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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 Edward's Syndrome by : Dr Cathrine Ulber
Download or read book Edward's Syndrome written by Dr Cathrine Ulber and published by Independently Published. This book was released on 2023-06-21 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Edwards syndrome, additionally referred to as trisomy 18, is a very severe genetic circumstance that influences how your baby's body develops and grows. Kids diagnosed with trisomy 18 have a low birth weight, more than one beginning defects and defining bodily characteristics. Who does Edwards syndrome (trisomy 18) have an effect on? Edwards syndrome (trisomy 18) can affect anyone. The circumstance takes place while someone has an extra copy of chromosome 18, which is random and unpredictable. The chance that a parent may have a toddler with Edwards syndrome (trisomy 18) increases with maternal age at the time of pregnancy. If a figure had a infant with Edwards syndrome (trisomy 18) and will become pregnant again, it's unlikely they'll have another child identified with the same situation (no extra than 1%). How not unusual is Edwards syndrome (trisomy 18)? Edwards syndrome (trisomy 18) happens in an envisioned 1 out of each five,000 to six,000 stay births. The condition is greater common for the duration of being pregnant (1 out of each 2,500 pregnancies), however most (as a minimum 95%) fetuses don't live to tell the tale full term due to complications from the analysis, so pregnancies can lead to miscarriage or babies are stillborn. A miscarriage (also known as a spontaneous abortion) is the sudden ending of a pregnancy in the first 20 weeks of gestation. Simply as it's known as a "miscarriage" doesn't imply you did something incorrect in carrying the being pregnant. Maximum miscarriages are past your manipulate and arise due to the fact the fetus stops developing.
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 In the Kingdom of the Sick by : Laurie Edwards
Download or read book In the Kingdom of the Sick written by Laurie Edwards and published by Bloomsbury Publishing USA. This book was released on 2013-04-09 with total page 255 pages. Available in PDF, EPUB and Kindle. Book excerpt: Citing a high percentage of Americans who live with chronic illness, an urgent call to action draws on scientific research and patient narratives to explore the role of social medial in medical advocacy, arguing that we must change attitudes about the link between health and lifestyle and provide appropriate and compassionate treatments. By the award-winning author of Life Disrupted. 25,000 first printing.
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
Download or read book Life Disrupted written by Laurie Edwards and published by Bloomsbury Publishing USA. This book was released on 2011-02-01 with total page 288 pages. Available in PDF, EPUB and Kindle. Book excerpt: Twenty-seven-year-old Laurie Edwards is one of 125 million Americans who have a chronic illness, in her case a rare genetic respiratory disease. Because of medical advances in the treatment of serious childhood diseases, 600,000 chronically ill teens enter adulthood every year who decades ago would not have survived-they and people diagnosed in adulthood face the same challenges of college, career, and starting a family as others in their twenties and thirties, but with the added circumstance of having chronic illness. Life Disrupted is a personal and unflinching guide to living well with a chronic illness: managing your own health care without letting it take over your life, dealing with difficult doctors and frequent hospitalizations, having a productive and satisfying career that accommodates your health needs, and nurturing friendships and a loving, committed relationship regardless of recurring health problems. Laurie Edwards also addresses the particular needs of people who have more than one chronic illness or who are among the twenty-five million Americans with a rare disorder. She shares her own story and the experiences of others with chronic illness, as well as advice from life coaches, employment specialists, and health professionals. Reading Life Disrupted is like having a best friend and mentor who truly does know what you're going through.
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 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
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 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.
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.
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.
Book Synopsis Craniofacial Microsomia and Treacher Collins Syndrome by : David M. Yates
Download or read book Craniofacial Microsomia and Treacher Collins Syndrome written by David M. Yates and published by Springer Nature. This book was released on 2022-01-03 with total page 516 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book provides a framework for diagnosis and treatment of the complex facial deformities found in craniofacial microsomia and Treacher Collins syndrome. These conditions are difficult to treat due to their complexity and variable presentation. The deformities may be mild or severe and merely cosmetic to life-threatening in nature. These conditions often manifest as complex facial deformities that require multiple surgical interventions. Timing is critical when treating these patients and knowing and choosing the correct operation is key to successful outcomes. This work provides a comprehensive approach in treating these complex patient populations, seeking to answer the following questions: When to operate versus when to wait? If operating is required what operation should be performed? What is the best orthodontic approach to the associated dental deformities that develop with these conditions? How should sleep apnea be evaluated and treated in this population? What is the best management for feeding patients with these conditions? Written by experts in the field, Craniofacial Microsomia and Treacher Collins Syndrome: Comprehensive Treatment of Associated Facial Deformities aims to provide the reader with literature based best practices in treating these children from the NICU through childhood and into adulthood.
Book Synopsis Ophthalmic Genetic Diseases by : Natario L. Couser
Download or read book Ophthalmic Genetic Diseases written by Natario L. Couser and published by . This book was released on 2018-09-24 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides current, clinically focused information on more than 400 genetic eye diseases.
Book Synopsis Insight Into Spiritualism by : John McNicol
Download or read book Insight Into Spiritualism written by John McNicol and published by . This book was released on 1971 with total page 25 pages. Available in PDF, EPUB and Kindle. Book excerpt:
