Rett Syndrome And Beyond
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Rett Syndrome And Beyond
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Author : Sara Anne Hammer
language : en
Publisher:
Release Date : 2002
Rett Syndrome And Beyond written by Sara Anne Hammer and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2002 with categories.
Creating Conditions
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Author : Katie Featherstone
language : en
Publisher: Routledge
Release Date : 2013-03-01
Creating Conditions written by Katie Featherstone and has been published by Routledge this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-03-01 with Social Science categories.
Based on original ethnographic research with scientists, clinicians and families, this book examines Rett syndrome to illuminate more general issues concerning the construction and interpretation of diseases and syndromes. It derives from research with a specialist team of clinicians and scientists, and a series of families referred with a potential diagnosis of Rett syndrome, and documents the scientific, clinical, patient and family experiences over a three-year period. Although Rett syndrome itself is rare, it is one of some 2,000 such syndromes, and its genetic basis has recently been linked to the much broader Autism spectrum. From a sociological or anthropological point of view, it is also of considerable interest as a clinical entity that is undergoing transformation in the light of recent post-genomic research. Traditionally, such syndromes have been diagnosed clinically, but increasingly genetic technologies are having an impact on the diagnosis, description and classification of conditions. Rett Syndrome is thus a key exemplar of the implications of genetic medicine that are far-reaching and extend well beyond this particular syndrome.
Rett Syndrome
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Author :
language : en
Publisher:
Release Date : 2003
Rett Syndrome written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003 with Rett syndrome categories.
Neuronal And Synaptic Dysfunction In Autism Spectrum Disorder And Intellectual Disability
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Author : Carlo Sala
language : en
Publisher: Academic Press
Release Date : 2016-04-30
Neuronal And Synaptic Dysfunction In Autism Spectrum Disorder And Intellectual Disability written by Carlo Sala and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-04-30 with Medical categories.
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
Nutrigenomics And Beyond
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Author : Institute of Medicine
language : en
Publisher: National Academies Press
Release Date : 2007-07-28
Nutrigenomics And Beyond written by Institute of Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007-07-28 with Science categories.
The integration of biology, genomics, and health has opened the possibility of applying genomics technology to nutrition. In 2001, scientists associated with the Human Genome Project announced the successful mapping of the reference sequence of the human genome. Since then, a body of information has emerged. Genomics and related areas of research have contributed greatly to efforts to understand the cellular and molecular mechanisms underlying diet-disease relationships. Integration and application of genetic and genomics technology into nutrition research is, therefore, needed to develop nutrition research programs that are aimed at the prevention and control of chronic disease through genomics-based nutritional interventions. Of interest is the integration of relevant computational methods into nutritional genomics research; the enhancement of tools applicable to systems biology; and the effective dissemination of genomics-derived information to scientists, policy makers, and the interested public. To address these issues, a workshop was held on June 1 and 2, 2006. The workshop included presentations that were structured around three focus sessions: human genetic variation, epigenetics, and systems biology. A fourth session presented discussions on the implications of nutrigenomics for the future of nutrition science research. Numerous themes emerged from the workshop presentations. First, nutrigenomics is a complex field because it addresses issues related to multigenetic traits that can be modified by a number of nutritional and other environmental factors. Such complexity presents a challenge to the field; and the ensuing research opportunities will require cooperative work among scientific disciplines and across government, academic, and industrial centers, as well as adequate funding, to be realized. Additionally, the ability to stretch the limits of conventional research methodologies afforded by new genetic and genomic applications at the level of the individual opens the door to a wealth of potential benefits to areas such as disease prevention and wellness, bearing in mind the necessity of ethical safeguards. This potential, however, must be wisely exploited to avoid the pitfalls of overpromising research results and prematurely setting unrealistic expectations for beneficial outcomes. Finally, careful and rigorous research must be employed to optimize outcomes and assure acceptance by the scientific community. In summary, nutrition science is uniquely poised to serve as the crossroads for many disciplines and, using genomics tools, can bring this knowledge together to better understand and address diet-related chronic diseases and molecular responses to dietary factors.
Outcomes In Neurodevelopmental And Genetic Disorders
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Author : Patricia Howlin
language : en
Publisher: Cambridge University Press
Release Date : 2002-07-25
Outcomes In Neurodevelopmental And Genetic Disorders written by Patricia Howlin and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2002-07-25 with Family & Relationships categories.
Succinct, up-to-date research summaries and practical guidelines for intervention in and management of a variety of developmental and genetic disorders.
The Rett Syndrome
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Author : John M. Opitz
language : en
Publisher:
Release Date : 1986
The Rett Syndrome written by John M. Opitz and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1986 with Intellectual disability categories.
Medical Genetics For The Mrcog And Beyond
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Author : Edward S. Tobias
language : en
Publisher: Cambridge University Press
Release Date : 2014-03-20
Medical Genetics For The Mrcog And Beyond written by Edward S. Tobias and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-03-20 with Medical categories.
Clear, understandable and concise with an accompanying internet guide, this is an unbeatable resource for learning, revision and staying up to date.
Pediatric Neurology Part I
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Author : Olivier Dulac
language : en
Publisher: Newnes
Release Date : 2013-04-24
Pediatric Neurology Part I written by Olivier Dulac and has been published by Newnes this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-04-24 with Medical categories.
The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology International list of contributors including the leading workers in the field Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care
Human Gene Mutation
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Author : David N. Cooper
language : en
Publisher: Taylor & Francis
Release Date : 1995
Human Gene Mutation written by David N. Cooper and has been published by Taylor & Francis this book supported file pdf, txt, epub, kindle and other format this book has been release on 1995 with Science categories.
Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.