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Sample records for genetics medical

  1. Quo Vadis, Medical Genetics?

    Science.gov (United States)

    Czeizel, Andrew E.

    The beginning of human genetics and its medical part: medical genetics was promising in the early decades of this century. Many genetic diseases and defects with Mendelian origin were identified and it helped families with significant genetic burden to limit their child number. Unfortunately this good start was shadowed by two tragic events. On the one hand, in the 1930s and early 1940s the German fascism brought about the dominance of an unscientific eugenics to mask vile political crimes. People with genetic diseases-defects were forced to sterilisation and several of them were killed. On the other hand, in the 1950s lysenkoism inhibitied the evolution of genetics in the Soviet Union and their satelite countries. Lysenko's doctrine declared genetics as a product of imperialism and a guilty science, therefore leading geneticists were ousted form their posts and some of them were executed or put in prison. Past decades genetics has resulted fantastic new results and achieved a leading position within the natural sciences. To my mind, however, the expected wider use of new eugenics indicates a new tragedy and this Cassandra's prediction is the topic of this presentation.

  2. Medical genetics in Paraguay.

    Science.gov (United States)

    Ascurra de Duarte, Marta

    2004-01-01

    Paraguay is a developing country with low levels of health coverage, with 81% of the population without health insurance, a proportion that reaches 98.1% among the poor, 93% among the rural population and 91.7% among the mainly Guarani-speaking population. The infant mortality rate is 19.4 per 1,000, although there is gross under-reporting. Maternal mortality rate is alarmingly high at 110.9 per 100,000 livebirths, reaching 420.5 in rural areas. There are only two clinical geneticists and four biochemists trained in human genetics, and virtually all genetic services in the country are concentrated in the 'Instituto de Investigaciones en Ciencias de la Salud' (IICS) from the National University. The teaching of medical genetics in medical schools is included in physiology and pathology courses, while at the postgraduate level, training in medical genetics is limited to pediatrics and gynecology. In 1999, a pilot newborn screening program was initiated to determine the frequency of congenital hypothyroidism and phenylketonuria and to provide early treatment for affected babies. Another pilot project recently launched by the Ministry of Health is the Program for the Prevention of Neural Tube Defects, mandating folic acid fortification of flour, but as of the end of 2003 it had not been implemented. Paraguay lacks adequate resources to provide accurate diagnoses and treatment of genetic conditions.

  3. MEDICAL GENETICS AND ETHICS

    Directory of Open Access Journals (Sweden)

    Vladimir TRAJKOVSKI

    1999-05-01

    Full Text Available Fast development of medical genetics and it’s subdisciplines is noticed in last thirty years. Modern diagnostic methods made possible to establish human genome and its impairment. In human genetics, ethic is main principle in working. Ethic is science about biggest goodness for human or society, and its aim pro­tecting human health.Today's conditions for leaving and science development open a wide way for ethical approaches, but also for non-ethical manipulations with human even before his conception. We must keep to attitude that without law, with our behavior will must conduct our conscience. It is best to have neutral eugenetic attitude, which allows free ethical choice of each individual, in any case, for the well being of man.

  4. Medical Genetics Is Not Eugenics

    Science.gov (United States)

    Cowan, Ruth Schwartz

    2008-01-01

    The connection that critics make between medical genetics and eugenics is historically fallacious. Activists on the political right are as mistaken as activists on the political left: Genetic screening was not eugenics in the past, is not eugenics in the present, and, unless its technological systems become radically transformed, will not be…

  5. Genetic engineering, medicine and medical genetics.

    Science.gov (United States)

    Motulsky, A G

    1984-01-01

    The impact of DNA technology in the near future will be on the manufacture of biologic agents and reagents that will lead to improved therapy and diagnosis. The use of DNA technology for prenatal and preclinical diagnosis in genetic diseases is likely to affect management of genetic diseases considerably. New and old questions regarding selective abortion and the psychosocial impact of early diagnosis of late appearing diseases and of genetic susceptibilities are being raised. Somatic therapy with isolated genes to treat disease has not been achieved. True germinal genetic engineering is far off for humans but may find applications in animal agriculture.

  6. Genetics: A New Landscape for Medical Geography.

    Science.gov (United States)

    Carrel, Margaret; Emch, Michael

    2013-01-01

    The emergence and re-emergence of human pathogens resistant to medical treatment will present a challenge to the international public health community in the coming decades. Geography is uniquely positioned to examine the progressive evolution of pathogens across space and through time, and to link molecular change to interactions between population and environmental drivers. Landscape as an organizing principle for the integration of natural and cultural forces has a long history in geography, and, more specifically, in medical geography. Here, we explore the role of landscape in medical geography, the emergent field of landscape genetics, and the great potential that exists in the combination of these two disciplines. We argue that landscape genetics can enhance medical geographic studies of local-level disease environments with quantitative tests of how human-environment interactions influence pathogenic characteristics. In turn, such analyses can expand theories of disease diffusion to the molecular scale and distinguish the important factors in ecologies of disease that drive genetic change of pathogens.

  7. Medical Doctors Perceptions of Genetically Modified Foods

    Directory of Open Access Journals (Sweden)

    Hasan Savas

    2014-12-01

    Full Text Available Aim: Recombinant DNA and with similar technical changes made on genes or transferred isolated gene the living organisms have been named genetically modified organisms (GMOs. Thanks to advances in genetic technology, the advancement of enzyme and fermentation techniques result obtained by the use of GMOs in food industry products of genetically modified (GM foods are named. In this study, GM foods about the possible harmful effects have information and community advice on this matter to be medical doctors on this issue perceptions, knowledge, attitudes and behaviors aimed to measure.Material and Method: The study was made on including 200 medical doctors aged 23-65, 118 men (59%, 82 women (41%. In the statistical analysis based on the responses of medical doctors, against GM food risk perception, knowledge, attitudes and behaviors were assessed. Results: 80.5% of the participants’ think that GM foods are harmful. 22% of the participants were expressed that their knowledge are ‘’good’’ and ‘’very good’’ about GM food. While 38% of the participants use internet and 23.5% of the participants  use media, only 4.5% of the participants use medical schools as a source of sufficient information about GM foods. Discussion: While the risk perception of medical doctors about GM foods is high, the knowledge on this issue is observed low. Though the consumption and the prevelance of GM foods are increasing, medical doctors should have more information about this issue to enlighten and guide the community.

  8. Cytogenetics and the evolution of medical genetics.

    Science.gov (United States)

    Ferguson-Smith, Malcolm A

    2008-08-01

    Interest in cytogenetics may be traced to the development of the chromosomal theory of inheritance that emerged from efforts to provide the basis for Darwin's theory "On the origin of species by means of natural selection." Despite their fundamental place in biology, chromosomes and genetics had little impact on medical practice until the 1960s. The discovery that a chromosomal defect caused Down syndrome was the spark responsible for the emergence of medical genetics as a clinical discipline. Prenatal diagnosis of trisomies, biochemical disorders, and neural tube defects became possible and hence the proliferation of genetic counseling clinics. Maternal serum screening for neural tube defects and Down syndrome followed, taking the new discipline into social medicine. Safe amniocentesis needed ultrasound, and ultrasound soon found other applications in obstetrics, including scanning for fetal malformations. Progress in medical genetics demanded a gene map, and cytogeneticists initiated the mapping workshops that led to the human genome project and the complete sequence of the human genome. As a result, conventional karyotyping has been augmented by molecular cytogenetics, and molecular karyotyping has been achieved by microarrays. Genetic diagnosis at the level of the DNA sequence is with us at last. It has been a remarkable journey from disease phenotype to karyotype to genotype, and it has taken <50 years. Our mission now is to ensure that the recent advances such as prenatal screening, microarrays, and noninvasive prenatal diagnosis are available to our patients. History shows that it is by increased use that costs are reduced and better methods discovered. Chromosome research has been behind the major advances in our field, and it will continue to be the key to future progress, not least in our appreciation of chromosomal variation and its importance as a mechanism in Darwinian evolution.

  9. [A preliminary exploration into medical genetics teaching to international students].

    Science.gov (United States)

    Chen, Cao-Yi; Zhao, Xiang-Qiang; Xie, Xiao-Ling; Tan, Xiang-Ling

    2008-12-01

    Medical education to international students has become an important part of higher education in China. Medical genetics is an essential and required course for international medical students. However, the internationalization of higher education in China has challenged the traditional teaching style of medical genetics. In this article, we discussed current situation and challenges in medical genetics teaching to international students, summarized special features and problems we encountered in teaching Indian students, and proposed some practical strategies to address these challenges and to improve the teaching.

  10. Medical genetics teaching in Iranian medical schools, especially Ahvaz, south of Iran

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    MAHDI BIJANZADEH

    2014-04-01

    Full Text Available Introduction: Physicians have to visit, diagnose and refer patients with genetic disorders, so they need to be familiar with the basics and indications of genetic tests. In other words, they should have effective theoretical and practical knowledge about medical genetics before they do their job. Medical genetics courses at Medical Universities of Iran are generally presented as a theoretical subject in the first period of medical education. Methods: In this descriptive research, the results of interviews with teachers of medical genetics in 30 medical schools in Islamic Republic of Iran and responses to a questionnaire by 125 medical students of Ahvaz Jundishapur University of medical sciences, about presentation time, curricula and also efficacy of medical genetics courses were analyzed. The interviews with teachers were done on phone and the students’ comments were collected by a researcher-made questionnaire. The data were analyzed, using SPSS software, version 14. Results: In two thirds of medical universities, medical genetics is taught in the third or fourth semester and in 5 universities in the fifth semester. 86% of the students believed that the quality of genetics courses is moderate and such courses are same as clinical manifestation of genetic disorders are benefitial to medical students. Conclusion: This article suggests that medical genetics be offered in the second or third period of medical education (physiopathology or stagger period. Furthermore, in teaching such courses advanced educational methods (animation presentation, case-based learning, problem-based learning, etc. should be used, together with simple genetic tests in laboratories, the visit of genetic patients in hospitals, and the genetics consult.

  11. Medical genetics teaching in Iranian medical schools, especially Ahvaz, south of Iran

    Science.gov (United States)

    BIJANZADEH, MAHDI

    2014-01-01

    Introduction: Physicians have to visit, diagnose and refer patients with genetic disorders, so they need to be familiar with the basics and indications of genetic tests. In other words, they should have effective theoretical and practical knowledge about medical genetics before they do their job. Medical genetics courses at Medical Universities of Iran are generally presented as a theoretical subject in the first period of medical education. Methods: In this descriptive research, the results of interviews with teachers of medical genetics in 30 medical schools in Islamic Republic of Iran and responses to a questionnaire by 125 medical students of Ahvaz Jundishapour University of medical sciences, about presentation time, curricula and also efficacy of medical genetics courses were analyzed. The interviews with teachers were done on phone and the students’ comments were collected by a researcher-made questionnaire. The data were analyzed, using SPSS software, version 14.  Results: In two thirds of medical universities, medical genetics is taught in the third or fourth semester and in 5 universities in the fifth semester. 86% of the students believed that the quality of genetics courses is moderate and such courses are very beneficial to medical students. Conclusion: This article suggests that medical genetics be offered in the second or third period of medical education (physiopathology or stagger period). Furthermore, in teaching such courses advanced educational methods (animation presentation, case-based learning, problem-based learning, etc.) should be used, together with simple genetic tests in laboratories, and the visit of genetic patients in hospitals and genetics centers. PMID:25512921

  12. Tracking medical genetic literature through machine learning.

    Science.gov (United States)

    Bornstein, Aaron T; McLoughlin, Matthew H; Aguilar, Jesus; Wong, Wendy S W; Solomon, Benjamin D

    2016-08-01

    There has been remarkable progress in identifying the causes of genetic conditions as well as understanding how changes in specific genes cause disease. Though difficult (and often superficial) to parse, an interesting tension involves emphasis on basic research aimed to dissect normal and abnormal biology versus more clearly clinical and therapeutic investigations. To examine one facet of this question and to better understand progress in Mendelian-related research, we developed an algorithm that classifies medical literature into three categories (Basic, Clinical, and Management) and conducted a retrospective analysis. We built a supervised machine learning classification model using the Azure Machine Learning (ML) Platform and analyzed the literature (1970-2014) from NCBI's Entrez Gene2Pubmed Database (http://www.ncbi.nlm.nih.gov/gene) using genes from the NHGRI's Clinical Genomics Database (http://research.nhgri.nih.gov/CGD/). We applied our model to 376,738 articles: 288,639 (76.6%) were classified as Basic, 54,178 (14.4%) as Clinical, and 24,569 (6.5%) as Management. The average classification accuracy was 92.2%. The rate of Clinical publication was significantly higher than Basic or Management. The rate of publication of article types differed significantly when divided into key eras: Human Genome Project (HGP) planning phase (1984-1990); HGP launch (1990) to publication (2001); following HGP completion to the "Next Generation" advent (2009); the era following 2009. In conclusion, in addition to the findings regarding the pace and focus of genetic progress, our algorithm produced a database that can be used in a variety of contexts including automating the identification of management-related literature.

  13. Simulation based virtual learning environment in medical genetics counseling

    DEFF Research Database (Denmark)

    Makransky, Guido; Bonde, Mads T; Wulff, Julie S G;

    2016-01-01

    understanding of medical genetics, 82 % thought that medical genetics was more interesting, 93 % indicated that they were more interested and motivated, and had gained confidence by having experienced working on a case story that resembled the real working situation of a doctor, and 78 % indicated...

  14. The American College of Medical Genetics, the first 20 years.

    Science.gov (United States)

    Rimoin, David L

    2011-03-01

    The American College of Medical Genetics (ACMG) celebrates its 20th anniversary this month, having been founded in March of 1991. The ACMG has firmly established itself as a major medical association representing the needs of the many patients with genetic disorders and the expanding number of genetic clinical and laboratory professionals that strive to diagnose, treat and prevent these disorders. Over the last two decades they have had major accomplishments related to their original mission: They have become members of the American Medical Association House of Delegates and the American Board of Medical Specialists, pushed through laboratory Current Procedural Terminology codes, developed a manual for billing and reimbursement, have been active in a number of national arenas including Health and Human Services, Food and Drug Administration, Center for Disease Control, National Institutes of Health and with other professional organizations (College of American Pathologists, American College of Obstetricians and Gynecologists, American Society of Clinical Oncology). They have secured grant funding, developed major educational programs (Board courses, MOC modules, CD-ROMS), a well respected medical journal, a successful and well attended annual meeting, major relationships with industry, and have been leaders in the legal arena, challenging patents for genetic testing, etc. In the future, the tools and knowledge of medical genetics will permeate all of medicine and the ACMG should embrace, encourage and assist all of those varying medical specialists, counselors, nurses and scientists who are involved in providing genetic services.

  15. Basic concepts of medical genetics formal genetics, Part 3

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2014-05-14

    May 14, 2014 ... defects in different stages of gene function, that constitute the bases of etiological ... in the development of different categories of genetic disorders seems innumerable. This is ..... Charcot-Marie-Tooth Type 1A. 17p11.2.

  16. Basic concepts of medical genetics, formal genetics, Part 1

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2013-11-15

    Nov 15, 2013 ... The definition of formal genetics is still a matter of contention. However, it can ... tion fragment length polymorphism maps, radiation hybrid. * Tel. ... Constituent databases of structure and function of different types of RNA: messenger ... hot spots and of CG sites, sequence type and organization of promoter.

  17. Toward an Understanding of "Genetic Sociology" and Its Relationships to Medical Sociology and Medical Genetics in the Educational Enterprise

    Science.gov (United States)

    Fredericks, Marcel; Odiet, Jeff A.; Miller, Steven I.; Fredericks, Janet

    2004-01-01

    In this research, we have demonstrated that a new subdiscipline in the field of Medical Sociology is urgently needed to integrate, interpret, and synthesize the interrelationships and implications of genetic discoveries, treatments, and prognoses upon societal behavior. That subdiscipline in our view is "Genetic Sociology."We applied the…

  18. PROSPECT OF MEDICAL GENETICS IN CHINA FROM A HISTORICAL POINT OF VIEW

    Institute of Scientific and Technical Information of China (English)

    Wilson H. Y. Lo

    2008-01-01

    @@ The history of medical genetics is briefly reviewed. It is evident that medical genetics with its inseparable part, clinical genetics, started out as a clinical science from the very beginning. Its robust development in the developed countries is the result of a close interaction between the basic sciences and clinical genetics. In China, however, clinical genetics has not received due emphasis and medical genetics is still not recognized as one of the medical specialties. This is in marked contrast to the situation in the West. It is high time to acknowledge that medical genetics is a medical specialty and to promote clinical genetics service in qualified hospitals in our country.

  19. The role of social networking sites in medical genetics research.

    Science.gov (United States)

    Reaves, Allison Cook; Bianchi, Diana W

    2013-05-01

    Social networking sites (SNS) have potential value in the field of medical genetics as a means of research subject recruitment and source of data. This article examines the current role of SNS in medical genetics research and potential applications for these sites in future studies. Facebook is the primary SNS considered, given the prevalence of its use in the United States and role in a small but growing number of studies. To date, utilization of SNS in medical genetics research has been primarily limited to three studies that recruited subjects from populations of Facebook users [McGuire et al. (2009); Am J Bioeth 9: 3-10; Janvier et al. (2012); Pediatrics 130: 293-298; Leighton et al. (2012); Public Health Genomics 15: 11-21]. These studies and a number of other medical and public health studies that have used Facebook as a context for recruiting research subjects are discussed. Approaches for Facebook-based subject recruitment are identified, including paid Facebook advertising, snowball sampling, targeted searching and posting. The use of these methods in medical genetics research has the potential to facilitate cost-effective research on both large, heterogeneous populations and small, hard-to-access sub-populations.

  20. Medical and human genetics 1977: trends and directions.

    Science.gov (United States)

    Motulsky, A G

    1978-03-01

    Our field is in a rapid state of evolution. The broader concerns of human genetics not of immediate medical interest such as behavioral genetics are often investigated by persons not trained or identified as human geneticists. Both medical genetics and human genetics in general have prospered when various biologic techniques have been applied to genetic concepts. A search for novel biologic methods may provide new insights and may bridge the gulf between Mendelian and biometric approaches in studies of behavior and of common diseases. Medical geneticists need to broaden their fields of interest to encompass other fields than those of pediatric interest alone. We need to attract more basic scientists. Our field is evolving from a largely research oriented science to a service-oriented specialty. This logical development is a sign of increasing maturity and makes available to the public the results of our research. The resulting stresses and strains need careful watching to prevent their slowing the momentum of our science which can contribute continued insights into the many problems of behavior, health, and disease.

  1. The Emergence of Genetic Counseling in Sweden: Examples from Eugenics and Medical Genetics.

    Science.gov (United States)

    Björkman, Maria

    2015-09-01

    This paper examines the intertwined relations between eugenics and medical genetics from a Swedish perspective in the 1940s and 1950s. The Swedish case shows that a rudimentary form of genetic counseling emerged within eugenic practices in the applications of the Swedish Sterilization Act of 1941, here analyzed from the phenomenon of "heredophobia" (ärftlighetsskräck). At the same time genetic counseling also existed outside eugenic practices, within the discipline of medical genetics. The paper argues that a demand for genetic counseling increased in the 1940s and 1950s in response to a sense of reproductive responsibility engendered by earlier eugenic discourse. The paper also questions the claim made by theoreticians of biopolitics that biological citizens have emerged only during the last decades, especially in neoliberal societies. From the Swedish case it is possible to argue that this had already happened earlier in relation to the proliferation of various aspects of eugenics to the public.

  2. Sports genetics moving forward: lessons learned from medical research.

    Science.gov (United States)

    Mattsson, C Mikael; Wheeler, Matthew T; Waggott, Daryl; Caleshu, Colleen; Ashley, Euan A

    2016-03-01

    Sports genetics can take advantage of lessons learned from human disease genetics. By righting past mistakes and increasing scientific rigor, we can magnify the breadth and depth of knowledge in the field. We present an outline of challenges facing sports genetics in the light of experiences from medical research. Sports performance is complex, resulting from a combination of a wide variety of different traits and attributes. Improving sports genetics will foremost require analyses based on detailed phenotyping. To find widely valid, reproducible common variants associated with athletic phenotypes, study sample sizes must be dramatically increased. One paradox is that in order to confirm relevance, replications in specific populations must be undertaken. Family studies of athletes may facilitate the discovery of rare variants with large effects on athletic phenotypes. The complexity of the human genome, combined with the complexity of athletic phenotypes, will require additional metadata and biological validation to identify a comprehensive set of genes involved. Analysis of personal genetic and multiomic profiles contribute to our conceptualization of precision medicine; the same will be the case in precision sports science. In the refinement of sports genetics it is essential to evaluate similarities and differences between sexes and among ethnicities. Sports genetics to date have been hampered by small sample sizes and biased methodology, which can lead to erroneous associations and overestimation of effect sizes. Consequently, currently available genetic tests based on these inherently limited data cannot predict athletic performance with any accuracy.

  3. Ethical Challenges in Teaching Genetics for Medical Students

    Directory of Open Access Journals (Sweden)

    Erika Nagle

    2014-09-01

    Full Text Available Although inclusion of ethics as a study course in medical students' curricula is a common practice, special approaches in teaching ethics in the context of genetics should be considered. In the realm of genomics, there are several ethically sensitive topics such as diagnosis of genetic diseases, in vitro fertilization, and identification of genetic susceptibility to common diseases. In addition, in communication with the general public, genetic terms should be used with caution. Demonstration of the phenotypes of affected individuals should be regarded as a particular aspect of teaching genetics. In a description of a patient’s phenotype, not only is it necessary to provide scientifically precise characteristics of a patient; voice timbre, facial expression, and body language should also be carefully controlled. Furthermore, in medicine, the theory–practice gap is a problematic aspect, and students often find it difficult to apply knowledge on ethical issues to real situations in clinics. For this purpose, clinical cases are presented during classes and their analysis requires a very respectful attitude on the part of both students and lecturers. For many genetic diseases, evaluation of minor anomalies such as a curved fifth finger, low situated ears, or missing of some teeth is required. Some minor anomalies are found in healthy individuals too, and interpretation of such features must therefore be considered carefully. This article describes our experiences in teaching genetics at Riga Stradiņš University, ethical problems faced while teaching genetics, and their solutions.

  4. Medical genetic ethics, Islamic view and considerations in Iran

    Directory of Open Access Journals (Sweden)

    Farzaneh Zahedi

    2006-03-01

    Full Text Available The rapid progress of science and technology, including genetic research and technology has been led to new hopes in the treatment of some genetic conditions and diseases. But these developments have also raised ethical and societal concerns in different communities. Certainly, medical genetics knowledge should be applied so, we have to maximize its benefits and minimize any harm. In recent decades, many attempts have been performed by scientists, ethicists, jurisprudents and lawyers for compiling international and national guidelines for regulation and legislation in this field. "nFor compilation of this article, we searched some comprehensive electronic databases and some valid English and Farsi books and journals. In this intensive review, we intend to provide a basic knowledge about genetic ethics for health care professionals in order to facilitate their decision-making in clinical practice."nThere are various ethical issues related to medical genetics that we reviewed in this paper in brief. These key issues do need attention and urgent resolution universally. We also reviewed Islamic view of points in this regards and finally we addressed the status of genetic ethics in our country, containing new national guidelines in this field.

  5. [Research advances on medical genetics in China in 2015].

    Science.gov (United States)

    Li, Yuanfeng; Han, Yubo; Cao, Pengbo; Meng, Jinfeng; Li, Haibei; Qin, Geng; Zhang, Feng; Jin, Guangfu; Yang, Yong; Wu, Lingqian; Ping, Jie; Zhou, Gangqiao

    2016-05-01

    Steady progress has been achieved in the medical genetics in China in 2015, as numerous original researches were published in the world's leading journals. Chinese scientists have made significant contributions to various fields of medical genetics, such as pathogenicity of rare diseases, predisposition of common diseases, somatic mutations of cancer, new technologies and methods, disease-related microRNAs (miRNAs), disease-related long non-coding RNAs (lncRNAs), disease-related competing endogenous RNAs (ceRNAs), disease-related RNA splicing and molecular evolution. In these fields, Chinese scientists have gradually formed the tendency, from common variants to rare variants, from single omic analyses to multipleomics integration analyses, from genetic discovery to functional confirmation, from basic research to clinical application. Meanwhile, the findings of Chinese scientists have been drawn great attentions of international peers. This review aims to provide an overall picture of the front in Chinese medical genetics, and highlights the important findings and their research strategy.

  6. Working up autism: the practical role of medical genetics.

    Science.gov (United States)

    Gurrieri, Fiorella

    2012-05-15

    The autism spectrum disorders (ASD) comprise a group of neurobehavioral phenotypes of heterogeneous etiology. In spite of a worldwide extensive research effort to unravel the genetic mystery of autism, medical geneticists are still facing an embarrassing lack of knowledge in dealing with the diagnosis, and consequently prognosis, of a child with autism. However, some lessons can be learned from accumulating experience in the clinical and molecular genetic evaluation of children with this condition. Patient evaluation, indications for molecular testing and counseling are the three aspects that will be discussed in this review.

  7. Medical genetics in Cuba and its social impact.

    Directory of Open Access Journals (Sweden)

    Edith María Beltrán Molina

    2012-03-01

    Full Text Available The Genetics it is the science that studies the genes of the individuals, their operation, their transmission, their alterations, their relationships with other genes and their interaction with the environment. The present article approaches aspects of great interest corresponding to this science, in the same one he/she appears reflected a summary of examples that you/they evidence the advances of the medical genetics in Cuba as well as achievements in favor of the health and the well-being of the children and the Cuban family in general that they register among the noblest ideals and it reflects the humanist and solidary character of the Cuban Revolution.

  8. Medical genetics services in the city of Sao Paulo, Brazil.

    Science.gov (United States)

    Brunoni, Decio

    2004-01-01

    The city of Sao Paulo is located in the center of a metropolitan area with nearly 18 million inhabitants and 300,000 births/year. The currently existing medical genetics services are unable to meet the demand, due to their insufficient physical and personnel infrastructure. Institutions and experts in medical genetics could give short training and refresher courses to health professionals to enable them to work in the public health network. The city has a reasonably well developed health care network, represented by the Single Health System (Sistema Unico de Saude - SUS) and by the Family Health Program (Programa de Saude da Familia - PSF). The financial resources for such actions originate in the budget of the managing agencies of such systems. The limitations of genetic services provided to the population of the city could be overcome in a short period of time by developing programs within the public health care network. The city has institutions, professionals and financial resources to make this project feasible. To that end, the competent authorities of the Sao Paulo State and City Secretariats of Health should take managerial responsibility for the genetic services in the city. Copyright (c) 2004 S. Karger AG, Basel.

  9. A New Method for Medical Image Clustering Using Genetic Algorithm

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    Akbar Shahrzad Khashandarag

    2013-01-01

    Full Text Available Segmentation is applied in medical images when the brightness of the images becomes weaker so that making different in recognizing the tissues borders. Thus, the exact segmentation of medical images is an essential process in recognizing and curing an illness. Thus, it is obvious that the purpose of clustering in medical images is the recognition of damaged areas in tissues. Different techniques have been introduced for clustering in different fields such as engineering, medicine, data mining and so on. However, there is no standard technique of clustering to present ideal results for all of the imaging applications. In this paper, a new method combining genetic algorithm and k-means algorithm is presented for clustering medical images. In this combined technique, variable string length genetic algorithm (VGA is used for the determination of the optimal cluster centers. The proposed algorithm has been compared with the k-means clustering algorithm. The advantage of the proposed method is the accuracy in selecting the optimal cluster centers compared with the above mentioned technique.

  10. 76 FR 18227 - Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee; Notice of...

    Science.gov (United States)

    2011-04-01

    ... HUMAN SERVICES Food and Drug Administration Molecular and Clinical Genetics Panel of the Medical Devices... Molecular and Clinical Genetics Panel (the panel) of the Medical Devices Advisory Committee that published... meeting of the Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee, and the...

  11. Peking University Center of Medical Genetics (PUCMG): a comprehensive medical genetics program in China%中国医学遗传综合项目基地--北京大学医学遗传中心

    Institute of Scientific and Technical Information of China (English)

    Nanbert ZHONG

    2006-01-01

    @@ Medical genetics, as an important component in the advanced medical practice, has touched in variant aspects of clinical aspects. Globally, in both developed and developing countries, medical genetics is playing more and more important roles in dealing with the public healthcare. Being a medical specialty performing diagnosis and intervention for genetic disorders, the medical genetics has bridged the clinical practice and basic medical sciences. It is derived, but different, from human genetics. The difference of which is that the medical genetics provides clinical service for medical professionals and patients; however, the human genetics focuses on investigation of genetic principles.

  12. Incorporating medical interventions into carrier probability estimation for genetic counseling

    Directory of Open Access Journals (Sweden)

    Katki Hormuzd A

    2007-03-01

    Full Text Available Abstract Background Mendelian models for predicting who may carry an inherited deleterious mutation of known disease genes based on family history are used in a variety of clinical and research activities. People presenting for genetic counseling are increasingly reporting risk-reducing medical interventions in their family histories because, recently, a slew of prophylactic interventions have become available for certain diseases. For example, oophorectomy reduces risk of breast and ovarian cancers, and is now increasingly being offered to women with family histories of breast and ovarian cancer. Mendelian models should account for medical interventions because interventions modify mutation penetrances and thus affect the carrier probability estimate. Methods We extend Mendelian models to account for medical interventions by accounting for post-intervention disease history through an extra factor that can be estimated from published studies of the effects of interventions. We apply our methods to incorporate oophorectomy into the BRCAPRO model, which predicts a woman's risk of carrying mutations in BRCA1 and BRCA2 based on her family history of breast and ovarian cancer. This new BRCAPRO is available for clinical use. Results We show that accounting for interventions undergone by family members can seriously affect the mutation carrier probability estimate, especially if the family member has lived many years post-intervention. We show that interventions have more impact on the carrier probability as the benefits of intervention differ more between carriers and non-carriers. Conclusion These findings imply that carrier probability estimates that do not account for medical interventions may be seriously misleading and could affect a clinician's recommendation about offering genetic testing. The BayesMendel software, which allows one to implement any Mendelian carrier probability model, has been extended to allow medical interventions, so future

  13. Medical Genetics and the First Studies of the Genetics of Populations in Mexico.

    Science.gov (United States)

    Barahona, Ana

    2016-09-01

    Following World War II (WWII), there was a new emphasis within genetics on studying the genetic composition of populations. This probably had a dual source in the growing strength of evolutionary biology and the new international interest in understanding the effects of radiation on human populations, following the atomic bombings in Japan. These global concerns were shared by Mexican physicians. Indeed, Mexico was one of the leading centers of this trend in human genetics. Three leading players in this story were Mario Salazar Mallén, Adolfo Karl, and Rubén Lisker. Their trajectories and the international networks in human genetics that were established after WWII, paved the way for the establishment of medical and population genetics in Mexico. Salazar Mallén's studies on the distribution and characterization of ABO blood groups in indigenous populations were the starting point while Karl's studies on the distribution of abnormal hemoglobin in Mexican indigenous populations showed the relationships observed in other laboratories at the time. It was Lisker's studies, however, that were instrumental in the development of population genetics in the context of national public policies for extending health care services to the Mexican population. In particular, he conducted studies on Mexican indigenous groups contributing to the knowledge of the biological diversity of human populations according to international trends that focused on the variability of human populations in terms of genetic frequencies. From the start, however, Lisker was as committed to the reconstruction of shared languages and practices as he was to building networks of collaboration in order to guarantee the necessary groundwork for establishing the study of the genetics of human populations in Mexico. This study also allows us to place Mexican science within a global context in which connected narratives describe the interplay between global trends and national contexts. Copyright © 2016 by

  14. A proposal for clinical genetics (genetics in medicine) education for medical technologists and other health professionals in Japan.

    Science.gov (United States)

    Kohzaki, Hidetsugu

    2014-01-01

    Since the completion of the Human Genome Project, technology has developed markedly in fields such as medical genetics and genetic counseling in the medical arena. In particular, this technology has advanced the discovery of and ways of understanding various genes responsible for genetic diseases, and genetic polymorphisms thought to be associated with disease. Some have been implicated as factors in common lifestyle diseases and have increased the significance of genetic testing. In Japan, doctors and other health professionals, such as nurse and medical technologists have been engaged in genetic testing and genetic disease treatment. Chromosomal and gene aberrations were detected mainly by medical technologists. However, due to the nature of medical technologists who have to provide various clinical tests, such as blood test, pre-medical technology students are required to cover tremendous knowledge of different academic fields to pass the national exam. Therefore, the time allowed for such students to study chromosomal and gene analysis is quite limited. Moreover, they are forced to enter the medical setting without receiving sufficient training. Among them, only few medical technologists specialize in chromosomal and gene analysis. However, with the advancement of clinical genetics and development of chromosomal and gene analysis, conducting clinical practice is becoming more and more difficult for medical technologists who just passed the national exam. Also, doctors and other health professionals have not been able to keep up with service demands either. This paper attempts to address knowledge and skills gaps (especially clinical genetics, English, and ICT literacy) of medical technologists and we propose educational methods to prepare medical genetics professionals in Japan to meet these gaps.

  15. Genetic susceptibility to radiation: which impact on medical practice?

    Energy Technology Data Exchange (ETDEWEB)

    Alapetite, C.; Cosset, J.M. [Institut Curie, Dept. de Radiotherapie, 75 - Paris (France); Bourguignon, M.H.; Masse, R. [Office de Protection contre les Rayonnements Ionisants, 78 - le Vesinet (France)

    2001-07-01

    Recent progress especially in the field of gene identification and expression have raised more attention on genetic susceptibility to cancer possibly enhanced by radiations. Radiation therapists are mostly concerned by this question since hypersensitive patients may suffer from adverse effects in normal tissues following a standard radiation therapy and normally sensitive patients could benefit from higher doses of radiations for a better cure of their malignant tumors. Although only a small percentage of individuals are 'hypersensitive' to radiation effects, all medical specialists using ionising radiations should be aware of these new progress in medical knowledge. The present paper reviews the main pathologies (diseases, syndromes...) known or strongly suspected to be associated with a hypersensitivity to ionizing radiations. Then the main tests capable to detect in advance such pathologies are analyzed and compared. Finally guidelines are provided, especially to the radiation therapists to limit the risk of severe complications (or even deaths) for these specific subset of patients suffering from a genetic disorder with a susceptibility to radiations. (author)

  16. Science fiction/science fact: medical genetics in news stories.

    Science.gov (United States)

    Petersen, Alan; Anderson, Alison; Allan, Stuart

    2005-12-01

    News media coverage of biotechnology issues offers a rich source of fictional portrayals, with stories drawing strongly on popular imagery and metaphors in descriptions of the powers and dangers of biotechnology. This article examines how science fiction metaphors, imagery and motifs surface in British newspaper (broadsheet and tabloid) coverage of medical genetic issues, focusing on press reporting of two recent highly publicised news media events; namely, the Hashmi and Whitaker families' plights to use stem cells from a 'perfectly matched sibling' for the treatment of their diseased children. It is concerned in particular with the extent to which journalists' use of certain literary devices encourages preferred formulations of medical genetics, and thereby potentially shapes public deliberation about scientific developments and their consequences for society. Understanding how science fiction sustains science fact, and vice versa, and how the former is portrayed in news media, it is argued, would thus seem to be crucial in the effort to understand why people respond so strongly to biotechnologies, and what they imagine their consequences to be.

  17. Effectiveness of Team-Based Learning in teaching Medical Genetics to Medical Undergraduates.

    Science.gov (United States)

    Ismail, Noor Akmal Shareela

    2016-03-01

    This study explores the experience of both learners and a teacher during a team-based learning (TBL) session. TBL involves active learning that allows medical students to utilise their visual, auditory, writing and kinetic learning styles in order to strengthen their knowledge and retain it for longer, which is important with regard to applying basic sciences in clinical settings. This pilot study explored the effectiveness of TBL in learning medical genetics, and its potential to replace conventional lectures. First-year medical students (n = 194) studying at Universiti Kebangsaan, Malaysia, during 2014/2015 were selected to participate in this study. The topic of 'Mutation and Mutation Analysis' was selected, and the principles of TBL were adhered to during the study. It was found that the students' performance in a group readiness test was better than in individual readiness tests. The effectiveness of TBL was further shown in the examination, during which the marks obtained were tremendously improved. Collective commentaries from both the learners and the teacher recommended TBL as another useful tool in learning medical genetics. Implementation strategies should be advanced for the benefit of future learners and teachers.

  18. A proposal for clinical genetics (genetics in medicine education for medical technologists and other health professionals in Japan

    Directory of Open Access Journals (Sweden)

    Hidestugu eKohzaki

    2014-08-01

    Full Text Available Since the completion of the Human Genome Project, technology has developed markedly in fields such as medical genetics and genetic counseling in the medical arena. In particular, this technology has advanced the discovery of and ways of understanding various genes responsible for genetic diseases, and genetic polymorphisms thought to be associated with disease. Some have been implicated as factors in common lifestyle diseases and have increased the significance of genetic testing. In Japan, doctors and other health professionals, such as nurse and medical technologists have been engaged in genetic testing and genetic disease treatment. Chromosomal and gene aberrations were detected mainly by medical technologists. However, due to the nature of medical technologists who have to provide various clinical tests, such as blood test, pre-medical technology students are required to cover tremendous knowledge of different academic fields to pass the national exam. Therefore, the time allowed for such students to study chromosomal and gene analysis is quite limited. Moreover, they are forced to enter the medical setting without receiving sufficient training. Among them, only few medical technologists specialize in chromosomal and gene ana

  19. Medical Image Classification Using Genetic Optimized Elman Network

    Directory of Open Access Journals (Sweden)

    T. Baranidharan

    2012-01-01

    Full Text Available Problem statement: Advancements in the internet and digital images have resulted in a huge database of images. Most of the current search engines found in the web depends only on images that can be retrieved using metadata, which generates a lot of unwanted results in the results got. Content-Based Image Retrieval (CBIR system is the utilization of computer vision techniques in the predicament of image retrieval. In other words, it is used for searching and retrieving of the right digital image among a huge database using query image. CBIR finds extensive applications in the field of medicine as it helps medical professionals in diagnosis and plan treatment. Approach: Various methods have been proposed for CBIR using the images low level features like histogram, color, texture and shape. Similarly various classification algorithms like Naive Bayes classifier, Support Vector Machine, Decision tree induction algorithms and Neural Network based classifiers have been studied extensively. In this study it is proposed to extract global features using Hilbert Transform (HT, select features based on the correlation of the extracted vectors with respect to the class label and propose a enhanced Elman Neural Network Genetic Algorithm Optimized Elman (GAOE Neural Network. Results and Conclusion: The proposed method for feature extraction and the classification algorithm was tested on a dataset consisting of 180 medical images. The classification accuracy of 92.22% was obtained in the proposed method.

  20. Genealogical data in population medical genetics: Field guidelines

    Science.gov (United States)

    Poletta, Fernando A.; Orioli, Ieda M.; Castilla, Eduardo E.

    2014-01-01

    This is a guide for fieldwork in Population Medical Genetics research projects. Data collection, handling, and analysis from large pedigrees require the use of specific tools and methods not widely familiar to human geneticists, unfortunately leading to ineffective graphic pedigrees. Initially, the objective of the pedigree must be decided, and the available information sources need to be identified and validated. Data collection and recording by the tabulated method is advocated, and the involved techniques are presented. Genealogical and personal information are the two main components of pedigree data. While the latter is unique to each investigation project, the former is solely represented by gametic links between persons. The triad of a given pedigree member and its two parents constitutes the building unit of a genealogy. Likewise, three ID numbers representing those three elements of the triad is the record field required for any pedigree analysis. Pedigree construction, as well as pedigree and population data analysis, varies according to the pre-established objectives, the existing information, and the available resources. PMID:24764752

  1. Genealogical data in population medical genetics: field guidelines

    Directory of Open Access Journals (Sweden)

    Fernando A. Poletta

    2014-01-01

    Full Text Available This is a guide for fieldwork in Population Medical Genetics research projects. Data collection, handling, and analysis from large pedigrees require the use of specific tools and methods not widely familiar to human geneticists, unfortunately leading to ineffective graphic pedigrees. Initially, the objective of the pedigree must be decided, and the available information sources need to be identified and validated. Data collection and recording by the tabulated method is advocated, and the involved techniques are presented. Genealogical and personal information are the two main components of pedigree data. While the latter is unique to each investigation project, the former is solely represented by gametic links between persons. The triad of a given pedigree member and its two parents constitutes the building unit of a genealogy. Likewise, three ID numbers representing those three elements of the triad is the record field required for any pedigree analysis. Pedigree construction, as well as pedigree and population data analysis, varies according to the pre-established objectives, the existing information, and the available resources.

  2. Attitudes of medical students towards human genome research and genetic counselling and testing

    Directory of Open Access Journals (Sweden)

    Schäfer, Mike Steffen

    2005-04-01

    Full Text Available Purpose: The study aimed to describe students' attitudes towards human genome research and towards genetic counselling and testing at cancer patients. The background of this investigation provided the increasing relevance ob human genetics research for clinical practice.Methods: A total of 167 medical students (54% female, aged 24 +/- 2 years from the second phase of their studies were surveyed in obligatory courses at the University of Leipzig, using a standardized questionnaire. Topics of the survey were attitudes towards human genome research and genetic counselling and testing at cancer patients as well as general values and socio-demographic data of the students.Results: The students consider human genome research as relevant and evaluate it positively, mainly based on expectations of medical uses. Genetic counselling and testing at cancer patients as an application of human genetics is also evaluated as important. The students attribute high relevance to clinical procedures for identification of genetic backgrounds for cancer (family history, information about genetic diagnostic. Nevertheless, deficits in their medical education are highlighted und reflected upon: the increased integration of human genetic content into medical curricula is demanded.Discussion: In accordance with the newly formulated „Approbationsordnung für Ärzte", the results suggest that current human genetic development should be more emphasized in medical education. This could be realized by an enlarged ratio of human genetic courses within curricula and by the transformation of these courses from facultative into obligatory.

  3. Improving medical students' knowledge of genetic disease: a review of current and emerging pedagogical practices

    Directory of Open Access Journals (Sweden)

    Wolyniak MJ

    2015-10-01

    Full Text Available Michael J Wolyniak,1 Lynne T Bemis,2 Amy J Prunuske2 1Department of Biology, Hampden-Sydney College, Hampden-Sydney, VA, 2Department of Biomedical Sciences, University of Minnesota Medical School, Duluth, MN, USA Abstract: Genetics is an essential subject to be mastered by health professional students of all types. However, technological advances in genomics and recent pedagogical research have changed the way in which many medical training programs teach genetics to their students. These advances favor a more experience-based education focused primarily on developing student's critical thinking skills. In this review, we examine the current state of genetics education at both the preclinical and clinical levels and the ways in which medical and pedagogical research have guided reforms to current and emerging teaching practices in genetics. We discover exciting trends taking place in which genetics is integrated with other scientific disciplines both horizontally and vertically across medical curricula to emphasize training in scientific critical thinking skills among students via the evaluation of clinical evidence and consultation of online databases. These trends will produce future health professionals with the skills and confidence necessary to embrace the new tools of medical practice that have emerged from scientific advances in genetics, genomics, and bioinformatics. Keywords: genetics education, medical genetics, pedagogical practice, active learning, problem-based learning

  4. Practice and thinking of the integrated curriculum of medical genetics and embryonic development

    Institute of Scientific and Technical Information of China (English)

    Ming-min GU; Zhi-de DING; Hong XU; Lei HUANG; Zhao-yuan HOU; Ying-yin NI

    2015-01-01

    Objective To draw a conclusion from the experience on the integrated curriculum of medical genetics and embryonic development set up for the eight-year clinical medicine,and to lay the foundation for its application to the five-year clinical medicine. Methods The advantages and disadvantages of the integrated curriculumof medical genetics and embryonic development were analyzed with the comparative analysis method. And opinions of students of the eight-year clinical medicine on the teaching of the current integrated curriculum were learnt about with questionnaires. Results The current integrated curriculum of medical genetics and embryonic development has basically achieved the goal of simplifying the original teaching contents and the crossing and integration of the related discipline contents,the overall student satisfaction is high. Conclusion The integrated curriculum of medical genetics and embryonic development is helpful for the integral optimization of the medical curriculum framework,which can be expanded to the five-year clinical medicine in the future.

  5. Basic concepts of medical genetics, pathogenetics, Part 2

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2012-10-23

    Oct 23, 2012 ... Sickle cell anemia is another example of a drastic genetic disease resulting from a single point mutation of the beta glo- bin gene. Point mutations ..... 1- Which of the following diagnostic techniques is of no value in the diagnosis of neural ... [3] Pierce Benjamin A. Genetics: A Conceptual Approach. 2nd ed.

  6. Medical Students Knowledge and Attitude Towards Direct-To-Consumer Genetic Tests

    OpenAIRE

    Luca Giraldi; Marco Colotto; Roberta Pastorino; Dario Arzani; Christian Ineichen; Effy Vayena; Stefania Boccia

    2016-01-01

    Aims: This study reports on the attitudes of 179 Italian Medical Students to direct-to-consumer genetic test and to participation in research practices. Methods: Data were collected using a self-completion online questionnaire sent to 380 medical students at the faculty of Medicine of the Università Cattolica del Sacro Cuore in Rome, Italy. Questions pertained issues related to awareness and attitudes towards genetic testing, reactions to hypothetical results, and views about contributing...

  7. Basic concepts of medical genetics, pathogenetics, Part 2

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2012-10-23

    Oct 23, 2012 ... of ethnic, racial or environmental factors, indicates that these types of genetic changes or ... balances and interactions, e.g. due to genomic imprinting mutations, leads to disturbed .... B- Truncal obesity. C- Brachydactyly.

  8. Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics.

    Science.gov (United States)

    Alford, Raye L; Friedman, Thomas B; Keats, Bronya J B; Kimberling, William J; Proud, Virginia K; Smith, Richard J H; Arnos, Kathleen S; Korf, Bruce R; Rehm, Heidi L; Toriello, Helga V

    2003-01-01

    An educational slide set entitled "Early Childhood Hearing Loss: Clinical and Molecular Genetics" is offered by the American College of Medical Genetics (ACMG). The slide set is produced in Microsoft PowerPoint 2002. It is extensively illustrated and supported with teaching tools, explanations of each slide and figure, links to Internet resources, and a bibliography. The slide set is expected to be used as a resource for self-directed learning and in support of medical genetics teaching activities. The slide set is available through the ACMG (http://www.acmg.net) for $20, plus applicable tax and shipping. It is the first in a series of educational slide sets to be developed by the ACMG.

  9. Simulation based virtual learning environment in medical genetics counseling

    DEFF Research Database (Denmark)

    Makransky, Guido; Bonde, Mads T.; Wulff, Julie S. G.

    2016-01-01

    BACKGROUND: Simulation based learning environments are designed to improve the quality of medical education by allowing students to interact with patients, diagnostic laboratory procedures, and patient data in a virtual environment. However, few studies have evaluated whether simulation based lea...

  10. The importance of being marginal: Norma Ford Walker and a Canadian school of medical genetics.

    Science.gov (United States)

    Miller, Fiona

    2002-08-30

    This study reviews the development of a medical genetics research tradition in Toronto, Canada. This research tradition, what I call the "Ford Walker school," was forged in the 1930s in an iconoclastic mold. It was female-dominated in an era when leading-edge science was definitely not "women's work." It emerged in a leading research university, but in a country that lagged in the sciences. These social relations of gender and nation symbolized and sustained a marginality that was reinforced by the substantive concerns of members of this research school. They adopted a service orientation toward medicine, were sympathetic to heterodox approaches to genetic and medical science, and were principally reliant on a marginal research tool-dermatoglyphics. Despite this marginality, Norma Ford Walker was among the founding members of the institutions of human and medical genetics in North America in the postwar period. She forged a research tradition that served as the basis for further developments in medical genetics in Toronto and educated a generation of students, many of them women, who went on to populate and then institutionalize the growing science and practice of medical genetics in Canada. The heterodox approach of the early Ford Walker school was displaced as the field grew in the postwar period. Yet many members of the research school retained dermatoglyphic technique and used it to contribute to progress in medical cytogenetics. In this article, I explore why the history of this marginal research school is important.

  11. Opinions of children about participation in medical genetic research

    NARCIS (Netherlands)

    Pal, S.M. van der; Sozanska, B.; Madden, D.; Kosmeda, A.; Debinska, A.; Danielewicz, H.; Boznanski, A.; Detmar, S.

    2011-01-01

    Aims: The objective was to evaluate children's opinions about their participation in a large research project. Methods: Polish children between 6 and 14 years of age completed a questionnaire about their participation in the Polish Gabriel study (which aims to identify genetic and environmental caus

  12. Opinions of children about participation in medical genetic research

    NARCIS (Netherlands)

    Pal, S.M. van der; Sozanska, B.; Madden, D.; Kosmeda, A.; Debinska, A.; Danielewicz, H.; Boznanski, A.; Detmar, S.

    2011-01-01

    Aims: The objective was to evaluate children's opinions about their participation in a large research project. Methods: Polish children between 6 and 14 years of age completed a questionnaire about their participation in the Polish Gabriel study (which aims to identify genetic and environmental

  13. Education Status of Oral Genetics at the Fourth Military Medical University and other Chinese Dental Schools.

    Science.gov (United States)

    Zhang, Yan Li; Wang, Chang Ning; Fan, Zhi Peng; Jiao, Yang; Duan, Xiao Hong

    To investigate the current state of genetics education at the Fourth Military Medical University (FMMU) and compare it with other dental schools of China. Detailed information about the history and current education status of Oral Genetics in the FMMU were collected and questionnaires were completed to acquire the feedback of twenty-seven students on the course. In the other thirty-five dental schools including the capitals of twenty-five provinces and four municipalities in China, information about the oral genetic course were collected by a telephone survey. The contents of survey included whether or not the Oral Genetic course is offered and some basic information about the curriculum (such as the content, hours, teachers' background and teaching methods). Among a total of thirty-six dental schools investigated, six of them (16.7%) offered the Oral Genetic course or related lectures/seminars. The length and contents of the curriculum vary among these schools. The FMMU offered the oral genetic curriculum both to undergraduates and graduated students. Their teachers had a broad range of backgrounds, such as dentistry, biology, genetics, and biochemistry. The students considered the Oral Genetics course to be helpful for their future professional careers. Genetic education in dentistry in China is still at a preliminary stage. More effort must be paid to spread the knowledge of Oral Genetics in China. In addition, domestic and international communications and networks for Oral Genetics should be set up in the near future.

  14. [Implications in primary health care of medical genetics and genomic in type 2 diabetes mellitus].

