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Book Genetic Disorders  Syndromology and Prenatal Diagnosis

Download or read book Genetic Disorders Syndromology and Prenatal Diagnosis written by T.V.N. Persaud and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 257 pages. Available in PDF, EPUB and Kindle. Book excerpt: Birth defects have assumed an importance even greater now than in the past because infant mortality rates attributed to congenital anomalies have declined far less than those for other causes of death, such as infectious and nutritional diseases. As many as 50 % of all pregnancies terminate as miscarriages, and in the majority of cases this is the result of faulty intrauterine development. Major congenital malformations are present in at least 2 % of all liveborn infants, and 22 % of all stillbirths and infant deaths are associated with severe congenital anomalies. Not surprisingly, there has been a great proliferation of research into the problems of developmental abnormalities over the past few decades. This series, Advances in the Study of Birth Defects, was conceived in order to provide a comprehensive focal source of up-to-date information for physi cians concerned with the health of the unborn child and for research workers in the fields of fetal medicine and birth defects. The first four volumes featured recent experimental work on selected areas of high priority and intensive investigation, including mechanisms of teratogenesis, teratological evaluation, molecular and cellular aspects of abnormal development, and neural and behavioural teratology. It seems logical and timely that the clinical aspects should now be presented. Accordingly, leading experts were invited to review a broad range of common problems from the standpoint of embryology, aetiology, clinical manifestations, diagnosis and management. This volume deals with genetic disorders and prenatal diagnosis.

Book Genetic Disorders and the Fetus

Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by John Wiley & Sons. This book was released on 2011-09-07 with total page 1494 pages. Available in PDF, EPUB and Kindle. Book excerpt: Highly Commended in the Obstetrics and Gynaecology category of the 2010 BMA Medical Book Competition Brand new edition of the world's leading text on prenatal diagnosis This 6th Edition of Genetic Disorders and the Fetus maintains it's pre-eminence as the major repository of facts about prenatal diagnosis. It provides a critical analysis and synthesis of established and new knowledge based on the long experience of authorities in their respective fields. A broad international perspective is presented through authoritative contributions from authors in 11 countries. All chapters and guidelines have been updated to reflect contemporary practice. New chapters have been introduced on: The use of chromosomal microarrays in prenatal diagnosis The social, legal and public policy issues with special reference to international approaches The important peroxisomal and related fatty acid oxidation disorders Extensive tables and clear illustrations assist in differential diagnosis, gene identification and diagnostic modes. The recognition of many new and unresolved challenges should provide inspiration for novel research initiatives. The guidance provided and the insights and perspectives of these authors make this volume a valuable and indispensable resource for all whose focus is securing fetal health through prenatal diagnosis. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment is an essential resource for all engaged in prenatal genetic diagnosis, especially obstetricians, maternal-fetal medicine specialists, medical geneticists, genetic counsellors, and pediatricians, but also many other specialties.

Book Mitochondrial Dysfunction

Download or read book Mitochondrial Dysfunction written by Lawrence H. Lash and published by Elsevier. This book was released on 2013-10-22 with total page 527 pages. Available in PDF, EPUB and Kindle. Book excerpt: Methods in Toxicology, Volume 2: Mitochondrial Dysfunction provides a source of methods, techniques, and experimental approaches for studying the role of abnormal mitochondrial function in cell injury. The book discusses the methods for the preparation and basic functional assessment of mitochondria from liver, kidney, muscle, and brain; the methods for assessing mitochondrial dysfunction in vivo and in intact organs; and the structural aspects of mitochondrial dysfunction are addressed. The text also describes chemical detoxification and metabolism as well as specific metabolic reactions that are especially important targets or indicators of damage. The methods for measurement of alterations in fatty acid and phospholipid metabolism and for the analysis and manipulation of oxidative injury and antioxidant systems are also considered. The book further tackles additional methods on mitochondrial energetics and transport processes; approaches for assessing impaired function of mitochondria; and genetic and developmental aspects of mitochondrial disease and toxicology. The text also looks into mitochondrial DNA synthesis, covalent binding to mitochondrial DNA, DNA repair, and mitochondrial dysfunction in the context of developing individuals and cellular differentiation. Microbiologists, toxicologists, biochemists, and molecular pharmacologists will find the book invaluable.

