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Proceedings Of The Fourth International Conference Of Fmr1 Premutation Basic Mechanisms Clinical Involvement And Therapy
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Book Synopsis Proceedings of the "Fourth International Conference of FMR1 Premutation: Basic Mechanisms, Clinical Involvement and Therapy" by : Cecilia Giulivi
Download or read book Proceedings of the "Fourth International Conference of FMR1 Premutation: Basic Mechanisms, Clinical Involvement and Therapy" written by Cecilia Giulivi and published by Frontiers Media SA. This book was released on 2021-06-29 with total page 140 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis The Fragile X Syndrome by : Kay E. Davies
Download or read book The Fragile X Syndrome written by Kay E. Davies and published by Oxford University Press, USA. This book was released on 1989 with total page 150 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new book is an up-to-date review of the clinical, epidemiological, and cytogenetic aspects of the fragile X (Martin-Bell) syndrome--the most common genetic cause of mental retardation after Down syndrome. The book includes the latest research findings concerning diagnosis on the basis of the appearance of a fragile site in cultured lymphocytes. It assumes little prior knowledge of the subject, and provides a clearly written, easy-to-understand discussion previously unavailable in a single reference source. The book will be of special interest to molecular biologists, cytogeneticists, medical geneticists, and clinicians and other professionals working with the mentally handicapped.
Book Synopsis Fragile X Syndrome by : Randi Jenssen Hagerman
Download or read book Fragile X Syndrome written by Randi Jenssen Hagerman and published by . This book was released on 1996 with total page 481 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition of Fragile X Syndrome includes updated information on the latest research findings -- especially in molecular biology -- as well as new photographs highlighting clinical features and thorough coverage of treatment and intervention, diagnosis, and research. Praise for the first edition: "Answers nearly all the questions that parents or clinicians might raise about fragile X syndrome....Can be recommended confidently as a thoroughly up-to-date, reliable, and informative account of the condition." -- Lancet "The clinical and cytogenetic material in this book is excellent and provides a strong background for physicians and students... Fragile X Syndrome still presents the best comprehensive treatment of this complex disorder. Physicians, students, and other interested professionals can either read this book from cover to cover or select the chapters that interest or apply to them." -- New England Journal of Medicine
Book Synopsis FXTAS, FXPOI, and Other Premutation Disorders by : Flora Tassone
Download or read book FXTAS, FXPOI, and Other Premutation Disorders written by Flora Tassone and published by Springer. This book was released on 2016-11-17 with total page 296 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOI 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. The book will present information on all aspects of FXTAS, FXPOI and other premutation disorders 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.
Book Synopsis Common Pitfalls in Cognitive and Behavioral Neurology by : Keith Josephs
Download or read book Common Pitfalls in Cognitive and Behavioral Neurology written by Keith Josephs and published by . This book was released on 2020 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: "Case: This 68-year-old right-handed man was evaluated after an episode of delirium. Three months prior, in the span of two days, he became confused and agitated. At the hospital, he was found to have a urinary tract infection (UTI). Within three days after treatment, he returned to his baseline cognitive function and remained stable since. Although he initially reported no cognitive problems, upon further questioning he acknowledged word-finding difficulties and forgetfulness for at least the previous 2 years. His daughter reported that he repeated questions and stories"--
Download or read book Research on Women's Health written by and published by . This book was released on 1997 with total page 84 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Pediatric Board Study Guide by : Osama Naga
Download or read book Pediatric Board Study Guide written by Osama Naga and published by Springer. This book was released on 2015-03-27 with total page 611 pages. Available in PDF, EPUB and Kindle. Book excerpt: Covers the most frequently asked and tested points on the pediatric board exam. Each chapter offers a quick review of specific diseases and conditions clinicians need to know during the patient encounter. Easy-to-use and comprehensive, clinicians will find this guide to be the ideal final resource needed before taking the pediatric board exam.
Book Synopsis Handbook of Developmental Disabilities by : Samuel L. Odom
Download or read book Handbook of Developmental Disabilities written by Samuel L. Odom and published by Guilford Press. This book was released on 2009-01-21 with total page 673 pages. Available in PDF, EPUB and Kindle. Book excerpt: This authoritative handbook reviews the breadth of current knowledge about developmental disabilities: neuroscientific and genetic foundations; the impact on health, learning, and behavior; and effective educational and clinical practices. Leading authorities analyze what works in intervening with diverse children and families, from infancy through the school years and the transition to adulthood. Chapters present established and emerging approaches to promoting communication and language abilities, academic skills, positive social relationships, and vocational and independent living skills. Current practices in positive behavior support are discussed, as are strategies for supporting family adaptation and resilience.
Book Synopsis Towards Mechanism-based Treatments for Fragile X Syndrome by : Daman Kumari
Download or read book Towards Mechanism-based Treatments for Fragile X Syndrome written by Daman Kumari and published by MDPI. This book was released on 2019-09-18 with total page 250 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Concepts and Principles of Pharmacology by : James E. Barrett
Download or read book Concepts and Principles of Pharmacology written by James E. Barrett and published by Springer Nature. This book was released on 2019-12-24 with total page 457 pages. Available in PDF, EPUB and Kindle. Book excerpt: Celebrating 100 years of HEP, this volume will discuss key pharmacological discoveries and concepts of the past 100 years. These discoveries have dramatically changed the medical treatment paradigms of many diseases and these concepts have and will continue to shape discovery of new medicinies. Newly evolving technologies will similarly be discussed as they will shape the future of the pharmacology and, accordingly, medical therapy.
