Download or read book Down s Anomaly written by George Franklin Smith and published by . This book was released on 1976 with total page 368 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cette seconde édition tente de combler les lacunes de la première face au développement des connaissance sur le sujet du syndrome de Down. Plus de cent- vingt-ans ont passé depuis la découverte du syndrome par Langdon Down. Ce document tente de fournir des informations sur ce syndrome et les différences et les anomalies qu'il engendrent. Il est alores question d'un historique de la découverte et des progrès associés au syndrome, les différentes facettes physiologiques des personnes atteintes de ce syndrome, du système osseux et musculaire, du développement de l'intelligence ainsi que de la dermatologie particulièere au syndrome de Down. Plusieurs informations cliniques sont également fournies tout comme la prévention et le traitement de certaines anomalies.
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 Down s Anomaly 21 Trisomy and Turner s Syndrome 46 XXqi in the Same Sibship written by and published by . This book was released on 1970 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Down Syndrome and Other Chromosome Abnormalities written by Subrata Dey and published by BoD – Books on Demand. This book was released on 2022-03-23 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a concise yet comprehensive source of current information on Down syndrome and other chromosomal abnormalities. Research workers, scientists, medical graduates and paediatricians will find it an excellent source for reference and review. Key features of this book are as follows: • Mechanisms of aneuploidy. • Effect of sociodemographic factors on different congenital disorders. • Haematological malignancies and congenital heart disease in Down syndrome. • Prenatal screening, management and counselling to detect Down syndrome and other chromosomal abnormalities. While aimed primarily at research workers on Down syndrome and different types of chromosomal disorders, we hope that the appeal of this book will extend beyond the narrow confines of academic interest and be of interest to a wider audience, especially the parents and relatives of children suffering from Down syndrome and other chromosomal abnormality syndromes.
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 Common Malformations written by Lewis B. Holmes and published by OUP USA. This book was released on 2011-09-29 with total page 481 pages. Available in PDF, EPUB and Kindle. Book excerpt: This authoritative research guide includes over 400 original photographs and illustrations of major malformations, minor abnormalities and birth marks. The book is designed for ease of use and includes a full chapter of anthropologic measurements to help practitioners conduct a diagnostic evaluation and determine the degree of variation and malformation.
Download or read book Advances in Research on Down Syndrome written by Subrata Dey and published by BoD – Books on Demand. This book was released on 2018-01-31 with total page 150 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a concise yet comprehensive source of current information on Down syndrome. It focuses on exciting areas of research on chromosome editing, neurogenomics and diseases associated with Down syndrome. Research workers, scientists, medical graduates and physicians will find this book as an excellent source for consultation and references. Key features of this book are chromosome engineering in Down syndrome, mental retardation and cognitive disability, prenatal diagnosis and diseases associated with Down syndrome. Although aimed primarily for research workers on Down syndrome, we hope that the appeal of this book will extend beyond the narrow confines of academic interest and be exciting to wider audience, especially parents, relatives and health care providers who work with infants and children with Down syndrome.
Download or read book Fasten Your Seatbelt written by Brian Skotko and published by Special Needs Collection. This book was released on 2009 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even the closest brothers and sisters don't always get along or understand each other. Add a disability like Down syndrome to the mix, and that sibling relationship gets even more complicated, especially for teenagers. Fasten Your Seatbelt is the first book written exclusively for teens with a brother or sister with Down syndrome. In an easy-to-read, question & answer format, it tackles a broad range of their most common issues and concerns. Nearly 100 questions--all posed by teen siblings--are grouped into the following categories: Facts and stats about Down syndrome How people with Down syndrome learn Handling parent and family conflicts Dealing with your sibling's frustrating behaviors Managing uncomfortable situations Sorting out your feelings Becoming an advocate What the future holds for you and your sibling Finding local and national resources Thoughtful, knowledgeable answers are provided by Brian Skotko, the brother of a young woman with Down syndrome, and Sue Levine, a social worker focused on sibling issues for the past 30 years. Fasten Your Seatbelt gives teens the green light to explore their own feelings and questions about their sibling with Down syndrome and how their relationship may change in the future. Wondering whats on their minds? Here are a few sample questions from the book: Why does my brother always have temper tantrums? How can one extra chromosome make someone so different? Can my sister with Down syndrome marry someday? Will my brother be able to live on his own as an adult?
