WorldWideScience

Sample records for medical genetic clinic

  1. Medical Genetics In Clinical Practice

    African Journals Online (AJOL)

    1974-08-24

    Aug 24, 1974 ... Genetics is now an important facet of medical practice. and clinical ... facilities for cytogenetic and biochemical investigation are an essential ..... mem, and Rehabilitation (WHO Technical Report Series No. 497). Geneva: WHO ...

  2. 76 FR 18227 - Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee; Notice of...

    Science.gov (United States)

    2011-04-01

    ...] Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee; Notice of Meeting... comment period for the notice announcing a meeting of the Molecular and Clinical Genetics Panel (the panel... Clinical Genetics Panel of the Medical Devices Advisory Committee, and the opening of a public docket to...

  3. Assessment of Genetics Knowledge and Skills in Medical Students: Insight for a Clinical Neurogenetics Curriculum

    Science.gov (United States)

    Pearl, Phillip L.; Pettiford, Jennifer M.; Combs, Susan E.; Heffron, Ari; Healton, Sean; Hovaguimian, Alexandra; Macri, Charles J.

    2011-01-01

    The pace of discovery in biochemistry and genetics and its effect on clinical medicine places new curricular challenges in medical school education. We sought to evaluate students' understanding of neurogenetics and its clinical applications to design a pilot curriculum into the clinical neurology clerkship. We utilized a needs assessment and a…

  4. 76 FR 6623 - Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee; Notice of Meeting

    Science.gov (United States)

    2011-02-07

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES Food and Drug Administration [Docket No. FDA-2011-N-0066] Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee; Notice of Meeting AGENCY... public. Name of Committee: Molecular and Clinical Genetics Panel of the Medical Devices Advisory...

  5. 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.

  6. Inspirations in medical genetics.

    Science.gov (United States)

    Asadollahi, Reza

    2016-02-01

    There are abundant instances in the history of genetics and medical genetics to illustrate how curiosity, charisma of mentors, nature, art, the saving of lives and many other matters have inspired great discoveries. These achievements from deciphering genetic concepts to characterizing genetic disorders have been crucial for management of the patients. There remains, however, a long pathway ahead. © The Author(s) 2014.

  7. Recent developments in genetics and medically assisted reproduction: from research to clinical applications.

    Science.gov (United States)

    Harper, J C; Aittomäki, K; Borry, P; Cornel, M C; de Wert, G; Dondorp, W; Geraedts, J; Gianaroli, L; Ketterson, K; Liebaers, I; Lundin, K; Mertes, H; Morris, M; Pennings, G; Sermon, K; Spits, C; Soini, S; van Montfoort, A P A; Veiga, A; Vermeesch, J R; Viville, S; Macek, M

    2018-01-01

    Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.

  8. Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics.

    Science.gov (United States)

    Acmg Board Of Directors

    2017-07-01

    Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other health-care providers, to help them provide quality medical genetic services. Adherence to these recommendations 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 to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from these recommendations.Genet Med advance online publication 05 January 2017.

  9. 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.

  10. 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.

  11. 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. Copyright © 2010 Elsevier Inc. All rights reserved.

  12. Medical privacy and the disclosure of personal medical information: the beliefs and experiences of those with genetic and other clinical conditions.

    Science.gov (United States)

    Kass, Nancy E; Hull, Sara Chandros; Natowicz, Marvin R; Faden, Ruth R; Plantinga, Laura; Gostin, Lawrence O; Slutsman, Julia

    2004-07-30

    There has been heightened legislative attention to medical privacy and to protections from genetic discrimination, without large-scale studies to document privacy concerns or analysis of whether experiences differ by whether the condition is genetic (defined here as a single-gene disorder) or non-genetic. To determine whether experiences regarding privacy, disclosure, and consequences of disclosure differ by whether one's medical condition is genetic, we conducted a descriptive study with one-time, structured quantitative and qualitative interviews. We interviewed approximately 100 adults or parents of children with each of the following medical conditions: sickle cell disease, cystic fibrosis, diabetes, and HIV, and 200 adults with or at risk for breast cancer or colon cancer. The percentages of the total 597 respondents experiencing positive or negative consequences of disclosure and the degree to which experiences differed by whether the condition was genetic were the outcomes of interest. Seventy-four percent were glad and 13% regretted others knew about their condition; these findings did not differ significantly by genetic vs. non-genetic condition. Reports of job and health insurance discrimination were not uncommon for the overall study population (19 and 27%, respectively) but were more likely among those with genetic conditions (30 and 37%, respectively). Legislation and other policy-making should target the needs of persons with all conditions and not focus exclusively on genetic discrimination, given that experiences and concerns generally do not differ based on the genetic etiology of the condition. Copyright 2004 Wiley-Liss, Inc.

  13. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy.

    Science.gov (United States)

    Harper, Joyce; Geraedts, Joep; Borry, Pascal; Cornel, Martina C; Dondorp, Wybo J; 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

    2014-08-01

    How has the interface between genetics and assisted reproduction technology (ART) evolved since 2005? The interface between ART and genetics has become more entwined as we increase our understanding about the genetics of infertility and we are able to perform more comprehensive genetic testing. 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 ART and published an extended background paper, recommendations and two Editorials. An interdisciplinary workshop was held, involving representatives of both professional societies and experts from the European Union Eurogentest2 Coordination Action Project. In March 2012, a group of experts from the European Society of Human Genetics, the European Society of Human Reproduction and Embryology and the EuroGentest2 Coordination Action Project met to discuss developments at the interface between clinical genetics and ART. As more genetic causes of reproductive failure are now recognized and an increasing number of patients undergo testing of their genome prior to conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and PGD may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from RCTs 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 (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

  14. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy

    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

    2013-01-01

    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 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

  15. 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…

  16. Medical genetic issues in clinical of pediatric neurology practice:a history of pediatrics in Peking University First Hospital.

    Science.gov (United States)

    Wu, Xi-ru

    2006-02-18

    The Department of Pediatrics of Peking University First Hospital has a long term of outstanding history. It was established about 60 years ago. After the division of pediatric neurology (DPN) had been established in 1960s, it had been assigned to cover genetic disorders. During the recent 20 years, efforts have been put on three aspects: (1) Pediatric neurology clinical service and education; (2) research studies of childhood epilepsies and pediatric neurogenetic disorders; and (3) development of a strong DPN team to establish a comprehensive pediatric neurological program. In this paper, we reviewed the history of the pediatric neurology division in our department, our clinical and research work and achievements for neurogenetic diseases.

  17. Clinical Cancer Genetics and Prevention

    Science.gov (United States)

    Olufunmilayo F. Olopade MD, FACP, Professor of Medicine and Human Genetics and Director of the Cancer Risk Clinic Department of Medicine, BSD Section of Hematology/Oncology University of Chicago, presented "Clinical Cancer Genetics and Prevention".

  18. Archives: Egyptian Journal of Medical Human Genetics

    African Journals Online (AJOL)

    Items 1 - 34 of 34 ... Archives: Egyptian Journal of Medical Human Genetics. Journal Home > Archives: Egyptian Journal of Medical Human Genetics. Log in or Register to get access to full text downloads.

  19. Experiencing the genetic body: parents' encounters with pediatric clinical genetics.

    Science.gov (United States)

    Raspberry, Kelly; Skinner, Debra

    2007-01-01

    Because of advancements in genetic research and technologies, the clinical practice of genetics is becoming a prevalent component of biomedicine. As the genetic basis for more and more diseases are found, it is possible that ways of experiencing health, illness, identity, kin relations, and the body are becoming geneticized, or understood within a genetic model of disease. Yet, other models and relations that go beyond genetic explanations also shape interpretations of health and disease. This article explores how one group of individuals for whom genetic disorder is highly relevant formulates their views of the body in light of genetic knowledge. Using data from an ethnographic study of 106 parents or potential parents of children with known or suspected genetic disorders who were referred to a pediatric genetic counseling and evaluation clinic in the southeastern United States, we find that these parents do, to some degree, perceive of their children's disorders in terms of a genetic body that encompasses two principal qualities: a sense of predetermined health and illness and an awareness of a profound historicity that reaches into the past and extends into the present and future. They experience this genetic body as both fixed and historical, but they also express ideas of a genetic body made less deterministic by their own efforts and future possibilities. This account of parents' experiences with genetics and clinical practice contributes to a growing body of work on the ways in which genetic information and technologies are transforming popular and medical notions of the body, and with it, health, illness, kinship relations, and personal and social identities.

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

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2013-11-15

    Nov 15, 2013 ... maps of gene loci based on information gathered, formerly, ... represented as figure or text interface data. Relevant ... The Egyptian Journal of Medical Human Genetics ... prophylactic management and genetic counseling. 17.

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

    Directory of Open Access Journals (Sweden)

    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.

  2. Epilepsy genetics: clinical beginnings and social consequences.

    Science.gov (United States)

    Johnston, J A; Rees, M I; Smith, P E M

    2009-07-01

    The approach to epilepsy care has transformed in the last 30 years, with more and better anti-epileptic medications, improved cerebral imaging and increased surgical options. Alongside this, developments in neuroscience and molecular genetics have furthered the understanding of epileptogenesis. Future developments in pharmacogenomics hold the promise of antiepileptic drugs matched to specific genotypes. Despite this rapid progress, one-third of epilepsy patients remain refractory to medication, with their seizures impacting upon day-to-day activity, social well-being, independence, economic output and quality of life. International genome collaborations, such as HapMap and the Welcome Trust Case-Control Consortium single nucleotide polymorphism (SNP) mapping project have identified common genetic variations in diseases of major public health importance. Such genetic signposts should help to identify at-risk populations with a view to producing more effective pharmaceutical treatments. Neurological disorders, despite comprising one-fifth of UK acute medical hospital admissions, are surprisingly under-represented in these projects. Epilepsy is the commonest serious neurological disorder worldwide. Although physically, psychologically, socially and financially disabling, it rarely receives deserved attention from physicians, scientists and governmental bodies. As outlined in this article, research into epilepsy genetics presents unique challenges. These help to explain why the identification of its complex genetic traits has lagged well behind other disciplines, particularly the efforts made in neuropsychiatric disorders. Clinical beginnings must underpin any genetic understanding in epilepsy. Success in identifying genetic traits in other disorders does not make the automatic case for genome-wide screening in epilepsy, but such is a desired goal. The essential clinical approach of accurately phenotyping, diagnosing and interpreting the dynamic nature of epilepsy

  3. Accuracy of family history of cancer : clinical genetic implications

    NARCIS (Netherlands)

    Sijmons, RH; Boonstra, AE; Reefhuis, J; Hordijk-Hos, JM; de Walle, HEK; Oosterwijk, JC; Cornel, MC

    Family medical history is the cornerstone of clinical genetic diagnosis and management in cases of familial cancer. The soundness of medical decisions can be compromised if reports by the family on affected relatives are inaccurate. Although very time consuming, family medical histories are

  4. Egyptian Journal of Medical Human Genetics - Vol 14, No 3 (2013)

    African Journals Online (AJOL)

    Egyptian Journal of Medical Human Genetics - Vol 14, No 3 (2013) ... Comparative study: Parameters of gait in Down syndrome versus matched obese and ... episodes in a Japanese child: Clinical, radiological and molecular genetic analysis ...

