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.

This volume contains the text of the presentations delivered at the International Symposium on Rare Diseases "Inherited Neuromuscular Diseases: Translation from Pathomechanisms to Therapies," held in Valencia, Spain, from November 16 to 18, 2008. The symposium represents a part of the continuous efforts on dif- sion of science to the society of the Catedra Santiago Grisolia and the Fundacion Ciudad de las Artes y las Ciencias -Comunitat Valenciana. More than 200 inter- tional scientists from different countries of Europe, the USA, and Australia attended the meeting. The venue was the Auditorium of the Science Museum Principe Felipe. Ten years ago Alan Emery wrote in the preface of Neuromuscular Disorders: Clinical and Molecular Genetics the following comments: "It has been estimated that more than one person in every 3,000 has a serious disabling inherited n- romuscular disorder. The suffering caused by these disorders is considerable, but, until the last decade or so, virtually nothing was known of their pathogenesis. Any rationale approach to treatment was therefore out of the question. However, matters are now changing rapidly. The genes for many of these disorders have been localised and characterised and their gene products identi ed and studied. The detection of preclinical disease, the identi cation of heterozygous carriers and prenatal di- nosis are all becoming possible, and, hopefully, effective treatments may no be too far distant."

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

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.

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

The hereditary retinopathy, retinitis pigmentosa (RP), which affects 1 in 3,500 people worldwide, is the most common cause of registered visual handicap among those of the working age in developed countries. RP is a highly variable disorder where patients may develop symptomatic visual loss in early childhood, while others may remain asymptomatic until mid-adulthood. Most cases of RP segregate in autosomal dominant, recessive or X-linked recessive modes, with approximately 41 genes being implicated in disease pathology to date (RetNet). The extensive genetic heterogeneity associated with autosomal dominant RP (adRP) is an undisputed hindrance to the development of genetically based therapeutics.

This book contains the contributions to the 30th Hemophilia Symposium, 1999. The main topics are HIV infection, inhibitors in hemophilia, modern treatment of hemophilia, drug-induced thrombophilia and pediatric hemostasiology. The volume is rounded off by numerous free papers and posters on hemophilia and associated topics.

The untold story of how hereditary data in mental hospitals gave rise to the science of human heredity In the early 1800s, a century before there was any concept of the gene, physicians in insane asylums began to record causes of madness in their admission books. Almost from the beginning, they pointed to heredity as the most important of these causes. Genetics in the Madhouse is the untold story of how the collection of hereditary data in asylums and prisons gave rise to a new science of human heredity. Theodore Porter looks at the institutional use of innovative quantitative practices-such as pedigree charts and censuses of mental illness-that were worked out in the madhouse long before the manipulation of DNA became possible in the lab. Genetics in the Madhouse brings to light the hidden history behind modern genetics and deepens our appreciation of the moral issues at stake in data work conducted at the border of subjectivity and science.

The untold story of how hereditary data in mental hospitals gave rise to the science of human heredity In the early 1800s, a century before there was any concept of the gene, physicians in insane asylums began to record causes of madness in their admission books. Almost from the beginning, they pointed to heredity as the most important of these causes. As doctors and state officials steadily lost faith in the capacity of asylum care to stem the terrible increase of insanity, they began emphasizing the need to curb the reproduction of the insane. They became obsessed with identifying weak or tainted families and anticipating the outcomes of their marriages. Genetics in the Madhouse is the untold story of how the collection and sorting of hereditary data in mental hospitals, schools for "feebleminded" children, and prisons gave rise to a new science of human heredity. In this compelling book, Theodore Porter draws on untapped archival evidence from across Europe and North America to bring to light the hidden history behind modern genetics. He looks at the institutional use of pedigree charts, censuses of mental illness, medical-social surveys, and other data techniques--innovative quantitative practices that were worked out in the madhouse long before the manipulation of DNA became possible in the lab. Porter argues that asylum doctors developed many of the ideologies and methods of what would come to be known as eugenics, and deepens our appreciation of the moral issues at stake in data work conducted on the border of subjectivity and science. A bold rethinking of asylum work, Genetics in the Madhouse shows how heredity was a human science as well as a medical and biological one.

