Download or read book Chromosome Abnormalities and Genetic Counseling written by R.J. MKinlay Gardner and published by OUP USA. This book was released on 2012 with total page 650 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.
Download or read book Cytogenetic Abnormalities written by Susan Mahler Zneimer and published by John Wiley & Sons. This book was released on 2014-08-21 with total page 672 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytogenetics is the study of the structure and function of chromosomes in relation to phenotypic expression.Chromosomal abnormalities underlie the development of a wide variety of diseases and disorders ranging from Down syndrome to cancer, and are of widespread interest in both basic and clinical research. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting is a practical guide that describes cytogenetic abnormalities, their clinical implications and how best to report and communicate laboratory findings in research and clinical settings. The text first examines chromosomal, FISH, and microarray-based analyses in constitutional disorders. Using these same methodologies, the book's focus shifts to acquired abnormalities in cancers. Both sections provide illustrative examples of cytogenetic abnormalities and how to communicate these findings in standardized laboratory reports. Providing both a wealth of cytogenetic information, as well as practical guidance on how best to communicate findings to fellow research and medical professionals, Cytogenetic Abnormalities will be an essential resource for cytogeneticists, laboratory personnel, clinicians, research scientists, and students in the field. A guide to interpreting and reporting cytogenetic laboratory results involved in constitutional disorders and cancers Guides the reader on implementing the International System for Human Cytogenetic Nomenclature in written reports Provides information to allow scientists and medical professionals to fully understand and communicate cytogenetic abnormalities Describes a wide array of cytogenetic abnormalities observed in the laboratory Divided into user-friendly sections devoted to methodologies and implications of specific diseases
Download or read book Textbook of Fetal Abnormalities written by Peter Twining and published by Elsevier Health Sciences. This book was released on 2007-01-01 with total page 627 pages. Available in PDF, EPUB and Kindle. Book excerpt: Updated to reflect the recent advances in this fast-changing field, this highly illustrated text examines the latest imaging modalities for prenatal diagnosis of fetal abnormalities. A team of leading authorities provides practical, step-by-step guidance on everything from detection and interpretation...to successful management approaches. Algorithms and management strategies throughout not only describe the features of abnormalities, but also show you how to arrive at a correct diagnosis through the use of color Doppler, 3-D ultrasound, and fetal MR. This 2nd Edition offers the essential practice-proven guidance you need to arrive at confident diagnoses in critical situations. It's a resource you'll turn to time and again! Includes more than 700 illustrations that clearly depict a full range of conditions. Focuses on image interpretation and, wherever possible, correlation of radiographic features with pathologic findings to provide the most accurate and reliable diagnosis possible. Uses a reader-friendly format to facilitate quick access to specific information. Includes new chapters reflecting major advances in magnetic resonance imaging and 3-D ultrasound. Presents an increased use of lists of differential diagnosis.
Download or read book Gardner and Sutherland s Chromosome Abnormalities and Genetic Counseling written by R.J. McKinlay Gardner and published by Oxford University Press. This book was released on 2018-02-06 with total page 634 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
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.
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
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.
Download or read book Cytogenetic Abnormalities written by Susan Mahler Zneimer and published by John Wiley & Sons. This book was released on 2014-09-22 with total page 672 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytogenetics is the study of the structure and function of chromosomes in relation to phenotypic expression.Chromosomal abnormalities underlie the development of a wide variety of diseases and disorders ranging from Down syndrome to cancer, and are of widespread interest in both basic and clinical research. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting is a practical guide that describes cytogenetic abnormalities, their clinical implications and how best to report and communicate laboratory findings in research and clinical settings. The text first examines chromosomal, FISH, and microarray-based analyses in constitutional disorders. Using these same methodologies, the book's focus shifts to acquired abnormalities in cancers. Both sections provide illustrative examples of cytogenetic abnormalities and how to communicate these findings in standardized laboratory reports. Providing both a wealth of cytogenetic information, as well as practical guidance on how best to communicate findings to fellow research and medical professionals, Cytogenetic Abnormalities will be an essential resource for cytogeneticists, laboratory personnel, clinicians, research scientists, and students in the field. A guide to interpreting and reporting cytogenetic laboratory results involved in constitutional disorders and cancers Guides the reader on implementing the International System for Human Cytogenetic Nomenclature in written reports Provides information to allow scientists and medical professionals to fully understand and communicate cytogenetic abnormalities Describes a wide array of cytogenetic abnormalities observed in the laboratory Divided into user-friendly sections devoted to methodologies and implications of specific diseases
Download or read book Chromosomal Abnormalities written by Tulay Askin Celik and published by BoD – Books on Demand. This book was released on 2020-11-11 with total page 168 pages. Available in PDF, EPUB and Kindle. Book excerpt: Chromosomes are vital components of genetic material, and, as such, distruption or changes to the structure of chromosomes can result in different health problems and deficits. This book explains chromosomal abnomalities and their effects on living organisms, including humans and plants. Classical and molecular cytogenetics techniques have a considerable number of potential applications, especially in clinical trials and biomedical diagnosis, making them a strong and insightful complement to other molecular and genomic approaches. Chapters cover topics including Down syndrome, fetal ultrasounds, acute myeloid leukemia, and Phelan-McDermid syndrome, among others.
