Download or read book Gigantism and Acromegaly written by Constantine A. Stratakis and published by Academic Press. This book was released on 2021-06-01 with total page 312 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Download or read book The X in Sex written by David. BAINBRIDGE and published by Harvard University Press. This book was released on 2009-06-30 with total page 216 pages. Available in PDF, EPUB and Kindle. Book excerpt: A tiny scrap of genetic information determines our sex; it also consigns many of us to a life of disease, directs or disrupts the everyday working of our bodies, and forces women to live as genetic chimeras. The culprit--so necessary and yet the source of such upheaval--is the X chromosome, and this is its story. An enlightening and entertaining tour of the cultural and natural history of this intriguing member of the genome, The X in Sex traces the journey toward our current understanding of the nature of X. From its chance discovery in the nineteenth century to the promise and implications of ongoing research, David Bainbridge shows how the X evolved and where it and its counterpart Y are going, how it helps assign developing human babies their sex--and maybe even their sexuality--and how it affects our lives in infinitely complex and subtle ways. X offers cures for disease, challenges our cultural, ethical, and scientific assumptions about maleness and femaleness, and has even reshaped our views of human evolution and human nature. Table of Contents: Prologue 1. Making a Difference Interlude: What Is It, Exactly? 2. The Duke of Kent's Testicles Interlude: How Sexy Is X? 3. The Double Life of Women Epilogue: The Chosen One Further Reading Glossary Index Reviews of this book: The author of Making Babies takes a lively, witty tour of the X chromosome, creator of "a delicious symmetry between men and women"...Entertaining and informative...A fine demonstration of science made accessible. --Kirkus Reviews Reviews of this book: A well-written, well-researched, easy-to-read study that explains what has been learned about the X and Y chromosomes using DNA sequencing and other molecular biology techniques. British biologist Bainbridge...has pulled together historical and current scientific research about how the X and Y chromosomes affect us and what the genes on these chromosomes actually do, like causing sex-linked diseases and color blindness...An excellent example of good science writing...Recommended. --Margaret Henderson, Library Journal Reviews of this book: Bainbridge is an essentialist, interested in understanding what aspects of gender are biologically driven, and why...He has a central question he wants to answer. The question is not so much why men and women are different (a worn topic that's the subject of too many Mars-and-Venus bestsellers) but, far more specific and far more interesting: Why are men and women more different than they need to be? --Liza Mundy, Washington Post Reviews of this book: Bainbridge summarizes our knowledge of the genetic information that determines one's sex by recounting the ancients' speculations about the genesis of gender, following with modern biologists' discovery of the X and Y chromosomes about a century ago, and of the sex-determining gene Sry in the 1990s. In a discussion rich with history, evolution, and philosophy, Bainbridge points out the dramatic effect that gender selection has on people's lives...A fascinating, often humorous analysis of the science of sexuality. --Gilbert Taylor, Booklist Reviews of this book: In The X in Sex, David Bainbridge explains the far-reaching effects of X. Bainbridge...moves with ease between straightforward accounts of biology and historical stories about its effect, like the chapter describing the progression of hemophilia through the royal houses of Europe. Bainbridge discusses cultural history as well as natural history, and his wit enlivens every page. --Christine Kenneally, New York Times Book Review Reviews of this book: There are many literary stars (such as Stephen Jay Gould, Richard Dawkins and Matt Ridley) in the firmament of writers on evolution, and to a man they write with dash and persuasive logic. David Bainbridge is one such and in his latest book he takes the reader through the glories of the X chromosome at a cracking pace. --Miriam Stoppard, Times Higher Education Supplement (UK) Reviews of this book: The truth is that the behaviours of [chromosomes] X and Y are inextricably linked. Bainbridge explores this link in a compelling tale that takes in how the sex chromosomes became sex chromosomes, and the very different consequences of this for women and men. Along the way we encounter the Duke of Kent's testicles, calico cats and non-identical identical twin girls. His story weaves science, history and the history of science (with a little religion for good measure) in a straightforward, anecdotal fashion that will appeal to scientists and non-scientists alike. --Mark T. Ross, New Scientist (UK) Reviews of this book: In his structure/function analysis of the X chromosome, Bainbridge provides a tongue-in-cheek, yet informative, description of one of the two human sex chromosomes. --R. Adler, Choice Reviews of this book: If you have ever been intrigued by some of the puzzles of genetics--why boys tend to get haemophilia or colour blindness while girls are more likely to have an identical twin or to develop rheumatoid arthritis later in life--then The X in Sex is for you. --Chris Tyler-Smith, Times Literary Supplement David Bainbridge takes us on a fascinating tour of X chromosomes and explains what the possession of these intricately folded, infinitessimally narrow, two-inch long strings of genetic codes weighing almost nothing, means for their bearers--that is for each one of us, male and female. History and personal anecdotes are woven together with up-to-date summaries of the science, punctuated with Bainbridge's zany--and very British--humor, so that this information-packed book is pure pleasure to read. --Sarah Blaffer Hrdy author of Mother Nature: A History of Mothers, Infants, and Natural Selection The X in Sex is absolutely fascinating, so intriguing, in fact, that I found myself unwilling to put it down. David Bainbridge surveys an astonishing amount of new information from recent genomic studies of the X chromosome, clearly explaining the findings in a way the average person can easily follow. The science is presented via amusing and highly appropriate metaphors and clever turns of phrase, all of which serve to brighten the prose and present the reader with catchy ways to think about complex ideas. This is an informative, authoritative, and thoroughly enjoyable read: one of the best books I have read in recent years. --Jane Lancaster, University of New Mexico This is wonderful stuff--beautifully written, clear, jargon-free, with anecdotes sure to hold the attention. --other hupauthorTim Birkhead, author of Promiscuity: An Evolutionary History of Sperm Competition