Book Genetics and the Law III

    Book Details:
  • Author : Aubrey Milunsky
  • Publisher : Springer Science & Business Media
  • Release : 2013-11-11
  • ISBN : 1468449524
  • Pages : 485 pages

Download or read book Genetics and the Law III written by Aubrey Milunsky and published by Springer Science & Business Media. This book was released on 2013-11-11 with total page 485 pages. Available in PDF, EPUB and Kindle. Book excerpt: It was the best of times, it was the worst of times, it was the age of wisdom, it was the age of foolishness, it was the epoch of belief, it was the epoch of incredulity, ... it was the spring of hope, it was the winter of despair. . . . -Charles Dickens, A Tale of Two Cities Dickens, of course, did not have the contemporary dilemmas of modern genetics in mind. Indeed, we need to remind ourselves how short the history of modern genetics really is. Recognition that genetic traits are carried by deoxyribonucleic acid (DNA) occurred only about 40 years ago. Knowledge of the three-dimensional structure of DNA is only about 30 years old. The correct number of human chromosomes was not deter mined until the mid-1950s, and Down syndrome was recognized only in 1959. It was not until in 1968 that the exact location of a gene was determined on an autosomal chromo some, and the study of genes, rather than their protein products, has been possible for barely a decade.

Book Current Catalog

    Book Details:
  • Author : National Library of Medicine (U.S.)
  • Publisher :
  • Release : 1983
  • ISBN :
  • Pages : 1442 pages

Download or read book Current Catalog written by National Library of Medicine (U.S.) and published by . This book was released on 1983 with total page 1442 pages. Available in PDF, EPUB and Kindle. Book excerpt: First multi-year cumulation covers six years: 1965-70.

Book Understanding Gene Testing

Download or read book Understanding Gene Testing written by and published by . This book was released on 1997 with total page 42 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Book National Library of Medicine Current Catalog

Download or read book National Library of Medicine Current Catalog written by National Library of Medicine (U.S.) and published by . This book was released on 1983 with total page 1456 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Book Biomedical Ethics and Fetal Therapy

Download or read book Biomedical Ethics and Fetal Therapy written by Carl Nimrod and published by Wilfrid Laurier Univ. Press. This book was released on 2006-01-01 with total page 137 pages. Available in PDF, EPUB and Kindle. Book excerpt: “Over the last two decades, medical researchers have become more comfortable with the idea that serious attention must be given to ethical issues when the tests of new technologies are being designed. They have come to see that experimental trials must meet certain standards, not only of scientific rigour, but also of moral acceptability.” (Introduction) Presented by an international group of experts, the eight essays included in this volume evaluate the new technologies in fetal care and also wrestle with the new problems, often moral ones, that have accompanied techonological advancement. The opening chapters review state-of-the-art ultrasound imaging and molecular genetics and focus on the new patient—the fetus. From here, the efficacy of fetal therapy, the problem of assessing long-term viability, the ethical issues involved in both clinical practice and medical research, and the legal rights of the new patients and their parents are examined. The final chapter “Are Fetuses Becoming Children?” brings a fresh philosophical perspective to the question of a fetus’s status and rights.

Book Pediatric Pathology

    Book Details:
  • Author : J. Thomas Stocker
  • Publisher : Lippincott Williams & Wilkins
  • Release : 2001
  • ISBN : 9780781717748
  • Pages : 788 pages

Download or read book Pediatric Pathology written by J. Thomas Stocker and published by Lippincott Williams & Wilkins. This book was released on 2001 with total page 788 pages. Available in PDF, EPUB and Kindle. Book excerpt: This newly revised Second Edition has been reorganized to emphasize the practical aspects of pediatric pathology. The two-volume text is separated into two easy-to-follow sections, General Pathology and Organ System Pathology. Includes up-to-date coverage on AIDS, new diagnostic techniques, etiologic agents and drug reactions, and tumors. Nearly 1,200 illustrations supplement the text. This one-of-a-kind preeminent reference is a must for both practitioners and students who are connected with the practice of pediatric pathology. Compatibility: BlackBerry(R) OS 4.1 or Higher / iPhone/iPod Touch 2.0 or Higher /Palm OS 3.5 or higher / Palm Pre Classic / Symbian S60, 3rd edition (Nokia) / Windows Mobile(TM) Pocket PC (all versions) / Windows Mobile Smartphone / Windows 98SE/2000/ME/XP/Vista/Tablet PC

Book Teratology

Download or read book Teratology written by and published by . This book was released on 1989 with total page 780 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Book Embryo and Fetal Pathology

    Book Details:
  • Author : Enid Gilbert-Barness
  • Publisher : Cambridge University Press
  • Release : 2004-05-31
  • ISBN : 9781139451741
  • Pages : 706 pages