Download or read book Antenatal Diagnosis of Fetal Abnormalities written by James O. Drife and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: In few areas of medicine is progress more spectacular than in the field of prenatal diagnosis. New clinical techniques such as chorion villus sampling, detailed ultrasound scanning and cordocentesis are being evaluated by obstetricians, and refinement of biochemical testing is widening the scope of maternal serum screening. In the laboratory, dramatic advances in molecular biology are occurring: families at risk of genetic disease can be investigated with gene probes, and preimplantation diagnosis of the embryo is now becom ing a reality. These technical advances have important ethical and practical implications, among which will be a further increase in public expectations of the standards required of antenatal services. Clini cians will need a high degree of skill to inform healthy women about the options for screening normal pregnancies, and to counsel high-risk women about the benefits and limitations of prenatal diagnosis. Obstetricians, scientists and health service managers will face the difficult task of deciding how prenatal diagnosis can be made available to women in a caring and cost-effective way. Recognising the rapid progress in this field, the Royal College of Obstetricians and Gynaecologists made prenatal diagnosis the subject of its 23rd Study Group. An international panel of leading researchers, whose expertise ranged from molecular biology to philosophy, was invited to participate in a three day workshop, with time for in-depth discussion as well as the presentation of papers.
Download or read book Down Syndrome and Other Chromosome Abnormalities written by Subrata Dey and published by BoD – Books on Demand. This book was released on 2022-03-23 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a concise yet comprehensive source of current information on Down syndrome and other chromosomal abnormalities. Research workers, scientists, medical graduates and paediatricians will find it an excellent source for reference and review. Key features of this book are as follows: • Mechanisms of aneuploidy. • Effect of sociodemographic factors on different congenital disorders. • Haematological malignancies and congenital heart disease in Down syndrome. • Prenatal screening, management and counselling to detect Down syndrome and other chromosomal abnormalities. While aimed primarily at research workers on Down syndrome and different types of chromosomal disorders, we hope that the appeal of this book will extend beyond the narrow confines of academic interest and be of interest to a wider audience, especially the parents and relatives of children suffering from Down syndrome and other chromosomal abnormality syndromes.
Download or read book Podrid s Real World ECGs Volume 3 Conduction Abnormalities written by Philip Podrid, MD and published by Cardiotext Publishing. This book was released on 2013-11-01 with total page 497 pages. Available in PDF, EPUB and Kindle. Book excerpt: Podrid's Real-World ECGs combines traditional case-based workbooks with a versatile Web-based program to offer students, health care professionals, and physicians an indispensable resource for developing and honing the technical skills and systematic approach needed to interpret ECGs with confidence. ECGs from real patient cases offer a complete and in-depth learning experience by focusing on fundamental electrophysiologic properties and clinical concepts as well as detailed discussion of important diagnostic findings and relevant management decisions. Six comprehensive volumes encompass more than 600 individual case studies—plus an online repository of hundreds more interactive case studies (www.realworldECGs.com)—that include feedback and discussion about the important waveforms and clinical decision-making involved. From an introductory volume that outlines the approaches and tools utilized in the analysis of all ECGs to subsequent volumes covering particular disease entities for which the ECG is useful, readers will take away the in-depth knowledge needed to successfully interpret the spectrum of routine to challenging ECGs they will encounter in their own clinical practice. Volume 3, Conduction Abnormalities, explores the essentials of AV nodal and intraventricular conduction abnormalities seen in everyday clinical practice: AV conduction abnormalities, including first-, second-, and third-degree AV block and enhanced AV conduction Intraventricular conduction abnormalities, including intraventricular conduction delay, fascicular block, and bundle branch blocks There are 101 cases included in Volume 3.
