X & Y Chromosomal Variations PDF Download
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Author: Carole A. Samango-Sprouse
Publisher: Biota Publishing
ISBN: 1615046917
Category : Medical
Languages : en
Pages : 138
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Book Description
This is the first book on X and Y chromosomal disorders to address these common but rarely diagnosed conditions. This book seeks to present the latest in research and clinical care addressing neuroimaging, the interaction between hormones, brain development, and neurodevelopmental progression. This book will primarily focus on 47, XXY (Klinefelter syndrome, or KS), 47, XYY (Jacobs' syndrome), and 47, XXX (Triple X). More variant disorders such as 48, XXXX, 48, XXXY and 49, XXXXY will be discussed. Topics of interest include neurological functioning, neuroimaging, social language, and the evolving perspectives of these XY chromosomal disorders. The effects of testosterone supplementation in males with 47, XXY will also be examined.
Author: Carole A. Samango-Sprouse
Publisher: Biota Publishing
ISBN: 1615046917
Category : Medical
Languages : en
Pages : 138
Get Book
Book Description
This is the first book on X and Y chromosomal disorders to address these common but rarely diagnosed conditions. This book seeks to present the latest in research and clinical care addressing neuroimaging, the interaction between hormones, brain development, and neurodevelopmental progression. This book will primarily focus on 47, XXY (Klinefelter syndrome, or KS), 47, XYY (Jacobs' syndrome), and 47, XXX (Triple X). More variant disorders such as 48, XXXX, 48, XXXY and 49, XXXXY will be discussed. Topics of interest include neurological functioning, neuroimaging, social language, and the evolving perspectives of these XY chromosomal disorders. The effects of testosterone supplementation in males with 47, XXY will also be examined.
Author: Digamber S. Borgaonkar
Publisher: John Wiley & Sons
ISBN: 9780471833369
Category : Science
Languages : en
Pages : 0
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Book Description
Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 9780309132978
Category : Medical
Languages : en
Pages : 288
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Book Description
It's obvious why only men develop prostate cancer and why only women get ovarian cancer. But it is not obvious why women are more likely to recover language ability after a stroke than men or why women are more apt to develop autoimmune diseases such as lupus. Sex differences in health throughout the lifespan have been documented. Exploring the Biological Contributions to Human Health begins to snap the pieces of the puzzle into place so that this knowledge can be used to improve health for both sexes. From behavior and cognition to metabolism and response to chemicals and infectious organisms, this book explores the health impact of sex (being male or female, according to reproductive organs and chromosomes) and gender (one's sense of self as male or female in society). Exploring the Biological Contributions to Human Health discusses basic biochemical differences in the cells of males and females and health variability between the sexes from conception throughout life. The book identifies key research needs and opportunities and addresses barriers to research. Exploring the Biological Contributions to Human Health will be important to health policy makers, basic, applied, and clinical researchers, educators, providers, and journalists-while being very accessible to interested lay readers.
Author: Genetic Alliance
Publisher: Lulu.com
ISBN: 0982162219
Category : Biology
Languages : en
Pages : 104
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Book Description
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.
Author: Digamber S. Borgaonkar
Publisher:
ISBN:
Category : Chromosome abnormalities
Languages : en
Pages : 466
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Book Description
Over 1500 entries to literature (mostly English-language journal articles). Sources were Current contents, various genetics journals, Excerpta medica, and Index medicus. Entries arranged under sections titled Structural variations and anomalies, Numerical anomalies, and Chromosome breakage syndromes. Author, selected syndrome index.
Author: R.J. McKinlay Gardner
Publisher: Oxford University Press
ISBN: 019932901X
Category : Medical
Languages : en
Pages : 634
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Book Description
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.