Download or read book The Better Half written by Dr. Sharon Moalem, MD, PhD and published by Farrar, Straus and Giroux. This book was released on 2020-04-07 with total page 288 pages. Available in PDF, EPUB and Kindle. Book excerpt: A Guardian Book of the Week Longlisted for the PEN / E. O. Wilson Literary Science Writing Award An award-winning physician and scientist makes the game-changing case that genetic females are stronger than males at every stage of life Here are some facts: Women live longer than men. They have stronger immune systems. They're better at fighting cancer and surviving famine, and even see the world in a wider variety of colors. They are simply stronger than men at every stage of life. Why is this? And why are we taught the opposite? To find out, Dr. Sharon Moalem drew on his own medical experiences - treating premature babies in the neonatal intensive care unit; recruiting the elderly for neurogenetic studies; tending to HIV-positive orphans in Thailand - and tried to understand why in every instance men were consistently less likely to thrive. The answer, he discovered, lies in our genetics: two X chromosomes offer a powerful survival advantage. With clear, captivating prose that weaves together eye-opening research, case studies, diverse examples ranging from the behavior of honeybees to American pioneers, as well as experiences from his personal life and his own patients, Moalem explains why genetic females triumph over males when it comes to resiliency, intellect, stamina, immunity and much more. He also calls for a reconsideration of our male-centric, one-size-fits-all view of medical studies and even how we prescribe medications - a view that still sees women through the lens of men. Revolutionary and yet utterly convincing, The Better Half will make you see humanity and the survival of our species anew.

Download or read book Exploring the Biological Contributions to Human Health written by Institute of Medicine and published by National Academies Press. This book was released on 2001-07-02 with total page 287 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Sex Itself written by Sarah S. Richardson and published by University of Chicago Press. This book was released on 2013-12-13 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human genomes are 99.9 percent identical—with one prominent exception. Instead of a matching pair of X chromosomes, men carry a single X, coupled with a tiny chromosome called the Y. Tracking the emergence of a new and distinctive way of thinking about sex represented by the unalterable, simple, and visually compelling binary of the X and Y chromosomes, Sex Itself examines the interaction between cultural gender norms and genetic theories of sex from the beginning of the twentieth century to the present, postgenomic age. Using methods from history, philosophy, and gender studies of science, Sarah S. Richardson uncovers how gender has helped to shape the research practices, questions asked, theories and models, and descriptive language used in sex chromosome research. From the earliest theories of chromosomal sex determination, to the mid-century hypothesis of the aggressive XYY supermale, to the debate about Y chromosome degeneration, to the recent claim that male and female genomes are more different than those of humans and chimpanzees, Richardson shows how cultural gender conceptions influence the genetic science of sex. Richardson shows how sexual science of the past continues to resonate, in ways both subtle and explicit, in contemporary research on the genetics of sex and gender. With the completion of the Human Genome Project, genes and chromosomes are moving to the center of the biology of sex. Sex Itself offers a compelling argument for the importance of ongoing critical dialogue on how cultural conceptions of gender operate within the science of sex.

Download or read book Females Are Mosaics written by Barbara Migeon and published by Oxford University Press. This book was released on 2014 with total page 328 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the only book about the X chromosome as a key to female development and the role of X-related factors in the etiology of sex differences in human disease. This new edition reflects research advances from the six years since the widely praised first edition.