  5. Teaching Medical Students Clinical Anesthesia.

    Science.gov (United States)

    Curry, Saundra E

    2018-05-01

    There are many reasons for evaluating our approach and improving our teaching of America's future doctors, whether they become anesthesiologists (recruitment) or participate in patient management in the perioperative period (general patient care). Teaching medical students the seminal aspects of any medical specialty is a continual challenge. Although no definitive curricula or single clinical approach has been defined, certain key features can be ascertained from clinical experience and the literature. A survey was conducted among US anesthesiology teaching programs regarding the teaching content and approaches currently used to teach US medical students clinical anesthesia. Using the Accreditation Council for Graduate Medical Education website that lists 133 accredited anesthesiology programs, residency directors were contacted via e-mail. Based on those responses and follow-up phone calls, teaching representatives from 125 anesthesiology departments were identified and asked via e-mail to complete a survey. The survey was returned by 85 programs, yielding a response rate of 68% of individuals contacted and 63% of all departments. Ninety-one percent of the responding departments teach medical students, most in the final 2 years of medical school. Medical student exposure to clinical anesthesia occurred as elective only at 42% of the institutions, was requirement only at 16% of responding institutions, and the remainder had both elective and required courses. Anesthesiology faculty at 43% of the responding institutions reported teaching in the preclinical years of medical school, primarily in the departments of pharmacology and physiology. Forty-five percent of programs reported interdisciplinary teaching with other departments teaching classes such as gross anatomy. There is little exposure of anesthesiology faculty to medical students in other general courses. Teaching in the operating room is the primary teaching method in the clinical years. Students are

  6. Egyptian Journal of Medical Human Genetics

    African Journals Online (AJOL)

    ... and genetic counseling as well as advances in prevention and treatment of genetic disorders. ... Clinical application of genomics and next generation sequencing ... vectors and SIN channels further relieves the limitations of gene therapy ... 3 gene in Malaysian subjects with neovascular age-related macular degeneration ...

  7. [60 years of medical genetics in Israel].

    Science.gov (United States)

    Shalev, Stavit A; Borochowitz, Zvi U; Zlotogora, Joel

    2010-02-01

    The principle deeds of genetics in Israel consist of a wide array of disciplines including agriculture, nutrients, biotechnology, pharmacology and pharmacogenetics, pertaining to criminal as well as medical aspects. In the scope of this state of the art historical review, the authors emphasize the medical issues. The initial stimulus for genetic studies and medical awareness among the various ethnic populations in Israel was the immigration, in the early 1950s, of over a million Jewish immigrants from more than 100 countries from all continents. It was soon recognized that frequencies of genetic diseases differed markedly among the various communities, serving as a trigger for studying and managing these populations. In this state of the art historical review, particular emphasize was given to the historical events concerning genetics in the land of Israel, as well as in the state of Israel. Highlights of genetic diversity of the various ethnic and sub-populations are added, along with the advances and major achievements of the human genetics discipline in the state of Israel.

  8. Effectiveness of an online curriculum for medical students on genetics, genetic testing and counseling

    Directory of Open Access Journals (Sweden)

    Mary P. Metcalf

    2010-01-01

    Full Text Available Background: It is increasingly important that physicians have a thorough understanding of the basic science of human genetics and the ethical, legal and social implications (ELSI associated with genetic testing and counseling. Methods: The authors developed a series of web-based courses for medical students on these topics. The course modules are interactive, emphasize clinical case studies, and can easily be incorporated into existing medical school curricula. Results: Results of a ‘real world’ effectiveness trial indicate that the courses have a statistically significant effect on knowledge, attitude, intended behavior and self-efficacy related to genetic testing (p<0.001; N varies between 163 and 596 for each course. Conclusions: The results indicate that this curriculum is an effective tool for educating medical students on the ELSI associated with genetic testing and for promoting positive changes in students' confidence, counseling attitudes and behaviors.

  9. Medical image segmentation using genetic algorithms.

    Science.gov (United States)

    Maulik, Ujjwal

    2009-03-01

    Genetic algorithms (GAs) have been found to be effective in the domain of medical image segmentation, since the problem can often be mapped to one of search in a complex and multimodal landscape. The challenges in medical image segmentation arise due to poor image contrast and artifacts that result in missing or diffuse organ/tissue boundaries. The resulting search space is therefore often noisy with a multitude of local optima. Not only does the genetic algorithmic framework prove to be effective in coming out of local optima, it also brings considerable flexibility into the segmentation procedure. In this paper, an attempt has been made to review the major applications of GAs to the domain of medical image segmentation.

  10. 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

  11. Genetics: A New Landscape for Medical Geography

    Science.gov (United States)

    Carrel, Margaret; Emch, Michael

    2014-01-01

    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. PMID:24558292

  12. 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.

  13. Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience.

    Science.gov (United States)

    Hu, Xuyun; Li, Niu; Xu, Yufei; Li, Guoqiang; Yu, Tingting; Yao, Ru-En; Fu, Lijun; Wang, Jiwen; Yin, Lei; Yin, Yong; Wang, Ying; Jin, Xingming; Wang, Xiumin; Wang, Jian; Shen, Yiping

    2017-11-02

    PurposeTo evaluate the performance of proband-only medical exome sequencing (POMES) as a cost-effective first-tier diagnostic test for pediatric patients with unselected conditions.MethodsA total of 1,323 patients were tested by POMES, which targeted 2,742 known disease-causing genes. Clinical relevant variants were Sanger-confirmed in probands and parents. We assessed the diagnostic validity and clinical utility of POMES by means of a survey questionnaire.ResultsPOMES, ordered by 136 physicians, identified 512 pathogenic or likely pathogenic variants associated with over 200 conditions. The overall diagnostic rate was 28.8%, ranging from 10% in neonatal intensive care unit patients to over 35% in pediatric intensive care unit patients. The test results had an impact on the management of the 45.1% of patients for whom there were positive findings. The average turnaround time was 57 days; the cost was $360/case.ConclusionWe adopted a relatively efficient and cost-effective approach in China for the molecular diagnosis of pediatric patients with suspected genetic conditions. While training for clinical geneticists and other specialists is lagging behind in China POMES is serving as a diagnostic equalizer for patients who do not normally receive extensive clinical evaluation and clinical diagnosis prior to testing. This Chinese experience should be applicable to other developing countries that are lacking clinical, financial, and personnel resources.GENETICS in MEDICINE advance online publication, 2 November 2017; doi:10.1038/gim.2017.195.

  14. Clinical errors and medical negligence.

    Science.gov (United States)

    Oyebode, Femi

    2013-01-01

    This paper discusses the definition, nature and origins of clinical errors including their prevention. The relationship between clinical errors and medical negligence is examined as are the characteristics of litigants and events that are the source of litigation. The pattern of malpractice claims in different specialties and settings is examined. Among hospitalized patients worldwide, 3-16% suffer injury as a result of medical intervention, the most common being the adverse effects of drugs. The frequency of adverse drug effects appears superficially to be higher in intensive care units and emergency departments but once rates have been corrected for volume of patients, comorbidity of conditions and number of drugs prescribed, the difference is not significant. It is concluded that probably no more than 1 in 7 adverse events in medicine result in a malpractice claim and the factors that predict that a patient will resort to litigation include a prior poor relationship with the clinician and the feeling that the patient is not being kept informed. Methods for preventing clinical errors are still in their infancy. The most promising include new technologies such as electronic prescribing systems, diagnostic and clinical decision-making aids and error-resistant systems. Copyright © 2013 S. Karger AG, Basel.

  15. Clinical applications of preimplantation genetic testing.

    Science.gov (United States)

    Brezina, Paul R; Kutteh, William H

    2015-02-19

    Genetic diagnostic technologies are rapidly changing the way medicine is practiced. Preimplantation genetic testing is a well established application of genetic testing within the context of in vitro fertilization cycles. It involves obtaining a cell(s) from a developing embryo in culture, which is then subjected to genetic diagnostic analysis; the resulting information is used to guide which embryos are transferred into the uterus. The potential applications and use of this technology have increased in recent years. Experts agree that preimplantation genetic diagnosis is clinically appropriate for many known genetic disorders. However, some applications of such testing, such as preimplantation genetic screening for aneuploidy, remain controversial. Clinical data suggest that preimplantation genetic screening may be useful, but further studies are needed to quantify the size of the effect and who would benefit most. © BMJ Publishing Group Ltd 2015.

  16. Genetic testing for clinically suspected spinocerebellar ataxias ...

    Indian Academy of Sciences (India)

    Mahesh

    Research Article. Genetic ... Melbourne, Australia and Department of Animal Science, School of Life .... The patients were assessed according to the International Cooperative Ataxia Rating ..... The Indian Journal of Medical Research 126(5):.

  17. Medical Biochemistry – Clinical Cases

    Directory of Open Access Journals (Sweden)

    Gustavo Henrique Cavalcante

    2017-10-01

    Full Text Available The presentation of situations that exemplifies the practical application of the biochemical concepts is one of the main challenges in the development of didactic materials for the teaching of biochemistry. So far, there are a small number of materials, especially in Portuguese language, that present practical situations exemplifying the application of the several biochemical concepts in the area of human health. The Medical Biochemistry-Clinical Cases app/ebook is intended to enable the integrated vision of the basic knowledge in biochemistry and its practical application in day-to-day situations of human health professionals. The biochemical concepts are presented as clinical cases, making possible the exercise of the analytical attitude and decision-making to solve problems based on real situations. The app is available on the internet for free, facilitating both, the access and the use of the material as a supplementary source.

  18. Genetic testing in congenital heart disease:A clinical approach

    Institute of Scientific and Technical Information of China (English)

    Marie A Chaix; Gregor Andelfinger; Paul Khairy

    2016-01-01

    Congenital heart disease(CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient followup. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel.

