Genetic disorders

Xem 1-20 trên 167 kết quả Genetic disorders
  • Tham khảo sách 'the gale encyclopedia of genetic disorders i', y tế - sức khoẻ, y học thường thức phục vụ nhu cầu học tập, nghiên cứu và làm việc hiệu quả

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  • Tham khảo sách 'the gale genetic disorders volume of 2 m-z', y tế - sức khoẻ, y học thường thức phục vụ nhu cầu học tập, nghiên cứu và làm việc hiệu quả

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  • Readable, well organized, and easy to use, this outstanding encyclopedia signifies a timely and major advance in providing in-depth and comprehensive coverage of medical genetics for the lay reader. The two volumes include nearly 400 substantive entries on genetic diseases and conditions as well as information on basic genetics concepts such as DNA, chromosomes, genetic testing, and pedigree analysis and construction (genetic family history).

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  • Human genetics is the medical field with the most rapid and, one can say, overwhelming progress. The medical practitioner constantly needs to be up-to-date on the newest developments in his field. The diversity and rapid dynamics of advancements in genetics can sometimes overcome the assimilation possibilities of one person; thus, overspecialization for narrowing and deepening the research focus is needed. Consequently, expert opinion is much valued. This book aims to provide exactly such opinions regarding several genetic diseases.

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  • I wrote the first edition of this book more than 20 years ago, and the discoveries in genetics since then have been phenomenal. The new knowledge and applications of human genetics to health and to society have made it even more necessary that nurses "think genetically" in their practice and, indeed in their lives. Genetic factors can be responsible in some way for both direct and indirect disease causation; for variation that determines predisposition, susceptibility, and resistance to disease and also for response to therapeutic management.

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  • Tham khảo sách 'genetic disorders', y tế - sức khoẻ, y học thường thức phục vụ nhu cầu học tập, nghiên cứu và làm việc hiệu quả

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  • Follow-Up Care after Testing Depending on the nature of the genetic disorder, posttest interventions may include (1) cautious surveillance and appropriate health care screening, (2) specific medical interventions, (3) chemoprevention, (4) risk avoidance, and (5) referral to support services. For example, patients with known pathologic mutations in BRCA1 or BRCA2 are offered intensive screening as well as the option of prophylactic mastectomy and oophorectomy.

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  • Therapeutic Interventions Based on Genetic Risk for Disease Specific treatments are now available for an increasing number of genetic disorders, whether identified through population-based screening or directed testing (Table 64-2). Although the strategies for therapeutic interventions are best developed for childhood hereditary metabolic diseases, these principles are making their way into the diagnosis and management of adult-onset disorders. Hereditary hemochromatosis illustrates many of the issues raised by the availability of genetic screening in the adult population.

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  • Epidemiology Hemoglobinopathies are especially common in areas in which malaria is endemic. This clustering of hemoglobinopathies is assumed to reflect a selective survival advantage for the abnormal RBC, which presumably provide a less hospitable environment during the obligate RBC stages of the parasitic life cycle. Very young children with αthalassemia are more susceptible to infection with the nonlethal Plasmodium vivax. Thalassemia might then favor a natural protection against infection with the more lethal P. falciparum.

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  • Tham khảo tài liệu 'the gale genetic disorders of encyclopedia vol 2 - part 1', y tế - sức khoẻ, y học thường thức phục vụ nhu cầu học tập, nghiên cứu và làm việc hiệu quả

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  • (BQ) Part 1 book "Diagnostic imaging spine" presentation of content: Congenital and genetic disorders, scoliosis and kyphosis, vertebral column, discs, and paraspinal muscle, cord, dura, and vessels, degenerative diseases, spondylolisthesis and spondylolysis, inflammatory, crystalline, and miscellaneous arthritides.

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  • Table 62-1 Selected Databases Relevant for Genomics and Genetic Disorders Site URL Comment National Center Biotechnology Information (NCBI) for http://www.ncbi.nlm.nih.gov/ Molecular biology information, public databases, computational Site URL Comment biology. for Software analyzing genome data. Extensive links to other databases, genome resources, tutorials and National Human Genome http://www.genome.gov/ Web providing links Research Institute information about the human genome sequence, genomes of other organisms, and research genomic ...

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  • Complex Genetic Disorders The expression of many common diseases such as cardiovascular disease, hypertension, diabetes, asthma, psychiatric disorders, and certain cancers is determined by a combination of genetic background, environmental factors, and lifestyle. A trait is called polygenic if multiple genes contribute to the phenotype or multifactorial if multiple genes are assumed to interact with environmental factors. Genetic models for these complex traits need to account for genetic heterogeneity and interactions with other genes and the environment.

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  • DNA testing is performed by mutational analysis or linkage studies in individuals at risk for a genetic disorder known to be present in a family. Mass screening programs require tests of high sensitivity and specificity to be costeffective. Prerequisites for the success of genetic screening programs include the following: that the disorder is potentially serious; that it can be influenced at a presymptomatic stage by changes in behavior, diet, and/or pharmaceutical manipulations; and that the screening does not result in any harm or discrimination.

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  • Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Singling out genetic disorders and disease

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  • Microdeletion Syndromes The term contiguous gene syndrome refers to genetic disorders that mimic a combination of single-gene disorders. They result from the deletion of a small number of tightly clustered genes. Because some are too small to be detected cytogenetically, they are termed microdeletions. The application of molecular techniques has led to the identification of at least 18 of these microdeletion syndromes (Table 63-4). Some of the more common ones include the Wilms' tumor–aniridia complex (WAGR), Miller Dieker syndrome (MDS), and velocardiofacial (VCF) syndrome.

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  • (BQ) Part 1 book "Pathology - The big picture series" presentation of content: Cellular pathology, inflammation and repair, pathology of the immune system, environmental and nutritional pathology, genetic disorders, pediatric pathology, hemodynamics, vascular pathology,... and other contents.

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  • (BQ) Part 1 book "Robbins and cotran review of pathology" presentation of content: Cellular pathology, inflammation and repair, hemodynamic disorders, genetic disorders, immune system diseases, neoplastic disorders, infectious diseases, environmental and nutritional diseases,... and other contents.

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  • (BQ) Part 1 book "BRS Pathology" presents the following contents: Cellular reaction to injury, inflammation, hemodynamic dysfunction, genetic disorders, immune dysfunction, neoplasia, environmental pathology, nutritional disorders, vascular system, the heart, anemia, neoplastic and proliferative disorders of the hematopoietic and lymphoid systems.

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  • (BQ) Part 2 book "Requisites in dermatology - Pediatric dermatology" presents the following contents: Drug eruptions and inflammatory eruptions of the skin; Pigmentary disorders - white spots, brown spots and other dyschromias, Lumps and bumps, skin conditions in newborns and infants, genetic disorders of the skin, disorders of hair and nails, The skin in systemic disease

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