Download or read book Techniques d exploration chromosomique en pr natal written by Stéphanie Brun and published by . This book was released on 2019 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: ObjectifLe diagnostic prénatal (DPN) a pour but de détecter des pathologies foetales in utero. L'objectif de ce travail était de mettre au point et d'appliquer les techniques d'exploration chromosomique en prénatal. Nous avons, tout d'abord, validé et évalué une plateforme de séquençage basée sur la technologie des semi-conducteurs, Ion Proton®, pour le dépistage prénatal non-invasif (DPNI) des principales aneuploïdies en routine clinique, puis évalué l'intérêt de l'Analyse Chromosomique sur Puces à ADN (ACPA) dans le diagnostic prénatal des retards de croissance intra-utérin (RCIU) foetaux. Matériel et Méthodes Nous avons inclus prospectivement 2505 patientes enceintes analysées par huit laboratoires hospitalo-universitaires de génétique : 695 grossesses à haut risque pour la trisomie 21 (risque ≥1/250 ou avec anomalie échographique) dans une étude de validation de la technique du test ADN libre circulant (ADNlc), et 1810 grossesses à risque, sans anomalie échographique, en routine clinique. Les issues de grossesses étaient toutes disponibles dans l'étude de validation et pour 521 grossesses dans l'étude en routine clinique. L'ADNlc extrait d'échantillons plasmatiques était séquencé, puis les données étaient analysées à l'aide du logiciel WISECONDOR. Les résultats des tests ADNlc étaient comparés aux caryotypes foetaux ou 7 aux données à la naissance. Nous avons aussi évalué le taux d'échec et comparé trois méthodes d'évaluation de la fraction foetale (FF) (RASSF1A, DEFRAG et SANEFALCON). Nous avons rétrospectivement inclus tous les foetus référés pour un prélèvement invasif pour RCIU et étudié les résultats de technique d'hybridation in situ en fluorescence (FISH), caryotypes et ACPA. Résultats Les résultats des deux cohortes de l'étude sur l'ADNlc étaient cohérents et les âges gestationnels n'étaient pas significativement différents ; les données ont été combinées afin d'étoffer la cohorte à analyser. Respectivement, la sensibilité et la spécificité étaient de : 98.3% (95% IC, 93.5-99.7%) et 99.9% (95% IC, 99.4-100%) pour la trisomie 21; 96.7% (95% IC, 80.9-99.8%) et 100% (95% IC, 99.6-100%) pour la trisomie 18 ; et 94.1% (95% IC, 69.2-99.7%) et 100% (95% IC, 99.6-100%) pour la trisomie 13. Le taux de non rendus était de 1.2% initialement puis après réanalyse de 0.6%. L'estimation de la FF avec les méthodes RASSF1A et DEFRAG étaient comparables, toutes deux compatibles avec une utilisation en routine clinique. Parmi les 162 foetus RCIU (78 associés et 84 isolés) inclus dans l'étude ACPA, 15 avaient une FISH pathologique : 10 RCIU associés et cinq RCIU isolés. Parmi 143 foetus étudiés par ACPA, 10 (7%) présentaient un variant du nombre de copies (CNV), tous étaient des RCIUs associés (10/65 soit 15.4%; 95 IC: 8.4%-26.2%), versus 0/78 dans le groupe RCIUs isolés (95% IC: 0%-5.6%). Six foetus (4.2%) ont présenté des variants de signification inconnue (VSI) (trois RCIU associés et trois RCIU isolés). Conclusion : Notre étude évaluant le test ADNlc utilisant la technologie des semi-conducteurs est la première étude clinique à rapporter les issues de grossesses dans une population aussi large. La plateforme est performante pour le DPNI des principales aneuploïdies. Notre protocole robuste est facilement applicable en routine clinique. Notre étude souligne une augmentation de rendement diagnostique de l'ACPA de 6.1% (4/65) par rapport au caryotype pour le DPN des foetus présentant un RCIU associé. Aucun CNV pathogène n'a été mis en évidence dans le groupe RCIU isolé. L'ADNlc pourrait-il supplanter l'ACPA dans cette population de RCIU isolé ? Le développement du test ADNlc a permis de limiter le nombre de prélèvements invasifs et donc leurs complications [...].
Download or read book Disease Control Priorities Third Edition Volume 6 written by King K. Holmes and published by World Bank Publications. This book was released on 2017-11-06 with total page 1027 pages. Available in PDF, EPUB and Kindle. Book excerpt: Infectious diseases are the leading cause of death globally, particularly among children and young adults. The spread of new pathogens and the threat of antimicrobial resistance pose particular challenges in combating these diseases. Major Infectious Diseases identifies feasible, cost-effective packages of interventions and strategies across delivery platforms to prevent and treat HIV/AIDS, other sexually transmitted infections, tuberculosis, malaria, adult febrile illness, viral hepatitis, and neglected tropical diseases. The volume emphasizes the need to effectively address emerging antimicrobial resistance, strengthen health systems, and increase access to care. The attainable goals are to reduce incidence, develop innovative approaches, and optimize existing tools in resource-constrained settings.
