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Books > Medicine > Pre-clinical medicine: basic sciences > Human reproduction, growth & development
This volume comprehensively focuses on polycystic ovary, metabolic syndrome and obesity and their impact on women's health, reproduction and quality of life from adolescence to old age. PCOS is analyzed form the early origins - highlighting the importance of diagnosis, management and treatment starting from the high-risk period of adolescence - throughout infertility PCOS-related issues, pregnancy and menopause transition. All aspects of this syndrome are covered also in relation with endocrine and metabolic features that affects women's health. This book is a very useful tool for gynecologists, endocrinologists, obstetricians, reproductive medicine and general practitioners and is an important resource for all physicians involved in women's health.
In recent years, remarkable discoveries have been made concerning the underlying mechanisms of aging. In Life-Span Extension: Single-Cell Organisms to Man, the editors bring together a range of illuminating perspectives from researchers investigating the aging process in a variety of species. This novel work addresses the aging process in species ranging from yeast to man and, among other subjects, features detailed discussions of the naked mole-rat, an exceptionally long-lived rodent; the relationship between dietary factors/food restriction and aging; and an evolutionary view of the human aging process. Single mutations that extend life span have been identified in yeast, worms, flies, and mice, whereas studies in humans have identified potentially important markers for successful aging. At the same time, it has been discovered that the genes and pathways identified in these studies involve a surprisingly small set of conserved functions, most of which have been the focus of aging research for some time. For example, the mTOR pathway, a regulator of translation and protein synthesis, has been identified as a common longevity pathway in yeast and Caenorhabditis elegans. In mammals, this pathway intersects with neuroendocrine pathways and with the insulin/insulin-like growth factor pathways, which have been identified as major modulators of life span and aging in both invertebrates and mice. Novel, emerging technologies and the increasingly wide variety of systems that are now used to study aging and the mechanisms of aging provide enormous opportunities for the identification of common pathways that modulate longevity. It is these common pathways that are the focus of this important volume.
Diverse Pathways to Parenthood: From Narratives to Practice is a timely contribution to the study of reproduction and parenthood. Drawing on a wide breadth of projects, this book covers topics such as first time parents, donor conception, pregnancy loss, surrogacy, lesbian, gay and/or transgender parenting, fostering and adoption, grandparenting, and human/animal kinship. By presenting individual narratives focused on reproduction and parenthood, this book successfully translates empirical research into practical, applied outcomes that will be of use for all those working in the fields of reproduction and parenthood. Including recommendations for fertility specialists, educators, child protection agencies, reproductive counselors, and policy makers, Diverse Pathways to Parenthood: From Narratives to Practice is a vital new resource that will help guide practice into the future. As a contribution to the field of critical kinship studies, this book heralds new directions for the study of kinship, by revisiting as well as reimagining how we think about, research, and respond to a diversity of kinship forms.
Sex matters! Are there differences between the sexes when it comes to brain function and the behaviours that result? This volume attempts to answer this fundamental question. If the answer is 'yes' then this should impact upon our approach to treating mental illness in humans, and to modelling it in animals, as we look for aetiological and pharmacological solutions.
Known for a tradition of Confucian filial piety, East Asian societies have some of the oldest and most rapidly aging populations on earth. Today these societies are experiencing unprecedented social challenges to the filial tradition of adult children caring for aging parents at home. Marshalling mixed methods data, this volume explores the complexities of aging and caregiving in contemporary East Asia. Questioning romantic visions of a senior's paradise, chapters examine emerging cultural meanings of and social responses to population aging, including caregiving both for and by the elderly. Themes include traditional ideals versus contemporary realities, the role of the state, patterns of familial and non-familial care, social stratification, and intersections of caregiving and death. Drawing on ethnographic, demographic, policy, archival, and media data, the authors trace both common patterns and diverging trends across China, Hong Kong, Taiwan, Singapore, Japan, and Korea.
This book discusses the role of oxidative stress in human reproduction with a focus on men's health. The physiological roles of reactive oxygen species (ROS) in male fertility are the focus in this book. This topic is important because oxidative stress is a result of the imbalance between ROS and antioxidants in the body which may lead to sperm damage (DNA or count), deformity, and eventually, male infertility. Therefore, for a better understanding of the molecular mechanisms related to male genotoxicity and its regulation in infertility, this book provides an up-to-date view on the impact of oxidative stress factors in male reproduction . The main aim of this book is to collect a series of research articles and reviews from a diverse group of scientists to share their research work on the role of ROS or oxidative stress in physiological and pathological states in relation to (in)fertility in the male. This book presents various state-of-the-art chapters of the recent progress in the field of cellular toxicology and clinical manifestations of various issues related to men's health and fertility. Topics include cell signaling, DNA damage and infertility, the pathophysiology of disease instigation and distribution, immune toxicity and prevention.
Congenital malformations are worldwide occurrences striking in every condition of society. These severe physical abnormalities which are present at birth and affecting every part of the body happen more often than usually realized, once in every 33 births. The most common, after heart defects, are those of the neural tube (the brain and spinal cord) which happen in as many as one in every 350 births. They have been noted as curiousities in man and beast throughout recorded history and received great attention in our time by various fields of study, for example, their faulty prenatal development by embryologists, familial patterns by geneticists, causation by environmentalists and variability by population scientists. Attention turned much in recent years to the relation of these malformations to deficiency of a particular dietary ingredient, folic acid, a subject this book analyzes in depth. The greatest conundrum of all, which this latest matter like so much else hinges on, is the amazing fact of the tremendous, almost universal decrease in the frequency of these anomalies since early in the 20th century. The puzzle is 'What can this downward trend possibly mean?' and at bottom 'Whether it is part of a long-term cyclical pattern'. This fascinating biological phenomenon is explored in the book together with various other topics.
This second edition offers an expanded and updated history of the field of fetal and neonatal development, allowing readers to gain a comprehensive understanding of the biological aspects that contribute to the wellbeing or pathophysiology of newborns. In this concluding opus of a long and prominent career as a clinical scientist, Dr. Longo has invited new contributions from noted colleagues with expertise in various fields to provide a historical perspective on the impact of how modern concepts emerged in the field of fetal physiology and contributed to the current attention paid to the fetal origins of diseases in adults. In addition to new chapters on maternal physiology and complications during pregnancy, others trace the history of the Society for Reproductive Investigation, governmental funding of perinatal research, and major initiatives to support training in the new discipline of maternal fetal medicine, including the Reproductive Scientist Development program. The extensive survey provided by the author, who personally knew most of the pioneers in the field, offers a unique guide for all clinical and basic scientists interested in the history of - and future approaches to diagnosing and treating - pathologies that represent the leading causes of neonatal mortality and, far too often, life-long morbidity.
Reproductive donation is the most contentious area of assisted reproduction. Even within Europe there are wide variations in what is permitted in each country. This multi-disciplinary book takes a fresh look at the practices of egg, sperm and embryo donation and surrogacy, bringing together ethical analysis and empirical research. New evidence is offered on aspects of assisted reproduction and the families these create, including non-traditional types. One of the key issues addressed is should children be told of their donor origin? If they do learn the identity of their donor, what kinds of relationships may be forged between families, the donor and other donor sibling families? Should donation involve a gift relationship? Is intra-familial donation too close for comfort? How should we understand the growing trend for 'reproductive tourism'? This lively and informed discussion offers new insights into reproductive donation and the resulting donor families.
This book is the first to bring together an interdisciplinary collection of essays on surrogacy and egg donation from three socially, legally and culturally distinct countries - India, Israel and Germany. It presents contributions from experts in the field of social and cultural sciences, bioethics, law as well as psychology and provides critical-reflective comparative analysis of the socio-ethical factors shaping surrogacy and egg donation practices across these three countries. This book highlights the importance of a comparative perspective to 'make sense' of controversies and transitions in this highly contested area of artificial reproductive technologies. It demonstrates how local developments cannot be isolated from global events and vice versa. Therefore, this volume can be used as a standard reference for anyone seeking to understand surrogacy and egg donation from a macro-perspective in the next decade.
Reproductive Hazards of the Workplace Linda M. Frazier, MD, MPH Marvin L. Hage, MD In the face of rising medical costs, health care reform, intense media scrutiny, and the trend toward delayed pregnancies, the concern over on-the-job reproductive hazards is at an all-time high. The need to develop effective strategies for protecting the reproductive health of employees—female and male—is more critical than ever. Reproductive Hazards of the Workplace is designed to help managers, primary care physicians, and health and safety professionals manage and prevent occupational reproductive risks. Like other entries in Van Nostrand Reinhold’s Hazards of the Workplace series, the book offers a wealth of valuable, up-to-date information plus expert-tested methodologies and advice for handling risk exposure. Reproductive Hazards of the Workplace begins by covering basic reproductive and developmental biology and fundamentals of risk assessment and reduction. It shows readers how to take into account influencing factors such as the employee’s age, personal habits, and existing conditions (such as diabetes and hypertension). From this foundation, the text explains how to recognize and manage a wide range of potential threats to reproductive health, including:
This insightful and thought-provoking 2002 collection of chapters describes the rapid advances that had revolutionised reproductive medicine in the years leading up to its publication. This transformation was the result of converging and overlapping developments in reproductive biology, molecular biology and genetics. These advances allied with remarkable technical developments pushed the boundaries of this discipline ever faster forward. This volume surveys this rapid expansion as it stood in 2002 and looks ahead at exciting prospects for the future that stand at the watershed between basic science and clinical application. From oogeneis and spermatogenesis, through to fertilisation, embryogenesis and cloning, this volume looks at scientific advances. Subsequent chapters focus on infertility and its diagnosis and treatment using the full armory of assisted reproductive technologies. A concluding section surveys the impact of these developments on the provision, regulation and financing of reproductive health care in the global community.
Embryoimplantationisaremarkableandcomplexprocess. Approachesde- velopedfromthefieldsofcellanddevelopmentalbiology,immunology, andmolecularbiologyhavegreatlyenhancedourabilitytostudythe sharedaswellasuniquefeaturesofembryo-uterineinteractions. Impres- siveandcriticalgroundworkhasbeenlaidbyalargeanddedicatedarray ofendocrinologists,reproductivebiologists,andanatomists. Thesestudies havesetthestagetoutilizesensitiveandsophisticatedtechniquestode- tectandmodulateproteinandgeneexpression. Justasthesymbiosisofmother andfetusiscriticalforthemaintenanceofpregnancy,soisthesynergyamong investigatorsfrommanydisciplines,bothinbasicandclinicalarenas,keyto unravelingthemysteriesofimplantationandplacentation. Alargegroupof contributorsinthisfieldhadtheopportunitytomeetanddiscussthestateof thisartwiththesupportofSeronoSymposiaUSA,Inc. Whileitisneverpos- sibletobringtogethereveryonewhohasplayedanimportantrole,itwas, nonetheless,bothexcitingandgratifyingtohavesomanycolleaguestogether forthisevent. Inthechaptersthatfollow,thehighlightsofthismeetingarepresented assummarizedbytheindividualpresentersofsevendifferentsessions. The topichasbeenconsideredfromthebroadsocialandethicalimplications ofmoderninvitrofertilizationandassistedreproductivetechnologiesto detailedmolecularcontrolsovereventsthatoccurduringembryonicdevel- opment,uterinepreparationforimplantation,andplacentalorganogenesis. Thesechaptersdemonstratethesignificantandrapidprogressbeingmade inthisfieldofbiologyandmedicine. Atthesametime,theyshowthat muchmoreneedstobedonetounderstandandfullyappreciatethispro- cess. Lessonslearnedfromthiseffortcanbeexpectedtocontinuetopro- videinsightsintoother,relatedfields. Ofthemanycontributorstoour understandingoftheprocessofimplantation,nonehavehadalargerim- pactthanourcolleague,AllenEnders. Dr. Endershasplayedaparamount roleindevelopingthebasicunderstandingofthecellbiologicalprocesses vii VIII Preface underlyingimplantationandplacentationinmanyspecies,includinghu- mans. Hecontinuestocontributeandguidethoughtintheseareas. The participantsofthissymposiumrecognizedDr. Enders'impressivecontribu- tionsbyholdingthiseventinhishonor. DANIELD. CARSON * Contents Preface vii Contributors xiii PartI. Development and Future ofHuman In Vitro Fertilization and Embryo Implantation I. ImplantationintheHumanasViewedbyCanonLaw, CivilLaw,andNaturalReason 3 HOWARDW. JONES, JR. , RICHARDA. MCCORMICK, AND SUSAN L. CROCKIN 2. TheImpactofMaternalAgeandOvarianAge onImplantationEfficiency...12 STEVEN SPANDORFER AND ZEV ROSENWAKS Part II. CellularAspects ofImplantation 3. VascularInvasionDuringImplantationandPlacentation 23 ALLEN C. ENDERS AND THOMASN. BLANKENSHIP 4. OxygenRegulatesHumanCytotrophoblastProliferation, Differentiation,andInvasion:Implicationsfor EndovascularInvasioninNormalPregnancy andPreeclampsia 39 OLGA GENBACEV,YAN ZHOU, MICHAEL T. McMASTER, JOHNW. LUDLOW, CAROLINEH. DAMSKY, AND SUSAN1. FISHER 5. Embryo-MaternalInteractionsafterDiapause inaMarsupial 54 MARILYNB. RENFREE AND GEOFFREY SHAW IX x Contents 6. CellularInteractionsandtheCysteineProteinases intheProcessofMouseImplantation 67 BRUCE BABIARZ, SUZANNE AFONSO, ANDLINDA ROMAGNANO Part III. HormonalRegulation 7. NovelSteroid-RegulatedMarkersofImplantation 83 INDRANIC. BAGCHI 8. MolecularSignalinginImplantation 92 SANJOYK. DAS, BIBHASHC. PARIA, AND SUDHANSU K. DEY 9. IdentificationofProgesterone-RegulatedGenes intheUterus 107 CINDEER. FUNK, BERTW. O'MALLEY, AND FRANCESCO1. DEMAYO PartIV. MolecularMarkersofReceptivity 10. MucinsProvideaBarriertoEmbryoImplantation 123 MARYM. DESOUZA, GULNARA. SURVEYOR, XINHUI ZHOU, JoANNE JULIAN, ANDDANIELD. CARSON II. PotentialInvolvementofTrophinin,Bystin, andTastininEmbryoImplantation 132 MICHIKON. FUKUDA, DAITA NADANO,NAO SUZUKJ, AND JUN NAKAYAMA 12. OsteopontininHumanEndometrium: ARoleinEndometrialReceptivityand EmbryoImplantation? 141 CHRISTOS COUTIFARJS,AKINYINKA OMIGBODUN, PIOTR ZIOLKIEWICZ, AND JOHN HOYER PartV. TrophoblastFactors 13. TheRabbitasaModelforImplantation: InVivoandInVitroStudies 151 LORENH. HOFFMAN,D. RACHEL BREINAN, AND GARETHL. BLAEUER 14. RegulationofTrophoblastEndocrineFunction: ThePlacentaDoesItsOwnThingTranscriptionally...161 JEROMEF. STRAUSSIII ANDLEE-CHUANKAo Contents XI 15. TranscriptionFactorsRegulatingtheDifferentiation oftheTrophoblastCellLineage 167 IANC. SCOTTANDJAMESC.
Pre-eclampsia is one of the leading causes of death and disability in mothers and babies. Over four million women worldwide will develop the disorder every year. This book, written by an international team of experts, focuses on both the scientific basis of pre-eclampsia and its management. The basic science section contains reviews of the most exciting research developments in pre-eclampsia. The clinical chapters provide a comprehensive review of the pertinent literature, highlighting data and ideas or developments in management. There is a section in each chapter (where relevant) that deals with practical management, giving clinicians a formulated treatment plan that they can implement directly. The book was originally published in 2007, and will have continuing relevance for all professionals interested in the reproductive sciences, and to obstetricians and physicians with an interest in pre-eclampsia.
Ectogenesis refers to the artificial gestation of a fetus outside the womb. Despite certain advantages for women's reproductive liberty, feminist groups remain divided regarding this technology. This book argues that reproduction imposes unjust burdens on women, and thus the ideals of equal opportunity demand continued research into ectogenesis.
Enhancing Fertility through Functional Medicine: Using Nutrigenomics to Solve 'Unexplained' Infertility provides cutting-edge information and solutions to help support the worldwide rise of fertility challenges. It addresses common, yet not commonly known, root-causes of oxidative stress that are at the heart of reproductive issues (and all chronic health issues). These solutions can help enhance the outcomes of Assisted Reproductive Technologies (ART) or support women to avoid them altogether. Enhancing Fertility through Functional Medicine: Using Nutrigenomics to Solve 'Unexplained' Infertility will show you how to improve cell health (including egg and sperm), lower inflammation, balance nervous system functioning, and optimize genetic expression, allowing the body to return to its naturally fertile state. It details information on numerous root causes of health-derailing inflammation and oxidative stress, while the appendices discuss the genetic and biochemical pathways related to these topics. Each chapter also provides easy "Action Steps" that can be implemented immediately. Chapter topics include iron dysregulation; oxalates; mold/mycotoxins; phase 2 liver detoxification pathways; fat utilization; introductory information on genetics, epigenetics, and nutrigenomics; everything one needs to know about histamine intolerance; and how these factors adversely affect metabolic and reproductive functions. Enhancing Fertility through Functional Medicine: Using Nutrigenomics to Solve 'Unexplained' Infertility is the handbook for people wanting to achieve and sustain a healthy pregnancy. It highlights lesser-known causes of fertility challenges the reader can learn how to investigate. This book also serves as a reference guide for practitioners, providing them with additional tools to add to their repertoires when other protocols have not been effective. It may also provide clarity as to why other protocols did not work, and will enable the practitioner to custom-tailor protocols for each patient.
Human Gonadotropins is a must-have reference for basic science researchers looking to maximize their knowledge in this specific field of study. Luteinizing hormone, follicle-stimulating hormone, and human chorionic gonadotropin are essential for reproduction and outlined in detail in this work, covering topics ranging from antibodies and immunoassays, to commercial products and standards, genetics, and receptors and intermediaries for gonadotropins. Dr. Laurence Cole has been recognized for his outstanding research throughout his illustrious career. He has received awards from the Institute for Anticancer Research, Biannual Prize for best research; American Association for Clinical Chemistry, Most Outstanding Research Contributor to Clinical Chemistry Prize; Gynecology Oncology, Outstanding Speaker Award; and International Society for Study of Trophoblastic Disease, Gold Medal for most outstanding research. This detailed resource compiles all the recent research together into one volume, with one consistent voice.
A collection of cutting-edge laboratory techniques for the study of trophoblast and placental biology. The techniques presented range from experimental animal models, to animal and human placental organ and cell culture systems, to morphological, biochemical, and molecular strategies for assessing trophoblast/placental growth, differentiation and function. Volume 1 provides readily reproducible protocols for studying embryo-uterine implantation, trophoblast cell development, and the organization and molecular characterization of the placenta. Highlights include strategies for the isolation and culture of trophoblast cells from primates, ruminants, and rodents, and precise guidance to the molecular and cellular analysis of the placental phenotype. A companion second volume concentrates on methods for investigating placental function.
The United Nations Madrid International Plan of Action on Ageing (MIPAA) offers a bold new agenda for handling the issue of ageing in the 21st-century. It focuses on three priority areas: older persons and development; advancing health and well-being into old age; and ensuring enabling and supportive environments. This book brings together global perspectives on the MIPAA and focusses on and assesses the success and failures of governments to implement its recommendations. Despite its pivotal importance in international ageing policy, the MIPAA has been relatively neglected by academics in their writings and studies. This book mitigates this analytical and empirical cavity. Each chapter focuses on one specific geographical region and addresses five key themes: National ageing situation; Twenty years of MIPAA; Ensuring ageing with dignity; Healthy and active ageing in a sustainable world; and Priorities for the future. It presents an overall summary of the findings, future challenges and opportunities related to ageing, recommendations for future actions to be taken, and policy adjustments needed. The authors also present lessons that were learnt from managing the impact of COVID-19 on older people, together with an outlook on the most immediate priorities for the future so that the recommendations in the MIPAA are achieved in post-COVID-19 and sustainable ethical scenarios. An important contribution towards the advancement of ageing policy, the book will be indispensable to students and researchers of gerontology, ageing, and health. It will also be of interest to policy makers, geriatricians, dementia care specialists, social policy makers responsible for ensuring active and healthy ageing, and all public sector departments which have specific responsibilities towards improving the quality of life of older adults.
