Hereditary diseases and disorders Books
HarperCollins Publishers Inc The Disease Delusion
Book SynopsisFor decades, Dr. Jeffrey Bland has been on the cutting edge of Functional Medicine, which seeks to pinpoint and prevent the cause of illness, rather than treat its symptoms. Managing chronic diseases accounts for three quarters of our total healthcare costs, because we''re masking these illnesses with pills and temporary treatments, rather than addressing their underlying causes, he argues. Worse, only treating symptoms leads us down the path of further illness.In The Disease Delusion, Dr. Bland explains what Functional Medicine is and what it can do for you. While advances in modern science have nearly doubled our lifespans in only four generations, our quality of life has not reached its full potential. Outlining the reasons why we suffer chronic diseases from asthma and diabetes to obesity, arthritis and cancer to a host of other ailments, Dr. Bland offers achievable, science-based solutions that can alleviate these common conditions and offers a roadmap for a lifetime of wellness.Trade Review"The godfather of functional medicine elegantly explains the core tools to overcome the chronic ailments of modern society." -- Mehmet Oz, M.D. "Dr. Bland's book should be a textbook in medical schools all over the world. I wish I had found it while I was in medical school myself." -- Alejandro Junger, MD, Founder of the Clean Program "What the personal computer revolution did for old-fashioned mainframe computing-empowering us all-is what functional medicine is doing for healthcare; and if there is a Steve Jobs of functional medicine, it is Jeffrey Bland-visionary, innovative, and perennially two steps ahead." -- Dale E. Bredesen, MD, Augustus Rose Professor, Director, Mary S. Easton Center for Alzheimer's Disease Research, Director, Neurodegenerative Disease Research David Geffen School of Medicine UCLA "Filled with solid science, fascinating medical detective stories, and practical tips, this powerful book can save your life." -- Daniel G. Amen, MD, Founder, Amen Clinics and New York Times bestselling author
£11.69
Inner Traditions Bear and Company The Biogenealogy Sourcebook: Healing the Body by
Book SynopsisBiogenealogy is a comprehensive new vision of health that takes the mind-body connection one step further by identifying and consciously addressing the emotional shocks that create physical disorders. Each symptom of an illness precisely indicates its emotional origin. Thus, far from being an enemy, the physical symptom is actually a valuable ally that provides the key to the cure of the physical disease as well as resolution of the emotional imbalance that created it. Christian Flèche, the leading researcher and practitioner in the field of biogenealogy, explains that the “activation of illness” is the body’s reaction to unresolved events that are frozen in time. These unresolved traumas affect the body on the cellular level and manifest in minor as well as more serious chronic conditions. In The Biogenealogy Sourcebook, Flèche systematically chronicles all the major organs of the body and specifies the types of emotional conflicts that lead to illness in those areas. For example, he explains that conflicts of separation are evidenced in diseases of the skin; a reduction of self-worth or deep anguish will manifest in the lymph nodes. He also shows that unresolved emotional issues can also be passed down to future generations if left untreated. Intended for therapists, researchers, and any person who wants to take his or her health in hand, this book is an important guide to understanding and decoding the causes and not just the effects of illness.Trade Review"The Biogenealogy Sourcebook is as thought provoking as it is practical in showing us one of the true conduits between creation and nature. It opens up some of the secrets by which we were meant to live our lives and presents us with a template to align our physical and emotional needs. Reading it could well change your life and who knows one day it might even save it." * Huw Griffiths, New Dawn, Sept-Oct 2009 *Table of Contents Acknowledgments Preface Introduction: The General Principles of Biogenealogy 1. Cardiology 2. Dermatology 3. Digestive System 4. Endocrinology 5. Hematology 6. Neurology 7. Ophthalmology 8. Osteology and the Musculoskeletal System 9. Otolaryngology: Ear, Nose, and Throat 10. Pulmonology 11. Reproductive System: Andrology 12. Reproductive System: Gynecology 13. Urology Conclusion Glossary Index
£16.14
Obelisco Descodificacion Biologica Y Destino Fam
Book Synopsis
£13.14
Hay House Inc The DNA Way