Download or read book X Y Chromosomal Variations written by Carole A. Samango-Sprouse and published by Biota Publishing. This book was released on 2016-10-11 with total page 138 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Chromosome 6 written by Robin Cook and published by Penguin. This book was released on 1998-04-01 with total page 484 pages. Available in PDF, EPUB and Kindle. Book excerpt: “Master of the medical thriller.”—The New York Times In his most prophetic thriller yet, Robin Cook goes behind the headlines on cloning and genetic manipulation, blending fact with fiction in this terrifying bestseller. In the jungles of equatorial Africa, a biotechnology giant has taken transplant surgery and animal research to a new level—where one mistake could bridge the evolutionary gap between man and ape and forever change the genetic map of our existence. Meanwhile, in New York City, Jack Stapleton and Laurie Montgomery are working on a seemingly unrelated murder of a mobster, only to find some very odd things once their victim is on the autopsy table...

Download or read book Small Supernumerary Marker Chromosomes sSMC written by Thomas Liehr and published by Springer Science & Business Media. This book was released on 2011-11-03 with total page 233 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.

Download or read book Sex Chromosomes and Sex Linked Genes written by Susumu Ohno and published by Springer Science & Business Media. This book was released on 2013-06-29 with total page 201 pages. Available in PDF, EPUB and Kindle. Book excerpt: Natural selection operates among individual organisms which differ in their genetic constitution. The degree of hereditary variability within a species is greatly enhanced by cross-fertilization. Indeed, the mechanism of sexual reproduction occurred very early in evolution, for it is seen today even in bacteria. In Escherichia coli, fertilization occurs by passage of the single chromosome from the male into the female bacterium (LEDERBERG, 1959). In multicellular organisms, the separation of germ from soma, and the production of haploid gametes became mandatory. The gametes were of two types. One, extremely mobile, was designed to seek out and penetrate the other, which loaded with nutrients, received the mobile gamete and intiated the development of a new individual. The foundation for true bisexuality was thus laid. In the primitive state of bisexuality, whether an individual is to be a sperm-producing male or an egg-producing female appears to be decided rather haphazardly. In the worm, Banelia viridis, the minute males are parasites in the female. Larvae that become attached to the proboscis of an adult female become males, while unattached larvae sink to the bottom and become females (BALTZER, 1935). The more sophisticated state of bisexuality was initiated by setting aside a particular pair of chromosomes for specialization and making either the male or the female a heterogametic sex. Sex chromosomes as we know them were thus born.

Download or read book Genetic Analysis of the X Chromosome written by Henry F. Epstein and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 217 pages. Available in PDF, EPUB and Kindle. Book excerpt: The present volume contains the edited transcript of a collo quium sponsored by the Muscular Dystrophy Association and held at Mountain Shadows Inn, Scottsdale, Arizona, December 14-16, 1981. The participants, geneticists, molecular biologists, bio chemists and clinicians, explored in open dialogue ways and means of identifying and characterizing the genetic alterations responsible for X-linked muscular dystrophies, especially the Duchenne type. The clinicians, who urged the use of properly diagnosed and documented case material for study, emphasized the troublesome fact that the primary phenotypic expression of the gene (or genes) involved in the muscular dystrophies is yet to be identified. Discussions centered on the applicability of recent methodol ogical advances in DNA chemistry and molecular biology, cytogenetics and cell biology to mapping the X chromosome. Despite ignorance of the basic disorder in the muscular dystrophies, DNA technologies and chromosome mapping strategies for the discovery of genetic defects and phenotypic expressions were proposed. Beyond its stimulating intellectual exchange, the colloquium yielded important benefits. The participants agreed to share needed cell lines and endonuclease restriction enzymes and to organize interlaboratory communication and collaborative efforts to accelerate progress in the quest for the genetic lesion in Duchenne muscular dystrophy. The discussions were recorded, transcribed, edited and to some extent, rearranged to fit into a sequence of chapters. The editors are grateful to Joy Colarusso Lowe whose unusual skill, patience and persistence made it possible to convert a highly specialized technical discussion into a coherent manuscript.

Download or read book Genome written by Matt Ridley and published by Harper Collins. This book was released on 2013-03-26 with total page 370 pages. Available in PDF, EPUB and Kindle. Book excerpt: “Ridley leaps from chromosome to chromosome in a handy summation of our ever increasing understanding of the roles that genes play in disease, behavior, sexual differences, and even intelligence. . . . . He addresses not only the ethical quandaries faced by contemporary scientists but the reductionist danger in equating inheritability with inevitability.” — The New Yorker The genome's been mapped. But what does it mean? Matt Ridley’s Genome is the book that explains it all: what it is, how it works, and what it portends for the future Arguably the most significant scientific discovery of the new century, the mapping of the twenty-three pairs of chromosomes that make up the human genome raises almost as many questions as it answers. Questions that will profoundly impact the way we think about disease, about longevity, and about free will. Questions that will affect the rest of your life. Genome offers extraordinary insight into the ramifications of this incredible breakthrough. By picking one newly discovered gene from each pair of chromosomes and telling its story, Matt Ridley recounts the history of our species and its ancestors from the dawn of life to the brink of future medicine. From Huntington's disease to cancer, from the applications of gene therapy to the horrors of eugenics, Ridley probes the scientific, philosophical, and moral issues arising as a result of the mapping of the genome. It will help you understand what this scientific milestone means for you, for your children, and for humankind.

