Read Books Online and Download eBooks, EPub, PDF, Mobi, Kindle, Text Full Free.
Unravelling The Basis Of Non Invasive Prenatal Screening Results
Download Unravelling The Basis Of Non Invasive Prenatal Screening Results full books in PDF, epub, and Kindle. Read online Unravelling The Basis Of Non Invasive Prenatal Screening Results ebook anywhere anytime directly on your device. Fast Download speed and no annoying ads. We cannot guarantee that every ebooks is available!
Book Synopsis Unravelling the Basis of Non-Invasive Prenatal Screening Results by : Luigia De Falco
Download or read book Unravelling the Basis of Non-Invasive Prenatal Screening Results written by Luigia De Falco and published by Frontiers Media SA. This book was released on 2023-08-07 with total page 96 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Clinical Applications for Next-Generation Sequencing by : Urszula Demkow
Download or read book Clinical Applications for Next-Generation Sequencing written by Urszula Demkow and published by Academic Press. This book was released on 2015-09-10 with total page 336 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients. The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia. - Fills the gap between state-of-the-art technology and evidence-based practice - Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment - Promotes a practical tool that clinicians can apply directly to patient care - Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases - Presents evidence regarding the important role of NGS in current diagnostic strategies
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 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
Book Synopsis Genetics and Genomics of Eye Disease by : Xiaoyi Raymond Gao
Download or read book Genetics and Genomics of Eye Disease written by Xiaoyi Raymond Gao and published by Academic Press. This book was released on 2019-09-12 with total page 386 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research. - Offers thorough guidance on conducting genetic and genomic studies of eye disease - Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders - Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling
Book Synopsis Oxford Textbook of Obstetrics and Gynaecology by : Sabaratnam Arulkumaran
Download or read book Oxford Textbook of Obstetrics and Gynaecology written by Sabaratnam Arulkumaran and published by Oxford University Press. This book was released on 2020-01-16 with total page 2226 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Oxford Textbook of Obstetrics and Gynaecology is an objective and readable text that covers the full speciality of obstetrics and gynaecology. This comprehensive and rigorously referenced textbook will be a vital resource in print and online for all practising clinicians. Edited by a team of four leading figures in the field, whose clinical and scientific backgrounds collectively cover the whole spectrum of obstetrics and gynaecology with particular expertise in fetomaternal medicine and obstetrics, gynaecological oncology, urogynaecology, and reproductive medicine, the textbook helps inform and promote evidence-based practice and improve clinical outcomes worldwide across all facets of the discipline. The editors are supported by contributors who are internationally renowned specialists and ensure high quality and global perspective to the work. Larger sections on the Basics in Obstetrics and Gynaecology, Fetomaternal Medicine, Management of Labour, Gynaecological problems, and Gynaecological Oncology are complimented by specialist sections on areas such as Neonatal Care and Neonatal Problems, Reproductive Medicine, and Urogynaecology and Pelvic Floor Disorders to name a few. The evidence-based presentation of diagnostic and therapeutic methods is complemented in the text by numerous treatment algorithms, giving the reader the knowledge and tools needed for effective clinical practice. The Oxford Textbook of Obstetrics and Gynaecology is essential reading for obstetricians and gynaecologists, subspecialists, and trainees across the world.
Book Synopsis Human Genetics and Genomics by : Bruce R. Korf
Download or read book Human Genetics and Genomics written by Bruce R. Korf and published by John Wiley & Sons. This book was released on 2012-11-19 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.
Book Synopsis Placental and Gestational Pathology with Online Resource by : Raymond W. Redline
Download or read book Placental and Gestational Pathology with Online Resource written by Raymond W. Redline and published by Cambridge University Press. This book was released on 2018-08-23 with total page 367 pages. Available in PDF, EPUB and Kindle. Book excerpt: A guide to identifying disease processes in the placenta affecting pregnancy outcome, with current diagnostic criteria and clinical consequences.
Book Synopsis Your Genes, Your Choices by : Catherine Baker
Download or read book Your Genes, Your Choices written by Catherine Baker and published by . This book was released on 1996 with total page 96 pages. Available in PDF, EPUB and Kindle. Book excerpt: Program discusses the Human Genome Project, the science behind it, and the ethical, legal and social issues raised by the project.
Book Synopsis Guidelines for the Care and Use of Mammals in Neuroscience and Behavioral Research by : National Research Council
Download or read book Guidelines for the Care and Use of Mammals in Neuroscience and Behavioral Research written by National Research Council and published by National Academies Press. This book was released on 2003-08-22 with total page 223 pages. Available in PDF, EPUB and Kindle. Book excerpt: Expanding on the National Research Council's Guide for the Care and Use of Laboratory Animals, this book deals specifically with mammals in neuroscience and behavioral research laboratories. It offers flexible guidelines for the care of these animals, and guidance on adapting these guidelines to various situations without hindering the research process. Guidelines for the Care and Use of Mammals in Neuroscience and Behavioral Research offers a more in-depth treatment of concerns specific to these disciplines than any previous guide on animal care and use. It treats on such important subjects as: The important role that the researcher and veterinarian play in developing animal protocols. Methods for assessing and ensuring an animal's well-being. General animal-care elements as they apply to neuroscience and behavioral research, and common animal welfare challenges this research can pose. The use of professional judgment and careful interpretation of regulations and guidelines to develop performance standards ensuring animal well-being and high-quality research. Guidelines for the Care and Use of Mammals in Neuroscience and Behavioral Research treats the development and evaluation of animal-use protocols as a decision-making process, not just a decision. To this end, it presents the most current, in-depth information about the best practices for animal care and use, as they pertain to the intricacies of neuroscience and behavioral research.
Book Synopsis Molecular Epidemiology by : Paul A. Schulte
Download or read book Molecular Epidemiology written by Paul A. Schulte and published by Academic Press. This book was released on 2012-12-02 with total page 609 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book will serve as a primer for both laboratory and field scientists who are shaping the emerging field of molecular epidemiology. Molecular epidemiology utilizes the same paradigm as traditional epidemiology but uses biological markers to identify exposure, disease or susceptibility. Schulte and Perera present the epidemiologic methods pertinent to biological markers. The book is also designed to enumerate the considerations necessary for valid field research and provide a resource on the salient and subtle features of biological indicators.
Book Synopsis Fasten Your Seatbelt by : Brian Skotko
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?
Book Synopsis The Future of the Public's Health in the 21st Century by : Institute of Medicine
Download or read book The Future of the Public's Health in the 21st Century written by Institute of Medicine and published by National Academies Press. This book was released on 2003-02-01 with total page 536 pages. Available in PDF, EPUB and Kindle. Book excerpt: The anthrax incidents following the 9/11 terrorist attacks put the spotlight on the nation's public health agencies, placing it under an unprecedented scrutiny that added new dimensions to the complex issues considered in this report. The Future of the Public's Health in the 21st Century reaffirms the vision of Healthy People 2010, and outlines a systems approach to assuring the nation's health in practice, research, and policy. This approach focuses on joining the unique resources and perspectives of diverse sectors and entities and challenges these groups to work in a concerted, strategic way to promote and protect the public's health. Focusing on diverse partnerships as the framework for public health, the book discusses: The need for a shift from an individual to a population-based approach in practice, research, policy, and community engagement. The status of the governmental public health infrastructure and what needs to be improved, including its interface with the health care delivery system. The roles nongovernment actors, such as academia, business, local communities and the media can play in creating a healthy nation. Providing an accessible analysis, this book will be important to public health policy-makers and practitioners, business and community leaders, health advocates, educators and journalists.
Book Synopsis SILENT RISK by : Jason H. Collins, MD, MSCR
Download or read book SILENT RISK written by Jason H. Collins, MD, MSCR and published by Xlibris Corporation. This book was released on 2013-10 with total page 116 pages. Available in PDF, EPUB and Kindle. Book excerpt: With an estimated 8,000 deaths per year in the United States from complications of UCA, an initial goal of 50% reduction of loss is possible. To achieve this goal requires the recognition by the obstetrical community of the issue. Recent research into circadian rhythms may help explain why UCA stillbirth is an event between 2:00 a.m. and 4:00 a.m. Melatonin has been described as stimulating uterine contractions through the M2 receptor. Melatonin secretion from the pineal gland begins around 10:00 p.m. and peaks to 60 pg at 3:00 a.m. Serum levels decline to below 10 pg by 6:00 a.m. Uterine stimulation intensifies during maternal sleep, which can be overwhelming to a compromised fetus, especially one experiencing intermittent umbilical cord compression due to UCA. It is now time for the focus to be on screening for UCA, managing UCA prenatally, and delivery of the baby in distress defined by the American College of Obstetricians and Gynecologists as a heart rate of 90 beats per minute for 1 minute on a recorded nonstress test. The ability of ultrasound and magnetic resonance imaging (MRI) to visualize UCA is well documented. The 18 20 week ultrasound review should include the umbilical cord, its characteristics, and description of its placental and fetal attachment. The American Association of Ultrasound Technologists has defined these parameters for umbilical cord abnormalities: B.1.4 Abnormal insertion B.1.5 Vasa previa B.1.6 Abnormal composition B.1.7 Cysts, hematomas, and masses B.1.8 Umbilical cord thrombosis B.1.9 Coiling, collapse, knotting, and prolapse B.1.10 Umbilical cord evaluation with sonography includes the appearance, composition, location, and size of the cord Cord Events: Although many stillbirths are attributed to a cord accident, this diagnosis should be made with caution. Cord abnormalities, including a Nuchal Cord, are found in approximately 30% of normal births and may be an incidental finding. (American College of Obstetrics and Gynecology Practice Bulletin 2009) According to NICHD's recent stillbirth study, UCA is a significant cause of mortality (10%). This finding is in agreement with other international UCA studies. (Bukowski et al. 2011) These histologic criteria identify cases of cord accident as a cause of stillbirth with very high specificity. (Dilated fetal vessels, thrombosis in fetal vessels, avascular placental villi.) (Pediatr Dev Pathol 2012) Finally, defining the morbidity (injury) of cord compression, such as fetal neurologic injury or heart injury identified with umbilical cord blood troponin T levels or pulmonary injury, is the next major area of investigation.
Download or read book Cytogenomics written by Thomas Liehr and published by Academic Press. This book was released on 2021-05-25 with total page 430 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book's second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. - Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies - Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease - Features chapter contributions from international leaders in the field
Book Synopsis Molecular Diagnostics: Promises and Possibilities by : Mousumi Debnath
Download or read book Molecular Diagnostics: Promises and Possibilities written by Mousumi Debnath and published by Springer Science & Business Media. This book was released on 2010-01-29 with total page 527 pages. Available in PDF, EPUB and Kindle. Book excerpt: A rapid development in diverse areas of molecular biology and genetic engineering resulted in emergence of variety of tools. These tools are not only applicable to basic researches being carried out world over, but also exploited for precise detection of abnormal conditions in plants, animals and human body. Although a basic researcher is well versed with few techniques used by him/her in the laboratory, they may not be well acquainted with methodologies, which can be used to work out some of their own research problems. The picture is more blurred when the molecular diagnostic tools are to be used by physicians, scientists and technicians working in diagnostic laboratories in hospitals, industry and academic institutions. Since many of them are not trained in basics of these methods, they come across several gray areas in understanding of these tools. The accurate application of molecular diagnostic tools demands in depth understanding of the methodology for precise detection of the abnormal condition of living body. To meet the requirements of a good book on molecular diagnostics of students, physicians, scientists working in agricultural, veterinary, medical and pharmaceutical sciences, it needs to expose the reader lucidly to: Give basic science behind commonly used tools in diagnostics Expose the readers to detailed applications of these tools and Make them aware the availability of such diagnostic tools The book will attract additional audience of pathologists, medical microbiologists, pharmaceutical sciences, agricultural scientists and veterinary doctors if the following topics are incorporated at appropriate places in Unit II or separately as a part of Unit-III in the book. Molecular diagnosis of diseases in agricultural crops Molecular diagnosis of veterinary diseases. Molecular epidemiology, which helps to differentiate various epidemic strains and sources of disease outbreaks. Even in different units of the same hospital, the infections could be by different strains of the same species and the information becomes valuable for infection control strategies. Drug resistance is a growing problem for bacterial, fungal and parasitic microbes and the molecular biology tools can help to detect the drug resistance genes without the cultivation and in vitro sensitivity testing. Molecular diagnostics offers faster help in the selection of the proper antibiotic for the treatment of tuberculosis, which is a major problem of the in the developing world. The conventional culture and drug sensitivity testing of tuberculosis bacilli is laborious and time consuming, whereas molecular diagnosis offers rapid drug resistant gene detection even from direct clinical samples. The same approach for HIV, malaria and many more diseases needs to be considered. Molecular diagnostics in the detection of diseases during foetal life is an upcoming area in the foetal medicine in case of genetic abnormalities and infectious like TORCH complex etc. The book will be equally useful to students, scientists and professionals working in the field of molecular diagnostics.
Book Synopsis Prenatal Testing and Disability Rights by : Erik Parens
Download or read book Prenatal Testing and Disability Rights written by Erik Parens and published by Georgetown University Press. This book was released on 2000-09-28 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: As prenatal tests proliferate, the medical and broader communities perceive that such testing is a logical extension of good prenatal care—it helps parents have healthy babies. But prenatal tests have been criticized by the disability rights community, which contends that advances in science should be directed at improving their lives, not preventing them. Used primarily to decide to abort a fetus that would have been born with mental or physical impairments, prenatal tests arguably reinforce discrimination against and misconceptions about people with disabilities. In these essays, people on both sides of the issue engage in an honest and occasionally painful debate about prenatal testing and selective abortion. The contributors include both people who live with and people who theorize about disabilities, scholars from the social sciences and humanities, medical geneticists, genetic counselors, physicians, and lawyers. Although the essayists don't arrive at a consensus over the disability community's objections to prenatal testing and its consequences, they do offer recommendations for ameliorating some of the problems associated with the practice.