Book Synopsis Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability by : Carlo Sala
Download or read book Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability written by Carlo Sala and published by Academic Press. This book was released on 2016-04-30 with total page 396 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals communicate and relate to others and their surroundings. In addition, three quarters of ASD patients also manifest severe intellectual disability. Though certain genes have been implicated, ASDs remain largely a mystery, and research looking into causes and cellular deficits are crucial for better understanding of neurodevelopmental disorders. Despite the prevalence and insidious nature of this disorder, this book remains to be an extensive resource of information and background on the state of current research in the field. The book serves as a reference for this purpose, and discusses the crucial role synaptic activity plays in proper brain function. In addition, the volume discusses the neurodevelopmental synaptopathies and serves as a resource for scientists and clinicians in all biomedical science specialties. This research has been crucial for recent studies that have provided a rationale for the development of pharmacological agents able to counteract functional synaptic anomalies and potentially ameliorate some ASD symptoms. - Introduces the genetic and non-genetic causes of autism and associated intellectual disabilities - Describes the genes implicated in autistic spectrum disorders and their function - Considers major individual genetic causes of autism, Rett syndrome, Fragile X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies - Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology in vitro and in vivo, including animal models and patient-derived stem cell culture
Book Synopsis White Matter Dementia by : Christopher M. Filley
Download or read book White Matter Dementia written by Christopher M. Filley and published by Cambridge University Press. This book was released on 2016-04-28 with total page 231 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presenting the novel concept of white matter dementia, this unique book offers hope for a better understanding and treatment of dementia.
Book Synopsis Clues in the Diagnosis of Non-tumoral Testicular Pathology by : Manuel Nistal
Download or read book Clues in the Diagnosis of Non-tumoral Testicular Pathology written by Manuel Nistal and published by Springer. This book was released on 2017-03-07 with total page 378 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the morphology of different non-tumoral lesions of the testis. By showing the differential diagnosis of each lesion, it offers clinicians vital support with diagnosis and treatment. The book is divided into seven main parts: genetic and developmental pathology of the testis; infertility; vascular pathology of the testis; inflammatory pathology; pathology of the rete testis and epididymis; pathology of the vaginal tunic and paratesticular structures; and a final part dealing with miscellanea. Each chapter includes carefully selected figures and a variety of diagrams highlighting the main characteristics of a specific lesion to facilitate its diagnosis.Based on the authors’ experience with hundreds of biopsies, surgical specimens and autopsies, the book presents material that has been gathered over the past 40 years, providing an essential tool for pathologists, urologists, andrologists and pediatricians who face diagnostic problems.
Book Synopsis The Principles of Clinical Cytogenetics by : Steven L. Gersen
Download or read book The Principles of Clinical Cytogenetics written by Steven L. Gersen and published by Springer. This book was released on 1999-03-17 with total page 580 pages. Available in PDF, EPUB and Kindle. Book excerpt: Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians who depend on the cytogenetics laboratory for the diagnosis of their patients.
Book Synopsis Educating Children with Fragile X Syndrome by : Denise Dew-Hughes
Download or read book Educating Children with Fragile X Syndrome written by Denise Dew-Hughes and published by Routledge. This book was released on 2003-12-16 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: What is Fragile X? The most common inherited cause of learning difficulties, affecting a child's ability to tackle key areas such as literacy and numeracy, and causing behaviour problems and social anxiety. What can teachers do to help children with Fragile X become more effective learners? This definitive text will provide essential support and information for teachers with the expertise of an international field of researchers, whose variety of perspectives contribute to a unique, multi-professional approach. Each chapter of the book suggests practical intervention strategies, based on sound educational principles expressed in clear non-specific terms. A range of important topics are considered, including: * the physical and behavioural characteristics of Fragile X * the effects of Fragile X on learning * medication and therapy * related conditions such as autism and attention deficit disorders. Breaking down the barriers of professional practice, this book establishes the groundwork for successful and valuable multi-professional teamwork. By providing immediate access to a body of empirical knowledge and advice from other disciplines, it will encourage teachers to incorporate this approach into their own practice. Everyone responsible for the education of a child with Fragile X syndrome should read this book.
Book Synopsis Growth Hormone in Fertility and Infertility: Physiology, Pathology, Diagnosis and Treatment by : Jan Tesarik
Download or read book Growth Hormone in Fertility and Infertility: Physiology, Pathology, Diagnosis and Treatment written by Jan Tesarik and published by Frontiers Media SA. This book was released on 2021-03-04 with total page 138 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Skilled Interpersonal Communication by : Owen Hargie
Download or read book Skilled Interpersonal Communication written by Owen Hargie and published by Routledge. This book was released on 2004-06-01 with total page 566 pages. Available in PDF, EPUB and Kindle. Book excerpt: Previous editions ('Social Skills in Interpersonal Communication') have established this work as the standard textbook on communication. Directly relevant to a multiplicity of research areas and professions, this thoroughly revised and updated edition has been expanded to include the latest research as well as a new chapter on negotiating. Key examples and summaries have been augmented to help contextualise the theory of skilled interpersonal communication in terms of its practical applications. Combining both clarity and a deep understanding of the subject matter, the authors have succeeded in creating a new edition which will be essential to anyone studying or working in the field of interpersonal communication.