  19. Genetic testing in congenital heart disease: A clinical approach

    Science.gov (United States)

    Chaix, Marie A; Andelfinger, Gregor; Khairy, Paul

    2016-01-01

    Congenital heart disease (CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient follow-up. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel. PMID:26981213

  20. Clinical judgement and the medical profession

    Science.gov (United States)

    Kienle, Gunver S; Kiene, Helmut

    2011-01-01

    Objectives Clinical judgment is a central element of the medical profession, essential for the performance of the doctor, and potentially generating information also for other clinicians and for scientists and health care managers. The recently renewed interest in clinical judgement is primarily engaged with its role in communication, diagnosis and decision making. Beyond this issue, the present article highlights the interrelations between clinical judgement, therapy assessment and medical professionalism. Methods Literature review and theory development. Results The article presents different methodological approaches to causality assessment in clinical studies and in clinical judgement, and offers criteria for clinical single case causality. The article outlines models of medical professionalism such as technical rationality and practice epistemology, and characterizes features of professional expertise such as tacit knowledge, reflection in action, and gestalt cognition. Conclusions Consequences of a methodological and logistical advancement of clinical judgment are discussed, both in regard to medical progress and to the renewel of the cognitive basis of the medical profession. PMID:20973873

  1. 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

  2. Duty to disclose in medical genetics: a legal perspective.

    Science.gov (United States)

    Pelias, M Z

    1991-06-01

    As technical knowledge and public information in medical genetics continue to expand, the geneticist may expect to be held responsible for informing patients and clients about new developments in research and diagnosis. The long legal evolution of the physician's duty to disclose, and more recent findings of a physician's duty to recall former patients to inform them about newly discovered risks of treatment, indicate that medical geneticists may have a duty to disclose both current and future information about conditions that are or could be inherited. Recent case law supports findings of professional liability for both present and future disclosure, even in the absence of an active physician-patient relationship. The requirement of candid and complete disclosure will affect the counseling approach in testing for deleterious genes and in providing medical treatment for minors with hereditary diseases. Finding a duty to recall may impose further professional burdens on the geneticist to reach beyond the immediate counseling arena and to recontact patients, perhaps years after their initial visit to genetics clinic.

  3. Clinical medical librarian: the last unicorn?

    OpenAIRE

    Demas, J M; Ludwig, L T

    1991-01-01

    In the information age of the 1990s, the clinical medical librarian (CML) concept, like many other personalized library services, is often criticized as being too labor-intensive and expensive; others praise its advantages. To determine the attitudes of medical school library directors and clinical department heads toward implementation and feasibility of a CML program, forty randomly selected medical schools were surveyed. A double-blind procedure was used to sample department heads in inter...

  4. Application of medical cases in general genetics teaching in universities.

    Science.gov (United States)

    He, Zhumei; Bie, Linsai; Li, Wei

    2018-01-20

    General genetics is a core course in life sciences, medicine, agriculture and other related fields. As one of the most fast-developing disciplines of life sciences in the 21th century, the influence of the genetics knowledge on daily life is expanding, especially on human health and reproduction. In order to make it easier for students to understand the profound principles of genetics and to better apply the theories to daily life, we have introduced appropriate medical cases in general genetics teaching and further extended them combined with theoretical basis of genetics. This approach will be beneficial to enhance students' abilities of genetic analysis and promote their enthusiasm to learn and master practical skills. In this paper, we enumerate medical cases related to the modern genetics teaching system to provide a reference for genetics teaching in general and normal universities.

  5. [Clinical and genetic aspects of albinism].

    Science.gov (United States)

    Arveiler, Benoit; Lasseaux, Eulalie; Morice-Picard, Fanny

    Albinism is a genetic disease affecting 1/17,000 person worldwide. It constitutes the second cause of congenital loss of visual acuity after optic atrophy. Albinism is heterogeneous both at the clinical and genetic levels. It is characterized by ocular development anomalies and by a variable degree of hypopigmentation. Clinically, three forms of the disease are described: oculocutaneous, ocular and syndromic (Hermansky-Pudlak syndrome, Chediak-Higashi syndrome). Nineteen genes involved in the different types of albinism have been described so far. The broad phenotypic variability between the different forms but also within a particular form renders the establishment of phenotype-genotype correlations impossible. A genetic test exploring all 19 genes is necessary to establish the diagnosis and to distinguish between syndromic and non-syndromic forms. We present the creation of an albinism-dedicated Day Hospital at the University Hospital of Bordeaux. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  6. A clinical and molecular-genetic analysis of Chinese patients with ...

    Indian Academy of Sciences (India)

    1Department of Medical Genetics, School of Medicine, 2Department of Ophthalmology, The First Affiliated ... method of polymerase chain reaction – single strand confor- .... Sex. Age of onset. Vision. Symptoms. Slit-lamp examination. Clinical.

  7. Impact of genetic polymorphisms on clinical response to antithrombotics

    Directory of Open Access Journals (Sweden)

    Kena J Lanham

    2010-06-01

    Full Text Available Kena J Lanham1,2, Julie H Oestreich3, Steven P Dunn1,2, Steven R Steinhubl41Pharmacy Services, UK HealthCare, University of Kentucky, Lexington, Kentucky, USA; 2Department of Pharmacy Practice and Science, College of Pharmacy, University of Kentucky, Lexington, Kentucky, USA; 3Department of Pharmacy Practice, College of Pharmacy, University of Nebraska, Omaha, Nebraska, USA; 4The Medicines Company, Zurich, Switzerland and The Geisinger Clinic, Danville, Pennsylvania, USAAbstract: Antithrombotic therapy, including anticoagulants as well as antiplatelet drugs, is an important component in the treatment of cardiovascular disease. Variability in response to such medications, of which pharmacogenetic response is a major source, can decrease or enhance the benefits expected. This review is a comprehensive assessment of the literature published to date on the effects of genetic polymorphisms on the actions of a variety of antithrombotic medications, including warfarin, clopidogrel, prasugrel, and aspirin. Literature evaluating surrogate markers in addition to the impact of pharmacogenetics on clinical outcomes has been reviewed. The results of the studies are conflicting as to what degree pharmacogenetics will affect medication management in cardiovascular disease. Additional research is necessary to discover, characterize, and prospectively evaluate genetic and non-genetic factors that impact antithrombotic treatment in order to maximize the effectiveness and limit the harmful effects of these valuable agents.Keywords: aspirin, warfarin, clopidogrel, prasugrel, pharmacogenetic, antithrombotic, antiplatelet

  8. Points to consider for prioritizing clinical genetic testing services

    DEFF Research Database (Denmark)

    Severin, Franziska; Borry, Pascal; Cornel, Martina C

    2015-01-01

    Given the cost constraints of the European health-care systems, criteria are needed to decide which genetic services to fund from the public budgets, if not all can be covered. To ensure that high-priority services are available equitably within and across the European countries, a shared set...... testing services available in the next decade. Ethically and economically reflected prioritization criteria are needed. Prioritization should be based on considerations of medical benefit, health need and costs. Medical benefit includes evidence of benefit in terms of clinical benefit, benefit......, following the principles of accountability for reasonableness. We provide points to consider to stimulate this debate across the EU and to serve as a reference for improving patient management.European Journal of Human Genetics advance online publication, 24 September 2014; doi:10.1038/ejhg.2014.190....

  9. Training future physicians in the era of genomic medicine: trends in undergraduate medical genetics education.

    Science.gov (United States)

    Plunkett-Rondeau, Jevon; Hyland, Katherine; Dasgupta, Shoumita

    2015-11-01

    Advances in genomic technologies are transforming medical practice, necessitating the expertise of genomically-literate physicians. This study examined 2013-2014 trends in genetics curricula in US and Canadian medical schools to ascertain whether and how curricula are keeping pace with this rapid evolution. Medical genetics course directors received a 60-item electronic questionnaire covering curriculum design, assessment, remediation of failing grades, and inclusion of specific topics. The response rate was 74%. Most schools teach the majority of genetics during the first 2 years, with an increase in the number of integrated curricula. Only 26% reported formal genetics teaching during years 3 and 4, and most respondents felt the amount of time spent on genetics was insufficient preparation for clinical practice. Most participants are using the Association of Professors of Human and Medical Genetics Core Curriculum(1) as a guide. Topics recently added include personalized medicine (21%) and direct-to-consumer testing (18%), whereas eugenics (17%), linkage analysis (16%), and evolutionary genetics (15%) have been recently eliminated. Remediation strategies were heterogeneous across institutions. These findings provide an important update on how genetics and genomics is taught at US and Canadian medical schools. Continuous improvement of educational initiatives will aid in producing genomically-literate physicians.

  10. Primary ciliary dyskinesia: clinical and genetic aspects

    Directory of Open Access Journals (Sweden)

    E. D’Auria

    2012-06-01

    Full Text Available Primary ciliary dyskinesia (PCD is a rare, genetically heterogeneous disease, characterized by ciliary disfunction and impaired mucociliary clearance, resulting in a range of clinical manifestations such as chronic bronchitis, bronchiectasis, chronic rhino-sinusitis, chronic otitis media, situs viscerum inversus in almost 40-50% of cases and male infertility. The triad situs viscerum inversus, bronchiectasis and sinusitis is known as Kartagener syndrome. Up to now little is known about genetic, diagnostic and therapeutic aspects of primary motile ciliary diseases in children: for this reason, diagnosis is generally delayed and almost all treatments for PCD are not based on randomized studies but extrapolated from cystic fibrosis guidelines. The aim of this review is to propose to pediatricians a summary of current clinical and diagnostic evidence to obtain better knoledwge of this condition. The earlier diagnosis and the right treatment are both crucial to improve the prognosis of PCD.

  11. Medical student resilience and stressful clinical events during clinical training.

    Science.gov (United States)

    Houpy, Jennifer C; Lee, Wei Wei; Woodruff, James N; Pincavage, Amber T

    2017-01-01

    Medical students face numerous stressors during their clinical years, including difficult clinical events. Fostering resilience is a promising way to mitigate negative effects of stressors, prevent burnout, and help students thrive after difficult experiences. However, little is known about medical student resilience. To characterize medical student resilience and responses to difficult clinical events during clinical training. Sixty-two third-year (MS3) and 55 fourth-year (MS4) University of Chicago medical students completed surveys in 2016 assessing resilience (Connor Davidson Resilience Scale, CD-RISC 10), symptoms of burnout, need for resilience training, and responses to difficult clinical events. Medical student mean resilience was lower than in a general population sample. Resilience was higher in males, MS4s, those without burnout symptoms, and students who felt able to cope with difficult clinical events. When students experienced difficult events in the clinical setting, the majority identified poor team dynamics among the most stressful, and agreed their wellbeing was affected by difficult clinical events. A majority also would prefer to discuss these events with their team later that day. Students discussed events with peers more than with attendings or residents. Students comfortable discussing stress and burnout with peers had higher resilience. Most students believed resilience training would be helpful and most beneficial during MS3 year. Clinical medical student resilience was lower than in the general population but higher in MS4s and students reporting no burnout. Students had some insight into their resilience and most thought resilience training would be helpful. Students discussed difficult clinical events most often with peers. More curricula promoting medical student resilience are needed.

  12. Clinical medical librarian: the last unicorn?

    Science.gov (United States)

    Demas, J M; Ludwig, L T

    1991-01-01

    In the information age of the 1990s, the clinical medical librarian (CML) concept, like many other personalized library services, is often criticized as being too labor-intensive and expensive; others praise its advantages. To determine the attitudes of medical school library directors and clinical department heads toward implementation and feasibility of a CML program, forty randomly selected medical schools were surveyed. A double-blind procedure was used to sample department heads in internal medicine, pediatrics, and surgery, as well as health sciences library directors identified by the Association of Academic Health Sciences Library Directors (AAHSLD) annual statistics. The survey instrument was designed to measure responses to the following attitudinal variables: acceptance and nonacceptance of a CML program; importance to patient care, education, and research; influence on information-seeking patterns of health care professionals; ethical issues; CML extension services; and costs. Seventy-nine usable questionnaires out of a total of 120 (66%) were obtained from clinical medical personnel, and 30 usable questionnaires out of a total of 40 (75%) were obtained from medical school library directors. Survey results indicated significant differences between clinical medical personnel and library personnel regarding attitudes toward CML influence on information-seeking patterns, ethics, alternative CML services, and costs. Survey results also indicated a continuing strong support for CML programs in the medical school setting; however, differences of opinion existed toward defining the role of the CML and determining responsibility for funding.

  13. Controlling complexity: the clinical relevance of mouse complex genetics

    Czech Academy of Sciences Publication Activity Database

    Forejt, Jiří

    2013-01-01

    Roč. 21, č. 11 (2013), s. 1191-1196 ISSN 1018-4813 Institutional support: RVO:68378050 Keywords : Mouse model * Forward genetics * Rewiev Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Genetics and heredity (medical genetics to be 3) Impact factor: 4.225, year: 2013

  14. Genetic databases and consent for use of medical records

    NARCIS (Netherlands)

    Gevers, J. K. M.

    2004-01-01

    The legislation on the Icelandic genetic database provides for an opting-out system for the collection of encoded medical information from individual medical records. From the beginning this has raised criticism, in Iceland itself and abroad. The Supreme Court has now decided that this approach of

  15. Application of active learning modalities to achieve medical genetics competencies and their learning outcome assessments

    Directory of Open Access Journals (Sweden)

    Hagiwara N

    2017-12-01

    Full Text Available Nobuko Hagiwara Division of Cardiovascular Medicine, Department of Internal Medicine, School of Medicine, University of California, Davis, CA, USA Abstract: The steadily falling costs of genome sequencing, coupled with the growing number of genetic tests with proven clinical validity, have made the use of genetic testing more common in clinical practice. This development has necessitated nongeneticist physicians, especially primary care physicians, to become more responsible for assessing genetic risks for their patients. Providing undergraduate medical students a solid foundation in genomic medicine, therefore, has become all the more important to ensure the readiness of future physicians in applying genomic medicine to their patient care. In order to further enhance the effectiveness of instructing practical skills in medical genetics, the emphasis of active learning modules in genetics curriculum at medical schools has increased in recent years. This is because of the general acceptance of a better efficacy of active learner-centered pedagogy over passive lecturer-centered pedagogy. However, an objective standard to evaluate students’ skill levels in genomic medicine achieved by active learning is currently missing. Recently, entrustable professional activities (EPAs in genomic medicine have been proposed as a framework for developing physician competencies in genomic medicine. EPAs in genomic medicine provide a convenient guideline for not only developing genomic medicine curriculum but also assessing students’ competency levels in practicing genomic medicine. In this review, the efficacy of different types of active learning modules reported for medical genetics curricula is discussed using EPAs in genomic medicine as a common evaluation standard for modules’ learning outcomes. The utility of the EPAs in genomic medicine for designing active learning modules in undergraduate medical genetics curricula is also discussed. Keywords

  16. Teaching clinical reasoning to medical students.

    Science.gov (United States)

    Gay, Simon; Bartlett, Maggie; McKinley, Robert

    2013-10-01

    Keele Medical School's new curriculum includes a 5-week course to extend medical students' consultation skills beyond those historically required for competent inductive diagnosis. Clinical reasoning is a core skill for the practice of medicine, and is known to have implications for patient safety, yet historically it has not been explicitly taught. Rather, it has been assumed that these skills will be learned by accumulating a body of knowledge and by observing expert clinicians. This course aims to assist students to develop their own clinical reasoning skills and promote their greater understanding of, and potential to benefit from, the clinical reasoning skills of others. The course takes place in the fourth or penultimate year, and is integrated with students' clinical placements, giving them opportunities to practise and quickly embed their learning. This course emphasises that clinical reasoning extends beyond initial diagnosis into all other aspects of clinical practice, particularly clinical management. It offers students a variety of challenging and interesting opportunities to engage with clinical reasoning across a wide range of clinical practice. It addresses bias through metacognition and increased self-awareness, considers some of the complexities of prescribing and non-pharmacological interventions, and promotes pragmatic evidence-based practice, information management within the consultation and the maximising of patient adherence. This article describes clinical reasoning-based classroom and community teaching. Early evaluation suggests that students value the course and benefit from it. © 2013 John Wiley & Sons Ltd.

  17. Characterizing Clinical Genetic Counselors' Countertransference Experiences: an Exploratory Study.

    Science.gov (United States)

    Reeder, Rebecca; Veach, Patricia McCarthy; MacFarlane, Ian M; LeRoy, Bonnie S

    2017-10-01

    Countertransference (CT) refers to conscious and unconscious emotions, fantasies, behaviors, perceptions, and psychological defenses genetic counselors experience in response to any aspect of genetic counseling situations (Weil 2010). Some authors theorize about the importance of recognizing and managing CT, but no studies solely aim to explore genetic counselors' experiences of the phenomenon. This study examined the extent to which clinical genetic counselors' perceive themselves as inclined to experience CT, gathered examples of CT encountered in clinical situations, and assessed their CT management strategies. An anonymous online survey, sent to NSGC members, yielded 127 usable responses. Participants completed Likert-type items rating their CT propensities; 57 of these individuals also provided examples of CT they experienced in their practice. Factor analysis of CT propensities tentatively suggested four factors: Control, Conflict Avoidance, Directiveness, and Self-Regulation, accounting for 38.5% of response variance. Thematic analysis of CT examples yielded five common triggers: general similarity to patient, medical/genetic similarity, angry patients, patient behaves differently from counselor expectations, and disclosing bad news; six common manifestations: being self-focused, projecting feelings onto the patient, intense emotional reaction to patient, being overly invested, disengagement, and physical reaction; five CT effects: disruption in rapport building, repaired empathy, over-identification, conversation does not reach fullest potential, and counselor is drained emotionally; and three management strategies: recognizing CT as it occurs, self-reflection, and consultation. Results suggest CT is a common experience, occurring in both "routine" and emotionally complex cases. Training programs, continuing education, and peer supervision might include discussion of CT, informed by examples from the present study, to increase genetic counselor awareness

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

    Science.gov (United States)

    Wolyniak, Michael J; Bemis, Lynne T; Prunuske, Amy J

    2015-01-01

    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.

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

    Science.gov (United States)

    Wolyniak, Michael J; Bemis, Lynne T; Prunuske, Amy J

    2015-01-01

    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. PMID:26604852

  20. From Servicescape to Loyalty in the Medical Tourism Industry: A Medical Clinic's Service Perspective.

    Science.gov (United States)

    Kim, Minseong; Koo, Dong-Woo; Shin, Dong-Jin; Lee, Sae-Mi

    2017-01-01

    Medical tourism organizations have increasingly recognized that loyalty makes a medical clinic a marketing success. To increase understanding of the importance of medical clinics, this study examined the roles of servicescapes, emotions, and satisfaction in the development of customer loyalty toward medical clinics and destination. Data were collected among international medical tourists visiting Korea. Results identified that dimensions of medical clinics' servicescape (ie, medical clinic environment, medical treatment, staff, and doctor) influenced emotions and satisfaction among international medical tourists. Also, positive emotions and the 2 dimensions of satisfaction with a medical clinic and doctor mediate the influence of medical clinics' servicescapes on 2 types of loyalty (the medical clinic and Korea for medical care). Overall, these findings indicate that the interrelationship of servicescapes, positive emotion, and satisfaction is essential in influencing international medical tourists' loyalty to a medical clinic.

  1. Medical radiation exposure and genetic risks

    International Nuclear Information System (INIS)

    Baker, D.G.

    1980-01-01

    Everyone is exposed to background radiation throughout life (100 mrem/year to the gonads or 4 to 5 rem during the reproductive years). A lumbosacral series might deliver 2500 mrem to the male or 400 mrem to the female gonads. A radiologic procedure is a cost/benefit decision, and genetic risk is a part of the cost. Although cost is usually very low compared to benefit, if the procedure is unnecessary then the cost may be unacceptable. On the basis of current estimates, the doubling dose is assumed to be 40 rem (range 20 to 200) for an acute dose, and 100 rem for protracted exposure. Although there is no satisfactory way to predict the size of the risk for an individual exposed, any risk should be incentive to avoid unnecessary radiation to the gonads. Conception should be delayed for at least ten months for women and three or four months for men after irradiation of the gonads. The current incidence of genetically related diseases in the United States population is 60,000 per million live births. Based on the most conservative set of assumptions, an average gonadal dose of 1000 mrem to the whole population would increase the incidence of genetically related diseases by 0.2%

  2. Clinical learning environment at Shiraz Medical School.

    Science.gov (United States)

    Rezaee, Rita; Ebrahimi, Sedigheh

    2013-01-01

    Clinical learning occurs in the context of a dynamic environment. Learning environment found to be one of the most important factors in determining the success of an effective teaching program. To investigate, from the attending and resident's perspective, factors that may affect student leaning in the educational hospital setting at Shiraz University of Medical Sciences (SUMS). This study combined qualitative and quantitative methods to determine factors affecting effective learning in clinical setting. Residents evaluated the perceived effectiveness of the university hospital learning environment. Fifty two faculty members and 132 residents participated in this study. Key determinants that contribute to an effective clinical teaching were autonomy, supervision, social support, workload, role clarity, learning opportunity, work diversity and physical facilities. In a good clinical setting, residents should be appreciated and given appropriate opportunities to study in order to meet their objectives. They require a supportive environment to consolidate their knowledge, skills and judgment. © 2013 Tehran University of Medical Sciences. All rights reserved.

