The Chromosome 22q11.2 Deletion Syndrome


Book Description

The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion syndrome. Leading international contributors cover the background, genetics, testing methods, and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder. Provides a complete description of 22q11.2 deletion syndrome for healthcare professionals, researchers, trainees, and families affected by this common condition Presents diagnostic and treatment strategies to help tackle this complex and often undiagnosed and therefore undertreated condition Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest clinical experience and research in the field Features leading international contributors in numerous sub-specialties, representing the multisystem nature of this condition Includes full color figures, flow charts, tables, and patient images to guide real-time decision-making




Genomic Disorders


Book Description

A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.




Cassidy and Allanson's Management of Genetic Syndromes


Book Description

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.




Genetics for Surgeons


Book Description

Morrison (human genetics, University of Ulster, UK) and Spence (biomedical science, University of Ulster, UK) offer an accessible reference on the genetic disorders that surgeons can expect to meet in general surgical practice. Written in non-technical language, with a glossary, list of abbreviations, and color and b&w photos and medical images, the book supplies an introduction to the nomenclature and technology of molecular biology, and will be a useful starting point for those who wish to extend their knowledge. Annotation :2005 Book News, Inc., Portland, OR (booknews.com).




Mitochondrial Medicine


Book Description




Master protocol for surveillance of pfhrp2/3 deletions and biobanking to support future research


Book Description

Rapid diagnostic test (RDT) kits offer great potential for the immediate diagnosis of malaria infections. Rapid diagnosis allows for prompt treatment, especially in rural settings. Histidine rich protein 2 (HRP2) is an abundant protein expressed only by P. falciparum and is the target for the most commonly used RDTs. While HRP2 RDTs generally have the highest sensitivity of the RDTs for P. falciparum malaria, parasite strains in several countries have been identified that have deletions in the genes encoding HRP2 or the similar HRP3 protein. The purpose of this document is to present an updated standardized protocol that P. falciparum-endemic countries can use to determine the prevalence of parasites with pfhrp2/3 gene deletions causing negative HRP2 RDT results among symptomatic falciparum patients. Two versions are available which allow for a surveillance-only approach or a surveillance combined with biobanking for future research approach.




White Reconstruction


Book Description

A “compelling study” of how the idea of white supremacy persists long after the Civil Rights Act—“as thoughtful as it is fierce” (David Roediger, author of The Sinking Middle Class: A Political History). We are in the fray of another signature moment in the long history of the United States as a project of anti Black and racial–colonial violence. Long before November 2016, white nationalism, white terrorism, and white fascist statecraft proliferated. Thinking across a variety of archival, testimonial, visual, and activist texts—from Freedmen’s Bureau documents and the “Join LAPD” hiring campaign to Barry Goldwater’s hidden tattoo and the Pelican Bay prison strike—Dylan Rodríguez counter-narrates the long “post–civil rights” half-century as a period of White Reconstruction, in which the struggle to reassemble the ascendancy of White Being permeates the political and institutional logics of diversity, inclusion, formal equality, and “multiculturalist white supremacy.” Throughout White Reconstruction, Rodríguez considers how the creative, imaginative, speculative collective labor of abolitionist praxis can displace and potentially destroy the ascendancy of White Being and Civilization in order to create possibilities for insurgent thriving.




Human Chromosomes


Book Description

The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. This new edition continues to cover both basic and up-to-date material on normal and defective chromosomes, yet is particularly strengthened by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects. The mapping and molecular analysis of chromosomes is one of the most exciting and active areas of modern biomedical research, and this book will be invaluable to scientists, students, technicians and physicians with an interest in the function and dysfunction of chromosomes.




Flexible Imputation of Missing Data, Second Edition


Book Description

Missing data pose challenges to real-life data analysis. Simple ad-hoc fixes, like deletion or mean imputation, only work under highly restrictive conditions, which are often not met in practice. Multiple imputation replaces each missing value by multiple plausible values. The variability between these replacements reflects our ignorance of the true (but missing) value. Each of the completed data set is then analyzed by standard methods, and the results are pooled to obtain unbiased estimates with correct confidence intervals. Multiple imputation is a general approach that also inspires novel solutions to old problems by reformulating the task at hand as a missing-data problem. This is the second edition of a popular book on multiple imputation, focused on explaining the application of methods through detailed worked examples using the MICE package as developed by the author. This new edition incorporates the recent developments in this fast-moving field. This class-tested book avoids mathematical and technical details as much as possible: formulas are accompanied by verbal statements that explain the formula in accessible terms. The book sharpens the reader’s intuition on how to think about missing data, and provides all the tools needed to execute a well-grounded quantitative analysis in the presence of missing data.




Wikipedia: The Missing Manual


Book Description

Want to be part of the largest group-writing project in human history? Learn how to contribute to Wikipedia, the user-generated online reference for the 21st century. Considered more popular than eBay, Microsoft.com, and Amazon.com, Wikipedia servers respond to approximately 30,000 requests per second, or about 2.5 billion per day. It's become the first point of reference for people the world over who need a fact fast. If you want to jump on board and add to the content, Wikipedia: The Missing Manual is your first-class ticket. Wikipedia has more than 9 million entries in 250 languages, over 2 million articles in the English language alone. Each one is written and edited by an ever-changing cast of volunteer editors. You can be one of them. With the tips in this book, you'll quickly learn how to get more out of -- and put more into -- this valuable online resource. Wikipedia: The Missing Manual gives you practical advice on creating articles and collaborating with fellow editors, improving existing articles, and working with the Wikipedia community to review new articles, mediate disputes, and maintain the site. Up to the challenge? This one-of-a-kind book includes: Basic editing techniques, including the right and wrong ways to edit Pinpoint advice about which types of articles do and do not belong on Wikipedia Ways to learn from other editors and communicate with them via the site's talk pages Tricks for using templates and timesaving automated editing tools Recommended procedures for fighting spam and vandalism Guidance on adding citations, links, and images to your articles Wikipedia depends on people just like you to help the site grow and maintain the highest quality. With Wikipedia: The Missing Manual, you get all the tools you need to be part of the crew.