Trisomy 18

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Perinatal Neuropathology

Author : Mirna Lechpammer
Publisher :
ISBN 13 : 9781316671863
Total Pages : pages
Book Rating : 4.6/5 (718 download)

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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"--

Living with Trisomy 18 / Edwards Syndrome

Author : Josie Murrell
Publisher : Xlibris Corporation
ISBN 13 : 1479793515
Total Pages : 186 pages
Book Rating : 4.4/5 (797 download)

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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

Cassidy and Allanson's Management of Genetic Syndromes

Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.1/5 (194 download)

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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.

Management of Genetic Syndromes

Author : Suzanne B. Cassidy
Publisher : John Wiley & Sons
ISBN 13 : 1118210670
Total Pages : 1678 pages
Book Rating : 4.1/5 (182 download)

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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

I Am Not a Syndrome - My Name Is Simon

Author : Sheryl Crosier
Publisher :
ISBN 13 : 9781937376161
Total Pages : 224 pages
Book Rating : 4.3/5 (761 download)

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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.

Cardioskeletal Myopathies in Children and Young Adults

Author : John Lynn Jefferies
Publisher : Academic Press
ISBN 13 : 0128005807
Total Pages : 422 pages
Book Rating : 4.1/5 (28 download)

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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 422 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

Down Syndrome: From Understanding the Neurobiology to Therapy

Author :
Publisher : Elsevier
ISBN 13 : 0444543007
Total Pages : 273 pages
Book Rating : 4.4/5 (445 download)

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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

Muscular and Skeletal Anomalies in Human Trisomy in an Evo-Devo Context

Author : Rui Diogo
Publisher : CRC Press
ISBN 13 : 1498711383
Total Pages : 221 pages
Book Rating : 4.4/5 (987 download)

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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

Pediatric Liver Tumors

Author : Arthur Zimmermann
Publisher : Springer Science & Business Media
ISBN 13 : 3642145043
Total Pages : 234 pages
Book Rating : 4.6/5 (421 download)

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Book Synopsis Pediatric Liver Tumors by : Arthur Zimmermann

Download or read book Pediatric Liver Tumors written by Arthur Zimmermann and published by Springer Science & Business Media. This book was released on 2011-01-18 with total page 234 pages. Available in PDF, EPUB and Kindle. Book excerpt: The field of liver tumors in children has seen tremendous therapeutic advances over recent years. This has been achieved through a much better understanding of the biology of disease, improved diagnostic procedures, refined methods of pretreatment tumor staging, the implementation of highly efficient chemotherapy and surgery, detailed monitoring of toxicity, and careful follow-up strategies. International controlled trials have played a key role in these advances, and many leading figures in the trials are among the editors and authors of this book. Their principal goal in Hepatic Tumors in Children is to provide the reader with a complete update on this complex and rapidly evolving field. All aspects of an impressive success story are covered, disclosing how the outcome of a previously devastating disease has been so dramatically improved. This book will prove essential reading for all who are involved in the care of children with liver tumors.

Blake's Story: Our Journey with Trisomy 18

Author : Jadyn Evans
Publisher :
ISBN 13 : 9781981502028
Total Pages : 70 pages
Book Rating : 4.5/5 (2 download)

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Book Synopsis Blake's Story: Our Journey with Trisomy 18 by : Jadyn Evans

Download or read book Blake's Story: Our Journey with Trisomy 18 written by Jadyn Evans and published by . This book was released on 2017-09-05 with total page 70 pages. Available in PDF, EPUB and Kindle. Book excerpt: A mother's journey with her son diagnosed with Trisomy 18.

Trisomy 18

Author :
Publisher :
ISBN 13 : 9781889843728
Total Pages : 52 pages
Book Rating : 4.8/5 (437 download)

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Book Synopsis Trisomy 18 by :

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.

MRCOG Part One

Author : Alison Fiander
Publisher : Cambridge University Press
ISBN 13 : 1107667135
Total Pages : 557 pages
Book Rating : 4.1/5 (76 download)

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Book Synopsis MRCOG Part One by : Alison Fiander

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.

Common Malformations

Author : Lewis B. Holmes
Publisher : OUP USA
ISBN 13 : 0195136020
Total Pages : 481 pages
Book Rating : 4.1/5 (951 download)

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Book Synopsis Common Malformations by : Lewis B. Holmes

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.

Mutagenicity: Assays and Applications

Author : Ashutosh Kumar
Publisher : Academic Press
ISBN 13 : 0128092602
Total Pages : 352 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Mutagenicity: Assays and Applications by : Ashutosh Kumar

Download or read book Mutagenicity: Assays and Applications written by Ashutosh Kumar and published by Academic Press. This book was released on 2017-09-26 with total page 352 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mutagenicity: Assays and Applications presents an extensive examination of the detection, assessment and future of mutagenicity, particularly as it concerns human health and the environment. Chapters focused on specific types of mutagens or testing methods for their detection collectively explore the current state of human and environmental mutagenesis, future perspectives and regulatory needs. The test procedures for measuring mutagenicity, their advantages and limitations are described with practical and procedural detail, along with their presentation and data processing aspects. It is an essential reference covering the breadth and depth of the field of mutagenicity studies and regulation. By providing both important introductory material and practical assays and applications, this book is useful to graduate students, academic and industry researchers and regulators at various stages of their careers, leading to improved risk assessment and regulation. Presents an up-to-date and in-depth review of the current state of mutagenesis research Draws upon the combined experience and expertise of an international group of highly respected editors and chapter authors Provides an introduction to the concept of mutagenesis with particular consideration given to novel chemicals and materials

Clinical Ethics in Pediatrics

Author : Douglas S. Diekema
Publisher : Cambridge University Press
ISBN 13 : 1139501836
Total Pages : 263 pages
Book Rating : 4.1/5 (395 download)

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Book Synopsis Clinical Ethics in Pediatrics by : Douglas S. Diekema

Download or read book Clinical Ethics in Pediatrics written by Douglas S. Diekema and published by Cambridge University Press. This book was released on 2011-09-08 with total page 263 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume provides a practical overview of the ethical issues arising in pediatric practice. The case-based approach grounds the bioethical concepts in real-life situations, covering a broad range of important and controversial topics, including informed consent, confidentiality, truthfulness and fidelity, ethical issues relating to perinatology and neonatology, end-of-life issues, new technologies, and problems of justice and public health in pediatrics. A dedicated section also addresses the topics of professionalism, including boundary issues, conflicts of interests and relationships with industry, ethical issues arising during training, and dealing with the impaired or unethical colleague. Each chapter contains a summary of the key issues covered and recommendations for approaching similar situations in other contexts. Clinical Ethics in Pediatrics: A Case-Based Textbook is an essential resource for all physicians who care for children, as well as medical educators, residents and scholars in clinical bioethics.

Handbook of Fetal Medicine

Author : Sailesh Kumar
Publisher : Cambridge University Press
ISBN 13 : 1139488813
Total Pages : pages
Book Rating : 4.1/5 (394 download)

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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.

Noninvasive Prenatal Testing (NIPT)

Author : Lieve Page-Christiaens
Publisher : Academic Press
ISBN 13 : 0128141905
Total Pages : 408 pages
Book Rating : 4.1/5 (281 download)

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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