    Science.gov (United States)

    Ramirez-Garcia, Sergio Alberto; Cabrera-Pivaral, Carlos E; Huacuja-Ruiz, Luis; Flores-Alvarado, Luis Javier; Pérez-García, Guillermo; González-Rico, José Luis; López-Velázquez, Alma; Topete-González, Luz Rosalba; Rosales-Góme, Roberto Carlos; Candelario-Mejía, Gerardo; Villa-Ruano, Nemesio

    2013-01-01

    Type 2 diabetes mellitus is a complex disease and a global health problem. Therefore, the first level of health care should handle the approaches of medical genetics and genomics to reduce its incidence. The aim is to present perspectives analyzed by our group in two areas of genetics and its clinical application. Emphasis is placed on the coexistence of several genetic forms clinically detectable in patients with diabetes, missing heritability associated with low penetrance, and epigenomics mechanism. It is discussed the effect of genetic variation associated with resistance to insulin, beta-cell dysfunction, shaft incretin, and other points of interest, such as thrifty genotype hypothesis, conformational disease, genetically unknown foods, phenocopies as clinically silent hypercortisolism, molecular phytopharmacology in the clinical management. Finally, the result was displayed in the Mexican population from genetic studies and new findings of clinical importance, such as involvement of melatonin and effect of variations in the number of copies in a genomic region.

  15. The power of partnerships: the Liverpool school of butterfly and medical genetics.

    Science.gov (United States)

    Zallen, Doris T

    2014-12-01

    From the 1950s to the 1970s, a group of physician-researchers forming the 'Liverpool school' made groundbreaking contributions in such diverse areas as the genetics of Lepidoptera and human medical genetics. The success of this group can be attributed to the several different, but interconnected, research partnerships that Liverpool physician Cyril Clarke established with Philip Sheppard, Victor McKusick at Johns Hopkins University, the Nuffield Foundation, and his wife FCo. Despite its notable successes, among them the discovery of the method to prevent Rhesus haemolytic disease of the newborn, the Liverpool School began to lose prominence in the mid-1970s, just as the field of medical genetics that it had helped pioneer began to grow. This paper explores the role of partnerships in making possible the Liverpool school's scientific and medical achievements, and also in contributing to its decline.

  16. Medical genetics, public understanding and patient experiences: An exploratory qualitative study of recently pregnant women

    Science.gov (United States)

    Garman, Jamie L.

    The purpose of the study was to document how individuals' experiences and understanding of genetics concepts affects their medical experiences. Recently pregnant women were interviewed because they represent a population that needs to comprehend biological and genetic information to understand their health. Three women were designated as science experts (SE) defined as having extensive university level science education and three women were designated as science non-experts (SNE). In general, SEs described a more positive pregnancy experience. Both SEs and SNEs demonstrated a basic understanding of genetic concepts but varied in the application of concepts to personal medical issues. Participants' views and experiences of pre and postnatal tests were linked to their understanding of nature of science components such as recognition that tests have limitations. Results from this study indicate an incomplete understanding of the nature of science among participants may have led to unsatisfactory medical experiences.

  17. Mutations in Soviet public health science: post-Lysenko medical genetics, 1969-1991.

    Science.gov (United States)

    Bauer, Susanne

    2014-09-01

    This paper traces the integration of human genetics with Soviet public health science after the Lysenko era. For nearly three decades, USSR biology pursued its own version of anti-bourgeois, Soviet 'creative Darwinism', departing from western, post-WWII scientific developments. After Lysenko was suspended, research niches of immunology, biophysics and mutation research formed the basis of new departments at the Institute of Medical Genetics, which was founded in 1969 as part of the Soviet Academy of Medical Sciences. Focussing on early research activities and collaborations at the institute, I show how the concept of mutagenesis, a pivotal issue during the Cold War, became mobilized from Drosophila genetics to human heredity and to society as a whole. This mode of scaling up and down through population studies shaped not only Soviet human biology and genetics; it also brought about changes in clinical practice and public health as well as in the monitoring and regulation of mutagenic agents in the environment.

  18. The African Genome Variation Project shapes medical genetics in Africa.

    Science.gov (United States)

    Gurdasani, Deepti; Carstensen, Tommy; Tekola-Ayele, Fasil; Pagani, Luca; Tachmazidou, Ioanna; Hatzikotoulas, Konstantinos; Karthikeyan, Savita; Iles, Louise; Pollard, Martin O; Choudhury, Ananyo; Ritchie, Graham R S; Xue, Yali; Asimit, Jennifer; Nsubuga, Rebecca N; Young, Elizabeth H; Pomilla, Cristina; Kivinen, Katja; Rockett, Kirk; Kamali, Anatoli; Doumatey, Ayo P; Asiki, Gershim; Seeley, Janet; Sisay-Joof, Fatoumatta; Jallow, Muminatou; Tollman, Stephen; Mekonnen, Ephrem; Ekong, Rosemary; Oljira, Tamiru; Bradman, Neil; Bojang, Kalifa; Ramsay, Michele; Adeyemo, Adebowale; Bekele, Endashaw; Motala, Ayesha; Norris, Shane A; Pirie, Fraser; Kaleebu, Pontiano; Kwiatkowski, Dominic; Tyler-Smith, Chris; Rotimi, Charles; Zeggini, Eleftheria; Sandhu, Manjinder S

    2015-01-15

    Given the importance of Africa to studies of human origins and disease susceptibility, detailed characterization of African genetic diversity is needed. The African Genome Variation Project provides a resource with which to design, implement and interpret genomic studies in sub-Saharan Africa and worldwide. The African Genome Variation Project represents dense genotypes from 1,481 individuals and whole-genome sequences from 320 individuals across sub-Saharan Africa. Using this resource, we find novel evidence of complex, regionally distinct hunter-gatherer and Eurasian admixture across sub-Saharan Africa. We identify new loci under selection, including loci related to malaria susceptibility and hypertension. We show that modern imputation panels (sets of reference genotypes from which unobserved or missing genotypes in study sets can be inferred) can identify association signals at highly differentiated loci across populations in sub-Saharan Africa. Using whole-genome sequencing, we demonstrate further improvements in imputation accuracy, strengthening the case for large-scale sequencing efforts of diverse African haplotypes. Finally, we present an efficient genotype array design capturing common genetic variation in Africa.

  19. Indigenous Identity at the Intersection of Medical Genetics Discourses- DNA and Indigeneity Symposium

    OpenAIRE

    Rosalina James

    2015-01-01

    Beginning in the early twenty-first century, the genomic age has seen academic interests expand beyond Indigenous global migrations to more medically-driven population genetic research. In this environment, scientific narratives tend to privilege race-based biological explanations for physical and mental health phenomena. Similarly, academic frameworks for individual and group identity are increasingly described through a lens of genetic-derived logic over the cultural, political, historical,...

  20. Report - 21st century medical genetic and genomic medicine in China

    Institute of Scientific and Technical Information of China (English)

    HUANG Taosheng; QI Ming

    2005-01-01

    @@ The First Hangzhou International Symposium on the Medical and Laboratory Applications of Medical Genetics and Genomics was held in Hangzhou from October 6~8, 2005. The symposium was organized and sponsored by the First Affiliated Hospital, School of Medicine, Zhejiang University and co-sponsored by the Zhejiang Medical Association;School of Medicine of Zhejiang University; the James Watson Institute of Genomics Sciences and Beijing Genomics Institute/Huada Genomics Center of the Chinese Academy of Science. Many internationally prominent geneticists were invited to the meeting,including Arno Motulsky, Peter Byers, Douglas Wallace, Judith Hall, and David Weatherall. The invited speakers presented discussions of recent advances in human and medical genetics, genomics, and in cutting-edge research.

  1. Medical and lay attitudes towards genetic screening and testing in Finland

    DEFF Research Database (Denmark)

    Toiviainen, Hanna; Jallinoja, Piia; Aro, Arja R

    2003-01-01

    The purpose of this study was to compare physicians', midwives' and lay people's attitudes towards genetic screening and testing to find out whether medical education and experience influence attitudes of genetic screening and testing. The study was based on comparison of answers to joint questions...... referred to as midwives in the following; n=800, response rate 79%), and lay people (n=2000, response rate 62%). Midwives were more worried about the consequences of genetic testing and stressed the autonomy of the customer more strongly than lay people did. Furthermore, professionals considered that lay...

  2. Medical Students Knowledge and Attitude Towards Direct-To-Consumer Genetic Tests

    Directory of Open Access Journals (Sweden)

    Luca Giraldi

    2016-09-01

    Full Text Available Aims: This study reports on the attitudes of 179 Italian Medical Students to direct-to-consumer genetic test and to participation in research practices. Methods: Data were collected using a self-completion online questionnaire sent to 380 medical students at the faculty of Medicine of the Università Cattolica del Sacro Cuore in Rome, Italy. Questions pertained issues related to awareness and attitudes towards genetic testing, reactions to hypothetical results, and views about contributing to scientific research. Results: The response rate was 47.1%. Less than 50% of students were aware of DTC genetic test. Seventy-four percent of the sample were interested in undergoing DTC genetic test, and the main reason was being aware on genetic predisposition to diseases. Among those who were not willing to undergo a genetic test, the main reason was the lack of confidence in the results. In the hypothetical situations of an increased disease risk after undergoing DTC genetic testing, respondents would take actions to reduce that risk, while in the opposite scenario they would feel unaffected because of the probabilistic nature of the test. Conclusions: We reported a good level of awareness about DTC genetic test and a high interest in undergoing DTC genetic test in our sample. Nevertheless, opinions and reactions are strongly dependent by the hypothetical good or bad result that the test could provide and by the context whereby a genetic test could be performed. Respondents seem to be exposed to the risk of psychological harms, and a strong regulation regarding their use is required.

  3. Genetic susceptibility for specific cancers. Medical liability of the clinician.

    Science.gov (United States)

    Severin, M J

    1999-12-01

    The use of genetic profiling techniques to detect individuals with an increased susceptibility to heritable cancers has provoked recent legal interest in the duties of the attending physician and in the rights of patients and their families. In the current study specific prima facie and recently litigated cases are presented and explored to delineate the issues facing physicians and to illustrate the prerogatives of patients who are caught up in a heritable cancer enigma. Various courts have attempted to answer questions involving lawsuits in which incidents of breast/ovarian carcinoma and colon carcinoma have provoked claims of negligence against health care providers. Health care workers involved in the care of these patients have specific duties to these individuals. It would appear that physicians are being forced to assume the additional duty of delving into a patient's family history of cancer through multiple generations. This duty is followed by a responsibility to provide detailed counseling to those patients in whom such activity impacts the diagnosis and management of familial cancer.

  4. Evolving Rule-Based Systems in two Medical Domains using Genetic Programming

    DEFF Research Database (Denmark)

    Tsakonas, A.; Dounias, G.; Jantzen, Jan

    2004-01-01

    We demonstrate, compare and discuss the application of two genetic programming methodologies for the construction of rule-based systems in two medical domains: the diagnosis of Aphasia's subtypes and the classification of Pap-Smear Test examinations. The first approach consists of a scheme...... that combines genetic programming and heuristic hierarchical crisp rule-base construction. The second model is composed by a grammar driven genetic programming system for the generation of fuzzy rule-based systems. Results are also compared for their efficiency, accuracy and comprehensibility, to those...... of a standard entropy based machine learning approach and to those of a standard genetic programming symbolic expression approach. In the diagnosis of subtypes of Aphasia, two models for crisp rule-bases are presented. The first one discriminates between four major types and the second attempts...

  5. Constraints on Biological Mechanism from Disease Comorbidity Using Electronic Medical Records and Database of Genetic Variants.

    Directory of Open Access Journals (Sweden)

    Steven C Bagley

    2016-04-01

    Full Text Available Patterns of disease co-occurrence that deviate from statistical independence may represent important constraints on biological mechanism, which sometimes can be explained by shared genetics. In this work we study the relationship between disease co-occurrence and commonly shared genetic architecture of disease. Records of pairs of diseases were combined from two different electronic medical systems (Columbia, Stanford, and compared to a large database of published disease-associated genetic variants (VARIMED; data on 35 disorders were available across all three sources, which include medical records for over 1.2 million patients and variants from over 17,000 publications. Based on the sources in which they appeared, disease pairs were categorized as having predominant clinical, genetic, or both kinds of manifestations. Confounding effects of age on disease incidence were controlled for by only comparing diseases when they fall in the same cluster of similarly shaped incidence patterns. We find that disease pairs that are overrepresented in both electronic medical record systems and in VARIMED come from two main disease classes, autoimmune and neuropsychiatric. We furthermore identify specific genes that are shared within these disease groups.

  6. Diagnosis and management of familial Mediterranean fever: integrating medical genetics in a dedicated interdisciplinary clinic.

    Science.gov (United States)

    Zadeh, Neda; Getzug, Terri; Grody, Wayne W

    2011-03-01

    Familial Mediterranean fever is an autosomal recessive genetic disorder characterized by recurrent febrile polyserositis, especially prevalent in individuals of Mediterranean descent. Familial Mediterranean fever can have nonspecific manifestations that mimic many common acquired disorders such as infections, acute appendicitis, cholecystitis, and arthritis, which can delay diagnosis for many years and subject patients to extensive evaluations and even unnecessary surgery. Untreated familial Mediterranean fever can result in serious complications such as end-stage renal disease and malabsorption secondary to amyloid deposition in the kidneys and digestive tract, male and female infertility, and growth retardation in children. These significant sequelae, along with the episodic acute attacks, are readily preventable by treatment with oral colchicine and underscore the necessity of early detection and treatment from a medical, psychosocial, and economic standpoint. We describe our comprehensive approach to the accurate diagnosis and effective management of this disorder by means of a dedicated familial Mediterranean fever clinic that incorporates medical genetics on equal footing with general medicine. In addition to providing the clinician with the presenting features of familial Mediterranean fever, methods of diagnosis including molecular testing, and current management based on our extensive experience with hundreds of affected individuals, we also advance this approach as a model for the incorporation of medical genetics practice into the more traditional domains of general medicine.

  7. Genetics in medical school curriculum: A look at the University of Rochester School of Medicine and Dentistry

    Institute of Scientific and Technical Information of China (English)

    Deanne M. ROBINSON; Chin-To FONG

    2008-01-01

    Genetics is assuming an increasingly important role in medicine. As a result, the teaching of genetics should also be increased proportionally to ensure that future physicians will be able to take advantage of the new genetic technology, and to understand the associated ethical, legal and social issues. At the University of Rochester School of Medicine and Dentistry, we have been able to incorporate genetic education into a four-year medical curriculum in a fully integrated fashion. This model may serve as a template for other medical curriculum still in development.

  8. The 2014 Varsity Medical Ethics Debate: should we allow genetic information to be patented?

    Science.gov (United States)

    Metcalfe, Kiloran H M; Worsley, Calum A; Swerner, Casey B; Sinha, Devan; Solanki, Ravi; Ravi, Krithi; Dattani, Raj S

    2015-05-20

    The 2014 Varsity Medical Ethics debate convened upon the motion: "This house believes that genetic information should not be commoditised". This annual debate between students from the Universities of Oxford and Cambridge, now in its sixth year, provided the starting point for arguments on the subject. The present article brings together and extends many of the arguments put forward during the debate. We explore the circumstances under which genetic material should be considered patentable, the possible effects of this on the research and development of novel therapeutics, and the need for clear guidelines within this rapidly developing field.The Varsity Medical Debate was first held in 2008 with the aim of allowing students to engage in discussion about ethics and policy within healthcare. Two Oxford medical students, Mahiben Maruthappu and Sanjay Budheo founded the event. The event is held annually and it is hoped that this will allow future leaders to voice a perspective on the arguments behind topics that will feature heavily in future healthcare and science policy. This year the Oxford University Medical Society at the Oxford Union hosted the debate.

  9. Attitudes toward medical and genetic confidentiality in the Saudi research biobank: An exploratory survey.

    Science.gov (United States)

    Alahmad, Ghiath; Hifnawy, Tamer; Abbasi, Badaruddin; Dierickx, Kris

    2016-03-01

    Achieving a balance between giving access to information and respecting donors' confidentiality is a crucial issue for any biobank, with its large number of samples and associated information. Despite the existence of much empirical literature on confidentiality, there are too few surveys in the Middle East about the topic, particularly in the Saudi context. A survey was conducted of 200 respondents at King Abdulaziz Medical City in Riyadh, Saudi Arabia, among 5 groups of equal size, comprised of researchers, physicians, medical students, donors and laypersons, respectively. The majority of participants agreed that confidentiality is an important issue and that it is well protected in the Saudi biobank. All 5 groups showed different attitudes toward disclosing information to various third parties. They were in favor of allowing treating physicians, and to a certain extent family members, to have access to medical and genetic results from research. No significant differences were found between views on medical and genetic confidentiality. The majority of respondents agreed that confidentiality might be breached in cases with specific justified reasons. Even considering differences in religion, culture and other factors, the results of the study were consistent with those reported in the literature and research conducted in other countries. We therefore place emphasis on the importance of protecting and promoting patient/donor confidentiality and privacy.

  10. Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles.

    Science.gov (United States)

    Diehl, Adam C; Reader, Lauren; Hamosh, Ada; Bodurtha, Joann N

    2015-02-01

    With the relentless expansion of genetics into every field of medicine, stronger preclinical and clinical medical student education in genetics is needed. The explosion of genetic information cannot be addressed by simply adding content hours. We proposed that students be provided a tool to access accurate clinical information on genetic conditions and, through this tool, build life-long learning habits to carry them through their medical careers. Surveys conducted at the Johns Hopkins University School of Medicine revealed that medical students in all years lacked confidence when approaching genetic conditions and lacked a reliable resource for accurate genetic information. In response, the school created a horizontal thread that stretches across the first-year curriculum and is devoted to teaching students how to use Online Mendelian Inheritance in Man (OMIM) (http://omim.org) and the databases to which it links as a starting point for approaching genetic conditions. The thread improved the first-year students' confidence in clinical genetics concepts and encouraged use of OMIM as a primary source for genetic information. Most students showed confidence in OMIM as a learning tool and wanted to see the thread repeated in subsequent years. Incorporating OMIM into the preclinical curriculum improved students' confidence in clinical genetics concepts.

  11. [Medical genetic research on the Khanty population of the Ovgort rural district of the Yamal-Nenets Autonomous territory].

    Science.gov (United States)

    Puzyrev, V P; Abanina, T A; Nazarenko, L P; Lemza, S V; Ostretsova, O A

    1985-02-01

    The results of medico-genetical studies of the Khanty from the Lower Ob river carried out by Tomsk Department of Institute of Medical Genetics of Academy of Medical Sciences of the USSR are presented. The population is characterized by a relatively high index of endogamy (0.54) and a low inbreeding coefficient (0.0011). Diseases of the polygenic mode of inheritance predominate among nosological forms of hereditary pathology.

  12. Extracting Primary Open-Angle Glaucoma from Electronic Medical Records for Genetic Association Studies.

    Directory of Open Access Journals (Sweden)

    Nicole A Restrepo

    Full Text Available Electronic medical records (EMRs are being widely implemented for use in genetic and genomic studies. As a phenotypic rich resource, EMRs provide researchers with the opportunity to identify disease cohorts and perform genotype-phenotype association studies. The Epidemiologic Architecture for Genes Linked to Environment (EAGLE study, as part of the Population Architecture using Genomics and Epidemiology (PAGE I study, has genotyped more than 15,000 individuals of diverse genetic ancestry in BioVU, the Vanderbilt University Medical Center's biorepository linked to a de-identified version of the EMR (EAGLE BioVU. Here we develop and deploy an algorithm utilizing data mining techniques to identify primary open-angle glaucoma (POAG in African Americans from EAGLE BioVU for genetic association studies. The algorithm described here was designed using a combination of diagnostic codes, current procedural terminology billing codes, and free text searches to identify POAG status in situations where gold-standard digital photography cannot be accessed. The case algorithm identified 267 potential POAG subjects but underperformed after manual review with a positive predictive value of 51.6% and an accuracy of 76.3%. The control algorithm identified controls with a negative predictive value of 98.3%. Although the case algorithm requires more downstream manual review for use in large-scale studies, it provides a basis by which to extract a specific clinical subtype of glaucoma from EMRs in the absence of digital photographs.

  13. Medical and genetic differences in the adverse impact of sleep loss on performance: ethical considerations for the medical profession.

    Science.gov (United States)

    Czeisler, Charles A

    2009-01-01

    The Institute of Medicine recently concluded that-on average-medical residents make more serious medical errors and have more motor vehicle crashes when they are deprived of sleep. In the interest of public safety, society has required limitations on work hours in many other safety sensitive occupations, including transportation and nuclear power generation. Those who argue in favor of traditional extended duration resident work hours often suggest that there are inter- individual differences in response to acute sleep loss or chronic sleep deprivation, implying that physicians may be more resistant than the average person to the detrimental effects of sleep deprivation on performance, although there is no evidence that physicians are particularly resistant to such effects. Indeed, recent investigations have identified genetic polymorphisms that may convey a relative resistance to the effects of prolonged wakefulness on a subset of the healthy population, although there is no evidence that physicians are over-represented in this cohort. Conversely, there are also genetic polymorphisms, sleep disorders and other inter-individual differences that appear to convey an increased vulnerability to the performance-impairing effects of 24 hours of wakefulness. Given the magnitude of inter-individual differences in the effect of sleep loss on cognitive performance, and the sizeable proportion of the population affected by sleep disorders, hospitals face a number of ethical dilemmas. How should the work hours of physicians be limited to protect patient safety optimally? For example, some have argued that, in contrast to other professions, work schedules that repeatedly induce acute and chronic sleep loss are uniquely essential to the training of physicians. If evidence were to prove this premise to be correct, how should such training be ethically accomplished in the quartile of physicians and surgeons who are most vulnerable to the effects of sleep loss on performance

  14. Abandoning the common law: medical negligence, genetic tests and wrongful life in the Australian High Court.

    Science.gov (United States)

    Faunce, Thomas; Jefferys, Susannah

    2007-05-01

    The Australian High Court recently found that the common law could allow parents to claim tortious damages when medical negligence was proven to have led to the birth of an unplanned, but healthy, baby (Cattanach v Melchior (2003) 215 CLR 1). In Harriton v Stephens (2006) 80 ALJR 791; [2006] HCA 15 and Waller v James; Waller v Hoolahan (2006) 80 ALJR 846; [2006] HCA 16 the High Court in a six-to-one decision (Kirby J dissenting) decided that no such claim could be made by a child when medical negligence in failing to order an in utero genetic test caused the child severe disability. In an era when almost all pregnancies will soon require patented fetal genetic tests as part of the professional standard of care, the High Court, by barring so-called "wrongful life" (better termed "wrongful suffering") claims, may have created a partial immunity from suit for their corporate manufacturers and the doctors who administer them. What lessons can be learnt from this case about how the Australian High Court is, or should be, approaching medical negligence cases and its role as guardian of the Australian common law?

  15. From 'beastly philosophy' to medical genetics: eugenics in Russia and the Soviet Union.

    Science.gov (United States)

    Krementsov, Nikolai

    2011-01-01

    This essay offers an overview of the three distinct periods in the development of Russian eugenics: Imperial (1900-1917), Bolshevik (1917-1929), and Stalinist (1930-1939). Began during the Imperial era as a particular discourse on the issues of human heredity, diversity, and evolution, in the early years of the Bolshevik rule eugenics was quickly institutionalized as a scientific discipline--complete with societies, research establishments, and periodicals--that aspired an extensive grassroots following, generated lively public debates, and exerted considerable influence on a range of medical, public health, and social policies. In the late 1920s, in the wake of Joseph Stalin's 'Great Break', eugenics came under intense critique as a 'bourgeois' science and its proponents quickly reconstituted their enterprise as 'medical genetics'. Yet, after a brief period of rapid growth during the early 1930s, medical genetics was dismantled as a 'fascist science' towards the end of the decade. Based on published and original research, this essay examines the factors that account for such an unusual--as compared to the development of eugenics in other locales during the same period--historical trajectory of Russian eugenics.

  16. A time study of cancer genetic counselors using a genetic counselor-only patient care model versus a traditional combined genetic counselor plus medical geneticist care model.

    Science.gov (United States)

    Heald, Brandie; Gustafson, Shanna; Mester, Jessica; Arscott, Patricia; Lynch, Katherine; Moline, Jessica; Eng, Charis

    2013-09-01

    Analyses of time-based effort have determined that clinical genetic services are labor-intensive, although these data derive primarily from studying geneticists' efforts in the pediatric model. No studies have investigated the time and patient care activities of cancer genetic counselors (GCs) in traditional clinics with a medical geneticist (GC/MD) compared with genetic counselor-only (GCO) appointments. In this study, 6 GCs prospectively tracked time spent in patient care activities in both clinical settings. The authors found that overall, GCs' time spent per patient was lower for GCO versus GC/MD visits. No differences were seen in time spent on results disclosure, but differences were noted in case preparation, face-to-face, and follow-up times. Furthermore, no differences were seen in number of case preparation activities or topics covered during a session. These data suggest that GCO visits result in better use of GCs' time, without a trade-off in number of patient-related activities.

  17. Genetic Programming for the Generation of Crisp and Fuzzy Rule Bases in Classification and Diagnosis of Medical Data

    DEFF Research Database (Denmark)

    Dounias, George; Tsakonas, Athanasios; Jantzen, Jan

    2002-01-01

    This paper demonstrates two methodologies for the construction of rule-based systems in medical decision making. The first approach consists of a method combining genetic programming and heuristic hierarchical rule-base construction. The second model is composed by a strongly-typed genetic progra...

  18. 76 FR 6623 - Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee; Notice of Meeting

    Science.gov (United States)

    2011-02-07

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Food and Drug Administration Molecular and Clinical Genetics Panel of the Medical Devices... (FDA). The meeting will be open to the public. Name of Committee: Molecular and Clinical Genetics...

  19. Section E9 of the American College of Medical Genetics technical standards and guidelines: fluorescence in situ hybridization.

    Science.gov (United States)

    Mascarello, James T; Hirsch, Betsy; Kearney, Hutton M; Ketterling, Rhett P; Olson, Susan B; Quigley, Denise I; Rao, Kathleen W; Tepperberg, James H; Tsuchiya, Karen D; Wiktor, Anne E

    2011-07-01

    This updated Section E9 has been incorporated into and supersedes the previous Section E9 in Section E: Clinical Cytogenetics of the 2008 Edition (Revised 02/2007) American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories. This section deals specifically with the standards and guidelines applicable to fluorescence in situ hybridization analysis.

  20. Double trouble: medical implications of genetic duplication and amplification in bacteria.

    Science.gov (United States)

    Craven, Sarah H; Neidle, Ellen L

    2007-06-01

    Gene amplification allows organisms to adapt to changing environmental conditions. This type of increased gene dosage confers selectable benefits, typically by augmenting protein production. Gene amplification is a reversible process that does not require permanent genetic change. Although transient, altered gene dosage has significant medical impact. Recent examples of amplification in bacteria, described here, affect human disease by modifying antibiotic resistance, the virulence of pathogens, vaccine efficacy and antibiotic biosynthesis. Amplification is usually a two-step process whereby genetic duplication (step one) promotes further increases in copy number (step two). Both steps have important evolutionary significance for the emergence of innovative gene functions. Recent genome sequence analyses illustrate how genome plasticity can affect the evolution and immunogenic properties of bacterial pathogens.

  1. [Practice and research into multi-unit teaching of Medical Genetics.].

    Science.gov (United States)

    Du, Shao-Ling; Xu, Si-Bin; Gong, Lei; Zhu, Xiao-Lei; Wang, Ping; Lin, Ai-Qin

    2010-10-01

    In order to fully arise the enthusiasm of students in active learning and promote their development, we attempted such multiple class teaching methods in teaching medical science of genetics as elaboration of the basic theory of genetics, synopsis on the advance of this field, application of multimedia teaching, case-based teaching, role-play change in class teaching, instructions on writing of reviewing articles and academic assessment by diverse examination. The results suggest that multiple teaching methods can greatly enhance the efficiency of class teaching and comprehensively cultivate the academic ability of the students as well as improve the quality of teachers. Compared with the conventional class teaching, students are much interested in giving lessons by case-based study, CAI teaching and role change of teachers and students in class teaching, which resulted in improvement of self-disciplined study of students, problem settlement, class performance, awareness of the importance of scientific research and reinforcement of team work.

  2. Preimplantation genetic diagnosis: an ambiguous legal status for an ambiguous medical and social practice.

    Science.gov (United States)

    Christian, B Y K

    2008-01-01

    Preimplantation Genetic Diagnosis (PGD) is a technique that is strictly regulated in most European countries where it is regularly practised, the legal status of PGD may appear to some as unethical because it may be viewed as a facilitator for those who would like to select children for reason other than medical. The need to test human embryos before birth and the consequences that may occur to those detected with some abnormalities also revives the issue of the respect due to the human embryo. In this paper the author analyse these matters.

  3. The sense of responsibility in the context of professional activities in Medical Genetics.

    Science.gov (United States)

    Oliva-Teles, Natália

    2011-11-01

    Medical Genetics is a relatively new field of scientific work that involves a lot of enthusiastic professionals, both in routine (clinical) and research (scientific projects). In either field, different geneticists feel different responsibilities for their work, either because they are different people (personal responsibility) or because they have a different rank in the respective departments (professional responsibility). This paper presents the philosophical views of several authors on the sense of responsibility from the Classical times until the present and reveals the practical, daily responsibilities that are met by these professionals, in four areas of responsibility: personal, professional, scientific and sociatal framework.

  4. Genetic structure of a unique admixed population: implications for medical research.

    Science.gov (United States)

    Patterson, Nick; Petersen, Desiree C; van der Ross, Richard E; Sudoyo, Herawati; Glashoff, Richard H; Marzuki, Sangkot; Reich, David; Hayes, Vanessa M

    2010-02-01

    Coloured individuals and made comparisons with historically predicted founder populations. We show that there is substantial genetic contribution from at least four distinct population groups: Europeans, South Asians, Indonesians and a population genetically close to the isiXhosa sub-Saharan Bantu. This is in good accord with the historical record. We briefly examine the implications of determining the genetic diversity of this population, not only for furthering understanding of human evolution out of Africa, but also for genome-wide association studies using admixture mapping. In conclusion, we define the genetic structure of a uniquely admixed population that holds great potential to advance genetic-based medical research.

  5. Hereditary hemochromatosis: perspectives of public health, medical genetics, and primary care.

    Science.gov (United States)

    Imperatore, Giuseppina; Pinsky, Linda E; Motulsky, Arno; Reyes, Michele; Bradley, Linda A; Burke, Wylie

    2003-01-01

    Hereditary hemochromatosis (HHC) is a condition characterized by excess iron in body tissues, resulting in complications such as cirrhosis, cardiomyopathy, diabetes, and arthritis. These complications usually manifest during adulthood. Two methods of screening for the detection of early stage of HHC are available: serum iron measures and molecular testing to detect mutations in the gene. These phenotypic and genotypic screening tests are of particular interest because a simple treatment-periodic phlebotomy-can be used to prevent iron accumulation and clinical complications. HHC might represent the first adult-onset genetic disorder for which universal population-based screening would be appropriate. Therefore, HHC has been proposed as a paradigm for the introduction of adult genetic diseases into clinical and public health practice. However, universal screening for HHC has not been recommended because of the uncertainty about the natural history of the iron overload or HHC and, in particular, uncertainty about the prevalence of asymptomatic iron overload and the likelihood that it will progress to clinical complications. If universal screening is not appropriate based on current data, what other measures might reduce the disease burden of iron overload? New studies provide more systematic information about the penetrance of the C282Y mutation and shed further light on the natural history of the disorder. The authors review these data and consider their implications for public health, medical genetics, and primary care.

  6. Implementation of Biography Based Neural Clustering (BBNC with Genetic Processing for tumor detection from medical images

    Directory of Open Access Journals (Sweden)

    Kaur Chandanpreet

    2016-01-01

    Full Text Available Segmentation is a best method to divide the required region from the medical images. This research is based on segmentation of medical images (MRI, CT scans based on the previous method known as pre-operative and post-recurrence tumor registration (PORTR and proposed method biography based neural clustering (BBNC with genetic processing for tumor segmentation. By using the new technique the extracted part can be view in 3D model and also can get the actual segmented tumor region. This new method will be helpful for diagnostics to find the tumor area as well as pixel difference in segmented part to define the tumor area accurately. While in the previous approach all the parameters have been used likewise, in which the registration method is used to transform the different sets of data into one coordinate system for segmentation of medical images. Registration basically is used to improve the signals to reduce the noise from the images. These techniques are better to find the tumor area from the MRI and CT scans, but after comparing them better results have been obtained in proposed technique. The proposed technique (BBNC reduces the extracted region again into required and actual region of tumor with accuracy of area, time and pixel difference.

  7. Cost-sensitive case-based reasoning using a genetic algorithm: application to medical diagnosis.

    Science.gov (United States)

    Park, Yoon-Joo; Chun, Se-Hak; Kim, Byung-Chun

    2011-02-01

    The paper studies the new learning technique called cost-sensitive case-based reasoning (CSCBR) incorporating unequal misclassification cost into CBR model. Conventional CBR is now considered as a suitable technique for diagnosis, prognosis and prescription in medicine. However it lacks the ability to reflect asymmetric misclassification and often assumes that the cost of a positive diagnosis (an illness) as a negative one (no illness) is the same with that of the opposite situation. Thus, the objective of this research is to overcome the limitation of conventional CBR and encourage applying CBR to many real world medical cases associated with costs of asymmetric misclassification errors. The main idea involves adjusting the optimal cut-off classification point for classifying the absence or presence of diseases and the cut-off distance point for selecting optimal neighbors within search spaces based on similarity distribution. These steps are dynamically adapted to new target cases using a genetic algorithm. We apply this proposed method to five real medical datasets and compare the results with two other cost-sensitive learning methods-C5.0 and CART. Our finding shows that the total misclassification cost of CSCBR is lower than other cost-sensitive methods in many cases. Even though the genetic algorithm has limitations in terms of unstable results and over-fitting training data, CSCBR results with GA are better overall than those of other methods. Also the paired t-test results indicate that the total misclassification cost of CSCBR is significantly less than C5.0 and CART for several datasets. We have proposed a new CBR method called cost-sensitive case-based reasoning (CSCBR) that can incorporate unequal misclassification costs into CBR and optimize the number of neighbors dynamically using a genetic algorithm. It is meaningful not only for introducing the concept of cost-sensitive learning to CBR, but also for encouraging the use of CBR in the medical area

  8. Medical genomics: The intricate path from genetic variant identification to clinical interpretation

    Directory of Open Access Journals (Sweden)

    B. Quintáns

    2014-09-01

    A plethora of automated analysis software tools is being developed that will enhance efficiency and accuracy. However a risk of misinterpretation could derive from biased biorepository content, facilitated by annotation of variant functional consequences using previous datasets stored in the same or linked repositories. In order to improve variant interpretation and avoid an exponential accumulation of confounding noise in the medical literature, the use of terms in a standard way should be sought and requested when reporting genetic variants and their consequences. Generally, stepwise and linear interpretation processes are likely to overrate some pieces of evidence while underscoring others. Algorithms are needed that allow a multidimensional, parallel analysis of diverse lines of evidence to be carried out by expert teams for specific genes, cellular pathways or disorders.

  9. Designer babies on tap? Medical students' attitudes to pre-implantation genetic screening.

    Science.gov (United States)

    Meisenberg, Gerhard

    2009-03-01

    This paper describes two studies about the determinants of attitudes to pre-implantation genetic screening in a multicultural sample of medical students from the United States. Sample sizes were 292 in study 1 and 1464 in study 2. Attitudes were of an undifferentiated nature, but respondents did make a major distinction between use for disease prevention and use for enhancement. No strong distinctions were made between embryo selection and germ line gene manipulations, and between somatic gene therapy and germ line gene manipulations. Religiosity was negatively associated with acceptance of "designer baby" technology for Christians and Muslims but not Hindus. However, the strongest and most consistent influence was an apparently moralistic stance against active and aggressive interference with natural processes in general. Trust in individuals and institutions was unrelated to acceptance of the technology, indicating that fear of abuse by irresponsible individuals and corporations is not an important determinant of opposition.

  10. Evolving Rule-Based Systems in two Medical Domains using Genetic Programming

    DEFF Research Database (Denmark)

    Tsakonas, A.; Dounias, G.; Jantzen, Jan;

    2004-01-01

    We demonstrate, compare and discuss the application of two genetic programming methodologies for the construction of rule-based systems in two medical domains: the diagnosis of Aphasia's subtypes and the classification of Pap-Smear Test examinations. The first approach consists of a scheme...... the classification between all common types. A third model consisting of a GP-generated fuzzy rule-based system is tested on the same field. In the classification of Pap-Smear Test examinations, a crisp rule-based system is constructed. Results denote the effectiveness of the proposed systems. Comments...... and comparisons are made between the proposed methods and previous attempts on the selected fields of application....

  11. Genetic Programming for the Generation of Crisp and Fuzzy Rule Bases in Classification and Diagnosis of Medical Data

    DEFF Research Database (Denmark)

    Dounias, George; Tsakonas, Athanasios; Jantzen, Jan;

    2002-01-01

    This paper demonstrates two methodologies for the construction of rule-based systems in medical decision making. The first approach consists of a method combining genetic programming and heuristic hierarchical rule-base construction. The second model is composed by a strongly-typed genetic progra...... systems. Comparisons on the system's comprehensibility and the transparency are included. These comparisons include for the Aphasia domain, previous work consisted of two neural network models....

  12. Genetic variation (CHRNA5), medication (combination nicotine replacement therapy vs. varenicline), and smoking cessation.

    Science.gov (United States)

    Chen, Li-Shiun; Baker, Timothy B; Jorenby, Douglas; Piper, Megan; Saccone, Nancy; Johnson, Eric; Breslau, Naomi; Hatsukami, Dorothy; Carney, Robert M; Bierut, Laura J

    2015-09-01

    Recent evidence suggests that the efficacy of smoking cessation pharmacotherapy can vary across patients based on their genotypes. This study tests whether the coding variant rs16969968 in the CHRNA5 nicotinic receptor gene predicts the effects of combination nicotine replacement therapy (cNRT) and varenicline on treatment outcomes. In two randomized smoking cessation trials comparing cNRT vs. placebo, and varenicline vs. placebo, we used logistic regression to model associations between CHRNA5 rs16969968 and abstinence at end of treatment. For abstinence at end of treatment, there was an interaction between cNRT and rs16969968 (X(2)=8.15, df=2, omnibus-p=0.017 for the interaction); individuals with the high-risk AA genotype were more likely to benefit from cNRT. In contrast, varenicline increased abstinence, but its effect did not vary with CHRNA5. However, the genetic effects differed between the placebo control groups across two trials (wald=3.94, df=1, p=0.047), this non-replication can alter the interpretation of pharmacogenetic findings. Results from two complementary smoking cessation trials demonstrate inconsistent genetic results in the placebo arms. This evidence highlights the need to compare the most effective pharmacotherapies with the same placebo control to establish pharmacogenetic evidence to aid decisions on medication choice for patients trying to quit smoking. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  13. Primer on medical genomics part II: Background principles and methods in molecular genetics.

    Science.gov (United States)

    Tefferi, Ayalew; Wieben, Eric D; Dewald, Gordon W; Whiteman, David A H; Bernard, Matthew E; Spelsberg, Thomas C

    2002-08-01

    The nucleus of every human cell contains the full complement of the human genome, which consists of approximately 30,000 to 70,000 named and unnamed genes and many intergenic DNA sequences. The double-helical DNA molecule in a human cell, associated with special proteins, is highly compacted into 22 pairs of autosomal chromosomes and an additional pair of sex chromosomes. The entire cellular DNA consists of approximately 3 billion base pairs, of which only 1% is thought to encode a functional protein or a polypeptide. Genetic information is expressed and regulated through a complex system of DNA transcription, RNA processing, RNA translation, and posttranslational and cotranslational modification of proteins. Advances in molecular biology techniques have allowed accurate and rapid characterization of DNA sequences as well as identification and quantification of cellular RNA and protein. Global analytic methods and human genetic mapping are expected to accelerate the process of identification and localization of disease genes. In this second part of an educational series in medical genomics, selected principles and methods in molecular biology are recapped, with the intent to prepare the reader for forthcoming articles with a more direct focus on aspects of the subject matter.

  14. Genetics

    Science.gov (United States)

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  15. Responding to the implications of the genetics revolution for the education and training of doctors: a medical humanities approach.

    Science.gov (United States)

    Kirklin, Deborah

    2003-02-01

    Rapid advances in the field of genetics continue to present medical educators with significant challenges. Whilst there is undoubtedly a pressing need to educate doctors about genetic disorders, research and therapies, there is a parallel need to provide a context for all of these. An interdisciplinary, arts and humanities based approach, responding to this need, is described. This teaching has been successfully delivered both as optional and core undergraduate teaching, and as part of continuing professional development. THE HUMAN PERSPECTIVE: STORIES NOT HISTORIES: Understanding of the patient's perspective can be significantly improved by drawing on both written and oral stories of illness. THE HISTORICAL PERSPECTIVE: LEARNING FROM THE PATIENT: Experiential learning provides insights into the social history of developments in genetics, thereby placing the current concern and debate about the new genetics in context. THE ROLE OF THE MEDIA: THE POWER TO PERSUADE: Critical reading skills can be developed and the power of the popular press to influence the reader acknowledged by analysing and employing the skills of the journalist when reporting developments in biotechnology. LEARNER ASSESSMENT AND EVALUATION: Assessment, both formative and summative, demonstrates sophisticated insights and perspectives into the lived experience of genetic illness. Learner evaluation of the teaching is high. Medical humanities offers a powerful way to convey an understanding of how genetic disorders impact on the lives of patients and families, and to set this against the background of a history rich in the uses, and abuses, of knowledge of heredity.

  16. Biomedical visual data analysis to build an intelligent diagnostic decision support system in medical genetics.

    Science.gov (United States)

    Kuru, Kaya; Niranjan, Mahesan; Tunca, Yusuf; Osvank, Erhan; Azim, Tayyaba

    2014-10-01

    In general, medical geneticists aim to pre-diagnose underlying syndromes based on facial features before performing cytological or molecular analyses where a genotype-phenotype interrelation is possible. However, determining correct genotype-phenotype interrelationships among many syndromes is tedious and labor-intensive, especially for extremely rare syndromes. Thus, a computer-aided system for pre-diagnosis can facilitate effective and efficient decision support, particularly when few similar cases are available, or in remote rural districts where diagnostic knowledge of syndromes is not readily available. The proposed methodology, visual diagnostic decision support system (visual diagnostic DSS), employs machine learning (ML) algorithms and digital image processing techniques in a hybrid approach for automated diagnosis in medical genetics. This approach uses facial features in reference images of disorders to identify visual genotype-phenotype interrelationships. Our statistical method describes facial image data as principal component features and diagnoses syndromes using these features. The proposed system was trained using a real dataset of previously published face images of subjects with syndromes, which provided accurate diagnostic information. The method was tested using a leave-one-out cross-validation scheme with 15 different syndromes, each of comprised 5-9 cases, i.e., 92 cases in total. An accuracy rate of 83% was achieved using this automated diagnosis technique, which was statistically significant (pdiagnostic DSSs to that described in the present study, i.e., visual diagnostic DSS, thereby demonstrating the benefits of using hybrid image processing and ML-based computer-aided diagnostics for identifying facial phenotypes. Copyright © 2014. Published by Elsevier B.V.

  17. Genetic studies of DRD4 and clinical response to neuroleptic medications

    Energy Technology Data Exchange (ETDEWEB)

    Kennedy, J.L.; Petronis, A.; Gao, J. [Univ. of Toronto, Ontario (Canada)] [and others

    1994-09-01

    Clozapine is an atypical antipsychotic drug that, like most other medications, is effective for some people and not for others. This variable response across individuals is likely significantly determined by genetic factors. An important candidate gene to investigate in clozapine response is the dopamine D4 receptor gene (DRD4). The D4 receptor has a higher affinity for clozapine than any of the other dopamine receptors. Furthermore, recent work by our consortium has shown a remarkable level of variability in the part of the gene coding for the third cytoplasmic loop. We have also identified polymorphisms in the upstream 5{prime} putative regulatory region and at two other sites. These polymorphisms were typed in a group of treatment-resistant schizophrenia subjects who were subsequently placed on clozapine (n = 60). In a logistic regression analysis, we compared genotype at the DRD4 polymorphism to response versus non-response to clozapine. Neither the exon-III nor any of the 5{prime} polymorphisms alone significantly predicted response; however, when the information from these polymorphisms was combined, more predictive power was obtained. In a correspondence analysis of the four DRD4 polymorphisms vs. response, we were able to predict 76% of the variance in response. Refinement of the analyses will include assessment of subfactors involved in clinical response phenotype and incorporation of the debrisoquine metabolizing locus (CYP2D6) into the prediction algorithm.

  18. CRISPR-Cas9 for medical genetic screens: applications and future perspectives.

    Science.gov (United States)

    Xue, Hui-Ying; Ji, Li-Juan; Gao, Ai-Mei; Liu, Ping; He, Jing-Dong; Lu, Xiao-Jie

    2016-02-01

    CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats-CRISPR associated nuclease 9) systems have emerged as versatile and convenient (epi)genome editing tools and have become an important player in medical genetic research. CRISPR-Cas9 and its variants such as catalytically inactivated Cas9 (dead Cas9, dCas9) and scaffold-incorporating single guide sgRNA (scRNA) have been applied in various genomic screen studies. CRISPR screens enable high-throughput interrogation of gene functions in health and diseases. Compared with conventional RNAi screens, CRISPR screens incur less off-target effects and are more versatile in that they can be used in multiple formats such as knockout, knockdown and activation screens, and can target coding and non-coding regions throughout the genome. This powerful screen platform holds the potential of revolutionising functional genomic studies in the near future. Herein, we introduce the mechanisms of (epi)genome editing mediated by CRISPR-Cas9 and its variants, introduce the procedures and applications of CRISPR screen in functional genomics, compare it with conventional screen tools and at last discuss current challenges and opportunities and propose future directions.

  19. Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America.

    Science.gov (United States)

    Giugliani, Roberto

    2012-09-01

    with a comprehensive coverage in terms of number of diseases and number of births. Population medical genetics is the area of medical genetics that aims at the study and medical care of the population, and not of the family, which is the case for clinical or medical genetics itself. It combines different aspects of genetics: clinical genetics; human population genetics, which investigates populations according to micro-evolutionary parameters; epidemiological genetics, traditionally involved in the study of common chronic diseases of polygenic etiology, except for Mendelian diseases; and sanitary or community genetics, which stands at the interface with public health, giving support to preventive health measures. Taking into account that several LSDs were identified in a higher frequency in selected areas and/or populations, the population medical genetics approach could help to introduce the NBS for LSDs in the region, with identification of areas with higher risk for selected diseases and design of customized screening program to address specific needs. As an example of the potential of this approach, a pilot program of NBS for MPS VI was implemented in a community from North East Brazil where 13 cases of MPS VI were identified in an area with 50,000 inhabitants. This program, which will enable not only identification and early treatment of affected newborns but also carrier detection, and which would allow genetic counseling for at-risk couples, could be an alternative model for a customized NBS of LSDs to be carried out in selected regions.

  20. The Latin American School of Human and Medical Genetics: promoting education and collaboration in genetics and ethics applied to health sciences across the continent.

    Science.gov (United States)

    Giugliani, Roberto; Baldo, Guilherme; Vairo, Filippo; Lujan Lopez, Monica; Matte, Ursula

    2015-07-01

    The Latin American Network of Human Genetics (RELAGH) created the Latin American School of Human and Medical Genetics (ELAG) to prepare young researchers and professionals of Latin America to deal with the growing challenge of the genomic medicine. ELAG promotes an annually course since 2005, which received 838 students from 17 Latin American countries over these 10 years. ELAG plays an important role to provide education in genetics applied to health sciences to fellows who live in countries with a less favorable economic situation. Influenced, among others, by the humanitarian perspective of José Maria Cantú, one of its founders, ELAG has always favored the discussion of ethical and social issues related to genetics in Latin America. Few initiatives in Latin America lasted 10 consecutive years. One of the factors responsible for the ELAG's success has been its group of faculty members, who contribute to a friendly environment prone to facilitating the exchange of their own experiences with young researchers.

  1. Genetic testing behavior and reporting patterns in electronic medical records for physicians trained in a primary care specialty or subspecialty.

    Science.gov (United States)

    Ronquillo, Jeremiah Geronimo; Li, Cheng; Lester, William T

    2012-01-01

    To characterize important patterns of genetic testing behavior and reporting in modern electronic medical records (EMRs) at the institutional level. Retrospective observational study using EMR data of all 10,715 patients who received genetic testing by physicians trained in a primary care specialty or subspecialty at an academic medical center between January 1, 2008 and December 31, 2010. Patients had a mean±SD age of 38.3±15.8 years (median 36.1, IQR 30.0-43.8). The proportion of female subjects in the study population was larger than in the general patient population (77.2% vs 55.0%, p<0.001) and they were younger than the male subjects in the study (36.5±13.2 vs 44.6±21.2 years, p<0.001). Approximately 1.1% of all patients received genetic testing. There were 942 physicians who ordered a total of 15,320 genetic tests. By volume, commonly tested genes involved mutations for cystic fibrosis (36.7%), prothrombin (13.7%), Tay-Sachs disease (6.7%), hereditary hemochromatosis (4.4%), and chronic myelogenous leukemia (4.1%). EMRs stored reports as free text with categorical descriptions of mutations and an average length of 269.4±153.2 words (median 242, IQR 146-401). In this study, genetic tests were often ordered by a diverse group of physicians for women of childbearing age being evaluated for diseases that may affect potential offspring. EMRs currently serve primarily as a storage warehouse for textual reports that could potentially be transformed into meaningful structured data for next-generation clinical decision support. Further studies are needed to address the design, development, and implementation of EMRs capable of managing the critical genetic health information challenges of the future.

  2. Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.

    Science.gov (United States)

    Goldman, Jill S; Hahn, Susan E; Catania, Jennifer Williamson; LaRusse-Eckert, Susan; Butson, Melissa Barber; Rumbaugh, Malia; Strecker, Michelle N; Roberts, J Scott; Burke, Wylie; Mayeux, Richard; Bird, Thomas

    2011-06-01

    Alzheimer disease is the most common cause of dementia. It occurs worldwide and affects all ethnic groups. The incidence of Alzheimer disease is increasing due, in part, to increased life expectancy and the aging baby boomer generation. The average lifetime risk of developing Alzheimer disease is 10-12%. This risk at least doubles with the presence of a first-degree relative with the disorder. Despite its limited utility, patients express concern over their risk and, in some instances, request testing. Furthermore, research has demonstrated that testing individuals for apolipoprotein E can be valuable and safe in certain contexts. However, because of the complicated genetic nature of the disorder, few clinicians are prepared to address the genetic risks of Alzheimer disease with their patients. Given the increased awareness in family history thanks to family history campaigns, the increasing incidence of Alzheimer disease, and the availability of direct to consumer testing, patient requests for information is increasing. This practice guideline provides clinicians with a framework for assessing their patients' genetic risk for Alzheimer disease, identifying which individuals may benefit from genetic testing, and providing the key elements of genetic counseling for AD.

  3. Assessing Attitudes about Genetic Testing as a Component of Continuing Medical Education

    Science.gov (United States)

    Mrazek, Michael; Koenig, Barbara; Skime, Michelle; Snyder, Karen; Hook, Christopher; Black, John, III; Mrazek, David

    2007-01-01

    Objective: To investigate the attitudes among mental health professionals regarding the use of genetic testing. Methods: Psychiatrists and other mental health professionals (N = 41) who were enrolled in a week-long course in psychiatric genomics completed questionnaires before and after the course designed to assess how diagnostic genetic tests…

  4. Perspectives on Genetic and Genomic Technologies in an Academic Medical Center: The Duke Experience

    Directory of Open Access Journals (Sweden)

    Sara Huston Katsanis

    2015-04-01

    Full Text Available In this age of personalized medicine, genetic and genomic testing is expected to become instrumental in health care delivery, but little is known about its actual implementation in clinical practice. Methods. We surveyed Duke faculty and healthcare providers to examine the extent of genetic and genomic testing adoption. We assessed providers’ use of genetic and genomic testing options and indications in clinical practice, providers’ awareness of pharmacogenetic applications, and providers’ opinions on returning research-generated genetic test results to participants. Most clinician respondents currently use family history routinely in their clinical practice, but only 18 percent of clinicians use pharmacogenetics. Only two respondents correctly identified the number of drug package inserts with pharmacogenetic indications. We also found strong support for the return of genetic research results to participants. Our results demonstrate that while Duke healthcare providers are enthusiastic about genomic technologies, use of genomic tools outside of research has been limited. Respondents favor return of research-based genetic results to participants, but clinicians lack knowledge about pharmacogenetic applications. We identified challenges faced by this institution when implementing genetic and genomic testing into patient care that should inform a policy and education agenda to improve provider support and clinician-researcher partnerships.

  5. Mining drug-disease relationships as a complement to medical genetics-based drug repositioning: Where a recommendation system meets genome-wide association studies.

    Science.gov (United States)

    Wang, H; Gu, Q; Wei, J; Cao, Z; Liu, Q

    2015-05-01

    A novel recommendation-based drug repositioning strategy is presented to simultaneously determine novel drug indications and side effects in one integrated framework. This strategy provides a complementary method to medical genetics-based drug repositioning, which reduces the occurrence of false positives in medical genetics-based drug repositioning, resulting in a ranked list of new candidate indications and/or side effects with different confidence levels. Several new drug indications and side effects are reported with high prediction confidences.

  6. Diagnosis of Breast Cancer using a Combination of Genetic Algorithm and Artificial Neural Network in Medical Infrared Thermal Imaging

    Directory of Open Access Journals (Sweden)

    Hossein Ghayoumi zadeh

    2013-03-01

    Full Text Available Introduction This study is an effort to diagnose breast cancer by processing the quantitative and qualitative information obtained from medical infrared imaging. The medical infrared imaging is free from any harmful radiation and it is one of the best advantages of the proposed method. By analyzing this information, the best diagnostic parameters among the available parameters are selected and its sensitivity and precision in cancer diagnosis is improved by utilizing genetic algorithm and artificial neural network. Materials and Methods In this research, the necessary information is obtained from thermal imaging of 200 people, and 8 diagnostic parameters are extracted from these images by the research team. Then these 8 parameters are used as input of our proposed combinatorial model which is formed using artificial neural network and genetic algorithm. Results Our results have revealed that comparison of the breast areas; thermal pattern and kurtosis are the most important parameters in breast cancer diagnosis from proposed medical infrared imaging. The proposed combinatorial model with a 50% sensitivity, 75% specificity and, 70% accuracy shows good precision in cancer diagnosis. Conclusion The main goal of this article is to describe the capability of infrared imaging in preliminary diagnosis of breast cancer. This method is beneficial to patients with and without symptoms. The results indicate that the proposed combinatorial model produces optimum and efficacious parameters in comparison to other parameters and can improve the capability and power of globalizing the artificial neural network. This will help physicians in more accurate diagnosis of this type of cancer.

  7. Egyptian Journal of Medical Human Genetics - Vol 10, No 2 (2009)

    African Journals Online (AJOL)

    Therapeutic approaches to genetic disorders · EMAIL FREE FULL TEXT EMAIL ... Maternal risk factors in young Egyptian mothers of Down syndrome · EMAIL FREE ... Caveolin 3 gene and mitochondrial tRNA methionin gene in Duchenne ...

  8. DNA genetic artificial fish swarm constant modulus blind equalization algorithm and its application in medical image processing.

    Science.gov (United States)

    Guo, Y C; Wang, H; Zhang, B L

    2015-10-02

    This study proposes use of the DNA genetic artificial fish swarm constant modulus blind equalization algorithm (DNA-G-AFS-CMBEA) to overcome the local convergence of the CMBEA. In this proposed algorithm, after the fusion of the fast convergence of the AFS algorithm and the global search capability of the DNA-G algorithm to drastically optimize the position vector of the artificial fish, the global optimal position vector is obtained and used as the initial optimal weight vector of the CMBEA. The result of application of this improved method in medical image processing demonstrates that the proposed algorithm outperforms the CMBEA and the AFS-CMBEA in removing the noise in a medical image and improving the peak signal to noise ratio.

  9. Medical genetics: a hope of translational medicine%医学遗传学--医学研究成果转化的希望

    Institute of Scientific and Technical Information of China (English)

    柯杨

    2006-01-01

    @@ Medical genetics had been generally considered as a young branch of genetics thirty years ago. However, it has been playing a more significant role in exploring the basic mechanism of almost all kinds of diseases, improving the diagnosis and treatment, as well as preventing them nowadays. It absorbs all the research methods and methodology of genetics. At the same time, it derives lots of branch subjects as a result of the diversity and complexity of disease types. In addition, the duty of medical genetics includes taking research products into practice to serve patients also makes it possess strong vital force. In the new century, one important trend of medical research is to transform the basic research production into clinical practice, which is called as "translational medicine".

  10. The Change of a Medically Important Genus: Worldwide Occurrence of Genetically Diverse Novel Brucella Species in Exotic Frogs

    Science.gov (United States)

    Scholz, Holger C.; Mühldorfer, Kristin; Shilton, Cathy; Benedict, Suresh; Whatmore, Adrian M.; Blom, Jochen; Eisenberg, Tobias

    2016-01-01

    The genus Brucella comprises various species of both veterinary and human medical importance. All species are genetically highly related to each other, sharing intra-species average nucleotide identities (ANI) of > 99%. Infections occur among various warm-blooded animal species, marine mammals, and humans. Until recently, amphibians had not been recognized as a host for Brucella. In this study, however, we show that novel Brucella species are distributed among exotic frogs worldwide. Comparative recA gene analysis of 36 frog isolates from various continents and different frog species revealed an unexpected high genetic diversity, not observed among classical Brucella species. In phylogenetic reconstructions the isolates consequently formed various clusters and grouped together with atypical more distantly related brucellae, like B. inopinata, strain BO2, and Australian isolates from rodents, some of which were isolated as human pathogens. Of one frog isolate (10RB9215) the genome sequence was determined. Comparative genome analysis of this isolate and the classical Brucella species revealed additional genetic material, absent from classical Brucella species but present in Ochrobactrum, the closest genetic neighbor of Brucella, and in other soil associated genera of the Alphaproteobacteria. The presence of gene clusters encoding for additional metabolic functions, flanked by tRNAs and mobile genetic elements, as well as by bacteriophages is suggestive for a different ecology compared to classical Brucella species. Furthermore it suggests that amphibian isolates may represent a link between free living soil saprophytes and the pathogenic Brucella with a preferred intracellular habitat. We therefore assume that brucellae from frogs have a reservoir in soil and, in contrast to classical brucellae, undergo extensive horizontal gene transfer. PMID:28036367

  11. The Change of a Medically Important Genus: Worldwide Occurrence of Genetically Diverse Novel Brucella Species in Exotic Frogs.

    Science.gov (United States)

    Scholz, Holger C; Mühldorfer, Kristin; Shilton, Cathy; Benedict, Suresh; Whatmore, Adrian M; Blom, Jochen; Eisenberg, Tobias

    2016-01-01

    The genus Brucella comprises various species of both veterinary and human medical importance. All species are genetically highly related to each other, sharing intra-species average nucleotide identities (ANI) of > 99%. Infections occur among various warm-blooded animal species, marine mammals, and humans. Until recently, amphibians had not been recognized as a host for Brucella. In this study, however, we show that novel Brucella species are distributed among exotic frogs worldwide. Comparative recA gene analysis of 36 frog isolates from various continents and different frog species revealed an unexpected high genetic diversity, not observed among classical Brucella species. In phylogenetic reconstructions the isolates consequently formed various clusters and grouped together with atypical more distantly related brucellae, like B. inopinata, strain BO2, and Australian isolates from rodents, some of which were isolated as human pathogens. Of one frog isolate (10RB9215) the genome sequence was determined. Comparative genome analysis of this isolate and the classical Brucella species revealed additional genetic material, absent from classical Brucella species but present in Ochrobactrum, the closest genetic neighbor of Brucella, and in other soil associated genera of the Alphaproteobacteria. The presence of gene clusters encoding for additional metabolic functions, flanked by tRNAs and mobile genetic elements, as well as by bacteriophages is suggestive for a different ecology compared to classical Brucella species. Furthermore it suggests that amphibian isolates may represent a link between free living soil saprophytes and the pathogenic Brucella with a preferred intracellular habitat. We therefore assume that brucellae from frogs have a reservoir in soil and, in contrast to classical brucellae, undergo extensive horizontal gene transfer.

  12. Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

    Science.gov (United States)

    Keogh, Michael J.; Wei, Wei; Wilson, Ian; Coxhead, Jon; Ryan, Sarah; Rollinson, Sara; Griffin, Helen; Kurzawa-Akanbi, Marzena; Santibanez-Koref, Mauro; Talbot, Kevin; Turner, Martin R.; McKenzie, Chris-Anne; Troakes, Claire; Attems, Johannes; Smith, Colin; Al Sarraj, Safa; Morris, Chris M.; Ansorge, Olaf; Pickering-Brown, Stuart; Ironside, James W.; Chinnery, Patrick F.

    2017-01-01

    Given the central role of genetic factors in the pathogenesis of common neurodegenerative disorders, it is critical that mechanistic studies in human tissue are interpreted in a genetically enlightened context. To address this, we performed exome sequencing and copy number variant analysis on 1511 frozen human brains with a diagnosis of Alzheimer's disease (AD, n = 289), frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS, n = 252), Creutzfeldt-Jakob disease (CJD, n = 239), Parkinson's disease (PD, n = 39), dementia with Lewy bodies (DLB, n = 58), other neurodegenerative, vascular, or neurogenetic disorders (n = 266), and controls with no significant neuropathology (n = 368). Genomic DNA was extracted from brain tissue in all cases before exome sequencing (Illumina Nextera 62 Mb capture) with variants called by FreeBayes; copy number variant (CNV) analysis (Illumina HumanOmniExpress-12 BeadChip); C9orf72 repeat expansion detection; and APOE genotyping. Established or likely pathogenic heterozygous, compound heterozygous, or homozygous variants, together with the C9orf72 hexanucleotide repeat expansions and a copy number gain of APP, were found in 61 brains. In addition to known risk alleles in 349 brains (23.9% of 1461 undergoing exome sequencing), we saw an association between rare variants in GRN and DLB. Rare CNVs were found in genetic data are available, enabling the retrieval of specific frozen brains through the UK Medical Research Council Brain Banks Network. This allows direct access to pathological and control human brain tissue based on an individual's genetic architecture, thus enabling the functional validation of known genetic risk factors and potentially pathogenic alleles identified in future studies. PMID:28003435

  13. Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

    Science.gov (United States)

    Keogh, Michael J; Wei, Wei; Wilson, Ian; Coxhead, Jon; Ryan, Sarah; Rollinson, Sara; Griffin, Helen; Kurzawa-Akanbi, Marzena; Santibanez-Koref, Mauro; Talbot, Kevin; Turner, Martin R; McKenzie, Chris-Anne; Troakes, Claire; Attems, Johannes; Smith, Colin; Al Sarraj, Safa; Morris, Chris M; Ansorge, Olaf; Pickering-Brown, Stuart; Ironside, James W; Chinnery, Patrick F

    2017-01-01

    Given the central role of genetic factors in the pathogenesis of common neurodegenerative disorders, it is critical that mechanistic studies in human tissue are interpreted in a genetically enlightened context. To address this, we performed exome sequencing and copy number variant analysis on 1511 frozen human brains with a diagnosis of Alzheimer's disease (AD, n = 289), frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS, n = 252), Creutzfeldt-Jakob disease (CJD, n = 239), Parkinson's disease (PD, n = 39), dementia with Lewy bodies (DLB, n = 58), other neurodegenerative, vascular, or neurogenetic disorders (n = 266), and controls with no significant neuropathology (n = 368). Genomic DNA was extracted from brain tissue in all cases before exome sequencing (Illumina Nextera 62 Mb capture) with variants called by FreeBayes; copy number variant (CNV) analysis (Illumina HumanOmniExpress-12 BeadChip); C9orf72 repeat expansion detection; and APOE genotyping. Established or likely pathogenic heterozygous, compound heterozygous, or homozygous variants, together with the C9orf72 hexanucleotide repeat expansions and a copy number gain of APP, were found in 61 brains. In addition to known risk alleles in 349 brains (23.9% of 1461 undergoing exome sequencing), we saw an association between rare variants in GRN and DLB. Rare CNVs were found in <1.5% of brains, including copy number gains of PRPH that were overrepresented in AD. Clinical, pathological, and genetic data are available, enabling the retrieval of specific frozen brains through the UK Medical Research Council Brain Banks Network. This allows direct access to pathological and control human brain tissue based on an individual's genetic architecture, thus enabling the functional validation of known genetic risk factors and potentially pathogenic alleles identified in future studies. © 2017 Keogh et al.; Published by Cold Spring Harbor Laboratory Press.

  14. [Prenatal diagnosis. I: Prenatal diagnosis program at the Medical Genetics Unit of the Universidad de Zulia, Maracaibo, Venezuela].

    Science.gov (United States)

    Prieto-Carrasquero, M; Molero, A; Carrasquero, N; Paz, V; González, S; Pineda-Del Villar, L; Del Villar, A; Rojas-Atencio, A; Quintero, M; Fulcado, W; Mena, R; Morales-Machin, A

    1998-06-01

    The Prenatal Diagnosis Program of the Medical Genetic Unit of University of Zulia has the following objectives: Identification of Genetic Risk Factors (GRF) in those couples who attend to the Prenatal Genetic Clinic, application of different prenatal diagnostic procedures (PDP), and providing adequate genetic counseling. The goal of this paper is to show preliminary results obtained between January 1993 and December 1996. Three hundred and twenty one pregnant women were analyzed by determining the GRF and taking into account the genetic clinical history. The GRF analyzed were: Advanced maternal age (AMA), congenital malformation history (CMH), previous child with chromosomic anomalies (PCCA), defects of neural tube history (DNTH), congenital heart disease history (CHDH), any parent carrier of chromosomic anomaly (PCA), habitual abortion (HA), abnormal fetal echography (AFE), altered maternal serum levels of alpha-feto-protein (AMSAFP) and OTHERS: exposure to teratogenic agents, history of Mendelian diseases, maternal systemic diseases and anxiety in the mother or in her partner. The PDP was designed according to the GRF, which included fetal echography (FE), fetal echocardiography (FEc), amniocentesis (AMN), chordocentesis (CCT) and AMSAFP. Results showed that 58.4% of the expectant mothers asked for counseling during the 2nd trimester, 70% of the total showed only one GRF, and AMA was the most frequent GRF found (40.3%), followed by PCCA, AFE, CHDH, HA, DNTH, PCA, and OTHERS in that order. The specific PDP applied to the identified GRF allowed a health evaluation of the fetus. The GRF identification gave the opportunity of establishing a Prenatal Diagnostic Program producing a response to the couple's needs and showed the utility of an integral and multidisciplinary management directed to any expecting mother in order to identify any high GRF.

  15. Paternity analysis based on NGM SElect system in the Medical and Forensic Genetics Laboratory, Department of Forensic Medicine, Medical University of Lodz

    Directory of Open Access Journals (Sweden)

    Beata Markiewicz-Knyziak

    2015-08-01

    Full Text Available The aim of the study was to evaluate the usefulness of the NGM SElect multiplex kit for paternity testing in the population of central Poland, and compare it with the IDENTIFILER system. The study material consisted of buccal swabs taken from individuals who reported to the Medical and Forensic Genetics Laboratory in Lodz. Samples from 450 trio cases of disputed paternity carried out in 2010–2014 were investigated. Genomic DNA was extracted from buccal swabs collected from 1,350 individuals using the Swab kit (A&A Biotechnology according to the manufacturer’s protocol. DNA amplification was performed using the AmpFℓSTR ® NGM Select TM PCR Amplification Kit (Life Technologies. PCR products were separated by capillary electrophoresis using HID 3500 Genetic Analyzer. In the analyzed cases with paternity confirmation in the NGM SElect system, the maximum value of PI was 3.9 × 10 12 , which corresponds to the probability of paternity W = 99.9999999999%. It was thus significantly higher than analogical parameters obtained in the IDENTIFILER system (PI = 6.0 × 10 10 , W = 99.99999999%. The NGM SElect kit was unable to resolve just one case out of 450, which represents only 0.2% of all analyzed disputed paternity cases. The study showed the SE33 (ACTBP2 locus to have the highest evidence value in paternity analysis out of all investigated autosomal STRs.

  16. Paternity analysis based on NGM SElect system in the Medical and Forensic Genetics Laboratory, Department of Forensic Medicine, Medical University of Lodz.

    Science.gov (United States)

    Markiewicz-Knyziak, B; Jędrzejczyk, M; Bąbol-Pokora, K; Wojtkiewicz, R; Jacewicz, R

    2015-01-01

    The aim of the study was to evaluate the usefulness of the NGM SElect multiplex kit for paternity testing in the population of central Poland, and compare it with the IDENTIFILER system. The study material consisted of buccal swabs taken from individuals who reported to the Medical and Forensic Genetics Laboratory in Lodz. Samples from 450 trio cases of disputed paternity carried out in 2010-2014 were investigated. Genomic DNA was extracted from buccal swabs collected from 1,350 individuals using the Swab kit (A and A Biotechnology) according to the manufacturer's protocol. DNA amplification was performed using the AmpFℓSTR® NGM SelectTM PCR Amplification Kit (Life Technologies). PCR products were separated by capillary electrophoresis using HID 3500 Genetic Analyzer. In the analyzed cases with paternity confirmation in the NGM SElect system, the maximum value of PI was 3.9 × 1012, which corresponds to the probability of paternity W = 99.9999999999%. It was thus significantly higher than analogical parameters obtained in the IDENTIFILER system (PI = 6.0 × 1010, W = 99.99999999%). The NGM SElect kit was unable to resolve just one case out of 450, which represents only 0.2% of all analyzed disputed paternity cases. The study showed the SE33 (ACTBP2) locus to have the highest evidence value in paternity analysis out of all investigated autosomal STRs.

  17. Theories of genetics and evolution and the development of medical entomology in France (1900-1939).

    Science.gov (United States)

    Gachelin, G; Opinel, A

    2008-12-01

    The development of entomology and medical entomology in France is discussed in the context of the prevalence of Lamarckian ideas concerning heredity and evolution. Lamarckian ideas have greatly influenced research carried out at the Institut Pasteur by Emile Roubaud and more generally in Felix Mesnil's laboratory, as well as research in general entomology at the Museum national d'histoire naturelle. By contrast, it did not influence research and teaching at the Faculté de médecine of Paris or that of physicians more generally including those in overseas Instituts Pasteur, which clearly kept away from theoretical discussion concerning the origin of variations and adaptation in insects of medical interest.

  18. American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders.

    Science.gov (United States)

    Cooley, Linda D; Lebo, Matthew; Li, Marilyn M; Slovak, Marilyn L; Wolff, Daynna J

    2013-06-01

    Microarray methodologies, to include array comparative genomic hybridization and single-nucleotide polymorphism-based arrays, are innovative methods that provide genomic data. These data should be correlated with the results from the standard methods, chromosome and/or fluorescence in situ hybridization, to ascertain and characterize the genomic aberrations of neoplastic disorders, both liquid and solid tumors. Over the past several decades, standard methods have led to an accumulation of genetic information specific to many neoplasms. This specificity is now used for the diagnosis and classification of neoplasms. Cooperative studies have revealed numerous correlations between particular genetic aberrations and therapeutic outcomes. Molecular investigation of chromosomal abnormalities identified by standard methods has led to discovery of genes, and gene function and dysfunction. This knowledge has led to improved therapeutics and, in some disorders, targeted therapies. Data gained from the higher-resolution microarray methodologies will enhance our knowledge of the genomics of specific disorders, leading to more effective therapeutic strategies. To assist clinical laboratories in validation of the methods, their consistent use, and interpretation and reporting of results from these microarray methodologies, the American College of Medical Genetics and Genomics has developed the following professional standard and guidelines.

  19. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  20. Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.

    Science.gov (United States)

    Maiorana, Arianna; Barbetti, Fabrizio; Boiani, Arianna; Rufini, Vittoria; Pizzoferro, Milena; Francalanci, Paola; Faletra, Flavio; Nichols, Colin G; Grimaldi, Chiara; de Ville de Goyet, Jean; Rahier, Jacques; Henquin, Jean-Claude; Dionisi-Vici, Carlo

    2014-11-01

    Congenital hyperinsulinism (CHI) requires rapid diagnosis and treatment to avoid irreversible neurological sequelae due to hypoglycaemia. Aetiological diagnosis is instrumental in directing the appropriate therapy. Current diagnostic algorithms provide a complete set of diagnostic tools including (i) biochemical assays, (ii) genetic facility and (iii) state-of-the-art imaging. They consider the response to a therapeutic diazoxide trial an early, crucial step before proceeding (or not) to specific genetic testing and eventually imaging, aimed at distinguishing diffuse vs focal CHI. However, interpretation of the diazoxide test is not trivial and can vary between research groups, which may lead to inappropriate decisions. Objective of this report is proposing a new algorithm in which early genetic screening, rather than diazoxide trial, dictates subsequent clinical decisions. Two CHI patients weaned from parenteral glucose infusion and glucagon after starting diazoxide. No hypoglycaemia was registered during a 72-h continuous glucose monitoring (CGMS), or hypoglycaemic episodes were present for no longer than 3% of 72-h. Normoglycaemia was obtained by low-medium dose diazoxide combined with frequent carbohydrate feeds for several years. We identified monoallelic, paternally inherited mutations in KATP channel genes, and (18) F-DOPA PET-CT revealed a focal lesion that was surgically resected, resulting in complete remission of hypoglycaemia. Although rare, some patients with focal lesions may be responsive to diazoxide. As a consequence, we propose an algorithm that is not based on a 'formal' diazoxide response but on genetic testing, in which patients carrying paternally inherited ABCC8 or KCNJ11 mutations should always be subjected to (18) F-DOPA PET-CT. © 2014 John Wiley & Sons Ltd.

  1. Genetic HLA Study of Kurds in Iraq, Iran and Tbilisi (Caucasus, Georgia): Relatedness and Medical Implications

    Science.gov (United States)

    Muñiz, Ester; Campos, Cristina; Alonso-Rubio, Javier; Gomez-Casado, Eduardo; Salih, Shadallah Fareq; Martin-Villa, Manuel; Al-Qadi, Rawand

    2017-01-01

    Kurds from Iraq (Dohuk and Erbil Area, North Iraq) have been analyzed for HLA genes. Their HLA genetic profile has been compared with that of other Kurd groups from Iran and Tbilisi (Georgia, Caucasus) and also Worldwide populations. A total of 7,746 HLA chromosomes have been used. Genetic distances, NJ dendrograms and correspondence analyses have been carried out. Haplotype HLA-B*52—DRB1*15 is present in all three analyzed Kurd populations. HLA-A*02-B*51-DRB1*11 is present in Iraq and Georgia Kurds. Haplotypes common to Iran and Iraq Kurds are HLA DRB1*11—DQB1*03, HLA DRB1*03—DQB1*02 and others in a lower frequency. Our HLA study conclusions are that Kurds most probably belong to an ancient Mediterranean / Middle East / Caucasian genetic substratum and that present results and those previously obtained by us in Kurds may be useful for Medicine in future Kurd transplantation programs, HLA Epidemiology (HLA linked diseases) and Pharmacogenomics (HLA-associated drug side effects) and also for Anthropology. It is discussed that one of the most ancient Kurd ancestor groups is in Hurrians (2,000 years BC). PMID:28114347

  2. [Genetic counseling in the Mental Health Research Center of the Russian Academy of Medical Sciences].

    Science.gov (United States)

    Golimbet, V E; Demikova, N S; Alfimova, M V; Urarova, L G; Lezheĭko, T V; Asanov, A Iu

    2004-01-01

    Current concepts on the role of genetic factors in the development of schizophrenia and on the relative risk for this disease and spectrum disorders are reviewed. An analysis of the results of genetic counseling of 120 subjects revealed that, comparing to other mental disorders, patients with schizophrenia or relatives, mostly those having a schizophrenic parent (40%) or spouse (25%), referred more frequently for a consultation. Most of the referrals (70%) had a high educational level. As it was found out during the counseling, up to 20% of the relatives met a diagnosis of psychiatric disorders, mostly personality disorder (9%) and depressive state (7%). Psychological testing with personality inventories revealed a high level of personality abnormalities (schizoid--22%, hyperthymic--16% and obsessive-anxiety--4%) in 43% close relatives of patients seeking medicogenetic advice. The genetic counseling featured by the use of the comprehensive approach, basing on all obtained data (psychiatric, psychological, neurophysiologic etc.), that increases its accuracy and may assist families in taking a reasonable decision in birth planning.

  3. Dalmatian Sage (Salvia officinalis L.: A Review of Biochemical Contents, Medical Properties and Genetic Diversity

    Directory of Open Access Journals (Sweden)

    Martina Grdiša

    2015-11-01

    Full Text Available Dalmatian sage (Salvia officinalis L. represents one of the most significant medicinal autochthonous species in flora of eastern Adriatic coast and islands. It is evergreen outcrossing perennial subshrub with short woody stems that branch extensively and violet flowers. Apart from being native to Mediterranean karst of west Balkan and Apenine peninsula it is cultivated in numerous countries worldwide with Mediterranean and temperate continental climate. From the earliest times it has been used in traditional medicine in healing gingiva, mouth cavity and the sore throat, against bacterial and fungal infections, for wound treatment, memory enhancement, for treating common cold, against sweating, stomach inflammation, ulcer formation, etc. Its essential oil has also been used in preservation of food and as spice as it gives both specific aroma and promotes digestion of food. The essential oil is extremely complex mixture of different active ingredients; however, the thujones and camphor are the dominant compounds and are the parameter by which S. officinalis is distinguished from other Salvia species. The great variability of essential oil composition and yield has been detected depending on various factors such as genotype, environmental conditions, phonological stage, plant parts used for the extraction of essential oil and drying procedure. Molecular genetic analysis of S. officinalis is still limited and comprises the use of RAPD markers, AFLP and SSR markers in assessing mostly the genetic variability and structure of wild S. officinalis populations.

  4. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

    Science.gov (United States)

    Kearney, Hutton M; Thorland, Erik C; Brown, Kerry K; Quintero-Rivera, Fabiola; South, Sarah T

    2011-07-01

    Genomic microarrays used to assess DNA copy number are now recommended as first-tier tests for the postnatal evaluation of individuals with intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. Application of this technology has resulted in the discovery of widespread copy number variation in the human genome, both polymorphic variation in healthy individuals and novel pathogenic copy number imbalances. To assist clinical laboratories in the evaluation of copy number variants and to promote consistency in interpretation and reporting of genomic microarray results, the American College of Medical Genetics has developed the following professional guidelines for the interpretation and reporting of copy number variation. These guidelines apply primarily to evaluation of constitutional copy number variants detected in the postnatal setting.

  5. Genetic Disorders

    Science.gov (United States)

    ... This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from ... during your lifetime. There are three types of genetic disorders: Single-gene disorders, where a mutation affects ...

  6. Localized past, globalized future: towards an effective bioethical framework using examples from population genetics and medical tourism.

    Science.gov (United States)

    Widdows, Heather

    2011-02-01

    This paper suggests that many of the pressing dilemmas of bioethics are global and structural in nature. Accordingly, global ethical frameworks are required which recognize the ethically significant factors of all global actors. To this end, ethical frameworks must recognize the rights and interests of both individuals and groups (and the interrelation of these). The paper suggests that the current dominant bioethical framework is inadequate to this task as it is over-individualist and therefore unable to give significant weight to the ethical demands of groups (and by extension communal and public goods). It will explore this theme by considering the inadequacy of informed consent (the 'global standard' of bioethics) to address two pressing global bioethical issues: medical tourism and population genetics. Using these examples it will show why consent is inadequate to address all the significant features of these ethical dilemmas. Four key failures will be explored, namely, • That the rights and interests of those related (and therefore affected) are neglected; • That consent fails to take account of the context and commitments of individuals which may constitute inducement and coercion; • That consent alone does not have the ethical weight to negate exploitation or make an unjust action just ('the fallacy of sufficiency'); • That consent is a single one-off act which is inappropriate for the types of decision being made. It will conclude by suggesting that more appropriate models are emerging, particularly in population genetics, which can supplement consent.

  7. Avoiding genetic genocide: understanding good intentions and eugenics in the complex dialogue between the medical and disability communities.

    Science.gov (United States)

    Miller, Paul Steven; Levine, Rebecca Leah

    2013-02-01

    The relationship between the medical and disability communities is complex and is influenced by historical, social, and cultural factors. Although clinicians, health-care researchers, and people with disabilities all work from the standpoint of the best interest of disabled individuals, the notion of what actually is "best" is often understood quite differently among these constituencies. Eugenics campaigns, legal restrictions on reproductive and other freedoms, and prenatal testing recommendations predicated on the lesser worth of persons with disabilities have all contributed toward the historic trauma experienced by the disability community, particularly with respect to medical genetics. One premise of personalized medicine is that different individuals require different solutions. Disabled persons' experiences are a reminder that these solutions can be best realized by maintaining awareness and sensitivity in a complex ethical and moral terrain. Geneticists should recognize that their research may have implications for those with disabilities; they should recognize the impact of the historical trauma of the eugenics movement, and seek to involve people with disabilities in discussions about policies that affect them. Dialogue can be messy and uncomfortable, but it is the only way to avoid the mistakes of the past and to ensure a more equitable, and healthful, future.

  8. Dalmatian Sage (Salvia officinalis L.: A Review of Biochemical Contents, Medical Properties and Genetic Diversity

    Directory of Open Access Journals (Sweden)

    Martina Grdiša

    2016-01-01

    Full Text Available Dalmatian sage (Salvia officinalis L. represents one of the most significant medicinal autochthonous species in flora of eastern Adriatic coast and islands. It is evergreen outcrossing perennial subshrub with short woody stems that branch extensively and violet flowers. Apart from being native to Mediterranean karst of west Balkan and Apenine peninsula it is cultivated in numerous countries worldwide with Mediterranean and temperate continental climate. From the earliest times it has been used in traditional medicine in healing gingiva, mouth cavity and the sore throat, against bacterial and fungal infections, for wound treatment, memory enhancement, for treating common cold, against sweating, stomach inflammation, ulcer formation, etc. Its essential oil has also been used in preservation of food and as spice as it gives both specific aroma and promotes digestion of food. The essential oil is extremely complex mixture of different active ingredients; however, the thujones and camphor are the dominant compounds and are the parameter by which S. officinalis is distinguished from other Salvia species. The great variability of essential oil composition and yield has been detected depending on various factors such as genotype, environmental conditions, phonological stage, plant parts used for the extraction of essential oil and drying procedure. Molecular genetic analysis of S. officinalis is still limited and comprises the use of RAPD markers, AFLP and SSR markers in assessing mostly the genetic variability and structure of wild S. officinalis populations. Flora. 10.1016/j.flora.2012.06.018 Ivan Sostaric 14.00   Normal 0 21 false false false HR X-NONE X-NONE /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin-top:0cm; mso-para-margin-right:0cm; mso

  9. Identificación sanitaria: la huella genética Medical identification: genetic fingerprint

    Directory of Open Access Journals (Sweden)

    M.ªL. Marqués Negredo

    2011-09-01

    Full Text Available Hasta hace poco, la identificación de los restos de las personas desaparecidas se basaban en comparar la información que se tenía de esas personas antes y después de la desaparición o la catástrofe. Hoy en día se ha introducido el análisis del ADN para la completa y fiable identidad de dichas personas. La variabilidad del genoma y la identificación de esa variabilidad a través del estudio de diversos polimorfismos (RFLP, SNP, etc hacen que cada individuo se pueda separar de su semejante con un alto grado de fiabilidad (99'999 % y al mismo tiempo se puede seguir su linaje. Estas técnicas han sido sometidas a procesos de validación y están altamente automatizadas. El sistema "AmpFlSTR® Identifiler™ PCR Amplification Kit" junto con el equipo "ABI Prism® 3130 Genetic Analyzer" de Applied Biosystems permiten la identificación de 15 loci más un marcador de sexo (amelogenina. El sistema CODIS está constituido por 13 STRs de los 15 que analiza este kit.Until recently the identification of human remains was based on comparing the data available of the missing persons before and after their disappearance or the disaster. Nowadays DNA analysis allows complete and reliable identification. The variability of the genome and the identification of that variability through the study of different polymorphisms (RFLP, SNP, etc facilitate the differentiation of individuals with a high degree of reliability (99.999 % and simultaneously follow their lineage. These techniques have been validated and are highly automated. The system "AmpFlSTR® Identifiler™ PCR Amplification Kit", together with the "ABI Prism® 3130 Genetic Analyzer" of Applied Biosystems, allows the identification of 15 loci and one sex marker (amelogenin. The CODIS system is integrated by 13 STR samong the 15 analyzed by this kit.

  10. Risky business: risk perception and the use of medical services among customers of DTC personal genetic testing.

    Science.gov (United States)

    Kaufman, David J; Bollinger, Juli M; Dvoskin, Rachel L; Scott, Joan A

    2012-06-01

    Direct-to-consumer genetic testing has generated speculation about how customers will interpret results and how these interpretations will influence healthcare use and behavior; however, few empirical data on these topics exist. We conducted an online survey of DTC customers of 23andMe, deCODEme, and Navigenics to begin to address these questions. Random samples of U.S. DTC customers were invited to participate. Survey topics included demographics, perceptions of two sample DTC results, and health behaviors following DTC testing. Of 3,167 DTC customers invited, 33% (n = 1,048) completed the survey. Forty-three percent of respondents had sought additional information about a health condition tested; 28% had discussed their results with a healthcare professional; and 9% had followed up with additional lab tests. Sixteen percent of respondents had changed a medication or supplement regimen, and one-third said they were being more careful about their diet. Many of these health-related behaviors were significantly associated with responses to a question that asked how participants would perceive their colon cancer risk (as low, moderate, or high) if they received a test result showing an 11% lifetime risk, as compared to 5% risk in the general population. Respondents who would consider themselves to be at high risk for colon cancer were significantly more likely to have sought information about a disease (p = 0.03), discussed results with a physician (p = 0.05), changed their diet (p = 0.02), and started exercising more (p = 0.01). Participants' personal health contexts--including personal and family history of disease and quality of self-perceived health--were also associated with health-related behaviors after testing. Subjective interpretations of genetic risk data and personal context appear to be related to health behaviors among DTC customers. Sharing DTC test results with healthcare professionals may add perceived utility to the tests.

  11. Knowledge Attitude and Behavior of Medical Technology Vocational Training School Students About Genetically Modified Organisms

    Directory of Open Access Journals (Sweden)

    Safak Taner Gursoy

    2008-12-01

    Full Text Available BACKGROUND: To determine The Medical Technology Vocational Training School (MTVTS students’ the knowledge about the effects of GMO on human health and environment and to evaluate their attitude and behavior has been aimed. METHODS: All of the second class students of the year 2006-2007 of MTVTS were included (N=161 in the study, response rate was 92%. The survey questionare included questions on knowledge, the risk perception and attitute about GMOs. The legal framework in Turkey about GMOs, the rationale for GMO production, the labeling for GMO and the students’ perception of their knowledge was evaluated through 14 items with Likert scale. After the questionaire, the students received an informative brochure on GMOs. RESULTS: The open-ended question asking to define GMOs was answered by 59,2% of the students among which 35,6% defined as “additive”, 34,5% as “food with hormones”. The risk perceived for GMOs was the forth following cigarette smoking, stres, and environmental pollution in the ranking according to the risk score means. Sex has been the only determinant effecting this scoring for GMOs where girls perceived the risk greater. If family was one of the information sources about GMOs, the perceived risk was increased (p=0,000. Among the students 81,6% thought that GMO should not be grown in Turkey, 77,7% think that GMO was sold however. The leading topic of ambivalence is the state of self knowledge on GMO. The low income group are less concerned about consuming GMO for themselves or for their children (respectively p==0.003 ve p=0,012. CONCLUSION: Health workers are assigned with an important role to inform the public for healthy eating. However although the the risk perception of the study group for GMOs is high, their knowledge is low. Training activities to supply this deficiency should be implemented. [TAF Prev Med Bull 2008; 7(6.000: 503-508

  12. Exploration and implementation for the construction of the quaternary teaching system of medical genetics including teaching, practice, research and clinical application.

    Science.gov (United States)

    Fengjuan, Zhou; Wenmei, Xie; Qiang, Wang; Xiaorong, Zhao

    2015-09-01

    Medical genetics, the connection between basic and clinical medicine, is a subject with strong applicability and plays important role in modern medical education system. Based on years of teaching experience and during the construction of state-level top quality course, our teaching team has established the quaternary teaching system of medical genetics which includes teaching, practice, research and clinical application. The four elements of the system interpenetrate, complement and reinforce each other. Specifically, classroom teaching is the basics which is further complemented by social practice, improved by research and promoted by clinical application. The quaternary teaching system provides a feasible way to integrate theoretical and clinical courses. After years of implementation, the teaching system has got great effects on the obvious improvement of research ability, social reputation and clinical service capacities of the research team.

  13. Cell-Type-Specific Differentiation and Molecular Profiles in Skin Transplantation: Implication of Medical Approach for Genetic Skin Diseases

    Directory of Open Access Journals (Sweden)

    Noritaka Oyama

    2011-01-01

    Full Text Available Skin is highly accessible and valuable organ, which holds promise to accelerate the understanding of future medical innovation in association with skin transplantation, engineering, and wound healing. In skin transplantation biology, multistage and multifocal damages occur in both grafted donor and perilesional host skin and need to be repaired properly for the engraftment and maintenance of characteristic skin architecture. These local events are more unlikely to be regulated by the host immunity, because human skin transplantation has accomplished the donor skin engraftment onto the immunocompromised or immunosuppressive animals. Recent studies have emerged the importance of α-smooth muscle actin- (SMA- positive myofibroblasts, via stage- and cell-specific contribution of TGFβ, PDGF, ET-1, CCN-2 signalling pathways, and mastocyte-derived mediators (e.g., histamine and tryptase, for the functional reorganisation of the grafted skin. Moreover, particular cell lineages from bone marrow (BM cells have been shown to harbour the diferentiation capacity into multiple skin cell phenotypes, including epidermal keratinocytes and dermal endothelial cells and pericytes, undercontrolled by chemokines or cytokines. From a dermatological viewpoint, we review the recent update of cell-type- and molecular-specific action associated with reconstitution of the grafted skin and also focus on the novel application of BM transplantation medicine in genetic skin diseases.

  14. Revised sections F7.5 (quantitative amino acid analysis) and F7.6 (qualitative amino acid analysis): American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories, 2003.

    Science.gov (United States)

    Grier, Robert E; Gahl, William A; Cowan, Tina; Bernardini, Isa; McDowell, Geraldine A; Rinaldo, Piero

    2004-01-01

    Determination of plasma amino acid levels has become a key piece of information in the diagnosis and clinical management of a group of metabolic genetic disorders. Appropriate laboratory methodologies have been published for amino acid analysis, yet there is a need for direction for the laboratory in performing this testing. The following guidelines were generated by a working group of the American College of Medical Genetics Laboratory Quality Assurance Committee. Based upon a body of knowledge and professional experience, these guidelines and standards are to be the benchmark for performance of amino acid analysis for clinical interpretation.

  15. A Bivariate Genetic Analysis of Drug Abuse Ascertained Through Medical and Criminal Registries in Swedish Twins, Siblings and Half-Siblings.

    Science.gov (United States)

    Maes, Hermine H; Neale, Michael C; Ohlsson, Henrik; Zahery, Mahsa; Lichtenstein, Paul; Sundquist, Kristina; Sundquist, Jan; Kendler, Kenneth S

    2016-11-01

    Using Swedish nationwide registry data, the authors investigated the correlation of genetic and environmental risk factors in the etiology of drug abuse as ascertained from medical and criminal registries by modeling twin and sibling data. Medical drug abuse was defined using public inpatient and outpatient records, while criminal drug abuse was ascertained through legal records. Twin, full and half sibling pairs were obtained from the national twin and genealogical registers. Information about sibling pair residence within the same household was obtained from Statistics Sweden. Standard bivariate genetic structural equation modeling was applied to the population-based data on drug abuse ascertained through medical and crime registries, using OpenMx. Analyses of all possible pairs of twins (MZ: N = 4482; DZ: N = 9838 pairs), full- (N = 1,278,086) and half-siblings (paternal: N = 7767; maternal N = 70,553) who grew up together suggested that factors explaining familial resemblance for drug abuse as defined through medical or criminal registries were mostly the same. Results showed substantial heritability and moderate contributions of shared environmental factors to drug abuse; both were higher in males versus females, and higher for drug abuse ascertained through criminal than medical records. Because of the low prevalence of both assessments of drug abuse, having access to population data was crucial to obtain stable estimates. Using objective registry data, the authors found that drug abuse-whether ascertained through medical versus criminal records-was highly heritable. Furthermore, shared environmental factors contributed significantly to the liability of drug abuse. Genetic and shared environmental risk factors for these two forms of drug abuse were highly correlated.

  16. Does a medical history of hypertension influence disclosing genetic testing results of the risk for salt-sensitive hypertension, in primary care?

    Directory of Open Access Journals (Sweden)

    Okayama M

    2016-07-01

    Full Text Available Masanobu Okayama,1,2 Taro Takeshima,2 Masanori Harada,3 Ryusuke Ae,4 Eiji Kajii2 1Division of Community Medicine and Medical Education, Kobe University Graduate School of Medicine, Kobe, Hyogo, 2Division of Community and Family Medicine, Center for Community Medicine, Jichi Medical University, Shimotsuke, Tochigi, 3Department of Support of Rural Medicine, Yamaguchi Grand Medical Center, Hofu, Yamaguchi, 4Division of Public Health, Center for Community Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan Objective: Disclosing genetic testing results may contribute to the prevention and management of many common diseases. However, whether the presence of a disease influences these effects is unclear. This study aimed to clarify the difference in the effects of disclosing genetic testing results of the risk for developing salt-sensitive hypertension on the behavioral modifications with respect to salt intake in hypertensive and nonhypertensive patients.Methods: A cross-sectional study using a self-administered questionnaire was conducted for outpatients aged >20 years (N=2,237 at six primary care clinics and hospitals in Japan. The main factors assessed were medical histories of hypertension, salt preferences, reduced salt intakes, and behavior modifications for reducing salt intake. Behavioral modifications of participants were assessed using their behavior stages before and after disclosure of the hypothetical genetic testing results. Results: Of the 2,237 participants, 1,644 (73.5% responded to the survey. Of these respondents, 558 (33.9% patients were hypertensive and 1,086 (66.1% were nonhypertensive. After being notified of the result “If with genetic risk”, the nonhypertensive participants were more likely to make positive behavioral modifications compared to the hypertensive patients among all participants and in those aged <65 years (adjusted relative ratio [ad-RR], 1.76; 95% confidence interval, 1.12−2.76 and ad-RR, 1

  17. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

    Science.gov (United States)

    Richards, Sue; Aziz, Nazneen; Bale, Sherri; Bick, David; Das, Soma; Gastier-Foster, Julie; Grody, Wayne W; Hegde, Madhuri; Lyon, Elaine; Spector, Elaine; Voelkerding, Karl; Rehm, Heidi L

    2015-05-01

    The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of sequence variants.(1) In the past decade, sequencing technology has evolved rapidly with the advent of high-throughput next-generation sequencing. By adopting and leveraging next-generation sequencing, clinical laboratories are now performing an ever-increasing catalogue of genetic testing spanning genotyping, single genes, gene panels, exomes, genomes, transcriptomes, and epigenetic assays for genetic disorders. By virtue of increased complexity, this shift in genetic testing has been accompanied by new challenges in sequence interpretation. In this context the ACMG convened a workgroup in 2013 comprising representatives from the ACMG, the Association for Molecular Pathology (AMP), and the College of American Pathologists to revisit and revise the standards and guidelines for the interpretation of sequence variants. The group consisted of clinical laboratory directors and clinicians. This report represents expert opinion of the workgroup with input from ACMG, AMP, and College of American Pathologists stakeholders. These recommendations primarily apply to the breadth of genetic tests used in clinical laboratories, including genotyping, single genes, panels, exomes, and genomes. This report recommends the use of specific standard terminology-"pathogenic," "likely pathogenic," "uncertain significance," "likely benign," and "benign"-to describe variants identified in genes that cause Mendelian disorders. Moreover, this recommendation describes a process for classifying variants into these five categories based on criteria using typical types of variant evidence (e.g., population data, computational data, functional data, segregation data). Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends that clinical molecular genetic testing should be performed in a

  18. Novel Techniques and Their Wide Applications to Health Foods, Medical and Agricultural Biotechnology in Relation to Policy Making on Genetically Modified Crops and Foods

    CERN Document Server

    Baianu, I C; Lozano, P; Lin, H C

    2004-01-01

    Selected applications of novel techniques in Agricultural Biotechnology, Health Food formulations and Medical Biotechnology are being reviewed with the aim of unraveling future developments and policy changes that are likely to open new markets for Biotechnology and prevent the shrinking or closing of existing ones. Amongst the selected novel techniques with applications in both Agricultural and Medical Biotechnology are: immobilized bacterial cells and enzymes, microencapsulation and liposome production, genetic manipulation of microorganisms, development of novel vaccines from plants, epigenomics of mammalian cells and organisms, and biocomputational tools for molecular modeling related to disease and Bioinformatics. Both fundamental and applied aspects of the emerging new techniques are being discussed in relation to their anticipated, marked impact on future markets and present policy changes that are needed for success in either Agricultural or Medical Biotechnology. The novel techniques are illustrated ...

  19. Interest and attitudes of patients, cancer physicians, medical students and cancer researchers towards a spectrum of genetic tests relevant to breast cancer patients.

    Science.gov (United States)

    Ngoi, Natalie; Lee, Soo-Chin; Hartman, Mikael; Khin, Lay-Wai; Wong, Andrea

    2013-02-01

    The perspectives of patients and healthcare professionals towards breast cancer genetic tests that are becoming increasingly available is unexplored in Asians. We surveyed the interest and attitudes of 200 breast cancer patients, 67 cancer physicians, 485 medical students and cancer researchers towards three genetic tests, BRCA1/2 mutation, CYP2D6 genotype and Oncotype DX testing, using hypothetical scenarios. Approximately 60% of patients expressed initial interest in each genetic test, although the majority reversed their decisions once test limitations were conveyed, with <15% maintaining interest in each test. Cancer physicians were most likely to recommend BRCA1/2 mutation testing (73%) and least likely to recommend CYP2D6 genotyping (12%), while patients were more likely to choose Oncotype DX testing (28%) over CYP2D6 (21%) and BRCA1/2 testing (15%). Cost concerns, low educational level and lack of prior awareness of genetic testing were the main barriers against breast cancer genetic testing among Asian patients.

  20. 美国的医学遗传检测%Medical genetic testing in the United States

    Institute of Scientific and Technical Information of China (English)

    Bin CHEN; Linda A. BRADLEY

    2006-01-01

    @@ Genetic tests for about 1 000 health conditions have been developed, of which more than 600 are currently available for clinical testing[1]. Many genetic tests identify DNA variants; others measure biochemical markers or analyze chromosomes. Most are used for diagnosis of rare single-gene disorders or chromosome abnormalities, and a few are used for newborn screening[2]. A growing number of genetic tests may have population-based applications. This includes determining the risk of developing a disease or condition in the future (e.g., predictive testing for breast cancer or cardiovascular disease), and recognizing genetic variations that can influence response to medicines (pharmacogenomics). These genetic tests, therefore, have the potential for broad public health impact.

  1. ACTING OF THE MEDICAL GENETIC ADVISORY CENTER IN THE EARLY DETECTION AND PREVENTION OF PERSONS WITH PSHYCHOPHYSICAL DISORDERS IN THEIR DEVELOPMENT

    Directory of Open Access Journals (Sweden)

    M. KJAEVA-PEJKOVSKA

    1997-03-01

    Full Text Available There had been a great dedication on the prevention of the acquired disease in the past. The well known are eugenetic advisory centers in which people could get information for a given inherited disease, later so called genetic advisory centers. Their work, besides is based on the principles of informing the patients for the difficulties, importance and prognoses of determined inherited disease. This activity, which is the highest achievement in the medical genetics, can be called genetic information, which is very important for regular treatment of every patient.The accurate etiological diagnosis is an essential precondition for giving the genetic information, assessment of the risk, the eventual treatment, as for the prenatal diagnosis e.i. prevention of congenital malformations.The genetic consulting is applicable in all possible phenotype manifestations of the breaking genes, regardless to the categorical custody of the examinees with retards in their development. In fact, that’s a summary of standards which are applicable in the basic prevention in disabilities in the psycho-physical development, whose reasons are genetically determined. Preventive activities are mostly used with mentally retarded as a result of the frequent intercession of the psychological disorders all together in different syndromes and diseases.The genetic consulting activities of the Center for Mental Health for children and adolescents in Skopje are based on the appliance of the following methodology: fortification of the risk for the appearance of inherited anomalies; explanation and assessment of the established risk in the concrete family situation, assurance of adequate assistance concerning the accurate and practical assessment of the risk and preparation of rational plan for subsequent treatment and decisions; consequent observation of the situations and evaluation of achieved results etc. In that way, the acting of medical-genetic advising center in the

  2. Results of an intervention for individuals and families with BRCA mutations: a model for providing medical updates and psychosocial support following genetic testing.