Download or read book Molecular Biology of The Cell written by Bruce Alberts and published by . This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book ISCN 2013 written by International Standing Committee on Human Cytogenetic Nomenclature and published by Karger Medical and Scientific Publishers. This book was released on 2013 with total page 148 pages. Available in PDF, EPUB and Kindle. Book excerpt: This publication extends the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research' since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Seattle, Wash., in April 2012, the ISCN 2013 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations. There are several new features in ISCN 2013: an update of the microarray nomenclature, many more illustrative examples of uses of nomenclature in all sections some definitions including chromothripsis and duplication a new chapter for nomenclature that can be used for any region-specific assay. The ISCN 2013 is an indispensable reference volume for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature.

Download or read book Molecular Neurology written by Stephen Waxman and published by Elsevier. This book was released on 2010-07-26 with total page 597 pages. Available in PDF, EPUB and Kindle. Book excerpt: Why a book on molecular neurology? Molecular neuroscience is advancing at a spectacular rate. As it does so, it is revealing important clues to the pathogenesis and pathophysiology of neurological diseases, and to the therapeutic targets that they present. Medicines work by targeting molecules. The more specific the targeting, the more specific the actions, and the fewer the side effects. Molecular Neurology highlights, for graduate and MD-PhD students, research fellows and research-oriented clinical fellows, and researchers in the neurosciences and other biomedical sciences, the principles underlying molecular medicine as related to neurology. Written by internationally recognized experts, this well-illustrated and well-referenced book presents the most up-to-date principles and disease examples relevant to molecular neurology, and reviews the concepts, strategies, and latest progress in this field. This book will interest anyone studying the molecular basis of neurology, or developing new therapies in neurology. Describes the newest molecular aspects of neurological disorders Provides an introduction to neurological disorders for basic scientists Updates clinicians and clinical researchers on the most recent developments

Download or read book Living with Klinefelter Syndrome Trisomy X and 47 Xyy A Guide for Families and Individuals Affected by X and Y Chromosome Variations written by Virginia Isaacs Cover Msw and published by Virginia Isaacs Cover. This book was released on 2012-03 with total page 202 pages. Available in PDF, EPUB and Kindle. Book excerpt: This comprehensive guide to X and Y chromosome aneuploidy is written in lay language for affected individuals and their families, providing an authoritative volume that explains X and Y chromosome variations in clear and accurate terms. These surprisingly common genetic conditions, affecting 1 in 500 individuals, include Klinefelter syndrome, Trisomy X and 47,XYY. This guide provides a lifespan approach to the three trisomy conditions, as well as their less common variations involving 48 and 49 chromosomes. Readers are provided clear explanations of the genetics involved, diagnosis and disclosure issues, development from infancy through early adulthood, potential health and fertility concerns, and educational and psychosocial considerations. The text is illustrated with actual quotations from those who live with the disorders, and provides not only descriptions of potential concerns, but also strategies for successfully addressing the challenges that may develop.

Download or read book The Philadelphia Chromosome A Genetic Mystery a Lethal Cancer and the Improbable Invention of a Lifesaving Treatment written by Jessica Wapner and published by The Experiment, LLC. This book was released on 2014-04-08 with total page 345 pages. Available in PDF, EPUB and Kindle. Book excerpt: One of The Wall Street Journal’s 10 Best Nonfiction Books of the Year Philadelphia, 1959: A scientist scrutinizing a single human cell under a microscope detects a missing piece of DNA. That scientist, David Hungerford, had no way of knowing that he had stumbled upon the starting point of modern cancer research— the Philadelphia chromosome. It would take doctors and researchers around the world more than three decades to unravel the implications of this landmark discovery. In 1990, the Philadelphia chromosome was recognized as the sole cause of a deadly blood cancer, chronic myeloid leukemia, or CML. Cancer research would never be the same. Science journalist Jessica Wapner reconstructs more than forty years of crucial breakthroughs, clearly explains the science behind them, and pays tribute—with extensive original reporting, including more than thirty-five interviews—to the dozens of researchers, doctors, and patients with a direct role in this inspirational story. Their curiosity and determination would ultimately lead to a lifesaving treatment unlike anything before it. The Philadelphia Chromosome chronicles the remarkable change of fortune for the more than 70,000 people worldwide who are diagnosed with CML each year. It is a celebration of a rare triumph in the battle against cancer and a blueprint for future research, as doctors and scientists race to uncover and treat the genetic roots of a wide range of cancers.