Download or read book New Advances in Pediatric Neurologic and Developmental Disorders in the Era of Genomics An Issue of Pediatric Clinics of North America written by Gyula Acsadi and published by Elsevier Health Sciences. This book was released on 2015-06-25 with total page 273 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurodevelopmental diseases affect three percent of children and the specific cause is difficult to determine in many cases. Genetic research uncovered many loss or gain of function mutations in genes that are associated with synaptic development and or remodeling. However, more an more data are accumulating regarding the importance in gene regulations in neurodevelopmental diseases. Thjis issue addresses many aspects of the genomics of neurodevelopmental diseases, including articles devoted to genomic variations of brain malformations; neuroimaging of brain development; update on autism evaluation and genetics; prader-willi and angelman syndromes; tuberous sclerosis complex; genetics of pediatric epilepsy; pediatric leukodystrophies; autoimmune encephalopathies; inherited neuropathies and motor neuron diseases; and muscular dystrophies and congenital myopathies.
Download or read book New Advances in Pediatric Neurologic and Developmental Disorders in the Era of Genomics an Issue of Pediatric Clinics of North America written by Gyula Acsadi and published by Elsevier. This book was released on 2015-06-28 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurodevelopmental diseases affect three percent of children and the specific cause is difficult to determine in many cases. Genetic research uncovered many loss or gain of function mutations in genes that are associated with synaptic development and or remodeling. However, more an more data are accumulating regarding the importance in gene regulations in neurodevelopmental diseases. Thjis issue addresses many aspects of the genomics of neurodevelopmental diseases, including articles devoted to genomic variations of brain malformations; neuroimaging of brain development; update on autism evaluation and genetics; prader-willi and angelman syndromes; tuberous sclerosis complex; genetics of pediatric epilepsy; pediatric leukodystrophies; autoimmune encephalopathies; inherited neuropathies and motor neuron diseases; and muscular dystrophies and congenital myopathies.
Download or read book Epilepsy An Issue of Neurosurgery Clinics of North America written by Kareem A. Zaghloul and published by Elsevier Health Sciences. This book was released on 2016-01-19 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Medications for epilepsy are mainstays in controlling epileptic seizures. But surgical procedures are another dimension in treatment. Included in this issue will be articles such as: Laser ablation for hypothalamic hamartomas and other epileptic lesions, radiosurgery for epilepsy, minimally invasive neurosurgery using focused MRI guidance, Selective amygdalohippocampectomy, and many more!
Download or read book Pediatric Genetics An Issue of Pediatric Clinics of North America E Book written by Anne Slavotinek and published by Elsevier Health Sciences. This book was released on 2023-09-14 with total page 211 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this issue, guest editors bring their considerable expertise to this important topic. Provides in-depth reviews on the latest updates in the field, providing actionable insights for clinical practice. Presents the latest information on this timely, focused topic under the leadership of experienced editors in the field. Authors synthesize and distill the latest research and practice guidelines to create these timely topic-based reviews.
Download or read book Neurodevelopmental Pediatrics written by David D. Eisenstat and published by Springer Nature. This book was released on 2023-02-22 with total page 816 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book explores the interrelationship of genetics, the environment, or both, in the causation of three neurodevelopmental disorders: autism/autism spectrum disorder (ASD), fetal alcohol spectrum disorder (FASD), and cerebral palsy (CP). It links common clinical problems in developmental pediatrics and pediatric neurology to current concepts and translational research advances in developmental neurosciences, medical genetics, and related disciplines. The first section of the book provides a comprehensive and up-to-date overview of development of the brain, including topics such as neuronal stem cells, epigenetics, and the influence of the prenatal environment. The next three sections analyze the epidemiology, diagnosis, interventions, and controversies and research directions associated with each of the three neurodevelopmental disorders. It also examines co-morbidities common to all three disorders, such as disturbed sleep, seizures, behavioral disorders, and pain. It concludes by highlighting the impact of ASD, FASD, and CP on family dynamics and provides tools and resources based on foundational concepts such as neuroethics, bioinformatics, community engagement, and advocacy. Learning objectives, key points, clinical vignettes, and multiple choice questions are incorporated throughout the book. With its comprehensive treatment of disease mechanisms, genetics, and pathophysiology associated with these disorders and its discussion of potential therapies and novel treatments, Neurodevelopmental Pediatrics: Genetic and Environmental Influences is an essential resource for developmental pediatricians, child neurologists, fellows, residents and graduate students.