    Science.gov (United States)

    McKinnon, Wendy; Naud, Shelly; Ashikaga, Taka; Colletti, Rose; Wood, Marie

    2007-08-01

    : Providing medical management updates and long-term support to families with hereditary cancer syndromes in rural areas is a challenge. To address this, we designed a one-day retreat for BRCA1/2 carriers in our region. The retreat included educational updates about medical management, genetic privacy and discrimination, and addressed psychological and family issues. Evaluations completed at the conclusion of the retreat were overwhelmingly positive with requests for a similar event in the future. The impact of this retreat on a variety of health behaviors was assessed. Eligible participants completed questionnaires before and 6 months after the retreat. Questionnaires focused on lifestyle, cancer screening and prevention practices, psychological history and distress, decision-making regarding genetic testing, and family communication issues. For individuals who completed both the pre and post retreat questionnaires, one-half made lifestyle changes and nearly two-thirds increased cancer screening, initiated chemoprevention, completed or planned to complete preventative surgery in the future. We conclude that this type of forum provides a valuable opportunity for BRCA carriers and their families to receive updated medical information, share personal experiences, provide and receive support, as well as change health behaviors.

  3. Genetic Counseling Technology Service Platform on Promoting the Construction of Medical Genetics Course%论遗传咨询科技服务平台对医学遗传学课程建设的促进作用

    Institute of Scientific and Technical Information of China (English)

    罗佳滨; 朱金玲; 张春斌; 张虎; 刘爽

    2011-01-01

    遗传咨询工作是临床遗传学的重要组成部分.开放式的遗传咨询科技服务平台,构建了课外学习与课堂教学有机结合,师生互动的立体化教学体系,实践证明有利于提高学生综合素质,并有助于全面提升教师的教学素养,达到教学相长的目的.对医学遗传学课程建设起到了促进作用.%Genetic counseling work is an important component of clinical genetics. Open mode of genetic counseling technology service platform, constucts the extrcurricular leamling and teaching organically, teacher-student interaction of three-dimensional teaching body, Practise prove to raise students' comprehensive quality, and to raise the overall teachers' teaching quality, achieve teacher-and-stu-dents pupose, For medical genetics course construction plays a role in promoting.

  4. Genetic Counseling Technology Service Platform on Promoting the Construction of Medical Genetics Course%论遗传咨询科技服务平台对医学遗传学课程建设的促进作用

    Institute of Scientific and Technical Information of China (English)

    罗佳滨; 朱金玲; 张春斌; 张虎; 刘爽

    2011-01-01

    遗传咨询工作是临床遗传学的重要组成部分.开放式的遗传咨询科技服务平台,构建了课外学习与课堂教学有机结合,师生互动的立体化教学体系,实践证明有利于提高学生综合素质,并有助于全面提升教师的教学素养,达到教学相长的目的.对医学遗传学课程建设起到了促进作用.%Genetic counseling work is an important component of clinical genetics. Open mode of genetic counseling technology service platform, constucts the extrcurricular learnling and teaching organically, teacher-student interaction of three-dimensional teaching body, Practise prove to raise students' comprehensive quality, and to raise the overall teachers' teaching quality, achieve teacher-and-stu-dents pupose, For medical genetics course construction plays a role in promoting.

  5. WHAT ROLE SHOULD PUBLIC OPINION PLAY IN ETHICO-LEGAL DECISION MAKING? THE EXAMPLE OF SELECTING SEX FOR NON-MEDICAL REASONS USING PREIMPLANTATION GENETIC DIAGNOSIS.

    Science.gov (United States)

    Fovargue, Sara; Bennett, Rebecca

    2016-01-01

    In this article, we consider the prohibition on the use of preimplantation genetic diagnosis to select an embryo on the basis of its sex for non -: medical reasons. We use this as a case study to explore the role that public consultations have and should play in ethico-legal decision-making. Until the Human Fertilisation and Embryology Act 1990 was amended by the Human Fertilisation and Embryology Act 2008, non-medical sex selection of an embryo was not statutorily regulated, but it was the policy of the Human Fertilisation and Embryology Authority that such selection should not occur. However, since 2009, it has been a criminal offence to select an embryo on the basis of its sex for non-medical reasons. We consider the reasons given for this change and explore the role that 'public opinion' had in the decision-making process. On the face of it, asking the public what they think seems reasonable, fair and democratic, and those who are not in favour of public consultations being accorded great weight in matters of policy may appear out of touch and as wanting to impose their moral views on the public at large. But there are problems with doing so, especially when seeking to regulate ethically controversial issues. We discuss whether regulation should be influenced by public opinion obtained via 'public consultations', and utilise sex selection for non-medical reasons as an example of how (apparently) public opinion was used to support the criminalisation of this practice.

  6. The Anatomy to Genomics (ATG Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum

    Directory of Open Access Journals (Sweden)

    Glenn S. Gerhard

    2016-10-01

    Full Text Available Abstract Background The increasing use of next generation DNA sequencing in clinical medicine is exposing the need for more genetics education in physician training. We piloted an initiative to determine the feasibility of incorporating exome sequencing data generated from DNA obtained from cadavers used for teaching Anatomy into a first year medical student integrated block-style course. Methods We optimized the procedure to obtain DNA for exome sequencing by comparing the quality and quantity of DNA isolated from several tissues by two different extraction methods. DNA was sequenced using exome capture and analyzed using standard methods. Single nucleotide variants (SNVs, as well as small insertions/deletions, with potential functional impact were selected by faculty for student teams to independently investigate and prepare presentations on their findings. Results A total of seven cadaver DNAs were sequenced yielding high quality results. SNVs were identified that were associated, with known physical traits and disease susceptibility, as well as pharmacogenomic phenotypes. Students presented findings based on correlation with known clinical information about the cadavers’ diseases and traits. Conclusion Exome sequencing of cadaver DNA is a useful tool to integrate Anatomy with Genetics and Biochemistry into a first year medical student core curriculum.

  7. Simulation based Virtual Learning Environment in Medical Genetics Counseling: An example of Bridging the Gap between Theory and Practice in Medical Education

    DEFF Research Database (Denmark)

    Makransky, Guido; Bonde, Mads Tvillinggaard; Wulff, Julie S. G.

    2016-01-01

    Background: Simulation based learning environments are designed to improve the quality of medical education by allowing students to interact with patients, diagnostic laboratory procedures, and patient data in a virtual environment. However, few studies have evaluated whether simulation based...... learning environments increase students’ knowledge, intrinsic motivation, and self-efficacy, and help them generalize from laboratory analyses to clinical practice and health decision-making. Methods: An entire class of 300 University of Copenhagen first-year undergraduate students, most with a major...... in medicine, received a 2-hour training session in a simulation based learning environment. The main outcomes were pre- to post- changes in knowledge, intrinsic motivation, and self-efficacy, together with post-intervention evaluation of the effect of the simulation on student understanding of everyday...

  8. American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.

    Science.gov (United States)

    Alford, Raye L; Arnos, Kathleen S; Fox, Michelle; Lin, Jerry W; Palmer, Christina G; Pandya, Arti; Rehm, Heidi L; Robin, Nathaniel H; Scott, Daryl A; Yoshinaga-Itano, Christine

    2014-04-01

    Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of etiologies. The diverse causes of hearing loss, combined with the highly variable and often overlapping presentations of different forms of hearing loss, challenge the ability of traditional clinical evaluations to arrive at an etiologic diagnosis for many deaf and hard-of-hearing individuals. However, identifying the etiology of a hearing loss may affect clinical management, improve prognostic accuracy, and refine genetic counseling and assessment of the likelihood of recurrence for relatives of deaf and hard-of-hearing individuals. Linguistic and cultural identities associated with being deaf or hard of hearing can complicate access to and the effectiveness of clinical care. These concerns can be minimized when genetic and other health-care services are provided in a linguistically and culturally sensitive manner. This guideline offers information about the frequency, causes, and presentations of hearing loss and suggests approaches to the clinical evaluation of deaf and hard-of-hearing individuals aimed at identifying an etiologic diagnosis and providing informative and effective patient education and genetic counseling.

  9. Genetic markers as a predictive tool based on statistics in medical practice: ethical considerations through the analysis of the use of HLA-B27 in rheumatology in France

    Directory of Open Access Journals (Sweden)

    Hélène eColineaux

    2015-10-01

    Full Text Available INTRODUCTION. The use of genetic predictive markers in medical practice does not necessarily bear the same kind of medical and ethical consequences than that of genes directly involved in monogenic diseases. However, the French bioethics law framed in the same way the production and use of any genetic information. It seems therefore necessary to explore the practical and ethical context of the actual use of predictive markers in order to highlight their specific stakes. In this study, we document the uses of HLA-B*27, which are an interesting example of the multiple features of genetic predictive marker in general medical practice.MATERIAL & METHODS. The aims of this monocentric and qualitative study were to identify concrete and ethical issues of using the HLA-B*27 marker and the interests and limits of the legal framework as perceived by prescribers. In this regard, a thematic and descriptive analysis of five rheumatologists’ semi-structured and face-to-face interviews was performed.RESULTS. According to most of the interviewees, HLA-B*27 is an overframed test because they considered that this test is not really genetic or at least does not have the same nature as classical genetic tests; HLA-B*27 is not concerned by the ethical challenges of genetic test; the major ethics stake of this marker is not linked to its genetic nature but rather to the complexity of the probabilistic information. This study allows also showing that HLA-B*27, validated for a certain usage, may be used in different ways in practice.DISCUSSION. This marker and its clinical uses underline the challenges of translating both statistical concepts and unifying legal framework in clinical practice. This study allows identifying some new aspects and stakes of genetics in medicine and shows the need of additional studies about the use of predictive genetic markers, in order to provide a better basis for decisions and legal framework regarding these practices.

  10. Repeated-measure validation of craniofacial metrics from three-dimensional surface scans: application to medical genetics

    Science.gov (United States)

    Lauer, Eric A.; Corner, Brian D.; Li, Peng; Beecher, Robert M.; Deutsch, Curtis

    2002-03-01

    Traditionally, medical geneticists have employed visual inspection (anthroposcopy) to clinically evaluate dysmorphology. In the last 20 years, there has been an increasing trend towards quantitative assessment to render diagnosis of anomalies more objective and reliable. These methods have focused on direct anthropometry, using a combination of classical physical anthropology tools and new instruments tailor-made to describe craniofacial morphometry. These methods are painstaking and require that the patient remain still for extended periods of time. Most recently, semiautomated techniques (e.g., structured light scanning) have been developed to capture the geometry of the face in a matter of seconds. In this paper, we establish that direct anthropometry and structured light scanning yield reliable measurements, with remarkably high levels of inter-rater and intra-rater reliability, as well as validity (contrasting the two methods).

  11. An automatic scanning method for high throughput microscopic system to facilitate medical genetic diagnosis: an initial study

    Science.gov (United States)

    Qiu, Yuchen; Chen, Xiaodong; Li, Zheng; Li, Yuhua; Chen, Wei R.; Zheng, Bin; Li, Shibo; Liu, Hong

    2012-03-01

    The purpose of this paper is to report a new automatic scanning scheme for high throughput microscopic systems aiming to facilitate disease diagnosis in genetic laboratories. To minimize the impact of the random vibration and mechanical drifting of the scanning stage in microscopic image acquisition, auto-focusing operations are usually applied repeatedly during the scanning process. Such methods ensure the acquisition of well focused images for clinical diagnosis, but are time consuming. The technique investigated in this preliminary study applies the auto-focusing operations at a limited number of locations on the slide. For the rest of the imaging field, the focusing position is quickly adjusted through linear interpolation. In this initial validation study, blood pathological slides containing both metaphase and interphase cells are scanned. For a selected area of 6.9mm×6.9mm, a number of 2×2, 3×2, 3×3, and 4×4 positions are evenly sampled for auto-focusing operations. Respectively, 25, 29, 40, and 41 clinically meaningful cells are identified for each sampling scheme. For the specific case investigated, the results demonstrate that the 4 position auto-focusing scheme could obtain the adequate number of clinically meaningful cells for the diagnosis. The schemes with more auto-focusing operations provide an option for high reliability diagnosis when clinically necessary. More comprehensive research is planned, and that may lead to optimal design of trade-off for developing the scanning scheme of the high throughput microscopic systems.

  12. Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC).

    Science.gov (United States)

    Habahbeh, Lana Ayesh; Hiary, Mansour Al; Zaben, Samar F Al; Al-Momani, Asim; Khasawneh, Rame; Mallouh, Mervat Abu; Farahat, Hayab

    2015-12-01

    To describe the spectrum of genetic mutations in patients with clinical diagnosis of Familial Mediterranean Fever. This is a retrospective study of 3359 sera samples for patient with clinical diagnosis of FMF, over a period of 6 years. The samples were tested for 12 mutations of the MEFV gene by PCR& hybridization of the PCR product with Probes immobilized as an array of panel lines. A total of 1868 (55.6%) samples were found negative, and one or more mutations were detected in 1491 (44.4%) distributed along the mutations. Of the positive results, the Frequency of the mutations was as follows, the M694V was the most common mutation 30%, followed by E 148Q 21.5%, V 726 A 20%, M6801 G/C 9%, M6941 8.3%, P369s 3.7%, A744S 3.1% and 4.2% among the 4 remaining mutations. Frequency of common mutations in our study show similar results in comparisons with Mediterranean countries like Egypt, Turkey, and Syria with the most common mutation in our study being M694V followed by E148 Q.

  13. Progression of Left Ventricular Dysfunction and Remodelling under Optimal Medical Therapy in CHF Patients: Role of Individual Genetic Background

    Directory of Open Access Journals (Sweden)

    Marzia Rigolli

    2011-01-01

    Full Text Available Background. Neurohormonal systems play an important role in chronic heart failure (CHF. Due to interindividual heterogeneity in the benefits of therapy, it may be hypothesized that polymorphisms of neurohormonal systems may affect left ventricular (LV remodelling and systolic function. We aimed to assess whether genetic background of maximally treated CHF patients predicts variations in LV systolic function and volumes. Methods and Results. We prospectively studied 131 CHF outpatients on optimal treatment for at least six months. Echocardiographic evaluations were performed at baseline and after 12 months. Genotype analysis for ACE I/D, β1adrenergic receptor (AR Arg389Gly, β2AR Arg16Gly, and β2AR Gln27Glu polymorphisms was performed. No differences in baseline characteristics were detected among subgroups. ACE II was a significant predictor of improvement of LV end-diastolic and end-systolic volume (=.003 and =.002, respectively but not of LV ejection fraction (LVEF; β1AR389 GlyGly was related to improvement of LVEF (=.02 and LV end-systolic volume (=.01. The predictive value of polymorphisms remained after adjustment for other clinically significant predictors (<.05 for all. Conclusions. ACE I/D and β1AR Arg389Gly polymorphisms are independent predictors of reverse remodeling and systolic function recovery in CHF patients under optimal treatment.

  14. Genetic Romanticism

    DEFF Research Database (Denmark)

    Tupasela, Aaro

    2016-01-01

    . This article compares and contrasts the work of two doctors in Finland, Elias Lönnrot and Reijo Norio, working over a century and a half apart, to examine the ways in which they have contributed to the formation of national identity and unity. The notion of genetic romanticism is introduced as a term...... to complement the notion of national romanticism that has been used to describe the ways in which nineteenth-century scholars sought to create and deploy common traditions for national-romantic purposes. Unlike national romanticism, however, strategies of genetic romanticism rely on the study of genetic...... inheritance as a way to unify populations within politically and geographically bounded areas. Thus, new genetics have contributed to the development of genetic romanticisms, whereby populations (human, plant, and animal) can be delineated and mobilized through scientific and medical practices to represent...

  15. Medical genetics is playing an important role in the public health care in China Conference Report for The International Conference of Medical Genetics 2004, Beijing (ICMG 2004, Beijing)%医学遗传学在中国公共卫生事业中发挥重要作用--北京2004医学遗传学国际学术研讨会报告

    Institute of Scientific and Technical Information of China (English)

    Tian-Jian CHEN; Nanbert Zhong

    2005-01-01

    The International Conference of Medical Genetics 2004 (ICMG2004) was held at Peking University Health Science Center on July 14-18, 2004. This conference is a part of the series that have been organized by the North American Association of Chinese Medical Geneticists (NAACMG) and the Chinese Medical Genetics Association (CMGA) and was initialized by the year of 2000 at Nanjing (ICMG2000, Nanjing). The mission of the series is to promote research, education, and clinical practice on medical genetics in China as well as in south Asian countries. This year, more than 200 participants from Mainland China, Taiwan, Hong Kong, England, and United States attended the ICMG2004. The conference opened with a remark addressed by Dr. Qi-de Han, the Vice Chairman of the Standing Committee of National Congress, who is the Director of Peking University Health Science Center and the Executive President of Peking University. Dr. Owen Rennet, Scientific Director of NICHD, NIH, gave a keynote speech at the opening session. Six sessions, chaired by Drs. Virginia Anderson, Wai-Yee Chan, Tian-jian Chen, Jiang Gu, Jian Han, Tao-Sheng Huang, Marilyn Li, Gary Lu, Ming Qi, Bai-Lin Wu, Nanbert Zhong, Chun-Yan Zhou, have covered various aspects of medical genetics with focus on birth defect, which is different from the main focus of neurogenetic disorders at ICMG2000. These aspects include inborn error of metabolism, intervention of birth defects, prenatal diagnosis and newborn screening, chromosome abnormalities, molecular basis of genetic disorders, environmental factors and birth defects, and genetic counseling and clinical management.

  16. Basic concepts of medical genetics

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2012-04-20

    Apr 20, 2012 ... protein or a non-mRNA molecule responsible for mediating that particular biological .... The process of gene transcription and synthesis of the mes- senger RNA .... and several transcription factors and RNA polymerase II have been shown to be mod- .... The molecular mechanics of eukaryotic translation.

  17. Genetics in psychiatry.

    Science.gov (United States)

    Umesh, Shreekantiah; Nizamie, Shamshul Haque

    2014-04-01

    Today, psychiatrists are focusing on genetics aspects of various psychiatric disorders not only for a future classification of psychiatric disorders but also a notion that genetics would aid in the development of new medications to treat these disabling illnesses. This review therefore emphasizes on the basics of genetics in psychiatry as well as focuses on the emerging picture of genetics in psychiatry and their future implications.

  18. Basic genetics for dermatologists

    Directory of Open Access Journals (Sweden)

    Muthu Sendhil Kumaran

    2013-01-01

    Full Text Available During the past few decades, advances in the field of molecular genetics have enriched us in understanding the pathogenesis of diseases, their identification, and appropriate therapeutic interventions. In the last 20 years, genetic basis of more than 350 monogenic skin diseases have been elucidated and is counting. The widespread use of molecular genetics as a tool in diagnosis is not practiced routinely due to genetic heterogenicity, limited access and low sensitivity. In this review, we have presented the very basics of genetics so as to enable dermatologists to have working understanding of medical genetics.

  19. Genetics Home Reference: glycogen storage disease type I

    Science.gov (United States)

    ... Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics. Diagnosis and management of glycogen storage disease type ... practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014 Nov;16(11):e1. Citation ...

  20. Ototoxic Medications (Medication Effects)

    Science.gov (United States)

    ... Information for the Public / Hearing and Balance Ototoxic Medications (Medication Effects) By Barbara Cone, Patricia Dorn, Dawn Konrad- ... Audiology Information Series [PDF]. What Is Ototoxicity? Certain medications can damage the ear, resulting in hearing loss, ...

  1. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

    Science.gov (United States)

    Kalia, Sarah S; Adelman, Kathy; Bale, Sherri J; Chung, Wendy K; Eng, Christine; Evans, James P; Herman, Gail E; Hufnagel, Sophia B; Klein, Teri E; Korf, Bruce R; McKelvey, Kent D; Ormond, Kelly E; Richards, C Sue; Vlangos, Christopher N; Watson, Michael; Martin, Christa L; Miller, David T

    2017-02-01

    Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical services. Adherence to these recommendations is completely voluntary and does not necessarily assure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed toward obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this statement. Clinicians also are advised to take notice of the date this statement was adopted and to consider other medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.To promote standardized reporting of actionable information from clinical genomic sequencing, in 2013, the American College of Medical Genetics and Genomics (ACMG) published a minimum list of genes to be reported as incidental or secondary findings. The goal was to identify and manage risks for selected highly penetrant genetic disorders through established interventions aimed at preventing or significantly reducing morbidity and mortality. The ACMG subsequently established the Secondary Findings Maintenance Working Group to develop a process for curating and updating the list over time. We describe here the new process for accepting and evaluating nominations for updates to the secondary findings list. We also report outcomes from six nominations received in the initial 15 months after

  2. What Are the Risks and Limitations of Genetic Testing?

    Science.gov (United States)

    ... testing? What are the risks and limitations of genetic testing? The physical risks associated with most genetic tests ... more information about the risks and limitations of genetic testing: The American College of Medical Genetics and Genomics ( ...

  3. Human heredity and politics: A comparative institutional study of the Eugenics Record Office at Cold Spring Harbor (United States), the Kaiser Wilhelm Institute for Anthropology, Human Heredity, and Eugenics (Germany), and the Maxim Gorky Medical Genetics Institute (USSR).

    Science.gov (United States)

    Adams, Mark B; Allen, Garland E; Weiss, Sheila Faith

    2005-01-01

    Despite the fact that much has been written in recent years about the science of heredity under the Third Reich, there is as yet no satisfying analysis of two central questions: What, if anything, was peculiarly "Nazi" about human genetics under National Socialism? How, under whatever set of causes, did at least some of Germany's most well-known and leading biomedical practioners become engaged in entgrenzte Wissenschaft (science without moral boundaries)? This paper attempts to provide some answers to these two questions comparing three institutes that studied eugenics and human heredity in the 1920s and 1930s: the Eugenics Record Office at Cold Spring Harbor, New York, directed by Charles B. Davenport; the Kaiser Wilhelm Institute for Anthropology, Human Heredity and Eugenics, in Berlin, directed by Eugen Fischer; and the Maxim Gorky Medical Genetics Institute in Moscow, directed by Solomon G. Levit. The institutes are compared on the basis of the kind and quality of their research in eugenics and medical genetics, organizational structure, leadership, patronage (private or state), and the economic-social-political context in which they functioned.

  4. Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine.

    Science.gov (United States)

    Edwards, Janice G; Feldman, Gerald; Goldberg, James; Gregg, Anthony R; Norton, Mary E; Rose, Nancy C; Schneider, Adele; Stoll, Katie; Wapner, Ronald; Watson, Michael S

    2015-03-01

    The Perinatal Quality Foundation and the American College of Medical Genetics and Genomics, in association with the American College of Obstetricians and Gynecologists, the Society for Maternal-Fetal Medicine, and the National Society of Genetic Counselors, have collaborated to provide education for clinicians and laboratories regarding the use of expanded genetic carrier screening in reproductive medicine. This statement does not replace current screening guidelines, which are published by individual organizations to direct the practice of their constituents. As organizations develop practice guidelines for expanded carrier screening, further direction is likely. The current statement demonstrates an approach for health care providers and laboratories who wish to or who are currently offering expanded carrier screening to their patients.

  5. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology.

    Science.gov (United States)

    Harper, Joyce C; Geraedts, Joep; Borry, Pascal; Cornel, Martina C; Dondorp, Wybo; Gianaroli, Luca; Harton, Gary; Milachich, Tanya; Kääriäinen, Helena; Liebaers, Inge; Morris, Michael; Sequeiros, Jorge; Sermon, Karen; Shenfield, Françoise; Skirton, Heather; Soini, Sirpa; Spits, Claudia; Veiga, Anna; Vermeesch, Joris Robert; Viville, Stéphane; de Wert, Guido; Macek, Milan

    2013-11-01

    In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and assisted reproductive technology (ART), and published an extended background paper, recommendations and two Editorials. Seven years later, in March 2012, a follow-up interdisciplinary workshop was held, involving representatives of both professional societies, including experts from the European Union Eurogentest2 Coordination Action Project. The main goal of this meeting was to discuss developments at the interface between clinical genetics and ARTs. As more genetic causes of reproductive failure are now recognised and an increasing number of patients undergo testing of their genome before conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and preimplantation genetic diagnosis (PGD) may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from randomised clinical trials to substantiate that the technique is both effective and efficient. Whole-genome sequencing may create greater challenges both in the technological and interpretational domains, and requires further reflection about the ethics of genetic testing in ART and PGD/PGS. Diagnostic laboratories should be reporting their results according to internationally accepted accreditation standards (International Standards Organisation - ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. The legal landscape regarding assisted reproduction is evolving but still remains very heterogeneous and often contradictory. The lack of legal harmonisation and uneven access to infertility treatment and PGD/PGS fosters considerable cross-border reproductive care in Europe and beyond. The aim of this paper is to complement previous publications and provide

  6. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policyEuropean Society of Human Genetics and European Society of Human Reproduction and Embryology

    OpenAIRE

    Harper, Joyce C; Geraedts, Joep; Borry, Pascal; Cornel, Martina C.; Dondorp, Wybo; Gianaroli, Luca; Harton, Gary; Milachich, Tanya; Kääriäinen, Helena; Liebaers, Inge; Morris, Michael; Sequeiros, Jorge; Sermon, Karen; Shenfield, Françoise; Skirton, Heather

    2013-01-01

    In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and assisted reproductive technology (ART), and published an extended background paper, recommendations and two Editorials. Seven years later, in March 2012, a follow-up interdisciplinary workshop was held, involving representatives of both professional societies, including experts from the European Union Eurogent...

  7. Study on Clinical Genetic Trials and Practice in Medical Institutions in Shanghai%上海市医疗机构基因临床研究与应用的现状分析

    Institute of Scientific and Technical Information of China (English)

    范竹萍; 白洁; 周萍; 达庆东; 薛迪; 纪洁

    2013-01-01

    目的 分析上海市基因临床研究与应用中存在或可能存在的伦理问题.方法 对上海市22所医疗机构进行问卷调查,并对相关人员进行关键知情者访谈.结果 被调查的上海市医疗机构中有7所开展基因工作,2011年公立医院基因检测平均服务量比2009年增长1.75倍:31%的公立医院从事基因工作的人员在近1年内参加过伦理培训,体检机构未向员工提供伦理培训:3所开展基因检测的机构未要求签署知情同意书.结论 上海市基因临床研究与应用发展较快但应用不广,应进一步促进基因检测技术的临床应用,完善基因临床应用的伦理规范.%Objective To analyze existing or potential ethical issues in clinical genetic trials and practice. Method A questionnaire survey of 22 medical institutions in Shanghai and key informant interviews were conducted. Results 7 medical institutions had clinical genetic trials or services; the average number of genetic tests provided by public hospitals in 2011 was 1.75 times as high as that in 2009; 31% persons who worked on clinical genetic trials and/or services in the public hospitals had ethics training in the past year and no health examination institutions provided ethics training to their employees; and 3 institutions conducting clinical genetic testing did not require informed consent before providing them. Conclusion Clinical genetic trials and practice have developed rapidly in recent years but are still not widely used in Shanghai. Genetic testing should be promoted to apply in clinics, and their application should be regulated according to ethical norms and criteria.

  8. A Research on Pedigree Investigation in Experimental Teaching of Medical Genetics%家系调查在医学遗传实验教学中的改革初探

    Institute of Scientific and Technical Information of China (English)

    苏立宁; 魏会平; 宋小青; 尹海峰; 董明纲

    2016-01-01

    家系调查是正确进行遗传咨询的首要步骤和依据,在临床实践中发挥着重要作用。从家系调查的优点、制约因素和改革措施等方面阐明家系调查在医学遗传实验教学中的重要性。%Pedigree investigation,the first step and the basis of genetic counseling,plays an important role in clinical practice.This paper discusses the advantages,restricting factors and reform measures and so on to illustrate the importance of pedigree investigation in experimental teaching of medical genetics.

  9. Genetic Discrimination

    Science.gov (United States)

    ... in Genetics Archive Regulation of Genetic Tests Genetic Discrimination Overview Many Americans fear that participating in research ... I) and employment (Title II). Read more Genetic Discrimination and Other Laws Genetic Discrimination and Other Laws ...

  10. Genetic counseling services and development of training programs in Malaysia.

    Science.gov (United States)

    Lee, Juliana Mei-Har; Thong, Meow-Keong

    2013-12-01

    Genetic counseling service is urgently required in developing countries. In Malaysia, the first medical genetic service was introduced in 1994 at one of the main teaching hospitals in Kuala Lumpur. Two decades later, the medical genetic services have improved with the availability of genetic counseling, genetic testing and diagnosis, for both paediatric conditions and adult-onset inherited conditions, at four main centers of medical genetic services in Malaysia. Prenatal diagnosis services and assisted reproductive technologies are available at tertiary centres and private medical facilities. Positive developments include governmental recognition of Clinical Genetics as a subspecialty, increased funding for genetics services, development of medical ethics guidelines, and establishment of support groups. However, the country lacked qualified genetic counselors. Proposals were presented to policy-makers to develop genetic counseling courses. Challenges encountered included limited resources and public awareness, ethical dilemmas such as religious and social issues and inadequate genetic health professionals especially genetic counselors.

  11. [Genetic information and future medicine].

    Science.gov (United States)

    Sakurai, Akihiro

    2012-11-01

    Rapid technological advances in genetic analysis have revealed the genetic background of various diseases. Elucidation of the genes responsible for a disease enables better clinical management of the disease and helps to develop targeted drugs. Also, early diagnosis and management of at-risk family members can be made by identification of a genetic disease in the proband. On the other hand, genetic issues often cause psychological distress to the family. To perform genetic testing appropriately and to protect patients and family members from any harm, guidelines for genetic testing were released from the alliance of Japanese genetics-related academic societies in 2003. As genetic testing is becoming incorporated into clinical practice more broadly, the guideline was revised and released by the Japanese Society of Medical Sciences in 2011. All medical professionals in Japan are expected to follow this guideline.

  12. An investigation of EEG, genetic and cognitive markers of treatment response to antidepressant medication in patients with major depressive disorder: a pilot study.

    Science.gov (United States)

    Spronk, D; Arns, M; Barnett, K J; Cooper, N J; Gordon, E

    2011-01-01

    The aim of this study was to investigate if biomarkers in QEEG, genetic and neuropsychological measures are suitable for the prediction of antidepressant treatment outcome in depression. Twenty-five patients diagnosed with major depressive disorder were assessed twice, pretreatment and at 8-wk follow-up, on a variety of QEEG and neuropsychological tasks. Additionally, cheek swab samples were collected to assess genetic predictors of treatment outcome. The primary outcome measure was the absolute decrease on the HAM-D rating scale. Regression models were built in order to investigate which markers contribute most to the decrease in absolute HAM-D scores. Patients who had a better clinical outcome were characterized by a decrease in the amplitude of the Auditory Oddball N1 at baseline. The 'Met/Met' variant of the COMT gene was the best genetic predictor of treatment outcome. Impaired verbal memory performance was the best cognitive predictor. Raised frontal Theta power was the best EEG predictor of change in HAM-D scores. A tentative integrative model showed that a combination of N1 amplitude at Pz and verbal memory performance accounted for the largest part of the explained variance. These markers may serve as new biomarkers suitable for the prediction of antidepressant treatment outcome.

  13. ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.

    Science.gov (United States)

    Monaghan, Kristin G; Lyon, Elaine; Spector, Elaine B

    2013-07-01

    Molecular genetic testing of the FMR1 gene is commonly performed in clinical laboratories. Mutations in the FMR1 gene are associated with fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency. This document provides updated information regarding FMR1 gene mutations, including prevalence, genotype-phenotype correlation, and mutation nomenclature. Methodological considerations are provided for Southern blot analysis and polymerase chain reaction amplification of the FMR1 gene, including triplet repeat-primed and methylation-specific polymerase chain reaction. In addition to report elements, examples of laboratory reports for various genotypes are also included.

  14. New Genetics

    Science.gov (United States)

    ... Home > Science Education > The New Genetics The New Genetics Living Laboratories Classroom Poster Order a Free Copy ... Piece to a Century-Old Evolutionary Puzzle Computing Genetics Model Organisms RNA Interference The New Genetics is ...

  15. 中国香港地区的医学遗传学发展%Experience of medical genetics in Hong Kong

    Institute of Scientific and Technical Information of China (English)

    Stephen TS LAM

    2006-01-01

    @@ As a geographically integral part of south China, the population mix of Hong Kong is largely influenced by its location. In the past 150 years, its population has increased from a few thousand to 5.7 million. This is the result of episodic influxes of a great mass of people from China, often associated with political upheavals or economic crisis. It explains a population structure of 95% Chinese. This structure is also reflected in the finding of genetic variants in this population, which bears resemblance to neighbouring regions in China. For example, the thalassaemias and lactose intolerance are common.

  16. Impact of NGS in the medical sciences: Genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies.

    Science.gov (United States)

    Lapunzina, Pablo; López, Rocío Ortiz; Rodríguez-Laguna, Lara; García-Miguel, Purificación; Martínez, Augusto Rojas; Martínez-Glez, Víctor

    2014-03-01

    The increased speed and decreasing cost of sequencing, along with an understanding of the clinical relevance of emerging information for patient management, has led to an explosion of potential applications in healthcare. Currently, SNP arrays and Next-Generation Sequencing (NGS) technologies are relatively new techniques used to scan genomes for gains and losses, losses of heterozygosity (LOH), SNPs, and indel variants as well as to perform complete sequencing of a panel of candidate genes, the entire exome (whole exome sequencing) or even the whole genome. As a result, these new high-throughput technologies have facilitated progress in the understanding and diagnosis of genetic syndromes and cancers, two disorders traditionally considered to be separate diseases but that can share causal genetic alterations in a group of developmental disorders associated with congenital malformations and cancer risk. The purpose of this work is to review these syndromes as an example of a group of disorders that has been included in a panel of genes for NGS analysis. We also highlight the relationship between development and cancer and underline the connections between these syndromes.

  17. Impact of NGS in the medical sciences: genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies

    Directory of Open Access Journals (Sweden)

    Pablo Lapunzina

    2014-01-01

    Full Text Available The increased speed and decreasing cost of sequencing, along with an understanding of the clinical relevance of emerging information for patient management, has led to an explosion of potential applications in healthcare. Currently, SNP arrays and Next-Generation Sequencing (NGS technologies are relatively new techniques used to scan genomes for gains and losses, losses of heterozygosity (LOH, SNPs, and indel variants as well as to perform complete sequencing of a panel of candidate genes, the entire exome (whole exome sequencing or even the whole genome. As a result, these new high-throughput technologies have facilitated progress in the understanding and diagnosis of genetic syndromes and cancers, two disorders traditionally considered to be separate diseases but that can share causal genetic alterations in a group of developmental disorders associated with congenital malformations and cancer risk. The purpose of this work is to review these syndromes as an example of a group of disorders that has been included in a panel of genes for NGS analysis. We also highlight the relationship between development and cancer and underline the connections between these syndromes.

  18. Genetic counseling for sex chromosome anomalies (SCAs) in Israel and Germany: assessing medical risks according to the importance of fertility in two cultures.

    Science.gov (United States)

    Hashiloni-Dolev, Yael

    2006-12-01

    In this article, I report findings from a comparative study of Israeli and German genetic counselors. Specifically, it concerns counselors' attitudes and risk assessments relating to prenatal diagnosis of sex chromosome anomalies (SCAs) such as Klinefelter and Turner syndromes. Data collected through in-depth interviews with counselors in both countries (N = 32) are presented, and the types of claims experts deploy in their personal and professional estimation of the risks involved in SCAs are analyzed. The article concludes by suggesting that the counselors rhetoric concerning SCAs, whose major manifestation is the future infertility of the unborn child as well as their estimations of the related risks, should be situated in a broader cultural context, that of local Israeli and German understandings of the importance of fertility, and not in their professional nondirective ethos. Hence, to understand the practice of genetic counselors in two late-modern societies, one must understand the unique relationship between the individual bodies of pregnant women and the body politics of their nations, a relationship mediated by the counselors, who are the bearers of knowledge and expertise in this field.

  19. Impact of NGS in the medical sciences: Genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies

    Science.gov (United States)

    Lapunzina, Pablo; López, Rocío Ortiz; Rodríguez-Laguna, Lara; García-Miguel, Purificación; Martínez, Augusto Rojas; Martínez-Glez, Víctor

    2014-01-01

    The increased speed and decreasing cost of sequencing, along with an understanding of the clinical relevance of emerging information for patient management, has led to an explosion of potential applications in healthcare. Currently, SNP arrays and Next-Generation Sequencing (NGS) technologies are relatively new techniques used to scan genomes for gains and losses, losses of heterozygosity (LOH), SNPs, and indel variants as well as to perform complete sequencing of a panel of candidate genes, the entire exome (whole exome sequencing) or even the whole genome. As a result, these new high-throughput technologies have facilitated progress in the understanding and diagnosis of genetic syndromes and cancers, two disorders traditionally considered to be separate diseases but that can share causal genetic alterations in a group of developmental disorders associated with congenital malformations and cancer risk. The purpose of this work is to review these syndromes as an example of a group of disorders that has been included in a panel of genes for NGS analysis. We also highlight the relationship between development and cancer and underline the connections between these syndromes. PMID:24764758

  20. International Directory of Genetic Services. Second Edition.

    Science.gov (United States)

    Lynch, Henry T., Comp.

    The directory lists medical genetic units in the United States and elsewhere in the world. The director and address of each unit are specified; types of genetic services available are indicated by code. (JD)

  1. Genetic control of immune responsiveness in the chicken

    NARCIS (Netherlands)

    Zijpp, van der A.J.

    1982-01-01

    Disease can be combated by medication, vaccination, hygienic measures, eradication and genetic resistance. Genetic resistance to infectious diseases is advantageous because of its permanent character in contrast with the aforementioned procedures. In the chicken genetic resistance to specific diseas

  2. Enlightenment from United States medical licensing examination(USMLE) upon Chinese medical genetics education%美国医师执照考试对我国医学遗传学教学的启示

    Institute of Scientific and Technical Information of China (English)

    孙平楠; 周小玲; 刘戈飞; 黄天华

    2009-01-01

    介绍了美国医师执照(United States Medical Licensing Examination,USMLE)考试中与医学遗传学教学相关的大纲内容,并比较了我国医学遗传学教学范围与美国USMLE测试考点的异同.分析发现USMLE更加注重临床思维的培训以及临床案例的运用,启示国内医学遗传学教学工作应加强运用以问题为基础的教学模式(Problem-based learning,PBL),提出邀请临床医生参加教材编写,以及在中国执业医师考试中增加医学遗传内容等建议.

  3. 医学遗传学理论教学改革探析%Exploration of medical genetics theoretical teaching reform

    Institute of Scientific and Technical Information of China (English)

    刘鹏; 张贵寅; 高佩琦; 白静; 陈峰; 傅松滨

    2008-01-01

    In order to improve the classroom teaching quality of genetics, we overcome the deficien-cy existed in the traditional teaching, optimize contents of courses, reinforce faculty development, and ad-just teaching and scientific research relationship. The teaching reform has got obvious effeet.%为了加强和提高医学遗传学的教学质量,激发学生的学习兴趣,哈尔滨医科大学医学遗传学教研室在加强教师队伍建设的同时,克服传统教学中存在的不足,优化教学内容,克服教学与科研的矛盾,推动了教学改革,取得了良好的效果.

  4. Perfiles genéticos en muestras de orina en identificación sanitaria militar Genetic profiles in urine samples in military medical identification

    Directory of Open Access Journals (Sweden)

    M.L. Marqués Negredo

    2012-06-01

    Full Text Available Antecedentes: Las muestras de orina que con frecuencia son utilizadas para análisis clínicos, toxicológicos o tets de control de dopaje, pueden verse mezcladas de forma inconsciente o manipuladas intencionalmente. Objetivos: Disponer de una técnica que permita asegurar la identidad de las muestras de orina. Se propone la identificación del donante a partir de la comparación de perfiles genéticos en muestras de orina y sangre. Comparamos dos métodos de extracción de DNA nuclear. Material y métodos: Extracción de DNA a partir de dos métodos, el protocolo Master Diagnostica (VITRO, S.A. y el método automático MagNa Pure® de Roche. Se establece los perfiles genéticos según el AmpFlSTR® Identifiler® PCR Amplification Kit (Applied Biosystems. Resultados: Se obtuvo 100 % de concordancias entre los perfiles de los dos tipos de muestras. Conclusiones: Tanto de forma manual como automática se puede obtener DNA a partir de muestras de orina. Ambos métodos son válidos, si bien con el manual, se obtiene mayor cantidad de DNA. Se puede identificar al donante de una muestra de orina comparando los perfiles genéticos de la orina y de la sangre. La extracción del DNA de la orina y su posterior almacenamiento a -80ºC permite el establecimiento del perfil genético a posteriori sin alteraciones.Antecedents: Urine samples that are often utilized for clinical, toxicological or doping control tests can be mistaken involuntarily or intentionally tampered with. Objective: To make available a technique that ensures the identity of urine samples. We propose the identification of the donor through genetic profiling in blood and urine samples. Two methods of nuclear DNA extraction are compared. Material and methods: DNA is extracted by two methods, the method of Master Diagnostica (VITRO S.A. and the automatic method MagNa Pure® of Roche. The genetic profiles are established utilizing the AmpFlSTR® Identifiler® PCR Amplification Kit (Applied

  5. The Case against Preadoption Genetic Testing.

    Science.gov (United States)

    Freundlich, Madelyn D.

    1998-01-01

    Examines the medical, psychosocial, and ethical considerations concerning presymptomatic genetic testing in evaluating children for adoption. Offers an ethical framework for rejecting such a practice. (JPB)

  6. Medical marijuana

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/patientinstructions/000899.htm Medical marijuana To use the sharing features on this ... have legalized marijuana for medical use. How Does Medical Marijuana Work? Medical marijuana may be: Smoked Vaporized ...

  7. American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities.

    Science.gov (United States)

    Kearney, Hutton M; South, Sarah T; Wolff, Daynna J; Lamb, Allen; Hamosh, Ada; Rao, Kathleen W

    2011-07-01

    Genomic copy number microarrays have significantly increased the diagnostic yield over a karyotype for clinically significant imbalances in individuals with developmental delay, intellectual disability, multiple congenital anomalies, and autism, and they are now accepted as a first tier diagnostic test for these indications. As it is not feasible to validate microarray technology that targets the entire genome in the same manner as an assay that targets a specific gene or syndromic region, a new paradigm of validation and regulation is needed to regulate this important diagnostic technology. We suggest that these microarray platforms be evaluated and manufacturers regulated for the ability to accurately measure copy number gains or losses in DNA (analytical validation) and that the subsequent interpretation of the findings and assignment of clinical significance be determined by medical professionals with appropriate training and certification. To this end, the American College of Medical Genetics, as the professional organization of board-certified clinical laboratory geneticists, herein outlines recommendations for the design and performance expectations for clinical genomic copy number microarrays and associated software intended for use in the postnatal setting for detection of constitutional abnormalities.

  8. The Study of the Ethics Dilemma during the Teaching Procedure of Medical Genetics%医学遗传学教学中的伦理困境与对策研究

    Institute of Scientific and Technical Information of China (English)

    刘红英; 杨利丽; 王刚

    2014-01-01

    为探讨医学遗传学教学中伦理学问题的正确授课方法,我们采用随机抽取﹑面对面交流﹑匿名调查问卷等方法与学生沟通,获得了学生对医学遗传学教学中伦理学问题看法的最真实的资料。总结正确方法,将伦理学问题贯穿到医学遗传学教学过程中,真正达到“教书育人”的目的。%To investigate the correct teaching method of the ethics problem in Medical Gentics. We get the real viewpoint from students by random selection, face to face talking and anonymous questionnaire. And we summarize the data and put the ethics problem into the teaching procedure of Medical Genetics. To achieve the aim of “impart knowledge and educate people”.

  9. Feline genetics: clinical applications and genetic testing.

    Science.gov (United States)

    Lyons, Leslie A

    2010-11-01

    DNA testing for domestic cat diseases and appearance traits is a rapidly growing asset for veterinary medicine. Approximately 33 genes contain 50 mutations that cause feline health problems or alterations in the cat's appearance. A variety of commercial laboratories can now perform cat genetic diagnostics, allowing both the veterinary clinician and the private owner to obtain DNA test results. DNA is easily obtained from a cat via a buccal swab with a standard cotton bud or cytological brush, allowing DNA samples to be easily sent to any laboratory in the world. The DNA test results identify carriers of the traits, predict the incidence of traits from breeding programs, and influence medical prognoses and treatments. An overall goal of identifying these genetic mutations is the correction of the defect via gene therapies and designer drug therapies. Thus, genetic testing is an effective preventative medicine and a potential ultimate cure. However, genetic diagnostic tests may still be novel for many veterinary practitioners and their application in the clinical setting needs to have the same scrutiny as any other diagnostic procedure. This article will review the genetic tests for the domestic cat, potential sources of error for genetic testing, and the pros and cons of DNA results in veterinary medicine. Highlighted are genetic tests specific to the individual cat, which are a part of the cat's internal genome.

  10. Genetic algorithms

    Science.gov (United States)

    Wang, Lui; Bayer, Steven E.

    1991-01-01

    Genetic algorithms are mathematical, highly parallel, adaptive search procedures (i.e., problem solving methods) based loosely on the processes of natural genetics and Darwinian survival of the fittest. Basic genetic algorithms concepts are introduced, genetic algorithm applications are introduced, and results are presented from a project to develop a software tool that will enable the widespread use of genetic algorithm technology.

  11. Genetic Mapping

    Science.gov (United States)

    ... Fact Sheets Fact Sheets En Español: Mapeo Genético Genetic Mapping What is genetic mapping? How do researchers create ... genetic map? What are genetic markers? What is genetic mapping? Among the main goals of the Human Genome ...

  12. Genetic Counseling

    Science.gov (United States)

    Genetic counseling provides information and support to people who have, or may be at risk for, genetic disorders. A ... meets with you to discuss genetic risks. The counseling may be for yourself or a family member. ...

  13. Genetic toxicology: web resources.

    Science.gov (United States)

    Young, Robert R

    2002-04-25

    Genetic toxicology is the scientific discipline dealing with the effects of chemical, physical and biological agents on the heredity of living organisms. The Internet offers a wide range of online digital resources for the field of Genetic Toxicology. The history of genetic toxicology and electronic data collections are reviewed. Web-based resources at US National Library of Medicine (NLM), including MEDLINE, PUBMED, Gateway, Entrez, and TOXNET, are discussed. Search strategies and Medical Subject Headings (MeSH) are reviewed in the context of genetic toxicology. The TOXNET group of databases are discussed with emphasis on those databases with genetic toxicology content including GENE-TOX, TOXLINE, Hazardous Substances Data Bank, Integrated Risk Information System, and Chemical Carcinogenesis Research Information System. Location of chemical information including chemical structure and linkage to health and regulatory information using CHEMIDPLUS at NLM and other databases is reviewed. Various government agencies have active genetic toxicology research programs or use genetic toxicology data to assist fulfilling the agency's mission. Online resources at the US Food and Drug Administration (FDA), the US Environmental Protection Agency (EPA), the National Institutes of Environmental Health Sciences, and the National Toxicology Program (NTP) are outlined. Much of the genetic toxicology for pharmaceuticals, industrial chemicals and pesticides that is performed in the world is regulatory-driven. Regulatory web resources are presented for the laws mandating testing, guidelines on study design, Good Laboratory Practice (GLP) regulations, and requirements for electronic data collection and reporting. The Internet provides a range of other supporting resources to the field of genetic toxicology. The web links for key professional societies and journals in genetic toxicology are listed. Distance education, educational media resources, and job placement services are also

  14. Prevalence and genetic mechanisms of antimicrobial resistance in Staphylococcus species: A multicentre report of the indian council of medical research antimicrobial resistance surveillance network.

    Science.gov (United States)

    Rajkumar, Sunanda; Sistla, Sujatha; Manoharan, Meerabai; Sugumar, Madhan; Nagasundaram, Niveditha; Parija, Subhash Chandra; Ray, Pallab; Bakthavatchalam, Yamuna Devi; Veeraraghavan, Balaji; Kapil, Arti; Walia, Kamini; Ohri, V C

    2017-01-01

    Routine surveillance of antimicrobial resistance (AMR) is an essential component of measures aimed to tackle the growing threat of resistant microbes in public health. This study presents a 1-year multicentre report on AMR in Staphylococcus species as part of Indian Council of Medical Research-AMR surveillance network. Staphylococcus species was routinely collected in the nodal and regional centres of the network and antimicrobial susceptibility testing was performed against a panel of antimicrobials. Minimum inhibitory concentration (MIC) values of vancomycin (VAN), daptomycin, tigecycline and linezolid (LNZ) against selected methicillin-resistant Staphylococcus aureus(MRSA) isolates were determined by E-test and MIC creep, if any, was determined. Resistant genotypes were determined by polymerase chain reaction for those isolates showing phenotypic resistance. The prevalence of MRSA was found to be range from moderate (21%) to high (45%) among the centres with an overall prevalence of 37.3%. High prevalence of resistance was observed with commonly used antimicrobials such as ciprofloxacin and erythromycin in all the centres. Resistance to LNZ was not encountered except for a single case. Full-blown resistance to VAN in S. aureus was not observed; however, a few VAN-intermediate S. aureus isolates were documented. The most common species of coagulase negative staphylococci (CoNS) identified was Staphylococcus haemolyticus and Staphylococcus epidermidis. Resistance among CoNS was relatively higher than S. aureus. Most phenotypically resistant organisms possessed the corresponding resistance genes. There were localised differences in the prevalence of resistance between the centres. The efficacy of the anti-MRSA antimicrobials was very high; however, almost all these antimicrobials showed evidence of creeping MIC.

  15. Identical twins in forensic genetics

    DEFF Research Database (Denmark)

    Tvedebrink, Torben; Morling, Niels

    2015-01-01

    The increase in the number of forensic genetic loci used for identification purposes results in infinitesimal random match probabilities. These probabilities are computed under assumptions made for rather simple population genetic models. Often, the forensic expert reports likelihood ratios, where...... published results accounting for close familial relationships. However, we revisit the discussion to increase the awareness among forensic genetic practitioners and include new information on medical and societal factors to assess the risk of not considering a monozygotic twin as the true perpetrator...

