Focus on Medical Genetics and Down's Syndrome Research

Focus on Medical Genetics and Down's Syndrome Research
Author: Richard A. Firthel
Publisher: Nova Publishers
Total Pages: 212
Release: 2007
Genre: Medical
ISBN: 9781600213472

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Medical Genetics is the application of genetics to medicine. Medical genetics is broad and varied and encompasses many different individual fields, including clinical genetics, biochemical genetics, cytogenetics, molecular genetics, the genetics of common diseases (such as neural tube defects), and genetic counselling. Each of the individual fields within medical genetics is a hybrid. Clinical genetics is a hybrid of clinical medicine with genetics. Biochemical genetics is a hybrid of biochemistry, mainly the biochemistry of amino acids and proteins, with genetics. Molecular genetics is a hybrid of the biochemistry of DNA and RNA with genetics. Cytogenetics is a hybrid of cytology and genetics; it involves the study of chromosomes under the microscope. And genetic counselling is a hybrid of genetics with non-directional counselling. This book presents leading-edge research on medical genetics as well as on Down's syndrome.

Focus on Down's Syndrome Research

Focus on Down's Syndrome Research
Author: Jeffrey A. Malard
Publisher:
Total Pages: 0
Release: 2004
Genre: Down syndrome
ISBN: 9781590338933

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Down's Syndrome is a chromosome abnormality, usually due to an extra copy of the 21st chromosome, although not invariably, resulting in mental retardation and other abnormalities. It is the most common single cause of birth defects with an incidence of 1 in 660 births. Children with Down syndrome have a widely recognised characteristic appearance. The head may be smaller than normal and abnormally shaped. Prominent facial features include a flattened nose, protruding tongue, and upward slanting eyes. Retardation of normal growth and development is typical and most affected children never reach average adult height. Congenital heart defects are frequently present in these infants as are other medical difficulties. Breakthroughs in genetic engineering offer new hope for this field. This book offers state-of- the art reports on efforts to better understand and push forward this dynamic field of medical research.

Advances in Research on Down Syndrome

Advances in Research on Down Syndrome
Author: Subrata Dey
Publisher: BoD – Books on Demand
Total Pages: 150
Release: 2018-01-31
Genre: Medical
ISBN: 953513762X

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This book provides a concise yet comprehensive source of current information on Down syndrome. It focuses on exciting areas of research on chromosome editing, neurogenomics and diseases associated with Down syndrome. Research workers, scientists, medical graduates and physicians will find this book as an excellent source for consultation and references. Key features of this book are chromosome engineering in Down syndrome, mental retardation and cognitive disability, prenatal diagnosis and diseases associated with Down syndrome. Although aimed primarily for research workers on Down syndrome, we hope that the appeal of this book will extend beyond the narrow confines of academic interest and be exciting to wider audience, especially parents, relatives and health care providers who work with infants and children with Down syndrome.

Fasten Your Seatbelt

Fasten Your Seatbelt
Author: Brian Skotko
Publisher: Special Needs Collection
Total Pages: 0
Release: 2009
Genre: Brothers and sisters
ISBN: 9781890627867

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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?

Down Syndrome

Down Syndrome
Author: Ira T. Lott
Publisher: Wiley
Total Pages: 212
Release: 1992-05-04
Genre: Science
ISBN: 9780471561842

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Focuses entirely on health care of people with Down Syndrome throughout their life span, from birth to old age. With the remarkable strides that have been made in research and medicine in the past decade, people with Down Syndrome are living longer and healthier lives and are actively participating in all aspects of community life. Health care is a critical factor in this process. The first section explores the genetic basis for Down Syndrome as well as discusses speech and language development in children; the second section highlights clinical advances in treatment.

Genetics and Etiology of Down Syndrome

Genetics and Etiology of Down Syndrome
Author: Subrata Dey
Publisher: BoD – Books on Demand
Total Pages: 344
Release: 2011-08-29
Genre: Medical
ISBN: 9533076313

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This book provides a concise yet comprehensive source of current information on Down syndrome. Research workers, scientists, medical graduates and paediatricians will find it an excellent source for reference and review. This book has been divided into four sections, beginning with the Genetics and Etiology and ending with Prenatal Diagnosis and Screening. Inside, you will find state-of-the-art information on: 1. Genetics and Etiology 2. Down syndrome Model 3. Neurologic, Urologic, Dental

Genetics and Society

Genetics and Society
Author: Anne Kerr
Publisher: Psychology Press
Total Pages: 216
Release: 2004
Genre: Health & Fitness
ISBN: 9780415300810

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Genetic science has advanced rapidly. This work looks at the history of this science and the wide-ranging impact it has had on contemporary society.

Advances in Down Syndrome Research

Advances in Down Syndrome Research
Author: Gert Lubec
Publisher: Springer Science & Business Media
Total Pages: 241
Release: 2013-03-13
Genre: Medical
ISBN: 3709167213

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"Advances in Down Syndrome Research” represents updated research in several areas of Down Syndrome (DS). A new promising animal model of DS is reported and this opens new opportunities to study pathomechanisms and pharmacological approaches as it is more than difficult to carry out studies in humans and the clinical features are highly variable. In terms of biology, cell cycle and stem cell studies and in terms of biochemistry, relevance of studies on a specific protein kinase, channels, transporters, superoxide dismutase, antioxidant system, chromosome assembly factor and other important biological structures are provided. And again, the gene dosage hypothesis is addressed and although the vast majority of chromosome 21 gene products is unchanged in fetal DS brain, a few specific chromosome 21 encoded structures including transcription factors are indeed overexpressed although findings in fetal DS are different from those in adult DS brain when Alzheimer-like neuropathology supervenes.

The Molecular Biology of Down Syndrome

The Molecular Biology of Down Syndrome
Author: G. Lubec
Publisher: Springer Science & Business Media
Total Pages: 380
Release: 1999-12-02
Genre: Medical
ISBN: 9783211833773

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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.

Assessing Genetic Risks

Assessing Genetic Risks
Author: Institute of Medicine
Publisher: National Academies Press
Total Pages: 353
Release: 1994-01-01
Genre: Medical
ISBN: 0309047986

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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.