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This book offers an essential guide for postgraduates, obstetricians and gynaecologists (including teaching faculty), helping them develop workflows for the early detection and assessment of high-risk pregnancies & pregnancy with IUGR using colour Doppler applications and transfontenellar cranial sonography in premature new-borns during routine ultrasonography. This book familiarizes practicing radiologists and Ob-Gyn specialists with this aspect of sonography, so as to improve perinatal outcomes.
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.
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.
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.
A fully updated and illustrated handbook providing comprehensive coverage of all curriculum areas covered by the MRCOG Part 1 examination.
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.
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
Berman's Pediatric Decision Making uses an algorithmic, structured approach to lead you to the right diagnosis and treatment every time. Drs. Lalit Baja, Simon Hambidge, Ann-Christine Nyquist, and Gwendolyn Kerby use evidence-based research and flow charts for each presenting complaint or specific disorder to provide quick access to the information you need for effective decision making. With updated drug tables and revised algorithms, this streamlined new edition makes it even easier for you to diagnose and manage common clinical problems from infancy through adolescence. - Rapidly access guidance on diagnosis and management from algorithms for each clinical disorder. - Treat the full range of diseases and disorders with comprehensive coverage of diagnosis, assessment of severity, and clinical management. Choose the best treatment for each case thanks to indications for surgical interventions as well as expensive diagnostic procedures - Access the fully searchable contents online at www.expertconsult.com. - Stay current on recent developments and make effective decisions for movement disorders, physical abuse in children, sexual abuse in children, eating disorders, ADHD, and other hot topics. - Find answers quickly and easily with a new table of contents organized into two sections—Presenting Complaints and Specific Disorders—that reduces the need to flip between chapters. - Tap into the diverse perspectives of expert authors from all over the country. - Get only the information you need in the streamlined new edition with shorter, more user-friendly flow diagrams and fewer specialized chapters.