Author: Daman Kumari Publisher: MDPI ISBN: 3039215051 Category : Science Languages : en Pages : 250
Book Description
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.
Author: Lawrence Scahill Publisher: OUP USA ISBN: 0195398211 Category : Medical Languages : en Pages : 837
Book Description
When the first edition of Pediatric Psychopharmacology published in 2002, it filled a void in child and adolescent psychiatry and quickly establishing itself as the definitive text-reference in pediatric psychopharmacology. While numerous short, clinically focused paperbacks have been published since then, no competitors with the scholarly breadth, depth, and luster of this volume have emerged. In the second edition, Christopher Kratochvil, MD, a highly respected expert in pediatric psychopharmacology, joins the outstanding editorial team led by Dr. Martin and Dr. Scahill. In the new edition, the editors streamline the flow of information to reflect the growth in scientific data since the first edition appeared. The overall structure of the book remains the same, with major sections on underlying biology; somatic interventions; assessment and treatment; and special considerations.
Author: Stefania Mondello Publisher: Frontiers Media SA ISBN: 2889193918 Category : Biochemical markers Languages : en Pages : 179
Book Description
Traumatic brain injury (TBI) is a major cause of death and disability and one of the greatest unmet needs in medicine and public health. TBI not only has devastating effects on patients and their relatives but results in huge direct and indirect costs to society. Although guidelines for the management of patients have been developed and more than 200 clinical trials have been conducted, they have resulted in few improvements in clinical outcomes and no effective therapies approved for TBI. It is now apparent that the heterogeneity of clinical TBI is underlain by molecular phenotypes more complex and interactive than initially conceived and current approaches to the characterization, management and outcome prediction of TBI are antiquated, unidimensional and inadequate to capture the interindividual pathophysiological heterogeneity. Recent advances in proteomics and biomarker development provide unparalleled opportunities for unraveling substantial injury-specific and patient-specific variability and refining disease characterization. The identification of novel, sensitive, objective tools, referred to as biomarkers, can revolutionize pathophysiological insights, enable targeted therapies and personalized approaches to clinical management. In this Research Topic, we present novel approaches that provide an infrastructure for discovery and validation of new biomarkers of acute brain injury. These techniques include refined mass spectrometry technology and high throughput immunoblot techniques. Output from these approaches can identify potential candidate biomarkers employing systems biology and data mining methods. In this Research Topic, we present novel approaches that provide an infrastructure for discovery and validation of new biomarkers of acute brain injury. These techniques include refined mass spectrometry technology and high throughput immunoblot techniques. Output from these approaches can identify potential candidate biomarkers employing systems biology and data mining methods. Finally, suggestions are provided for the way forward, with an emphasis on need for a multidimensional approach that integrate a panel of pathobiologically diverse biomarkers with clinical variables and imaging-based assessments to improve diagnosis and classification of TBI and to develop best clinical practice guidelines.
Author: Carlo Sala Publisher: Academic Press ISBN: 0128005335 Category : Medical Languages : en Pages : 396
Book Description
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
Author: Mireille M. M. van Eechoud Publisher: Kluwer Law International B.V. ISBN: 9041120718 Category : Law Languages : en Pages : 306
Book Description
Nobody denies that the traditional territorial approach to copyright and other intellectual property rights has come under pressure. Yet it persists. Faced with the need to determine the applicable law in cross-border cases, lawyers everywhere wrestle with the implications of the territorial nature of copyright and related rights. In this book Mireille van Eechoud clears the way to the formulation of conflict rules that reflect the purpose of copyright law- to protect creators and stimulate the production and use of information- without reverting to old-fashioned notions of territoriality. She shows how the applicable law can be determined for four distinct legal avenues of intellectual property law: Which exclusive rights exist in an intellectual creation and for how long; Who is considered to own such right; How can these rights be transferred; and What continues infringement of copyright and related rights. Mireille van Eechoud shows how, when each of these questions is approached in the light of the different allocation principles used in modern choice of law, a new clarity begins to emerge that promises in time to build a set of conflict rules well suited to the unprecedented copyright and related rights issues that we find so difficult to resolve today. Her in-depth analysis draws in the classis multilateral conventions and treaties, underlying policies, technological and economic developments, utilitarian grounds versus justice considerations, and issues of infringement in the digital environment. INFORMATION LAW SERIES 12.
Author: Daman Kumari
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Author: Lawrence Scahill
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Author: Carlo Sala
Author: Mireille M. M. van Eechoud