  3. Clinical impact of recent genetic discoveries in osteoporosis

    Directory of Open Access Journals (Sweden)

    Mitchell BD

    2013-10-01

    Full Text Available Braxton D Mitchell, Elizabeth A StreetenDepartment of Medicine and Program for Personalized and Genomic Medicine, University of Maryland School of Medicine, and Geriatric Research and Education Clinical Center, Veterans Administration Medical Center, Baltimore, MD, USAAbstract: Osteoporotic fracture carries an enormous public health burden in terms of mortality and morbidity. Current approaches to identify individuals at high risk for fracture are based on assessment of bone mineral density and presence of other osteoporosis risk factors. Bone mineral density and susceptibility to osteoporotic fractures are highly heritable, and over 60 loci have been robustly associated with one or both traits through genome-wide association studies carried out over the past 7 years. In this review, we discuss opportunities and challenges for incorporating these genetic discoveries into strategies to prevent osteoporotic fracture and translating new insights obtained from these discoveries into development of new therapeutic targets.Keywords: bone mineral density, genome-wide association studies, osteoporosis, prediction, fracture, genetics

  4. Implementation of molecular karyotyping in clinical genetics

    Directory of Open Access Journals (Sweden)

    Luca Lovrecic

    2013-11-01

    Full Text Available Rapid development of technologies for the study of the human genome is an expected step after the discovery and sequencing of the entire human genome. Chromosomal microarrays, which allow us to perform tens of thousands of previously individual experiments simultaneously, are being utilized in all areas of human genetics and genomics. Initially, this was applicable only for research purposes, but in the last few years their clinical diagnostic purposes are becoming more and more relevant. Using molecular karyotyping (also chromosomal microarray, comparative genomic hybridization with microarray, aCGH, one can analyze microdeletions / microduplications in the whole human genome at once. It is a first-tier cytogenetic diagnostic test instead of G-banded karyotyping in patients with developmental delay and/or congenital anomalies. Molecular karyotyping is used as a diagnostic test in patients with unexplained developmental delay and/or idiopathic intellectual disability and/or dysmorphic features and/or multiple congenital anomalies (DD/ID/DF/MCA. In addition, the method is used in prenatal diagnostics and in some centres also in preimplantation genetic diagnosis.The aim of this paper is to inform the professional community in the field about this new diagnostic method and its implementation in Slovenia, and to define the clinical situations where the method is appropriate.

  5. Medical Ethics in Contemporary Clinical Practice

    Directory of Open Access Journals (Sweden)

    John R. Williams

    2005-11-01

    Full Text Available This review article describes and analyzes ethical issues in medical practice, particularly those issues encountered by physicians in their relationships with their patients. These relationships often involve ethical conflicts between 2 or more interests, which physicians need to recognize and resolve. The article deals with 4 topics in clinical practice in which ethical conflicts occur: physicians' duty of confidentiality in a digital environment, their responsibilities for dealing with abuses of the human rights of patients, their role in clinical research, and their relationships with commercial enterprises. The ethical policies of the World Medical Association provide the basis for determining appropriate physician conduct on these matters. The article concludes with reflections on the need for international standards of medical ethics.

  6. 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. Copyright © 2013 Wiley Periodicals, Inc.

  7. Primordial dwarfism: overview of clinical and genetic aspects.

    Science.gov (United States)

    Khetarpal, Preeti; Das, Satrupa; Panigrahi, Inusha; Munshi, Anjana

    2016-02-01

    Primordial dwarfism is a group of genetic disorders which include Seckel Syndrome, Silver-Russell Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism types I/III, II and Meier-Gorlin Syndrome. This genetic disorder group is characterized by intra-uterine growth retardation and post-natal growth abnormalities which occur as a result of disorganized molecular and genomic changes in embryonic stage and, thus, it represents a unique area to study growth and developmental abnormalities. Lot of research has been carried out on different aspects; however, a consolidated review that discusses an overall spectrum of this disorder is not accessible. Recent research in this area points toward important molecular and cellular mechanisms in human body that regulate the complexity of growth process. Studies have emerged that have clearly associated with a number of abnormal chromosomal, genetic and epigenetic alterations that can predispose an embryo to develop PD-associated developmental defects. Finding and associating such fundamental changes to its subtypes will help in re-examination of alleged functions at both cellular and developmental levels and thus reveal the intrinsic mechanism that leads to a balanced growth. Although such findings have unraveled a subtle understanding of growth process, we further require active research in terms of identification of reliable biomarkers for different subtypes as an immediate requirement for clinical utilization. It is hoped that further study will advance the understanding of basic mechanisms regulating growth relevant to human health. Therefore, this review has been written with an aim to present an overview of chromosomal, molecular and epigenetic modifications reported to be associated with different subtypes of this heterogenous disorder. Further, latest findings with respect to clinical and molecular genetics research have been summarized to aid the medical fraternity in their clinical utility, for diagnosing disorders

  8. 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.

  9. A toolkit for incorporating genetics into mainstream medical services: Learning from service development pilots in England

    Directory of Open Access Journals (Sweden)

    Burton Hilary

    2010-05-01

    Full Text Available Abstract Background As advances in genetics are becoming increasingly relevant to mainstream healthcare, a major challenge is to ensure that these are integrated appropriately into mainstream medical services. In 2003, the Department of Health for England announced the availability of start-up funding for ten 'Mainstreaming Genetics' pilot services to develop models to achieve this. Methods Multiple methods were used to explore the pilots' experiences of incorporating genetics which might inform the development of new services in the future. A workshop with project staff, an email questionnaire, interviews and a thematic analysis of pilot final reports were carried out. Results Seven themes relating to the integration of genetics into mainstream medical services were identified: planning services to incorporate genetics; the involvement of genetics departments; the establishment of roles incorporating genetic activities; identifying and involving stakeholders; the challenges of working across specialty boundaries; working with multiple healthcare organisations; and the importance of cultural awareness of genetic conditions. Pilots found that the planning phase often included the need to raise awareness of genetic conditions and services and that early consideration of organisational issues such as clinic location was essential. The formal involvement of genetics departments was crucial to success; benefits included provision of clinical and educational support for staff in new roles. Recruitment and retention for new roles outside usual career pathways sometimes proved difficult. Differences in specialties' working practices and working with multiple healthcare organisations also brought challenges such as the 'genetic approach' of working with families, incompatible record systems and different approaches to health professionals' autonomous practice. 'Practice points' have been collated into a Toolkit which includes resources from the pilots

  10. A toolkit for incorporating genetics into mainstream medical services: Learning from service development pilots in England.

    Science.gov (United States)

    Bennett, Catherine L; Burke, Sarah E; Burton, Hilary; Farndon, Peter A

    2010-05-14

    As advances in genetics are becoming increasingly relevant to mainstream healthcare, a major challenge is to ensure that these are integrated appropriately into mainstream medical services. In 2003, the Department of Health for England announced the availability of start-up funding for ten 'Mainstreaming Genetics' pilot services to develop models to achieve this. Multiple methods were used to explore the pilots' experiences of incorporating genetics which might inform the development of new services in the future. A workshop with project staff, an email questionnaire, interviews and a thematic analysis of pilot final reports were carried out. Seven themes relating to the integration of genetics into mainstream medical services were identified: planning services to incorporate genetics; the involvement of genetics departments; the establishment of roles incorporating genetic activities; identifying and involving stakeholders; the challenges of working across specialty boundaries; working with multiple healthcare organisations; and the importance of cultural awareness of genetic conditions. Pilots found that the planning phase often included the need to raise awareness of genetic conditions and services and that early consideration of organisational issues such as clinic location was essential. The formal involvement of genetics departments was crucial to success; benefits included provision of clinical and educational support for staff in new roles. Recruitment and retention for new roles outside usual career pathways sometimes proved difficult. Differences in specialties' working practices and working with multiple healthcare organisations also brought challenges such as the 'genetic approach' of working with families, incompatible record systems and different approaches to health professionals' autonomous practice. 'Practice points' have been collated into a Toolkit which includes resources from the pilots, including job descriptions and clinical tools. These can

  11. Introducing medical genetics services in Ethiopia using the MiGene Family History App.

    Science.gov (United States)

    Quinonez, Shane C; Yeshidinber, Abate; Lourie, Michael A; Bekele, Delayehu; Mekonnen, Yemisrach; Nigatu, Balkachew; Metaferia, Gesit; Jebessa, Solomie

    2018-06-11

    Almost all low-income countries and many middle-income countries lack the capacity to deliver medical genetics services. We developed the MiGene Family History App (MFHA), which assists doctors with family history collection and population-level epidemiologic analysis. The MFHA was studied at St. Paul's Hospital in Addis Ababa, Ethiopia. A needs assessment was used to assess Ethiopian physicians' experience with genetics services. The MFHA then collected patient data over a 6-month period. The majority of doctors provide genetics services, with only 16% reporting their genetics knowledge is sufficient. A total of 1699 patients from the pediatric ward (n = 367), neonatal intensive care unit (NICU) (n = 477), and antenatal clinic (n = 855) were collected using the MFHA with a 4% incidence of a MFHA-screened condition present. The incidence was 11.7% in the pediatric ward, 3% in the NICU, and 0.5% in the antenatal clinic. Heart malformations (5.5% of patients) and trisomy 21 (4.4% of patients) were the most common conditions in the pediatric ward. Medical genetics services are needed in Ethiopia. As other countries increase their genetics capacity, the MFHA can provide fundamental genetics services and collect necessary epidemiologic data.

  12. Application of active learning modalities to achieve medical genetics competencies and their learning outcome assessments.

    Science.gov (United States)

    Hagiwara, Nobuko

    2017-01-01

    The steadily falling costs of genome sequencing, coupled with the growing number of genetic tests with proven clinical validity, have made the use of genetic testing more common in clinical practice. This development has necessitated nongeneticist physicians, especially primary care physicians, to become more responsible for assessing genetic risks for their patients. Providing undergraduate medical students a solid foundation in genomic medicine, therefore, has become all the more important to ensure the readiness of future physicians in applying genomic medicine to their patient care. In order to further enhance the effectiveness of instructing practical skills in medical genetics, the emphasis of active learning modules in genetics curriculum at medical schools has increased in recent years. This is because of the general acceptance of a better efficacy of active learner-centered pedagogy over passive lecturer-centered pedagogy. However, an objective standard to evaluate students' skill levels in genomic medicine achieved by active learning is currently missing. Recently, entrustable professional activities (EPAs) in genomic medicine have been proposed as a framework for developing physician competencies in genomic medicine. EPAs in genomic medicine provide a convenient guideline for not only developing genomic medicine curriculum but also assessing students' competency levels in practicing genomic medicine. In this review, the efficacy of different types of active learning modules reported for medical genetics curricula is discussed using EPAs in genomic medicine as a common evaluation standard for modules' learning outcomes. The utility of the EPAs in genomic medicine for designing active learning modules in undergraduate medical genetics curricula is also discussed.

  13. Clinical Learning Environment at Shiraz Medical School

    Directory of Open Access Journals (Sweden)

    Sedigheh Ebrahimi

    2013-01-01

    Full Text Available Clinical learning occurs in the context of a dynamic environment. Learning environment found to be one of the most important factors in determining the success of an effective teaching program. To investigate, from the attending and resident's perspective, factors that may affect student leaning in the educational hospital setting at Shiraz University of Medical Sciences (SUMS. This study combined qualitative and quantitative methods to determine factors affecting effective learning in clinical setting. Residents evaluated the perceived effectiveness of the university hospital learning environment. Fifty two faculty members and 132 residents participated in this study. Key determinants that contribute to an effective clinical teaching were autonomy, supervision, social support, workload, role clarity, learning opportunity, work diversity and physical facilities. In a good clinical setting, residents should be appreciated and given appropriate opportunities to study in order to meet their objectives. They require a supportive environment to consolidate their knowledge, skills and judgment.

  14. 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. Copyright © 2016 the American Physiological Society.