  16. Closing the loop: an interactive action-research conference format for delivering updated medical information while eliciting Latina patient/family experiences and psychosocial needs post-genetic cancer risk assessment.

    Science.gov (United States)

    Macdonald, Deborah J; Deri, Julia; Ricker, Charité; Perez, Martin A; Ogaz, Raquel; Feldman, Nancy; Viveros, Lori A; Paz, Benjamin; Weitzel, Jeffrey N; Blazer, Kathleen R

    2012-09-01

    A patient/family-centered conference was conducted at an underserved community hospital to address Latinas' post-genetic cancer risk assessment (GCRA) medical information and psychosocial support needs, and determine the utility of the action research format. Latinas seen for GCRA were recruited to a half-day conference conducted in Spanish. Content was partly determined from follow-up survey feedback. Written surveys, interactive discussions, and Audience Response System (ARS) queries facilitated the participant-healthcare professional action research process. Analyses included descriptive statistics and thematic analysis. The 71 attendees (41 patients and 27 relatives/friends) were primarily non-US born Spanish-speaking females, mean age 43 years. Among patients, 73 % had a breast cancer history; 85 % had BRCA testing (49 % BRCA+). Nearly all (96 %) attendees completed the conference surveys and ARS queries; ≥48 % participated in interactive discussions. Most (95 %) agreed that the format met their personal interests and expectations and provided useful information and resources. Gaps/challenges identified in the GCRA process included pre-consult anxiety, uncertainty about reason for referral and expected outcomes, and psychosocial needs post-GCRA, such as absorbing and disseminating risk information to relatives and concurrently coping with a recent cancer diagnosis. The combined action research and educational conference format was innovative and effective for responding to continued patient information needs and addressing an important data gap about support needs of Latina patients and family members following genetic cancer risk assessment. Findings informed GCRA process improvements and provide a basis for theory-driven cancer control research.

  17. Abortion - medical

    Science.gov (United States)

    Therapeutic medical abortion; Elective medical abortion; Induced abortion; Nonsurgical abortion ... A medical, or nonsurgical, abortion can be done within 7 weeks from the first day of the woman's last ...

  18. Oral Medication

    Science.gov (United States)

    ... Size: A A A Listen En Español Oral Medication The first treatment for type 2 diabetes blood ... new — even over-the-counter items. Explore: Oral Medication How Much Do Oral Medications Cost? Save money ...

  19. A concepção de família e religiosidade presente nos discursos produzidos por profissionais médicos acerca de crianças com doenças genéticas Family and religious traditions present in medical discourses by medical professionals about children with genetic diseases

    Directory of Open Access Journals (Sweden)

    Antilia Januária Martins

    2012-02-01

    Full Text Available O estudo explora a influência de tradições culturais arraigadas na construção do discurso que médicos do Instituto Fernandes Figueira/Fundação Oswaldo Cruz produzem acerca das crianças com doenças genéticas associadas a malformações congênitas e ao retardo mental, assim como, as reflexões provocadas pelo convívio profissional com tais crianças. Os dados foram coletados através de entrevistas orais do tipo narrativa conversada e do material analisado semioticamente. Os resultados apontaram para quatro tradições culturais muito presentes no discurso médico: a norma, a razão, a família e a religiosidade judaico-cristã. Este artigo, contudo, centra-se nas duas últimas, enfatizando como a concepção da família, principalmente a mitificação da mãe, pode 'tornar invisível' a criança com uma doença genética, como também contribui para que a condição de mulher da mãe fique subestimada diante de sua maternidade. Tais noções imbricam-se com aquelas trazidas pelas tradições religiosas e influenciam as percepções médicas a respeito do paciente e de sua família.This study explores the influences of cultural traditions rooted in the tone of medical discourse at the Instituto Fernandes Figueira/ Fundação Oswaldo Cruz by physicians regarding children with genetic diseases involving malformations and mental retardation, as well as reflections upon the professional care for these children. Data were collected using oral interviews (in the form of conversational narratives and were submitted to semiotic analysis. The results pointed to four main cultural traditions present in medical discourse: the norm, the reason, the family and the Jewish-Christian religiosity. This article, however, focuses on the latter two, emphasizing how the notion of the family, mainly the mythification of the mother, can make the child with a genetic disease 'invisible,' in addition to contributing towards womanhood being underestimated when

  20. Missing persons genetic identification

    Directory of Open Access Journals (Sweden)

    Matija Bajželj

    2017-09-01

    Full Text Available This article presents identification of missing persons from badly preserved post-mortem remains using molecular genetics methods. Extremely polymorphic and individually specific genetic markers that enable the identification of missing persons are microsatellites on autosomal chromosomes, microsatellites on Y chromosome and control region of mitochondrial DNA. For genetic profile comparison, biological material from post-mortem remains and reference samples have to be collected. If post-mortem remains are found shortly after the presumed death of the missing person, their personal items are used for comparison. If these are not available, (the missing person‘s relatives could be used as reference samples or achieved tissues stored in medical institutions if biopsy for the needs of medical diagnostics was performed earlier during their life. When reference samples are not available, genetic identification is not possible. The type of biological material sampled from the deceased depends on the condition of human remains. Blood, soft tissues, nails, teeth or bones are most commonly used for genetic identification, and the time required for DNA extraction depends on the type of biological material. The most demanding and time consuming is extraction of DNA from teeth and bones, therefore we use it in cases when only skeleton is available or we cannot get a sufficient amount of DNA for genetic identification from other tissues. If the genetic profile of post-mortem reamains and a reference sample of the missing person match, the strength of genetic evidence has to be statistically evaluated and the probability of identification reported.

  1. Genetic professionals' views on genetic counsellors: a French survey.

    Science.gov (United States)

    Cordier, Christophe; Taris, Nicolas; Moldovan, Ramona; Sobol, Hagay; Voelckel, Marie-Antoinette

    2016-01-01

    The genetic counselling profession was established in France in 2004. Eight years later, 122 genetic counsellors have graduated from the unique educational French program which awards the Professional Master Degree of Human Pathology, entitled "Master of Genetic Counselling and Predictive Medicine". As part of a global evaluation of this new profession by health genetic professionals, we undertook a national survey investigating various aspects such as employment, work responsibilities and integration. To our knowledge, this is the first study to investigate the views of genetic professionals on the genetic counsellors' role. Of 422 French professionals invited to take part in this study, 126 participated. The survey underlines that this profession is significantly recognized by physicians practicing within genetics departments. French genetic counsellors are allowed to manage consultations independently, without the necessary presence of a qualified medical geneticist but under his or her responsibility. Genetic counsellors participate in a wide range of consultations. They provide both information for relevant and for genetic testing and sometimes disclose the genetic test result to patient. Eventually, the role of genetic counsellors appears to be directly dependent from the relationship of trust between the two health professions.

  2. Basic concepts of medical genetics. Formal genetics, part 4

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2014-09-17

    Sep 17, 2014 ... of inheritance that characterize the transmission of single gene disorders since ... of the strict functional balance between the three major compo- nents of the ..... central roles mediated by the mitochondria in ATP and energy.

  3. Basic concepts of medical genetics: Formal genetics, Part 2

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2014-01-21

    Jan 21, 2014 ... through e.g. engineering of monoclonal antibodies against rel- evant oncoproteins ... utive processes of differentiation, specialization, growth and development. ... characterize development and differentiation. The role played.

  4. Genetic modification and genetic determinism.

    Science.gov (United States)

    Resnik, David B; Vorhaus, Daniel B

    2006-06-26

    In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

  5. Medical tourism.

    Science.gov (United States)

    Leggat, Peter

    2015-01-01

    Medical tourism is a burgeoning industry in our region. It involves patients travelling outside of their home country for medical treatment. This article provides an outline of the current research around medical tourism, especially its impact on Australians. Patients are increasingly seeking a variety of medical treatments abroad, particularly those involving cosmetic surgery and dental treatment, often in countries in South-East Asia. Adverse events may occur during medical treatment abroad, which raises medico-legal and insurance issues, as well as concerns regarding follow-up of patients. General practitioners need to be prepared to offer advice, including travel health advice, to patients seeking medical treatment abroad.

  6. [Medical applications of systems biology].

    Science.gov (United States)

    Demongeot, Jacques

    2009-01-01

    We illustrate in this review some applications of systems biology in the medical and biological areas. After a brief summary of time scales experienced by medical -observations and of the general scheme of dynamic systems, we describe how some techniques underlying the complex systems theory can be applied to model medical issues in immunology, medical genetics, developmental morphogenesis, biochemistry, epidemiology, telemedecine and multiple platforms of expertise. In concluding, we will discuss the issue of "clinomics" coupling clinical and -omics data in a unique patient-specific file.

  7. Cyclopia: from Greek antiquity to medical genetics.

    Science.gov (United States)

    Kalantzis, George C; Tsiamis, Costas B; Poulakou-Rebelakou, Effie L

    2013-01-01

    Cyclops are among the best-known monsters of Greek mythology, also mentioned in art and literature. According to the most recent scientific knowledge, the malformations caused by defective development of the anterior brain and midline mesodermal structures include cyclopia (synophthalmos), ethmocephaly, cebocephaly and arrhinencephaly. These severe forebrain lesions often are accompanied by severe systemic malformations, and affected infants rarely survive. Neither true cyclopia nor synophthalmos are compatible with life because an anomalous development of the brain is involved. Thus, it is difficult to assume that ancient Greeks drew their inspiration from an adult patient suffering from cyclopia. Cyclops appear for the first time in literature in Homer's Odyssey (8th-7th century BC) and one of them, Polyphemus, is blinded by the hero of the epic poem. The description of the creature is identical with patients suffering from cyclopia; eyes are fused and above the median eye there is a proboscis, which is the result of an abnormal development of the surface ectodermal structures covering the brain. The next literature appearance of Cyclops is at the end of 7th century BC in "Theogonia", written by Hesiodus. Another interesting description is made by Euripides in his satyr play entitled 'Cyclops' (5th century BC). In conclusion, though it is not certain whether Homer's description of Cyclops was based on his personal experience or the narration of his ancestors, there is no doubt that the ophthalmological disease, cyclopia, was named after this mythical creature.

  8. Egyptian Journal of Medical Human Genetics

    African Journals Online (AJOL)

    Journal Homepage Image ... A prospective longitudinal study to estimate the prevalence of obesity in Egyptian children with nocturnal enuresis and the association between body mass index and response to therapy · EMAIL FREE FULL TEXT ...

  9. Imaging Genetics

    Science.gov (United States)

    Munoz, Karen E.; Hyde, Luke W.; Hariri, Ahmad R.

    2009-01-01

    Imaging genetics is an experimental strategy that integrates molecular genetics and neuroimaging technology to examine biological mechanisms that mediate differences in behavior and the risks for psychiatric disorder. The basic principles in imaging genetics and the development of the field are discussed.

  10. Genetic principles.

    Science.gov (United States)

    Abuelo, D

    1987-01-01

    The author discusses the basic principles of genetics, including the classification of genetic disorders and a consideration of the rules and mechanisms of inheritance. The most common pitfalls in clinical genetic diagnosis are described, with emphasis on the problem of the negative or misleading family history.

  11. Imaging Genetics

    Science.gov (United States)

    Munoz, Karen E.; Hyde, Luke W.; Hariri, Ahmad R.

    2009-01-01

    Imaging genetics is an experimental strategy that integrates molecular genetics and neuroimaging technology to examine biological mechanisms that mediate differences in behavior and the risks for psychiatric disorder. The basic principles in imaging genetics and the development of the field are discussed.

  12. Modelo hipercubo integrado a um algoritmo genético para análise de sistemas médicos emergenciais em rodovias The hypercube queuing model integrated to a genetic algorithm to analyze emergency medical systems on highways

    Directory of Open Access Journals (Sweden)

    Ana Paula Iannoni

    2006-04-01

    Full Text Available O modelo hipercubo, conhecido na literatura de problemas de localização de sistemas servidor para cliente, é um modelo baseado em teoria de filas espacialmente distribuídas e aproximações Markovianas. O modelo pode ser modificado para analisar os sistemas de atendimentos emergenciais (SAEs em rodovias, considerando as particularidades da política de despacho destes sistemas. Neste estudo, combinou-se o modelo hipercubo com um algoritmo genético para otimizar a configuração e operação de SAEs em rodovias. A abordagem é efetiva para apoiar decisões relacionadas ao planejamento e operação destes sistemas, por exemplo, em determinar o tamanho ideal para as áreas de cobertura de cada ambulância, de forma a minimizar o tempo médio de resposta aos usuários e o desbalanceamento das cargas de trabalho das ambulâncias. Os resultados computacionais desta abordagem foram analisados utilizando dados reais do sistema Anjos do Asfalto (rodovia Presidente Dutra.The hypercube model, well-known in the literature on problems of server-to-customer localization systems, is based on the spatially distributed queuing theory and Markovian analysis approximations. The model can be modified to analyze Emergency Medical Systems (EMSs on highways, considering the particularities of these systems' dispatching policies. In this study, we combine the hypercube model with a genetic algorithm to optimize the configuration and operation of EMSs on highways. This approach is effective to support planning and operation decisions, such as determining the ideal size of the area each ambulance should cover to minimize not only the average time of response to the user but also ambulance workload imbalances, as well as generating a Pareto efficient boundary between these measures. The computational results of this approach were analyzed using real data Anjos do Asfalto EMS (which covers the Presidente Dutra highway.

  13. Medical Identity

    DEFF Research Database (Denmark)

    Musaeus, Peter

    2015-01-01

    Purpose: To examine philosophical stances underpinning medical identity and assess the conceptual relationship between physician, medical practice and culture. Argument: Medical identity is about the ideals and moral positions that physicians take when justifying themselves. Medical identity...... hedonistic versus sentimentalist approaches to medical identity. The sociocultural philosophical analysis of medical identity can shed light on what it means conceptually for a physician to harbor beliefs associated with him/her being taken to be an autonomous professional. It is important because it touches...... on the meaning of being a compassionate, good and skilled physician, making its relevance to person-centered medicine self-evident. Conclusion: Medical identity should be analyzed with reference to literature, philosophy and medical practice in order for the physician to exercise a reflective position...

  14. Medical Management

    Science.gov (United States)

    ... email share facebook twitter google plus linkedin Medical Management Although there’s no cure for CMT, there are ... individualized physical therapy program. For more on medical management of CMT, see Surgery Sometimes, Bracing Often, Caution ...

  15. Genetic modification and genetic determinism

    OpenAIRE

    Vorhaus Daniel B; Resnik David B

    2006-01-01

    Abstract In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound....

  16. Medication safety.

    Science.gov (United States)

    Keohane, Carol A; Bates, David W

    2008-03-01

    Patient safety is a state of mind, not a technology. The technologies used in the medical setting represent tools that must be properly designed, used well, and assessed on an on-going basis. Moreover, in all settings, building a culture of safety is pivotal for improving safety, and many nontechnologic approaches, such as medication reconciliation and teaching patients about their medications, are also essential. This article addresses the topic of medication safety and examines specific strategies being used to decrease the incidence of medication errors across various clinical settings.

  17. Currently Clinical Views on Genetics of Wilson′s Disease

    Directory of Open Access Journals (Sweden)

    Chen Chen

    2015-01-01

    Conclusions: Clinical genetics studies are necessary to understand the mechanism underlying WD at the molecular level from the genotype to the phenotype. Clinical genetics research benefits newly emerging medical treatments including stem cell transplantation and gene therapy for WD patients.

  18. Genetic barcodes

    Energy Technology Data Exchange (ETDEWEB)

    Weier, Heinz -Ulrich G

    2015-08-04

    Herein are described multicolor FISH probe sets termed "genetic barcodes" targeting several cancer or disease-related loci to assess gene rearrangements and copy number changes in tumor cells. Two, three or more different fluorophores are used to detect the genetic barcode sections thus permitting unique labeling and multilocus analysis in individual cell nuclei. Gene specific barcodes can be generated and combined to provide both numerical and structural genetic information for these and other pertinent disease associated genes.

  19. An overview of genetic counseling in Cuba.

    Science.gov (United States)

    Cruz, Araceli Lantigua

    2013-12-01

    This brief report provides an overview of the history and current status of genetic services in Cuba. In 1971, the University of Medical Sciences of Havana began to train doctors in medical genetics according to the medicine development plan in Cuba. With the aim of introducing genetic services to the population, two main issues were identified: the impact of neural tube defects as a cause of infantile mortality, and a founder effect resulting in a high frequency of sickle cell anemia, which increased the mortality rate and impacted the quality of peoples' lives. The impact of consanguinity is variable; it depends on the isolation of the population, with rates of 1 to 11% in different regions for first and second cousin marriages. From 1981, the services of medical genetics began to expand to the entire country, according to a government directive, and the need to design a program for the specialty became evident. From 1995 to 2000, two Masters-level programs were designed by professors of the Department of Medical Genetics, University of Medical Sciences of Havana, and authorized by the Ministry of Higher Education. One program in medical genetics was designed for physicians with other specialties, and the second program was designed to train professionals to become genetic counselors. The majority of graduates from the latter program are working at the primary level of healthcare.

  20. [Insights about uncertainty in genetic counseling].

    Science.gov (United States)

    Huicochea-Montiel, Juan Carlos; Cárdenas-Conejo, Alan; Cervantes-Díaz, María Teresa; Araujo-Solís, María Antonieta de Jesús

    2015-01-01

    Genetic counseling is an information process to help people in the understanding and adaptation to the medical, psychological and family implications of the genetic contribution in diseases. This counseling encompasses all sorts of patients. This represents a challenge in the daily work of the medical geneticist, because giving information in a meaningful way to the patient and his family implies an emotional and psychological burden. Generally we can see two outcomes in the medical practice of genetics, which converge after a diagnosis process: 1) we can face the inability to reach a diagnostic conclusion or 2) we can establish or confirm a diagnosis with certainty, which is the main piece in the genetic counseling. However, in all the situations the uncertainty is a fact, since in the case of those individuals who come in for genetic counseling before symptoms appear or those in prenatal cases, the absence of clinical manifestations and the impossibility to change the course of events lead to the appearance of helplessness and despair. In those cases without diagnostic conclusion, this situation represents a reason for uncertainty, and even in those patients with a diagnosis, certain factors can modify the circumstances in which genetic counseling occurs, such as unpredictability or lack of control. Therefore, it is important to consider the management of uncertainty as an inherent part throughout the process of care in medical genetics. The teaching of medical genetics should also consider the inclusion of topics related to this circumstance.

  1. Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees' perception, the medical impact by the pathogenic or uninformative BRCA1/2-result

    NARCIS (Netherlands)

    Vos, Joel; Gomez-Garcia, Encarna; Oosterwijk, Jan C.; Menko, Fred H.; Stoel, Reinoud D.; van Asperen, Christi J.; Stiggelbout, Anne M.; Tibben, Aad; JANSEN, AM

    2012-01-01

    Background: It has been hypothesized that the Outcomes of DNA testing (O) are better predicted and/or mediated by the counselees' Perception P) than by the actually communicated genetic Information (I). In this study, we aimed at quantifying the effect that perception has in genetic counseling for h

  2. Genetic modification and genetic determinism

    Directory of Open Access Journals (Sweden)

    Vorhaus Daniel B

    2006-06-01

    Full Text Available Abstract In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

  3. Current medical diagnosis and treatment 1986

    Energy Technology Data Exchange (ETDEWEB)

    Krupp, M.A.; Chatton, M.J.; Tierney, L.M.

    1986-01-01

    This book contains 33 chapters. Some of the titles are: Nervous system; Psychiatric disorders; Medical genetics; Endocrine disorders; Introduction to infectious diseases; Disorders due to physical agents; and Anti-infective chemotherapeutic and antibiotic agents.

  4. Understanding IBD Medications and Side Effects

    Science.gov (United States)

    ... human genome (study of genes associated with IBD), microbiome (study of bacterial species), and genetic research. Treatment ... These goals may be achieved either with a combination of over-the-counter and prescription medications, or ...

  5. Medical Scientists

    Science.gov (United States)

    ... Projected Employment, 2024 Change, 2014-24 Employment by Industry Percent Numeric SOURCE: U.S. Bureau of Labor Statistics, Employment Projections program Medical scientists, except epidemiologists 19- ...

  6. Examining the Relationship Between Genetic Counselors’ Attitudes Toward Deaf People and the Genetic Counseling Session

    OpenAIRE

    Enns, Emily E.; Boudreault, Patrick; Palmer, Christina G.

    2009-01-01

    Given the medical and cultural perspectives on deafness it is important to determine if genetic counselors’ attitudes toward deaf people can affect counseling sessions for deafness genes. One hundred fifty-eight genetic counselors recruited through the National Society of Genetic Counselors Listserv completed an online survey assessing attitudes toward deaf people and scenario-specific comfort levels discussing and offering genetic testing for deafness. Respondents with deaf/Deaf friends or w...

  7. Genetic Engineering

    Science.gov (United States)

    Phillips, John

    1973-01-01

    Presents a review of genetic engineering, in which the genotypes of plants and animals (including human genotypes) may be manipulated for the benefit of the human species. Discusses associated problems and solutions and provides an extensive bibliography of literature relating to genetic engineering. (JR)

  8. Genetic Counseling

    Science.gov (United States)

    ... for certain types of genetic conditions (such as Down syndrome) in the baby if mother-to-be is 35 years of age or more, or is concerned at any age about her chances of having a child with a genetic condition To learn about the ...

  9. Animal models for human genetic diseases

    African Journals Online (AJOL)

    Sharif Sons

    organisms are extensively used in applied research in agriculture, industry, and also in medicine, where they are ... in genetic disorder that is critical for embryonic .... by practical limitations and ethical concerns. ..... American journal of medical.

  10. Revertant mosaicism in human genetic disorders

    NARCIS (Netherlands)

    Jonkman, MF

    1999-01-01

    Somatic reversion of inherited mutations is known for many years in plant breeding, however it was recognized only recently in humans. The concept of revertant mosaicism is important in medical genetics. (C) 1999 Wiley-Liss, Inc.

  11. [Euthanasia: medications and medical procedures].

    Science.gov (United States)

    Lossignol, D

    2008-09-01

    The Belgian law relative to euthanasia has been published in 2002. A physician is allowed to help a patient with intractable suffering (physical or psychological). Legal conditions are clear. However, nothing is said about medical procedures or medications to be used. The present paper will present specific clinical situations at the end of life, practical procedures and medications. A special focus is made on psychological impact of euthanasia.

  12. Genetics and implications in perioperative analgesia.

    Science.gov (United States)

    Trescot, Andrea M

    2014-06-01

    The wide range of patient responses to surgical pain, opioids, and anesthetic agents has puzzled anesthesiologists for many years. Much of the variation has been attributed to differences in patient size, technique, or prior drug use. However, recent genetic testing has revealed exciting clues into the basis for these variances, allowing us to start to predict which patients may have difficulties and start to select medications more rationally. In this manuscript, we discuss genetics and pain perception, genetic predisposition to pain, drug metabolism interactions, ethnogenetics, opioid metabolism, opioid receptors, genetic-related peri-anesthetic toxicity, as well as a clinical approach and a discussion regarding the future of genetic testing and anesthesia.

  13. Applying genetics in inflammatory disease drug discovery

    DEFF Research Database (Denmark)

    Folkersen, Lasse; Biswas, Shameek; Frederiksen, Klaus Stensgaard

    2015-01-01

    Recent groundbreaking work in genetics has identified thousands of small-effect genetic variants throughout the genome that are associated with almost all major diseases. These genome-wide association studies (GWAS) are often proposed as a source of future medical breakthroughs. However......, with several notable exceptions, the journey from a small-effect genetic variant to a functional drug has proven arduous, and few examples of actual contributions to drug discovery exist. Here, we discuss novel approaches of overcoming this hurdle by using instead public genetics resources as a pragmatic guide...... alongside existing drug discovery methods. Our aim is to evaluate human genetic confidence as a rationale for drug target selection....

  14. Acute - Glossary Entry - Genetics Home Reference [Genetics Home Reference (Glossary)

    Lifescience Database Archive (English)

    Full Text Available | F | G | H | I | J | K | L | M | N | O | P | Q-R | S | T | U | V | W | X | Y-Z Acute Definition(s) Having ...ding Medical Terminology . Published : October 27, 2014 Acute - Glossary Entry - Genetics Home Reference ...

  15. Medical Abortion.

    Science.gov (United States)

    Costescu, Dustin; Guilbert, Edith; Bernardin, Jeanne; Black, Amanda; Dunn, Sheila; Fitzsimmons, Brian; Norman, Wendy V; Pymar, Helen; Soon, Judith; Trouton, Konia; Wagner, Marie-Soleil; Wiebe, Ellen; Gold, Karen; Murray, Marie-Ève; Winikoff, Beverly; Reeves, Matthew

    2016-04-01

    This guideline reviews the evidence relating to the provision of first-trimester medical induced abortion, including patient eligibility, counselling, and consent; evidence-based regimens; and special considerations for clinicians providing medical abortion care. Gynaecologists, family physicians, registered nurses, midwives, residents, and other healthcare providers who currently or intend to provide pregnancy options counselling, medical abortion care, or family planning services. Women with an unintended first trimester pregnancy. Published literature was retrieved through searches of PubMed, MEDLINE, and Cochrane Library between July 2015 and November 2015 using appropriately controlled vocabulary (MeSH search terms: Induced Abortion, Medical Abortion, Mifepristone, Misoprostol, Methotrexate). Results were restricted to systematic reviews, randomized controlled trials, clinical trials, and observational studies published from June 1986 to November 2015 in English. Additionally, existing guidelines from other countries were consulted for review. A grey literature search was not required. The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force for Preventive Medicine rating scale (Table 1). Medical abortion is safe and effective. Complications from medical abortion are rare. Access and costs will be dependent on provincial and territorial funding for combination mifepristone/misoprostol and provider availability. Introduction Pre-procedure care Medical abortion regimens Providing medical abortion Post-abortion care Introduction Pre-procedure care Medical abortion regimens Providing medical abortion Post-abortion care. Copyright © 2016 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved.

  16. 130 FEMINISM AND HUMAN GENETIC ENGINEERING: A ...

    African Journals Online (AJOL)

    Ike Odimegwu

    Abstract. Human genetic in the area of Bio-ethics is a new, rapidly advancing. Science. ... Human genetic engineering, a recent one in medical science and practice, is one ..... The Church on Cloning and Stem Cell Research. The teaching of ...

  17. Feeding and Swallowing Dysfunction in Genetic Syndromes

    Science.gov (United States)

    Cooper-Brown, Linda; Copeland, Sara; Dailey, Scott; Downey, Debora; Petersen, Mario Cesar; Stimson, Cheryl; Van Dyke, Don C.

    2008-01-01

    Children with genetic syndromes frequently have feeding problems and swallowing dysfunction as a result of the complex interactions between anatomical, medical, physiological, and behavioral factors. Feeding problems associated with genetic disorders may also cause feeding to be unpleasant, negative, or even painful because of choking, coughing,…

  18. Medical Malpractice

    DEFF Research Database (Denmark)

    Grembi, Veronica

    2014-01-01

    MM first came to the attention of policy makers primarily in the USA where, from the 1970s, healthcare providers denounced problems in getting insurance for medical liability, pointing out to a crisis in the MM insurance market (Sage WM (2003) Understanding the first malpractice crisis of the 21th...... in the last decades also among European countries (Hospitals of the European Union (HOPE) (2004) Insurance and malpractice, final report. Brussels, www.hope.be; OECD (2006) Medical malpractice, insurance and coverage options, policy issues in insurance n.11; EC (European Commission, D.G. Sanco) (2006) Special...... eurobarometer medical errors)...

  19. Genetic Breakthrough

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    A new calf breeding technique shows promise for treating malignant tumors Chinese scientists have successfully bred a genetically altered cow capable of producing cancer-curing proteins for human beings.

  20. [Crisis in medical ethics].

    Science.gov (United States)

    Stellamor, K

    1996-01-01

    There is a disproportion between diagnostic and therapeutic medical achievements and the doctor/patient relationship. Are we allowed to do everything we are able to do in medicine? People are concerned and worried (genetic technology, invasive medicine, embryos in test tubes etc.). The crisis of ethics in medicine is evident. The analysis of the situation shows one of the causes in the shift of the paradigma-modern times to postmodern following scientific positivism-but also a loss of ethics in medicine due to an extreme secularism and to modern philosophical trends (Hans Jonas and the responsibility for the future and on the other hand modern utilitarism).

  1. Mitochondrial genetics

    OpenAIRE

    Chinnery, Patrick Francis; Hudson, Gavin

    2013-01-01

    Introduction In the last 10 years the field of mitochondrial genetics has widened, shifting the focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) variation in a growing spectrum of human disease. The aim of this review is to guide the reader through some key concepts regarding mitochondria before introducing both classic and emerging mitochondrial disorders. Sources of data In this article, a review of the current mitochondrial genetics literature was con...

  2. [Medical politics. Graffiti].

    Science.gov (United States)

    Fugelli, P

    1991-03-20

    If doctors want to play a role in future health promotion, they have to leave their citadel, and come closer to life and society. Modern preventive medicine cannot be dissociated from basic political, cultural and religious values and processes. Genetic counseling and engineering, influencing lifestyle, community intervention and changing the health culture among patients and doctors all require ethical and political competence rather than traditional medical skills. The author advocates the development of a new discipline, medical politics, with two major commitments: -To define basic health rights -To study the public health consequences of political systems and decisions. In a polemic and provocative style the article enlightens the potentials and dangers associated with an expanded concept of preventive medicine.

  3. Medical Imaging.

    Science.gov (United States)

    Barker, M. C. J.

    1996-01-01

    Discusses four main types of medical imaging (x-ray, radionuclide, ultrasound, and magnetic resonance) and considers their relative merits. Describes important recent and possible future developments in image processing. (Author/MKR)

  4. Medical error

    African Journals Online (AJOL)

    QuickSilver

    Michael Berk. Department of Psychiatry, University of Melbourne, Australia .... inaccurate and inflammatory media reports their community accepted the ex- ... non-medical situations such as the aviation industry and nuclear power tech- nology ...

  5. Medical Illustration

    Science.gov (United States)

    ... Accredited programs prepare students for a career in academic or research health science centers, industry, or consulting. As members of the health career profession with strong communication skills, medical illustrators work closely with clients to interpret ...

  6. Medical education.

    Science.gov (United States)

    Krishnan, P

    1992-01-01

    In theory, the Medical Council of India (MCI) determines the standards and qualifications of medical schools. It also sanctions curricula and ensures standards. Yet no standards exist on the mode of selection in medical schools, duration of study, course content, student stipends or period of internship. It takes 4.5 years to finish medical school. Students undergo preclinical, paraclinical, and clinical training. Most courses are in English which tends to favor the urban elite. Students cannot always communicate with patients in local languages. Textbooks often provide medical examples unrelated to India. Pedagogy consists mainly of lectures and rote learning predominates. Curricula tend not to provide courses in community health. Students pick up on the elitist attitudes of the faculty. For example, faculty do not put much emphasis on community health, individual health, equity in health care delivery, and teamwork. Further the education system is not patient oriented, but hospital or disease oriented. Faculty should train students in creating sanitation programs, knowing local nutritious foods, and in making community diagnoses. Yet they tend to be practitioners 1st then educators. Further faculty are not paid well and are not always invited to take part in improving curriculum, so morale is often low. Moreover experience in health planning and management issues is not required for administrators. In addition, medical schools are not well equipped with learning aids, libraries, or teaching staff. Tax revenues finance medical education. 75% of graduating physicians set up a private practice. Further many physicians go to urban areas. 34-57% emigrate to other countries. The problems of medical education will not be solved until the political and economic system becomes more responsive to the health needs of the people.

  7. Reproduction, genetics and the law.

    Science.gov (United States)

    Crockin, Susan L

    2005-06-01

    Both reproductive medicine and genetics are seeing rapid, and in some instances revolutionary, medical and scientific advances. Courts have been called upon to resolve a variety of novel disputes arising from these areas, and more can be anticipated as these technologies continue to develop and their use becomes more widespread. This article discusses some of the most relevant areas of the law and litigation that currently bear on reproduction and genetics or that may be anticipated to do so in the future. Specific developments and judicial decisions addressing them include: legal theories of wrongful birth and wrongful life and their application to children born with genetic impairments; a physician's duty to warn family members about a relative's genetic disease; disputes over reproductive materials and non-reproductive cells and tissues; unauthorized genetic testing in the workplace; and genetic discrimination. It is hoped that this discussion will be of value to medical and legal professionals and policy makers who work with these concepts in the increasingly inter-related fields of law and medicine.

  8. Medical intellectuals: resisting medical orientalism.

    Science.gov (United States)

    Aull, Felice; Lewis, Bradley

    2004-01-01

    In this paper, we propose analogies between medical discourse and Edward Said's "Orientalism." Medical discourse, like Orientalism, tends to favor institutional interests and can be similarly dehumanizing in its reductionism, textual representations, and construction of its subjects. To resist Orientalism, Said recommends that critics--"intellectuals"--adopt the perspective of exile. We apply Said's paradigm of intellectual-as-exile to better understand the work of key physician-authors who cross personal and professional boundaries, who engage with patients in mutually therapeutic relationships, and who take on the public responsibility of representation and advocacy. We call these physician-authors "medical intellectuals" and encourage others to follow in their path.

  9. Medical Renaissance.

    Science.gov (United States)

    Toledo-Pereyra, Luis H

    2015-06-01

    The Medical Renaissance started as the regular Renaissance did in the early 1400s and ended in the late 1600s. During this time great medical personalities and scholar humanists made unique advances to medicine and surgery. Linacre, Erasmus, Leonicello and Sylvius will be considered first, because they fit the early classic Renaissance period. Andreas Vesalius and Ambroise Paré followed thereafter, making outstanding anatomical contributions with the publication of the "Human Factory" (1543) by Vesalius, and describing unique surgical developments with the publication of the "The Apologie and Treatise of Ambroise Paré." At the end of the Renaissance and beginning of the New Science, William Harvey, noted British medical doctor and cardiovascular researcher, discovered the general circulation. He published his findings in "The Motu Cordis" in 1628 (Figure 1). The Medical Renaissance, in summary, included a great number of accomplished physicians and surgeons who made especial contributions to human anatomy; Vesalius assembled detailed anatomical information; Paré advanced surgical techniques; and Harvey, a medical genius, detailed the circulatory anatomy and physiology.

  10. Genetic GIScience

    DEFF Research Database (Denmark)

    Jacquez, Geoffrey; Sabel, Clive E; Shi, Chen

    2015-01-01

    The exposome, defined as the totality of an individual's exposures over the life course, is a seminal concept in the environmental health sciences. Although inherently geographic, the exposome as yet is unfamiliar to many geographers. This article proposes a place-based synthesis, genetic...... geographic information science (genetic GIScience), that is founded on the exposome, genome+, and behavome. It provides an improved understanding of human health in relation to biology (the genome+), environmental exposures (the exposome), and their social, societal, and behavioral determinants (the behavome......). Genetic GIScience poses three key needs: first, a mathematical foundation for emergent theory; second, process-based models that bridge biological and geographic scales; third, biologically plausible estimates of space?time disease lags. Compartmental models are a possible solution; this article develops...

  11. Medical Applications

    CERN Document Server

    Biscari, C.

    2014-12-19

    The use of accelerators for medical applications has evolved from initial experimentation to turn-key devices commonly operating in hospitals. New applications are continuously being developed around the world, and the hadrontherapy facilities of the newest generation are placed at the frontier between industrial production and advanced R&D. An introduction to the different medical application accelerators is followed by a description of the hadrontherapy facilities, with special emphasis on CNAO, and the report closes with a brief outlook on the future of this field.

  12. Medical emplotment

    DEFF Research Database (Denmark)

    Mønsted, Troels Sune

    ’. Theoretically the project departs from Computer Supported Cooperative Work and Participatory Design and is informed by Medical Informatics, Design Research and Science and Technology Studies. Methodically the project is founded on collaborative prototyping, ethnographic studies, and design interventions...... philosophy and building on theory on narrative reasoning, the dissertation offers the notions of emplotment and re-emplotment to describe how physicians marshal information from various sources, including the medical record, the patient and coSummary to form a narrative, when making sense of patients...

  13. Medical leasing.

    Science.gov (United States)

    Holden, Elizabeth A

    2012-01-01

    Leases for medical space can have far-reaching (and sometimes unintentional) consequences for the future of the practice and the costs of the business. In order to prevent hardship and expense down the line, it is especially important to review the lease to make sure that it reflects the practice's goals, needs, and structure. This article provides a number of provisions that are especially crucial to review and negotiate when leasing medical space, including use restrictions, assignment and subleasing clauses, build-out terms, and legal compliance requirements.

  14. Medical emplotment

    DEFF Research Database (Denmark)

    Mønsted, Troels Sune

    ’. Theoretically the project departs from Computer Supported Cooperative Work and Participatory Design and is informed by Medical Informatics, Design Research and Science and Technology Studies. Methodically the project is founded on collaborative prototyping, ethnographic studies, and design interventions...... philosophy and building on theory on narrative reasoning, the dissertation offers the notions of emplotment and re-emplotment to describe how physicians marshal information from various sources, including the medical record, the patient and coSummary to form a narrative, when making sense of patients...

  15. RNA genetics

    Energy Technology Data Exchange (ETDEWEB)

    Domingo, E. (Instituto de Biologia Molecular, Facultad de Ciencias, Universidad Autonoma de Madrid, Canto Blanco, Madrid (ES)); Holland, J.J. (California Univ., San Diego, La Jolla, CA (USA). Dept. of Biology); Ahlquist, P. (Wisconsin Univ., Madison, WI (USA). Dept. of Plant Pathology)

    1988-01-01

    This book contains the proceedings on RNA genetics: RNA-directed virus replication Volume 1. Topics covered include: Replication of the poliovirus genome; Influenza viral RNA transcription and replication; and Relication of the reoviridal: Information derived from gene cloning and expression.

  16. Genetic counseling

    Science.gov (United States)

    ... MF, eds. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice . 7th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 30. Review Date 1/25/2016 Updated by: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare ...

  17. Medical Transcriptionists

    Science.gov (United States)

    ... Contact & Help Economic Releases Latest Releases » Major Economic Indicators » Schedules for news Releases » By Month By News ... employed in 2014. Most medical transcriptionists work for hospitals or in ... risk management, legal issues relating to healthcare documentation, and English ...

  18. Glaucoma medications.

    Science.gov (United States)

    Chae, Bora; Cakiner-Egilmez, Tulay; Desai, Manishi

    2013-01-01

    Glaucoma is a common eye condition that affects millions of individuals worldwide, making it the second-leading cause of blindness. Because glaucoma is associated with increased IOP level, the primary goal in treatment of glaucoma includes lowering IOP to prevent further progression of the disease. While various surgical interventions exist, medical therapy is currently the first line of treatment. Medical treatment of glaucoma includes topical beta-blockers, alpha-2 agonists, prostaglandins, parasympathomimetics and CAIs. Anti-glaucoma agents help reduce IOP by affecting the production of aqueous humor or increasing the outflow of aqueous through the trabecular or uveoscleral pathway. Choosing an appropriate medical regimen can be challenging and various factors such as efficacy, safety, cost and patient compliance must be considered. First-line treatment is often topical beta-blockers or prostaglandin analogs. However, beta-blocking agents can be associated with systemic side effects and need to be used cautiously in patients with serious concomitant cardiopulmonary disease. Alpha-2 agonists and parasympathomimetics are often considered second- or third-line treatment options but good adjunctive agents. Oral CAIs are often indicated for patients with elevated IOP in an acute setting or for patients resistant to other glaucoma medications and patients who are not good surgical candidates.

  19. Medic Bleep.

    Science.gov (United States)

    2017-03-15

    Medic Bleep is a secure instant messaging app that enables clinicians to discuss patient care quickly, securely and legally. It looks and feels like WhatsApp, but has been designed for the healthcare market to enable staff to communicate with each other, and to help speed up conversations between clinicians to increase efficiency.

  20. Medication Errors

    Science.gov (United States)

    ... Proprietary Names (PDF - 146KB) Draft Guidance for Industry: Best Practices in Developing Proprietary Names for Drugs (PDF - 279KB) ... or (301) 796-3400 druginfo@fda.hhs.gov Human Drug ... in Medication Errors Resources for You Agency for Healthcare Research and Quality: ...

  1. Inconsistencies in pedigree symbols in human genetics publications: A need for standardization

    Energy Technology Data Exchange (ETDEWEB)

    Steinhaus, K.A.; Bennett, R.L.; Resta, R.G. [Univ. of California at Irvine, Orange, CA (United States)] [and others

    1995-04-10

    To determine consistency in usage of pedigree symbols by genetics professionals, we reviewed pedigrees printed in 10 human genetic and medical journals and 24 medical genetics textbooks. We found no consistent symbolization for common situations such as pregnancy, spontaneous abortion, death, or test results. Inconsistency in pedigree design can create difficulties in the interpretation of family studies and detract from the pedigree`s basic strength of simple and accurate communication of medical information. We recommend the development of standard pedigree symbols, and their incorporation into genetic publications, professional genetics training programs, pedigree software programs, and genetic board examinations. 5 refs., 11 figs., 2 tabs.

  2. [Genetics of sudden unexplained death].

    Science.gov (United States)

    Campuzano, Oscar; Allegue, Catarina; Brugada, Ramon

    2014-03-20

    Sudden unexplained death is defined by death without a conclusive diagnosis after autopsy and it is responsible for a large percentage of sudden deaths. The progressive interaction between genetics and forensics in post-mortem studies has identified inheritable alterations responsible for pathologies associated with arrhythmic sudden death. The genetic diagnosis of the deceased enables the undertaking of preventive measures in family members, many of them asymptomatic but at risk. The implications of this multidisciplinary translational medical approach are complex, requiring the dedication of a specialized team. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  3. Medication Errors - A Review

    OpenAIRE

    Vinay BC; Nikhitha MK; Patel Sunil B

    2015-01-01

    In this present review article, regarding medication errors its definition, medication error problem, types of medication errors, common causes of medication errors, monitoring medication errors, consequences of medication errors, prevention of medication error and managing medication errors have been explained neatly and legibly with proper tables which is easy to understand.

  4. Medication Errors - A Review

    OpenAIRE

    Vinay BC; Nikhitha MK; Patel Sunil B

    2015-01-01

    In this present review article, regarding medication errors its definition, medication error problem, types of medication errors, common causes of medication errors, monitoring medication errors, consequences of medication errors, prevention of medication error and managing medication errors have been explained neatly and legibly with proper tables which is easy to understand.

  5. Medical devices; immunology and microbiology devices; classification of nucleic acid-based devices for the detection of Mycobacterium tuberculosis complex and the genetic mutations associated with antibiotic resistance. Final order.

    Science.gov (United States)

    2014-10-22

    The Food and Drug Administration (FDA) is classifying nucleic acid-based in vitro diagnostic devices for the detection of Mycobacterium tuberculosis complex (MTB-complex) and the genetic mutations associated with MTB-complex antibiotic resistance in respiratory specimens devices into class II (special controls). The Agency is classifying the device into class II (special controls) because special controls, in addition to general controls, will provide a reasonable assurance of safety and effectiveness of the device.

  6. Medical imaging

    CERN Document Server

    Townsend, David W

    1996-01-01

    Since the introduction of the X-ray scanner into radiology almost 25 years ago, non-invasive imaging has become firmly established as an essential tool in the diagnosis of disease. Fully three-dimensional imaging of internal organs is now possible, b and for studies which explore the functional status of the body. Powerful techniques to correlate anatomy and function are available, and scanners which combine anatomical and functional imaging in a single device are under development. Such techniques have been made possible through r ecent technological and mathematical advances. This series of lectures will review both the physical basis of medical imaging techniques using X-rays, gamma and positron emitting radiosiotopes, and nuclear magnetic resonance, and the mathematical methods used to reconstruct three-dimentional distributions from projection data. The lectures will trace the development of medical imaging from simple radiographs to the present-day non-invasive measurement of in vivo biochemistry. They ...

  7. Medical physics

    Energy Technology Data Exchange (ETDEWEB)

    Pope, J.A. (Plymouth College (UK))

    1989-01-01

    A book on 'Medical Physics' is written in three parts. Part I discusses the physics of the human body including the expenditure of energy, human mechanics and the human response to light and sound. Part II describes the monitoring of various physiological parameters, such as temperatures and pressure using specialized transducers and systems employing radiotelemetric, ultrasonic and fibre-optic techniques. Part III on ionizing radiations discusses the production, properties and detection of the different radiations and the elements of dosimetry. The different types of radiation detectors are also described. Finally the diagnostic applications of radioactive tracer studies are discussed. The material selected for inclusion in this book reflects the requirements of the Joint Matriculation Board's A-level option on Medical Physics and at the end of each of the 15 chapters, there are questions on the content. Part III of the book has been selected and indexed separately. (UK).

  8. Melanoma genetics

    DEFF Research Database (Denmark)

    Read, Jazlyn; Wadt, Karin A W; Hayward, Nicholas K

    2016-01-01

    Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence...... of heritable melanoma risk genes is an important component of disease occurrence. Susceptibility for some families is due to mutation in one of the known high penetrance melanoma predisposition genes: CDKN2A, CDK4, BAP1, POT1, ACD, TERF2IP and TERT. However, despite such mutations being implicated...... in a combined total of approximately 50% of familial melanoma cases, the underlying genetic basis is unexplained for the remainder of high-density melanoma families. Aside from the possibility of extremely rare mutations in a few additional high penetrance genes yet to be discovered, this suggests a likely...

  9. [Quality assurance in human genetic testing].

    Science.gov (United States)

    Stuhrmann-Spangenberg, Manfred

    2015-02-01

    Advances in technical developments of genetic diagnostics for more than 50 years, as well as the fact that human genetic testing is usually performed only once in a lifetime, with additional impact for blood relatives, are determining the extraordinary importance of quality assurance in human genetic testing. Abidance of laws, directives, and guidelines plays a major role. This article aims to present the major laws, directives, and guidelines with respect to quality assurance of human genetic testing, paying careful attention to internal and external quality assurance. The information on quality assurance of human genetic testing was obtained through a web-based search of the web pages that are referred to in this article. Further information was retrieved from publications in the German Society of Human Genetics and through a PubMed-search using term quality + assurance + genetic + diagnostics. The most important laws, directives, and guidelines for quality assurance of human genetic testing are the gene diagnostics law (GenDG), the directive of the Federal Medical Council for quality control of clinical laboratory analysis (RiliBÄK), and the S2K guideline for human genetic diagnostics and counselling. In addition, voluntary accreditation under DIN EN ISO 15189:2013 offers a most recommended contribution towards quality assurance of human genetic testing. Legal restraints on quality assurance of human genetic testing as mentioned in § 5 GenDG are fulfilled once RiliBÄK requirements are followed.

  10. Genetic Aspects of Alzheimer Disease

    Science.gov (United States)

    Williamson, Jennifer; Goldman, Jill; Marder, Karen S.

    2011-01-01

    Background Alzheimer disease (AD) is a genetically complex disorder. Mutations in 3 genes, presenilin 1, amyloid precursor protein, and presenilin 2, lead to early-onset familial AD in rare families with onset of disease occurring prior to age 65. Specific polymorphisms in apolipoprotein E are associated with the more common, late-onset AD occurring after age 65. In this review, we discuss current advances in AD genetics, the implications of the known AD genes, presenilin 1, presenilin 2, amyloid precursor protein, and apolipoprotein E, and other possible genes on the clinical diagnosis, treatment, and genetic counseling of patients and families with early- and late-onset AD. Review Summary In addition to the mutations in 4 known genes associated with AD, mutations in other genes may be implicated in the pathogenesis of the disease. Most recently, 2 different research groups have reported genetic association between 2 genes, sortilin-related receptor and GAB2, and AD. These associations have not changed the diagnostic and medical management of AD. Conclusions New research in the genetics of AD have implicated novel genes as having a role in the disease, but these findings have not been replicated nor have specific disease causing mutations been identified. To date, clinical genetic testing is limited to familial early-onset disease for symptomatic individuals and asymptomatic relatives and, although not recommended, amyloid precursor protein apolipoprotein E testing as an adjunct to diagnosis of symptomatic individuals. PMID:19276785

  11. Genetic Testing for ALS

    Science.gov (United States)

    ... Involved Donate Familial Amyotrophic Lateral Sclerosis (FALS) and Genetic Testing By Deborah Hartzfeld, MS, CGC, Certified Genetic Counselor ... in your area, please visit www.nsgc.org . Genetic Testing Genetic testing can help determine the cause of ...

  12. Genetic Science Learning Center

    Science.gov (United States)

    ... Mouse Party on Learn.Genetics.utah.edu Students doing the Tree of Genetic Traits activity Learn.Genetics is one of the most widely used science education websites in the world The Community Genetics ...

  13. Genetic studies in alcohol research

    Energy Technology Data Exchange (ETDEWEB)

    Karp, R.W. [National Institute on Alcohol Abuse and Alcoholism, Rockville, MD (United States)

    1994-12-15

    The National Institute on Alcohol Abuse and Alcoholism (NIAAA) supports research to elucidate the specific genetic factors, now largely unknown, which underlie susceptibility to alcoholism and its medical complications (including fetal alcohol syndrome). Because of the genetic complexity and heterogeneity of alcoholism, identification of the multiple underlying factors will require the development of new study designs and methods of analysis of data from human families. While techniques of genetic analysis of animal behavioral traits (e.g., targeted gene disruption, quantitative trait locus (QTL) mapping) are more powerful that those applicable to humans (e.g., linkage and allelic association studies), the validation of animal behaviors as models of aspects of human alcoholism has been problematic. Newly developed methods for mapping QTL influencing animal behavioral traits can not only permit analyses of human family data to be directly informed by the results of animal studies, but can also serve as a novel means of validating animal models of aspects of alcoholism. 55 refs.

  14. Medical robotics

    CERN Document Server

    Troccaz, Jocelyne

    2013-01-01

    In this book, we present medical robotics, its evolution over the last 30 years in terms of architecture, design and control, and the main scientific and clinical contributions to the field. For more than two decades, robots have been part of hospitals and have progressively become a common tool for the clinician. Because this domain has now reached a certain level of maturity it seems important and useful to provide a state of the scientific, technological and clinical achievements and still open issues. This book describes the short history of the domain, its specificity and constraints, and

  15. Medical Physics

    OpenAIRE

    Voto Bernales, Juan; Facultad de Medicina, Universidad Nacional Mayor de San Marcos, Lima, Perú

    2014-01-01

    Medical Physics is to study the physical phenomena that occur in the body and exert action on the agents. It also addresses the manner taught natural agents in the study and exploration of the human body and in the way in the same agents for use in the treatment of disease can be used. La Física Médica tiene por objeto estudiar los fenómenos físicos que se realizan en el organismo y la acción que sobre el ejercen los agentes. Se ocupa, además, de enseñar la manera cómo pueden utilizarse lo...