Download or read book Cumulated Index Medicus written by and published by . This book was released on 1965 with total page 1848 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Download or read book Gene Drives on the Horizon written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2016-08-28 with total page 231 pages. Available in PDF, EPUB and Kindle. Book excerpt: Research on gene drive systems is rapidly advancing. Many proposed applications of gene drive research aim to solve environmental and public health challenges, including the reduction of poverty and the burden of vector-borne diseases, such as malaria and dengue, which disproportionately impact low and middle income countries. However, due to their intrinsic qualities of rapid spread and irreversibility, gene drive systems raise many questions with respect to their safety relative to public and environmental health. Because gene drive systems are designed to alter the environments we share in ways that will be hard to anticipate and impossible to completely roll back, questions about the ethics surrounding use of this research are complex and will require very careful exploration. Gene Drives on the Horizon outlines the state of knowledge relative to the science, ethics, public engagement, and risk assessment as they pertain to research directions of gene drive systems and governance of the research process. This report offers principles for responsible practices of gene drive research and related applications for use by investigators, their institutions, the research funders, and regulators.
Download or read book Fasten Your Seatbelt written by Brian Skotko and published by Special Needs Collection. This book was released on 2009 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even the closest brothers and sisters don't always get along or understand each other. Add a disability like Down syndrome to the mix, and that sibling relationship gets even more complicated, especially for teenagers. Fasten Your Seatbelt is the first book written exclusively for teens with a brother or sister with Down syndrome. In an easy-to-read, question & answer format, it tackles a broad range of their most common issues and concerns. Nearly 100 questions--all posed by teen siblings--are grouped into the following categories: Facts and stats about Down syndrome How people with Down syndrome learn Handling parent and family conflicts Dealing with your sibling's frustrating behaviors Managing uncomfortable situations Sorting out your feelings Becoming an advocate What the future holds for you and your sibling Finding local and national resources Thoughtful, knowledgeable answers are provided by Brian Skotko, the brother of a young woman with Down syndrome, and Sue Levine, a social worker focused on sibling issues for the past 30 years. Fasten Your Seatbelt gives teens the green light to explore their own feelings and questions about their sibling with Down syndrome and how their relationship may change in the future. Wondering whats on their minds? Here are a few sample questions from the book: Why does my brother always have temper tantrums? How can one extra chromosome make someone so different? Can my sister with Down syndrome marry someday? Will my brother be able to live on his own as an adult?
Download or read book J Genet Hum written by and published by . This book was released on 1988 with total page 536 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Childhood Acute Lymphoblastic Leukemia written by Ajay Vora and published by Springer. This book was released on 2017-04-21 with total page 345 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive and up-to-date review of all aspects of childhood Acute Lymphoblastic Leukemia, from basic biology to supportive care. It offers new insights into the genetic pre-disposition to the condition and discusses how response to early therapy and its basic biology are utilized to develop new prognostic stratification systems and target therapy. Readers will learn about current treatment and outcomes, such as immunotherapy and targeted therapy approaches. Supportive care and management of the condition in resource poor countries are also discussed in detail. This is an indispensable guide for research and laboratory scientists, pediatric hematologists as well as specialist nurses involved in the care of childhood leukemia.
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.
Download or read book The Conservation Biology of Tortoises written by IUCN/SSC Tortoise and Freshwater Turtle Specialist Group and published by IUCN. This book was released on 1989 with total page 210 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Official Records written by and published by . This book was released on 1969 with total page 1520 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Mitochondrial Replacement Techniques written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2016-04-17 with total page 201 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mitochondrial replacement techniques (MRTs) are designed to prevent the transmission of mitochondrial DNA (mtDNA) diseases from mother to child. While MRTs, if effective, could satisfy a desire of women seeking to have a genetically related child without the risk of passing on mtDNA disease, the technique raises significant ethical and social issues. It would create offspring who have genetic material from two women, something never sanctioned in humans, and would create mitochondrial changes that could be heritable (in female offspring), and therefore passed on in perpetuity. The manipulation would be performed on eggs or embryos, would affect every cell of the resulting individual, and once carried out this genetic manipulation is not reversible. Mitochondrial Replacement Techniques considers the implications of manipulating mitochondrial content both in children born to women as a result of participating in these studies and in descendants of any female offspring. This study examines the ethical and social issues related to MRTs, outlines principles that would provide a framework and foundation for oversight of MRTs, and develops recommendations to inform the Food and Drug Administration's consideration of investigational new drug applications.