Download or read book Congenital Abnormalities and Preterm Birth Related to Maternal Illnesses During Pregnancy written by Nándor Ács and published by Springer Science & Business Media. This book was released on 2010-07-05 with total page 539 pages. Available in PDF, EPUB and Kindle. Book excerpt: The major objective of our studies in the last decade was a systematic analysis of maternal diseases during pregnancy to reveal their possible adverse effects on birth outcomes. The two most important factors of infant mortality were parti- larly analyzed: structural birth defects, known as congenital abnormalities (CAs) and preterm birth (PB). In general the objectives of scienti c studies might be either to test a new hypothesis or to con rm or confront previously published results. However, less frequently the authors/scientists have personal motivations determined by their professional activities. The authors of this book are practicing physicians and genetic epidemiologist who are mainly interested in the following three practical questions: 1. The possible adverse effects of pharmaceutical products. The possible t- atogenic potential of about 170 drugs has been evaluated very thoroughly using the data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities (HCCSCA) in the last 50 years. These drugs were used to treat maternal diseases and the ndings of our population-based case-control studies will be cited in this book and are shown in the Appendix at the end of the book. However, our long experiences showed two problems in the drug teratology. In general the evaluation of clinical doses of these drugs is a particularly dif- cult challenge due to the modi cation effects of confounders. This problem motivated one of the authors to establish a new model of disaster epidemiology.
Download or read book Jaw Abnormalities Advances in Research and Treatment 2012 Edition written by and published by ScholarlyEditions. This book was released on 2012-12-26 with total page 51 pages. Available in PDF, EPUB and Kindle. Book excerpt: Jaw Abnormalities—Advances in Research and Treatment: 2012 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Jaw Abnormalities in a concise format. The editors have built Jaw Abnormalities—Advances in Research and Treatment: 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Jaw Abnormalities in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Jaw Abnormalities—Advances in Research and Treatment: 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Download or read book Hormonal and Metabolic Abnormalities in Heart Failure Patients Pathophysiological Insights and Clinical Relevance An Issue of Heart Failure Clinics Ebook written by Pasquale Perrone Filardi and published by Elsevier Health Sciences. This book was released on 2019-05-11 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: This issue of Heart Failure Clinics, Guest Edited by Dr. Pasquale Perrone Filardi, will focus on Hormonal and Metabolic Abnormalities in Heart Failure Patients. This issue is one of four selected for the year by the series Consulting Editor, Eduardo Bossone. Topics include, but are not limited to, Glucose metabolism abnormalities in heart failure patients, Diabetic cardiomyopathy, New oral antidiabetics in chronic heart failure, Metabolic syndrome and heart failure, Eritropoietin anemia and iron vs. exercise capacity in chronic heart failure, Prognostic value of hormonal abnormalities in heart failure patients, Hormonal Replacement Therapy in Heart Failure, The management of thyroid abnormalities in chronic heart failure, Acromegaly and heart failure, Beta-receptor signaling and heart failure, and Evaluation of cardiac metabolism by magnetic resonance spectroscopy in heart failure.
Download or read book Congenital Abnormalities of the Skull Vertebral Column and Central Nervous System An Issue of Veterinary Clinics of North America Small Animal Practice written by Curtis Dewey and published by Elsevier Health Sciences. This book was released on 2016-02-10 with total page 177 pages. Available in PDF, EPUB and Kindle. Book excerpt: This issue will focus on Congenital Deformities of the Brain and Spine. Articles include: Embryonic development of the central nervous system, Chiari-like malformation, Atlanto-occipital overlap (AOO) and other craniocervical junction anomalies, Congenital Hydrocephalus Intracranial arachnoid cysts and other cystic abnormalities of the brain, Atlantoaxial instability, Cystic abnormalities of the spinal cord, Hemivertebra and related malformations, and more!
Download or read book Developmental Abnormalities of the Eye written by Ida Mann and published by CUP Archive. This book was released on 1957 with total page 556 pages. Available in PDF, EPUB and Kindle. Book excerpt:
