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Books > Medicine > Clinical & internal medicine > Diseases & disorders > Congenital diseases & disorders > Hereditary diseases & disorders
The page-turning, never-before-told story of Kim Campbell's roller-coaster thirty-four-year marriage to music legend Glen Campbell, including how Kim helped Glen finally conquer his addictions only to face their greatest challenge when he was diagnosed with Alzheimer's disease. Kim Campbell was a fresh-faced twenty-two-year-old dancer at Radio City Music Hall when a friend introduced her to Glen Campbell, the chart-topping, Grammy-winning, Oscar-nominated entertainer. The two performers from small Southern towns quickly fell in love, a bond that produced a thirty-four-year marriage and three children. In Gentle on My Mind, Kim tells the complete, no-holds-barred story of their relationship, recounting the highest of highs-award shows, acclaimed performances, the birth of their children, encounters with Mick Fleetwood, Waylon Jennings, Alan Jackson, Alice Cooper, Jane Seymour, and others-and the lowest of lows, including battles with alcohol and drug addiction and, finally, Glen's diagnosis, decline, and death from Alzheimer's. With extraordinary candor, astonishing bravery, and a lively sense of humor, Kim reveals the whole truth of life with an entertainment giant and of caring for and loving him amid the extraordinary challenge of Alzheimer's disease. This is a remarkable account of enduring love, quiet strength, and never-faltering faith.
'A big-picture forecast of how medicine stands on the threshold of a revolution that will radically change all of our lives' The Times Welcome to a revolution in the science of you! This landmark new book from award-winning scientist Daniel M. Davis explores the future of the human body. Imagine taking drugs to help you acquire new skills, or knowing years in advance the precise likelihood of developing specific cancers, or following a diet and health regime tailored to your microbiome, or even having continuous monitoring of your body's workings and well-being. Written by an award-winning scientist, this landmark book shows how these radical and disconcerting possibilities have been made real. It is at once a gripping drama of scientific ingenuity, discovery and collaboration, and a vision of the human body of dizzying complexity and wonder. 'The startling new discoveries...are radically altering our understanding of how we function and what our future holds' BRIAN COX 'Thrilling' BILL BRYSON 'Brilliant' TIM SPECTOR 'Extraordinary' ALICE ROBERTS
Cystic Fibrosis: The Facts provides a much needed simple and
understandable source book about this disease. It is aimed at those
living with Cystic Fibrosis (CF), either themselves or members of
their families or their friends.
The term Spondylarthitides refers to a group of common rheumatic
disorders affecting the spine and peripheral joints. The
distribution of this disease is world-wide, with both men and women
affected (the average age of onset being below 30 years). These
also serve as a model system for understanding the interaction
between disease-inducing micro-organisms, and
genetically-susceptible host, since both of these components are
particularly well defined in the spondylarthopathies. They are
therefore of great interest from the point of veiw of understanding
the pathogenesis of inflammatory and autoimune diseases, such as
arthritis, inflammatory bowel disease, and insulin dependent
diabetes mellitus, all of which involve an interplay of microbial
and genetic factors. The Spondylarthritides provides up to date, in
depth reviews of the current state of knowledge of the genetic,
epidemiologic, microbiologic, and immunologic aspects of these
disorders.
Die arterio-venosen Anastomosen, welche als nichtkapillare, unmittelbare Verbindungen zwischen der arteriellen Hochdruck-und der venosen Niederdruck- leitung unter den Sondereinrichtungen in der peripheren Strombahn zweifellos eine besonders bedeutsame Rolle spielen, sind bis zu dem Erscheinen der ersten Auflage vorliegender Monographie (Verlag J. A. Barth, Leipzig, 1939) vorzugsweise Gegenstand anatomischer Untersuchungen gewesen, haben aber seitdem auch von physiologischer, pathologischer und klinischer Seite eine zunehmende Beachtung gefunden, wie die zahlreichen Aussagen uber Vorkommen und Funktion dieser derivatorischen GefaBabschnitte zeigen. Die in dem letzten J ahrzehnt gelungene Aufdeckung von neuen Fundorten und von verschiedenen Bauformen der arterio-venosen Anastomosen sowie die Beobachtung, daB an den Orten ihres regelmaBigen Vorkommens vielfach GefaB- organe ausgebildet sind, die zwar aIle histologischen Merkmale epitheloidzelliger Nebenschlusse besitzen, aber keine unmittelbaren Verbindungen zwischen Arterien und Venen, sondern organartig gebaute prakapillare Strecken der arteriellen Strombahn sind, haben eine weitgehende NeuGBPassung der Darstellung notwendig gemacht. Unsere Kenntnisse von der funktionellen Bedeutung der arterio-venosen Anastomosen stecken ungeachtet aller Bemuhungen noch immer sozusagen in den Kinderschuhen; hat die Auffassung, daB aIle derartigen GefaBverbindungen durch die gleichen Baueigentiimlichkeiten gekennzeichnet sind, aufgegeben werden mussen, so stellt sich damit andererseits die Frage nach der funktionellen Rolle der verschiedenen Bauformen, welche bis heute keineswegs befriedigend beantwOl"tet werden kann.
This book brings together many of the main conclusions of the European Concerted Action Programme on Genetic Hearing Impairment (HEAR). It is spilt into four sections, covering definitions, protocols, genotype/phenotype relationships and important websites.The section on definitions enables all those approaching the problems of Genetic Hearing Impairment from different backgrounds to communicate in the same language and understand what each is doing more clearly. The definitions are of Audiological, Vestibulogical, Epidemiological and Genetic terms, together with specific terms associated with particular craniofacial abnormalities. The second section comprises protocols for the minimal set investigation of patients and their family members with genetic hearing impairment. Relatively little work has been done in the past on the balance of disorders which may be associated with Genetic Hearing Impairment and a protocol aiming to elucidate some of these factors in a relevant way has been defined. The final chapter in this section deals with how audiologists should relate to genetic laboratories in an attempt to reduce the confusion which has risen in this field in the past. The third section is concerned with the relationship between genotypes and phenotypes in non-syndromal hearing impairment in the conditions in which the genes have so far been localised and in many cases identified. The final section deals with the important websites within this field. The most important and the most visited is the Hereditary Hearing Loss website based on Antwerp and managed by Guy Van Camp and Richard Smith.
Jahrlich werden in Deutschland ca. 1.000 kunstliche Befruchtungen durchgefuhrt (sog. heterologe kunstliche Befruchtung). Insbesondere der Samenspender, aber auch alle anderen beteiligten Personen gehen dabei ein rechtliches Risiko ein - haufig ohne es zu wissen. Die Autorin entwickelt Moglichkeiten der zivilrechtlichen Haftungsfreistellung des Samenspenders und stellt ihre Alternative vor: die "rechtsfolgenlose Vaterschaftsfeststellungsklage." "
This text contains a collection of papers presented at the 6th World Congress on Down's Syndrome, held in Madrid in October 1997. The papers focus on the scientific advances and therapeutic practices that make it possible for people with Down's syndrome to enjoy good health, to be recognized socially, to go to mainstream school, to have a job, to integrate in their community and to enjoy a better quality of life. The papers aim to reflect the dynamism of the Down's syndrome community at national and international levels, and the questions and solutions envisaged in many parts of the world. They also highlight the challenges for future concern. The most important and urgent challenges discussed are: increased recognition of the syndromic specificity of Down's syndrome; better knowledge of the genetic mechanisms inducing Down's syndrome and of the individual variation at the genetic and epigenetic level (particularly brain development); more precise characterization of psychological, educational and social development in Down's syndrome individuals; continued improvement of medical care for the whole life cycle of Down's syndrome individuals; better and specialized school techniques and approaches for tracking literacy and computational skills in Down's syndrome children and adolescents; more effective ways of integrating Down syndrome individuals into society and making them feel and be fully-fledged members of our social structures; and adequate medical, psychological, and social care of ageing Down's syndrome persons