Author: Constantine A. Stratakis
Publisher: Academic Press
ISBN: 0128145382
Category : Medical
Languages : en
Pages : 312
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Book Description
Gigantism and Acromegaly brings together pituitary experts, taking readers from bench research, to genetic analysis, clinical analysis, and new therapeutic approaches. This book serves as a reference for growth hormone over-secretion and its diagnosis and treatment for endocrinologists, pediatricians, internists, and neurosurgeons, and for geneticists. Pharmaceutical companies may use it as a reference for drug development and research. Students, residents and fellows in medicine and endocrinology and genetics will also find it valuable as it provides a single up-to-date review of the molecular biology of gigantism and acromegaly as well as recommended approaches to evaluation and management. Acromegaly is a rare pituitary disorder that slowly changes its adult victim’s appearance over time: larger hands and feet, bigger jaw, forehead, nose, and lips. Generally, a benign pituitary tumor is the cause and symptoms of acromegaly can vary from patient to patient, making a diagnosis difficult and prolonging suffering for years. Early detection is key in the management of acromegaly as the pathologic effects of increased growth hormone (GH) production are progressive and can be life-threatening as the result of associated cardiovascular, cerebrovascular, and respiratory disorders and malignancies. Accessible, up-to-date overview of the characteristics, state-of-the-art diagnostic procedures, and management of acromegaly and gigantism Provides a unique compendium of endocrinology, genetics, clinical diagnosis and therapeutics Contains contributions from internationally known experts who have treated patients with acromegaly and gigantism
Author: Mark Harries
Publisher: Oxford University Press, USA
ISBN: 9780192632364
Category : Sports medicine
Languages : en
Pages : 0
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Book Description
HIGHLY COMMENDED IN THE 1999 BMA AWARDS. Available in paperback for the first time, the second edition of this well-referenced and unique textbook of sports science and medicine. The book covers the principles of sports physiology and internal medicine as it relates to athletes and theirperformance, orthopaedics and injuries to the soft tissues, and the physiological basis of training and fitness maintenance. With a distinguished and authoritative panel of authors, the multidisciplinary, international approach has a practical emphasis on the treatment of sports injuries.The second edition of this popular textbook has been fully up-dated and restructured for increased ease-of-use and will include new sections on: Body composition (both how to measure it and how to apply the information; Mechanical tests (how to do them and what they show); Immunological aspects ofsport; Overtraining.From reviews of 2nd edition: 'All in all, this is an excellent book. Its strengths lie in the very scientific presentation on exercise physiology, followed by detailed and practical discussions of virtually all acute sports injuries. I believe this is a textbook that should be in the library ofall sports medicine departments in Canadian universities...' Canadian Medical Association. 'A comprehensive and high quality textbook which I feel can justifiably call itself the main reference text in sports medicine now...' Rheumatology in Europe. From reviews of 1st edition: 'This OxfordTextbook is an authoritative and major volume; a landmark in sports medicine, and indeed its gold standard. It is a magnificent text with a wealth of household names among the authors, and an extremely high standard of writing. The four editors and Oxford University Press are to be congratulated.'Journal of Sports Medicine. 'all-star cast of contributors' Official Journal of the American College of Sports Medicine. 'This comprehensive textbook will be a useful resource for any medical practitioner interested in the treatment of patients who participate in amateur or professional sports.The is an excellent reference for specialists, specialists in training , and general practioners.' Annals RCPSC. 'The Oxford Textbook of Sports Medicine is a multi-authored multi-editor volume that embraces many aspects of sports medicine, concentrating mainly on sports injuries, with a definiteNorth American and British flavour. The book is an excellent overview of the advances that have occured in the past half century or so, giving the reader sound grounding in the basic science knowledge necessary to back up clinical practice. The great advantage of the Oxford Textbook of SportsMedicine is that the various topics are all together, and can be used as a useful initial landmark for further more specialised reading.' BMJ
Author: John C. Carey
Publisher: John Wiley & Sons
ISBN: 1119432677
Category : Science
Languages : en
Pages : 1104
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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.
Author: Torbjoern Caspersson
Publisher: Elsevier
ISBN: 0323162673
Category : Science
Languages : en
Pages : 356
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Book Description
Chromosome Identification—Technique and Applications in Biology and Medicine contains the proceedings of the Twenty-Third Nobel Symposium held at the Royal Swedish Academy of Sciences in Stockholm, Sweden, on September 25-27,1972. The papers review advances in chromosome banding techniques and their applications in biology and medicine. Techniques for the study of pattern constancy and for rapid karyotype analysis are discussed, along with cytological procedures; karyotypes in different organisms; somatic cell hybridization; and chemical composition of chromosomes. This book is comprised of 51 chapters divided into nine sections and begins with a survey of the cytological procedures, including fluorescence banding techniques, constitutive heterochromatin (C-band) technique, and Giemsa banding technique. The following chapters explore computerized statistical analysis of banding pattern; the use of distribution functions to describe integrated profiles of human chromosomes; the uniqueness of the human karyotype; and the application of somatic cell hybridization to the study of gene linkage and complementation. The mechanisms for certain chromosome aberration are also analyzed, together with fluorescent banding agents and differential staining of human chromosomes after oxidation treatment. This monograph will be of interest to practitioners in the fields of biology and medicine.