  15. Clinical neurogenetics: recent advances in the genetics of epilepsy.

    Science.gov (United States)

    Coorg, Rohini; Weisenberg, Judith L Z; Wong, Michael

    2013-11-01

    Epilepsy represents a diverse group of disorders with primary and secondary genetic etiologies, as well as non-genetic causes. As more causative genes are identified, genetic testing is becoming increasingly important in the evaluation and management of epilepsy. This article outlines the clinical approach to epilepsy patients, with emphasis on genetic testing. Specific targeted tests are available for numerous individual genetic causes of epilepsy. Broader screening tests, such as chromosome microarray analysis and whole exome sequencing, have also been developed. As a standardized protocol for genetic testing has not been established, individualized diagnostic approaches to epilepsy patients should be used. Copyright © 2013 Elsevier Inc. All rights reserved.

  16. Practical considerations to guide development of access controls and decision support for genetic information in electronic medical records

    Directory of Open Access Journals (Sweden)

    Darcy Diana C

    2011-11-01

    Full Text Available Abstract Background Genetic testing is increasingly used as a tool throughout the health care system. In 2011 the number of clinically available genetic tests is approaching 2,000, and wide variation exists between these tests in their sensitivity, specificity, and clinical implications, as well as the potential for discrimination based on the results. Discussion As health care systems increasingly implement electronic medical record systems (EMRs they must carefully consider how to use information from this wide spectrum of genetic tests, with whom to share information, and how to provide decision support for clinicians to properly interpret the information. Although some characteristics of genetic tests overlap with other medical test results, there are reasons to make genetic test results widely available to health care providers and counterbalancing reasons to restrict access to these test results to honor patient preferences, and avoid distracting or confusing clinicians with irrelevant but complex information. Electronic medical records can facilitate and provide reasonable restrictions on access to genetic test results and deliver education and decision support tools to guide appropriate interpretation and use. Summary This paper will serve to review some of the key characteristics of genetic tests as they relate to design of access control and decision support of genetic test information in the EMR, emphasizing the clear need for health information technology (HIT to be part of optimal implementation of genetic medicine, and the importance of understanding key characteristics of genetic tests when designing HIT applications.

  17. Practical considerations to guide development of access controls and decision support for genetic information in electronic medical records.

    Science.gov (United States)

    Darcy, Diana C; Lewis, Eleanor T; Ormond, Kelly E; Clark, David J; Trafton, Jodie A

    2011-11-02

    Genetic testing is increasingly used as a tool throughout the health care system. In 2011 the number of clinically available genetic tests is approaching 2,000, and wide variation exists between these tests in their sensitivity, specificity, and clinical implications, as well as the potential for discrimination based on the results. As health care systems increasingly implement electronic medical record systems (EMRs) they must carefully consider how to use information from this wide spectrum of genetic tests, with whom to share information, and how to provide decision support for clinicians to properly interpret the information. Although some characteristics of genetic tests overlap with other medical test results, there are reasons to make genetic test results widely available to health care providers and counterbalancing reasons to restrict access to these test results to honor patient preferences, and avoid distracting or confusing clinicians with irrelevant but complex information. Electronic medical records can facilitate and provide reasonable restrictions on access to genetic test results and deliver education and decision support tools to guide appropriate interpretation and use. This paper will serve to review some of the key characteristics of genetic tests as they relate to design of access control and decision support of genetic test information in the EMR, emphasizing the clear need for health information technology (HIT) to be part of optimal implementation of genetic medicine, and the importance of understanding key characteristics of genetic tests when designing HIT applications.

  18. Chilean clinic serves more than medical needs.

    Science.gov (United States)

    Blaney, C L

    1993-10-01

    The experience of staff in treating adolescent pregnancy and the formidable problems (medical, educational, nutritional, and emotional) these girls face are discussed. The implementing agency was the Centro de Medicina Reproductiva del Adolescente (CEMERA) in Santiago, Chile. One 15-year old girl is reported to have felt comfortable at CEMERA because of friendships with other similarly pregnant girls. The director, Dr. Ramiro Molina, established CEMERA with a comprehensive approach to adolescent reproductive health; there was also sex education, medical student training, and research. The program began in 1981 as a research project and included a center of 1990. Presently, CEMERA treats about 1800 low-income adolescents/year, of whom 80% are female. The problem of teenage sexuality and pregnancy was identified in a 1988 survey, which revealed that 70% of first births in the 15-24 year old age group were out of wedlock, and 20% or fewer used contraceptives at first premarital intercourse. The program currently not only provides care for adolescents, but also gives workshops and assistance to partners and parents, and contraceptive counseling to young men and women. Most services are free. There has been an increase in clinics addressing adolescent reproductive health from 2 in 1981 to more than 95 presently; most of the health personnel in the current settings have been trained by CEMERA CEMERA is located in converted row houses in central Santiago, and provides an informal setting less threatening to adolescents. The traditional white medical clothes are not used very often.

  19. Genetics of ischemic stroke: future clinical applications.

    Science.gov (United States)

    Wang, Michael M

    2006-11-01

    Ischemic stroke has long been thought to have a genetic component that is independent of conventional vascular risk factors. It has been estimated that over one half of stroke risk is determined by inherited genes. However, until recently, strong evidence of genetic influence on ischemic stroke has been subject to criticism because the risk factors for stroke are also inherited and because previous studies suffered from limitations imposed by this highly heterogeneous neurological disorder. Recent advances in molecular genetics have led to the identification of specific genetic loci that impart susceptibility to ischemic stroke. We review the studies of these genes and discuss the future potential applications of genetic markers on the management of ischemic stroke patients.

  20. 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...... in three different cross-sectional postal surveys between October 1996 and April 1998 in Finland. Target groups were physicians (study base n=772, response rate 74%, including gynaecologists, paediatricians, general practitioners and clinical geneticists), midwives and public health nurses (collectively...

  1. The Genetics of Aortopathies in Clinical Cardiology

    Directory of Open Access Journals (Sweden)

    Amit Goyal

    2017-05-01

    Full Text Available Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of the genetic causes of heritable aortopathies, rapidly clarifying their underlying molecular pathophysiology and suggesting new potential therapeutic targets. This review will summarize the pathogenetic mechanisms and management of heritable genetic aortopathies with attention to specific forms of both syndromic and nonsyndromic disorders, including Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, and familial thoracic aortic aneurysm and dissection.

  2. Fibrodysplasia Ossificans Progressiva: Clinical and Genetic Aspects

    Directory of Open Access Journals (Sweden)

    Pignolo Robert J

    2011-12-01

    Full Text Available Abstract Fibrodysplasia ossificans progressiva (FOP is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. The worldwide prevalence is approximately 1/2,000,000. There is no ethnic, racial, gender, or geographic predilection to FOP. Children who have FOP appear normal at birth except for congenital malformations of the great toes. During the first decade of life, sporadic episodes of painful soft tissue swellings (flare-ups occur which are often precipitated by soft tissue injury, intramuscular injections, viral infection, muscular stretching, falls or fatigue. These flare-ups transform skeletal muscles, tendons, ligaments, fascia, and aponeuroses into heterotopic bone, rendering movement impossible. Patients with atypical forms of FOP have been described. They either present with the classic features of FOP plus one or more atypical features [FOP plus], or present with major variations in one or both of the two classic defining features of FOP [FOP variants]. Classic FOP is caused by a recurrent activating mutation (617G>A; R206H in the gene ACVR1/ALK2 encoding Activin A receptor type I/Activin-like kinase 2, a bone morphogenetic protein (BMP type I receptor. Atypical FOP patients also have heterozygous ACVR1 missense mutations in conserved amino acids. The diagnosis of FOP is made by clinical evaluation. Confirmatory genetic testing is available. Differential diagnosis includes progressive osseous heteroplasia, osteosarcoma, lymphedema, soft tissue sarcoma, desmoid tumors, aggressive juvenile fibromatosis, and non-hereditary (acquired heterotopic ossification. Although most cases of FOP are sporadic (noninherited mutations, a small number of inherited FOP cases show germline transmission in an autosomal dominant pattern. At present, there is no definitive

  3. Medical Malpractice Implications of Clinical Practice Guidelines.

    Science.gov (United States)

    Ruhl, Douglas S; Siegal, Gil

    2017-08-01

    Clinical practice guidelines aim to improve medical care by clarifying and making useful recommendations to providers. Although providers should account for patients' unique characteristics when determining a treatment plan, it is generally perceived as good practice to follow guidelines when applicable. This is of interest in malpractice litigation, where it is essential to establish a standard of care to evaluate the performances of providers. Although the opinions of expert witnesses are used to determine standards of care, guidelines are expected to play a leading role. Guidelines alone should not establish a legal standard but may help inform this discussion in the courtroom. Therefore, it is incumbent that excellent, practical, and timely guidelines are continually created and updated in a transparent way. These guidelines must be very clear and underscore the various strengths of recommendation based on the quality of available evidence.

  4. Mass Medication Clinic (MMC) Patient Medical Assistant (PMA) System Training Initiative

    Science.gov (United States)

    2007-06-01

    AD_________________ Award Number: W81XWH-06-2-0045 TITLE: Mass Medication Clinic (MMC) Patient ...SUBTITLE 5a. CONTRACT NUMBER Mass Medication Clinic (MMC) Patient Medical Assistant (PMA) System Training Initiative 5b. GRANT NUMBER W81XWH-06-2...sections will describe the events, results, and accomplishments of this study. With validation through this project the Patient Medical Assistant

  5. [Ethic review on clinical experiments of medical devices in medical institutions].

    Science.gov (United States)

    Shuai, Wanjun; Chao, Yong; Wang, Ning; Xu, Shining

    2011-07-01

    Clinical experiments are always used to evaluate the safety and validity of medical devices. The experiments have two types of clinical trying and testing. Ethic review must be done by the ethics committee of the medical department with the qualification of clinical research, and the approval must be made before the experiments. In order to ensure the safety and validity of clinical experiments of medical devices in medical institutions, the contents, process and approval criterions of the ethic review were analyzed and discussed.

  6. 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

  7. Genetics and genomics to the clinic: a long road ahead.

    Science.gov (United States)

    Ginsburg, David

    2011-09-30

    Advances in genomic technology have produced an explosion of new information about the genetic basis for human disease, fueling extraordinarily high expectations for improved treatments. This perspective will take brief stock of what genetics/genomics have brought to clinical practice to date and what we might expect for the future. Copyright © 2011 Elsevier Inc. All rights reserved.

  8. 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.

  9. Frequency and clinical genetics of familial dilated cardiomyopathy in ...

    African Journals Online (AJOL)

    Frequency and clinical genetics of familial dilated cardiomyopathy in Cape Town: Implications for the evaluation of patients with unexplained cardiomyopathy. NBA Ntusi, A Wonkam, G Shaboodien, M Badri, BM Mayosi ...