Thoene summarises the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. This handbook will enable interested clinician scientists to rapidly survey the field, thus ascertaining what has been done as well as future directions for therapeutic research. Its important introductory chapters discuss the infrastructure of the field. The book closely analyses the cofactors used to augment the function of defective enzymes and the compounds that are able to utilise an alternative pathway in order to avoid the consequences of the metabolic block present in the patient. Among other therapies, the authors discuss the use of zinc and tetrathiomolybdate to treat Wilson's disease and the use of cysteamine to treat nephropathic cystinosis.

The onset of cancer presents one of the most fundamental problems in modern biology. In "Dynamics of Cancer," Steven Frank produces the first comprehensive analysis of how particular genetic and environmental causes influence the age of onset.

The book provides a unique conceptual and historical framework for understanding the causes of cancer and other diseases that increase with age. Using a novel quantitative framework of reliability and multistage breakdown, Frank unifies molecular, demographic, and evolutionary levels of analysis. He interprets a wide variety of observations on the age of cancer onset, the genetic and environmental causes of disease, and the organization of tissues with regard to stem cell biology and somatic mutation. Frank uses new quantitative methods to tackle some of the classic problems in cancer biology and aging: how the rate of increase in the incidence of lung cancer declines after individuals quit smoking, the distinction between the dosage of a chemical carcinogen and the time of exposure, and the role of inherited genetic variation in familial patterns of cancer.

This is the only book that presents a full analysis of the age of cancer onset. It is a superb teaching tool and a rich source of ideas for new and experienced researchers. For cancer biologists, population geneticists, evolutionary biologists, and demographers interested in aging, this book provides new insight into disease progression, the inheritance of predisposition to disease, and the evolutionary processes that have shaped organismal design.

The purpose of this book is to fill the gap in a largely neglected fundamental branch of biology and medicine that is now becoming a hot topic. Although interest in the excellent protective power of hereditary immunity was sporadically characteristic of the history of immunology, its investigation has been out of the main stream of the science. Its origin and the mode of action have been beyond comprehension and exploitation. The agnostic attitude began to change very dramatically only at the edge of XXl Century. Until now, there has been no review book on the entire topic of hereditary immunity published in English. This is the first in-depth analysis of hereditary immunity both in the investigation of life and in health care.

Fragile X syndrome (FXS), is the most common cause of inherited mental impairment. This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities (sometimes referred to as mental retardation). FXS is the most common known cause of autism or 'autistic-like' behaviour. Symptoms also can include characteristic physical and behavioural features and delays in speech and language development. This new book presents the latest research in this field.

Praxisnahe Anleitung zur optimalen Beratung und Betreuung von Kinderwunschpaaren, dafur steht das in dieser 3. Auflage erweiterte Autorenteam aus ausgewiesenen Spezialisten. Durchgehend aktualisiert fuhrt das Buch seine Leser durch alle relevanten Themen und alles Wissenswerte zur Kinderwunschsprechstunde: - Grundlagen zu Physiologie und Familienplanung - Darstellung verschiedener Gegebenheiten in Fallbeispielen - Konkrete Praxistipps zu Beratung, Diagnostik und Therapie - Herangehensweise an unterschiedliche Ausgangssituationen Neue Kapitel erganzen die bewahrte Zusammenstellung der Inhalte: - Fertilitatsprophylaxe bei malignen Erkrankungen - Rechtliche Aspekte der Kinderwunschbehandlung

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.

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.

Antibiotika-resistente Bakterien und fehlende Antibiotika gefahrden zunehmend die erfolgreiche Behandlung von bakteriellen Infektionskrankheiten. Diese Stellungnahme beschreibt den unbefriedigenden Status Quo in der Entwicklung neuer Antibiotika und gibt auf breiter Basis Empfehlungen fur Loesungsansatze in Forschung, Politik und Gesellschaft.

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.

Il dolore cronico vulvare, o vulvodinia, e una patologia diffusa che puo avere un forte impatto sul benessere della donna. Nonostante sia frequentemente osservata nella pratica clinica quotidiana, resta un disturbo trascurato e puo richiedere anche molti anni per essere correttamente

diagnosticato. Il volume offre un panorama conciso delle ultimissime acquisizioni sulla diagnosi e la cura della vulvodinia e delle sue numerose comorbilita, ha un formato facile da leggere, con molti consigli pratici, e aiuta ad affrontare rapidamente ed efficacemente tutte le complesse e delicate problematiche

che sottendono il disturbo. Questo libro si rivolge ai medici motivati a migliorare la qualita di vita delle donne che soffrono di vulvodinia, e in particolare ai Ginecologi e ai Medici di Medicina Generale.

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." "

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.