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Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabr...
Preimplantation genetic diagnosis (PGD) is a rapidly advancing field of reproductive genetics. With the significant improvements achieved over the last few years in the understanding of many genetic diseases and in the techniques of molecular genetic testing, new genetic diseases are being added to the list of conditions amenable to PGD almost on a weekly basis. Therefore, the subject of PGD is becoming relevant to a much wider variety of medical disciplines and an increasing number of patients who may wish to know more about this treatment option. This unique book offers a comprehensive yet practical “user-friendly” guide to preimplantation genetic diagnosis (PGD). It provides understan...
In Environmental Ethics and Medical Reproduction, Dr. Cristina Richie uses the term "medicalized reproduction" (MR) to describe the impact of technology on human reproduction, including from pre-conception gamete retrieval, in-vitro fertilization (IVF), and birthing suites. Unlike other areas of high-carbon health care, such as organ transplantation or chemotherapy, medicalized reproduction does not treat, cure, or prevent disease. It is supported by an economized medical industry, and as such, is open for ethical scrutiny. This book considers how technology has fundamentally changed the discussion on biomedical ethics, environmental ethics, and reproductive ethics.
Human Embryos and Preimplantation Genetic Technologies: Ethical, Social, and Public Policy Aspects presents the first holistic analysis of PGD and PGS as it is practiced and regulated worldwide. In addition to scientific and technical aspects, the book provides perspectives on the ethical, legal, religious, policy and social implications of global assisted reproduction technologies, including in Africa, Asia, Europe, North and South America, and Australia. Chapters cover history, ethics, feminism, family dynamics, psychological and interpersonal factors, the current state of PGD and PGS in 20 different sovereign nations and religious communities, and provide an analysis of public policy concerns and future directions. - Provides an in-depth discussion of PGD and PGS as practiced and regulated worldwide - Offers an accessible resource for researchers, medical professionals, patients, regulators and policymakers seeking expert opinions on PGS and PGD - Contains chapters contributed by international clinicians, researchers and thought leaders in the field of assisted reproductive technology
Die Frage der rechtlichen Zulassigkeit der Praimplantationsdiagnostik gehorte uber viele Jahre zu den am meisten diskutierten Fragen im deutschen Reproduktionsmedizinstrafrecht. Sie fuhrte zu erheblichen Rechtsunsicherheiten bei den beteiligten Medizinern, weshalb diese Diagnosemethode in Deutschland grundsatzlich nicht angewendet wurde. Im Jahr 2011 erliess der Deutsche Bundestag das Praimplantationsdiagnostikgesetz, das die Anwendung der Praimplantationsdiagnostik in Deutschland erstmals in Ausnahmefallen explizit zuliess. In England wird diese Methode seit vielen Jahren praktiziert und ist auch ausdrucklich gesetzlich geregelt. Sabrina Ducker vergleicht die deutsche und englische Herangehensweise und erarbeitet Vorschlage fur die zukunftige rechtliche Regelung der Praimplantationsdiagnostik in Deutschland.
This book won the INDIEFAB 2015 Bronze Award for Science (Adult nonfiction).Genetically modified organisms (GMOs) including plants and the foods made from them, are a hot topic of debate today, but soon related technology could go much further and literally change what it means to be human. Scientists are on the verge of being able to create people who are GMOs.Should they do it? Could we become a healthier and 'better' species or might eugenics go viral leading to a real, new world of genetic dystopia? GMO Sapiens tackles such questions by taking a fresh look at the cutting-edge biotech discoveries that have made genetically modified people possible.Bioengineering, genomics, synthetic biology, and stem cells are changing sci-fi into reality before our eyes. This book will capture your imagination with its clear, approachable writing style. It will draw you into the fascinating discussion of the life-changing science of human genetic modification.
Analyzes how the possibility of egg freezing changes what it means to be fertile and to age in the 21st century Welcomed as liberation and dismissed as exploitation, egg freezing (oocyte cryopreservation) has rapidly become one of the most widely-discussed and influential new reproductive technologies of this century. In Freezing Fertility, Lucy van de Wiel takes us inside the world of fertility preservation—with its egg freezing parties, contested age limits, proactive anticipations and equity investments—and shows how the popularization of egg freezing has profound consequences for the way in which female fertility and reproductive aging are understood, commercialized and politicized. ...
The most profound dilemma in assisted reproduction to date is the inability to recognize potentially viable embryos before their replacement into the reproductive tract. Application of increasingly advanced new technology has allowed the field of embryo evaluation to evolve rapidly and dramatically over the past five years.Human Preimplantation Emb