The Man Behind The Syndrome

Author : Greta Beighton
Publisher : Springer
Page : 240 pages
File Size : 40,5 Mb
Release : 1991-05-28
Category : Medical
ISBN : 3540162186

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The Man Behind the Syndrome by Greta Beighton Pdf

The Man Behind the Syndrome by my friends and colleagues Peter and Greta Beighton is a delightful book which will be read eagedy and with keen intellectual pleasure by all human, medical, and dinical genetieists. The reader with a historical tum of mind will note right away that the book achieyes more than the usual entry in a dictionary of seientific biography. In addition to the standard professional data, it gives a photo and some personal glimpses of the man, allowing the reader to appreeiate his human qualities as weIl. This volume contains, so to speak, the creme de la creme, namely, those in a group whose names are daily on the lips of every practicing dinical geneticist. This interesting and instructive book is commended to all in medical genetics and the history of medieine with the highest enthusiasm and gratitude to its authors for undertaking this labor of love. A second volume is planned for more recently delineated disorders for which an eponym is not yet widely used.

Author : Peter Beighton,Greta Beighton
Publisher : Springer Science & Business Media
Page : 256 pages
File Size : 54,7 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9781447114154

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The Man Behind the Syndrome by Peter Beighton,Greta Beighton Pdf

The Man Behind the Syndrome by my friends and colleagues Peter and Greta Beighton is a delightful book which will be read eagedy and with keen intellectual pleasure by all human, medical, and dinical genetieists. The reader with a historical tum of mind will note right away that the book achieyes more than the usual entry in a dictionary of seientific biography. In addition to the standard professional data, it gives a photo and some personal glimpses of the man, allowing the reader to appreeiate his human qualities as weIl. This volume contains, so to speak, the creme de la creme, namely, those in a group whose names are daily on the lips of every practicing dinical geneticist. This interesting and instructive book is commended to all in medical genetics and the history of medieine with the highest enthusiasm and gratitude to its authors for undertaking this labor of love. A second volume is planned for more recently delineated disorders for which an eponym is not yet widely used.

Author : Greta Beighton
Publisher : Springer Science & Business Media
Page : 694 pages
File Size : 42,9 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9781447109259

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The Person Behind the Syndrome by Greta Beighton Pdf

A decade after the publication of The Man Behind the Syndrome, which was warmly received, particularly by medical geneticists, syndromologists and those doctors from many different dis ciplines with an interest in medical history, Peter and Greta Beighton now present the second volume of their work, promised ten years ago. The length of time which has passed since the pub lication of the first book gives an inkling of the extraordinary effort involved on the part of the authors in collecting the necessary biographical data and the portraits of their subjects. The Person Behind the Syndrome conforms exactly in structure, quality and size with the first volume, thus facilitating the use of the series. Again we find detailed presentations of a hundred people who have given their names to disorders or syndromes which are thought to have a significant genetic or chromosomal component (with a photograph or portrait, biography, com mentary on the development of nomenclature and references). The reader finds information not only on the doctor and/or scientist under discussion, but also, as in the previous volume, on the person behind the name. This is followed by brief, un illustrated biographies of about seventy, mostly younger and, in some cases, still professionally active personalities.

Author : Quinn Bradlee
Publisher : Hachette UK
Page : 256 pages
File Size : 51,9 Mb
Release : 2010-03-02
Category : Biography & Autobiography
ISBN : 9780786741403

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A Different Life by Quinn Bradlee Pdf

Ten percent of the population is affected by a learning disability, but few of us understand what being learning disabled (LD) is really like. When he was fourteen, Bradlee was diagnosed with Velo-Cardio-Facial-Syndrome (VCFS), a wide-spread, little-understood disorder that is expressed through a wide range of physical ailments and learning disabilities. In this funny, moving, and often irreverent book, Bradlee tells his own inspirational story of growing up as an LD kid -- and of doing so as the child of larger-than-life, formidably accomplished parents: long-time Washington Post executive editor Ben Bradlee and bestselling author Sally Quinn. From his difficulties reading social cues, to his cringe-worthy loss of sexual innocence, Bradlee describes the challenges and joys of living "a different life" with disarming candor and humor. By the end of A Different Life he will have become, if not your best friend, one of your favorite people.

Author : Paula Bruno
Publisher : Singing Dragon
Page : 290 pages
File Size : 44,6 Mb
Release : 2023-09-21
Category : Medical
ISBN : 9781839974991

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Chinese Medicine and the Management of Hypermobile Ehlers-Danlos Syndrome by Paula Bruno Pdf

Hypermobility syndromes are more common, complex and varied than most practitioners realise. Every hypermobile patient is unique, and therefore challenging to treat using a pre-set paradigm or protocol. The hEDS population can be underserved by Western medicine and there is much that Chinese medicine can do for this community. This book is one of the first of its kind - a Chinese Medicine text focusing specifically on hypermobile Ehlers-Danlos Syndrome. Presenting existing bio-medical narratives before providing an in-depth exploration of the Chinese Medicine paradigms, this guide gives an overview of comprehensive treatment scenarios and addresses issues faced by EDS patients including pain management, psycho-emotional challenges, disruption of gut health, and chronic inflammation, including post-Lyme syndrome.

Author : David M. Yates,Michael R. Markiewicz
Publisher : Springer Nature
Page : 516 pages
File Size : 40,5 Mb
Release : 2022-01-03
Category : Medical
ISBN : 9783030847333

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Craniofacial Microsomia and Treacher Collins Syndrome by David M. Yates,Michael R. Markiewicz Pdf

The book provides a framework for diagnosis and treatment of the complex facial deformities found in craniofacial microsomia and Treacher Collins syndrome. These conditions are difficult to treat due to their complexity and variable presentation. The deformities may be mild or severe and merely cosmetic to life-threatening in nature. These conditions often manifest as complex facial deformities that require multiple surgical interventions. Timing is critical when treating these patients and knowing and choosing the correct operation is key to successful outcomes. This work provides a comprehensive approach in treating these complex patient populations, seeking to answer the following questions: When to operate versus when to wait? If operating is required what operation should be performed? What is the best orthodontic approach to the associated dental deformities that develop with these conditions? How should sleep apnea be evaluated and treated in this population? What is the best management for feeding patients with these conditions? Written by experts in the field, Craniofacial Microsomia and Treacher Collins Syndrome: Comprehensive Treatment of Associated Facial Deformities aims to provide the reader with literature based best practices in treating these children from the NICU through childhood and into adulthood.

Author : Oliver Sacks
Publisher : Knopf Canada
Page : 336 pages
File Size : 45,7 Mb
Release : 2021-09-14
Category : Biography & Autobiography
ISBN : 9781039002494

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The Man Who Mistook His Wife for a Hat by Oliver Sacks Pdf

In his most beloved and extraordinary book, Dr. Sacks recounts the case histories of patients inhabiting the compelling world of neurological disorders. Featuring a preface never before included. Oliver Sacks's The Man Who Mistook His Wife for a Hat tells the stories of individuals afflicted with perceptual and intellectual disorders: patients who have lost their memories and with them the greater part of their pasts; who are no longer able to recognize people and common objects; whose limbs seem alien to them; who lack some skills yet are gifted with uncanny artistic or mathematical talents. In Dr. Sacks's splendid and sympathetic telling, his patients are deeply human, and his tales are studies of struggles against incredible adversity. A great healer, Sacks never loses sight of medicine's ultimate responsibility: "the suffering, afflicted, fighting human subject."

Author : Roger N. Rosenberg,Juan M. Pascual
Publisher : Academic Press
Page : 1013 pages
File Size : 51,5 Mb
Release : 2020-06-24
Category : Medical
ISBN : 9780128139561

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Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease by Roger N. Rosenberg,Juan M. Pascual Pdf

Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Sixth Edition: Volume One, provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Provides a detailed introduction on both the clinical and basic research implications of molecular and genetics surrounding the brain Includes new chapters on molecular genomics, CRISPR and the most recent updates in molecular genetics

Author : Andrew J. Hogan
Publisher : Johns Hopkins University Press+ORM
Page : 264 pages
File Size : 54,8 Mb
Release : 2016-10-30
Category : Medical
ISBN : 9781421420752

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Life Histories of Genetic Disease by Andrew J. Hogan Pdf