Cosa si prova a non poter avere un figlio? Quanto e difficile comunicare alla coppia una diagnosi di sterilita? Come affrontare il 70% dei fallimenti delle tecniche di PMA? Come una legge puo' incidere sul futuro di un embrione? Il testo, nato dalla fusione multidisciplinare medica, psicologica e sociologica, vuole riflettere su queste domande e accompagnare il lettore in una nuova forma mentis sulle criticita nella fecondazione assistita. La trama scientifica si accompagna a un linguaggio diretto dove hanno un posto rilevante le emozioni, cosi' centrali in campi quali la ginecologia, la riproduzione e la psicologia dell'infertilita, che vanno al cuore del bisogno psico-sessuale piu forte e arcaico: quello riproduttivo. Al centro del volume e la relazione medico-paziente che, nel campo dell'infertilita, e caratterizzata dall'attivazione di forti echi emotivi da parte di entrambi. Il volume, a tale riguardo, propone il protocollo SAHARAI che comprende due metodi inediti (il questionario e il nurse-ring) capaci di intervenire, rispettivamente, nella fase diagnostica e in quella terapeutica della fecondazione. I metodi e le riflessioni proposti sono volti alla riduzione dei disagi psicologici delle coppie e al riequilibrio del rapporto medico-paziente. Dal testo emerge forte una nuova idea di formazione per gli operatori dei centri di fecondazione assistita e un percorso di qualificazione per le nuove figure professionali (gli psicologi addetti alla PMA) in accordo con le nuove direttive della legge."
Die moderne Reproduktionsmedizin wird oftmals als letzte Chance von Partnern ausgewahlt, um ihren starken, bisher unerfullten Wunsch nach einem eigenen Kind einzuloesen - ungeachtet dessen, dass sie oeffentlich sehr kontrovers diskutiert werden und haufig auf grosse Ablehnung stossen. Die Teilnahme an einer Reproduktionsbehandlung ist kostenintensiv: Zusatzlich zu den finanziellen Kosten der medizinischen Behandlung kommen noch weitere subjektive Kosten hinzu, so z.B. ein erheblicher Zeitaufwand wahrend der Fertilisierungstherapien oder aber auch das Ertragen koerperlicher und psychischer Belastungen. Die vorliegende Arbeit erforscht die Einstellung der Betroffenen zur Reproduktionsmedizin und was sie mit einem Kind verbinden. Daruber hinaus wird erforscht, wie die ungewollt kinderlosen Partner die koerperlichen, psychischen und finanziellen Belastungen erleben und bewerten.
Die medizinische Behandlung der ungewollten Kinderlosigkeit wird hierzulande nach wie vor mit einer Mischung aus Interesse am medizinisch-technischen Fortschritt und Sorge uber die mogli- cherweise nicht mehr kalkulierbaren Risiken dieses Fortschrittes betrachtet. Die Reaktionen reichen dabei von der implizi ten Gleichsetzung konkreter Formen der Reproduktionsmedizin mit den fiktiven Verhaltnissen in der 'Schonen Neuen welt'1, bis hin zu Einschatzungen, wonach sich die Reproduktionsmedizin in naher Zukunft als ein unverzichtbares Instrument bei der Bekampfung eines langandauernden Bevolkerungsruckganges in der BRD erweisen 2 werde. Auch wenn sich in den letzten 5-10 Jahren das Interesse der Offentlichkeit verstarkt den verschiedenen Formen der medizini- 3 schen Behandlung ungewollter Kinderlosigkeit zugewandt hat, so scheint mit diesem verstarkten Interesse kein Anstieg der Anzahl Der Vergleich des heutigen Potentials der Reproduk- tionsmedizin mit den Schilderungen der industriellen Erzeugung von Menschen in A. Huxleys Roman "Schone Neue Welt" gehort zu den Standardbildern in weiten Teilen der Literatur uber die medizinische Behandlung der ungewollten Kinderlosigkeit. So z.B. auch bei: Hirsch, G. und Eberbach W. (1987): Auf dem Weg zum kunstlichen Leben - Retortenkinder, Leihmutter, pro- grammierte Gene Basel, Boston, Stuttgart. S.31ff. 2 So ein Reproduktionsmediziner in der Fernsehsendung 'Explosiv' (RTL 22.5.'91). 3 Man denke z. B. nur an die Kontroversen im Zuge der Erarbeitung des Embryonenschutzgesetzes, an die Richt- linien zur Durchfuhrung der In-vitro-Fertilisation der Bundesarztekammer, an die Initiativen auf dem 56.