Offering a well-organized, straightforward approach to a highly complex subject, Larsen's Human Embryology, 6th Edition, provides easy-to-read, comprehensive coverage of human embryonic development for today's students. It integrates anatomy and histology with cellular and molecular mechanisms, focusing on both normal development and congenital anomalies. Highly illustrated with superb drawings and photographs, it features a strong clinical focus based on the most up-to-date scientific discoveries and understanding.Contains new information on gene editing via CRISPr technology, organoids and the study of human disease, transcription factors and signaling pathways, and single cell sequencing. Includes clinical scenarios that describe prevention, diagnosis, and treatment of human birth defects and disease. Features a superior art program, online animations, and high-quality drawings and photographs throughout-ideal for today's visual learners. * Includes a strong clinical emphasis through the use of Clinical Tasters, Embryology in Practice, and In the Clinic sections. Provides additional information on mechanisms of development and research approaches and strategies to establish these mechanisms with In the Research Lab sections. Begins each chapter with an overview of main points as well as a graphical summary, with key terms listed in bold type. Covers the embryology information that today's medical students need to know for Board exams, clinics, and more, in a readable, straightforward manner. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access 50 narrated animations, multiple-choice questions, and all of the text, figures, and references from the book on a variety of devices.
Reflecting the increasing interest in fertility management for pediatric and adolescent patients and fulfilling an urgent need to have a comprehensive guide to the management of these individuals, this is the first book of its kind to present a comprehensive discussion of pediatric and adolescent oncofertility. It carefully examines the impact of pediatric cancer and cancer therapy on fertility and presents both current and emerging fertility preservation techniques for both males and females, such as cryopreservation. Fertility concerns beyond cancer are also discussed, including disorders of sexual differentiation, gender dysphoria and thalassemia. Practical chapters on pediatric oncofertility in the clinic round out the book, covering setting up a practice, counseling and consent, disclosure and insurance considerations. Concluding chapters document fertility preservation techniques and outcomes internationally, with contributions from Portuguese, Brazilian and Japanese authors. Timely and wide-ranging, Pediatric and Adolescent Oncofertility is an ideal resource for reproductive medicine specialists, pediatric oncologists, and primary care physicians treating pediatric and adolescent cancer patients looking to protect fertility options.
This book presents the contemporary history and dynamics of Mexican midwifery - professional, (post)modern or autonomous, traditional and Indigenous - as profoundly political and embedded in differing societal stratifications. By situated politics, the authors refer to various networks, spaces and territories, which are also constructed by the midwives. By politically situated, the authors refer to various intersections, unsettled relations and contexts in which Mexican midwives are positioned. Examining Mexican midwiferies in depth, the volume sharpens the focus on the worlds in which midwives are profoundly immersed as agents in generating and participating in movements, alliances, health professions, communities, homes, territories and knowledges. The chapters provide a complex panorama of midwives in Mexico with an array of insights into their professional and political autonomy, (post)coloniality, body-territoriality, the challenges of defining midwifery, and above all, into the ways in which contemporary Mexican midwiferies relate to a complex set of human rights. The book will be of interest to a range of scholars from anthropology, sociology, politics, global health, gender studies, development studies, and Latin American studies, as well as to midwives and other professionals involved in childbirth policy and practice.
Infertility Comics and Graphic Medicine examines women's graphic memoirs on infertility, foregrounding the complex interrelationship between women's life writing, infertility studies, and graphic medicine. Through a scholarly examination of the artists' use of visual-verbal codes of the comics medium in narrating their physical ordeals and affective challenges occasioned by infertility, the book seeks to foreground the intricacies of gender identity, embodiment, subjectivity, and illness experience. Providing long-overdue scholarly attention on the perspectives of autobiographical and comics studies, the authors examine the gendered nature of the infertility experience and the notion of motherhood as an ideological force which interpolates socio-cultural discourses, accentuating the potential of graphic medicine as a creative space for the infertile women to voice their hitherto silenced perspectives on childlessness with force and urgency. This interdisciplinary volume will be of interest to scholars and students in comics studies, the health humanities, literature, and women's and gender studies, and will also be suitable for readers in visual studies and narrative medicine.
In this novel examination of the issue of abortion, the authors offer a primer in the biological aspects of fetal development and its impact on the abortion controversy. Although purely scientific study cannot offer a universal solution to the issue of abortion, nor can a purely political or moral response be fully informed without the benefit of the latest scientific knowledge. Reviewing the latest developments in molecular biology, evolutionary biology, embryology, and neurophysiology, the authors reveal a surprising agreement of scientific opinion on when 'humanness' begins: with the development of a highly developed cerebral cortex. It is on this issue that the authors focus with sensitivity to the myriad of ethical and religious arguments that surround it.
This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims. |
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