Download or read book Embryo and Fetal Pathology written by Enid Gilbert-Barness and published by Cambridge University Press. This book was released on 2004-05-31 with total page 706 pages. Available in PDF, EPUB and Kindle. Book excerpt: Exhaustively illustrated in color with over 1000 photographs, figures, histopathology slides, and sonographs, this uniquely authoritative atlas provides the clinician with a visual guide to diagnosing congenital anomalies, both common and rare, in every organ system in the human fetus. It covers the full range of embryo and fetal pathology, from point of death, autopsy and ultrasound, through specific syndromes, intrauterine problems, organ and system defects to multiple births and conjoined twins. Gross pathologic findings are correlated with sonographic features in order that the reader may confirm visually the diagnosis of congenital abnormalities for all organ systems. Obstetricians, perinatologists, neonatologists, geneticists, anatomic pathologists, and all practitioners of maternal-fetal medicine will find this atlas an invaluable resource.

Book Personalized Food Intervention and Therapy for Autism Spectrum Disorder Management

Download or read book Personalized Food Intervention and Therapy for Autism Spectrum Disorder Management written by M. Mohamed Essa and published by Springer Nature. This book was released on 2020-01-31 with total page 700 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book focuses on implications of traditional and processed foods for autism spectrum disorder (ASD) intervention and management. Numerous phytonutrients and pharmacologically active compounds in edible natural products and diet could influence and offer protection to neuronal dysfunction that occurs due to ASD. The neuroprotective effects of various fruits, vegetables, nuts and seeds phytochemicals, and other natural bioactive ingredients against ASD and related conditions are discussed. Topics such as the possible neuroprotective mechanism of action of these foods and the therapeutic role of antioxidants in relation to ASD are addressed. This book also highlights the scope of using anti-inflammatory agents and antioxidants to promote neurogenesis and improve other symptoms in ASD. It emphasizes personalized nutritional approaches with dietary management of neurodevelopmental disorders/ASD cases. Information in this book is relevant to researchers in the field of complementary and alternative medicine, nutraceuticals, neuroscience, agriculture, nutrition, and food science. This volume is beneficial to students of varying levels, and across multiple disciplines.

Book The Genetics of Hand Malformations

Download or read book The Genetics of Hand Malformations written by Samia A. Temtamy and published by Alan R. Liss. This book was released on 1978 with total page 596 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Book Cassidy and Allanson s Management of Genetic Syndromes

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 Genetic Disorders and the Fetus

Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by John Wiley & Sons. This book was released on 2015-09-21 with total page 1216 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline-leading text that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years. The seventh edition continues the long-established tradition of excellence that has become synonymous with this text. The book builds on the foundations of preconception and prenatal genetic counseling and the original pillars of prenatal diagnosis while also providing authoritative coverage of exciting developments in non-invasive genetic testing and rapidly developing molecular techniques, including microarray analysis and next generation sequencing, that are revolutionizing the field. Chapters are once again authored by internationally recognized authorities in the field of prenatal diagnosis. The editors have added three entirely new chapters to this edition to complement the complete revision of existing content. The three new chapters focus on non-invasive prenatal screening, placental genetics, and the psychology of prenatal and perinatal grief. The broad-ranging coverage and international scope will ensure that the new edition maintains its role as the major repository for information on all aspects of prenatal diagnosis. The editors have brought together an invaluable collection of evidence-based facts bolstered by knowledge and decades of experience in the field. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 7th Edition is a timely update to this world-leading text.

Book Genetic Disorders and the Fetus

Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by John Wiley & Sons. This book was released on 2015-11-09 with total page 1216 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline-leading text that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years. The seventh edition continues the long-established tradition of excellence that has become synonymous with this text. The book builds on the foundations of preconception and prenatal genetic counseling and the original pillars of prenatal diagnosis while also providing authoritative coverage of exciting developments in non-invasive genetic testing and rapidly developing molecular techniques, including microarray analysis and next generation sequencing, that are revolutionizing the field. Chapters are once again authored by internationally recognized authorities in the field of prenatal diagnosis. The editors have added three entirely new chapters to this edition to complement the complete revision of existing content. The three new chapters focus on non-invasive prenatal screening, placental genetics, and the psychology of prenatal and perinatal grief. The broad-ranging coverage and international scope will ensure that the new edition maintains its role as the major repository for information on all aspects of prenatal diagnosis. The editors have brought together an invaluable collection of evidence-based facts bolstered by knowledge and decades of experience in the field. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 7th Edition is a timely update to this world-leading text.

Book Isozymes

Download or read book Isozymes written by Mario C. Rattazzi and published by . This book was released on 1983 with total page 342 pages. Available in PDF, EPUB and Kindle. Book excerpt: