training programs for physicians, nurses and nurse practitioners as well as by administrators who are responsible for programs serving people with IDD. This book is considered the “Bible” in the field of health care for people with IDD since 1989 when the first edition came out.
Genetic Disorders And The Fetus
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Author : Aubrey Milunsky
language : en
Publisher: John Wiley & Sons
Release Date : 2015-09-21
Genetic Disorders And The Fetus written by Aubrey Milunsky and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-09-21 with Medical categories.
Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline-leading text that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years. The seventh edition continues the long-established tradition of excellence that has become synonymous with this text. The book builds on the foundations of preconception and prenatal genetic counseling and the original pillars of prenatal diagnosis while also providing authoritative coverage of exciting developments in non-invasive genetic testing and rapidly developing molecular techniques, including microarray analysis and next generation sequencing, that are revolutionizing the field. Chapters are once again authored by internationally recognized authorities in the field of prenatal diagnosis. The editors have added three entirely new chapters to this edition to complement the complete revision of existing content. The three new chapters focus on non-invasive prenatal screening, placental genetics, and the psychology of prenatal and perinatal grief. The broad-ranging coverage and international scope will ensure that the new edition maintains its role as the major repository for information on all aspects of prenatal diagnosis. The editors have brought together an invaluable collection of evidence-based facts bolstered by knowledge and decades of experience in the field. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 7th Edition is a timely update to this world-leading text.
Neural And Synaptic Defects In Autism Spectrum Disorders
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Author : Hansen Wang
language : en
Publisher: Frontiers Media SA
Release Date : 2015-07-07
Neural And Synaptic Defects In Autism Spectrum Disorders written by Hansen Wang and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-07-07 with Neurosciences. Biological psychiatry. Neuropsychiatry categories.
Autism spectrum disorders (ASDs) are a group of genetically and clinically heterogeneous neurodevelopmental disorders characterized by impaired reciprocal social interactions and communication, and restricted and repetitive patterns of behaviors and interests. Studies in genetics, neurobiology and systems biology are providing insights into the pathogenesis of ASDs. Investigation of neural and synaptic defects in ASDs not only sheds light on the molecular and cellular mechanisms that govern the function of the central nervous system, but may lead to the discovery of potential therapeutic targets for autism and other cognitive disorders. Our Research Topic which constitutes this e-book documents the recent development and ideas in the study of pathogenesis and treatment of ASDs, with an emphasis on syndromic disorders such as fragile X and Rett syndromes. In addition, model systems and methodological approaches with translational relevance to autism are covered herein. We hope that the Research Topic will enhance the global knowledge base in the autism research community and foster new research directions in autism related biology.
Fragile X Syndrome
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Author : Rob Willemsen
language : en
Publisher: Academic Press
Release Date : 2017-05-26
Fragile X Syndrome written by Rob Willemsen and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-05-26 with Medical categories.
Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of the disorder as well as treatment options. The book discusses the detailed molecular information on each of the pathways involved with sufficient details for all whose research touches this pathway. It provides a state-of-the-art update on all clinical aspects associated with this syndrome, including phenotype, diagnostics and epidemiology. It also includes an overview of the lessons learned from the preclinical research and pioneering trials on the fragile X syndrome for the investigators involved in clinical trials of neurodevelopmental disorders. This book is written for academic researchers, pharmaceutical investigators, and clinicians in the field who work on the disorder, and for researchers involved in clinical trials of the fragile X syndrome or related disorders. "This fascinating book, edited by Rob Willemsen and Frank Kooy, summarizes the current knowledge of the molecular aspects of fragile X syndrome (FXS), andthe potential for therapies resulting from this knowledge...Particularly interesting is a review "fragile X research from a parental perspective, which summarizes the results of an international survey of the attitudes of families with FXS relatives towards research...This book is also an essential reference book for genetic counselors...The book provides counselors with the necessary biological background for proper explanations to the relatives of FXS patients. Many parents acquire a substantial knowledge of the conditions afflicting their children. The book will be helpful for both families and counselors to manage the expectations of families participating in clinical trials...In conclusion, this book is essential for everyone who is involved in the diagnosis and treatment of FXS patients. - European Journal of Human Genetics (September 2018) - Provides a comprehensive overview of the molecular genetics, clinical trials, and treatment of Fragile X Syndrome - Written for academic researchers, pharmaceutical investigators, and clinicians in the field - Edited by international leaders in the field who have contributed greatly to the study of Fragile X Syndrome - Directs the reader through complex issues surrounding FXS and draws the literature together for researchers and clinicians