Download or read book Genomic Essentials for Graduate Level Nurses written by Diane C. Seibert and published by DEStech Publications, Inc. This book was released on 2016-02-29 with total page 460 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents genetics and genomic essentials specifically for graduate-level nursesPrenatal care, cardiology, cancer and other disease systems covered in depth by chapter expertsKey chapter devoted to ethical and legal issues and to future technology Designed as both a nursing reference and course text, this book presents genetics and genomic essentials specifically for graduate-level nurses. Preliminary chapters cover the basics of genetics, risk assessment and genetic testing. With chapter contributions by topic experts, the remainder of the book is organized by disease system and covers genetics and genomics in prenatal care, neurology, cancer, respiratory function, cardiology, pharmacogenomics, hematology and others. Key chapters on ethical and legal issues and future technology are also included. This volume is well-suited for nursing faculty, nursing students, nurse leaders, and other nursing professionals with a need for further information on genetics and genomics in a nursing role and across a variety of specialties.
Download or read book Genomics Circuits and Pathways in Clinical Neuropsychiatry written by Thomas Lehner and published by Academic Press. This book was released on 2016-06-07 with total page 796 pages. Available in PDF, EPUB and Kindle. Book excerpt: This foundational work comprehensively examines the current state of the genetics, genomics and brain circuitry of psychiatric and neurological disorders. It consolidates discoveries of specific genes and genomic regions associated with these conditions, the genetic and anatomic architecture of these syndromes, and addresses how recent advances in genomics are leading to a reappraisal of the biology underlying clinical neuroscience. In doing so, it critically examines the promise and limitations of these discoveries toward treatment, and to the interdisciplinary nature of understanding brain and behavior. Coverage includes new discoveries regarding autism, epilepsy, intellectual disability, dementias, movement disorders, language impairment, disorders of attention, schizophrenia, and bipolar disorder. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry focuses on key concepts, challenges, findings, and methods in genetics, genomics, molecular pathways, brain circuitry, and related neurobiology of neurologic and psychiatric disorders. Provides interdisciplinary appeal in psychiatry, neurology, neuroscience, and genetics Identifies key concepts, methods, and findings Includes coverage of multiple disorders from autism to schizophrenia Reviews specific genes associated with disorders Discusses the genetic architecture of these syndromes Explains how recent findings are influencing the understanding of biology Clarifies the promise of these findings for future treatment
Download or read book Report on i e Of the Panel on Developmental Neurological Disorders to the National Advisory Neurological and Communicative Disorders and Stroke Council National Institute of Neurological and Communicative Disorders and Stroke written by Panel on Developmental Neurological Disorders (U.S.) and published by . This book was released on 1979 with total page 92 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genomics and Health in the Developing World written by Dhavendra Kumar and published by Oxford University Press. This book was released on 2012-06-14 with total page 1569 pages. Available in PDF, EPUB and Kindle. Book excerpt: Readership: Geneticists and clinicians worldwide in addition to graduate students and researchers interested in populations and genomics
Download or read book Report on i e of the Panel on Developmental Neurological Disorders to the National Advisory Neurological and Communicative Disorders and Stroke Council National Institute of Neurological and Communicative Disorders and Stroke written by National Advisory Neurological and Communicative Disorders and Stroke Council (U.S.). Panel on Developmental Neurological Disorders and published by . This book was released on 1979 with total page 92 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Pediatric Genetics An Issue of Pediatric Clinics of North America written by Anne Slavotinek and published by Elsevier. This book was released on 2023-10-28 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this issue, guest editors bring their considerable expertise to this important topic.
Download or read book Diagnosis of Neurogenetic Disorders Contribution of Next Generation Sequencing and Deep Phenotyping written by Alisdair McNeill and published by MDPI. This book was released on 2019-10-23 with total page 96 pages. Available in PDF, EPUB and Kindle. Book excerpt: The contribution of genomic variants to the aetiopathogenesis of both paediatric and adult neurological disease is being increasingly recognized. The use of next-generation sequencing has led to the discovery of novel neurodevelopmental disorders, as exemplified by the deciphering developmental disorders (DDD) study, and provided insight into the aetiopathogenesis of common adult neurological diseases. Despite these advances, many challenges remain. Correctly classifying the pathogenicity of genomic variants from amongst the large number of variants identified by next-generation sequencing is recognized as perhaps the major challenge facing the field. Deep phenotyping (e.g., imaging, movement analysis) techniques can aid variant interpretation by correctly classifying individuals as affected or unaffected for segregation studies. The lack of information on the clinical phenotype of novel genetic subtypes of neurological disease creates limitations for genetic counselling. Both deep phenotyping and qualitative studies can capture the clinical and patient’s perspective on a disease and provide valuable information. This Special Issue aims to highlight how next-generation sequencing techniques have revolutionised our understanding of the aetiology of brain disease and describe the contribution of deep phenotyping studies to a variant interpretation and understanding of natural history.