International uproar followed the recent announcement of the birth of twin girls whose genomes had been edited with a breakthrough DNA editing-technology. This technology, called clustered regularly interspaced short palindrome repeats or CRISPR-Cas9, can alter any DNA, including DNA in embryos, meaning that changes can be passed to the offspring of the person that embryo becomes. Should we use gene editing technologies to change ourselves, our children, and future generations to come? The potential uses of CRISPR-Cas9 and other gene editing technologies are unprecedented in human history. By using these technologies, we eradicate certain dreadful diseases. Altering human DNA, however, raises enormously difficult questions. Some of these questions are about safety: Can these technologies be deployed without posing an unreasonable risk of physical harm to current and future generations? Can all physical risks be adequately assessed, and responsibly managed? But gene editing technologies also raise other moral questions, which touch on deeply held, personal, cultural, and societal values: Might such technologies redefine what it means to be healthy, or normal, or cherished? Might they undermine relationships between parents and children, or exacerbate the gap between the haves and have-nots? The broadest form of this second kind of question is the focus of this book: What might gene editing-and related technologies-mean for human flourishing? In the new essays collected here, an interdisciplinary group of scholars asks age-old questions about the nature and well-being of humans in the context of a revolutionary new biotechnology-one that has the potential to change the genetic make-up of both existing people and future generations. Welcoming readers who study related issues and those not yet familiar with the formal study of bioethics, the authors of these essays open up a conversation about the ethics of gene editing. It is through this conversation that citizens can influence laws and the distribution of funding for science and medicine, that professional leaders can shape understanding and use of gene editing and related technologies by scientists, patients, and practitioners, and that individuals can make decisions about their own lives and the lives of their families.
"Adopted at Cambridge University" Essential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics. It also provides guidance on how to apply current knowledge in clinical contexts, covering a wide variety of topics: from genome structure and function to mutations, screening and risk assessment for inherited disorders. This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques. In full colour throughout, it includes a number of brand new features, including: a large number of self-assessment questions; 'Essentials' chapter summaries; further reading suggestions; and case study scenarios introducing clinical situations. An invaluable new section gives illustrated practical advice regarding how to choose the best available online genetic databases and also, importantly, how to most easily and most efficiently use them, for a wide range of purposes. "Essential Medical Genetics" is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book). The companion website at www.wiley.com/go/tobias features figures from the book in PowerPoint format and a link to the authors' website with regularly updated links to genetic databases and additional self-test questions.
