The practice of genetics

The article develops a novel framework for Multidisciplinary Design Optimization of aircraft wing. Practically, the study implements a high-fidelity fluid/structure analyses and accurate optimization codes to obtain the wing with best performance.

14p vifilm 24-09-2024 1 1   Download

Patients with pathogenic sequence variants (PSVs) in BRCA1/BRCA2 are at high risk of developing ovarian cancer (OC). However, genetic testing for BRCA1/BRCA2 PSVs is still not a routine practice in the Middle East. With the lack of epidemiological studies in the region, we aim to describe the prevalence of BRCA1/BRCA2 PSVs in patients with OC across diferent countries in the Gulf region.

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The main purpose of the study was to determine the adoption of selected ecological agricultural practices by the farmers and the factors influencing the adoption in district Kanpur Dehat. Two blocks were selected randomly from the district and three villages were selected on random basis from each block, thus a total of six villages were selected from two blocks, 20 respondents were randomly selected from each village thus a total of 120 respondents in total were interviewed on a structural schedule.

8p gaocaolon9 22-12-2020 11 2   Download

Inheritance is the practice of passing on property, titles, debts, rights and obligations upon the death of an individual. It represents also to pass a characteristic, genetically. It has long played an important role in human societies. The rules of inheritance differ between societies and have changed over time.

31p trada85 20-01-2013 40 4   Download

Gene therapy offers many conceptual advantages to treat muscle diseases, especially various forms of muscular dystrophies. Many of these diseases are caused by a single gene mutation. While the traditional approaches may ameliorate some symptoms, the ultimate cure will depend on molecular correction of the genetic defect. The clinical feasibility of gene therapy has been recently demonstrated in treatment of a type of inherited blindness. By delivering a therapeutic gene to the retina, investigators were able to partially recover the vision in a disease once thought incurable.

397p maket1311 16-10-2012 63 4   Download

These guidelines are based on two performance evaluation CARD Project 032/05 "sustainability and profitability of acacia plantations for sawlog production in Vietnam". • Evaluation of genetic resources and ACACIA propagation method supports sawlog production in Vietnam (November 2006) • The effect of management practices and forest site productivity short-rotation plantation Acacia in Vietnam - a Review (January 200

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Preventive measures and therapeutic interventions are not restricted to metabolic disorders. Identification of familial forms of long QT syndrome, associated with ventricular arrhythmias, allows early electrocardiographic testing and the use of prophylactic antiarrhythmic therapy, overdrive pacemakers, or defibrillators (Chap. 226). Individuals with familial hypertrophic cardiomyopathy can be screened by ultrasound, treated with beta blockers or other drugs, and counseled about the importance of avoiding strenuous exercise and dehydration (Chap. 231).

4p konheokonmummim 03-12-2010 75 5   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.

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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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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.

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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.

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Recall of family history is often inaccurate. This is especially so when the history is remote and families become more dispersed geographically. It can be helpful to ask patients to fill out family history forms before or after their visits, as this provides them with an opportunity to contact relatives. Attempts should be made to confirm the illnesses reported in the family history before making important and, in certain circumstances, irreversible management decisions.

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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.

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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.

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Harrison's Internal Medicine Chapter 62. Principles of Human Genetics Impact of Genetics on Medical Practice Impact of Genetics on Medical Practice: Introduction The beginning of the new millennium was marked by the announcement that the vast majority of the human genome had been sequenced. This milestone in the exploration of the human genome was preceded by numerous conceptual and technological advances.

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Medical Ethics and New Technologies The rapid pace of technological advances has profound implications for medical applications far beyond their traditional roles to prevent, treat, and cure disease. Cloning, genetic engineering, gene therapy, human-computer interfaces, nanotechnology, and designer drugs have the potential to modify inherited predispositions to disease, select desired characteristics in embryos, augment "normal" human performance, replace failing tissues, and substantially prolong life span.

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The Twenty-First Century Physician: Expanding Frontiers The Era of Genomics In the spring of 2003, the complete sequencing of the human genome was announced, officially ushering in the genomic era. However, even before this landmark accomplishment, the practice of medicine had been evolving as a result of the insights gained from an understanding of the human genome as well as the genomes of a wide variety of microbes, whose genetic sequences were becoming widely available as a result of the breathtaking advances in sequencing techniques and informatics.

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