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Human genetics --- medische genetica --- Medical genetics --- Developmental biology --- Genetic Diseases, Inborn --- Chromosome Aberrations --- Genetics --- erfelijke ziekten

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Tests are a standard part of modern medicine. We willingly screen our blood, urine, vision, and hearing, and submit to a host of other exams with names so complicated that we can only refer to them by their initials: PET, ECG, CT, and MRI. Genetic tests of our risks for disease are the latest trend in medicine, touted as an approach to informed and targeted treatment. They offer hope for some, but also raise medical, ethical, and psychological concerns for many including when genetic information is worth having. To Test or Not to Test arms readers with questions that should be considered before they pursue genetic screening. Am I at higher risk for a disorder? Can genetic testing give me useful information? Is the timing right for testing? Do the benefits of having the genetic information outweigh the problems that testing can bring? Determining the answers to these questions is no easy task. In this highly readable book, Doris Teichler Zallen provides a template that can guide individuals and families through the decision-making process and offers additional resources where they can gain more information. She shares interviews with genetic specialists, doctors, and researchers, as well as the personal stories of nearly 100 people who have faced genetic-testing decisions. Her examples focus on genetic testing for four types of illnesses: breast/ovarian cancer (different disorders but closely connected), colon cancer, late-onset Alzheimer's disease, and hereditary hemochromatosis. From the more common diseases to the rare hereditary conditions, we learn what genetic screening is all about and what it can tell us about our risks. Given that we are now bombarded with ads in magazines and on television hawking the importance of pursuing genetic-testing, it is critical that we approach this tough issue with an arsenal of good information. To Test or Not to Test is an essential consumer tool-kit for the genetic decision-making process.

Genetic screening. --- Genetic disorders --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Human chromosome abnormalities --- Medical screening --- Risk factors. --- Diagnosis

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This book contains the contribution to the 37th Hemophilia Symposium, Hamburg 2006. The main topics are epidemiolgy, treatment of inhibitors in hemophiliacs, hemophilic arthropathy and synovitis, relevant hemophilia treatment 2006, and pediatric hemostasiology. The volume is rounded off by numerous free papers and posters on hemophilia, casuistics, and diagnostics.

Medicine & Public Health. --- Hematology. --- Orthopedics. --- Pediatrics. --- Medicine. --- Médecine --- Hématologie --- Orthopédie --- Pédiatrie --- Hemofilie --- Hemophilia -- Congresses. --- Hemophilia A -- Congresses. --- Hemophilia B -- Congresses. --- von Willebrand Diseases -- Congresses. --- Hemophilia --- Blood Coagulation Disorders, Inherited --- Genetic Diseases, X-Linked --- Hemorrhagic Disorders --- Coagulation Protein Disorders --- Blood Coagulation Disorders --- Genetic Diseases, Inborn --- Hematologic Diseases --- Hemic and Lymphatic Diseases --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Diseases --- Hemophilia B --- Hemophilia A --- Medicine --- Health & Biological Sciences --- Pathology --- Paediatrics --- Pediatric medicine --- Children --- Orthopaedics --- Orthopedia --- Surgery --- Haematology --- Internal medicine --- Blood --- Health and hygiene

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La consapevolezza che l’atopia sia l’espressione di una più facile suscettibilità della cute e delle mucose (oculari, respiratorie, digestive) agli agenti esterni in senso lato, porta alla logica conseguenza che i professionisti della salute che se ne debbano occupare siano vari e necessariamente coordinati. La nozione di atopia allarga il concetto tradizionale di allergia, perché in molti pazienti atopici non sono dimostrabili le classiche alterazioni immunologiche dell’allergia. Questi due fatti hanno quindi portato alla creazione di Dipartimenti dell’Atopia nelle strutture sanitarie di vari paesi. Lo scopo di questa pubblicazione è quello di "tradurre" e schematizzare gli argomenti svolti in maniera accademica nella prima edizione della Scuola dell’atopia e che si sono condensati nel testo omonimo. Questo libro, invece, si propone di essere uno strumento sintetico e di rapida consultazione, destinato a chi si confronta con questi pazienti nel quotidiano: medico, pediatra di base, infermiere o farmacista. Il libro comprende un atlante fotografico cronologico ed annotato delle principali manifestazioni dell’atopia cui segue la sezione degli algoritmi commentati su ciascuno dei principali capitoli. La terza parte, infine, offre un elenco critico dei "prodotti" per l’atopia disponibili in Italia ed include, oltre ai farmaci topici, una selezione dei dermocosmetici utili nella gestione dei questi pazienti.

Atopic dermatitis. --- Eczéma constitutionnel --- Dermatitis, Atopic. --- Medicine. --- Dermatitis, Atopic --- Skin Diseases, Eczematous --- Skin Diseases, Genetic --- Hypersensitivity, Immediate --- Dermatitis --- Skin Diseases --- Hypersensitivity --- Genetic Diseases, Inborn --- Skin and Connective Tissue Diseases --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Immune System Diseases --- Diseases --- Dermatology --- Medicine --- Health & Biological Sciences --- Allergy. --- Dermatology. --- Immunology. --- Clinical sciences --- Medical profession --- Immunobiology --- Allergic diseases --- Allergies --- Immediate allergy --- Immediate hypersensitivity --- Medicine & Public Health. --- Allergology. --- Human biology --- Life sciences --- Medical sciences --- Pathology --- Physicians --- Serology --- Skin --- Immunologic diseases --- Immunoglobulin E

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Suitable for those interested in laboratory diagnosis, this book describes laboratory methodology for diagnosing inborn errors of metabolism.

Biochemical genetics --Laboratory manuals. --- Metabolism, Inborn Errors --diagnosis --Laboratory Manuals. --- Metabolism, Inborn errors of --Diagnosis --Laboratory manuals. --- Molecular Biology --methods --Laboratory Manuals. --- Metabolism, Inborn errors of --- Biochemical genetics --- Biochemistry --- Publication Formats --- Investigative Techniques --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Genetics --- Genetic Diseases, Inborn --- Metabolic Diseases --- Biology --- Nutritional and Metabolic Diseases --- Publication Characteristics --- Biological Science Disciplines --- Chemistry --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Natural Science Disciplines --- Diseases --- Disciplines and Occupations --- Molecular Biology --- Diagnosis --- Metabolism, Inborn Errors --- Methods --- Laboratory Manuals --- Medicine --- Health & Biological Sciences --- Metabolic & Nutritional Diseases --- Chemical genetics --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Medicine. --- Human genetics. --- Laboratory medicine. --- Metabolic diseases. --- Pediatrics. --- Biochemistry. --- Medicine & Public Health. --- Metabolic Diseases. --- Laboratory Medicine. --- Biochemistry, general. --- Human Genetics. --- Molecular genetics --- Genetic disorders --- Metabolism --- Disorders --- Medical laboratories. --- Paediatrics --- Pediatric medicine --- Children --- Heredity, Human --- Human biology --- Physical anthropology --- Biological chemistry --- Chemical composition of organisms --- Organisms --- Physiological chemistry --- Medical sciences --- Diagnosis, Laboratory --- Health facilities --- Laboratories --- Disorders of metabolism --- Metabolic diseases --- Metabolic disorders --- Metabolism, Disorders of --- Health and hygiene --- Composition --- Clinical medicine --- Clinical pathology --- Diagnostic laboratory tests --- Laboratory diagnosis --- Laboratory medicine --- Medical laboratory diagnosis --- Pathology