Clinical Perspectives in the Management of Down Syndrome:
Cytogenetics of Down Syndrome:Clinical and Cytogenetic profile in patients with Down syndrome in Duhok province\ Kurdistan region-Iraq Dian Salih
This second edition of a successful book provides updated clinical and research knowledge, including information on the licensing of new antiepileptic drugs. All chapters are updated to reflect present accepted practice. New chapters highlighting the importance of the genetic aspects of epilepsy, nonpharmacological treatments, and the impact of epilepsy on families and carers have been added. Ongoing developments in the general population, which will more likely than not become relevant to the intellectually disabled population, are discussed. The impact of epilepsy on the person themselves and their carers is acknowledged, and person-centred treatment programs with a multifaceted team approach are proposed. This book is aimed at physicians and residents in neurology and pediatrics, as well as other practitioners working with this population, such as neuropsychologists. Epilepsy and Intellectual Disabilities, Second Edition is recommended reading for all those caring for this important group of individuals. Vee Prasher is a NHS Consultant in Intellectual Disabilities and visiting Professor of Neuropsychiatry. He qualified in 1985 from the University of Birmingham UK as a Medical Doctor. He initially did neurosurgery training, later general psychiatry, and finally specialised in the field of intellectual disability. He has been actively involved in research in intellectual disability, having published over 100 articles relating to people with intellectual disability. He has completed 3 post doctorate degrees in this field, MMedSc, MD, and PhD. As an editor or author he has published 10 textbooks. He has a recognised international reputation and has been involved in a number of international studies and reports highlighting health issues for persons with intellectual disability. Professor Mike Kerr studied medicine in Bristol (UK), General Practice in York and Psychiatry in Cardiff. He came to Wales in 1990. His clinical practice is in the epilepsies associated with learning disability and in the assessment and treatment of epilepsy and psychiatric disorder. He has been closely associated with initiatives in improving the public health of people with an intellectual disability including developing the Cardiff Health Check, which is used across England and Wales. Academically he has published widely on healthcare, epilepsy and intellectual disability and held research grants from many funding bodies. He is chair of the Advisory Board for Wales of Epilepsy Action, a trustee of Epilepsy Research UK and SUDEP ACTION. He is a medical advisor for the Rett Society, The Down Syndrome Association and SUDEP ACTION. He is a member of the International League Against Epilepsy (ILAE) commission on neuropsychiatric aspects of epilepsy and an editor of the Cochrane collaboration epilepsy group. He has been appointed as a clinical Champion for Wales. He has also been appointed as an Ambassador for Epilepsy by the ILAE and International Bureau for Epilepsy.
This book presents the state of the art of type 2 diabetes genetics, from the process of genetic discovery to its interpretation and clinical application, and illustrates a model for other complex human phenotypes. The first section explores genome-wide association studies, the extension of this method to less accessible phenotypes and the arrival of next-generation sequencing. A further section goes beyond genetics to illustrate how other data sources can help interpret genetic data, such as leveraging population diversity, the correlation of genetic associations with physiological measurements, gene expression modulation, environmental factors and our microbial commensals. The third section describes advances in elucidating the complex path from association to function using in-depth sequencing and functional studies of the cellular and molecular effects of genes in the loci identified by genetics. The final section links our current understanding with clinically relevant questions, such as prediction, interactions with drugs or nutrients, and disease prevention, and paints a realistic but hopeful vision of the future. ? Jose C. Florez, M.D., Ph.D. is an Assistant in Medicine (Endocrine Division) at the Massachusetts General Hospital, an Associate Professor at Harvard Medical School and an Associate Member at the Broad Institute, where he is active in the Program in Medical and Population Genetics and the Broad Metabolism Initiative. He and his group have contributed to the performance and analysis of genome-wide association studies in type 2 diabetes and related traits, in the Diabetes Genetics Initiative (formed by the Broad Institute, Lund University and Novartis), the Framingham Heart Study, and other international consortia such as MAGIC, GENIE and DIAGRAM, involving collaborators within CHGR and the Broad Institute. He is an author on 70+ original publications and 30+ reviews/book chapters. In addition to his research and teaching duties, he directs the MGH Down Syndrome Clinic for Adults and Adolescents, and is clinically active in the MGH Diabetes Center and in the Endocrine inpatient consult service. He serves on the Editorial Board for Diabetes and the Advisory Board for Diabetologia, and is the Editor-in-Chief for Current Diabetes Reports. He is the recipient of the MGH Physician Scientist Development Award, a Doris Duke Charitable Foundation Clinical Scientist Development Award, the MGH Department of Medicine Stephen Krane Award, and the 2010 Presidential Early Career Award for Scientists and Engineers, the highest honor bestowed by the United States government on science and engineering professionals in the early stages of their independent research careers.