  10. Computer knowledge amongst clinical year medical students in a ...

    African Journals Online (AJOL)

    Objective: To study the computer knowledge and desires of clinical year medical students at one of the oldest and largest medical schools in Nigeria. Design: A survey using validated structured questionnaires. Setting: Medical school of Ahmadu Bello University, Zaria, Nigeria. Subjects: Two hundred and thirty seven clinical ...

  11. Molecular genetics of hemophilia A: Clinical perspectives

    African Journals Online (AJOL)

    Azza A.G. Tantawy

    Evaluation of an individual with a suspected bleeding disorder includes: platelet count .... information for genetic counseling of at-risk family members. It is indicated for ... Patients with blood group O and a low von Willebrand antigen level have a ..... [4] Husain N. Carrier analysis for hemophilia A: ideal versus acceptable.

  12. Genetics of pulmonary hypertension in the clinic.

    Science.gov (United States)

    Girerd, Barbara; Lau, Edmund; Montani, David; Humbert, Marc

    2017-09-01

    Heritable pulmonary arterial hypertension (PAH) is an autosomal dominant disease with incomplete penetrance because of mutations in bone morphogenetic protein receptor-II (BMPR2), activin A receptor type II-like kinase 1, endoglin, caveolin-1, potassium channel subfamily K, member 3, and T-box gene 4 genes. Heritable pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD/PCH) is an autosomal recessive disease because of biallelic mutations in the eukaryotic translation initiation factor 2 alpha kinase 4 gene. The 2015 european society of cardiology (ESC) and european respiratory society (ERS) pulmonary hypertension guidelines recommend genetic counselling and testing to adults and children with PAH or PVOD/PCH as well as in adult relatives at risk of carrying a predisposing mutation. In France, genetic counseling and testing are offered to all patients displaying sporadic or familial form of PAH or PVOD/PCH and to their relatives at high risk of carrying a predisposing mutation. Patients with a heritable form of PAH are younger at diagnosis with a worse hemodynamic and a dismal prognosis. Patients with a heritable form of PVOD/PCH are younger at diagnosis with a worse response to specific PAH therapies. A program to detect PAH in an early phase was offered to all asymptomatic BMPR2 mutation carriers, according to the 2015 ESC/ERS guidelines. Finally, preimplantation genetic diagnosis has been performed in families with a history of BMPR2 mutations. Genetic counseling and testing has to be implemented in pulmonary hypertension centers.

  13. Consanguinity and its relevance to clinical genetics

    African Journals Online (AJOL)

    Rabah M. Shawky

    2013-01-29

    Jan 29, 2013 ... Autosomal dominant e.g. Marfan's syndrome and achondroplasia. ... In X-linked diseases consanguineous marriage was de- tected in all cases of ..... government should put strict laws for premarital tests. Conflict of interest .... V. Genetic contribution to high neonatally lethal malformation rate in the United ...

  14. Genetic and Clinical Characteristics of Phyllodes Tumors of the Breast

    Directory of Open Access Journals (Sweden)

    Ji-Yeon Kim

    2018-02-01

    Full Text Available PURPOSE: Phyllodes tumors (PTs of the breast are rare, accounting for less than 1% of all breast tumors. Among PTs, malignant PTs (MPTs have malignant characteristics and distant metastases occur in about 20% to 30% of MPTs. However, there is no effective treatment for MPTs with distant metastasis, resulting in an abject prognosis. We performed targeted deep sequencing on PTs to identify the associations between genetic alterations and clinical prognosis. METHODS: We performed targeted deep sequencing to evaluate the genetic characteristics of PTs and analyzed the relationships between clinical and genetic characteristics. RESULTS: A total of 17 PTs were collected between 2001 and 2012. Histologic review was performed by pathologists. The samples included three benign PTs, one borderline PT, and 13 MPTs. The most frequently detected genetic alteration occurred in the TERT promoter region (70.6%, followed by MED12 (64.7%. EGFR amplification and TP53 alteration were detected in four MPTs without genetic alterations in MED12 and TERT promoter regions. Genetic alterations of RARA and ZNF703 were repeatedly found in PTs with local recurrence, and genetic alterations of SETD2, BRCA2, and TSC1 were detected in PTs with distant metastasis. Especially, MPT harboring PTEN and RB1 copy number deletion showed rapid disease progression. CONCLUSIONS: In this study, we provide genetic characterization and potential therapeutic target for this rare, potentially lethal disease. Further large-scale comprehensive genetic study and functional validation are warranted.

  15. Hereditary hemorrhagic telangiectasia clinical and molecular genetics

    NARCIS (Netherlands)

    Letteboer, T.G.W.

    2010-01-01

    Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber (ROW) syndrome is an autosomal dominant disease characterized by vascular malformations in multiple organ systems. HHT has an age-related penetrance and variable clinical expression. The clinical symptoms are caused by direct

  16. 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)

  17. 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.

  18. Genetic susceptibility to radiations. Which impact on medical practice

    International Nuclear Information System (INIS)

    Alapetite, C.; Cosset, J. M.; Bourguignon, M. H.; Masse, R.

    2000-01-01

    Recent progress especially in the field of gene identification and expression have raised more attention on genetic susceptibility to cancer possibly enhanced by radiation. 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 radiation for better treatment of their malignant tumors. Although only a small percentage of individuals are hypersensitive to radiation effects, all medical specialists using ionising radiation should be aware of this 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 radiation. Then the main tests capable of detecting 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 this specific subset of patients suffering from a genetic disorder with a susceptibility to radiation

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

    International Nuclear Information System (INIS)

    Alapetite, C.; Cosset, J.M.; Bourguignon, M.H.; Masse, R.

    2001-01-01

    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)

  20. Attitudes of Pre-Clinical and Clinical Medical Students to Psychiatry ...

    African Journals Online (AJOL)

    Attitudes of Pre-Clinical and Clinical Medical Students to Psychiatry. ... Nigerian Hospital Practice ... Abstract. Medical training provides an environment in which proper and professional attitudes towards psychiatric patients can be acquired.

  1. 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...... the perceived relevance of medical educational activities. The results suggest that simulations can help future generations of doctors transfer new understanding of disease mechanisms gained in virtual laboratory settings into everyday clinical practice....... 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...

  2. Clinical and genetic data of Huntington disease in Moroccan patients

    African Journals Online (AJOL)

    Background: Huntington's disease (HD) occurs worldwide with prevalence varying from 0.1 to 10 /100,000 depending of the ethnic origin. Since no data is available in the Maghreb population, the aim of this study is to describe clinical and genetic characteristics of Huntington patients of Moroccan origin. Methods: Clinical ...

  3. Genetic consultation embedded in a gynecologic oncology clinic improves compliance with guideline-based care.

    Science.gov (United States)

    Senter, Leigha; O'Malley, David M; Backes, Floor J; Copeland, Larry J; Fowler, Jeffery M; Salani, Ritu; Cohn, David E

    2017-10-01

    Analyze the impact of embedding genetic counseling services in gynecologic oncology on clinician referral and patient uptake of cancer genetics services. Data were reviewed for a total of 737 newly diagnosed epithelial ovarian cancer patients seen in gynecologic oncology at a large academic medical center including 401 from 11/2011-7/2014 (a time when cancer genetics services were provided as an off-site consultation). These data were compared to data from 8/2014-9/2016 (n=336), when the model changed to the genetics embedded model (GEM), incorporating a cancer genetic counselor on-site in the gynecologic oncology clinic. A statistically significant difference in proportion of patients referred pre- and post-GEM was observed (21% vs. 44%, pgenetics consultation and post-GEM 82% were scheduled (pgenetics was also statistically significant (3.92months pre-GEM vs. 0.79months post-GEM, pgenetics consultation (2.52months pre-GEM vs. 1.67months post-GEM, pgenetic counselor on the same day as the referral. Providing cancer genetics services on-site in gynecologic oncology and modifying the process by which patients are referred and scheduled significantly increases referral to cancer genetics and timely completion of genetics consultation, improving compliance with guideline-based care. Practice changes are critical given the impact of genetic test results on treatment and familial cancer risks. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. X-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeutics

    Directory of Open Access Journals (Sweden)

    Raymond L. Rosales

    2010-10-01

    Full Text Available The clinical phenotype of X-Linked Dystonia Parkinsonism (XDP is typically one that involves a Filipino adult male whose ancestry is mostly traced in the Philippine island of Panay. Dystonia usually starts focally in the lower limbs or oromandibular regions, then spreads to become generalized eventually. Parkinsonism sets in later into the disease and usually in combination with dystonia. /DYT3/ and /TAF1/ are the two genes associated with XDP. An SVA retrotransposon insertion in an intron of /TAF1/ may reduce neuron-specific expression of the /TAF1/ isoform in the caudate nucleus, and subsequently interfere with the transcription of many neuronal genes. Polypharmacy with oral benzodiazepines, anticholinergic agents and muscle relaxants leaves much to be desired in terms of efficacy. The medications to date that may appear beneficial, especially in disabling dystonias, are zolpidem, muscle afferent block with lidocaine-ethanol and botulinum toxin type A. Despite the few cases undergoing deep brain stimulation, this functional surgery has shown the greatest promise in XDP. An illustrative case of XDP in a family depicts the variable course of illness, including a bout of “status dystonicus,” challenges in therapy, reckoning with the social impact of the disease, and eventual patient demise. Indeed, there remains some gaps in understanding some phenomenological, genetic and treatment aspects of XDP, the areas upon which future research directions may be worthwhile.

  5. Evaluation Apprehension and Impression Management in Clinical Medical Education.

    Science.gov (United States)

    McGaghie, William C

    2018-05-01

    Historically, clinical medical education has relied on subjective evaluations of students and residents to judge their clinical competence. The uncertainty associated with these subjective clinical evaluations has produced evaluation apprehension among learners and attempts to manage one's professional persona (impression management) among peers and supervisors. Such behavior has been documented from antiquity through the Middle Ages to the present, including in two new qualitative studies in this issue of Academic Medicine on the social psychology of clinical medical education. New approaches to medical education, including competency-based education, mastery learning, and assessment methods that unite evaluation and education, are slowly changing the culture of clinical medical education. The author of this Invited Commentary argues that this shift will bring greater transparency and accountability to clinical medical education and gradually reduce evaluation apprehension and the impression management motives it produces.

  6. The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

    OpenAIRE

    Boycott, Kym; Hartley, Taila; Adam, Shelin; Bernier, Francois; Chong, Karen; Fernandez, Bridget A; Friedman, Jan M; Geraghty, Michael T; Hume, Stacey; Knoppers, Bartha M; Laberge, Anne-Marie; Majewski, Jacek; Mendoza-Londono, Roberto; Meyn, M Stephen; Michaud, Jacques L

    2015-01-01

    Purpose and scope The aim of this Position Statement is to provide recommendations for Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other physicians regarding the use of genome-wide sequencing of germline DNA in the context of clinical genetic diagnosis. This statement has been developed to facilitate the clinical translation and development of best practices for clinical genome-wide sequencing for genetic diagnosis of monogenic diseases in Canada; it...