  16. Medical revolution in Argentina.

    Science.gov (United States)

    Ballarin, V L; Isoardi, R A

    2010-01-01

    The paper discusses the major Argentineans contributors, medical physicists and scientists, in medical imaging and the development of medical imaging in Argentina. The following are presented: history of medical imaging in Argentina: the pioneers; medical imaging and medical revolution; nuclear medicine imaging; ultrasound imaging; and mathematics, physics, and electronics in medical image research: a multidisciplinary endeavor.

  17. Genetics of Inflammatory Bowel Diseases.

    Science.gov (United States)

    McGovern, Dermot P B; Kugathasan, Subra; Cho, Judy H

    2015-10-01

    In this review, we provide an update on genome-wide association studies (GWAS) in inflammatory bowel disease (IBD). In addition, we summarize progress in defining the functional consequences of associated alleles for coding and noncoding genetic variation. In the small minority of loci where major association signals correspond to nonsynonymous variation, we summarize studies defining their functional effects and implications for therapeutic targeting. Importantly, the large majority of GWAS-associated loci involve noncoding variation, many of which modulate levels of gene expression. Recent expression quantitative trait loci (eQTL) studies have established that the expression of most human genes is regulated by noncoding genetic variations. Significant advances in defining the epigenetic landscape have demonstrated that IBD GWAS signals are highly enriched within cell-specific active enhancer marks. Studies in European ancestry populations have dominated the landscape of IBD genetics studies, but increasingly, studies in Asian and African-American populations are being reported. Common variation accounts for only a modest fraction of the predicted heritability and the role of rare genetic variation of higher effects (ie, odds ratios markedly deviating from 1) is increasingly being identified through sequencing efforts. These sequencing studies have been particularly productive in more severe very early onset cases. A major challenge in IBD genetics will be harnessing the vast array of genetic discovery for clinical utility through emerging precision medical initiatives. In this article, we discuss the rapidly evolving area of direct-to-consumer genetic testing and the current utility of clinical exome sequencing, especially in very early onset, severe IBD cases. We summarize recent progress in the pharmacogenetics of IBD with respect to partitioning patient responses to anti-TNF and thiopurine therapies. Highly collaborative studies across research centers and

  18. How Sensitive Is Genetic Data?

    Science.gov (United States)

    Sariyar, Murat; Suhr, Stephanie; Schlünder, Irene

    2017-09-07

    The rising demand to use genetic data for research goes hand in hand with an increased awareness of privacy issues related to its use. Using human genetic data in a legally compliant way requires an examination of the legal basis as well as an assessment of potential disclosure risks. Focusing on the relevant legal framework in the European Union, we discuss open questions and uncertainties around the handling of genetic data in research, which can result in the introduction of unnecessary hurdles for data sharing. First, we discuss defining features and relative disclosure risks of some DNA-related biomarkers, distinguishing between the risk for disclosure of (1) the identity of an individual, (2) information about an individual's health and behavior, including previously unknown phenotypes, and (3) information about an individual's blood relatives. Second, we discuss the European legal framework applicable to the use of DNA-related biomarkers in research, the implications of including both inherited and acquired traits in the legal definition, as well as the issue of "genetic exceptionalism"-the notion that genetic information has inherent characteristics that require different considerations than other health and medical information. Finally, by mapping the legal to specific technical definitions, we draw some initial conclusions concerning how sensitive different types of "genetic data" may actually be. We argue that whole genome sequences may justifiably be considered "exceptional" and require special protection, whereas other genetic data that do not fulfill the same criteria should be treated in a similar manner to other clinical data. This kind of differentiation should be reflected by the law and/or other governance frameworks as well as agreed Codes of Conduct when using the term "genetic data."

  19. From Genetics to Genomics of Epilepsy

    Directory of Open Access Journals (Sweden)

    Silvio Garofalo

    2012-01-01

    Full Text Available The introduction of DNA microarrays and DNA sequencing technologies in medical genetics and diagnostics has been a challenge that has significantly transformed medical practice and patient management. Because of the great advancements in molecular genetics and the development of simple laboratory technology to identify the mutations in the causative genes, also the diagnostic approach to epilepsy has significantly changed. However, the clinical use of molecular cytogenetics and high-throughput DNA sequencing technologies, which are able to test an entire genome for genetic variants that are associated with the disease, is preparing a further revolution in the near future. Molecular Karyotype and Next-Generation Sequencing have the potential to identify causative genes or loci also in sporadic or non-familial epilepsy cases and may well represent the transition from a genetic to a genomic approach to epilepsy.

  20. Medical robotics.

    Science.gov (United States)

    Ferrigno, Giancarlo; Baroni, Guido; Casolo, Federico; De Momi, Elena; Gini, Giuseppina; Matteucci, Matteo; Pedrocchi, Alessandra

    2011-01-01

    Information and communication technology (ICT) and mechatronics play a basic role in medical robotics and computer-aided therapy. In the last three decades, in fact, ICT technology has strongly entered the health-care field, bringing in new techniques to support therapy and rehabilitation. In this frame, medical robotics is an expansion of the service and professional robotics as well as other technologies, as surgical navigation has been introduced especially in minimally invasive surgery. Localization systems also provide treatments in radiotherapy and radiosurgery with high precision. Virtual or augmented reality plays a role for both surgical training and planning and for safe rehabilitation in the first stage of the recovery from neurological diseases. Also, in the chronic phase of motor diseases, robotics helps with special assistive devices and prostheses. Although, in the past, the actual need and advantage of navigation, localization, and robotics in surgery and therapy has been in doubt, today, the availability of better hardware (e.g., microrobots) and more sophisticated algorithms(e.g., machine learning and other cognitive approaches)has largely increased the field of applications of these technologies,making it more likely that, in the near future, their presence will be dramatically increased, taking advantage of the generational change of the end users and the increasing request of quality in health-care delivery and management.

  1. Smoking cessation medications

    Science.gov (United States)

    Smoking cessation - medications; Smokeless tobacco - medications; Medications for stopping tobacco ... Creating a plan to help you deal with smoking urges. Getting support from a doctor, counselor, or ...

  2. [Genetic amniocentesis].

    Science.gov (United States)

    Violante Díaz, M; Carrillo Hinojosa, M; García Necoechea, M P; Escobedo Aguirre, F; Lowenberg Favela, E; Ahued Ahued, J R

    1989-04-01

    179 patients were studied by genetic amniocentesis (GA) in sessions of 3 punctures each. This was done in order to follow a prenatal diagnosis (PD) program and study amniotic fluid at the Hospital Regional 20 de Novembre (ISSSTE) between May 1983 and December 1987. The parameters taken were: age, indications, number of sessions, number punctures, echosonographic studies for gestational age, placental insertion, punction site, amniotic fluid volume, blood contamination, failures and handling of the patient. A low incidence of abortion is reported. We don't have cases of dripping of amniotic fluid or transvaginal haemorrhage. Multiple insertion of the needle and placental or vessel lesions of the cord, as causes of a fetal death are still argued if we have in mind avoiding chances; we didn't have those complications in our cases. The percent is low if there are not previous spontaneous abortions. 79% of the amniotic fluid samples were sent between the 15th and 17th weeks of pregnancy. For alpha fetus protein determination 12 and for biochemical studies 1, specially for beta-galactosidase level. This was done at the Biomedical Investigation Institute of the National Autonomous University of Mexico (in parents with generalized gangliosidosis GM1). Even though results were good, the technique has still risks and complications. An ultrasonic study of the procedures made by physicians with trustable experience is needed. Our country has the need to create more Prenatal Genetic Diagnosis Centers.

  3. MEDICAL IMAGE COLOUR TRANSFER AND 3 D RECONSTRUCTION BASED ON IMPROVED GENETIC ALGORITHM%基于改进遗传算法的医学图片颜色迁移及重构

    Institute of Scientific and Technical Information of China (English)

    蒋先刚; 丘赟立; 熊娟

    2013-01-01

    为了得到有效和符合真实人体器官组织的彩色仿真图片,通过灰色MRI切片和真彩图像的亮度及纹理的适应度的搜索取优而实现灰度MRI切片的颜色迁移。着重研究将改进遗传算法与点邻域亮度纹理分布和局部颜色结构分布相结合,并应用于Welsh图像彩色化算法和比较,探索用于遗传算法的种群选择、交叉和变异、编码方式和码值渐变自适应等调整技术和方法。将点邻域分布和彩色局部分布的彩色特征通过穷举法、随机法和遗传算法进行最优彩色点搜索分析比较。最后得到的彩色化的MRI切片的三维重构模型能多层次清晰地反映器官组织的分布和构造。%In order to gain the colourful simulated image of human organs and tissues which are valid and in line with the real , we realise the colour transferring of a gray MRI slice by searching and picking up the optimal fitness of a gray MRI slice to the brightness and textures of a true colour image .In this paper we particularly study the combination of the improved genetic algorithm with the distribution of brightness and textures within pixel neighbourhood and the local colour structure , and apply our study to Welsh image colourisation algorithm and comparison, probe the adjustment technologies and ways of population selection , crossover and mutation , coding mode and code value gradual varying adaptiveness , all are used in genetic algorithm .By using exhaust algorithm , random algorithm and genetic algorithm , colour characteristics with pixels neighbourhood distribution and with local colour distribution are analysed and compared for best colour points search.The reconstructed 3D model of colourised MRI slices eventually derived can clearly and in multi-level reflect the distribution and construction of human organs and tissues .

  4. [Custom-made medicine: preimplantation genetic diagnosis].

    Science.gov (United States)

    Sperling, Karl

    2006-01-01

    Who wants Preimplantation Genetic Diagnosis (PGD), who rejects it? The implications resulting from biological facts and legal regulations are addressed here. It is discussed under which conditions the restrictions of the Embryo Protection Act (Embryonenschutzgesetz, EschG) should be relaxed in order to be able to perform assisted reproduction technologies in Germany under international quality standards and also PGD in cases of stringent medical-genetic conditions.

  5. Proteomics in medical microbiology.

    Science.gov (United States)

    Cash, P

    2000-04-01

    The techniques of proteomics (high resolution two-dimensional electrophoresis and protein characterisation) are widely used for microbiological research to analyse global protein synthesis as an indicator of gene expression. The rapid progress in microbial proteomics has been achieved through the wide availability of whole genome sequences for a number of bacterial groups. Beyond providing a basic understanding of microbial gene expression, proteomics has also played a role in medical areas of microbiology. Progress has been made in the use of the techniques for investigating the epidemiology and taxonomy of human microbial pathogens, the identification of novel pathogenic mechanisms and the analysis of drug resistance. In each of these areas, proteomics has provided new insights that complement genomic-based investigations. This review describes the current progress in these research fields and highlights some of the technical challenges existing for the application of proteomics in medical microbiology. The latter concern the analysis of genetically heterogeneous bacterial populations and the integration of the proteomic and genomic data for these bacteria. The characterisation of the proteomes of bacterial pathogens growing in their natural hosts remains a future challenge.

  6. Genetic counsellors in Sweden: their role and added value in the clinical setting.

    Science.gov (United States)

    Pestoff, Rebecka; Ingvoldstad, Charlotta; Skirton, Heather

    2016-03-01

    Genetic testing is becoming more commonplace in general and specialist health care and should always be accompanied by genetic counselling, according to Swedish law. Genetic counsellors are members of the multi-disciplinary team providing genetic counselling. This study examined the role and added value of genetic counsellors in Sweden, using a cross-sectional on-line survey. The findings showed that the genetic counsellors added value in the clinical setting by acting as the 'spider-in-the-web' regarding case management, having a more holistic, ethical and psychological perspective, being able to offer continuous support and build a relationship with the patient, and being more accessible than medical geneticists. The main difference between a genetic counsellor and medical geneticist was that the doctor had the main medical responsibility. Thus genetic counsellors in Sweden contribute substantially to the care of patients in the clinical genetic setting.

  7. Medical telesensors

    Science.gov (United States)

    Ferrell, Trinidad L.; Crilly, P. B.; Smith, S. F.; Wintenberg, Alan L.; Britton, Charles L., Jr.; Morrison, Gilbert W.; Ericson, M. N.; Hedden, D.; Bouldin, Donald W.; Passian, A.; Downey, Todd R.; Wig, A. G.; Meriaudeau, Fabrice

    1998-05-01

    Medical telesensors are self-contained integrated circuits for measuring and transmitting vital signs over a distance of approximately 1-2 meters. The circuits are unhoused and contain a sensor, signal processing and modulation electronics, a spread-spectrum transmitter, an antenna and a thin-film battery. We report on a body-temperature telesensor, which is sufficiently small to be placed on a tympanic membrane in a child's ear. We also report on a pulse-oximeter telesensor and a micropack receiver/long- range transmitter unit, which receives form a telesensor array and analyzes and re-transmits the vital signs over a longer range. Signal analytics are presented for the pulse oximeter, which is currently in the form of a finger ring. A multichip module is presented as the basic signal-analysis component. The module contains a microprocessor, a field=programmable gate array, memory elements and other components necessary for determining trauma and reporting signals.

  8. [MEDICAL CANNABIS].

    Science.gov (United States)

    Naftali, Timna

    2016-02-01

    The cannabis plant has been known to humanity for centuries as a remedy for pain, diarrhea and inflammation. Current research is inspecting the use of cannabis for many diseases, including multiple sclerosis, epilepsy, dystonia, and chronic pain. In inflammatory conditions cannabinoids improve pain in rheumatoid arthritis and:pain and diarrhea in Crohn's disease. Despite their therapeutic potential, cannabinoids are not free of side effects including psychosis, anxiety, paranoia, dependence and abuse. Controlled clinical studies investigating the therapeutic potential of cannabis are few and small, whereas pressure for expanding cannabis use is increasing. Currently, as long as cannabis is classified as an illicit drug and until further controlled studies are performed, the use of medical cannabis should be limited to patients who failed conventional better established treatment.

  9. Medications (for IBS)

    Medline Plus

    Full Text Available ... Agents Antidepressant Medications Newer IBS Medications Probiotics and Antibiotics Pharmacologic, or drug, therapy is best used in ... Agents Antidepressant Medications Newer IBS Medications Probiotics and ... Treatments Understanding Stress Cognitive Behavioral Therapy Relaxation ...

  10. Medications (for IBS)

    Medline Plus

    Full Text Available ... Agents Antidepressant Medications Newer IBS Medications Probiotics and Antibiotics Pharmacologic, or drug, therapy is best used in ... Agents Antidepressant Medications Newer IBS Medications Probiotics and Antibiotics Psychological Treatments Understanding Stress Cognitive Behavioral Therapy Relaxation ...

  11. Medication/Drug Allergy

    Science.gov (United States)

    ... Science Education & Training Home Conditions Medication/Drug Allergy Medication/Drug Allergy Make an Appointment Find a Doctor ... immediate or delayed. What Is an Allergy to Medication/Drugs? Allergies to drugs/medications are complicated, because ...

  12. Medications (for IBS)

    Medline Plus

    Full Text Available ... Agents Antidiarrheal Agents Antidepressant Medications Newer IBS Medications Probiotics and Antibiotics Pharmacologic, or drug, therapy is best ... Agents Antidiarrheal Agents Antidepressant Medications Newer IBS Medications ... Psychological Treatments Understanding Stress Cognitive Behavioral ...

  13. Actuarial considerations on genetic testing.

    Science.gov (United States)

    Le Grys, D J

    1997-08-29

    In the UK the majority of life insurers employ relatively liberal underwriting standards so that people can easily gain access to life assurance cover. Up to 95% of applicants are accepted at standard terms. If genetic testing becomes widespread then the buying habits of the public may change. Proportionately more people with a predisposition to major types of disease may take life assurance cover while people with no predisposition may take proportionately less. A model is used to show the possible effect. However, the time-scales are long and the mortality of assured people is steadily improving. The change in buying habits may result in the rate of improvement slowing down. In the whole population, the improvement in mortality is likely to continue and could improve faster if widespread genetic testing results in earlier diagnosis and treatment. Life insurers would not call for genetic tests and need not see the results of previous tests except for very large sums assured. In the UK, life insurers are unlikely to change their underwriting standards, and are extremely unlikely to bring in basic premium rating systems that give discounts on the premium or penalty points according to peoples genetic profile. The implications of widespread genetic testing on medical insurance and some health insurance covers may be more extreme.

  14. Exploration and implementation for the construction of the quater-nary teaching system of medical genetics including teaching, practice, research and clinical application%“教学、实践、科研、临床”四位一体的医学遗传学教学体系建设探索与实践

    Institute of Scientific and Technical Information of China (English)

    周凤娟; 谢文美; 王强; 赵小荣

    2015-01-01

    医学遗传学课程介于基础医学和临床医学之间,是一门应用性很强的学科,在现代医学教育体系中有着重要的地位。教学团队在多年的医学遗传学教学实践中,在建设省级精品课程的过程中,构建了“教学、实践、科研、临床”四位一体的医学遗传学教学体系,主要内容包括“课堂教学、社会实践、科学研究、临床应用”四者之间相互渗透、相互补充、相互促进,以课堂教学为基础,用社会实践补充教学,科学研究提升教学,临床应用促进教学。“四位一体”教学体系为基础课程与临床课程的有机整合探索了一条切实可行的路子。实施几年来,课程建设收到了良好效果,学科团队科研水平、社会声誉、医疗服务能力也有明显提高。%Medical genetics, the connection between basic and clinical medicine, is a subject with strong applica-bility and plays important role in modern medical education system. Based on years of teaching experience and during the construction ofstate-level top quality course, our teaching team has established the quaternary teaching system of medical genetics which includes teaching, practice, research and clinical application. The four elements of the system interpenetrate, complement and reinforce each other. Specifically, classroom teaching is the basics which is fur-ther complemented by social practice, improved by research and promoted by clinical application. The quaternary teaching system provides a feasible way to integrate theoretical and clinical courses. After years of implementation, the teaching system has got great effects on the obvious improvement of research ability, social reputation and clinical service capacities of the research team.

  15. Genetics of hearing and deafness.

    Science.gov (United States)

    Angeli, Simon; Lin, Xi; Liu, Xue Zhong

    2012-11-01

    This article is a review of the genes and genetic disorders that affect hearing in humans and a few selected mouse models of deafness. Genetics is playing an increasingly critical role in the practice of medicine. This is not only in part to the importance that genetic knowledge has on traditional genetic diseases but also in part to the fact that genetic knowledge provides an understanding of the fundamental biological process of most diseases. The proteins coded by the genes related to hearing loss (HL) are involved in many functions in the ear, such as cochlear fluid homeostasis, ionic channels, stereocilia morphology and function, synaptic transmission, gene regulation, and others. Mouse models play a crucial role in understanding of the pathogenesis associated with these genes. Different types of familial HL have been recognized for years; however, in the last two decades, there has been tremendous progress in the discovery of gene mutations that cause deafness. Most of the cases of genetic deafness recognized today are monogenic disorders that can be broadly classified by the mode of inheritance (i.e., autosomal dominant, autosomal recessive, X-linked, and mitochondrial inheritance) and by the presence of associated phenotypic features (i.e., syndromic; and nonsyndromic). In terms of nonsyndromic HL, the chromosomal locations are currently known for ∼ 125 loci (54 for dominant and 71 for recessive deafness), 64 genes have been identified (24 for dominant and 40 for recessive deafness), and there are many more loci for syndromic deafness and X-linked and mitochondrial DNA disorders (http://hereditaryhearingloss.org). Thus, today's clinician must understand the science of medical genetics as this knowledge can lead to more effective disease diagnosis, counseling, treatment, and prevention.

  16. A genetic engineering approach to genetic algorithms.

    Science.gov (United States)

    Gero, J S; Kazakov, V

    2001-01-01

    We present an extension to the standard genetic algorithm (GA), which is based on concepts of genetic engineering. The motivation is to discover useful and harmful genetic materials and then execute an evolutionary process in such a way that the population becomes increasingly composed of useful genetic material and increasingly free of the harmful genetic material. Compared to the standard GA, it provides some computational advantages as well as a tool for automatic generation of hierarchical genetic representations specifically tailored to suit certain classes of problems.

  17. Essential Medical Capabilities and Medical Readiness

    Science.gov (United States)

    2016-07-01

    15-001098 Copy Essential Medical Capabilities and Medical Readiness John E. Whitley Joseph F. Adams Joseph J. Angello Jennifer T. Brooks Sarah K...other national challenges. Essential Medical Capabilities and Medical Readiness John E. Whitley Joseph F. Adams Joseph J. Angello Jennifer T. Brooks...noted that the ability of the Military Health System to provide operational healthcare is measured by the readiness of its medical personnel and

  18. Genetics Home Reference: Jervell and Lange-Nielsen syndrome

    Science.gov (United States)

    ... Congenital Heart Defects Health Topic: Hearing Disorders and Deafness Genetic and Rare Diseases Information Center (1 link) ... list from the University of Kansas Medical Center Sudden Arrhythmia Death Syndromes (SADS) Foundation: Long QT Syndrome ...

  19. Medical muddle.

    Science.gov (United States)

    Gartrell, Nanette

    2014-01-01

    Nanette Gartrell, MD, is a psychiatrist and researcher whose investigations have documented the mental health and psychological well-being of lesbian, gay, bisexual, and transgender (LGBT) people over the past four decades. Nanette is the principal investigator of an ongoing longitudinal study of lesbian families in which the children were conceived by donor insemination. Now in its 27th year, this project has been cited internationally in the debates over equality in marriage, foster care, and adoption. Previously on the faculty at Harvard Medical School and the University of California, San Francisco, Nanette is currently a Visiting Distinguished Scholar at the Williams Institute, UCLA School of Law. In 2013, Nanette received the Association of Women Psychiatrists Presidential Commendation Award for "selfless and enduring vision, leadership, wisdom, and mentorship in the fields of women's mental health, ethics, and gender research." At the age of 63, Nanette experienced a 3 ½ month period of intractable, incapacitating dizziness for which there was never a clear diagnosis.

  20. MEDICAL PROFESSIONALISH

    Directory of Open Access Journals (Sweden)

    Jože Drinovec

    2002-12-01

    Full Text Available Background. Due to restrictions imposed on a clinical freedom, interest for professionalism in healthcare has been getting bigger not only in medicine literature and various mass media but also in teaching and organisation of healthcare. Professionalism stands not only for a medicine’s contract with society, recognition of a physician status, privilege and monopoly but also for a genuine physician’s commitment to professional responsibilities.Analysis. In 2002 European and American associations approved a document on medical professionalism in the new millenium, so-called Physician Charter. This document includes fundamental principles of professionalism such as altruism, patient autonomy and social justice. In particular, it analyses a physician’s professional competency, honesty with patients, patient confidentiality, appropriate relations with patients, improvements regarding a healthcare quality, healthcare access, just distribution of finite funds, commitment to scientific knowledge, trust maintenance by managing conflicts of interest and a professional responsibility.Conclusions. Physician’s professionalism means philosophycal and sociological analysis of his/her profession and its position in a society. It includes a concern for improvements of his/ her own scientific knowledge, skills, a genuine ethic interest for an individual patient bearing in mind principles of equality and justice in society. Whether performing an organisational and public work or participating in professional health organizations, physician’s interest for a patient must prevail.

  1. Sexual Dysfunction Due to Psychotropic Medications.

    Science.gov (United States)

    Clayton, Anita H; Alkis, Andrew R; Parikh, Nishant B; Votta, Jennifer G

    2016-09-01

    Sexual functioning is important to assess in patients with psychiatric illness as both the condition and associated treatment may contribute to sexual dysfunction (SD). Antidepressant medications, mood stabilizers, antipsychotics, and antianxiety agents may be associated with SD related to drug mechanism of action. Sexual adverse effects may be related to genetic risk factors, impact on neurotransmitters and hormones, and psychological elements. Effective strategies to manage medication-induced sexual dysfunction are initial choice of a drug unlikely to cause SD, switching to a different medication, and adding an antidote to reverse SD. Appropriate interventions should be determined on a clinical case-by-case basis.

  2. Genetic Factors that Affect Tumorigenesis in NF1

    Science.gov (United States)

    2004-11-01

    Boles, R. and Korf, B. (1995) Sanitarias de la Seguridad Social (98-0992) and Institut Catali Deletion of the entire NFI gene detected by FISH: four...Washington, Medical Genetics, Seattle, WA, USA, 2Medical and Molecular Genetics Center- IRO, Hospital Duran i Reynals, Barcelona, Spain, 3Servizio di... Hospital . Western blot analysis, using an anti-NF1 antibody (NFIGRD(D)) (Santa Cruz Biotechnology Inc, Santa Cruz, NF1 mutation analysis CA) and

  3. Genetics and Rheumatic Disease

    Science.gov (United States)

    ... Well with Rheumatic Disease Genetics and Rheumatic Disease Genetics and Rheumatic Disease Fast Facts Studying twins has ... 70%, and for non-identical pairs, even lower. Genetics and ankylosing spondylitis Each rheumatic disease has its ...

  4. Applying the New Genetics

    Science.gov (United States)

    Sorenson, James

    1976-01-01

    New developments in the prediction and treatment of genetic diseases are presented. Genetic counseling and the role of the counselor, and rights of individuals to reproduce versus societal impact of genetic disorders, are discussed. (RW)

  5. Genetics and Rheumatic Disease

    Science.gov (United States)

    ... Well with Rheumatic Disease Genetics and Rheumatic Disease Genetics and Rheumatic Disease Fast Facts Studying twins has ... 70%, and for non-identical pairs, even lower. Genetics and ankylosing spondylitis Each rheumatic disease has its ...

  6. [Issues on business of genetic testing in near future].

    Science.gov (United States)

    Takada, Fumio

    2009-06-01

    Since 1990's, a business condition that company sells genetic testing services directly to consumers without through medical facility, so called "direct-to-consumers (DTC) genetic testing", has risen. They provide genetic testing for obesity, disease susceptibility or paternity, etc. There are serious problems in this kind of business. Most of the providers do not make sales with face-to-face selling, and do through internet instead. They do not provide genetic counseling by certified genetic counselor or clinical geneticist. Most DTC genetic testing services for disease susceptibility or predispositions including obesity, lack scientific validity, clinical validity and clinical utility. And also including paternity genetic testing, they all have risks of ethical legal and social issues (ELSI) in genetic discrimination and/or eugenics. The specific problem in Japan is that the healthcare section of the government still has not paid attention and not taken seriously the requirement to deploy safety net.

  7. Turkish Medical Information System and Medical Librarianship

    Directory of Open Access Journals (Sweden)

    Huriye Çolaklar

    2010-01-01

    Full Text Available In Turkey, medical information is supported at state level according to national policies. However, although the history of medical libraries in Turkey goes back to the 13th century in Anatolia, modern medical library applications adopted since the 1950s have not received much state support. In the past thirteen years a few medical libraries joined forces under ÜNAK (the Association of University and Research Librarians to contribute to the organization and development of Turkish Medical Information through the establishment of a "Medical Working Group" in 2000.

  8. Does medical mystery threaten biotech

    Energy Technology Data Exchange (ETDEWEB)

    Raphals, P.

    1990-11-02

    A puzzling medical syndrome caused by substances grown in a genetically engineered bacterium could have profound consequences for the entire biotechnology industry-if Jeremy Rifkin has his way. Rifkin, the controversial biotech critic, has filed a petition based on the eosinophilia-myalgia syndrome (EMS) with the Food and Drug Administration. In it, he asks that the FDA's review of all products made by genetic engineering techniques be suspended until strict new rules are in place to protect the public. The problem is that no one yet knows whether the specific contaminant that has caused up to 5000 EMS cases and 27 deaths was actually the result of genetic engineering. It might well have been the result of problems with chemical purification steps that have little to do with molecular genetics. Until now there has been no way to resolve that uncertainty. But help is on the way-in the form of a recently published animal model of the disease that should eventually enable researchers to pinpoint the precise cause of the syndrome.

  9. Genetics Home Reference: vitiligo

    Science.gov (United States)

    ... physical functioning. However, concerns about appearance and ethnic identity are significant issues for many affected ... What information about a genetic condition can statistics provide? Why are some genetic ...

  10. Genetic Diagnosis through Whole-Exome Sequencing

    NARCIS (Netherlands)

    van der Zwaag, Paul A.; Jongbloed, Jan D. H.; van Tintelen, J. Peter

    2014-01-01

    To the Editor: Yang et al. (Oct. 17 issue)(1) report the application of whole-exome sequencing in 250 patients with a potentially genetic disease, which resulted in a molecular diagnosis in 25% of them. A total of 30 patients had medically actionable incidental findings in a total of 16 genes; 18 of

  11. Genetic Testing in Huntington’s Disease

    OpenAIRE

    J Gordon Millichap

    1997-01-01

    The historical and clinical profiles of Huntington’s disease (HD) presenting in 44 juveniles who were tested for CAG repeat expansions in the gene for HD were defined in a study reported by the US Huntington Disease Genetic Testing Group from the Hennepin County Medical Center, Minneapolis, MN.

  12. Genetic Testing for Huntington's Disease in Parkinsonism.

    Science.gov (United States)

    Rahman, M S; Nagai, Y; Popiel, H A; Fujikake, N; Okamoto, Y; Ahmed, M U; Islam, M A; Islam, M T; Ahmed, S; Rahman, K M; Uddin, M J; Dey, S K; Ahmed, Q; Hossain, M A; Jahan, N; Toda, T

    2010-10-01

    The study was conducted to find out Huntington's disease (HD) by genetic analysis from those presenting with parkinsonism in the Neurology department of Mymensingh Medical College & Hospital. A sample of about 5ml blood was collected by veni puncture in EDTA tube with informed consent from 9 patients & 7 healthy individuals after approval of the institutional ethics committee for genetic study. The neurological disorder along with a complete history and physical findings were recorded in a prescribed questionnaire by the neurologists of Mymensingh Medical College & Hospital. Extraction of genomic DNA from the venous blood using FlexiGene DNA kit (Qiagen, Japan) was performed in Faculty of Veterinary Science, Bangladesh Agricultural University, Mymensingh, Bangladesh. The extracted DNA was stored and accumulated and then these DNA were sent to Division of Clinical Genetics, Department of Medical Genetics, Osaka University Medical School, Suita, Osaka 565 0871, Japan for PCR and further analysis. PCR amplification of the CAG repeat in the 1T15 gene was performed with primers HD1 and HD3. HD PCR products revealed the DNA product of about 110bp (no. of CAG repeats=21) to 150bp (no. of CAG repeats=34) in both healthy individual and suspected PD patient DNA.

  13. Recorded interviews with human and medical geneticists.

    Science.gov (United States)

    Harper, Peter S

    2017-02-01

    A series of 100 recorded interviews with human and medical geneticists has been carried out and some general results are reported here. Twenty countries across the world are represented, mostly European, with a particular emphasis on the United Kingdom. A priority was given to older workers, many of whom were key founders of human genetics in their own countries and areas of work, and over 20 of whom are now no longer living. The interviews also give valuable information on the previous generation of workers, as teachers and mentors of the interviewees, thus extending the coverage of human genetics back to the 1930s or even earlier. A number of prominent themes emerge from the interview series; notably the beginnings of human cytogenetics from the late 1950s, the development of medical genetics research and its clinical applications in the 1960s and 1970s, and more recently the beginnings and rapid growth of human molecular genetics. The interviews provide vivid personal portraits of those involved, and also show the effects of social and political issues, notably those arising from World War 2 and its aftermath, which affected not only the individuals involved but also broader developments in human genetics, such as research related to risks of irradiation. While this series has made a start in the oral history of this important field, extension and further development of the work is urgently needed to give a fuller picture of how human genetics has developed.

  14. Parents’ experiences of receiving their child’s genetic diagnosis: A qualitative study to inform clinical genetics practice

    Science.gov (United States)

    Ashtiani, Setareh; Makela, Nancy; Carrion, Prescilla; Austin, Jehannine

    2014-01-01

    Purpose Little is currently known about how parents experience the medical genetics appointment at which their child receives a genetic diagnosis. Methods We conducted semi-structured in-person interviews with 13 parents of 10 index children to explore their experience in the medical genetics appointment in which they received their child’s genetic diagnosis. Guided by grounded theory, we used a constant comparative approach to data analysis, and the transcribed interviews were coded and sorted, and thematic categories identified. Results 61.5% of parents experienced the diagnosis session as negative, 23% felt the experience was positive, and 15.5% were ambivalent. Receiving emotional support, an outline of the follow-up plans, and messages of hope and perspective during the session seemed to positively influence parents’ experience, while feeling that their role was as a passive receiver of information and using difficult medical terminology negatively influenced parents’ overall experience. Parental preparedness for the information, and the parents’ emotional reaction to the diagnosis were also factors that influenced the parental experience. Few participants understood the role of the genetic counselor. Conclusion Our results provide in-depth insight into the parental experience of the pediatric medical genetics diagnosis session. We propose a mechanism through which parental experience shapes their perception of the medical genetics session. PMID:24706543

  15. Genetic aspects and genetic epidemiology of parasomnias.

    Science.gov (United States)

    Hublin, Christer; Kaprio, Jaakko

    2003-10-01

    Parasomnias are undesirable phenomena associated with sleep. Many of them run in families, and genetic factors have been long suggested to be involved in their occurrence. This article reviews the present knowledge of the genetics of the major classical behavioral parasomnias as well as present results from genetic epidemiological studies. The level and type of evidence for genetic effects varies much from parasomnia to parasomnia. The genetic factors are best established in enuresis, with several linkages to chromosomal loci, but their functions are not so far known. Environmental causes and gene-environment interactions are most probably also of great importance in the origin of complex traits or disorders such as parasomnias.

  16. Privacy and confidentiality measures in genetic testing and counselling: arguing on genetic exceptionalism again?

    Science.gov (United States)

    Witt, Magdalena M; Witt, Michał P

    2016-11-01

    Medical confidentiality in clinical genetics poses an important question about its scope, which would be in line with professional ethics and simple honesty. It is already known that the maintenance of absolute anonymity, bearing in mind the current progress of genetic techniques, is virtually impossible. On the other hand, our insight into the information contained in the human genome is increasing. This mini-review presents the authors' standpoint regarding this complex and difficult issue.

  17. Genetic Susceptibility to Rhodococcus equi.

    Science.gov (United States)

    McQueen, C M; Dindot, S V; Foster, M J; Cohen, N D

    2015-01-01

    Rhodococcus equi pneumonia is a major cause of morbidity and mortality in neonatal foals. Much effort has been made to identify preventative measures and new treatments for R. equi with limited success. With a growing focus in the medical community on understanding the genetic basis of disease susceptibility, investigators have begun to evaluate the interaction of the genetics of the foal with R. equi. This review describes past efforts to understand the genetic basis underlying R. equi susceptibility and tolerance. It also highlights the genetic technology available to study horses and describes the use of this technology in investigating R. equi. This review provides readers with a foundational understanding of candidate gene approaches, single nucleotide polymorphism-based, and copy number variant-based genome-wide association studies, and next generation sequencing (both DNA and RNA). Copyright © 2015 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.

  18. Genetic privacy: orthodoxy or oxymoron?

    Science.gov (United States)

    Sommerville, A; English, V

    1999-01-01

    In this paper we question whether the concept of "genetic privacy" is a contradiction in terms. And, if so, whether the implications of such a conclusion, inevitably impact on how society comes to perceive privacy and responsibility generally. Current law and ethical discourse place a high value on self-determination and the rights of individuals. In the medical sphere, the recognition of patient "rights" has resulted in health professionals being given clear duties of candour and frankness. Dilemmas arise, however, when patients decline to know relevant information or, knowing it, refuse to share it with others who may also need to know. This paper considers the notions of interconnectedness and responsibility to others which are brought to the fore in the genetic sphere and which challenge the primacy afforded to personal autonomy. It also explores the extent to which an individual's perceived moral obligations can or should be enforced. PMID:10226920

  19. Genetics of valvular heart disease.

    Science.gov (United States)

    LaHaye, Stephanie; Lincoln, Joy; Garg, Vidu

    2014-01-01

    Valvular heart disease is associated with significant morbidity and mortality and often the result of congenital malformations. However, the prevalence is increasing in adults not only because of the growing aging population, but also because of improvements in the medical and surgical care of children with congenital heart valve defects. The success of the Human Genome Project and major advances in genetic technologies, in combination with our increased understanding of heart valve development, has led to the discovery of numerous genetic contributors to heart valve disease. These have been uncovered using a variety of approaches including the examination of familial valve disease and genome-wide association studies to investigate sporadic cases. This review will discuss these findings and their implications in the treatment of valvular heart disease.

  20. Genetic screening services provided in Turkey.

    Science.gov (United States)

    Erdem, Yurdagül; Tekşen, Fulya

    2013-12-01

    In Turkey, the rate of consanguineous marriage is quite high (22-24 %) and as a result, the incidence of autosomal recessive diseases and congenital anomalies is also very high and gives rise to a serious public health problem. In the last three decades, great effort has been made to avoid increases in the prevalence of these hereditary diseases. For this purpose, population-based premarital, prenatal, neonatal and adult genetic screening programs are performed in various centers such as Community Health Centers, Early Diagnosis of Cancer and Education Centers (KETEM), Prenatal and Neonatal Departments of Universities and State Hospitals and Thalessemia Screening Centers. Such centers are staffed by health professionals including physicians, family physicians, nurses, midwives, biologists and medical geneticists. Genetic counseling is also provided to patients attending these centers after screening tests are performed. Since there are no specialized training programs for genetic counselors, genetic counseling is generally provided by doctors or medical geneticists. The aim of this paper is to give an overview of the genetic screening services provided in Turkey, the prevalence of genetic diseases and the design of intensive educational programs for health professionals.

  1. Genetic testing and sports medicine ethics.

    Science.gov (United States)

    McNamee, Michael John; Müller, Arno; van Hilvoorde, Ivo; Holm, Søren

    2009-01-01

    Sports medicine ethics is neither a well established branch of sports medicine nor of medical ethics. It is therefore important to raise to more general awareness some of the significant ethical implications of sports medicine practices. The field of genetics in sports is likewise in its infancy and raises significant ethical concerns. It is not yet clear how genetics will alter our understanding of human potential and performance in sports. While a number of professional medical bodies accept genetic interventions of a therapeutic nature, we argue that the use of genetic technologies to predict sports potential may well breach both the European bioethics convention and North American anti-discrimination legislation, which are designed to support important ethical ideals and the ongoing commitment of the physician to the welfare of their patient. We highlight further ethical problems associated with confidentiality and consent that may arise in genetic testing as opposed to more conventional methods of testing in sports medicine. We conclude that genetic testing in sport that is not strictly limited to the protection of the athlete against harm, should be viewed in a very sceptical light by sports medicine professionals.

  2. Medical ethics in the media.

    Science.gov (United States)

    Raman, Usha

    2009-01-01

    The mass media function both as reflector and a shaper of a society's attitudes and values and as such represent a forum within which one may understand and influence public opinion. While questions of medical ethics may be largely confined to academic and scientific spaces, their importance to society at large cannot be denied, and how issues of medical ethics play out--if at all--in the media could tell us how society understands and processes these questions. This paper uses the techniques of framing analysis and textual analysis to examine how the print media, represented by two major Indian newspapers, cover medical ethics. The study looked at all articles related to medical research over a three-month period (January-March 2007) and considered how the story was framed, what were the key threads followed, and the dominant themes focused on. The ethical frame is notable by its absence, even in articles related to controversial themes such as drug research and genetics. Discussion of ethics appears to be problematic given the adherence to traditional "news values" when covering science and medicine. The research community and the media need to pay more attention to explicitly focusing on ethics in their interactions.

  3. Medical alert bracelet (image)

    Science.gov (United States)

    People with diabetes should always wear a medical alert bracelet or necklace that emergency medical workers will be able to find. Medical identification products can help ensure proper treatment in an ...

  4. Implantable Medical Devices

    Science.gov (United States)

    ... Artery Disease Venous Thromboembolism Aortic Aneurysm More Implantable Medical Devices Updated:Sep 16,2016 For Rhythm Control ... a Heart Attack Introduction Medications Surgical Procedures Implantable Medical Devices • Life After a Heart Attack • Heart Attack ...

  5. When Medication Is Prescribed

    Science.gov (United States)

    ... page please turn Javascript on. Feature: Depression When Medication Is Prescribed Past Issues / Fall 2009 Table of ... you have about the medicine. —NIMH Types of Medications There are several types of medications used to ...

  6. Medication Use during Pregnancy

    Science.gov (United States)

    ... What's this? Submit Button Past Emails CDC Features Medication Use During Pregnancy Recommend on Facebook Tweet Share ... are taking only medications that are necessary. What Medications Can Cause Birth Defects? We know that taking ...

  7. Your Pet's Medications

    Science.gov (United States)

    ... Care Animal Welfare Veterinary Careers Public Health Your Pet's Medications When your pet has a medical condition, ... authorized. What you can do to keep your pet safe When the medication is prescribed Let your ...

  8. Genetics of presbycusis and presbystasis.

    Science.gov (United States)

    Ciorba, A; Hatzopoulos, S; Bianchini, C; Aimoni, C; Skarzynski, H; Skarzynski, P H

    2015-03-01

    Presbycusis and presbystasis represent relevant problems of aging, caused by the increase in life expectancy in developed countries. As such, it is advantageous to better understand the physiopathological mechanisms of these age-related inner ear diseases. The hypothesis that presbycusis and presbystasis have a genetic background was proposed some years ago. Several studies (in humans and animals) are available in the literature, and possible genes involved in the physiopathology of both diseases have been identified. The aim of this paper is to present an overview of the information available in the current medical literature on presbycusis and presbystasis.

  9. The genetics of immunity.

    Science.gov (United States)

    Lazzaro, Brian P; Schneider, David S

    2014-06-17

    In this commentary, Brian P. Lazzaro and David S. Schneider examine the topic of the Genetics of Immunity as explored in this month's issues of GENETICS and G3: Genes|Genomes|Genetics. These inaugural articles are part of a joint Genetics of Immunity collection (ongoing) in the GSA journals. Copyright © 2014 Lazzaro and Schneider.

  10. Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era

    Directory of Open Access Journals (Sweden)

    Costain G

    2012-02-01

    Full Text Available Gregory Costain1,2, Anne S Bassett1–41Clinical Genetics Research Program, Centre for Addiction and Mental Health, 2Institute of Medical Science, University of Toronto, 3Division of Cardiology, Department of Medicine and Department of Psychiatry, University Health Network, 4Department of Psychiatry, University of Toronto, Toronto, Ontario, CanadaAbstract: Schizophrenia is a complex neuropsychiatric disease with documented clinical and genetic heterogeneity, and evidence for neurodevelopmental origins. Driven by new genetic technologies and advances in molecular medicine, there has recently been concrete progress in understanding some of the specific genetic causes of this serious psychiatric illness. In particular, several large rare structural variants have been convincingly associated with schizophrenia, in targeted studies over two decades with respect to 22q11.2 microdeletions, and more recently in large-scale, genome-wide case-control studies. These advances promise to help many families afflicted with this disease. In this review, we critically appraise recent developments in the field of schizophrenia genetics through the lens of immediate clinical applicability. Much work remains in translating the recent surge of genetic research discoveries into the clinic. The epidemiology and basic genetic parameters (such as penetrance and expression of most genomic disorders associated with schizophrenia are not yet well characterized. To date, 22q11.2 deletion syndrome is the only established genetic subtype of schizophrenia of proven clinical relevance. We use this well-established association as a model to chart the pathway for translating emerging genetic discoveries into clinical practice. We also propose new directions for research involving general genetic risk prediction and counseling in schizophrenia.Keywords: schizophrenia, genetics, 22q11 deletion syndrome, copy number variation, genetic counseling, genetic predisposition to disease

  11. Cognitive Medical Multiagent Systems

    Directory of Open Access Journals (Sweden)

    Barna Iantovics

    2010-01-01

    Full Text Available The development of efficient and flexible agent-based medical diagnosis systems represents a recent research direction. Medical multiagent systems may improve the efficiency of traditionally developed medical computational systems, like the medical expert systems. In our previous researches, a novel cooperative medical diagnosis multiagent system called CMDS (Contract Net Based Medical Diagnosis System was proposed. CMDS system can solve flexibly a large variety of medical diagnosis problems. This paper analyses the increased intelligence of the CMDS system, which motivates its use for different medical problem’s solving.

  12. Medications (for IBS)

    Medline Plus

    Full Text Available ... Anthony J. Lembo, MD, Instructor of Medicine, Harvard Medical School; Division of Gastroenterology, Beth Israel Deaconess Medical Center, Boston, MA. Last modified on February 23, ...

  13. Medications (for IBS)

    Medline Plus

    Full Text Available ... Anthony J. Lembo, MD, Instructor of Medicine, Harvard Medical School; Division of Gastroenterology, Beth Israel Deaconess Medical Center, Boston, MA. Last modified on February 23, ...

  14. MEDICAL ETHICS COURSE IMPROVES MEDICAL PROFESSIONALISM: MEDICAL STUDENTS´ OPINIONS

    Directory of Open Access Journals (Sweden)

    Abdolreza Sotoodeh Jahromi

    2014-01-01

    Full Text Available Training physicians who are expert in many medical aspects is the most improtant mission of medical universities. One of these aspects, is professional behavior achievement. One of the important goals in training of ethics, is recognition of conflicts in different parts of ethics and having logical viewpoint for resolving and analyzing these conflicts. This descriptive and analytical study was done to evaluate the efficacy of medical ethics education in medical students´ professional attitudes improvement. One hundred and two medical students were selected randomly in different steps of education and were questioned and their opinions correlation with stage of education and gender were evaluated. There was a significant difference between female viewpoint (in roles of ethic course which is presented in preclinical step in professional attitude improvement (P = 0.009 and also a significant difference was seen in the viewpoint score between student stage with intern stage (P = 0.031. Medical students in educational student stage believe ethic course improve medical professionalism. Since there is no special course to train medical students in professionalism, some interventions are required in this field to improve this aspect of physicians' professional life.

  15. Genetic Engineering Workshop Report, 2010

    Energy Technology Data Exchange (ETDEWEB)

    Allen, J; Slezak, T

    2010-11-03

    The Lawrence Livermore National Laboratory (LLNL) Bioinformatics group has recently taken on a role in DTRA's Transformation Medical Technologies (TMT) program. The high-level goal of TMT is to accelerate the development of broad-spectrum countermeasures. To achieve this goal, there is a need to assess the genetic engineering (GE) approaches, potential application as well as detection and mitigation strategies. LLNL was tasked to coordinate a workshop to determine the scope of investments that DTRA should make to stay current with the rapid advances in genetic engineering technologies, so that accidental or malicious uses of GE technologies could be adequately detected and characterized. Attachment A is an earlier report produced by LLNL for TMT that provides some relevant background on Genetic Engineering detection. A workshop was held on September 23-24, 2010 in Springfield, Virginia. It was attended by a total of 55 people (see Attachment B). Twenty four (44%) of the attendees were academic researchers involved in GE or bioinformatics technology, 6 (11%) were from DTRA or the TMT program management, 7 (13%) were current TMT performers (including Jonathan Allen and Tom Slezak of LLNL who hosted the workshop), 11 (20%) were from other Federal agencies, and 7 (13%) were from industries that are involved in genetic engineering. Several attendees could be placed in multiple categories. There were 26 attendees (47%) who were from out of the DC area and received travel assistance through Invitational Travel Orders (ITOs). We note that this workshop could not have been as successful without the ability to invite experts from outside of the Beltway region. This workshop was an unclassified discussion of the science behind current genetic engineering capabilities. US citizenship was not required for attendance. While this may have limited some discussions concerning risk, we felt that it was more important for this first workshop to focus on the scientific state of

  16. Medical Informatics For Medical Students And Medical Practitioners

    Directory of Open Access Journals (Sweden)

    Jai MOHAN

    2010-06-01

    Full Text Available The importance of incorporating medical (or healthinformatics into the education of medical students andmedical practitioners is being increasingly recognised.The advances in information and communicationtechnology and the pervasion of the Internet intoeveryday life have important implications forhealthcare services and medical education.Students and practitioners should learn to utilisebiomedical information for problem solving anddecision making based on evidence. The extensiveintroduction of electronic health information systemsinto hospitals and clinics and at the enterprise level inMalaysia and elsewhere is driving a demand for healthprofessionals who have at least basic skills in andappreciation of the use of these technologies.The essential clinical informatics skills have beenidentified and should be incorporated into theundergraduate medical curriculum. It is recommendedthat these be introduced in stages and integrated intoexisting programmes rather than taught as a separatemodule. At the same time, medical schools shouldsupport the integration of e-learning in the educationalprocess in view of the numerous potential benefits.

  17. The genetic background of Southern Iranian couples before marriage

    Science.gov (United States)

    Nariman, A; Sobhan, MR; Savaei, M; Aref-Eshghi, E; Nourinejad, R; Manoochehri, M; Ghahremani, S; Daliri, F

    2016-01-01

    Abstract Genetic service for couples plays an increasingly important role in diagnosis and risk management. This study investigated the status of consanguinity and the medical genetic history (effectiveness and coverage of medical genetic services) in couples residing in a city in southern Iran. We questioned couples who were referred to Behbahan Marital Counseling Center, Behbahan, Iran, during the period from January to November 2014, to obtain information on consanguinity, disease history, and previous referral to a medical genetics center. For the collected data was obtained descriptive statistics with STATA 11.0 software. A total of 500 couples were questioned. Mean age was 24.8 ± 5.2 years. Almost one quarter (23.4%) of the couples were consanguineous. Consanguinity was almost twice as common in rural areas as in urban areas (33.9 vs. 19.2%, p = 0.001). Only a few couples (~3.0%) had ever been referred for genetic counseling. The main reason for previous genetic counseling was consanguinity (85.7%). The majority of the participants (96.3%) had never been tested for any genetic conditions. Our findings suggest that only a small proportion of couples in Khuzestan Province, Iran (Behbahan City) were receiving adequate genetics care. This may reflect the limited accessibility of such services, and inadequate awareness and education among the care providers. PMID:28289591

  18. CONTEMPORARY APPROACH TO DIAGNOSIS OF GENETIC CAUSES OF INTELLECTUAL DISABILITY

    Directory of Open Access Journals (Sweden)

    Ana PETERLIN

    2016-09-01

    Full Text Available Intellectual disability is a lifelong debilitating developmental disorder with important genetic contribution, which remains challenging to investigate due to high clinical and genetic variability. Finding the etiologic diagnosis of ID, however comes with great benefits for patients and their families, therefore establishing a genetic diagnostic pathway with right combination and succession of diagnostic tools is crucial for both prevention and appropriate treatment and/or rehabilitation of patients with ID. New diagnostic tools in genetics such as array comparative genomic hybridization (aCGH and next-generation sequencing (NGS have much higher detection rate for genetic aberrations responsible for ID and have enormous potential to shorten the path to diagnosis, as early diagnosis is a cornerstone for medical and non-medical management of persons suffering from ID.

  19. STS-3 medical report

    Science.gov (United States)

    Pool, S. L. (Editor); Johnson, P. C., Jr. (Editor); Mason, J. A. (Editor)

    1982-01-01

    The medical operations report for STS-3, which includes a review of the health of the crew before, during, and immediately after the third Shuttle orbital flight is presented. Areas reviewed include: health evaluation, medical debriefing of crewmembers, health stabilization program, medical training, medical 'kit' carried in flight, tests and countermeasures for space motion sickness, cardiovascular profile, biochemistry and endocrinology results, hematology and immunology analyses, medical microbiology, food and nutrition, potable water, shuttle toxicology, radiological health, and cabin acoustic noise. Environmental effects of shuttle launch and landing medical information management, and management, planning, and implementation of the medical program are also dicussed.

  20. The Applications of Genetic Algorithms in Medicine

    Directory of Open Access Journals (Sweden)

    Ali Ghaheri

    2015-11-01

    Full Text Available A great wealth of information is hidden amid medical research data that in some cases cannot be easily analyzed, if at all, using classical statistical methods. Inspired by nature, metaheuristic algorithms have been developed to offer optimal or near-optimal solutions to complex data analysis and decision-making tasks in a reasonable time. Due to their powerful features, metaheuristic algorithms have frequently been used in other fields of sciences. In medicine, however, the use of these algorithms are not known by physicians who may well benefit by applying them to solve complex medical problems. Therefore, in this paper, we introduce the genetic algorithm and its applications in medicine. The use of the genetic algorithm has promising implications in various medical specialties including radiology, radiotherapy, oncology, pediatrics, cardiology, endocrinology, surgery, obstetrics and gynecology, pulmonology, infectious diseases, orthopedics, rehabilitation medicine, neurology, pharmacotherapy, and health care management. This review introduces the applications of the genetic algorithm in disease screening, diagnosis, treatment planning, pharmacovigilance, prognosis, and health care management, and enables physicians to envision possible applications of this metaheuristic method in their medical career.

  1. The Applications of Genetic Algorithms in Medicine

    Science.gov (United States)

    Ghaheri, Ali; Shoar, Saeed; Naderan, Mohammad; Hoseini, Sayed Shahabuddin

    2015-01-01

    A great wealth of information is hidden amid medical research data that in some cases cannot be easily analyzed, if at all, using classical statistical methods. Inspired by nature, metaheuristic algorithms have been developed to offer optimal or near-optimal solutions to complex data analysis and decision-making tasks in a reasonable time. Due to their powerful features, metaheuristic algorithms have frequently been used in other fields of sciences. In medicine, however, the use of these algorithms are not known by physicians who may well benefit by applying them to solve complex medical problems. Therefore, in this paper, we introduce the genetic algorithm and its applications in medicine. The use of the genetic algorithm has promising implications in various medical specialties including radiology, radiotherapy, oncology, pediatrics, cardiology, endocrinology, surgery, obstetrics and gynecology, pulmonology, infectious diseases, orthopedics, rehabilitation medicine, neurology, pharmacotherapy, and health care management. This review introduces the applications of the genetic algorithm in disease screening, diagnosis, treatment planning, pharmacovigilance, prognosis, and health care management, and enables physicians to envision possible applications of this metaheuristic method in their medical career.] PMID:26676060

  2. Machine medical ethics

    CERN Document Server

    Pontier, Matthijs

    2015-01-01

    The essays in this book, written by researchers from both humanities and sciences, describe various theoretical and experimental approaches to adding medical ethics to a machine in medical settings. Medical machines are in close proximity with human beings, and getting closer: with patients who are in vulnerable states of health, who have disabilities of various kinds, with the very young or very old, and with medical professionals. In such contexts, machines are undertaking important medical tasks that require emotional sensitivity, knowledge of medical codes, human dignity, and privacy. As machine technology advances, ethical concerns become more urgent: should medical machines be programmed to follow a code of medical ethics? What theory or theories should constrain medical machine conduct? What design features are required? Should machines share responsibility with humans for the ethical consequences of medical actions? How ought clinical relationships involving machines to be modeled? Is a capacity for e...

  3. Improved genetic testing: a new impetus toward universal coverage.

    Science.gov (United States)

    Sureka, A

    2000-01-01

    As the Human Genome Project increases the predictive power of human genetics, emerging gene chip technology and other advances of genetic testing will give more information to people about their genetic predilections. If insurance companies were allowed to use this information, they would set premiums such that many who need life-saving medical treatment would have no access to it. Americans would not accept this disparity; instead, genetic information will likely remain private, making the modern health insurance system unprofitable for companies and thus pushing the United States towards a universal health care system in the near future.

  4. Outcomes of genetics services: creating an inclusive definition and outcomes menu for public health and clinical genetics services.

    Science.gov (United States)

    Silvey, Kerry; Stock, Jacquie; Hasegawa, Lianne E; Au, Sylvia Mann

    2009-08-15

    Third party payers, funding agencies, and lawmakers often require clinicians and public health agencies to justify programs and services by documenting results. This article describes two assessment tools--"Defining Genetics Services Framework" and "Genetics Services Outcomes Menu," created to assist public health professionals, clinicians, family advocates, and researchers to plan, evaluate, and demonstrate the effectiveness of genetics services. The tools were developed by a work group of the Western States Genetics Services Collaborative (WSGSC) consisting of public health genetics and newborn screening professionals, family representatives, a medical geneticist, and genetic counselors from Alaska, California, Hawaii, Idaho, Oregon, and Washington. The work group created both tools by an iterative process of combining their ideas with findings from a literature and World Wide Web review. The Defining Genetics Services Framework reflects the diversity of work group members. Three over-lapping areas of genetics services from public health core functions to population screening to clinical genetics services are depicted. The Genetics Services Outcomes Menu lists sample long-term outcomes of genetics services. Menu outcomes are classified under impact areas of Knowledge and Information; Financing; Screening and Identification; Diagnosis, Treatment, and Management; and Population Health. The WSGSC incorporated aspects of both tools into their Regional Genetics Plan. 2009 Wiley-Liss, Inc.

  5. [The role of the medical geneticist in the pediatric consultation].

    Science.gov (United States)

    Araujo-Solís, María Antonieta de Jesús; Huicochea-Montiel, Juan Carlos; Vázquez-Estupiñán, Felipe

    2014-01-01

    The work of the medical geneticist is, from the clinical point of view, scarcely known. His healthcare-related activity requires close collaboration with specialists in different fields; hence, it is vital for the physician directly in charge of the patient to have at hand some useful recommendations in order to make care provided by the multidisciplinary team efficient and timely. The purpose of this paper is to outline some of the professional features of medical genetics specialists and to describe, in general terms, the work in clinical genetics, as well as to inform first contact clinicians - especially pediatricians - about the clinical and imaging studies they should order for patients with the most common congenital conditions before referring them for diagnostic or genetic counseling. It is important to point out that the communication process between the treating clinician and his/her patients (which in pediatric patients is with the family) is essential not only with regard to the reason for referral to the medical genetics department, but also for the family to be able to obtain information prior to the appointment, so that time and quality of care are improved once the genetics consultation takes place. Finally, this manuscript outlines the requirements for the communication between specialists, in order for them to promote and provide knowledge on medical genetics at all levels of care, for the benefit of patients.

  6. Genetics Home Reference

    Science.gov (United States)

    Skip Navigation Bar Home Current Issue Past Issues Genetics Home Reference Past Issues / Spring 2007 Table of ... of this page please turn Javascript on. The Genetics Home Reference (GHR) Web site — ghr.nlm.nih. ...

  7. Genetics of Hearing Loss

    Science.gov (United States)

    ... in Latin America Information For... Media Policy Makers Genetics of Hearing Loss Language: English Español (Spanish) Recommend ... of hearing loss in babies is due to genetic causes. There are also a number of things ...

  8. Frontotemporal Dementia: Genetics

    Science.gov (United States)

    ... Calendar of Events Fundraising Events Conferences Press Releases Genetics of FTD After receiving a diagnosis of FTD ... that recent advances in science have brought the genetics of FTD into much better focus. In 2012, ...

  9. Genetic Disease Foundation

    Science.gov (United States)

    ... mission to help prevent, manage and treat inherited genetic diseases. View our latest News Brief here . You can ... contributions to the diagnosis, prevention and treatment of genetic diseases. Learn how advances at Mount Sinai have impacted ...

  10. Genetic Brain Disorders

    Science.gov (United States)

    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form ... mutation is a change in a gene. Genetic brain disorders affect the development and function of the ...

  11. Software For Genetic Algorithms

    Science.gov (United States)

    Wang, Lui; Bayer, Steve E.

    1992-01-01

    SPLICER computer program is genetic-algorithm software tool used to solve search and optimization problems. Provides underlying framework and structure for building genetic-algorithm application program. Written in Think C.

  12. Genetics Home Reference

    Science.gov (United States)

    ... changes Browse A–Z Chromosomes & mtDNA Autosomes, sex chromosomes, and mitochondrial DNA (mtDNA) Browse Help Me Understand Genetics Learn about the basics of human genetics Browse New & Updated Pages New Pages Omenn ...

  13. Genetically engineered foods

    Science.gov (United States)

    Bioengineered foods; GMOs; Genetically modified foods ... helps speed up the process of creating new foods with desired traits. The possible benefits of genetic engineering include: More nutritious food Tastier food Disease- and ...

  14. Genetics of Parkinson's disease

    National Research Council Canada - National Science Library

    Klein, Christine; Westenberger, Ana

    2012-01-01

    Fifteen years of genetic research in Parkinson's disease (PD) have led to the identification of several monogenic forms of the disorder and of numerous genetic risk factors increasing the risk to develop PD...

  15. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we...... examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection...... with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were...

  16. Genetics Home Reference: hyperprolinemia

    Science.gov (United States)

    ... can also occur with other conditions, such as malnutrition or liver disease. In particular, individuals with conditions ... Topic: Amino Acid Metabolism Disorders Health Topic: Genetic Brain Disorders Health Topic: Newborn Screening Genetic and Rare ...

  17. Genetics Home Reference: hypermethioninemia

    Science.gov (United States)

    ... C. Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. Hum Genet. ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  18. Medical Physics Panel Discussion

    Science.gov (United States)

    Guèye, Paul; Avery, Steven; Baird, Richard; Soares, Christopher; Amols, Howard; Tripuraneni, Prabhakar; Majewski, Stan; Weisenberger, Drew

    2006-03-01

    The panel discussion will explore opportunities and vistas in medical physics research and practice, medical imaging, teaching medical physics to undergraduates, and medical physics curricula as a recruiting tool for physics departments. Panel members consist of representatives from NSBP (Paul Guèye and Steven Avery), NIH/NIBIB (Richard Baird), NIST (Christopher Soares), AAPM (Howard Amols), ASTRO (Prabhakar Tripuraneni), and Jefferson Lab (Stan Majewski and Drew Weisenberger). Medical Physicists are part of Departments of Radiation Oncology at hospitals and medical centers. The field of medical physics includes radiation therapy physics, medical diagnostic and imaging physics, nuclear medicine physics, and medical radiation safety. It also ranges from basic researcher (at college institutions, industries, and laboratories) to applications in clinical environments.

  19. Teaching Medical Sociology in Medical Schools.

    Science.gov (United States)

    Hunt, Gerard J.; Sobal, Jeffery

    1990-01-01

    Provides 11 teaching guidelines for presentation of sociological material to medical students and addresses the problems of dense scheduling and competition for time in a medical school curriculum. Considers career implications for sociologists in this setting as well as resources available. (NL)

  20. Behavioral genetics and taste

    Directory of Open Access Journals (Sweden)

    Bachmanov Alexander A

    2007-09-01

    Full Text Available Abstract This review focuses on behavioral genetic studies of sweet, umami, bitter and salt taste responses in mammals. Studies involving mouse inbred strain comparisons and genetic analyses, and their impact on elucidation of taste receptors and transduction mechanisms are discussed. Finally, the effect of genetic variation in taste responsiveness on complex traits such as drug intake is considered. Recent advances in development of genomic resources make behavioral genetics a powerful approach for understanding mechanisms of taste.

  1. Matching Medical Websites to Medical Guidelines

    Directory of Open Access Journals (Sweden)

    Dusan Rak

    2016-01-01

    Full Text Available The quality of medical texts provided to general public on the Internet is a serious issue nowadays. Unfortunately the only feasible way to approve the adequacy of the medical information content is human verification today. Best practices in medicine are systematically captured by medical guidelines (MGLs, which are provided by renowned medical societies. We propose a simple approach to exploiting MGL content as ’gold standard’ for the assessment of content quality in medical web sites (WS, based on the idea that the information content is reflected in the domain terminology used. Concept candidates discovered in a MGL and in the tested web pages are matched to the UMLS terminological system. In a small case study, MGLs and WSs have been analyzed for similarity at term and concept level. The research is a step towards automated evaluation of WS content on the basis of MGLs as the quality standard.

  2. Statistics for Learning Genetics

    Science.gov (United States)

    Charles, Abigail Sheena

    2012-01-01

    This study investigated the knowledge and skills that biology students may need to help them understand statistics/mathematics as it applies to genetics. The data are based on analyses of current representative genetics texts, practicing genetics professors' perspectives, and more directly, students' perceptions of, and performance in, doing…

  3. Report: Human cancer genetics

    Institute of Scientific and Technical Information of China (English)

    LI Marilyn; ALBERTSON Donna

    2006-01-01

    The short report will be focused on the genetic basis and possible mechanisms of tumorigenesis, common types of cancer, the importance of genetic diagnosis of cancer, and the methodology of cancer genetic diagnosis. They will also review presymptomatic testing of hereditary cancers, and the application of expression profiling to identify patients likely to benefit from particular therapeutic approaches.

  4. Prenatal screening and genetics

    NARCIS (Netherlands)

    Alderson, P.; Aro, A.R.; Dragonas, T.; Ettorre, E.; Hemminki, E.; Jalinoja, P.; Santalahti, P.; Tijmstra, T.

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we

  5. Human cancer genetics*

    OpenAIRE

    2006-01-01

    The short report will be focused on the genetic basis and possible mechanisms of tumorigenesis, common types of cancer, the importance of genetic diagnosis of cancer, and the methodology of cancer genetic diagnosis. They will also review presymptomatic testing of hereditary cancers, and the application of expression profiling to identify patients likely to benefit from particular therapeutic approaches.

  6. Statistics for Learning Genetics

    Science.gov (United States)

    Charles, Abigail Sheena

    2012-01-01

    This study investigated the knowledge and skills that biology students may need to help them understand statistics/mathematics as it applies to genetics. The data are based on analyses of current representative genetics texts, practicing genetics professors' perspectives, and more directly, students' perceptions of, and performance in, doing…

  7. Prenatal screening and genetics

    NARCIS (Netherlands)

    Alderson, P.; Aro, A.R.; Dragonas, T.; Ettorre, E.; Hemminki, E.; Jalinoja, P.; Santalahti, P.; Tijmstra, T.

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we exami

  8. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we ex...

  9. GENETICS AND GENOMICS OF PLANT GENETIC RESOURCES

    Directory of Open Access Journals (Sweden)

    Börner A.

    2012-08-01

    Full Text Available Plant genetic resources play a major role for global food security. The most significant and widespread mean of conserving plant genetic resources is ex situ conservation. Most conserved accessions are kept in specialized facilities known as genebanks maintained by public or private institutions. World-wide 7.4 million accessions are stored in about 1,500 ex situ genebanks.In addition, series of genetic stocks including chromosome substitution lines, alloplasmic lines, single chromosome recombinant lines, introgression lines, etc. have been created. Analysing these genetic stocks many qualitative and quantitative inherited traits were associated to certain chromosomes, chromosome arms or introgressed segments. Today, genetic stocks are supplemented by a huge number of genotyped mapping populations. Beside progenies of bi-parental crosses (doubled haploid lines, recombinant inbred lines, etc. panels for association mapping were created recently.In our presentation we give examples for the successful utilisation of genebank accessions and genetic stocks for genetic and genomic studies. Using both segregation and association mapping approaches, data on mapping of loci/marker trait associations for a range of different traits are presented.

  10. Basic concepts of medical genetics, Pathogenetics, Part 4: Anti ...

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2013-03-15

    Mar 15, 2013 ... The peculiar structural organization of the human genome rep- resents the first innate ... for the synthesis of protein and of regulatory small RNA spe- cies, the human ... Page 2 ... synthesis, the DNA polymerases, most of them have additional ... (NER), direct reversal repair, mismatch repair, transcription-.

  11. Basic concepts of medical genetics, pathogenetics, part 3

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2013-01-30

    Jan 30, 2013 ... deficient synthesis of gene products, synthesis of defective gene products or .... trafficking. h. Deficient/defective production of cellular energy: ... Obviously, the balance between the pathological effects of mutation and the ...

  12. Simulation based virtual learning environment in medical genetics counseling

    DEFF Research Database (Denmark)

    Makransky, Guido; Bonde, Mads T.; Wulff, Julie S. G.

    2016-01-01

    that they would feel more confident counseling a patient after the simulation. CONCLUSIONS: The simulation based learning environment increased students' learning, intrinsic motivation, and self-efficacy (although the strength of these effects differed depending on their pre-test knowledge), and increased...

  13. STS-1 medical report

    Science.gov (United States)

    Pool, S. L. (Editor); Johnson, P. C., Jr. (Editor); Mason, J. A. (Editor)

    1981-01-01

    The report includes a review of the health of the crew before, during and immediately after the first Shuttle orbital flight (April 12-14, 1981). Areas reviewed include: health evaluation, medical debriefing of crewmembers, health stabilization program, medical training, medical kit carried inflight; tests and countermeasures for space motion sickness, cardiovascular profile, biochemistry and endocrinology results; hematology and immunology analyses; medical microbiology; food and nutrition; potable water; shuttle toxicology; radiological health; cabin acoustical noise. Also included is information on: environmental effects of Shuttle launch and landing, medical information management; and management, planning and implementation of the medical program.

  14. Medical spa marketing.

    Science.gov (United States)

    Sadick, Neil S; Dinkes, Adam; Oskin, Larry

    2008-07-01

    Medical spas are different. We are not just selling medical and dermatology services; we are offering clients viable new solutions to their skin care, body care, and hair care challenges. Traditional medical marketing becomes blurred today, as the expansion and acceptance of medical spas helps you to effectively compete with traditional skin care clinics, salons, and spas, while offering more therapeutic treatments from professionally licensed doctors, nurses, aestheticians, massage therapists, spa professionals, and medical practitioners. We recommend that you make the choice to successfully and competitively become a market-driven medical spa with an annual strategic plan, rather than an operationally driven business.

  15. [From genetics to law, the viewpoint of the physician].

    Science.gov (United States)

    Kahn, Axel

    2002-05-25

    OF ALL SCIENCES: Genetics, science of the transmission of hereditary characteristics, is probably that which interferes most with the Law. However, it was not genetics that provoked the ideological, social and political upheaval at the end of the 19th and during the 20th century; it was the theory of evolution, which preceded the discovery of genetics that was to provide the substratum of evolution mechanisms. Most of the lethal ideologies of the 20th century were based on this. As was the case of eugenics, with the participation of scientists, legislators and judges. GENETIC ENGINEERING: The logical application of the theory of evolution and universality of the genetic code, led to the development of the genome program. Today, sequencing of the human genome is almost finished, but many years will be needed before details of the physiological genetic manifestations will be known. Genes themselves would not generally be concerned by patenting rules. However, there is an international tendency towards envisaging the patenting of genes. DEVELOPMENT OF GENETIC TESTS AND THEIR INCREASING USE FOR MEDICAL PURPOSES: Are among the ethical problems raised by genetics. Genetic diagnosis, conducted before embryo transfer is called "pre-implantation". This raises the problem of an eventual pre-implantation eugenic selection and therefore requires strict control. Reinforcement of the right to knowledge of genetic origins is also one of the socio-legal problems raised by the progress in genetics.

  16. The risks of absolute medical confidentiality.

    Science.gov (United States)

    Crook, M A

    2013-03-01

    Some ethicists argue that patient confidentiality is absolute and thus should never be broken. I examine these arguments that when critically scrutinised, become porous. I will explore the concept of patient confidentiality and argue that although, this is a very important medical and bioethical issue, this needs to be wisely delivered to reduce third party harm or even detriment to the patient. The argument for absolute confidentiality is particularly weak when it comes to genetic information and inherited disease.

  17. 美国医学遗传学会对基因芯片拷贝数变异结果解读指南%American College of Medical Genetics Standards and Guidelines for Interpretation and Reporting of Postnatal Constitutional Copy Number Variants

    Institute of Scientific and Technical Information of China (English)

    吴畏(译); 刘嘉茵(译)

    2014-01-01

    全基因组芯片已被推荐作为分析智力障碍、孤独症、多发性出生缺陷病因的首要筛查手段,通过芯片检查发现了人类基因组中大量的拷贝数变异(copy number variation,CNV),这些变异中既有正常个体的多态性,也有新发的致病性变异。为帮助临床实验室对芯片结果的解读保持一致性,美国医学遗传学会制定了此有关CNV的解读指南。该指南主要应用于产后的分子遗传诊断中。%Genomic microarrays used to assess DNA copy number are now recommended as first-tier tests for the postnatal evaluation of individuals with intellectual disability,autism spectrum disorders,and/or multiple congenital anomalies. Application of this technology has resulted in the discovery of widespread copy number variation in the human genome,both polymorphic variation in healthy individuals and novel pathogenic copy number imbalances. To assist clinical laboratories in the evaluation of copy number variants and to promote consistency in interpretation and reporting of genomic microarray results,the American College of Medical Genetics has developed the following professional guidelines for the interpretation and reporting of copy number variation. These guidelines apply primarily to evaluation of constitutional copy number variants detected in the postnatal setting.

  18. Massively Parallel Genetics.

    Science.gov (United States)

    Shendure, Jay; Fields, Stanley

    2016-06-01

    Human genetics has historically depended on the identification of individuals whose natural genetic variation underlies an observable trait or disease risk. Here we argue that new technologies now augment this historical approach by allowing the use of massively parallel assays in model systems to measure the functional effects of genetic variation in many human genes. These studies will help establish the disease risk of both observed and potential genetic variants and to overcome the problem of "variants of uncertain significance." Copyright © 2016 by the Genetics Society of America.

  19. Primer on genetic counseling.

    Science.gov (United States)

    Hahn, Susan Estabrooks

    2011-04-01

    Once limited to rare mendelian disorders, genetic counseling is playing an ever-increasing role in the multidisciplinary approach to predicting, diagnosing, and managing neurologic disease. However, genetic counseling services may not be optimized because of lack of availability and lack of knowledge regarding when it is appropriate to refer, what occurs in genetic counseling, and how genetic counseling can affect care. These issues are addressed in this article, along with corresponding clinical scenarios. Websites to find genetic counseling services and resources are also provided.

  20. Obesity in childhood and adolescence, genetic factors.

    Science.gov (United States)

    Memedi, Rexhep; Tasic, Velibor; Nikolic, Erieta; Jancevska, Aleksandra; Gucev, Zoran

    2013-01-01

    Obesity and overweight are a pandemic phenomenon in the modern world. Childhood and adolescent obesity often ends up in obesity in adults. The costs of obesity and its consequences are staggering for any society, crippling for countries in development. The etiology is complex, but most often idiopathic. Hormonal, syndromic and medication-induced obesity are well investigated. Genetic causes are increasingly described. Novel technologies such as whole exome sequencing identify ever more candidate genes influencing or causing obesity. All insights into the complex problem of obesity in a team approach to treatment: diet, psychology, medications and surgery. We briefly review epidemiology, etiology, consequences and treatment approaches in childhood and adolescent obesity, with special emphasis on emerging knowledge of its genetics.

  1. Genetic basis of stroke: An overview

    Directory of Open Access Journals (Sweden)

    Munshi Anjana

    2010-01-01

    Full Text Available Stroke or "brain attack" is a complex disease caused by a combination of multiple risk factors. It has major social and economic consequences. Various epidemiological studies in families and twins have revealed that there is a genetic component to stroke risk. Stroke may be the outcome of single gene disorders or more commonly, a polygenic multifactorial disease. Mutations in several candidate genes have been found to be associated with stroke. However, association studies in population-based samples have failed to identify reliable disease markers. The publication of the "Human Genome Project" has indeed improved our knowledge about the potential role of genetics in complex disorders including stroke. Rapidly expanding field of genetics is in a state of transforming medicine into a new kind in future, the individualized medicine, using tailor made drugs according to the genetic makeup of the individuals. However, this involves integrating genome wide genetic information with medical information. The first genome wide association study on ischemic stroke has been published recently. Further studies will hopefully tell us how far the genetic information will assist us to tailor clinical and therapeutic decisions to an individual′s genotype.

  2. Culture and genetic screening in Africa.

    Science.gov (United States)

    Jegede, Ayodele S

    2009-12-01

    Africa is a continent in transition amidst a revival of cultural practices. Over previous years the continent was robbed of the benefits of medical advances by unfounded cultural practices surrounding its cultural heritage. In a fast moving field like genetic screening, discussions of social and policy aspects frequently need to take place at an early stage to avoid the dilemma encountered by Western medicine. This paper, examines the potential challenges to genetic screening in Africa. It discusses how cultural practices may affect genetic screening. It views genomics science as a culture which is trying to diffuse into another one. It argues that understanding the existing culture will help the diffusion process. The paper emphasizes the importance of genetic screening for Africa, by assessing the current level of burden of diseases in the continent and shows its role in reducing disease prevalence. The paper identifies and discusses the cultural challenges that are likely to confront genetic screening on the continent, such as the worldview, rituals and taboos, polygyny, culture of son preference and so on. It also discusses cultural practices that may promote the science such as inheritance practices, spouse selection practices and naming patterns. Factors driving the cultural challenges are identified and discussed, such as socialization process, patriarchy, gender, belief system and so on. Finally, the paper discusses the way forward and highlights the ethical considerations of doing genetic screening on the continent. However, the paper also recognizes that African culture is not monolithic and therefore makes a case for exceptions.

  3. How Is Genetic Testing Done?

    Science.gov (United States)

    ... Testing How is genetic testing done? How is genetic testing done? Once a person decides to proceed with ... is called informed consent . For more information about genetic testing procedures: The National Society of Genetic Counselors offers ...

  4. The Double Helix: Applying an Ethic of Care to the Duty to Warn Genetic Relatives of Genetic Information.

    Science.gov (United States)

    Weaver, Meaghann

    2016-03-01

    Genetic testing reveals information about a patient's health status and predictions about the patient's future wellness, while also potentially disclosing health information relevant to other family members. With the increasing availability and affordability of genetic testing and the integration of genetics into mainstream medicine, the importance of clarifying the scope of confidentiality and the rules regarding disclosure of genetic findings to genetic relatives is prime. The United Nations International Declaration on Human Genetic Data urges an appreciation for principles of equality, justice, solidarity and responsibility in the context of genetic testing, including a commitment to honoring the privacy and security of the person tested. Considering this global mandate and recent professional statements in the context of a legal amendment to patient privacy policies in Australia, a fresh scrutiny of the legal history of a physician's duty to warn is warranted. This article inquiries whether there may be anything ethically or socially amiss with a potential future recommendation for health professionals or patients to universally disclose particular cancer predisposition genetic diagnosis to genetic family members. While much of the discussion remains applicable to all genetic diagnosis, the article focuses on the practice of disclosure within the context of BRCA1/2 diagnosis. An 'ethic of care' interpretation of legal tradition and current practice will serve to reconcile law and medical policy on the issue of physician disclosure of genetic results to family members without patient consent. © 2015 John Wiley & Sons Ltd.

  5. Medications (for IBS)

    Medline Plus

    Full Text Available ... be readily available over-the-counter, in a pharmacy or grocery store, or limited by prescription only. ... J. Lembo, MD, Instructor of Medicine, Harvard Medical School; Division of Gastroenterology, Beth Israel Deaconess Medical Center, ...

  6. Medications (for IBS)

    Science.gov (United States)

    ... be readily available over-the-counter, in a pharmacy or grocery store, or limited by prescription only. ... J. Lembo, MD, Instructor of Medicine, Harvard Medical School; Division of Gastroenterology, Beth Israel Deaconess Medical Center, ...

  7. Medications for Memory Loss

    Science.gov (United States)

    ... by state Home > Alzheimer's Disease > Treatments > Medications for Memory Overview What Is Dementia? What Is Alzheimer's? Younger/ ... Interactive Tour Risk Factors Diagnosis Treatments Medications for Memory Treatments for Behavior For Sleep Changes Alternative Treatments ...

  8. American Medical Association

    Science.gov (United States)

    ... AMA provides to help members save money. Residency & Career Planning Find out resources for a range of medical ... clinical questions using our reference tool View the Career Planning Resource Refinance your medical student loans Find leadership ...

  9. Choosing Your Medical Specialty

    Science.gov (United States)

    ... AMA provides to help members save money. Residency & Career Planning Find resources for a range of medical career ... Fellowships Back to top Home Life & Career Residency & Career Planning Choosing a Medical Specialty Back to top Choosing ...

  10. Tanzania Medical Journal

    African Journals Online (AJOL)

    The journal publishes any contribution that advances medical science or ... these core objectives the journal publishes papers on original scientific research, short ... The Tanzania Medical Journal is an international Journal - ISSN: 0856-0719 ...

  11. HIV Medication Adherence

    Science.gov (United States)

    HIV Treatment HIV Medication Adherence (Last updated 3/2/2017; last reviewed 3/2/2017) Key Points Medication adherence means sticking ... exactly as prescribed. Why is adherence to an HIV regimen important? Adherence to an HIV regimen gives ...

  12. Medical Device Safety

    Science.gov (United States)

    A medical device is any product used to diagnose, cure, or treat a condition, or to prevent disease. They ... may need one in a hospital. To use medical devices safely Know how your device works. Keep ...

  13. Medical Treatments for Fibroids

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Medical Treatments for Fibroids Skip sharing on social media ... Page Content Your health care provider may suggest medical treatments to reduce the symptoms of fibroids or ...

  14. Medical Computational Thinking

    DEFF Research Database (Denmark)

    Musaeus, Peter; Tatar, Deborah Gail; Rosen, Michael A.

    2017-01-01

    Computational thinking (CT) in medicine means deliberating when to pursue computer-mediated solutions to medical problems and evaluating when such solutions are worth pursuing in order to assist in medical decision making. Teaching computational thinking (CT) at medical school should be aligned...... with learning objectives, teaching and assessment methods, and overall pedagogical mission of the individual medical school in relation to society. Medical CT as part of the medical curriculum could help educate novices (medical students and physicians in training) in the analysis and design of complex...... healthcare organizations, which increasingly rely on computer technology. Such teaching should engage novices in information practices where they learn to perceive practices of computer technology as directly involved in the provision of patient care. However, medical CT as a teaching and research field...

  15. Medications (for IBS)

    Medline Plus

    Full Text Available ... by a physician who specializes in motility or stress-related gastrointestinal disorders. More complex medication regimens, and ... IBS Medications Probiotics and Antibiotics Psychological Treatments Understanding Stress Cognitive Behavioral Therapy Relaxation Techniques for IBS Take ...

  16. Medications (for IBS)

    Medline Plus

    Full Text Available ... Diet Complimentary or Alt Treatments Medications Psychological Treatments Online Studies News You Can Use Living With IBS ... Diet Complimentary or Alt Treatments Medications Psychological Treatments Online Studies News You Can Use Living With IBS ...

  17. Medical Care during Pregnancy

    Science.gov (United States)

    ... 1- to 2-Year-Old Medical Care During Pregnancy KidsHealth > For Parents > Medical Care During Pregnancy Print ... both moms and their babies. Prenatal Care Before Pregnancy Prenatal care should start before you get pregnant. ...

  18. Polymyositis: Medical Management

    Science.gov (United States)

    ... email share facebook twitter google plus linkedin Medical Management Polymyositis (PM) is a highly treatable disease. Some ... PM) Signs and Symptoms Diagnosis Causes/Inheritance Medical Management Research Find your MDA Care Center Current Clinical ...

  19. Medical Care during Pregnancy

    Science.gov (United States)

    ... 1- to 2-Year-Old Medical Care During Pregnancy KidsHealth > For Parents > Medical Care During Pregnancy A ... both moms and their babies. Prenatal Care Before Pregnancy Prenatal care should start before you get pregnant. ...

  20. Medications (for IBS)

    Medline Plus

    Full Text Available ... depression, but rather likely to effects on the brain and the gut. Antidepressant medications can reduce the intensity of pain signals going from gut to brain. Read more about antidepressant medications. Newer IBS-Targeted ...

  1. Medications (for IBS)

    Medline Plus

    Full Text Available ... atropine (Lomotil) Read more about antidiarrheal agents. Anti-anxiety medications – can be helpful for some people with ... who specializes in motility or stress-related gastrointestinal disorders. More complex medication regimens, and specialized motility and/ ...

  2. Medications (for IBS)

    Science.gov (United States)

    ... IBS Pain IBS Global Treatments IBS Diet Low FODMAP Diet Complimentary or Alt Treatments Medications Psychological Treatments ... IBS Pain IBS Global Treatments IBS Diet Low FODMAP Diet Complimentary or Alt Treatments Medications Psychological Treatments ...

  3. Medications (for IBS)

    Medline Plus

    Full Text Available ... Treatments Medications Psychological Treatments Online Studies News You Can Use Living With IBS Relationships and IBS Pregnancy ... Treatments Medications Psychological Treatments Online Studies News You Can Use Living With IBS Relationships and IBS Pregnancy ...

  4. Medications: Myths Versus Facts

    Science.gov (United States)

    ... are good, but they should never replace the statins.” Dr. Fletcher said. Natural supplements are better than ... medication . Many include stimulants that can have an adverse reaction with blood pressure medication, Dr. Fletcher said. “ ...

  5. Medications (for IBS)

    Medline Plus

    Full Text Available ... depression, but rather likely to effects on the brain and the gut. Antidepressant medications can reduce the intensity of pain signals going from gut to brain. Read more about antidepressant medications. Newer IBS-Targeted ...

  6. Medications (for IBS)

    Medline Plus

    Full Text Available ... Month IBS Awareness Month Tips of the Day Art of IBS Gallery Contact Us About IBS Twitter ... Month IBS Awareness Month Tips of the Day Art of IBS Gallery Contact Us Medications Details Medications ...

  7. Understanding Medical Research

    Science.gov (United States)

    ... you hear about the results of a new medical research study. Sometimes the results of one study ... when reading or listening to reports of new medical findings. Some questions that can help you evaluate ...

  8. Medications (for IBS)

    Medline Plus

    Full Text Available ... to physician counseling and dietary manipulations. What's a medication? Anything you take for a therapeutic effect counts ... the drug package or on your prescription label. Medications for IBS First line treatment has traditionally been ...

  9. Giving Medication to Children

    Science.gov (United States)

    ... For Consumers Home For Consumers Consumer Updates Giving Medication to Children Share Tweet Linkedin Pin it More ... the upper limit. back to top Q: Are medications that are intended for children clinically tested on ...

  10. Medications (for IBS)

    Medline Plus

    Full Text Available ... Month IBS Awareness Month Tips of the Day Art of IBS Gallery Contact Us About IBS Twitter ... Month IBS Awareness Month Tips of the Day Art of IBS Gallery Contact Us Medications Details Medications ...

  11. BPA genetic monitoring - BPA Genetic Monitoring Project

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Initiated in 1989, this study monitors genetic changes associated with hatchery propagation in multiple Snake River sub-basins for Chinook salmon and steelhead. We...

  12. Molecular genetics made simple

    Directory of Open Access Journals (Sweden)

    Heba Sh. Kassem

    2012-07-01

    Full Text Available Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better targeted treatments. The exponential growth of our understanding of different genetic concepts is paralleled by a growing list of genetic terminology that can easily intimidate the unfamiliar reader. Rendering genetics incomprehensible to the clinician however, defeats the very essence of genetic research: its utilization for combating disease and improving quality of life. Herein we attempt to correct this notion by presenting the basic genetic concepts along with their usefulness in the cardiology clinic. Bringing genetics closer to the clinician will enable its harmonious incorporation into clinical care, thus not only restoring our perception of its simple and elegant nature, but importantly ensuring the maximal benefit for our patients.

  13. Genetic interest assessment

    Science.gov (United States)

    Doughney, Erin

    Genetics is becoming increasingly integrated into peoples' lives. Different measures have been taken to try and better genetics education. This thesis examined undergraduate students at the University of North Texas not majoring in the life sciences interest in genetic concepts through the means of a Likert style survey. ANOVA analysis showed there was variation amongst the interest level in different genetic concepts. In addition age and lecture were also analyzed as contributing factors to students' interest. Both age and lecture were evaluated to see if they contributed to the interest of students in genetic concepts and neither showed statistical significance. The Genetic Interest Assessment (GIA) serves to help mediate the gap between genetic curriculum and students' interest.

  14. Rewriting the Genetic Code.

    Science.gov (United States)

    Mukai, Takahito; Lajoie, Marc J; Englert, Markus; Söll, Dieter

    2017-09-08

    The genetic code-the language used by cells to translate their genomes into proteins that perform many cellular functions-is highly conserved throughout natural life. Rewriting the genetic code could lead to new biological functions such as expanding protein chemistries with noncanonical amino acids (ncAAs) and genetically isolating synthetic organisms from natural organisms and viruses. It has long been possible to transiently produce proteins bearing ncAAs, but stabilizing an expanded genetic code for sustained function in vivo requires an integrated approach: creating recoded genomes and introducing new translation machinery that function together without compromising viability or clashing with endogenous pathways. In this review, we discuss design considerations and technologies for expanding the genetic code. The knowledge obtained by rewriting the genetic code will deepen our understanding of how genomes are designed and how the canonical genetic code evolved.

  15. [Perspectives in medical liability].

    Science.gov (United States)

    Pizarro W, Carlos

    2008-04-01

    The progressive increase of medical negligence law suits requires an updated analysis of the current situation of medical liability in Chile. The application of a new criminal procedure will avoid criminal prosecution of doctors, transferring to the civil courts the pecuniary sanctions for malpractice. Medical negligence and damage inflicted by doctors that require compensation are explained. The most likely evolution of medical liability is proposed, through an increase in civil liability insurance and the necessary standardization of rules applicable to professional liability.

  16. Advanced Medication Dispenser

    OpenAIRE

    2013-01-01

    Medication dispensing is an important activity that can have major implications if done improperly. Dispensing must be done in the correct time interval, at the correct user, with the correct drug and dose. We propose a smart medication dispenser that can satisfy these needs and provide a mechanism for supervision. In order to ensure that the dispensing process is error free, the concept of a new smart medication container is used. A smart medication container is “smart” ...

  17. [Historiography of medical objects].

    Science.gov (United States)

    Cid, Felip

    2008-01-01

    It has become acceptable among historians of medicine to profess a predilection for the historiography of medical ideas. But it is justified all the same to ask whether the logical connection really caused the origin, the change, or the disappearance of the medical objects. The interaction of ideas and medical objects assure as much objectivity as possible. In consequence, the contents of the museums, medical objects, is an aspect rather that a branch of the history of medicine.

  18. Implantable electronic medical devices

    CERN Document Server

    Fitzpatrick, Dennis

    2014-01-01

    Implantable Electronic Medical Devices provides a thorough review of the application of implantable devices, illustrating the techniques currently being used together with overviews of the latest commercially available medical devices. This book provides an overview of the design of medical devices and is a reference on existing medical devices. The book groups devices with similar functionality into distinct chapters, looking at the latest design ideas and techniques in each area, including retinal implants, glucose biosensors, cochlear implants, pacemakers, electrical stimulation t

  19. Cryptogenic Polyneuropathy : Clinical, Environmental, And Genetic Studies

    OpenAIRE

    Lindh, Jonas

    2011-01-01

    Objectives: The purpose of this medical thesis was to describe the clinical and neurophysiological features and to evaluate the health related quality of life (HR-QoL) in patients with cryptogenic polyneuropathy. We also wanted to investigate different occupational, and leisure time exposures as determinants for cryptogenic polyneuropathy, and to analyze whether polymorphisms for the null alleles of Glutathione S-Transferase Mu-1 (GSTM1), and Theta-1 (GSTT1), and a low activity genetic variat...

  20. Asexual reproduction: genetics and evolutionary aspects.

    Science.gov (United States)

    de Meeûs, T; Prugnolle, F; Agnew, P

    2007-06-01

    Reproduction is essential to all organisms if they are to contribute to the next generation. There are various means and ways of achieving this goal. This review focuses on the role of asexual reproduction for eukaryotic organisms and how its integration in a life cycle can influence their population genetics and evolution. An important question for evolutionary biologists as to why some organisms reproduce sexually, as opposed to asexually, is addressed. We also discuss the economic and medical importance of asexual organisms.

  1. Genetics and epigenetics of eating disorders

    OpenAIRE

    Yilmaz Z; Hardaway JA; Bulik CM

    2015-01-01

    Zeynep Yilmaz,1 J Andrew Hardaway,1 Cynthia M Bulik1–3 1Department of Psychiatry, 2Department of Nutrition, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA; 3Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden Abstract: Eating disorders (EDs) are serious psychiatric conditions influenced by biological, psychological, and sociocultural factors. A better understanding of the genetics of these complex traits and the developm...

  2. Environmental and genetical factors in airway allergies

    OpenAIRE

    Katarzyna Idzik

    2012-01-01

    It is estimated that approximately 23% of the European population is clinically diagnosed with allergies. In the past three decades, an increase in the incidence of respiratory allergies was noted. At the beginning of the 20th century allergic inflammations affected only around 1% of the world population. Medical symptoms of allergic airway inflammation are variable for different patients. Airways allergy are complex phenotypes, which are determined by both genetic and...

  3. LEGAL ASPECTS OF DIRECT-TO-CONSUMER GENETIC TESTS.

    Directory of Open Access Journals (Sweden)

    Mariela Yaneva – Deliverska

    2011-06-01

    Full Text Available Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. Most of the time, testing is used to find changes that are associated with inherited disorders. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. The main difference between direct-to-consumer genetic testing and the standard genetic testing is the way informational support is provided in internet offers of testing. Counselling may be offered as an additional special service at extra costs and at the customer's request. It may also be that a recommendation or at least an offer is given for the customer to contact a doctor or health practitioner from the company via phone for counselling.In a liberal society the fundamental individual rights can be considered to include access to medical treatment and diagnostics that may be helpful for improving one's health condition or that can help an individual make decisions regarding life style and health. At the European level, there are no binding legal regulations that specifically apply for genetic testing. In some European counties, national laws, require a responsible medical person to be involved before a genetic test is provided. The Convention on Human Rights and Biomedicine was adopted by the Committee of Ministers on 19 November 1996, while an Additional Protocol to the Convention, concerning Genetic Testing for Health Purposes, was adopted by the Committee of Ministers on 7 May 2008.Direct-to-consumer genetic testing is closely watched by the community of medical genetics and counsellors, and the EU funded Eurogentest Network of Excellence.In 2010, the European Society of Human Genetics has releaseda statement on direct-to-consumer gene testing for health-related purposes. The European Society of Human Genetics is concerned about the way in which commercial companies are

  4. Medical Physics Data Book,

    Science.gov (United States)

    The Medical Physics Data Book is a collection of physical and chemical data useful in medical physics . The information has been extracted from other...ionizing Radiation. Carried out by the Medical Physics Data Group of the American Association of Physicists in Medicine, this compilation is meant to

  5. Your Medical Records

    Science.gov (United States)

    ... Surgery? A Week of Healthy Breakfasts Shyness Your Medical Records KidsHealth > For Teens > Your Medical Records A ... Records? en español Tus historias clínicas What Are Medical Records? Each time you climb up on a ...

  6. Mission Medical Information System

    Science.gov (United States)

    Johnson-Throop, Kathy A.; Joe, John C.; Follansbee, Nicole M.

    2008-01-01

    This viewgraph presentation gives an overview of the Mission Medical Information System (MMIS). The topics include: 1) What is MMIS?; 2) MMIS Goals; 3) Terrestrial Health Information Technology Vision; 4) NASA Health Information Technology Needs; 5) Mission Medical Information System Components; 6) Electronic Medical Record; 7) Longitudinal Study of Astronaut Health (LSAH); 8) Methods; and 9) Data Submission Agreement (example).

  7. MANAGEMENT OF MEDICAL SERVICES

    Directory of Open Access Journals (Sweden)

    BARBU MARIA-MAGDALENA

    2009-05-01

    Full Text Available The offer of medical services depends on medical personnel and more than this, on the management in the medical field since any resource not managed well or not managed at all is only a lost one, regardless its value. Management is therefore the key, the

  8. Marijuana: Modern Medical Chimaera

    Science.gov (United States)

    Lamarine, Roland J.

    2012-01-01

    Marijuana has been used medically since antiquity. In recent years there has been a resurgence of interest in medical applications of various cannabis preparations. These drugs have been cited in the medical literature as potential secondary treatment agents for severe pain, muscle spasticity, anorexia, nausea, sleep disturbances, and numerous…

  9. Medical Issues in Adoption

    Science.gov (United States)

    ... Teaching Kids to Be Smart About Social Media Medical Issues in Adoption KidsHealth > For Parents > Medical Issues in Adoption Print A A A What's ... some things to know about the health and medical care of an adopted child, before, during, and ...

  10. Conducting the Medical History

    Science.gov (United States)

    Finkel, Martin A.; Alexander, Randell A.

    2011-01-01

    A key portion of the medical evaluation of child sexual abuse is the medical history. This differs from interviews or histories obtained by other professionals in that it is focuses more on the health and well-being of the child. Careful questions should be asked about all aspects of the child's medical history by a skilled, compassionate,…

  11. Medical Assisting Program Guide.

    Science.gov (United States)

    Georgia Univ., Athens. Dept. of Vocational Education.

    This guide presents the standard curriculum for technical institutes in Georgia. The curriculum addresses the minimum competencies for a medical assisting program. The program guide is designed to relate primarily to the development of those skills needed by individuals in the medical assisting field, such as medical law and ethics, typing,…

  12. Marijuana: Modern Medical Chimaera

    Science.gov (United States)

    Lamarine, Roland J.

    2012-01-01

    Marijuana has been used medically since antiquity. In recent years there has been a resurgence of interest in medical applications of various cannabis preparations. These drugs have been cited in the medical literature as potential secondary treatment agents for severe pain, muscle spasticity, anorexia, nausea, sleep disturbances, and numerous…

  13. Genetic testing of the general population: ethical and informatic concerns.

    Science.gov (United States)

    Smith, K

    2000-01-01

    Whether we like it or not, genetic testing will almost certainly become routine medical practice within the next 25 years. Integrated circuit chips already exist that can perform 400 genetic tests simultaneously, thus greatly reducing the costs. At least one company is already working on a prototype for a handheld genetic tester that would allow primary care physicians to perform hundreds or thousands of genetic tests on a simple blood smear in just a few minutes. "Genetic report cards" for children are not very far off at all. The use of such widespread testing poses a variety of ethical dilemmas. One problem that has not been appreciated sufficiently, however, is the question of how to interpret the test results. Because of the ways the genes implicated in diseases are discovered and marketed, quantitative analysis of the tests can be extremely misleading. The difficulty is that we simply do not have sufficient information about variance in genetic and other factors in the general population to make accurate projections of a patient's risk, given the presence of a gene. This uncertainty is obscured, however, when we provide the patient with a numerical analysis of risk because it is well established that people tend to overestimate the information content of numerical projections. This situation is made far worse by the fact that we do not have enough adequately trained genetic counselors to handle the load that will soon be placed on them (and studies have shown that physicians are generally very poorly prepared to act as accurate sources of information on complex genetic issues). For these reasons, I argue that access to genetic testing should be treated the same way as access to new medical procedures and medications--namely, withheld from the general public until proven safe and effective in large-scale trials. This is certain to be an unpopular policy, but it seems the only way to prevent a great deal of abuse of genetic tests.

  14. Genetic counseling training in the Philippines.

    Science.gov (United States)

    Laurino, Mercy Ygona; Padilla, Carmencita David

    2013-12-01

    The recently established Master of Science in Genetic Counseling (MSGC) program serves a vital role in implementing and expanding genetic counseling services in the Philippines. Currently, only eight clinical geneticists practice in the Philippines, a country of approximately 94 million people, which yields a clinical-geneticist-to-population-density ratio of 1:11,750,000. The MSGC program was created to train health care providers to become crucial members of medical genetics teams being formed to meet increasing patient and healthcare provider demands. In 2011, the Board of Regents approved our proposed curriculum at the Department of Pediatrics College of Medicine, University of the Philippines Manila. As we relate how the Philippines began its efforts to implement the program and attempted to overcome the challenges the program faced, we hope we can provide an example to those interested in creating a similar MSGC program in other low-income and middle-income countries.

  15. GENETIC-BASED NUTRITION RECOMMENDATION MODEL

    Directory of Open Access Journals (Sweden)

    S. A.A. Fayoumi

    2014-01-01

    Full Text Available Evolutionary computing is the collective name for a range of problem-solving techniques based on principles of biological evolution, such as natural selection and genetic inheritance. These techniques are being widely applied to a variety of problems in many vital fields. Also, Evolutionary Algorithms (EA which applied the principles of Evolutionary computations, such as genetic algorithm, particle swarm, ant colony and bees algorithm and so on play an important role in decision making process. EAs serve a lot of fields which can affect our life directly, such as medicine, engineering, transportations, communications. One of these vital fields is Nutrition which can be viewed from several points of view as medical, physical, social, environmental and psychological point of view. This study, presents a proposed model that shows how evolutionary computing generally and genetic algorithm specifically-as a powerful algorithm of evolutionary algorithms-can be used to recommend an appropriate nutrition style in a medical and physical sides only to each person according to his/her personal and medical measurements.

  16. Medical marijuana: Medical necessity versus political agenda

    OpenAIRE

    Clark, Peter A.; Capuzzi, Kevin; Fick, Cameron

    2011-01-01

    Summary Marijuana is classified by the Drug Enforcement Agency (DEA) as an illegal Schedule I drug which has no accepted medical use. However, recent studies have shown that medical marijuana is effective in controlling chronic non-cancer pain, alleviating nausea and vomiting associated with chemotherapy, treating wasting syndrome associated with AIDS, and controlling muscle spasms due to multiple sclerosis. These studies state that the alleviating benefits of marijuana outweigh the negative ...

