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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
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
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.
MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Editorial Advisor, Helen Bynum is a freelancer historian and author. --Book Jacket.
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.
With contributions by numerous experts
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.