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VCFS is also referred to as Velo Cardio Facial Syndrome, CHARGE Syndrome, Shprintzen Syndrome, DiGeorge Sequence, Pierre Robin Sequence, Potter Sequence.
Karp's Cell Biology by Gerald Karp,Janet Iwasa,Wallace Marshall Pdf
Karp's Cell Biology, Global Edition continues to build on its strength at connecting key concepts to the experiments that reveal how we know what we know in the world of Cell Biology. This classic text explores core concepts in considerable depth, often adding experimental detail. It is written in an inviting style to assist students in handling the plethora of details encountered in the Cell Biology course. In this edition, two new co-authors take the helm and help to expand upon the hallmark strengths of the book, improving the student learning experience.
Understanding Genetics by Genetic Alliance,New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services Pdf
The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.
“A fascinating exploration of the mysteries ignited by DNA genealogy testing—from the intensely personal and concrete to the existential and unsolvable.” —Tana French, New York Times–bestselling author You swab your cheek or spit in a vial, then send it away to a lab somewhere. Weeks later you get a report that might tell you where your ancestors came from or if you carry certain genetic risks. Or, the report could reveal a long-buried family secret that upends your entire sense of identity. Soon a lark becomes an obsession, a relentless drive to find answers to questions at the core of your being, like “Who am I?” and “Where did I come from?” Welcome to the age of home genetic testing. In The Lost Family, journalist Libby Copeland investigates what happens when we embark on a vast social experiment with little understanding of the ramifications. She explores the culture of genealogy buffs, the science of DNA, and the business of companies like Ancestry and 23andMe, all while tracing the story of one woman, her unusual results, and a relentless methodical drive for answers that becomes a thoroughly modern genetic detective story. Gripping and masterfully told, The Lost Family is a spectacular book on a big, timely subject. “An urgently necessary, powerful book that addresses one of the most complex social and bioethical issues of our time.” —Dani Shapiro, New York Times–bestselling author “Before you spit in that vial, read this book.” —The New York Times Book Review “Impeccably researched . . . up-to-the-minute science meets the philosophy of identity in a poignant, engaging debut.” —Kirkus Reviews (starred review)
Our Genes, Our Choices: How Genotype and Gene Interactions Affect Behavior, Second Edition explains how the complexity of human behavior, including concepts of free will, derives from a relatively small number of genes, which direct neurodevelopmental sequences. Are people free to make choices, or do genes determine behavior? Paradoxically, the answer to both questions is "yes," because of neurogenetic individuality, a new theory with profound implications. Here, author David Goldman uses judicial, political, medical, and ethical examples to illustrate that this lifelong process is guided by individual genotype, molecular and physiologic principles, as well as by randomness and environmental exposures, a combination of factors that we choose and do not choose. Written in an authoritative yet accessible style, the book includes practical descriptions of the function of DNA, discusses the scientific and historical bases of genethics, and introduces the topics of epigenetics and the predictive power of behavioral genetics. In the decade since the first edition published, knowledge of genetic influences on the neurogenetic underpinnings of behavior has been transformed by genomic technologies. Genome-Wide Association studies, for example, have revealed that hundreds of genes influence vulnerability to psychiatric disease and innate predisposition to risk-taking behaviors. This new edition has been thoroughly revised to focus on free will and its neurogenetic origins. In addition, the use of polygenic scores for behavioral prediction are discussed in-depth, reflecting the GWAS (Genome-Wide Association Study) revolution and combined use of genetic predictors in polygenic scores. Sections on epigenetics are also substantially expanded throughout, better defined, and tied to neuroplasticity and gene-environment interaction. Figures and illustrations have been added or improved throughout, and disease nosology and terminology has been updated. Updates on the previous edition which was the First Prize winner of the 2013 BMA Medical Book Award for Basic and Clinical Sciences Poses and resolves challenges to moral responsibility raised by modern genetics and neuroscience Analyzes the neurogenetic origins of human behavior and free will Features expanded sections on the neurogenetic basis of free will, polygenic risk scores, and epigenetic influence over behavior, as well as improved figures and updated terminology
This indispensable, comprehensive, and accessible reference book to infertility provides people with the tools they need to be their own best advocates as they navigate fertility treatments and highs and lows of their infertility journey. Author Heather Huhman guides readers through every stage of the process—from knowing when to seek medical advice to parenting after infertility, and everything in between. There's the medical nitty gritty: getting a diagnosis (or not); selecting a fertility clinic that's right for you; understanding IUI and IVF and genetic testing; a comprehensive list of medications and their side effects, and much more. There are emotional high and lows: staying hopeful while managing grief and depression, maintaining and strengthening your relationship, and navigating religious and ethical concerns. And then there is the practical and often complicated questions around affording treatments, dealing with your workplace (including the military), and everything you need to know about insurance and fertility treatments. Stronger Than Infertility breaks down complicated clinical information and expert medical advice from top specialists in the field. The book includes first-person stories and hard-won advice from women who have been down this long and often painful road (Huhman included) and offers a clear-eyed look at the emotional and psychological landmines that come with the journey. The result is a book that inspires as much as it educates and is a much-needed source of support and inspiration for readers hungry for understanding and hope.
Author : Eve S. Buzawa,Evan Stark Publisher : Bloomsbury Publishing USA Page : 1001 pages File Size : 40,6 Mb Release : 2009-06-08 Category : Law ISBN : 9780275998479
Violence against Women in Families and Relationships by Eve S. Buzawa,Evan Stark Pdf
This comprehensive overview of domestic violence against women and children in America covers the services meant to combat it, the legal approaches to prosecuting it, the public's attitudes toward it, and the successes and failures of systems meant to address it. The fight to end domestic violence consists of community-based services for battered women, laws and policies to combat the problem, a broad spectrum of frequently-innovative programs to protect or otherwise support abused women and children, a dramatic shift in media portrayals of violence against women, and a growing public critique of unacceptable forms of power and control in relationships. These volumes offer another weapon in that battle. Violence against Women in Families and Relationships takes stock of all of the ways in which legislation, programs and services, and even public attitudes have impacted victims, offenders, and communities over the last few decades. Contributors pay special attention to how race, class, and cultural differences affect the experience of abuse. They explore the efficacy of interventions, and they provide compelling real-life examples to illustrate issues and challenges. Our society has made an enormous investment in stopping abuse in families and relationships, but numerous questions still remain. Many of those questions are answered in these pages, as experts uncover the realities of domestic violence and the toll it takes on families, individuals, communities, and society at large.
Assessment and Diagnosis of Neurodevelopmental Disorders in Young Children by Neil Nicoll Pdf
This essential guide is a research-based practical handbook for assessing global developmental delay and other neurodevelopmental disorders in young children. It explains diagnostic, support, and treatment services available for children and their families, clarifying psychological and medical terminology, and global legislative and societal factors relating to assessment. Designed as a comprehensive compendium for student and practicing psychologists, it offers an introduction to historical perspectives around child development and developmental disorders, and how these have affected our understanding of neurodevelopmental disorders. It explains professional and ethical considerations surrounding the clinical practice of developmental assessments, and focuses on the crucial importance of understanding and supporting the parental experience of assessment and diagnosis. Key topics covered include: definitions and descriptions of genetic and chromosomal disorders and neurodevelopmental disorders; eligibility criteria for support and assistance; the Griffiths Scales, Bayley Scales, and other notable assessments for young children; autism spectrum disorder; the process of assessment and diagnosis, diagnostic tools, and report writing. Including a chapter of illustrative case studies of children with developmental disorders, this book will be essential reading for educational, clinical, and developmental psychologists working with children and their families, as well as post-graduate students training in the field.
Maximise your chance of getting pregnant with this up-to-date and authoritative book that provides a clear and holistic approach to fertility. Areas including: - Understanding your body and maximising your chances of conceiving naturally as well as through complex treatments such as IVF, IUI and egg freezing - A pre-conception plan with sections on lifestyle, nutrition and the role of stress - The common (and uncommon) causes of fertility problems in both men and women - Options for single people and same-sex couples - Up-to-date information on ethics, funding and the law both nationally and internationally - Insightful testimonials from patients dealing with fertility problems and the emotional impact of treatment.Written by Professor Mary Wingfield, one of Ireland's foremost fertility experts who has helped hundreds of people to conceive over the last thirty years. All royalties from the sale of this book will be donated to the Merrion Fertility Foundation, which funds fertility treatment.
Methods in Biomedical Informatics by Indra Neil Sarkar Pdf
Beginning with a survey of fundamental concepts associated with data integration, knowledge representation, and hypothesis generation from heterogeneous data sets, Methods in Biomedical Informatics provides a practical survey of methodologies used in biological, clinical, and public health contexts. These concepts provide the foundation for more advanced topics like information retrieval, natural language processing, Bayesian modeling, and learning classifier systems. The survey of topics then concludes with an exposition of essential methods associated with engineering, personalized medicine, and linking of genomic and clinical data. Within an overall context of the scientific method, Methods in Biomedical Informatics provides a practical coverage of topics that is specifically designed for: (1) domain experts seeking an understanding of biomedical informatics approaches for addressing specific methodological needs; or (2) biomedical informaticians seeking an approachable overview of methodologies that can be used in scenarios germane to biomedical research. Contributors represent leading biomedical informatics experts: individuals who have demonstrated effective use of biomedical informatics methodologies in the real-world, high-quality biomedical applications Material is presented as a balance between foundational coverage of core topics in biomedical informatics with practical "in-the-trenches" scenarios. Contains appendices that function as primers on: (1) Unix; (2) Ruby; (3) Databases; and (4) Web Services.
Twice, Cephas has travelled through time … but once again, his time is running out… The Final Holy War rages between Four and the Cult Hunters, and neither side is taking prisoners. As The Corps begins to spread its deadly new biotoxin around the globe, Zip orders a full-out assault in an attempt to steal enough vaccine to save her followers. The bloodbath only serves to pit the remaining Christians against each other, with even Bethany House divided. His small flock now scattered, Cephas and Martha race to solve the greatest puzzle of his life: one in which the missing pieces are scattered throughout his past, present … and future. With hope fading, even Cephas can’t recognize which of the dark days ahead represents the “Moment of Darkness” that Christ foretold he would someday face. As the pieces come together, and the picture becomes clear, Cephas is forced to face his greatest fear alone. In this puzzle, the final piece … is him.
Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition by Donna Cutler-Landsman Pdf
The 22q11.2 deletion syndrome, also known as velo-cardio-facial syndrome and DiGeorge syndrome, is relatively new. The genetic test to determine if a child has it has only been available since 1994. Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition, effectively blends the thoughtful research that has transpired within the past 25 years with practical and current educational strategies to better meet the needs of children with the 22q11.2 deletion syndrome and other developmental disabilities. With its expanded content, as well as new contributions from some of the most highly regarded experts in the field, Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition is an essential resource for teachers, parents, physicians, and therapists of children with this complicated learning profile. To first address the scientific information that is needed to understand the syndrome and the implications of current research, expert contributors present the results of current studies involving brain abnormalities, language/learning profiles, medical needs, and psychiatric and behavioral difficulties. These valuable chapters are written in a reader-friendly manner to help parents, professionals, and teachers gain useful and necessary comprehension of the unique characteristics of the 22q11.2DS population. The second part of the book is a practical guide to educating a child with 22q11.2DS from birth through adulthood. Divided into the various stages of development from preschool to adulthood, it includes information regarding the necessary tests special education teams should run, typical difficulties associated with learning, changes that occur with ability as the child matures, and behavioral problems in the school setting. New to the Third Edition: * Addition of recent research studies since 2012 * Current research and treatment options for mental health issues * Expanded and enhanced coverage of bullying and the social/emotional aspects of the syndrome * Discussion on the possibility of cognitive decline and how to address this at school * More information on Common Core State Standards and standardized testing for children with disabilities, including a section on understanding test scores * Homeschooling and other placement alternatives * Executive functioning deficits, their impact in the classroom, and approaches to use * Dealing with problem behaviors such as withdrawal and school refusal * Cognitive remediation and new treatment strategies * New math and reading remediation techniques * New options for programming and post-secondary placements
An examination of the cognitive, medical and psychological aspects of educating a child with Prader-Willi Syndrome. Practical advice is given for every part of the schooling process, from classroom management to helping the child with difficult lessons such as maths. The section on further education discusses the ethical issues concerned with learning skills for independent living and the potential for future employment.