Hypospadias is recognised as one the most common congenital malformations in male newborns, resulting in an abnormal opening of urethral meatus. It is regarded as a multifactorial disorder in which interactions between genetics, maternal and environmental factors lead to hypoplastic development of the ventral side of the penis, either dependently or in an interaction with other factors. This book discusses the risk factors of hypospadias. It also examines the epidemiology and surgical outcomes of hypospadias.

Prader-Willi syndrome (PWS) is a rare, genetic, multisystemic disorder, characterised by short stature, muscular hypotonia, intellectual disability, behavioural and psychological problems and frequently hypogonadism and impaired growth hormone secretion. PWS arises due to loss of function of paternally-expressed, imprinted genes from chromosome region 15q11-q13. In new-borns and infants, the syndrome presents symptoms of muscular hypotonia and nutritional difficulties, which from the age of approximately two years is replaced by hyperphagia often leading to severe obesity. With increasing age the behavioural and psychological problems increase while the muscular hypotonia improves. During the last decades the knowledge of different aspects of PWS has increased and accordingly the treatment possibilities. However, no specific treatment exists and thus problems continue lifelong. Taking care of PWS patients is therefore a demanding task and necessitates a solid knowledge and understanding of the disorder as well as a multidisciplinary approach. This book will provide professionals taking care of patients with PWS with updated and comprehensive information and advise. The content is built up logically and it will be easy to navigate between the chapters, which cover all clinically relevant issues, genetics, signs and symptoms in children and adults, treatment, words from patients and parents, supporting organisations, and from a parent to a PWS patient.

The Understanding PAD chart presents an overall view of the symptoms and causes of Peripheral Artery Disease (PAD). A large graphic shows the vascular system with affected areas. Smaller views accompany the sections on stroke, thrombosis, atherosclerosis, along with blood clotting. Heavy cover stock with protective varnish for durability.

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.

'Congenital Heart Disease in the Right Heart' is an exhaustive review of the malformations of the right ventricle with particular emphasis on the ability of the ventricle to support circulation and the results of right heart malformations on circulation. Edited by the world's foremost authorities on the subject, the book benefits from an international team of contributors.

Fragile X syndrome is one of the main causes of child developmental delay and autism spectrum disorders. A premutated form of the same gene is also the basis for neurological disabilities in adults. This book breaks down the complex science of this genetic disorder and provides the facts and advice that every bewildered parent or professional needs to support individuals with Fragile X syndrome. This is a straightforward introduction that clearly explains the condition on both a scientific and practical level. With sections on diagnosis, symptoms and treatment, as well as discussions of various emotional and behavioural considerations, this guide covers all aspects of Fragile X syndrome, its implications, and the possibilities open to families affected by it. It demonstrates how, with the right therapies, progress can be made and emphasises how music can be used effectively to promote communication, interaction, fine motor skills and responsiveness in children with the condition. This is an essential reference tool for families of individuals with Fragile X syndrome, as well as therapists and healthcare professionals who are unfamiliar with the condition and are looking to find out more.

Every year, thousands of people die or suffer chronic disability as the result of inherited diseases of the cardiovascular system. In many cases, diagnosis of inherited disease is delayed or missed owing to a lack of awareness, and an even greater number of relatives are exposed to unnecessary risk. This new edition of Inherited Cardiac Disease provides a comprehensive summary of the aetiology, presentation, and management of genetic disorders of the cardiovascular system. Fully updated to reflect the advances in molecular genetic technologies and the publication of national guidelines for the management of families with inherited cardiac diseases, it retains the first edition's broad scope and applicability to all members of the multidisciplinary team, from specialists in cardiology and clinical genetics, to genetic counsellors, paediatricians, nurse specialists, and GPs who may come into contact with families presenting with inherited cardiac diseases. Containing both a short section on the general principles of cardiovascular genetics, individual disorders are then examined in detail, each featuring a clinical summary, diagnostic tests and special investigations, and treatments relevant to each inherited cardiac disease. Written in the succinct bullet-point style of the Oxford Specialist Handbooks, this new edition of Inherited Cardiac Disease delivers key information in an accessible manner, and is an invaluable guide to anyone who works with patients who are affected by inherited diseases of the cardiovascular system in their practice.

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.

Following on from the success of the international best-seller "Key Questions in Cardiac Surgery", the long-awaited KEY QUESTIONS IN CONGENITAL CARDIAC SURGERY will be the latest book in the Key Questions series to be released. Key Questions in Congenital Cardiac Surgery will systematically cover all the main topics involved in the current practice of a congenital cardiac surgeon. It will incorporate current guidelines for practice (such as from the American College of Cardiology, American Heart Association, British Paediatric Cardiac Association and European Society of Cardiology) and up-to-date information based on current literature. Each chapter will be structured to include the aetiology, pathophysiology, clinical features, indications for surgery, peri-operative management, surgical options and postoperative care. Possible complications will be discussed and the results of current practice presented. Importantly, there will be a section on basic sciences related to the practising congenital cardiac surgeon and a further section on congenital cardiac investigations with many images illustrating the variety of pathologies. Each chapter will also contain important references for further reading and greater depth of knowledge. The data and body of knowledge presented in this book is strictly evidence-based and is relevant to all congenital cardiac surgical trainees, at any stage of their training programme. It will provide residents, fellows and specialist registrars the necessary information to carry out their daily duties. Congenital cardiologists and paediatric cardiac intensive care unit specialists will also find the book useful in terms of the indications and surgical management of these patients, as they are integral to the congenital cardiac surgical process. Another important group is the nursing staff, physiotherapists and other professions allied to medicine working with patients with congenital cardiac disease either pre-operatively or postoperatively, as it will help to give a detailed understanding of the principles surrounding congenital cardiac surgical disease. Most importantly, the book is ideal as a revision aid for residents/registrars undertaking their Cardiothoracic Surgery Board examinations around the world. Although these examinations vary in format in different countries, this book is applicable to all cardiothoracic surgical trainees. Its concise, yet complete coverage of the important topics, make it the ideal guide to answer the key questions in congenital cardiac surgery that are asked within the confines of an examination.