A richly detailed history that “uncovers the challenges and limitations of our increasing reliance on genetic data in medical decision making” (Shobita Parthasarathy, author of Building Genetic Medicine). Medical geneticists began mapping the chromosomal infrastructure piece by piece in the 1970s by focusing on what was known about individual genetic disorders. Five decades later, their infrastructure had become an edifice for prevention, allowing expectant parents to test prenatally for hundreds of disease-specific mutations using powerful genetic testing platforms. In this book, Andrew J. Hogan explores how various diseases were “made genetic” after 1960, with the long-term aim of treating and curing them using gene therapy. In the process, he explains, these disorders were located in the human genome and became targets for prenatal prevention, while the ongoing promise of gene therapy remained on the distant horizon. In narrating the history of research that contributed to diagnostic genetic medicine, Hogan describes the expanding scope of prenatal diagnosis and prevention. He draws on case studies of Prader-Willi, fragile X, DiGeorge, and velo-cardio-facial syndromes to illustrate that almost all testing in medical genetics is inseparable from the larger—and increasingly “big data”–oriented—aims of biomedical research. Hogan also reveals how contemporary genetic testing infrastructure reflects an intense collaboration among cytogeneticists, molecular biologists, and doctors specializing in human malformation. Hogan critiques the modern ideology of genetic prevention, which suggests all pregnancies are at risk for genetic disease and should be subject to extensive genomic screening. He examines the dilemmas and ethics of the use of prenatal diagnostic information in an era when medical geneticists and biotechnology companies offer whole genome prenatal screening—essentially searching for any disease-causing mutation. Hogan’s analysis is animated by ongoing scientific and scholarly debates about the extent to which the preventive focus in contemporary medical genetics resembles the aims of earlier eugenicists. Written for historians, sociologists, and anthropologists of science and medicine, as well as bioethics scholars, physicians, geneticists, and families affected by genetic conditions, Life Histories of Genetic Disease is a profound exploration of the scientific culture surrounding malformation and mutation.

Author : Jennifer Latson
Publisher : Simon and Schuster
Page : 304 pages
File Size : 46,9 Mb
Release : 2017-06-20
Category : Social Science
ISBN : 9781476774060

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The Boy Who Loved Too Much by Jennifer Latson Pdf

The acclaimed, poignant story of a boy with Williams syndrome, a condition that makes people biologically incapable of distrust, a “well-researched, perceptive exploration of a rare genetic disorder seen through the eyes of a mother and son” (Kirkus Reviews). What would it be like to see everyone as a friend? Twelve-year-old Eli D’Angelo has a genetic disorder that obliterates social inhibitions, making him irrepressibly friendly, indiscriminately trusting, and unconditionally loving toward everyone he meets. It also makes him enormously vulnerable. On the cusp of adolescence, Eli lacks the innate skepticism that will help him navigate coming-of-age more safely—and vastly more successfully. In “a thorough overview of Williams syndrome and its thought-provoking paradox” (The New York Times), journalist Jennifer Latson follows Eli over three critical years of his life, as his mother, Gayle, must decide whether to shield Eli from the world or give him the freedom to find his own way and become his own person. Watching Eli’s artless attempts to forge connections, Gayle worries that he might never make a real friend—the one thing he wants most in life. “As the book’s perspective deliberately pans out to include teachers, counselors, family, friends, and, finally, Eli’s entire eighth-grade class, Latson delivers some unforgettable lessons about inclusion and parenthood,” (Publishers Weekly). The Boy Who Loved Too Much explores the way a tiny twist in a DNA strand can strip away the skepticism most of us wear as armor, and how this condition magnifies some of the risks we all face in opening our hearts to others. More than a case study of a rare disorder, The Boy Who Loved Too Much “is fresh and engaging…leavened with humor” (Houston Chronicle) and a universal tale about the joys and struggles of raising a child, of growing up, and of being different.

Author : Shlomo Melmed, MBChB, MACP,Kenneth S. Polonsky, MD,P. Reed Larsen, MD, FRCP,Henry M. Kronenberg, MD
Publisher : Elsevier Health Sciences
Page : 1944 pages
File Size : 46,7 Mb
Release : 2015-11-30
Category : Medical
ISBN : 9780323297387

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Williams Textbook of Endocrinology by Shlomo Melmed, MBChB, MACP,Kenneth S. Polonsky, MD,P. Reed Larsen, MD, FRCP,Henry M. Kronenberg, MD Pdf

For more than 65 years, Williams Textbook of Endocrinology has been the gold standard in the field, delivering authoritative guidance on every aspect of adult and pediatric endocrine system disorders. The 13th Edition has been thoroughly updated by Drs. Shlomo Melmed, Kenneth S. Polonsky, P. Reed Larsen, and Henry M. Kronenberg, to bring you state-of-the-art coverage of diabetes, metabolic syndrome, obesity, thyroid disease, testicular disorders, and much more, all designed to help you provide optimal care to every patient. Bridging the gap between basic science and clinical information, it is an essential, relevant resource for endocrinologists, endocrine surgeons, gynecologists, internists, and pediatricians - any clinician who needs the most reliable coverage available on the diverse features across the spectrum of endocrine disease. Obtain a better understanding of both scientific insight and clinical data from the classic reference that delivers the current information you need in a highly illustrated, user-friendly format. Stay up to date with expanded discussions of autoimmune thyroid diseases, mechanisms, and the appropriate treatment of the ophthalmopathy of Graves' disease; a new section on the interpretation of fine needle aspiration results in patients with thyroid nodules; and new coverage of when and when not to use radioiodine in the treatment of patients with thyroid cancer. Update your knowledge and skills with all-new chapters on Genetics of Endocrine Disease, Endocrinology of Population Health, and Laboratory Techniques for Recognition of Endocrine Disorders. Confidently manage any clinical endocrinopathy you may encounter thanks to new information on recent FDA-approved drugs for pituitary disorders, a new focus on pediatrics, and new content on diabetes, obesity, and appetite control. Benefit from the expertise of dynamic new contributors who offer fresh perspectives throughout.

