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Living With Trisomy 18 Edwards Syndrome
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Book Synopsis Living with Trisomy 18 / Edwards Syndrome by : Josie Murrell
Download or read book Living with Trisomy 18 / Edwards Syndrome written by Josie Murrell and published by Xlibris Corporation. This book was released on 2013-02-22 with total page 186 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the story of the incredible journey of Melissa, her family, and her community, and the challenges each faced. Melissa’s condition, Trisomy 18, is one that carries a poor prognosis and her story is one of unconditional love, hope, despair, and joy, as she struggled to hold onto her fragile life. For Melissa’s family, life was extremely challenging for her short nine years. Her story gives the reader an insight into their lives and how each of them coped in their own way. Josie, Melissa’s mother, in writing Melissa’s story, opens her heart and innermost feelings and thoughts, enabling the reader to gain an understanding of how, despite the many challenges Melissa faced, each achievement was a milestone to be proud of. -Shirley Wass- Parent to Parent New Zealand
Book Synopsis Perinatal Neuropathology by : Mirna Lechpammer
Download or read book Perinatal Neuropathology written by Mirna Lechpammer and published by . This book was released on 2021 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: "1 Clinical history, clinical correlations with placental pathology and prematurity The initial steps in the process of perinatal nervous system evaluation, namely the planning of the optimal approach and choice of samples to be obtained, are driven by the clinical context. Of key importance are the following data: a. Gestational age at time of demise (if stillborn); or gestational age and postnatal age (if liveborn), for comparison with normative standards of development (see Appendix); b. State of maternal health (age, parity, pre-existing medical conditions or ones appearing during gestation or around the time of delivery, exposure to medications/toxins/infections), and of health of siblings or other family members: - Concerns for inherited (i.e., genetic) conditions, metabolic disorders, congenital infections, etc., may indicate the need for special testing; c. Details of prenatal course, including any imaging, amniocentesis, or monitoring: - Prenatal imaging modalities most commonly consist of transabdominal ultrasonography, generally done at the time of the first prenatal visit (to confirm pregnancy) or more usually in the mid-second-trimester for detection of fetal or placental anomalies"--
Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey
Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Muscular and Skeletal Anomalies in Human Trisomy in an Evo-Devo Context by : Rui Diogo
Download or read book Muscular and Skeletal Anomalies in Human Trisomy in an Evo-Devo Context written by Rui Diogo and published by CRC Press. This book was released on 2015-02-25 with total page 221 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book focuses on human anatomy and medicine and specifically on both muscular and skeletal birth defects in humans with trisomy. Moreover, this book also deals with Down syndrome, which is one of the most studied human syndromes and, due to its high incidence and the fact that individuals with this syndrome often live until adulthood, is of spe
Book Synopsis I Am Not a Syndrome - My Name Is Simon by : Sheryl Crosier
Download or read book I Am Not a Syndrome - My Name Is Simon written by Sheryl Crosier and published by . This book was released on 2012-10 with total page 224 pages. Available in PDF, EPUB and Kindle. Book excerpt: A moving and gripping story of Simon Crosier who suffers from Trisomy disorder.