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." "

Originally published as Preventative Management of Children with Congenital Anomalies and Syndromes, this new edition provides health professionals with an invaluable, structured approach to the preventive care of children with congenital disorders. Over 150 conditions ranging from cerebral palsy to Down syndrome are discussed. The large number of conditions covered and the added perspective of a developmental pediatrician (Dr Cooley) provides a valuable resource for carers and parents. For each disorder there is an introductory summary of key information, followed by more detailed listing of general pediatric and speciality concerns, all structured to provide an integrated approach to patient care. For 32 common disorders or disease categories, preventive management checklists are provided: these checklists provide an ongoing record for the child's medical complications and progress and they are designed to be copied and placed in the medical record. The text provides details of medical complications and preventive recommendations supported by key literature and web resources for parents and professionals.

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."

New discoveries reveal how crucial interactions which determine our destiny occur before birth, when our genes interact with their environment as the embryo and fetus develop. These processes - in the matrix of the womb - are evolutionary echoes of mechanisms which allowed our hunter-gatherer ancestors to survive. These exciting insights into predictive adaptive responses suggest new ways of protecting the health of the fetus, infant and adult. If inappropriate they can trigger obesity, diabetes and heart disease, formerly thought to result solely from adult lifestyle. The new concepts in this book are crucial to understanding the daunting public health burden in societies undergoing rapid transition from poverty to affluence. They add an important new dimension to evolutionary theory. Synthesising developmental biology, evolutionary history, medical science, public health and social policy, this is a ground-breaking and fascinating account by two of the world's leading pioneers in this important emerging field.

CHOSEN BY MAGGIE O'FARRELL IN THE GUARDIAN AS ONE OF HER BEST BOOKS OF THE YEAR 'It's a slice of a life . . . a complex, intelligent, beautiful, thoughtful, rather lyrical book' -Cathy Rentzenbrink, author of The Last Act of Love 'A moving treatise on inheritance, not just of a disease like cystic fibrosis, but of our attitudes to living and loving, our sense of cultural and familial landscape, and how these intangibles pass down through generations. Stevenson picks apart her life like a strand of DNA to uncover just how we become the sum of our parts' Daily Telegraph 'A beautiful memoir . . . [Stevenson] is a novelist and a translator and her memoir is about translation in the larger sense. Translating the world is what we all do but she reminds us that one can hope - with a mind as intricately well read and original as hers - to translate misfortune; to absorb and see beyond it . . . Stevenson makes of poetry, fiction and philosophy a protective shawl for her story . . . Although intense she has a carefree wit' Kate Kellaway, Observer 'Motherhood, medicine and music are explored with a spellbinding intensity. It is a beautifully written and entirely honest memoir... Stevenson acknowledges the pain and overwhelming melancholy of being the mother of a sick child but she also manages to wholeheartedly celebrate the life of her family, who are still determined to live as luminous a life as possible, to make a kind of poetry out of the everyday' Eithne Farry Sunday Express 'Stevenson is a writer and musician, and her memoir is distinguished by its ravishing prose and sensitive understanding of the role that loss, misfortune and grief play in the story of our lives' Jane Shilling, Daily Mail 'Love Like Salt is a human triumph ... it's all told in the most mesmerising of words, no adjective is extraneous and Love Like Salt flows with poetic precision ... Ultimately, Love Like Salt follows in the hallowed footsteps of Helen MacDonald's brilliant H is for Hawk or Cathy Rentzenbrink's The Last Act of Love. These are not misery memoirs but reminders that life comes in all shades - that in the darkest moments, beauty and humour can be found' Francesca Brown, Stylist 'Did Clara taste salty when I kissed her? She did. She tasted of mermaids, of the sea.' Love Like Salt is a deeply affecting memoir, beautifully and intelligently written. It is about mothers and daughters, music and illness, genes and inheritance, writing and story-telling. It is about creating joy from the hand you've been dealt and following its lead - in this case to rural France, where the author and her family lived for seven years. And back again. 'I had always written, and until the birth of Clara I wrote for a living. Once I knew the Cystic Fibrosis gene had unfolded itself in our daughter's body, like a paper flower meeting water, I felt that to write, even if I had had time, or been able, would have been to squander a kind of power which was needed for tending and nurturing. Every moment became a moment in which I protected my baby. Some of it I did in secret, like a madwoman muttering spells. I thought of her as a candle, cupping my hand around her. A beautifully written memoir, in the vein of H is for Hawk and The Last Act of Love, about motherhood, music and living the best life you can, even in the shadow of illness.

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.