Download or read book Neurodevelopmental Disabilities written by Michael Shevell and published by John Wiley & Sons. This book was released on 2009-08-24 with total page 505 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurodevelopmental disabilities are a common problem in child health. This book takes a comprehensive approach to addressing these often challenging clinical diagnoses. In particular, it focuses on the two most common of childhood neurodevelopmental disabilities: global developmental delay and developmental language impairment. It seeks to put forward our present conceptualization of these entities as well as their proper evaluation and assessment and diagnosis from a variety of perspectives. It also provides details on our current understanding of the scientific basis of these disorders and their underlying causes. Issues related to medical management, rehabilitation, and eventual outcomes are also addressed in a detailed way. The book has wide appeal to those in paediatrics, developmental paediatrics, child neurology, and paediatric rehabilitation. Its geographic appeal includes both developed and developing nations as some chapters are devoted to the particular issues faced in underdeveloped countries. The book’s focus on both clinical and scientific aspects is invaluable in this field. It also provides extensive information in a single source relating to often-overlooked areas such as medical management, rehabilitation, public policy, and ethics.
Download or read book X Y Chromosomal Variations written by Carole A. Samango-Sprouse and published by Biota Publishing. This book was released on 2016-10-11 with total page 151 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the first book on X and Y chromosomal disorders to address these common but rarely diagnosed conditions. This book seeks to present the latest in research and clinical care addressing neuroimaging, the interaction between hormones, brain development, and neurodevelopmental progression. This book will primarily focus on 47, XXY (Klinefelter syndrome, or KS), 47, XYY (Jacobs' syndrome), and 47, XXX (Triple X). More variant disorders such as 48, XXXX, 48, XXXY and 49, XXXXY will be discussed. Topics of interest include neurological functioning, neuroimaging, social language, and the evolving perspectives of these XY chromosomal disorders. The effects of testosterone supplementation in males with 47, XXY will also be examined.
Download or read book Children with Disabilities written by Mark L. Batshaw and published by . This book was released on 2002 with total page 924 pages. Available in PDF, EPUB and Kindle. Book excerpt: This reference provides coverage of the developmental, clinical, educational, family and intervention issues related to the care of children with disabilities. Readers will explore the beginning of life from conception to infancy, including factors in each stage that can cause disability; learn about child development, including physical development and preventable threats; go in-depth on specific developmental disabilities they'll likely encounter; and find guidelines on conducting interventions, managing outcomes, and working with families. preservice and in-service professionals. The book features case stories, a glossary of key terms and appendices about medications, resources and syndromes and inborn errors of metabolism.
Download or read book Developmental and Behavioral Pediatrics written by Robert G. Voigt and published by . This book was released on 2011 with total page 590 pages. Available in PDF, EPUB and Kindle. Book excerpt: All-new clinical resource for managing children with developmental and behavioral concerns. Developed by leading experts in developmental and behavioral pediatrics, the all-new AAP Developmental and Behavioral Pediatrics gives one place to turn for expert recommendations to deliver, coordinate, and/or monitor quality developmental/behavioral care within the medical home. The one resource with all the essentials for pediatric primary care providers. Evaluation and care initiation: Interviewing and counseling, Surveillance and screening, Psychoeducational testing, Neurodevelopment.
Download or read book Diseases of the Nervous System in Childhood written by Jean Aicardi and published by Mac Keith Press. This book was released on 1998-02-11 with total page 912 pages. Available in PDF, EPUB and Kindle. Book excerpt: This eagerly awaited new edition is comprehensively updated whilst retaining both the popular problem-solving approach and its familiar organisation and style. Notable advances receive careful coverage, from molecular genetics and imaging technology to 'new' diseases and important treatment developments. From the reviews of the first edition: "A 1400 page textbook by a master clinician and teacher with unparalleled experience in both hospital and ambulatory child neurology has to be taken seriously and can be consulted with confidence" ... "It is a user-friendly reference book that belongs on the shelf of child and adult neurologists, pediatricians, neurosurgeons, and general practitioners who need authoritative and complete information about the common and rare neurological disorders they are bound to encounter" ... "readers get the feeling that Dr Aicardi is speaking directly to them and sharing the wisdom accrued from years of clinical experience and teaching" ... "There is much to praise and little to criticise in this treatise." New England Journal of Medicine Received a Highly Commended Certificate (Advanced Edited Book Category) at the Medical Society of London 1998 Medical Book Awards.