  17. Molecular Population Genetics

    Science.gov (United States)

    Casillas, Sònia; Barbadilla, Antonio

    2017-01-01

    Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics. During this period, molecular population genetics has been revolutionized by progress in data acquisition and theoretical developments. The conceptual elegance of the neutral theory of molecular evolution or the footprint carved by natural selection on the patterns of genetic variation are two examples of the vast number of inspiring findings of population genetics research. Since the inception of the field, Drosophila has been the prominent model species: molecular variation in populations was first described in Drosophila and most of the population genetics hypotheses were tested in Drosophila species. In this review, we describe the main concepts, methods, and landmarks of molecular population genetics, using the Drosophila model as a reference. We describe the different genetic data sets made available by advances in molecular technologies, and the theoretical developments fostered by these data. Finally, we review the results and new insights provided by the population genomics approach, and conclude by enumerating challenges and new lines of inquiry posed by increasingly large population scale sequence data. PMID:28270526

  18. Molecular Population Genetics.

    Science.gov (United States)

    Casillas, Sònia; Barbadilla, Antonio

    2017-03-01

    Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics. During this period, molecular population genetics has been revolutionized by progress in data acquisition and theoretical developments. The conceptual elegance of the neutral theory of molecular evolution or the footprint carved by natural selection on the patterns of genetic variation are two examples of the vast number of inspiring findings of population genetics research. Since the inception of the field, Drosophila has been the prominent model species: molecular variation in populations was first described in Drosophila and most of the population genetics hypotheses were tested in Drosophila species. In this review, we describe the main concepts, methods, and landmarks of molecular population genetics, using the Drosophila model as a reference. We describe the different genetic data sets made available by advances in molecular technologies, and the theoretical developments fostered by these data. Finally, we review the results and new insights provided by the population genomics approach, and conclude by enumerating challenges and new lines of inquiry posed by increasingly large population scale sequence data. Copyright © 2017 Casillas and Barbadilla.

  19. The utilization of counseling skills by the laboratory genetic counselor.

    Science.gov (United States)

    Goodenberger, McKinsey L; Thomas, Brittany C; Wain, Karen E

    2015-02-01

    The number of available genetic testing options and the nuances associated with these options continue to expand. In addition, the scope of genetic testing has broadened to areas and specialties beyond Medical Genetics. In response to these changes, diagnostic laboratories have employed genetic counselors to help navigate the increasing complexity of genetic testing, given their expertise and training in human genetics. However a largely unrecognized aspect of this role involves the use of counseling skills. Counseling skills are used by laboratory genetic counselors in a variety of situations to convey information and facilitate understanding among clinicians and medical staff. This helps to reduce test ordering errors, promote optimal test utilization, and ensure best patient care practices. The specific counseling skills used by laboratory counselors will be explored using three fictional case vignettes, followed by a discussion of the applicability of these skills in other contexts. Exploration of the unique ways in which laboratory genetic counselors apply their counseling skills can be useful for professional development and instructive for graduate training programs.

  20. East African Medical Journal

    African Journals Online (AJOL)

    2007-06-06

    Jun 6, 2007 ... These include lipid fractions, disease states, genetics and environmental ... myocardial energy metabolism, intracellular calcium ... and beam balance scale. ..... Systemic hypertension, obesity and hyperlipidaemia are.

  1. [Research in medical education

    DEFF Research Database (Denmark)

    Ringsted, Charlotte Vibeke

    2008-01-01

    of articles on medical education studies indicate a need for improvement of the quality of medical education research in order to contribute to the advancement of educational practice as well as educational research. In particular, there is a need to embed studies in a conceptual theoretical framework......Research in medical education is a relatively new discipline. Over the past 30 years, the discipline has experienced a tremendous growth, which is reflected in an increase in the number of publications in both medical education journals and medical science journals. However, recent reviews...

  2. Advanced Medication Dispenser

    Directory of Open Access Journals (Sweden)

    A.I. Alexan

    2013-12-01

    Full Text Available Medication dispensing is an important activity that can have major implications if done improperly. Dispensing must be done in the correct time interval, at the correct user, with the correct drug and dose. We propose a smart medication dispenser that can satisfy these needs and provide a mechanism for supervision. In order to ensure that the dispensing process is error free, the concept of a new smart medication container is used. A smart medication container is “smart” as it holds the medication dispensing parameters for the drugs it contains: dispensing time and date and name. Based on this information, the actual dispensing is done.

  3. [Research in medical education

    DEFF Research Database (Denmark)

    Ringsted, Charlotte Vibeke

    2008-01-01

    Research in medical education is a relatively new discipline. Over the past 30 years, the discipline has experienced a tremendous growth, which is reflected in an increase in the number of publications in both medical education journals and medical science journals. However, recent reviews...... of articles on medical education studies indicate a need for improvement of the quality of medical education research in order to contribute to the advancement of educational practice as well as educational research. In particular, there is a need to embed studies in a conceptual theoretical framework...

  4. A cloud solution for medical image processing

    Directory of Open Access Journals (Sweden)

    Ali Mirarab,

    2014-07-01

    Full Text Available The rapid growth in the use of Electronic Health Records across the globe along with the rich mix of multimedia held within an EHR combined with the increasing level of detail due to advances in diagnostic medical imaging means increasing amounts of data can be stored for each patient. Also lack of image processing and analysis tools for handling the large image datasets has compromised researchers and practitioner‟s outcome. Migrating medical imaging applications and data to the Cloud can allow healthcare organizations to realize significant cost savings relating to hardware, software, buildings, power and staff, in addition to greater scalability, higher performance and resilience. This paper reviews medical image processing and its challenges, states cloud computing and cloud computing benefits due to medical image processing. Also, this paper introduces tools and methods for medical images processing using the cloud. Finally a method is provided for medical images processing based on Eucalyptus cloud infrastructure with image processing software “ImageJ” and using improved genetic algorithm for the allocation and distribution of resources. Based on conducted simulations and experimental results, the proposed method brings high scalability, simplicity, flexibility and fully customizability in addition to 40% cost reduction and twice increase in speed.

  5. In-Flight Personalized Medication Management

    Science.gov (United States)

    Peletskaya, E.; Griko, Y. V.

    2016-01-01

    Current medication selection for treatment of astronauts during spaceflight missions is primarily dictated by the task of efficiently treating the widest possible range of physiological conditions and illnesses with a limited set of medications. Dosage and recommendations on the combination of drugs are based on the assumption of genetically equal drug sensitivity and unchanged metabolism. To our knowledge, there was no pre-flight drug sensitivity testing on a genetic level for any of the previous manned NASA space missions. Although many of the common, binary drug-drug interactions are, most likely, already considered in the ISS Medical kit composition, multi-drug and multi-drug-gene factors are not incorporated in the medication selection or prescription. Furthermore, due to the physiological changes occurring in microgravity environments, astronauts might be susceptible to potential increased drug toxicity as a result of decreased clearance of numerous drugs. In particular, perturbation of CYP450 enzymes which contribute to the hepatic metabolism of the majority of drugs may have significant effects on therapeutic efficacy and increase treatment-related toxicity5. The genes encoding the CYP450 enzymes are highly variable in humans. Inheritable variations of CYP450 hepatic metabolizer enzymes and transport proteins play a crucial role in the inter-individual variability of drug efficiency and risks of adverse drug reactions5. Additionally, there are some reports that document changes in the levels of production of drug-metabolizing enzymes in microgravity. These data can be extrapolated to provide reasonable assumptions of decreased levels of expression for most CYP450 enzymes in human body during prolonged space travel. If the prescribed medication regiment is not fully effective or causes undesirable side effects, the ability of the astronauts to function and maintain peak performance levels during space flight could be seriously compromised. Therefore

  6. [Unravelling medical leadership].

    Science.gov (United States)

    Voogt, Judith J; van Rensen, Elizabeth L J; Noordegraaf, Mirko; Schneider, Margriet M E

    2015-01-01

    Medical leadership is a popular topic in the Netherlands, and several interest groups now incorporate medical leadership into postgraduate medical education. However, there is no consensus on what this concept entails. By conducting a discourse analysis, a qualitative method which uses language and text to reveal existing viewpoints, this article reveals three perspectives on medical leadership: administrative leadership, leadership within organisations and leadership within each doctor's daily practice. Text analysis shows that the first two perspectives refer to medical leadership mainly in a defensive manner: by demonstrating medical leadership doctors could 'take the lead' once again; patient care only seems to play a small part in the process. These perspectives are not free of consequences, they will determine how the medical profession is constructed. For this reason, it is argued that there should be more emphasis on the third perspective, in which the quality of care for patients is of primary importance.

  7. Technologies for Medical Sciences

    CERN Document Server

    Tavares, João; Barbosa, Marcos; Slade, AP

    2012-01-01

    This book presents novel and advanced technologies for medical sciences in order to solidify knowledge in the related fields and define their key stakeholders.   The fifteen papers included in this book were written by invited experts of international stature and address important technologies for medical sciences, including: computational modeling and simulation, image processing and analysis, medical imaging, human motion and posture, tissue engineering, design and development medical devices, and mechanic biology. Different applications are treated in such diverse fields as biomechanical studies, prosthesis and orthosis, medical diagnosis, sport, and virtual reality.   This book is of interest to researchers, students and manufacturers from  a wide range of disciplines related to bioengineering, biomechanics, computational mechanics, computational vision, human motion, mathematics, medical devices, medical image, medicine and physics.

  8. Personalized medicine: genetic diagnosis for inherited cardiomyopathies/channelopathies.

    Science.gov (United States)

    Ackerman, Michael J; Marcou, Cherisse A; Tester, David J

    2013-04-01

    Major advances in the field of molecular genetics have expanded our ability to identify genetic substrates underlying the pathogenesis of various disorders that follow Mendelian inheritance patterns. Included among these disorders are the potentially lethal and heritable channelopathies and cardiomyopathies for which the underlying genetic basis has been identified and is now better understood. Clinical and genetic heterogeneity are hallmark features of these disorders, with thousands of gene mutations being implicated within these divergent cardiovascular diseases. Genetic testing for several of these heritable channelopathies and cardiomyopathies has matured from discovery to research-based genetic testing to clinically/commercially available diagnostic tests. The purpose of this review is to provide the reader with a basic understanding of human medical genetics and genetic testing in the context of cardiovascular diseases of the heart. We review the state of clinical genetic testing for the more common channelopathies and cardiomyopathies, discuss some of the pertinent issues that arise from genetic testing, and discuss the future of personalized medicine in cardiovascular disease. Copyright © 2013 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.

  9. Genetic Counselors’ Current Use of Personal Health Records-Based Family Histories in Genetic Clinics and Considerations for Their Future Adoption

    OpenAIRE

    Widmer, Chaney; DeShazo, Jonathan P.; Bodurtha, Joann; Quillin, John; Creswick, Heather

    2012-01-01

    Given the widespread adoption of electronic medical records and recent emergence of electronic family history tools, we examined genetic counselors’ perspectives on the emerging technology of the personal health record (PHR)-based family history tool that links to an electronic medical record (EMR). Two-hundred thirty-three genetic counselors responded to an on-line survey eliciting current use of electronic family history (EFH) tools and familiarity with PHR-based family history tools. Addit...

  10. Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors.

    Science.gov (United States)

    Bennett, Robin L; Motulsky, Arno G; Bittles, Alan; Hudgins, Louanne; Uhrich, Stefanie; Doyle, Debra Lochner; Silvey, Kerry; Scott, C Ronald; Cheng, Edith; McGillivray, Barbara; Steiner, Robert D; Olson, Debra

    2002-04-01

    The objective of this document is to provide recommendations for genetic counseling and screening for consanguineous couples (related as second cousins or closer) and their offspring with the goals of1. providing preconception reproductive options2. improving pregnancy outcome and identifying reproductive choices3. reducing morbidity and mortality in the 1st years of life, and4. respecting psychosocial and multicultural issues.The recommendations are the opinions of a multicenter working group (the Consanguinity Working Group (CWG)) with expertise in genetic counseling, medical genetics, biochemical genetics, genetic epidemiology, pediatrics, perinatology, and public health genetics, which was convened by the National Society of Genetic Counselors (NSGC). The consensus of the CWG and NSGC reviewers is that beyond a thorough medical family history with follow-up of significant findings, no additional preconception screening is recommended for consanguineous couples. Consanguineous couples should be offered similar genetic screening as suggested for any couple of their ethnic group. During pregnancy, consanguineous couples should be offered maternal-fetal serum marker screening and high-resolution fetal ultrasonography. Newborns should be screened for impaired hearing and detection of treatable inborn errors of metabolism. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.

  11. [Current situation and ethical-social issues of pediatric genetic testing].

    Science.gov (United States)

    Yamamoto, Toshiyuki

    2015-11-01

    Many pediatric neurological disorders are caused by genetic factors. Therefore, genetic testing is often required for final diagnosis, prognosis prediction, and genetic counseling. Prior to performing genetic research, pediatric neurologists must obtain the approval of the Institutional Review Board. Moreover, according to the "Ethical Guidelines for Human Genome/Gene Analysis Research," anonymity of patient samples must be maintained. Although the guideline for genetic research are not generally applied for genetic testing in routine bedside medical care, the guideline adopted by the Japan Medical Association must be followed, because genetic information from a personal genome is patient-specific. Pediatric neurologists must also be aware of the policies adopted to obtain informed consent from children and patients who are incapable of making their own decisions. They should develop a strategy for collaboration with clinical geneticists and for making a prenatal diagnosis.

  12. Communicating genetic information: a difficult challenge for future pediatricians

    Directory of Open Access Journals (Sweden)

    Shirsat Pratibha

    2007-06-01

    Full Text Available Abstract Background The role of the pediatrician as genetic counselor is ideal because pediatricians have medical knowledge and experience with genetic disorders (e.g. Down syndrome. Moreover, pediatricians can provide comprehensive care in a medical home to patients with genetic disorders. However, changes in the curriculum of the pediatric resident are necessary to address the future challenges of effectively communicating genetic information to patients. The objective of this study was to explore these challenges and make recommendations for training to adequately prepare pediatricians for their future role as genetic counselors. Methods Three reviewers independently searched PubMed, OVID, and Medline databases to identify articles describing the challenges of communicating genetic information to patients, published from 1960 to December 2005. After the publications were identified and reviewed, four major areas of interest were identified in order to categorize the findings. Results Twenty-five publications were identified during the literature search. From the review, the following categories were selected to organize the findings: (1 Inherent difficulties of communicating and comprehending genetic information; (2 Comprehension of genetic information by pediatricians; (3 Genetics training in residency programs; and (4 The effect of genetic information on the future role of pediatricians and potential legal implications. Conclusion Pediatricians and residents lack essential knowledge of genetics and communication skills for effective counseling of patients. The review indicated that successful communication of genetic information involves a number of important skills and considerations. It is likely that these skills and considerations are universally required for the communication of most complex specialized medical information. In the past, communication skills have not been considered a priority. Today, these skills have become a

  13. Genetic Susceptibility to Atherosclerosis

    Directory of Open Access Journals (Sweden)

    Sanja Kovacic

    2012-01-01

    Full Text Available Atherosclerosis is a complex multifocal arterial disease involving interactions of multiple genetic and environmental factors. Advances in techniques of molecular genetics have revealed that genetic ground significantly influences susceptibility to atherosclerotic vascular diseases. Besides further investigations of monogenetic diseases, candidate genes, genetic polymorphisms, and susceptibility loci associated with atherosclerotic diseases have been identified in recent years, and their number is rapidly increasing. This paper discusses main genetic investigations fields associated with human atherosclerotic vascular diseases. The paper concludes with a discussion of the directions and implications of future genetic research in arteriosclerosis with an emphasis on prospective prediction from an early age of individuals who are predisposed to develop premature atherosclerosis as well as to facilitate the discovery of novel drug targets.

  14. Genetic Pathways to Insomnia

    Directory of Open Access Journals (Sweden)

    Mackenzie J. Lind

    2016-12-01

    Full Text Available This review summarizes current research on the genetics of insomnia, as genetic contributions are thought to be important for insomnia etiology. We begin by providing an overview of genetic methods (both quantitative and measured gene, followed by a discussion of the insomnia genetics literature with regard to each of the following common methodologies: twin and family studies, candidate gene studies, and genome-wide association studies (GWAS. Next, we summarize the most recent gene identification efforts (primarily GWAS results and propose several potential mechanisms through which identified genes may contribute to the disorder. Finally, we discuss new genetic approaches and how these may prove useful for insomnia, proposing an agenda for future insomnia genetics research.

  15. Genetic alterations in pancreatic cancer

    Institute of Scientific and Technical Information of China (English)

    Muhammad Wasif Saif; Lena Karapanagiotou; Kostas Syrigos

    2007-01-01

    The diagnosis of pancreatic cancer is devastating for patients and their relatives as the incidence rate is approximately the same as mortality rate. Only a small percentage, which ranges from 0.4% to 4% of patients who have been given this diagnosis, will be alive at five years. At the time of diagnosis, 80% of pancreatic cancer patients have unresectable or metastatic disease.Moreover, the therapeutic alternatives offered by chemotherapy or radiotherapy are few, if not zero. For all these reasons, there is an imperative need of analyzing and understanding the primitive lesions that lead to invasive pancreatic adenocarcinoma. Molecular pathology of these lesions is the key of our understanding of the mechanisms underlying the development of this cancer and will probably help us in earlier diagnosis and better therapeutic results. This review focuses on medical research on pancreatic cancer models and the underlying genetic alterations.

  16. Genetic illnesses of the skin

    Directory of Open Access Journals (Sweden)

    Yordania Velázquez Avila

    2015-09-01

    Full Text Available At present, many genetic diseases, from 85 to 90 %, are considered rare diseases, since they affect a small number of individuals. The poor knowledge about them makes it difficult to diagnose them; they are chronic, incapacitating, with few therapeutic options diseases and often makes the patients’ adequate social integration impossible. The genodermatosis are part of the group of rare, uncommon and difficult to diagnose skin diseases; they are a frequent cause of stigmatization of those people who suffer from them. They may include: ichthyosis, epidermolysis bullosa, mastocytosis, neurofibromatosis, ectodermal dysplasia, palmoplantar keratoderma, Ehlers-Danlos syndrome, incontinentia pigmenti, pityriasis rubra pylaris, xeroderma pigmentosum, epiloia, Darier's disease, and vascular tumors, among others. It is necessary to increase knowledge about them in the field of medical sciences, allowing a better treatment for patients and improve their quality of life, as well as contribute to their prevention.

  17. Medicalization: Current concept and future directions in a Bionic Society

    Directory of Open Access Journals (Sweden)

    Antonio Maturo

    2012-01-01

    Full Text Available The article illustrates the main features of the concept of medicalization, starting from its theoretical roots. Although it is the process of extending the medical gaze on human conditions, it appears that medicalization cannot be strictly connected to medical imperialism anymore. Other "engines" of medicalization are influential: consumers, biotechnology and managed care. The growth of research and theoretical reflections on medicalization has led to the proposal of other parallel concepts like pharmaceuticalization, genetization and biomedicalization. These new theoretical tools could be useful in the analysis of human enhancement. Human enhancement can be considered as the use of biomedical technology to improve performance on a human being who is not in need of a cure: a practice that is increasingly spreading in what might be defined as a "bionic society".

  18. PCR in forensic genetics

    DEFF Research Database (Denmark)

    Morling, Niels

    2009-01-01

    Since the introduction in the mid-1980s of analyses of minisatellites for DNA analyses, a revolution has taken place in forensic genetics. The subsequent invention of the PCR made it possible to develop forensic genetics tools that allow both very informative routine investigations and still more...... and more advanced, special investigations in cases concerning crime, paternity, relationship, disaster victim identification etc. The present review gives an update on the use of DNA investigations in forensic genetics....

  19. Genetics of stroke

    OpenAIRE

    Guo, Jin-Min; Liu, Ai-Jun; Su, Ding-Feng

    2010-01-01

    Stroke is the second most common cause of death and the most common cause of disability in developed countries. Stroke is a multi-factorial disease caused by a combination of environmental and genetic factors. Numerous epidemiologic studies have documented a significant genetic component in the occurrence of strokes. Genes encoding products involved in lipid metabolism, thrombosis, and inflammation are believed to be potential genetic factors for stroke. Although a large group of candidate ge...

  20. Genetics of mental retardation

    OpenAIRE

    Ahuja A; Thapar Anita; Owen M

    2005-01-01

    Mental retardation can follow any of the biological, environmental and psychological events that are capable of producing deficits in cognitive functions. Recent advances in molecular genetic techniques have enabled us to understand more about the molecular basis of several genetic syndromes associated with mental retardation. In contrast, where there is no discrete cause, the interplay of genetic and environmental influences remains poorly understood. This article presents a critical review ...

  1. Genetics of complex diseases

    DEFF Research Database (Denmark)

    Mellerup, Erling; Møller, Gert Lykke; Koefoed, Pernille

    2012-01-01

    A complex disease with an inheritable component is polygenic, meaning that several different changes in DNA are the genetic basis for the disease. Such a disease may also be genetically heterogeneous, meaning that independent changes in DNA, i.e. various genotypes, can be the genetic basis...... for the disease. Each of these genotypes may be characterized by specific combinations of key genetic changes. It is suggested that even if all key changes are found in genes related to the biology of a certain disease, the number of combinations may be so large that the number of different genotypes may be close...

  2. Genetics of nonsyndromic obesity.

    Science.gov (United States)

    Lee, Yung Seng

    2013-12-01

    Common obesity is widely regarded as a complex, multifactorial trait influenced by the 'obesogenic' environment, sedentary behavior, and genetic susceptibility contributed by common and rare genetic variants. This review describes the recent advances in understanding the role of genetics in obesity. New susceptibility loci and genetic variants are being uncovered, but the collective effect is relatively small and could not explain most of the BMI heritability. Yet-to-be identified common and rare variants, epistasis, and heritable epigenetic changes may account for part of the 'missing heritability'. Evidence is emerging about the role of epigenetics in determining obesity susceptibility, mediating developmental plasticity, which confers obesity risk from early life experiences. Genetic prediction scores derived from selected genetic variants, and also differential DNA methylation levels and methylation scores, have been shown to correlate with measures of obesity and response to weight loss intervention. Genetic variants, which confer susceptibility to obesity-related morbidities like nonalcoholic fatty liver disease, were also discovered recently. We can expect discovery of more rare genetic variants with the advent of whole exome and genome sequencing, and also greater understanding of epigenetic mechanisms by which environment influences genetic expression and which mediate the gene-environment interaction.

  3. Genetics Home Reference: abetalipoproteinemia

    Science.gov (United States)

    ... Betalipoprotein Deficiency Disease Congenital betalipoprotein deficiency syndrome Microsomal Triglyceride Transfer Protein Deficiency Disease Related Information How are genetic conditions and genes ...

  4. Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference

    OpenAIRE

    Nair, Pratibha; Bizzari, Sami; Rajah, Nirmal; Assaf, Nada; Al-Ali, Mahmoud Taleb; Hamzeh, Abdul Rezzak

    2016-01-01

    The 6th Pan Arab Human Genetics Conference (PAHGC), “Genetics of Multifactorial Disorders” was organized by the Center for Arab Genomic Studies (http://www.cags.org.ae) in Dubai, United Arab Emirates from 21 to 23 January, 2016. The PAHGCs are held biennially to provide a common platform to bring together regional and international geneticists to share their knowledge and to discuss common issues. Over 800 delegates attended the first 2 days of the conference and these came from various medic...

  5. Medical Physicists and AAPM

    Science.gov (United States)

    Amols, Howard

    2006-03-01

    The American Association of Physicists in Medicine (AAPM), a member society of the AIP is the largest professional society of medical physicists in the world with nearly 5700 members. Members operate in medical centers, university and community hospitals, research laboratories, industry, and private practice. Medical physics specialties include radiation therapy physics, medical diagnostic and imaging physics, nuclear medicine physics, and medical radiation safety. The majority of AAPM members are based in hospital departments of radiation oncology or radiology and provide technical support for patient diagnosis and treatment in a clinical environment. Job functions include support of clinical care, calibration and quality assurance of medical devices such as linear accelerators for cancer therapy, CT, PET, MRI, and other diagnostic imaging devices, research, and teaching. Pathways into a career in medical physics require an advanced degree in medical physics, physics, engineering, or closely related field, plus clinical training in one or more medical physics specialties (radiation therapy physics, imaging physics, or radiation safety). Most clinically based medical physicists also obtain certification from the American Board of Radiology, and some states require licensure as well.

  6. The New World of Human Genetics: A dialogue between Practitioners & the General Public on Ethical, Legal & Social Implications of the Human Genome Project

    Energy Technology Data Exchange (ETDEWEB)

    Schofield, Amy

    2014-12-08

    The history and reasons for launching the Human Genome project and the current uses of genetic human material; Identifying and discussing the major issues stemming directly from genetic research and therapy-including genetic discrimination, medical/ person privacy, allocation of government resources and individual finances, and the effect on the way in which we perceive the value of human life; Discussing the sometimes hidden ethical, social and legislative implications of genetic research and therapy such as informed consent, screening and preservation of genetic materials, efficacy of medical procedures, the role of the government, and equal access to medical coverage.

  7. Genetic Programming and Genetic Algorithms for Propositions

    Directory of Open Access Journals (Sweden)

    Nabil M. HEWAHI

    2012-01-01

    Full Text Available In this paper we propose a mechanism to discover the compound proposition solutions for a given truth table without knowing the compound propositions that lead to the truth table results. The approach is based on two proposed algorithms, the first is called Producing Formula (PF algorithm which is based on the genetic programming idea, to find out the compound proposition solutions for the given truth table. The second algorithm is called the Solutions Optimization (SO algorithm which is based on genetic algorithms idea, to find a list of the optimum compound propositions that can solve the truth table. The obtained list will depend on the solutions obtained from the PF algorithm. Various types of genetic operators have been introduced to obtain the solutions either within the PF algorithm or SO algorithm.

  8. Judaism, genetic screening and genetic therapy.

    Science.gov (United States)

    Rosner, F

    1998-01-01

    Genetic screening, gene therapy and other applications of genetic engineering are permissible in Judaism when used for the treatment, cure, or prevention of disease. Such genetic manipulation is not considered to be a violation of God's natural law, but a legitimate implementation of the biblical mandate to heal. If Tay-Sachs disease, diabetes, hemophilia, cystic fibrosis, Huntington's disease or other genetic diseases can be cured or prevented by "gene surgery," then it is certainly permitted in Jewish law. Genetic premarital screening is encouraged in Judaism for the purpose of discouraging at-risk marriages for a fatal illness such as Tay-Sachs disease. Neonatal screening for treatable conditions such as phenylketonuria is certainly desirable and perhaps required in Jewish law. Preimplantation screening and the implantation of only "healthy" zygotes into the mother's womb to prevent the birth of an affected child are probably sanctioned in Jewish law. Whether or not these assisted reproduction techniques may be used to choose the sex of one's offspring, to prevent the birth of a child with a sex-linked disease such as hemophilia, has not yet been ruled on by modern rabbinic decisions. Prenatal screening with the specific intent of aborting an affected fetus is not allowed according to most rabbinic authorities, although a minority view permits it "for great need." Not to have children if both parents are carriers of genetic diseases such as Tay-Sachs is not a Jewish option. Preimplantation screening is preferable. All screening test results must remain confidential. Judaism does not permit the alteration or manipulation of physical traits and characteristics such as height, eye and hair color, facial features and the like, when such change provides no useful benefit to mankind. On the other hand, it is permissible to clone organisms and microorganisms to facilitate the production of insulin, growth hormone, and other agents intended to benefit mankind and to

  9. Morphometrics applied to medical entomology.

    Science.gov (United States)

    Dujardin, Jean-Pierre

    2008-12-01

    Morphometrics underwent a revolution more than one decade ago. In the modern morphometrics, the estimate of size is now contained in a single variable reflecting variation in many directions, as many as there are landmarks under study, and shape is defined as their relative positions after correcting for size, position and orientation. With these informative data, and the corresponding software freely available to conduct complex analyses, significant biological and epidemiological features can be quantified more accurately. We discuss the evolutionary significance of the environmental impact on metric variability, mentioning the importance of concepts like genetic assimilation, genetic accommodation, and epigenetics. We provide examples of measuring the effect of selection on metric variation by comparing (unpublished) Qst values with corresponding (published) Fst. The primary needs of medical entomologists are to distinguish species, especially cryptic species, and to detect them where they are not expected. We explain how geometric morphometrics could apply to these questions, and where there are deficiencies preventing the approach from being utilized at its maximum potential. Medical entomologists in connection with control programs aim to identify isolated populations where the risk of reinfestation after treatment would be low ("biogeographical islands"). Identifying them can be obtained from estimating the number of migrants per generation. Direct assessment of movement remains the most valid approach, but it scores active movement only. Genetic methods estimating gene flow levels among interbreeding populations are commonly used, but gene flow does not necessarily mean the current flow of migrants. Methods using the morphometric variation are neither suited to evaluate gene flow, nor are they adapted to estimate the flow of migrants. They may provide, however, the information needed to create a preliminary map pointing to relevant areas where one could

  10. An everlasting role of genetics and genomics in public health: a meeting report of ACGA-HKSMG International Conference on Genetic and Genomic Medicine 2008

    Institute of Scientific and Technical Information of China (English)

    Wai-Yee Chan; Stephen T.S.Lam; Bai-Lin Wu

    2009-01-01

    @@ The Association of Chinese Geneticists in America (ACGA) and the Hong Kong Society of Medical Genetics (HKSMG) held their first joint Conference on Genetic and Genomic Medicine in Hong Kong from June 9-11 in 2008at the Cheung Kung Hai Conference Center, William MW Mong Block, Li Ka Shing Faculty of Medicine, the University of Hong Kong.

  11. [Human genetic data from a data protection law perspective].

    Science.gov (United States)

    Schulte In den Bäumen, Tobias

    2007-02-01

    The collection and use of genetic data have caused much concern in the German population. Data protection is widely seen as the tool to address these fears. The term genetic data is not self-explanatory, as it depends on the different types of genetic diseases. The protection of genetic data as defined with regard to the different sets of diseases needs to fit into the preexisting data protection legislation. Still, the particularities of genetic data such as the multipersonal impact need to be considered. A balance between the information needs of society and the right to privacy requires a medically driven criteria. The medical term of indication which corresponds with the data protection term of purpose should serve as a tool in order to balance the rights of the patients and their relatives or between clients and third persons involved. Some countries have set up new legislative acts to address the challenges of human genetics. The current state of German data protection law leaves citizen rather unprotected as long as the data are used for medical purposes in a wider sense. A special law on the collection of genetic data has been discussed for several years, but it should be questioned whether the scope of a sector-specific law would serve citizens better. It seems to be preferable to adjust the existing Data Protection Act rather than drafting a specific law which covers the field of human genetics. This adaptation should reflect upon the different technical ways in which genetic data are collected and used.

  12. Effects of Medications on Voice

    Science.gov (United States)

    ... ENT Doctor Near You Effects of Medications on Voice Effects of Medications on Voice Patient Health Information ... entnet.org . Could Your Medication Be Affecting Your Voice? Some medications including prescription, over-the-counter, and ...

  13. Medication Use Before Your Operation

    Science.gov (United States)

    ... Surgical Support Groups Recursos en Español (Spanish Resources) Medication Use Before Your Operation Your medications may have ... restart taking these drugs. (See list.) List of medications that affect blood clotting:* Antiplatelet Medication: Anagrelide (Agrylin®), ...

  14. [Genetic and epigenetic mechanisms in obesity].

    Science.gov (United States)

    Hinney, A; Herrfurth, N; Schonnop, L; Volckmar, A-L

    2015-02-01

    Obesity is a relevant medical problem. Around 60 % of German adults are overweight, 20 % are obese. The hereditary contribution to the variance of body weight is high. Nevertheless, molecular genetic studies have as yet explained only a small part of the inter-individual variability in the body mass index (BMI). Monogenic forms of obesity, in which loss of a single gene product leads to extreme obesity, are very infrequent. Variance of body weight is commonly explained by a complex interplay of many genetic variants (polygenic obesity). Each variant contributes only a small amount to the body weight. Currently, the largest published analysis of individuals of European origin identified 32 genetic variations (single nucleotide polymorphisms, SNPs) associated with BMI (obesity). Overall, these polygenic obesity variants only explain about 5 % of the variance of the BMI. In addition to the DNA variants epigenetic factors seem to also play a role in body weight regulation. These epigenetic marks can change in the course of life. They might provide an interface between genetic and environmental influences. It is conceivable that in future it will be possible to use epigenetic and genetic markers to detect a predisposition for obesity and to improve prevention and therapy.

  15. Genetic Approach to Elucidation of Sasang Constitutional Medicine

    OpenAIRE

    Bu-Yeo Kim; Seongwon Cha; Hee-Jeong Jin; Sangkyun Jeong

    2009-01-01

    Sasang Constitutional Medicine (SCM) offers a medical principle that classifies humans into four constitution groups and guides their treatment with constitution-matched medical assistance. The principle of this traditional medicine, although requires significant scientific support, appears to suggest a genetic influence on constitution type. The relative frequency of constitution types in a population, for instance, has remained relatively constant since Jema Lee first described them from hi...

  16. Medical education in Malaysia.

    Science.gov (United States)

    Lim, Victor K E

    2008-01-01

    Malaysia has a long history of medical education, with Singapore becoming the first medical school to serve the region after its foundation in 1905. The first school to be established in Kuala Lumpur after independence from the British was the Faculty of Medicine at the University of Malaya in 1963. Whilst today there are 21 public and private medical schools, all offering a 5 year undergraduate programme, some private schools have diversified by developing international collaboration and conduct twinning or credit-transfer programmes. All medical schools require accreditation by the National Accreditation Board and the Malaysian Medical Council. Although the criteria for accreditation is comprehensive and covers a broad range of areas of assessment, it is debatable whether it always matches the needs of the country. The dramatic increase in medical schools in the last two decades has posed challenges in terms of maintenance of quality, physical infrastructure and suitably qualified faculty.

  17. Medical design anthropology

    DEFF Research Database (Denmark)

    Ventura, Jonathan; Gunn, Wendy

    Barnard and Spencer define medical anthropology in the Encyclopedia of Social and Cultural Anthropology as "Medical anthropology is, as the phrase implies, unavoidably concerned with the paradigm of modern Western medicine, whether implicitly or explicitly" (2002: 541). Recently there is a new...... focus in medical sociology and anthropology, which is patient's practices and influence on wider global health environment (see for example vol. 36(2) of Sociology of Health & Illness). While various social science theoreticians have written about agentic abilities of objects, there is a gap...... in literature concerning various levels of socio-cultural influence of the medical environment through medical products. In our research we have outlined the importance of medical design anthropology (MDA) to the practice and theory of design (Ventura and Gunn, 2016). In this paper, we study the ways in which...

  18. Organising medication discontinuation

    DEFF Research Database (Denmark)

    Nixon, Michael; Kousgaard, Marius Brostrøm

    2016-01-01

    Background: Discontinuing medications is a complex decision making process and an important medical practice. It is a tool in reducing polypharmacy, reducing health system expenditure and improving patient quality of life. Few studies have looked at how general practitioners (GPs) discontinue...... a medication, in agreement with the patients, from a professional perspective. Three research questions were examined in this study: when does medication discontinuation occur in general practice, how is discontinuing medication handled in the GP’s practice and how do GPs make decisions about discontinuing...... medication? Methods: Twenty four GPs were interviewed using a maximum variation sample strategy. Participant observations were done in three general practices, for one day each, totalling approximately 30 consultations. Results: The results show that different discontinuation cues (related to the type...

  19. Current genetic counseling in China%中国目前的遗传咨询

    Institute of Scientific and Technical Information of China (English)

    章远志; Nanbert ZHONG

    2006-01-01

    @@ In 1975, the American Society of Human Genetics adopted the following definition of genetic counseling: genetic counseling is a communication process which deals with the human problems associated with the occurrence or risk of occurrence of a genetic disorder in a family. This definition indicates that genetic counseling is the delivery of information about genetic diseases, including genetic risks, natural history of the disease, and clinical management of the disease, to patients and their families. Although genetic counseling is not a new word for both western countries and China, the development of which is quite different. Many excellent genetic counseling programs have been developed since then in developed countries, whereas there is no formal one in China. In the United States, professionals who carry out genetic counseling must have taken a professional training and have had the certificate of American Board of Genetic Counseling (ABGC) (www.abgc.net). The ABGC prepares and administers examinations to certify individuals who provide services in the medical genetics specialty of genetic counseling, and accredits training programs in the field of genetic counseling. There are more than two dozen master degree programs of genetic counseling accredited by the ABGC with either full, interim, or recognized new programs (www.abgc.net). There are twenty-one full credential programs in the United States, three in Australia, three in Canada and two in United Kingdom (www.abgc.net). Looking through all over the China, there is no any official genetic counseling program, so neither any professional genetic counselor. Genetic counseling in China now is not offered by professionally trained genetic counselors, but clinicians such as pediatricians or obstetricians[1]. These clinicians who performing genetic counseling in China have not been trained professionally on genetic counseling. Further more, there is no any board to certificate counselors.

  20. Fundamentals of Medical Ultrasonics

    CERN Document Server

    Postema, Michiel

    2011-01-01

    This book sets out the physical and engineering principles of acoustics and ultrasound as used for medical applications. It covers the basics of linear acoustics, wave propagation, non-linear acoustics, acoustic properties of tissue, transducer components, and ultrasonic imaging modes, as well as the most common diagnostic and therapeutic applications. It offers students and professionals in medical physics and engineering a detailed overview of the technical aspects of medical ultrasonic imaging, whilst serving as a reference for clinical and research staff.

  1. Medical tourism in India.

    Science.gov (United States)

    Gupta, Vijay; Das, Poonam

    2012-06-01

    The term 'medical tourism' is under debate because health care is a serious business and rarely do patients combine the two. India is uniquely placed by virtue of its skilled manpower, common language, diverse medical conditions that doctors deal with, the volume of patients, and a large nonresident Indian population overseas. Medical tourism requires dedicated services to alleviate the anxiety of foreign patients. These include translation, currency conversion, travel, visa, posttreatment care system,and accommodation of patient relatives during and after treatment.

  2. REMINDER FROM MEDICAL SERVICE

    CERN Multimedia

    Medical Service

    2002-01-01

    For medical problems, we would like to remind all personnel working on the CERN sites, staff members or from outside firms, that they are welcome at the Infirmary, building 57, ground floor. For information, call the nurses: on telephone: 73802 by e-mail: Service.Medical@cern.ch Francoise.Lebrun-Klauser@cern.ch Mireille.Vosdey@cern.ch Katie.Warrillow-Thomson@cern.ch Medical Service

  3. Reminder from Medical Service

    CERN Multimedia

    Medical Service

    2004-01-01

    For medical problems, we would like to remind all personnel working on the CERN sites, staff members or from outside firms, that they are welcome at the Infirmary, building 57, ground floor. For information, call the nurses on telephone: 73802 by e-mail: Service.Medical@cern.ch Francoise.Lebrun-Klauser@cern.ch Mireille.Vosdey@cern.ch Katie.Warrillow-Thomson@cern.ch Medical Service

  4. Medical waste management plan.

    Energy Technology Data Exchange (ETDEWEB)

    Lane, Todd W.; VanderNoot, Victoria A.

    2004-12-01

    This plan describes the process for managing research generated medical waste at Sandia National Laboratories/California. It applies to operations at the Chemical and Radiation Detection Laboratory (CRDL), Building 968, and other biosafety level 1 or 2 activities at the site. It addresses the accumulation, storage, treatment and disposal of medical waste and sharps waste. It also describes the procedures to comply with regulatory requirements and SNL policies applicable to medical waste.

  5. Hereditary spastic paraplegia: clinical principles and genetic advances.

    Science.gov (United States)

    Fink, John K

    2014-07-01

    Hereditary spastic paraplegia (HSP) refers to inherited disorders in which spastic gait is either the only feature or is a major syndrome feature. There are more than 70 genetic types of HSP. Neuropathological studies, albeit limited to only a few genetic types of HSP, have identified axon degeneration involving the distal ends of the corticospinal tracts and fasciculus gracilis fibers. In this review, the author highlights the clinical and genetic features of HSP. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  6. The role of the genetic counsellor: a systematic review of research evidence.

    Science.gov (United States)

    Skirton, Heather; Cordier, Christophe; Ingvoldstad, Charlotta; Taris, Nicolas; Benjamin, Caroline

    2015-04-01

    In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and facilitation of psychosocial adjustment of the client to their genetic status and situation. To evaluate the extent to which genetic counsellors fulfil their prescribed roles, we conducted a systematic review of the published relevant scientific evidence. We searched five relevant electronic databases (Medline, CINAHL, SocIndex, AMED and PsychInfo) using relevant search terms and handsearched four subject-specific journals for research-based papers published in English between 1 January 2000 and 30 June 2013. Of 419 potential papers identified initially, seven satisfied the inclusion criteria for the review. Themes derived from the thematic analysis of the data were: (i) rationale for genetic counsellors to provide care, (ii) appropriate roles and responsibilities and (iii) the types of conditions included in the genetic counsellor caseload. The findings of this systematic review indicate that where genetic counsellors are utilised in specialist genetic settings, they undertake a significant workload associated with direct patient care and this appears to be acceptable to patients. With the burden on genetic services, there is an argument for the increased use of genetic counsellors in countries where they are under-utilised. In addition, roles undertaken by genetic counsellors in specialist genetic settings could be adapted to integrate genetic counsellors into multi-disciplinary teams in other specialisms.

  7. Medical student-mothers.

    Science.gov (United States)

    Taylor, Julie; Macnamara, Marina; Groskin, Anna; Petras, Laura

    2013-03-01

    Medical training is challenging and parenting is a full-time responsibility. Balancing a family with the significant demands of medical school is a daunting endeavor. Yet there is little research available to guide students, faculty, or administrators. Using one U.S. medical school as a case study, this article provides a comprehensive overview of the common personal and professional challenges that medical students who are also mothers face during their undergraduate medical education, and practical strategies and resources useful in navigating such challenges. This article is also a resource guide for the faculty and administrators who teach, advise, and mentor medical-student parents. For leaders in medical education, the article concludes with suggestions to better support the health and educational experience of medical student-parents: 1) a systematic network of career advisors, 2) scheduling flexibility, 3) formal breastfeeding policies and workplace support, 4) institutionally supported childcare, and 5) how student-parents may foster the educational health mission of medical schools.

  8. Cannabinoids: Medical implications.

    Science.gov (United States)

    Schrot, Richard J; Hubbard, John R

    2016-01-01

    Herbal cannabis has been used for thousands of years for medical purposes. With elucidation of the chemical structures of tetrahydrocannabinol (THC) and cannabidiol (CBD) and with discovery of the human endocannabinoid system, the medical usefulness of cannabinoids has been more intensively explored. While more randomized clinical trials are needed for some medical conditions, other medical disorders, like chronic cancer and neuropathic pain and certain symptoms of multiple sclerosis, have substantial evidence supporting cannabinoid efficacy. While herbal cannabis has not met rigorous FDA standards for medical approval, specific well-characterized cannabinoids have met those standards. Where medical cannabis is legal, patients typically see a physician who "certifies" that a benefit may result. Physicians must consider important patient selection criteria such as failure of standard medical treatment for a debilitating medical disorder. Medical cannabis patients must be informed about potential adverse effects, such as acute impairment of memory, coordination and judgment, and possible chronic effects, such as cannabis use disorder, cognitive impairment, and chronic bronchitis. In addition, social dysfunction may result at work/school, and there is increased possibility of motor vehicle accidents. Novel ways to manipulate the endocannbinoid system are being explored to maximize benefits of cannabinoid therapy and lessen possible harmful effects.

  9. Medical equipment management

    CERN Document Server

    Willson, Keith; Tabakov, Slavik

    2013-01-01

    Know What to Expect When Managing Medical Equipment and Healthcare Technology in Your Organization As medical technology in clinical care becomes more complex, clinical professionals and support staff must know how to keep patients safe and equipment working in the clinical environment. Accessible to all healthcare professionals and managers, Medical Equipment Management presents an integrated approach to managing medical equipment in healthcare organizations. The book explains the underlying principles and requirements and raises awareness of what needs to be done and what questions to ask. I

  10. [Anxiety--medical aspects].

    Science.gov (United States)

    Dosiak, M

    1997-01-01

    In this paper the author presented themes connected with anxiety disorder in general medical practice. Pathogenesis, classification, dependence between anxiety and somatic and psychical diseases were described there.

  11. Medical Certification System -

    Data.gov (United States)

    Department of Transportation — Provides automated risk-based decision making capability in support of medical certification and clearances processing associated fees and supporting surveillance of...

  12. Genetics in the courts

    Energy Technology Data Exchange (ETDEWEB)

    Coyle, Heather; Drell, Dan

    2000-12-01

    Various: (1)TriState 2000 Genetics in the Courts (2) Growing impact of the new genetics on the courts (3)Human testing (4) Legal analysis - in re G.C. (5) Legal analysis - GM ''peanots'', and (6) Legal analysis for State vs Miller

  13. Genetics and Developmental Psychology

    Science.gov (United States)

    Plomin, Robert

    2004-01-01

    One of the major changes in developmental psychology during the past 50 years has been the acceptance of the important role of nature (genetics) as well as nurture (environment). Past research consisting of twin and adoption studies has shown that genetic influence is substantial for most domains of developmental psychology. Present research…

  14. Genetics and Developmental Psychology

    Science.gov (United States)

    Plomin, Robert

    2004-01-01

    One of the major changes in developmental psychology during the past 50 years has been the acceptance of the important role of nature (genetics) as well as nurture (environment). Past research consisting of twin and adoption studies has shown that genetic influence is substantial for most domains of developmental psychology. Present research…

  15. Ethical issues in genetics.

    Science.gov (United States)

    Shannon, T A

    1999-03-01

    The first section of the Notes on Moral Theology reviews ethical issues in genetics through the lenses of privacy-confidentiality; risk-benefit analysis in relation to prenatal diagnosis and gene therapy; and freedom-determinism/human dignity in the context of cloning. The author provides an overview of developments in genetics and highlights thematic issues common to these developments.

  16. Cryptic Genetic Variation in Evolutionary Developmental Genetics

    Directory of Open Access Journals (Sweden)

    Annalise B. Paaby

    2016-06-01

    Full Text Available Evolutionary developmental genetics has traditionally been conducted by two groups: Molecular evolutionists who emphasize divergence between species or higher taxa, and quantitative geneticists who study variation within species. Neither approach really comes to grips with the complexities of evolutionary transitions, particularly in light of the realization from genome-wide association studies that most complex traits fit an infinitesimal architecture, being influenced by thousands of loci. This paper discusses robustness, plasticity and lability, phenomena that we argue potentiate major evolutionary changes and provide a bridge between the conceptual treatments of macro- and micro-evolution. We offer cryptic genetic variation and conditional neutrality as mechanisms by which standing genetic variation can lead to developmental system drift and, sheltered within canalized processes, may facilitate developmental transitions and the evolution of novelty. Synthesis of the two dominant perspectives will require recognition that adaptation, divergence, drift and stability all depend on similar underlying quantitative genetic processes—processes that cannot be fully observed in continuously varying visible traits.

  17. Cryptic Genetic Variation in Evolutionary Developmental Genetics.

    Science.gov (United States)

    Paaby, Annalise B; Gibson, Greg

    2016-06-13

    Evolutionary developmental genetics has traditionally been conducted by two groups: Molecular evolutionists who emphasize divergence between species or higher taxa, and quantitative geneticists who study variation within species. Neither approach really comes to grips with the complexities of evolutionary transitions, particularly in light of the realization from genome-wide association studies that most complex traits fit an infinitesimal architecture, being influenced by thousands of loci. This paper discusses robustness, plasticity and lability, phenomena that we argue potentiate major evolutionary changes and provide a bridge between the conceptual treatments of macro- and micro-evolution. We offer cryptic genetic variation and conditional neutrality as mechanisms by which standing genetic variation can lead to developmental system drift and, sheltered within canalized processes, may facilitate developmental transitions and the evolution of novelty. Synthesis of the two dominant perspectives will require recognition that adaptation, divergence, drift and stability all depend on similar underlying quantitative genetic processes-processes that cannot be fully observed in continuously varying visible traits.

  18. Transethnic Genetic-Correlation Estimates from Summary Statistics.

    Science.gov (United States)

    Brown, Brielin C; Ye, Chun Jimmie; Price, Alkes L; Zaitlen, Noah

    2016-07-07

    The increasing number of genetic association studies conducted in multiple populations provides an unprecedented opportunity to study how the genetic architecture of complex phenotypes varies between populations, a problem important for both medical and population genetics. Here, we have developed a method for estimating the transethnic genetic correlation: the correlation of causal-variant effect sizes at SNPs common in populations. This methods takes advantage of the entire spectrum of SNP associations and uses only summary-level data from genome-wide association studies. This avoids the computational costs and privacy concerns associated with genotype-level information while remaining scalable to hundreds of thousands of individuals and millions of SNPs. We applied our method to data on gene expression, rheumatoid arthritis, and type 2 diabetes and overwhelmingly found that the genetic correlation was significantly less than 1. Our method is implemented in a Python package called Popcorn.

  19. Improving your genetic literacy in epilepsy-A new series.

    Science.gov (United States)

    Tan, Nigel C K; Lowenstein, Daniel H

    2015-11-01

    Advances in epilepsy genetics have been rapid, and it is challenging for clinicians on the ground to keep pace with these advances. The International League Against Epilepsy (ILAE) Genetics Commission has thus crafted a new Genetic Literacy series targeted at busy clinicians. Our goal is to help provide a concise, accessible resource on epilepsy genetics for the busy, on-the-ground clinician so that he/she can apply that knowledge at point-of-care to help patients. This new series is grounded in educational theories and evidence to ensure that learning is effective and efficient. We hope that by promoting and encouraging continuing medical education in epilepsy genetics, this eventually translates to better patient management and therefore better patient health outcomes.

  20. DTC genetic testing: pendulum swings and policy paradoxes.

    Science.gov (United States)

    Caulfield, T

    2012-01-01

    After decades of optimistic portrayals, there has been a shift in the way that the popular press represents genomic research. A skeptical view has become more common. The central reason for this pendulum swing away from popular support is the harsh truth that most genetic risk information just isn't that predictive. This reality has created a fascinating policy paradox. If, as many in the scientific community are now saying, genetic information is not the oracle of our future health as we were once led to believe, and if access does not, for most, cause harm, why regulate the area? Why worry about shoddy direct-to-consumer (DTC) genetic testing companies? One primary justification, and one endorsed by the recent Canadian College of Medical Geneticists (CCMG) Policy Statement on DTC Genetics Testing, is that information that is conveyed to the public about genetics via marketing and to those who access DTC tests should, at a minimum, be accurate.