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Trisomy 21
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Book Synopsis Down Syndrome: From Understanding the Neurobiology to Therapy by :
Download or read book Down Syndrome: From Understanding the Neurobiology to Therapy written by and published by Elsevier. This book was released on 2012-10-16 with total page 273 pages. Available in PDF, EPUB and Kindle. Book excerpt: Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved DS treatments and cures. Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future research Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist
Download or read book Trisomy 21 written by André Frank Zimpel and published by Vandenhoeck & Ruprecht. This book was released on 2016-07-11 with total page 213 pages. Available in PDF, EPUB and Kindle. Book excerpt: For a long time, it was assumed that a genetic disposition such as trisomy 21 enables predictions to be made about overall personality development. But, who could have ever imagined that people with trisomy 21 (Down syndrome) would also be capable of earning a university degree? We studied 1,294 people with trisomy 21. The results showed that people with trisomy 21 benefit more from abstract learning than their neurotypical counterparts. Two-year-olds with the syndrome first learn to read and only then to speak and will understand algebra better than arithmetic. Ignorance of neurodiversity inevitably leads to learning difficulties when these people are forced to learn at the same pace as others. This applies to autism and trisomy 21 to the same extent. That is why this book advocates the recognition of trisomy 21 as a variant in the spectrum of human neurodiversity.
Book Synopsis Up, Not Down Syndrome by : Nancy M. Schwartz
Download or read book Up, Not Down Syndrome written by Nancy M. Schwartz and published by Modern History Press. This book was released on 2020-04-01 with total page 126 pages. Available in PDF, EPUB and Kindle. Book excerpt: Up, Not Down Syndrome is a love letter and a map. Experience how it feels to think your life is over after having an unlovable baby. At first the loss seems impossible to overcome. Alex becomes the author's greatest teacher. Love is stronger than fear. Everyone has gifts. The book consists of three parts: the story, the lessons Alex taught the writer and Alex's perspective. Up, Not Down Syndrome is a promise to stay positive, no matter what: up, not down. Nancy's journey gets to the core of what it is to be human: * Explore what it feels like to think life, as you know it, is over. * Discover the fierce love, joy and peace a baby diagnosed with Trisomy 21 (Down syndrome) brings. * Learn the lessons this child taught his mom. * Understand the gift this baby brings to our world. * Realize the depth of the love this family has for the child. "A beautiful, honest account of not just accepting--but embracing--the unknown. Nancy shows us the blessing of an unexpected gift and the enormity of love." --Sara Byala, Ph.D. "This is a wonderful book to remind you that the joy of love is possible in unexpected places when you open your heart to it." --Barbara Taylor Bowman, Irving B. Harris Professor of Child Development "A moving and wise story of how a family navigates through hope, loss, learning and, most of all, love." --Rabbi David Wolpe, author of David: The Divided Heart "The truth and beauty of Nancy Schwartz's words tell an ongoing story of love, learning and the power of acceptance. All can learn from this family's boundless hope and from their source of joy and strength: Alex." --April Beard, Music Educator and Cellist Learn more at www.UpNotDownBook.com From Modern History Press www.ModernHistoryPress.com
Book Synopsis The Molecular Biology of Down Syndrome by : G. Lubec
Download or read book The Molecular Biology of Down Syndrome written by G. Lubec and published by Springer Science & Business Media. This book was released on 1999-12-02 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book contains updated reviews and original research work on Down Syndrome focussing on brandnew results in neurobiology, in particular results on gene hunting (subtractive hybridization, differential display) and neurochemistry. The book provides new data such as a subtractive library of Down Syndrome brain showing cDNAs that are overexpressed or downregulated and can be regarded as a source for further research on the preliminary transcriptional data given. A 2D-electrophoretic map of human brain proteins including Down Syndrome brain protein expression established by in-gel-digestion of spots with subsequent MALDI-identification provides the scientific basis for protein work to the neuroscientist. Altogether, the book provides a series of new candidate genes possibly involved in Down Syndrome neurobiology, tools for neuroscience studies on Down Syndrome brain thus serving as a manual and updated views and aspects on Down Syndrome pathobiology.
Download or read book Primary Cilia written by and published by Academic Press. This book was released on 2009-11-30 with total page 408 pages. Available in PDF, EPUB and Kindle. Book excerpt: In recent years, the role of cilia in the study of health, development and disease has been increasingly clear, and new discoveries have made this an exciting and important field of research. This comprehensive volume, a complement to the new three-volume treatment of cilia and flagella by King and Pazour, presents easy-to-follow protocols and detailed background information for researchers working with cilia and flagella. *Covers protocols for primary cilia across several systems and species * Both classic and state-of-the-art methods readily adaptable across model systems, and designed to last the test of time * Relevant to clinicians and scientists working in a wide range of fields
Book Synopsis Chromosomal Variation in Man by : Digamber S. Borgaonkar
Download or read book Chromosomal Variation in Man written by Digamber S. Borgaonkar and published by John Wiley & Sons. This book was released on 1984 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Genetics and Etiology of Down Syndrome by : Subrata Dey
Download or read book Genetics and Etiology of Down Syndrome written by Subrata Dey and published by BoD – Books on Demand. This book was released on 2011-08-29 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a concise yet comprehensive source of current information on Down syndrome. Research workers, scientists, medical graduates and paediatricians will find it an excellent source for reference and review. This book has been divided into four sections, beginning with the Genetics and Etiology and ending with Prenatal Diagnosis and Screening. Inside, you will find state-of-the-art information on: 1. Genetics and Etiology 2. Down syndrome Model 3. Neurologic, Urologic, Dental
Download or read book OBSTETRICS written by and published by . This book was released on 2016 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Facts about Down Syndrome written by and published by . This book was released on 1984 with total page 20 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Down Syndrome written by William I. Cohen and published by John Wiley & Sons. This book was released on 2003-04-14 with total page 493 pages. Available in PDF, EPUB and Kindle. Book excerpt: Der Band bietet einen aktuellen Überblick über klinische, entwicklungsbezogene, psychosoziale, erziehungs- und berufsbezogene Fragen bei Patienten mit Down Syndrom. Er diskutiert auch die Konsequenzen des Human-Genom-Projektes und die Sequenzierung des Chromosom 21. Erörtert aktuellste Entwicklungen, u.a. zum Thema Sexualität, Einbeziehung, Übergang ins Erwachsenenalter und Rechtsprechung. Behandelt die aktuellsten Neuerungen der "Health Care Guidelines for Individuals with Down Syndrome". Enthält auch Material zu mitunter kontrovers diskutierten alternativen und unkonventionellen Therapieansätzen.
