Hereditary diseases and disorders Books

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

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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.

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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

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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

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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.

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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.

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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.

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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.

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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.

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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.

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a huge range and FREE tracked UK delivery on ALL orders.

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a huge range and FREE tracked UK delivery on ALL orders.

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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

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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,

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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.

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