Hereditary diseases and disorders Books

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 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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