Book Synopsis Management of Genetic Syndromes by : Suzanne B. Cassidy
Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
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 Cardioskeletal Myopathies in Children and Young Adults by : John Lynn Jefferies
Download or read book Cardioskeletal Myopathies in Children and Young Adults written by John Lynn Jefferies and published by Academic Press. This book was released on 2016-10-22 with total page 418 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cardioskeletal Myopathies in Children and Young Adults focuses on plaques that kill people in their 40’s-50’s and the way they start to form in young adulthood. The Annals of Family Medicine report that approximately half of young adults have at least one cardiovascular disease risk factor (Mar 2010), and an increase in cardiovascular mortality rates in young adults was substantiated in a study at Northwestern Medicine (Nov 2011). Given the increasing recognition of genetic triggers behind all types of cardiovascular disease, and the growing population of young adults with primary or acquired myocardial disease, the need has arisen for a reference that offers a comprehensive approach to the understanding of basic, translational, and clinical aspects of specific muscle diseases while making the link between young adult and adult health. Reveals the link between cardiac muscle disease and skeletal muscle disease Explains how genetics and environmental factors effect muscle function of diverse origins Designates current and novel therapeutic strategies that target both cardiac and skeletal muscle systems
Download or read book Expecting Better written by Emily Oster and published by Penguin. This book was released on 2014-06-24 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: “Emily Oster is the non-judgmental girlfriend holding our hand and guiding us through pregnancy and motherhood. She has done the work to get us the hard facts in a soft, understandable way.” —Amy Schumer What to Expect When You're Expecting meets Freakonomics: an award-winning economist and author of Cribsheet, The Family Firm, and The Unexpected disproves standard recommendations about pregnancy to empower women while they're expecting. Pregnancy—unquestionably one of the most profound, meaningful experiences of adulthood—can reduce otherwise intelligent women to, well, babies. Pregnant women are told to avoid cold cuts, sushi, alcohol, and coffee without ever being told why these are forbidden. Rules for prenatal testing are similarly unexplained. Moms-to-be desperately want a resource that empowers them to make their own right choices. When award-winning economist Emily Oster was a mom-to-be herself, she evaluated the data behind the accepted rules of pregnancy, and discovered that most are often misguided and some are just flat-out wrong. Debunking myths and explaining everything from the real effects of caffeine to the surprising dangers of gardening, Expecting Better is the book for every pregnant woman who wants to enjoy a healthy and relaxed pregnancy—and the occasional glass of wine.
Book Synopsis Essentials of Anesthesia for Infants and Neonates by : Mary Ellen McCann
Download or read book Essentials of Anesthesia for Infants and Neonates written by Mary Ellen McCann and published by Cambridge University Press. This book was released on 2018-02-22 with total page 465 pages. Available in PDF, EPUB and Kindle. Book excerpt: A practical, comprehensive guide to the special needs of infants and neonates undergoing anesthesia.
Download or read book MRCOG Part One written by Alison Fiander and published by Cambridge University Press. This book was released on 2016-10-13 with total page 557 pages. Available in PDF, EPUB and Kindle. Book excerpt: A fully updated and illustrated handbook providing comprehensive coverage of all curriculum areas covered by the MRCOG Part 1 examination.
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 Bella's Gift written by Rick Santorum and published by Thomas Nelson. This book was released on 2015-02-17 with total page 303 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rick and Karen Santorum’s inspiring story of life with Bella, their special-needs youngest child Four days after Rick and Karen Santorum welcomed their eighth baby into the world they were given the devastating news that their little girl, Bella, was going to die. The full story of life with Bella has never been told until now. This inspiring family memoir explores what it means to embrace and celebrate the life of each person, and find hope, even in the midst of painful challenges. Bella’s Gift is the story of how the entire family came together to love and care for Bella and how God strengthened them during the storms and blessed their family with grace, peace, and joy. Searchingly honest, faith filled, and surprisingly joyful, Bella’s Gift is a loving, lived-out testimony to the truth that everyone counts, even “the least of these.”
Book Synopsis Neonatal and Infant Dermatology by : Lawrence F. Eichenfield
Download or read book Neonatal and Infant Dermatology written by Lawrence F. Eichenfield and published by Elsevier Health Sciences. This book was released on 2014-08-25 with total page 752 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neonatal and Infant Dermatology is a unique comprehensive and heavily illustrated reference on the dermatologic diseases of newborns and infants. It includes discussions of common and uncommon conditions seen in infants at birth and in the first few months of life. With over 600 superb photographs of normal and abnormal skin conditions including images of rare conditions, this easily accessible resource is essential for pediatricians, neonatologists, and dermatologists as well as other healthcare professionals involved in the diagnosis and treatment of dermatologic diseases in infants and newborns. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Get the depth of coverage you need to effectively diagnose skin conditions in neonates and infants. Expedite effective differential diagnoses with guidance from algorithms, lists, text, boxes and supporting images. Benefit from the experience of over 60 contributors from around the world lead by Drs. Lawrence F. Eichenfield and Ilona J. Frieden, two of the most important names in the fields of dermatology and pediatrics. Glean all essential, up-to-date, need-to-know information with new chapters on Papulosquamous and Lichenoid Disorders, Acneiform and Sweat-gland disorders and two individual chapters on Vascular Malformations and Vascular Tumors. See what to expect and how to proceed with new, high-quality illustrations and photos that provide even more visual examples of abnormal and normal conditions. Take it with you anywhere! Access the full text, image library, and more online at Expert Consult.