In einem alteren Anatomiebuche-findet sich iiber die Bauchspeichel- driise nichts als die Angabe: "Die Bauchspeicheldriise ist ein Organ, das sehr schwer zu finden ist und deshalb kein Interesse fiir uns hat. " Bis vor wenigen J ahren ging es der Physiologie des Wachstums nicht anders wie in obigem Zitat der Bauchspeicheldriise, widmet doch selbst das neueste vierbandige Handbuch der Physiologie von Nagel nicht den kleinsten Abschnitt eines Kapitels der Physiologie des Wachstums und in der Mehrzahl der physiologischen Vorlesungen an den Universi- taten findet die Grundfunktion alles Lebendigen, das Wachstum, wenn iiberhaupt, dann nur eine ganz fliichtige Erwahnung. In den letzten J ahren sind von verschiedenen Seiten und von verschiedenen Gesichts- punkten aus Wachstumsfragen experimentell und theoretisch in Angriff genommen worden, und die Zahl der Arbeiten iiber Wachstum ist be- reits derart groB und ihre Ergebnisse in so verschiedenen, oft schwer zuganglichen Zeitschriften niedergelegt, wie das Literaturverzeichnis be- weist, das es dem Verfasser angezeigt erechien, eine Physiologie des Wachstums mit besonderer Beriicksichtigung des Menschenwachstums einem weiteren Leserkreise zuganglich zu machen. Durch zahlreiche A bbildungen und Textvermehrung unterscheidet sich die vorliegende Monographie von der Arbeit des Verfassers iiber Wachstum, die in den Ergebnissen der inneren Medizin und Kinderheilkunde in Band VIII, Band IX und Band XI veroffentlicht worden war. Der Literaturnach- weis wurde dank der Zusammenstellung von Prof. Hans Aron in seiner Biochemie des Wachstums sehr erheblich vergroBert in bezug auf bio- chemische Arbeiten iiber Wachstum, wahrend zoologische Literatur den Arbeiten von pzibram entnommen werden konnte.
Clinicians and scientists are increasingly recognising the importance of an evolutionary perspective in studying the aetiology, prevention, and treatment of human disease; the growing prominence of genetics in medicine is further adding to the interest in evolutionary medicine. In spite of this, too few medical students or residents study evolution. This book builds a compelling case for integrating evolutionary biology into undergraduate and postgraduate medical education, as well as its intrinsic value to medicine. Chapter by chapter, the authors - experts in anthropology, biology, ecology, physiology, public health, and various disciplines of medicine - present the rationale for clinically-relevant evolutionary thinking. They achieve this within the broader context of medicine but through the focused lens of maternal and child health, with an emphasis on female reproduction and the early-life biochemical, immunological, and microbial responses influenced by evolution. The tightly woven and accessible narrative illustrates how a medical education that considers evolved traits can deepen our understanding of the complexities of the human body, variability in health, susceptibility to disease, and ultimately help guide treatment, prevention, and public health policy. However, integrating evolutionary biology into medical education continues to face several roadblocks. The medical curriculum is already replete with complex subjects and a long period of training. The addition of an evolutionary perspective to this curriculum would certainly seem daunting, and many medical educators express concern over potential controversy if evolution is introduced into the curriculum of their schools. Medical education urgently needs strategies and teaching aids to lower the barriers to incorporating evolution into medical training. In summary, this call to arms makes a strong case for incorporating evolutionary thinking early in medical training to help guide the types of critical questions physicians ask, or should be asking. It will be of relevance and use to evolutionary biologists, physicians, medical students, and biomedical research scientists.
Frank Nawroth thematisiert das Social Freezing und die zugehoerige Beratung, die nicht nur Chancen, sondern auch denkbare Komplikationen und Grenzen der Methode aufzeigen muss. Zum Beispiel haben die gesellschaftspolitisch nicht optimal geloeste Problematik des moeglichen Karriere-Nachteils einer berufstatigen Mutter oder die haufig bestehende Schwierigkeit, den geeigneten Partner zu finden, bei gleichzeitig verbesserten Kryokonservierungsmethoden dazu gefuhrt, dass Frauen ohne medizinische Indikation uber das Einfrieren ihrer Eizellen nachdenken. Die Technologie selbst ist seit Langerem Routine vor fertilitatsbeeintrachtigenden Therapien onkologischer Erkrankungen (Operation, Strahlen- und/oder Chemotherapie) im reproduktiven Alter. |
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