Author : Anonim
Publisher : Unknown
Page : 1772 pages
File Size : 52,7 Mb
Release : 2000
Category : Medicine
ISBN : OSU:32436010864526

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Cumulated Index Medicus by Anonim Pdf

Author : Carl Cederström,Andre Spicer
Publisher : John Wiley & Sons
Page : 200 pages
File Size : 52,8 Mb
Release : 2015-02-04
Category : Philosophy
ISBN : 9780745688718

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The Wellness Syndrome by Carl Cederström,Andre Spicer Pdf

Not exercising as much as you should? Counting your caloriesin your sleep? Feeling ashamed for not being happier? You may be avictim of the wellness syndrome. In this ground-breaking new book, Carl Cederström andAndré Spicer argue that the ever-present pressure to maximizeour wellness has started to work against us, making us feel worseand provoking us to withdraw into ourselves. The Wellness Syndromefollows health freaks who go to extremes to find the perfect diet,corporate athletes who start the day with a dance party, and theself-trackers who monitor everything, including their own toilethabits. This is a world where feeling good has becomeindistinguishable from being good. Visions of social change havebeen reduced to dreams of individual transformation, politicaldebate has been replaced by insipid moralising, and scientificevidence has been traded for new-age delusions. A lively andhumorous diagnosis of the cult of wellness, this book is anindispensable guide for everyone suspicious of our relentless questto be happier and healthier.

Author : Oliver Sacks
Publisher : Vintage Canada
Page : 438 pages
File Size : 40,6 Mb
Release : 2014-01-27
Category : Psychology
ISBN : 9780307367808

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An Anthropologist on Mars by Oliver Sacks Pdf

Here are seven detailed and fascinating portraits of neurological patients, including a surgeon consumed by the compulsive tics of Tourette's syndrome unless he is operating; an artist who loses all sense of color in a car accident, but finds a new sensibility and creative power in black and white; and an autistic professor who cannot decipher the simplest social exchange between humans, but has built a career out of her intuitive understanding of animal behavior. Sacks combines the well honed mind of an academician with the verve of a true storyteller, and manages to produce a book at once accessible and challenging. The capacity to observe the patient as a different form of human being, instead of as just an 'interesting case', is a true insight into what Medicine should be; furthermore, as the author insistently teaches, neurological diseases differ from other ailments in that they become a true portion of the persona, and ,in a sense, they belong to the patient, whereas most people consider disease to be something that 'happens' to them, an outside influence not to be confused with the true Self. It is a truly accessible and moving book, and teaches us all something about the diversity and depths of the human kind.

Author : David Egan
Publisher : Rowman & Littlefield
Page : 177 pages
File Size : 44,5 Mb
Release : 2020-09-07
Category : Biography & Autobiography
ISBN : 9781633886292

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More Alike Than Different by David Egan Pdf

In this inspiring memoir, David Egan tells his own story, giving us a window into a life spent pushing boundaries. With a family undaunted by his diagnosis of Down syndrome, Egan learned early to speak up for himself. He has since become a powerful advocate for all people with disabilities. His optimistic perspective rejected the limits of stereotypes and the expectations of others. He shares how the support of loving family and friends led him to overcome challenges and blaze new trails. It started with swimming and baseball, when he earned places on his neighborhood teams, competing fiercely and as a fully accepted teammate. He writes firsthand of the empowering feeling of being fully included in elementary school and at work as an adult. Egan has earned positions at prestigious companies and a distinguished fellowship on Capitol Hill. He sits on the boards of influential advocacy organizations. He has addressed audiences worldwide and has played a powerful global advocacy role with Special Olympics. He allowed himself to dream big, and he encourages everyone to do the same. His lesson to all of us is to focus on our shared humanity despite our differences--and our diagnoses. This hopeful memoir will encourage everyone to make the most of their lives.