Book SynopsisTrade ReviewKnowledge is power. Kashif reveals his health journey to help empower you with the knowledge you need for your own longevity and vitality. - Steven R. Gundry, M.D., New York Times best-selling author of The Plant ParadoxI absolutely love how Kashif lays out a functional approach to our genetics! When it comes to hormones, this perspective is massively needed!! If you are looking to understand your genes and how to choose a lifestyle that works with your genetics, then this is the book for you. A game-changing resource that we have all been waiting for. - Dr. Mindy Pelz, fasting expert and Wall Street Journal and national best-selling authorThe insights that Kashif was able to deliver about the inner workings of my brain and body were mind-blowing. It's like he accessed my human instruction manual. - Joe De Sena, CEO and founder of Spartan RaceThe ultimate life hack to take control of your health, performance and longevity. - Bear Grylls, adventurer, writer and presenter
£15.29
HarperCollins Publishers Inc The Cure
Book Synopsis
£20.13
Elsevier Science Molecular Chaperones in Human Disorders
Book SynopsisTable of Contents1. Functional principles and regulation of molecular chaperones Johannes Buchner 2. Chaperones and retinal disorders Nikolai O. Artemyev 3. Protein misfolding and degradation in genetic diseases Rasmus Hartmann-Petersen 4. Chaperone dysfunction in hereditary myopathic diseases Andreas Roos 5. Diseases caused by functional disorder of molecular chaperones residing in the endoplasmic reticulum Masafumi Sakono 6. Structural and functional insights on the roles of molecular chaperones in the mistargeting and aggregation phenotypes associated with primary hyperoxaluria type I Angel Luis Pey 7. Inflammatory response and its relation to sphingolipid metabolism proteins: Targeting inflammation with molecular chaperones Elif Ozkirimli 8. When safeguarding goes wrong: impact of oxidative stress on proteins homeostasis in health and neurodegenerative disorders Dana Reichmann 9. Computational approach to unravel the misfolding mechanism of Glucosylceramidase mutations in Gaucher Disease George Priya Doss P. C 10. Cytosolic quality control proteins, SGTA and the Bag6 complex, in disease Rivka L. Isaacson
£78.00
Penguin Putnam Inc A Cancer In The Family Take Control of Your
Book SynopsisA Kirkus Best Book of 2016 Oncologist and cancer gene hunter Theo Ross delivers the first authoritative, go-to for people facing a genetic predisposition for cancer There are 13 million people with cancer in the United States, and it’s estimated that about 1.3 million of these cases are hereditary. Yet despite advanced training in cancer genetics and years of practicing medicine, Dr. Theo Ross was never certain whether the history of cancers in her family was simple bad luck or a sign that they were carriers of a cancer-causing genetic mutation. Then she was diagnosed with melanoma, and for someone with a dark complexion, melanoma made no sense. It turned out there was a genetic factor at work. Using her own family’s story, the latest science of cancer genetics, and her experience as a practicing physician, Ross shows readers how to spot the patterns of inherited cancer, how to get tested for cancer-causing gen
£13.49
Oxford University Press Inc Human Flourishing in an Age of Gene Editing
Book SynopsisInternational 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 technologiesTrade ReviewThe book starts with a bang, an impassioned and beautifully written essay by Rosemarie Garland-Thompson, the disability studies pioneer, who tells her tale of flourishing despite — indeed in part because of — the genetic condition with which she was born and has lived. It is a compelling firstperson narrative. As a collection, the essays aim to move beyond technical genetic fixes to the human genome, and examine whether interventions at the genetic, individual, or social levels are most appropriate for enabling human flourishing. They address "how should we think about it," rather than prescribe policy solutions. * Robert Cook-Deegan, Arizona State University, Issues in Science and Technology *I should stress [...] that each chapter is self-standing, and may be read independently of the others. But my guess is that you will become rapidly aware of the global coherence of the work, and that you will end up with no part of it left unread ... * François Nau, Université de Poitiers, ESSAT News and Reviews *
£50.96
Oxford University Press Neurodisability and Community Child Health
Book SynopsisContaining concise, updated, and easy-to-use summaries on a comprehensive range of clinical scenarios and conditions encountered by paediatricians and multi-disciplinary professionals in their everyday practice, this new edition of Neurodisability and Community Child Health has been substantially revised to be the ideal companion for anyone working with children.
£61.17
John Wiley & Sons Inc A Practical Guide to Clinical Virology
Book SynopsisA practical, illustrated, quick reference guide to clinical virology. It brings together the essentials of the subject in an informative style, describing in turn the clinical features, the symptoms and signs of each of the viral diseases, as well as summarising the epidemiology, laboratory diagnosis and therapy in each case.Table of ContentsContributors ix Preface xi Preface to 1st Edition xiii Abbreviations xv References for Further Reading xvii 1 Classification and Nomenclature of Human and Animal Viruses 1Y. Ghendon 2 Viruses and Disease 7G. Haukenes and J. R. Pattison 3 Laboratory Diagnosis of Virus Infections 15G. Haukenes and R. J. Whitley 4 Antiviral Drugs 21J. S. Oxford and R. J. Whitley 5 Virus Vaccines 37L. R. Haaheim and J. R. Pattison 6 Enteroviruses: Polioviruses, Coxsackieviruses, Echoviruses and Newer Enteroviruses 45A. L. Bruu 7 Polioviruses 47A. L. Bruu 8 Coxsackieviruses, Echoviruses and Enteroviruses 29–34 and 68–71 55A. L. Bruu 9 Rhinoviruses and Coronaviruses 61I. Ørstavik 10 Influenzaviruses 67L. R. Haaheim 11 Parainfluenzaviruses 75A. B. Dalen 12 Mumps Virus 81B. Bjorvatn and G. Haukenes 13 Respiratory Syncytial Virus (RSV) 89G. Ånestad 14 Measles Virus 97N. A. Halsey 15 Rubella Virus 105G. Haukenes 16 Adenoviruses 113I. Ørstavik and D. Wiger 17 Rotaviruses 121I. Ørstavik and E. Kjeldsberg 18 Herpes Simplex Virus (HSV1 and HSV2) 127E. Tjøtta and G. Hoddevik 19 Varicella-Zoster Virus (VZV)—Varicella 137A. Winsnes and R. Winsnes 20 Varicella-Zoster Virus (VZV)—Zoster 145A. Winsnes and R. Winsnes 21 Cytomegalovirus (CMV) 149A. B. Dalen 22 Epstein–Barr Virus (EBV) 157E. Tjøtta 23 Human Herpesvirus 6 (HHV-6) 167J. A. McCullers 24 Hepatitis A Virus 173M. Degré 25 Hepatitis B Virus 179G. L. Davis 26 Hepatitis C Virus 185G. L. Davis 27 Hepatitis D Virus 191G. L. Davis 28 Hepatitis E Virus 195M. Degré 29 Emerging Hepatitis Viruses 201G. L. Davis 30 Parvovirus B19 203J. R. Pattison 31 Retroviruses 209A. B. Dalen 32 Human Immunodeficiency Virus (HIV) 213B. Asjö 33 Human T-Cell Lymphotropic Virus Type I and II 221R. J. Whitley and G. Shaw 34 Tick-borne Encephalitis (TBE) Virus 227T. Traavik 35 Hantaviruses—HFRS and HPS 235D. Wiger 36 Haemorrhagic Fever Viruses 241G. Haukenes 37 Rabies Virus 245B. Bjorvatn and G. Haukenes 38 Human Papillomavirus (HPV) 251T. Traavik 39 Human Polyomaviruses 259T. Traavik 40 Slow Viruses 263G. Haukenes 41 Poxviruses 267G. Haukenes 42 Clinical Syndromes 271G. Haukenes and J. R. Pattison Index 277
£170.06
University of California Press Blood Saga
Book SynopsisChronicles the emergence and transformation of hemophilia community. This book sets the story within our national political landscape - where the disease is also a social, psychological, and economic experience.
£42.40
Rutgers University Press To Test or Not to Test A Guide to Genetic
Book SynopsisOffers a template that can guide individuals and families through the decision-making process and offers additional resources where they can gain more information.Trade Review"Dr. Zallen has a unique talent for translating complicated scientific and ethical matters around genetic screening into understandable concepts that families and individuals can use to make decisions about risk and testing." -- Abbey S. Myers * founder and former president of the National Organization for Rare Disorders *"New genetic tests are being developed and offered at a dizzying pace, considerably outstripping the ability of most practicing physicians, let alone the general public, to understand how best to use them. Doris Teichler Zallen here offers a valuable guide, informed by both a thorough grasp of the underlying genetic science as well as the actual experiences of others who have faced difficult decisions to be tested or not." -- Howard Brody, MD, PhD * University of Texas Medical Branch-Galveston *"Doris Teichler Zallen provides readers with a refreshingly honest and carefully researched up-to-date discussion about the utility and limitations of predictive genetic testing. Seamlessly woven throughout the book are candid first-person accounts from diverse men and women—individuals who vividly describe both their positive and negative experiences associated with genetic testing—making this a captivating book that broadens our minds while touching our hearts." -- Elizabeth M. Petty, MD * University of Michigan Medical School *"With rapidly changing developments in genetic resesarch, new information is needed on a regular basis, and Zallen's well-written, reasonably priced volume is the perfect answer. The guidance here will go a long way toward helping individuals make the choice that is right for their own personal circumstances. Essential." -- Tina Neville * Library Journal *"The book's rich discussion of ethical issues will provide a sound knowledge base for readers ranging from patients and their families to advanced undergraduated to health care providers. This is an exceptional resource that this reader could not put down. Highly recommended." * Choice *"Dr. Zallen has a unique talent for translating complicated scientific and ethical matters around genetic screening into understandable concepts that families and individuals can use to make decisions about risk and testing." -- Abbey S. Myers * founder and former president of the National Organization for Rare Disorders *"New genetic tests are being developed and offered at a dizzying pace, considerably outstripping the ability of most practicing physicians, let alone the general public, to understand how best to use them. Doris Teichler Zallen here offers a valuable guide, informed by both a thorough grasp of the underlying genetic science as well as the actual experiences of others who have faced difficult decisions to be tested or not." -- Howard Brody, MD, PhD * University of Texas Medical Branch-Galveston *"Doris Teichler Zallen provides readers with a refreshingly honest and carefully researched up-to-date discussion about the utility and limitations of predictive genetic testing. Seamlessly woven throughout the book are candid first-person accounts from diverse men and women—individuals who vividly describe both their positive and negative experiences associated with genetic testing—making this a captivating book that broadens our minds while touching our hearts." -- Elizabeth M. Petty, MD * University of Michigan Medical School *"With rapidly changing developments in genetic resesarch, new information is needed on a regular basis, and Zallen's well-written, reasonably priced volume is the perfect answer. The guidance here will go a long way toward helping individuals make the choice that is right for their own personal circumstances. Essential." -- Tina Neville * Library Journal *"The book's rich discussion of ethical issues will provide a sound knowledge base for readers ranging from patients and their families to advanced undergraduated to health care providers. This is an exceptional resource that this reader could not put down. Highly recommended." * Choice *Table of ContentsList of Figures and Tables Preface Important Note Introduction: Genetic Tests Are Different A Brief Overview of Susceptibility-Gene Testing Am I at a Higher Risk for This Disease than Other People? Will the Test Give Me Useful Information? Is This the Right Time in My Life to Be Taking This Test? Will the Advantages Gained from Having the Genetic Information Outweigh the Disadvantages? Decisions, Decisions Deciding about Other Types of Genetic Tests The Future of Genetic Medicine Appendix. A Brief Introduction to Genetics Glossary Resources Index
£20.69
John Wiley and Sons Ltd Cancer Cytogenetics
Book SynopsisThe first three editions of this acclaimed book presented a much-needed conceptual synthesis of this rapidly moving field. Now, Cancer Cytogenetics, Fourth Edition, offers a comprehensive, expanded, and up-to-date review of recent dramatic advances in this area, incorporating a vast amount of new data from the latest basic and clinical investigations. New contributors reflecting broader international authorship and even greater expertise Greater emphasis throughout on the clinical importance and application of information about cytogenetic and molecular aberrations Includes a complete coverage of chromosome aberrations in cancer based on an assessment of the 60,000 neoplasms cytogenetically investigated to date Now produced in full color for enhanced clarity Covers how molecular genetic data (PCR-based and sequencing information) are collated with the cytogenetic data where pertinent Discusses how molecular cytogeTable of ContentsContributors vii Preface to the Fourth Edition ix 1 How it all began: cancer cytogenetics before sequencing 1Felix Mitelman and Sverre Heim 2 Cytogenetic methods 11David Gisselsson 3 Cytogenetic nomenclature 19Sverre Heim and Felix Mitelman 4 Nonrandom chromosome abnormalities in cancer: an overview 26Sverre Heim and Felix Mitelman 5 From chromosomes to genes: searching for pathogenetic fusions in cancer 42Ioannis Panagopoulos 6 Acute myeloid leukemia 62Bertil Johansson and Christine J. Harrison 7 Myelodysplastic syndromes 126Harold J. Olney and Michelle M. Le Beau 8 Chronic myeloid leukemia 153Thoas Fioretos 9 Chronic myeloproliferative neoplasms 175Peter Vandenberghe and Lucienne Michaux 10 Acute lymphoblastic leukemia 198Christine J. Harrison and Bertil Johansson 11 Mature B] and T]cell neoplasms and Hodgkin lymphoma 252Reiner Siebert and Sietse M. Aukema 12 Tumors of the upper aerodigestive tract 332Susanne M. Gollin 13 Tumors of the lung 361Penny Nymark, Eeva Kettunen and Sakari Knuutila 14 Tumors of the digestive tract 373Georgia Bardi and Sverre Heim 15 Tumors of the urinary tract 401Paola Dal Cin 16 Tumors of the breast 426Manuel R. Teixeira, Nikos Pandis and Sverre Heim 17 Tumors of the female genital organs 447Francesca Micci and Sverre Heim 18 Tumors of the male genital organs 481Manuel R. Teixeira and Sverre Heim 19 Tumors of endocrine glands 497Jörn Bullerdiek and David Gisselsson 20 Tumors of the nervous system 515Petter Brandal and Sverre Heim 21 Tumors of the eye 538Karen Sisley 22 Tumors of the skin 555Fredrik Mertens, Felix Mitelman and Sverre Heim 23 Tumors of bone 566Fredrik Mertens and Nils Mandahl 24 Soft tissue tumors 583Nils Mandahl and Fredrik Mertens Index 615
£127.76
St Martin's Press Mercies in Disguise
Book Synopsis
£15.29
Celadon Books The Genome Odyssey
Book SynopsisThe future of medicine is already here. Dr. Euan Ashley, Stanford professor of medicine and genetics, leads the charge with his contributions to the practice of precision medicine, a concept that has already sparked massive improvements in the way doctors diagnose, treat, and prevent disease, and will continue to make a meaningful difference for anyone dealing with serious illness.In The Genome Odyssey, Dr. Ashley brings to vivid life the advancements his team has made in the field of genetic medicine. He shares the real diagnostic journeys of patients as their incredibly rare diseases are identified and effective treatment plans determined.The secret to Dr. Ashley's breakthroughs? His team was the first to successfully analyze a complete human genome. In fact, they hold the world record for the fastest genome sequencing at five hours and two minutes. With this capability to analyze their patients' full genetic makeup, Dr. Ashley's team is able to predi
£15.99
St Martin's Press The Genome Odyssey
Book SynopsisIn The Genome Odyssey, Dr. Euan Ashley, Stanford professor of medicine and genetics, brings the breakthroughs of precision medicine to vivid life through the real diagnostic journeys of his patients and the tireless efforts of his fellow doctors and scientists as they hunt to prevent, predict, and beat disease.Since the Human Genome Project was completed in 2003, the price of genome sequencing has dropped at a staggering rate. It's as if the price of a Ferrari went from $350,000 to a mere forty cents. Through breakthroughs made by Dr. Ashley's team at Stanford and other dedicated groups around the world, analyzing the human genome has decreased from a heroic multibillion dollar effort to a single clinical test costing less than $1,000. For the first time we have within our grasp the ability to predict our genetic future, to diagnose and prevent disease before it begins, and to decode what it really means to be human.In The Genome Odyssey,
£20.69
Austin Macauley Publishers Consciousness Influences Epigenetics in the
Book Synopsis
£14.39
Thomas Nelson Publishers lucha por mi vida Softcover Fighting for My Life
Book SynopsisLa enfermera retirada Jamie Tyrone, luego de recibir un diagnóstico de un 91% de riesgo de desarrollar Mal de Alzheimer debido a sus genes, se asocia con el Dr. Marwan Sabbagh, un destacado neurólogo, y crean una guía sencilla y útil para explorar los riesgos de las pruebas genéticas y vivir una vida productiva a la sombra del Alzheimer.
£13.29
State University Press of New York (SUNY) Going Blind A Memoir Excelsior Editions
£21.64
Xlibris Corporation Hereditary Hemochromatosis and Vitamin D Deficiency from UVB Radiation sunlight Originating from Northern Europe The Cause of Multiple Sclerosis
£12.47
Brookes Publishing Co Genetics and Mental Retardation Syndromes: A New
Book SynopsisThis comprehensive resource offers an explanation of genetic mental retardation syndromes and how they affect behaviour. Four major syndromes - Down, Williams, Fragile X and Prader-Willi - and several lesser-known syndromes are covered, with in-depth information on genetic causes, physical and medical features, speech and language issues, prevalence, cognitive profiles and adaptive and maladaptive behaviours. Researchers and practitioners - including mental health professionals, educators, speech-language pathologists and caregivers - should get the research-based information they need to improve individuals' educational, personal, occupational and residential situations and to create wider community inclusion.Table of ContentsToward Etiology-Based Work; Applying the New Genetics to Mental Retardation Syndromes; Down Syndrome; Williams Syndrome; Fragile X Syndrome; Prader-Willi Syndrome; Five Other Intriguing Syndromes; Next Steps for Research.
£33.96
Peppertree Press The Way We Roll, Now Comes Mitochondrial Myopathy
Book Synopsis
£23.84
Murphy & Moore Publishing Cystic Fibrosis: Diagnosis and Management
Book Synopsis
£117.12
John Wiley & Sons Inc Down Syndrome: A Review of Current Knowledge
Book SynopsisThis 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 personsTable of ContentsIntroduction. The person with Down Syndrome. Options for an independent life. People with Down Syndrome: Quality of life and future. A working role and full citizenship for the adult with Down Syndrome. Sexuality and individuals with Down Syndrome. Education. Developmental and systems linkages in early intervention for children with Down Syndrome. Promoting the educational competence of students with Down Syndrome. Inclusion: A committed form of working in school. Assistive technology compensating people with Down Syndrome.
£86.36
John Wiley & Sons Inc Definitions, Protocols and Guidelines in Genetic
Book SynopsisThis 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.Table of ContentsIntroduction - putting together the pieces of the auditory puzzle Section 1 - Terminology and Definitions. Audiological terms. Vestibular definitions. Epidemiological terms. Genetic terms. Section 2 - Protocols. Audiometric investigation of probands. Audiometric investigation of first degree relatives. Audiometric investigation of carriers. Vestibular protocol. Epidemiological criteria. The European congenital ear anomaly inventory. Protocol for syndromal disorders associated with hearing impairment. How to collaborate with a genetic lab. Section 3 - Phenotype/Genotype Correlation. Introduction - Genotypes and phenotypes of non-syndromal hearing impairments. Phenotype/Genotype correlation autosomal dominant and autosomal recessive non-syndromatic hearing impairment. X-genotypes and phenotypes of non-syndromal X-linked hearing impairment. Phenotype/genotype correlation hearing impairment with mitochondrial DNA mutations. Section 4 - Relevant web sites. The hereditary hearing loss homepage. Connexin 26 (GJB2) deafness homepage.
£53.96
John Wiley & Sons Inc Impact of Genetic Hearing Impairment
Book SynopsisThis book addresses the impact of genetic deafness/hearing impairment on people' s lives and those around them. It includes the perspectives of those who are deaf or hard of hearing as well as those working in the field. Professional topics include genetic counselling, social science, psychology, social work and - within medicine - audiological and ENT medical and audiological paediatrics. These practitioners are both hearing and hearing impaired. The impact of deafness on children, those of working age and elderly people is discussed highlighting the specific effect of genetic factors. In particular there are chapters on deafblindness and otosclerosis and NF2 (a potentially lethal condition). The Who definitions and ICF are used as a framework for considering the effect on people' s lives of impairment and their participation in society. This provides a bridge between the medical and social models of disability. Contributors write from both their professional and personal experience in order to try and address some of the issues raised by the real impact of genetic deafness on everyday life and how these can best be tackled by those working in the field.Trade Review"...this thought-provoking book provides a comprehensive review of the literature..." (Bulletin, December 2005)Table of ContentsList of contributors. Preface. Acknowledgements. Chapter 1 Future perfect: social aspects of genetics and deafness - Lesley Jones. Chapter 2Parents' attitudes towards genetic testing and the impact of deafness in the family - Anna Middleton. Chapter 3 The International Classification of Functioning, Disability and Health as a conceptural framework for the impact of genetic hearing impairment - Dafydd Stephens and Berth Danermark. Chapter 4 A common methodology for reviewing the impact of hearing impairment - Berth Danermark, Sophia Kramer and Dafydd Stephens. Chapter 5 The impact of hearing impairment in children - Dafydd Stephens. Chapter 6 A review of the psychosocial effects of hearing impairment in the working-age population - Berth Danermark. Chapter 7 The psychosocial impact of hearing loss among elderly people: a review - Sophia Kramer. Chapter 8 The impact of combined vision and hearing impairment and of deafblindness - Kerstin Moller. Chapter 9 The effects of otosclerosis - Nele Lemkens. Chapter 10 Psychosocial aspects of neurofibromatosis type 2 - Wanda Neary, Richard Ramsden, Gareth Evans and Michael Baser. Chapter 11 Moving forward: a life of changes - Pathricia Lago-Avery. Chapter 12 My genetic deafness - Jill Jones. Glossary. Index.
£77.36
Random House USA Inc Salt in My Soul: An Unfinished Life
Book Synopsis
£14.40
Springer International Publishing AG Congenital Müllerian Anomalies: Diagnosis and Management
Book SynopsisBringing together the most up-to-date information on congenital Müllerian anomalies, this comprehensive text explores advances in understanding the embryological causes of these malformations, the systems used to classify the many types of malformation that may be seen, and the field’s current diagnosis, evaluation and management techniques. Surgical strategies, including minimally invasive techniques, are described in detail, with chapters divided into two sections: vertical anomalies, such as imperforate hymen, transverse genital septum, and cervical and Müllerian agenesis; and lateral anomalies, such as septate, unicornate and bicornate uterus, uterus didelphys and obstructed hemivagina. Aimed at helping to maintain the future reproductive needs of the patient utilizing assisted reproductive technologies, this book is an excellent reference for OB/GYN surgeons and reproductive medicine specialists treating both adolescent or adult patients with these congenital malformations.Table of ContentsPart I: Etiology and Diagnosis.- Chapter 1. Müllerian Anomaly Classification Systems.- Chapter 2. Diagnostic Approach to Müllerian Anomalies.- Part II: Vertical Anomalies.- Chapter 3. Imperforate Hymen.- Chapter 4. Transverse Vaginal Septum.- Chapter 5. Cervical Agenesis.- Chapter 6. Mullerian Agenesis.- Part III: Lateral Anomalies.- Chapter 7. The Septate Uterus.- Chapter 8. Bicornuate Uterus.- Chapter 9. Uterus Didelphys.- Chapter 10. Unicornuate Uterus.- Chapter 11. Non-communicating Rudimentary Uterine Horns.- Chapter 12. Obstructed Hemivagina.
£67.49
Springer Social Freezing: Kryokonservierung unbefruchteter
Book SynopsisFrank Nawroth thematisiert das Social Freezing und die zugehörige Beratung, die nicht nur Chancen, sondern auch denkbare Komplikationen und Grenzen der Methode aufzeigen muss. Zum Beispiel haben die gesellschaftspolitisch nicht optimal gelöste Problematik des möglichen Karriere-Nachteils einer berufstätigen Mutter oder die häufig bestehende Schwierigkeit, den geeigneten Partner zu finden, bei gleichzeitig verbesserten Kryokonservierungsmethoden dazu geführt, dass Frauen ohne medizinische Indikation über das Einfrieren ihrer Eizellen nachdenken. Die Technologie selbst ist seit Längerem Routine vor fertilitätsbeeinträchtigenden Therapien onkologischer Erkrankungen (Operation, Strahlen- und/oder Chemotherapie) im reproduktiven Alter.Table of ContentsGrundlagen der Methode.- Durchführung des Social Freezing.- Chancen, mögliche Komplikationen, Grenzen des Social Freezing.
£9.99
Springer-Verlag Berlin and Heidelberg GmbH & Co. KG Kinderwunschsprechstunde
Book SynopsisPraxisnahe Anleitung zur optimalen Beratung und Betreuung von Kinderwunschpaaren, dafür steht das in dieser 3. Auflage erweiterte Autorenteam aus ausgewiesenen Spezialisten.Durchgehend aktualisiert führt 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 AusgangssituationenNeue Kapitel ergänzen die bewährte Zusammenstellung der Inhalte:- Fertilitätsprophylaxe bei malignen Erkrankungen- Rechtliche Aspekte der KinderwunschbehandlungTrade Review“… ein Werk, in dem das Basiswissen zum Thema Kinderwunsch in der gynäkologischen Praxis zusammengefasst, klare Empfehlungen zum Vorgehen bei typischen Fragestellungen erarbeitet werden und relevantes Wissen gebündelt, kurz und übersichtlich aufbereitet dargestellt wird ...” (in: Ärzte Zeitung, Heft 41, 17. April 2015)Table of ContentsPhysiologische Grundlagen.- Natürliche Familienplanung.- Hormonanalytik.- Systematischer Ansatz zur Diagnostik und Therapie bei Kinderwunschpaaren.- Lebensführung und Konzeptionschancen.- Grundlagen der ovariellen Stimulation.- Aufklärung zu Schwangerschaft und Geburt bei subfertilen Paaren.- Fertilitätsprophylaxe bei malignen Erkrankungen.- Anhang.
£56.99
Penguin Random House Grupo Editorial Toma el control de tu diabetes y revierte los
Book Synopsis
£15.16
World Scientific Publishing Co Pte Ltd Lysosomal Storage Disorders: Principles And
Book SynopsisThis book presents an overview of lysosomal storage disorders, and provides the reader with an understanding of clinical features, associated complications, and diagnosis and management approaches. It also describes historical developments in the field and current thinking relating to pathophysiology and prospective therapeutic strategies.The book is written by an expert in the field who has been engaged in both basic and clinical research, in addition to having extensive practical experience in patient care. It is written from the perspective of someone who entered the field just as treatment was being introduced, and who has been engaged in the seminal clinical trials and the development of therapeutic guidelines. It offers a broad perspective and should appeal to both novices and experts in the field who seek a single resource that provides a comprehensive picture of relevant topics on this subject.A multi-faceted volume, the author addresses the issue of diagnosis and patient management, underlying mechanisms of disease, sources of morbidity and treatment options, covering issues of interest to both the basic scientist and the clinician.Table of ContentsClinical Perspectives; Diagnostic Confirmation and Screening Protocols; Assessment of Disease Burden and Assignment of Disease Severity; Pathophysiology and Biomarkers; Current and Emerging Therapies; Future Prospects.
£80.75