Download or read book Neurobiology of Mental Illness written by Dennis S. Charney and published by Oxford University Press, USA. This book was released on 2013-07-04 with total page 1259 pages. Available in PDF, EPUB and Kindle. Book excerpt: Our understanding of the neurobiological basis of psychiatric disease has accelerated in the past five years. The fourth edition of Neurobiology of Mental Illness has been completely revamped given these advances and discoveries on the neurobiologic foundations of psychiatry. Like its predecessors the book begins with an overview of the basic science. The emerging technologies in Section 2 have been extensively redone to match the progress in the field including new chapters on the applications of stem cells, optogenetics, and image guided stimulation to our understanding and treatment of psychiatric disorders. Sections' 3 through 8 pertain to the major psychiatric syndromes-the psychoses, mood disorders, anxiety disorders, substance use disorders, dementias, and disorders of childhood-onset. Each of these sections includes our knowledge of their etiology, pathophysiology, and treatment. The final section discusses special topic areas including the neurobiology of sleep, resilience, social attachment, aggression, personality disorders and eating disorders. In all, there are 32 new chapters in this volume including unique insights on DSM-5, the Research Domain Criteria (RDoC) from NIMH, and a perspective on the continuing challenges of diagnosis given what we know of the brain and the mechanisms pertaining to mental illness. This book provides information from numerous levels of analysis including molecular biology and genetics, cellular physiology, neuroanatomy, neuropharmacology, epidemiology, and behavior. In doing so it translates information from the basic laboratory to the clinical laboratory and finally to clinical treatment. No other book distills the basic science and underpinnings of mental disorders and explains the clinical significance to the scope and breadth of this classic text. The result is an excellent and cutting-edge resource for psychiatric residents, psychiatric researchers and doctoral students in neurochemistry and the neurosciences.
Download or read book Iron Chelation Therapy written by Chaim Hershko and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 275 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within the last few years, iron research has yielded exciting new insights into the under standing of normal iron homeostasis. However, normal iron physiology offers little protec tion from the toxic effects of pathological iron accumulation, because nature did not equip us with effective mechanisms of iron excretion. Excess iron may be effectively removed by phlebotomy in hereditary hemochromatosis, but this method cannot be applied to chronic anemias associated with iron overload. In these diseases, iron chelating therapy is the only method available for preventing early death caused mainly by myocardial and hepatic iron toxicity. Iron chelating therapy has changed the quality of life and life expectancy of thalassemic patients. However, the high cost and rigorous requirements of deferoxamine therapy, and the significant toxicity of deferiprone underline the need for the continued development of new and improved orally effective iron chelators. Such development, and the evolution of improved strategies of iron chelating therapy require better understanding of the pathophysiology of iron toxicity and the mechanism of action of iron chelating drugs. The timeliness of the present volume is underlined by several significant develop ments in recent years. New insights have been gained into the molecular basis of aberrant iron handling in hereditary disorders and the pathophysiology of iron overload (Chapters 1-5).
Download or read book The Placenta written by Berthold Huppertz and published by Springer Nature. This book was released on 2023-02-27 with total page 387 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a comprehensive work that spans the gap between basic knowledge and clinical significance of the placenta. Starting from normal development, it deals with the histopathology of the placenta, leads the reader on to functional disorders and insufficiencies and explains their effects on mother and child. Based on this, the authors convey in a practical and user-friendly manner everything worth knowing about diagnostics and therapy and provide valuable information for the optimal care of the pregnant patient.
Download or read book Proceedings of the National Academy of Sciences of the United States of America written by National Academy of Sciences (U.S.) and published by . This book was released on 1980 with total page 716 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Clinical Algorithms in General Surgery written by Salvatore Docimo Jr. and published by Springer. This book was released on 2019-02-04 with total page 786 pages. Available in PDF, EPUB and Kindle. Book excerpt: As the field of general surgery continues to expand, the diagnostic and therapeutic pathways are becoming more complex. The diagnostic modalities available to the clinician can be both very helpful but also overwhelming considering the findings can often determine the scope of treatment for a patient. This text will take the major pathologies of the systems commonly studied in general surgery and present them in a unique format based upon algorithms. The algorithms will begin with the clinical presentation of the patient, work its way through the various diagnostic modalities available to the surgeon, and finally allow the physician to make a decision regarding treatment options based upon various patterns in the algorithms. This text will become a very useful resources for surgeons as it allows complex clinical pathways to be conveniently organized in logical algorithms. It will become a concise yet comprehensive manual to assist in clinical decision making. All algorithms will be reviewed by experts in their field and include the most up-to-date clinical and evidence-based information. Clinical Algorithms in General Surgery provides a useful resource for surgeons in clinical practice as well as surgical residents, and surgical attendings who are preparing for board examinations. See sample algorithm in Attachments.