Book Synopsis The Pediatric and Adolescent Hip by : Sattar Alshryda
Download or read book The Pediatric and Adolescent Hip written by Sattar Alshryda and published by Springer. This book was released on 2019-06-28 with total page 910 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides an evidence-based approach to treating the increasing number of children and adolescents presenting with hip disorders. It integrates the most up-to-date data with essential knowledge, gleaned from decades of previous research and practice. Each chapter provides a comprehensive text which integrates relevant pathophysiology, clinical assessment, and imaging, with an evidence-based approach to non-operative and operative management, authored by globally recognized experts in the field of pediatric hip surgery. Detailed surgical techniques, illustrated with original medical drawings and accompanied by their respective indications, anticipated outcomes, and potential complications, are also featured, in this first orthopedic text dedicated solely to the pediatric and adolescent hip. The Paediatric and Adolescent Hip: Essentials and Evidence will be an indispensable resource for wide spectrum of audience including paediatric orthopaedic surgeons, general practitioners, general orthopaedic surgeons, trauma surgeons, orthopaedic residents, emergency department doctors, and physiotherapists seeking a clear and consistent evidence-based guide to treating the paediatric hip.
Book Synopsis Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling by : R.J. McKinlay Gardner
Download or read book Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling written by R.J. McKinlay Gardner and published by Oxford University Press. This book was released on 2018-02-06 with total page 634 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
Book Synopsis Handbook of Fetal Medicine by : Sailesh Kumar
Download or read book Handbook of Fetal Medicine written by Sailesh Kumar and published by Cambridge University Press. This book was released on 2010-07-01 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Handbook of Fetal Medicine provides a concise and practical guide to the modern management of normal pregnancy and the at-risk fetus. Comprehensive in scope, in an easy-to-use format, the book provides guidance on a wide range of conditions, best practice management strategies and treatment options in maternal-fetal medicine. Each system-based chapter has a brief introduction on embryology and discusses the key genetic developments and relevant developmental abnormalities. The book begins by addressing genetic disorders such as Down syndrome, and goes on to consider skeletal and bodily system abnormalities. All key management points are highlighted and data on long-term outcomes are provided. This book will appeal to maternal-fetal medicine specialists, subspecialty trainees, obstetricians and midwives as a useful practical reference tool in daily practice. It is particularly suitable for trainees in Obstetrics & Gynaecology preparing for the post graduate examinations.
Download or read book Trisomy 21 written by G.R. Burgio and published by Springer Science & Business Media. This book was released on 2013-03-07 with total page 265 pages. Available in PDF, EPUB and Kindle. Book excerpt: With contributions by numerous experts
Download or read book Downs written by David Wright and published by Oxford University Press. This book was released on 2011-08-25 with total page 254 pages. Available in PDF, EPUB and Kindle. Book excerpt: Editorial Advisor, Helen Bynum is a freelancer historian and author. --Book Jacket.
Book Synopsis Noninvasive Prenatal Testing (NIPT) by : Lieve Page-Christiaens
Download or read book Noninvasive Prenatal Testing (NIPT) written by Lieve Page-Christiaens and published by Academic Press. This book was released on 2018-08-19 with total page 408 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation. Provides a thorough, practical examination of the history of NIPT, NIPT laboratory techniques and bioinformatics, NIPT screening and diagnostics for a wide range of disorders and birth defects Presents leading, international experts who discuss the application of NIPT in early screening for common aneuploidies, fetal chromosome anomalies, autosomal trisomies, fetal blood group typing, and maternal constitutional and acquired copy number variants Includes full color imagery that enhances concept illustration, along with detailed descriptions of the benefits (and limitations) of NIPT Offers clinicians, researchers, genetic counselors and reproductive specialists of all kinds the required background information, methodologies and essential patient counseling techniques
Book Synopsis Handbook of Pediatric Anesthesia by : Manon Hache
Download or read book Handbook of Pediatric Anesthesia written by Manon Hache and published by McGraw-Hill Education / Medical. This book was released on 2014-10-21 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt: Sharpen your clinical decision-making skills with this concise handbook of anesthesia care for children Written by the pediatric anesthesia faculty at Columbia University Medical Center, Handbook of Pediatric Anesthesia is a succinct guide to the practice of clinical anesthesia in neonates, infants, children, and adolescents. Each of the 89 chapters is devoted to a specific illness or disorder and is presented in a consistent, easy-access design. Every chapter includes a case description, perioperative considerations, anesthetic management, postoperative considerations, controversies, and surgical concerns for the illness discussed. Covering the entire breadth of the specialty, Handbook of Pediatric Anesthesia is an outstanding introductory text and an essential review for pediatric anesthesia board certification and recertification. It is especially valuable to residents and trainees as well as practicing anesthesiologists who do not manage pediatric cases on a regular basis. The book concludes with detailed appendices, including a Pediatric Critical Event Checklist and a Pediatric Drug Guide.