Download or read book Trisomy 18 written by and published by . This book was released on 2005 with total page 52 pages. Available in PDF, EPUB and Kindle. Book excerpt: Information on Trisomy 18, the genetic description of the syndrome, associated medical problems and also information about living with and caring for your child.
Book Synopsis Human Reproductive and Prenatal Genetics by : Peter C.K. Leung
Download or read book Human Reproductive and Prenatal Genetics written by Peter C.K. Leung and published by Elsevier. This book was released on 2023-03-22 with total page 930 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Reproductive and Prenatal Genetics, Second Edition provides application-driven coverage of key topics in human reproductive and prenatal genetics, including genetic control underlying the development of the reproductive tracts and gametogenesis, the genetics of fertilization and implantation, the genetic basis of female and male infertility, as well as genetic and epigenetic aspects of assisted reproduction. Also examined are the genetics and epigenetics of the placenta in normal and abnormal pregnancy, preimplantation genetic diagnosis and screening, and cutting-edge advances in noninvasive prenatal screening, prenatal genetic counseling, and bioethical and medicolegal aspects of relevance in the lab and clinic. This new edition has been fully revised to address new and evolving technologies in human reproductive genetics, with new chapters added on chromatin landscapes and sex determination, genetic alterations of placental development and preeclampsia, metabolism and inflammation in PCOS, pre-implantational genetic testing, maternal genetic disorders, bioethics, and future applications. Features chapter contributions from leading international scientists and clinicians Provides in-depth coverage of key topics in human reproductive and prenatal genetics, including genetic controls, fertilization, placental development, embryo implantation, in vitro culture of the human embryo for the study of post-implantation development, and more Identifies how researchers and clinicians can implement the latest genetic, epigenetic, and –omics-based approaches Includes all new chapters on evolving technologies and recent genetic discoveries of relevance to reproductive medicine
Book Synopsis Ultrasound Diagnosis of Fetal Anomalies by : Michael Entezami
Download or read book Ultrasound Diagnosis of Fetal Anomalies written by Michael Entezami and published by Thieme. This book was released on 2011-01-01 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recent advances in ultrasound technology have dramatically advanced prenatal care, and its use is now standard. Medical professionals today can accurately detect fetal structural irregularities, and as a result, provide higher quality prenatal and postnatal patient care.This well-referenced teaching atlas is a comprehensive and practical overview of fetal ultrasound technology, providing up-to-date diagnosis and examination guidelines for the most clinically important anomalies and diseases. Incorporating an impressive collection of sonographic images and plates, the book provides an invaluable visual aid in recognizing even the most difficult-to-interpret ultrasound findings.Key features:- Nearly 500 high-quality sonograms and images that illustrate frequent and rare fetal irregularities, including pathophysiologic disorders- Tips for: avoiding common image misinterpretations; scanning techniques; and optimal times for ultrasound examinations- Special chapters on chromosomal disorders and their soft markers, post-infectious malformations, and multiple pregnancies- Unique design that allows quick and easy access to information- Useful data and advice for concerned parents, including Internet resources and support groupsNo professional can afford to be without this up-to-date information. Incorporating the graphic strength of an atlas with the educational utility of a textbook, ULTRASOUND DIAGNOSIS OF FETAL ANOMALIES is essential for helping specialists to reliably identify prenatal irregularities and disease for the best results.