Download or read book Testing Women Testing the Fetus written by Rayna Rapp and published by Routledge. This book was released on 2004-11-23 with total page 377 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rich with the voices and stories of participants, these touching, firsthand accounts examine how women of diverse racial, ethnic, class and religious backgrounds perceive prenatal testing, the most prevalent and routinized of the new reproducing technologies. Based on the author's decade of research and her own personal experiences with amniocentesis, Testing Women, Testing the Fetus explores the "geneticization" of family life in all its complexity and diversity.
Download or read book Anomaly written by Tonya Kuper and published by Entangled: Teen. This book was released on 2014-11-25 with total page 234 pages. Available in PDF, EPUB and Kindle. Book excerpt: Reality is only an illusion. Except for those who can control it... Worst. Birthday. Ever. My first boyfriend dumped me—happy birthday, Josie!—my dad is who knows where, I have some weird virus that makes me want to hurl, and now my ex is licking another girl's tonsils. Oh, and I'm officially the same age as my brother was when he died. Yeah, today is about as fun-filled as the swamps of Dagobah. But then weird things start happening... Like I make something materialize just by thinking about it. When hottily-hot badass Reid Wentworth shows up on a motorcycle, everything changes. Like, everything. Who I am. My family. What really happened to my brother. Existence. I am Oculi, and I have the ability to change reality with my thoughts. Now Reid, in all his hotness, is charged with guiding and protecting me as I begin learning how to bend reality. And he's the only thing standing between me and the secret organization that wants me dead... The Schrodinger’s Consortium series is best enjoyed in order. Reading Order: Book #1 Anomaly Book #2 Enigma
Download or read book Fetal Cardiology written by Simcha Yagel and published by CRC Press. This book was released on 2018-09-03 with total page 1895 pages. Available in PDF, EPUB and Kindle. Book excerpt: The third edition of this established reference is the product of the combined efforts of many professionals – obstetricians, pediatric cardiologists, sonographers, molecular biologists, and medical physicists – and is a comprehensive guide intended for anyone interested in scanning the fetal cardiac system.
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.
Download or read book Paediatric Rheumatology written by Helen E. Foster and published by OUP Oxford. This book was released on 2012-06-14 with total page 416 pages. Available in PDF, EPUB and Kindle. Book excerpt: Paediatric Rheumatology is an indispensible resource for the identification and management of specific rheumatological disorders. As well as covering common and rare rheumatological problems, there are also chapters on investigations and emergencies, designed for quick reference. The handbook includes dedicated topics on systemic diseases affecting rheumatology; the relevant clinical guidelines and information needed for a rheumatologist to successfully management a young patient; and, a coloured section for guidance on rash-related investigations. Paediatric Rheumatology is also fully endorsed by the British Society for Paediatric and Adolescent Rheumatology and the UK Paediatric Rheumatology Clinical Studies Group.
Download or read book Basics of Abdominal Gynaecological Obstetrics and Small Parts Ultrasound written by Rajendra K. Diwakar and published by Springer. This book was released on 2017-12-29 with total page 161 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book offers an essential guide for postgraduates, obstetricians and gynaecologists (including teaching faculty), helping them develop workflows for the early detection and assessment of high-risk pregnancies & pregnancy with IUGR using colour Doppler applications and transfontenellar cranial sonography in premature new-borns during routine ultrasonography. This book familiarizes practicing radiologists and Ob-Gyn specialists with this aspect of sonography, so as to improve perinatal outcomes.
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.
Download or read book Screening for Down s Syndrome written by J. G. Grudzinskas and published by Cambridge University Press. This book was released on 1994-11-17 with total page 364 pages. Available in PDF, EPUB and Kindle. Book excerpt: This important new publication summarises the recent exciting advances in screening for Down's syndrome. It addresses important clinical questions such as: risk assessment, who to screen, when to screen, which techniques to use, and the organisation of screening programmes nationally and internationally. An international and authoritative team of authors has been invited to assess the latest developments in this rapidly advancing area. The volume provides a critical and much needed evaluation of the potential and limitations of new and established techniques for screening for Down's syndrome. It will serve as an essential source of information for all those involved in pre-natal diagnosis and the provision of obstetric care.
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.
