Genetic diseases

Xem 1-20 trên 354 kết quả Genetic diseases
  • 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).

    pdf2781p mientrung102 30-01-2013 39 22   Download

  • Harrison's Internal Medicine Chapter 79. Cancer Genetics Cancer Is a Genetic Disease Cancer arises through a series of somatic alterations in DNA that result in unrestrained cellular proliferation. Most of these alterations involve actual sequence changes in DNA (i.e., mutations). They may arise as a consequence of random replication errors, exposure to carcinogens (e.g., radiation), or faulty DNA repair processes. While most cancers arise sporadically, familial clustering of cancers occurs in certain families that carry a germline mutation in a cancer gene.

    pdf5p konheokonmummim 03-12-2010 34 4   Download

  • 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.

    pdf352p dontetvui 21-01-2013 21 3   Download

  • Transmission of Genetic Disease Origins and Types of Mutations A mutation can be defined as any change in the primary nucleotide sequence of DNA regardless of its functional consequences. Some mutations may be lethal, others are less deleterious, and some may confer an evolutionary advantage. Mutations can occur in the germline (sperm or oocytes); these can be transmitted to progeny. Alternatively, mutations can occur during embryogenesis or in somatic tissues.

    pdf5p konheokonmummim 03-12-2010 32 3   Download

  • 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.

    pdf0p mnemosyne75 02-02-2013 13 3   Download

  • Transcriptional Activation and Repression Every gene is controlled uniquely, whether in its spatial or temporal pattern of expression or in its response to extracellular signals. It is estimated that transcription factors account for ~30% of expressed genes. A growing number of identified genetic diseases involve transcription factors (Table 62-2). The MODY (maturity-onset diabetes of the young) disorders are representative of this group of diseases; mutations in several different islet cell–specific transcription factors cause various forms of MODY (Chap. 338).

    pdf5p konheokonmummim 03-12-2010 27 2   Download

  • Transgenic Mice as Models of Genetic Disease Several organisms have been studied extensively as genetic models, including Mus musculus (mouse), Drosophila melanogaster (fruit fly), Caenorhabditis elegans (nematode), Saccharomyces cerevisiae (baker's yeast), and Escherichia coli (colonic bacterium). The ability to use these evolutionarily distant organisms as genetic models that are relevant to human physiology reflects a surprising conservation of genetic pathways and gene function.

    pdf6p konheokonmummim 03-12-2010 37 2   Download

  • Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Critical Care giúp cho các bạn có thêm kiến thức về ngành y học đề tài: Protein interactions in human genetic diseases...

    pdf12p coxanh_8 05-11-2011 17 1   Download

  • The ATP-binding cassette (ABC) transporters are a superfamily of mem-brane proteins that are best known for their ability to transport a wide variety of exogenous and endogenous substances across membranes against a concentration gradient via ATP hydrolysis.

    pdf20p cosis54 09-12-2012 29 1   Download

  • Science arises from the very human desire to understand and control the world. Over the course of history, we humans have gradually built up a grand edifice of knowledge that enables us to predict, to varying extents, the weather, the motions of the planets, solar and lunar eclipses, the courses of diseases, the rise and fall of economic growth, the stages of language development in children, and a vast panorama of other natural, social, and cultural phenomena. More recently we have even come to understand some fundamental limits to our abilities to predict.

    pdf162p tailieuvip13 19-07-2012 30 11   Download

  • Population Screening Mass genetic screening programs require tests of high enough sensitivity and specificity to be cost-effective. An effective screening program should fulfill the following criteria: that the tested disorder is prevalent and serious; that it can be influenced presymptomatically through lifestyle changes, screening, or medications; and that identification of risk does not result in undue discrimination or harm.

    pdf5p konheokonmummim 03-12-2010 39 11   Download

  • Inflammatory bowel disease research is changing. Progress in defining and treating these diseases is advancing in lock step with the furious pace of technological advances that continue to refine the tools of discovery. With sequencing of the entire genome completed, genetics research is providing direction for molecular and immunological in vivo and in vitro investigation, which in turn directs the development of targeted therapeutics.

    pdf761p hyperion75 18-01-2013 33 10   Download

  • Harrison's Internal Medicine Chapter 64. The Practice of Genetics in Clinical Medicine Implications of Molecular Genetics for Internal Medicine The field of medical genetics has traditionally focused on chromosomal abnormalities (Chap. 63) and Mendelian disorders (Chap. 62). However, there is genetic susceptibility to many common adult-onset diseases, including atherosclerosis, cardiac disorders, asthma, hypertension, autoimmune diseases, diabetes mellitus, macular degeneration, Alzheimer's disease, psychiatric disorders, and many forms of cancer.

    pdf5p konheokonmummim 03-12-2010 45 9   Download

  • 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.

    pdf6p konheokonmummim 03-12-2010 39 9   Download

  • In a Global scenario, economically progressive nations have developed medical sciences. But still it lacks precise information during the enhancement of potent drugs to combat ailment, which is the legacy of the organisms that generate diseases. Rising countries had long been perceived the threat, which at times, down the lane has been the major factor for magnanimous economic disaster and human poverty. Lot of resources was put into force by the world community to abscond the microbial fauna and genetically inherited diseases to contain them within the safe limits.

    pdf454p wqwqwqwqwq 20-07-2012 34 8   Download

  • Tham khảo sách 'novel insights on chronic kidney disease, acute kidney injury and polycystic kidney disease', y tế - sức khoẻ, y học thường thức phục vụ nhu cầu học tập, nghiên cứu và làm việc hiệu quả

    pdf144p wqwqwqwqwq 21-07-2012 40 8   Download

  • The epidemiology of infectious diseases is one of the great triumphs of applied ecology. In particular, the public health importance of parasites has lead to a large literature, exploring their impact on the population dynamics, population genetics and evolutionary biology of human populations. An important milestone was the Dahlem Conference on population biology of infectious diseases, held in 1981. The resulting book (Anderson and May 1982) lucidly summarised the contemporary state of parasite ecology and epidemiology.

    pdf534p camchuong_1 11-12-2012 31 8   Download

  • Molecular analysis is generally more informative if testing is initiated in a symptomatic family member, since the identification of a mutation can direct the testing of other at-risk family members (whether they are symptomatic or not). In the absence of additional familial or environmental risk factors, individuals who test negative for the mutation found in the affected family member can be informed that they are at general population risk for that particular disease. Furthermore, they can be reassured that they are not at risk for passing on the mutation to their children.

    pdf6p konheokonmummim 03-12-2010 56 7   Download

  • Many disorders exhibit the feature of locus heterogeneity, which refers to the fact that mutations in different genes can cause phenotypically similar disorders. For example, osteogenesis imperfecta (Chap. 357), long QT syndrome (Chap. 226), muscular dystrophy (Chap. 382), homocystinuria (Chap. 358), retinitis pigmentosa (Chap. 29), and hereditary predisposition to colon cancer (Chap. 87) or breast cancer (Chap. 86) can each be caused by mutations in distinct genes.

    pdf5p konheokonmummim 03-12-2010 46 6   Download

  • 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.

    pdf10p konheokonmummim 03-12-2010 43 6   Download

CHỦ ĐỀ BẠN MUỐN TÌM

Đồng bộ tài khoản