Clinical genetics

Xem 1-20 trên 170 kết quả Clinical genetics
  • Tham khảo sách 'retinoblastoma – an update on clinical, genetic counseling, epidemiology and molecular tumor biology edited by govindasamy kumaramanickavel', y tế - sức khoẻ, y học thường thức phục vụ nhu cầu học tập, nghiên cứu và làm việc hiệu quả

    pdf180p xumxaxumxit 13-04-2013 21 3   Download

  • For otolaryngology–head and neck surgeons in training as residents and fellows, it is a difficult task to keep up with all of the advances in the basic and clinical sciences that impact the medical and surgical practice of their specialty. It is also pertinent to the practice of otolaryngology–head and neck surgery for interested medical students and lecturers in medical school faculties who teach students and resident physicians to have a reference book that clearly presents the basic principles.

    pdf785p hyperion75 18-01-2013 30 13   Download

  • The speciality of medical genetics is concerned with the study of human biological variation and its relationship to health and disease. It encompasses mechanisms of inheritance, cytogenetics, molecular genetics and biochemical genetics as well as formal, statistical and population genetics. Clinical genetics is the branch of the specialty involved with the diagnosis and management of genetic disorders affecting individuals and their families.

    pdf129p maket1311 16-10-2012 25 5   Download

  • Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Relevance of JAK2V617F positivity to hematological diseases - survey of samples from a clinical genetics laboratory...

    pdf6p thulanh25 06-12-2011 15 4   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 12 3   Download

  • (BQ) Part 1 book "Muir's textbook of pathology" presents the following contents: Applications of pathology, normal cellular functions, disease and immunology; clinical genetics, cancer and benign tumour, the cardiovascular system, the respiratory system, the lymphoreticular system and bone marrow, the gastrointestinal system,...

    pdf285p thangnamvoiva5 14-07-2016 2 1   Download

  • How drugs act and interact, how they enter the body, what happens to them inside the body, how they are eliminated from it; the effects of genetics, age, and disease on drug action — these topics are important for, although they will generally not be in the front of the conscious mind of the prescriber, an understanding of them will enhance rational decision taking. Knowledge of the requirements for success and the explanations for failure and for adverse events will enable the doctor to maximise the benefits and minimise the risks of drug therapy. Pharmacodynamics.

    pdf15p bigbaby87 03-09-2010 75 23   Download

  • 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 35 20   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 37 11   Download

  • Isolated blunt abdominal trauma (BAT) represents about 5% of annual trauma mortality from blunt trauma. As part of multiple-site injury (polytrauma), BAT contributes another 15% of trauma mortality. In the abdominal trauma, the best exploration strategy is one that leads most quickly and reliably in the diagnosis of surgical injury. This strategy must be established based on hemodynamic status and clinical guidance but should never delay a therapeutic homeostasis.

    pdf472p kmkmkmkmkm 10-09-2012 28 10   Download

  • Neoplastic disease In most cases, the cause of cancer is multifactorial. About 75% of cancers are due to environmental factors, some of which are within the control of the individual, e.g. tobacco smoking, exposure to sunlight. Growing understanding of cancer genetics and inherited disease suggests that fewer than 10% of cancers are familial.The different systemic modalities used to treat cancer patients are discussed. Immunosuppressive drugs are described here as they share many characteristics with cytotoxics. ...

    pdf19p bigbaby87 03-09-2010 46 9   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 42 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 37 9   Download

  • 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

    pdf691p mientrung102 30-01-2013 23 8   Download

  • While history and examination will always remain the foundation of neurolog- ical diagnosis, MRI and CT have now become the most important diagnostic tests used by neurologists and neurosurgeons. These tests are critical not only for confirming clinical diagnosis, but in many cases will give additional infor- mation absolutely essential to patient care. Modern clinical diagnosis and treat- ment of central nervous system disorders relies heavily upon neuroimaging. In some cases, the optimal management of clinical problems affecting patients with brain tumors, strokes, etc.

    pdf187p layon_5 30-03-2013 20 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 41 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 37 6   Download

  • Adjusting Drug Dosages While elimination half-life determines the time required to achieve steadystate plasma concentrations (Css), the magnitude of that steady state is determined by clearance (Cl) and dose alone.

    pdf6p tubreakdance 26-11-2010 48 5   Download

  • Principles of Genetic Variation and Human Traits (See also Chaps. 62 and 64) Variants in the human genome resulting in variation in level of expression or function of molecules important for pharmacokinetics and pharmacodynamics are increasingly recognized. These may be mutations (very rare variants, often associated with disease) or polymorphisms, variants that are much more common in a population. Variants may occur at a single nucleotide [known as single nucleotide polymorphism (SNP)] or involve insertion or deletion of one or more nucleotides.

    pdf6p tubreakdance 26-11-2010 47 5   Download

  • Inherited mitochondrial disorders are transmitted in a matrilineal fashion; all children from an affected mother will inherit the disease, but it will not be transmitted from an affected father to his children (Fig. 62-11D ). Alterations in the mtDNA affecting enzymes required for oxidative phosphorylation lead to reduction of ATP supply, generation of free radicals, and induction of apoptosis. Several syndromic disorders arising from mutations in the mitochondrial genome are known in humans and they affect both protein-coding and tRNA genes (Table 62-1 and Table 62-5).

    pdf5p konheokonmummim 03-12-2010 31 5   Download

Đồng bộ tài khoản