  7. The Medical Ethics of Clinical Therapeutic Trials*

    African Journals Online (AJOL)

    carried out to advance knowledge, but from which the subject cannot be expected to receive any direct personal benefit. The Judicial Code of the American Medical Association' laid down only three requirements for human experimen- tation, to conform to its medical ethics. They are (i) the voluntary consent of the person on ...

  8. Muscle MRI in pediatrics: clinical, pathological and genetic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Cejas, Claudia P.; Serra, Maria M.; Galvez, David F.G. [Foundation for Neurological Research Dr. Raul Carrea (FLENI), Radiology Department, Buenos Aires (Argentina); Cavassa, Eliana A.; Vazquez, Gabriel A.; Massaro, Mario E.L.; Schteinschneider, Angeles V. [Foundation for Neurological Research Dr. Raul Carrea (FLENI), Department of Neuropediatrics, Buenos Aires (Argentina); Taratuto, Ana L. [Foundation for Neurological Research Dr. Raul Carrea (FLENI), Neuropathology Consultant, Buenos Aires (Argentina)

    2017-05-15

    Pediatric myopathies comprise a very heterogeneous group of disorders that may develop at different ages and affect different muscle groups. Its diagnosis is sometimes difficult and must be confirmed by muscle biopsy and/or genetic analysis. In recent years, muscle involvement patterns observed on MRI have become a valuable tool, aiding clinical diagnosis and enriching pathological and genetic assessments. We selected eight myopathy cases from our institutional database in which the pattern of muscle involvement observed on MRI was almost pathognomonic and could therefore contribute to establishing diagnosis. Muscle biopsy, genetic diagnosis or both confirmed all cases. (orig.)

  9. Muscle MRI in pediatrics: clinical, pathological and genetic correlation

    International Nuclear Information System (INIS)

    Cejas, Claudia P.; Serra, Maria M.; Galvez, David F.G.; Cavassa, Eliana A.; Vazquez, Gabriel A.; Massaro, Mario E.L.; Schteinschneider, Angeles V.; Taratuto, Ana L.

    2017-01-01

    Pediatric myopathies comprise a very heterogeneous group of disorders that may develop at different ages and affect different muscle groups. Its diagnosis is sometimes difficult and must be confirmed by muscle biopsy and/or genetic analysis. In recent years, muscle involvement patterns observed on MRI have become a valuable tool, aiding clinical diagnosis and enriching pathological and genetic assessments. We selected eight myopathy cases from our institutional database in which the pattern of muscle involvement observed on MRI was almost pathognomonic and could therefore contribute to establishing diagnosis. Muscle biopsy, genetic diagnosis or both confirmed all cases. (orig.)

  10. Clinical Challenges in the Growing Medical Marijuana Field.

    Science.gov (United States)

    Barker, Jonathan

    2018-02-02

    Unique clinical challenges arise with the growing number of patients who possess medical marijuana cards. Medical marijuana patients with mental disorders can have worsening symptoms with marijuana use. Often there is sparse continuity of care between the patient and the medical marijuana practitioner. Lack of communication between the patient's treating practitioners and the practitioner who has authorized the medical marijuana can be problematic. This article is a discussion of the new clinical challenges practitioners are likely to encounter with the growing number of medical marijuana patients. [Full article available at http://rimed.org/rimedicaljournal-2018-02.asp].

  11. Third-year medical students' and clinical teachers' perceptions of ...

    African Journals Online (AJOL)

    Background. Clinical skills training in the clinical skills laboratory (CSL) environment forms an important part of the undergraduate medical curriculum. These skills are better demonstrated than described. A lack of direct observation and feedback given to medical students performing these skills has been reported. Without ...

  12. Hamartomatous polyps - a clinical and molecular genetic study

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie

    2016-01-01

    the knowledge on clinical course and molecular genetics in patients with HPs and HPS, and to investigate research participants' attitude towards the results of extensive genetic testing. Paper I: In the first paper we investigated the occurrence, anatomic distribution, and other demographics of juvenile polyps...... appearance. Patients with one or a few juvenile polyps are usually not offered clinical follow-up as the polyp(s) are considered not to harbour any malignant potential. Nevertheless, it is important to note that juvenile polyps and HPs are also found in patients with hereditary hamartomatous polyposis......-Jeghers syndrome, and the PTEN hamartoma tumour syndrome. Currently, the HPS diagnoses are based on clinical criteria and are often assisted with genetic testing as candidate genes have been described for each syndrome. This thesis is based on six scientific papers. The overall aim of the studies was to expand...

  13. [Genetics factors in pathogenesis and clinical genetics of binge eating disorder].

    Science.gov (United States)

    Kibitov, А О; Мazo, G E

    2016-01-01

    Genetic studies have shown that binge eating disorder (ВЕD) aggregates in families, heritability was estimated as about 60% and additive genetic influences on BED up to 50%. Using a genetic approach has proved useful for verifying the diagnostic categories of BED using DSM-IV criteria and supporting the validity of considering this pathology as a separate nosological category. The results confirmed the genetic and pathogenic originality of BED as a separate psychopathological phenomenon, but not a subtype of obesity. It seems fruitful to considerate BED as a disease with hereditary predisposition with significant genetic influence and a complex psychopathological syndrome, including not only eating disorders, but also depressive and addictive component. A possible mechanism of pathogenesis of BED may be the interaction of the neuroendocrine and neurotransmitters systems including the active involvement of the reward system in response to a variety of chronic stress influences with the important modulatory role of specific personality traits. The high level of genetic influence on the certain clinical manifestations of BED confirms the ability to identify the subphenotypes of BED on genetic basis involving clinical criteria. It can not only contribute to further genetic studies, taking into account more homogeneous samples, but also help in finding differentiated therapeutic approaches.

  14. Medical Genetics at McGill: The History of a Pioneering Research Group.

    Science.gov (United States)

    Canning, Christopher; Weisz, George; Tone, Andrea; Cambrosio, Alberto

    2013-01-01

    The McGill Group in Medical Genetics was formed in 1972, supported by the Medical Research Council and successor Canadian Institutes for Health Research until September 2009, making it the longest active biomedical research group in the history of Canada. We document the history of the McGill Group and situate its research within a broader history of medical genetics. Drawing on original oral histories with the Group's members, surviving documents, and archival materials, we explore how the Group's development was structured around epistemological trends in medical genetics, policy choices made by research agencies, and the development of genetics at McGill University and its hospitals.

  15. DataGenno: building a new tool to bridge molecular and clinical genetics

    Directory of Open Access Journals (Sweden)

    Fabricio F Costa

    2011-03-01

    Full Text Available Fabricio F Costa1,2, Luciano S Foly1, Marcelo P Coutinho11DataGenno Interactive Research Ltd., Itaperuna, Rio de Janeiro, Brazil; 2Cancer Biology and Epigenomics Program, Children's Memorial Research Center, Northwestern University's Feinberg School of Medicine, Chicago, IL, USAAbstract: Clinical genetics is one of the most challenging fields in medicine, with thousands of children born every year with congenital defects that have no satisfactory diagnosis. There are more than 6,000 known single-gene disorders that can cause birth defects or diseases in approximately 1 in every 200 births. Clinical and molecular information on genetic diseases and syndromes are widespread in the literature, and there are few databases combining this information. Therefore, it is very challenging for health care professionals and researchers to translate the latest advances in science and medicine into effective clinical interventions and new treatments. In order to overcome this obstacle and promote networking, we are building DataGenno, an online medical and scientific portal. DataGenno has been developed to be a source of information on genetic diseases and syndromes for the needs of all heath care professionals and researchers. Our database will be able to integrate both clinical and molecular aspects of genetic diseases in a fully interactive environment. DataGenno’s system already contains clinical and molecular information for 300 diseases, with approximately 6,000 signs and symptoms of these diseases in a database combined with a search engine. Our main goal is to cover all genetic diseases described to date, providing not only clinical information such as morphological and anatomical features but also the most comprehensive molecular genetics/genomics features and available testing information. We are also developing ways to connect DataGenno’s portal with Electronic Health Records in order to improve the efficiency of patient care. Additionally

  16. Medical simulation-based education improves medicos' clinical skills.

    Science.gov (United States)

    Wang, Zhaoming; Liu, Qiaoyu; Wang, Hai

    2013-03-01

    Clinical skill is an essential part of clinical medicine and plays quite an important role in bridging medicos and physicians. Due to the realities in China, traditional medical education is facing many challenges. There are few opportunities for students to practice their clinical skills and their dexterities are generally at a low level. Medical simulation-based education is a new teaching modality and helps to improve medicos' clinical skills to a large degree. Medical simulation-based education has many significant advantages and will be further developed and applied.

  17. Clinical Genetic Aspects of ASD Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    G. Bradley Schaefer

    2016-01-01

    Full Text Available Early presumptions opined that autism spectrum disorder (ASD was related to the rearing of these children by emotionally-distant mothers. Advances in the 1960s and 1970s clearly demonstrated the biologic basis of autism with a high heritability. Recent advances have demonstrated that specific etiologic factors in autism spectrum disorders can be identified in 30%–40% of cases. Based on early reports newer, emerging genomic technologies are likely to increase this diagnostic yield to over 50%. To date these investigations have focused on etiologic factors that are largely mono-factorial. The currently undiagnosed causes of ASDs will likely be found to have causes that are more complex. Epigenetic, multiple interacting loci, and four dimensional causes (with timing as a variable are likely to be associated with the currently unidentifiable cases. Today, the “Why” is more important than ever. Understanding the causes of ASDs help inform families of important issues such as recurrence risk, prognosis, natural history, and predicting associated co-morbid medical conditions. In the current era of emerging efforts in “personalized medicine”, identifying an etiology will be critical in identifying endo-phenotypic groups and individual variations that will allow for tailored treatment for persons with ASD.

  18. Nuclear medical approaches to clinical research

    International Nuclear Information System (INIS)

    Otte, Andreas; Nguyen, Tristan

    2009-01-01

    In the frame of the master course Clinical research management at the scientific college Lahr in cooperation with the Albert-Ludwigs-University Freiburg three contributions are presented: Functional imaging - supported clinical studies in the sleep research. A comparison of NMR imaging versus SPECT and PET (advantages and disadvantages). Clinical studies with ionizing radiation and the radiation fear of the public. The new radioimmunotherapeutic agent Zevalin and the challenges at the market.

  19. Clinical Inertia and Outpatient Medical Errors

    National Research Council Canada - National Science Library

    O'Connor, Patrick J; Sperl-Hillen, JoAnn M; Johnson, Paul E; Rush, William A; Biltz, George

    2005-01-01

    .... Clinical inertia is a major factor that contributes to inadequate chronic disease care in patients with diabetes mellitus, hypertension, dyslipidemias, depression, coronary heart disease, and other conditions...

  20. Genetic variability of genital mycoplasmas and its clinical value

    Directory of Open Access Journals (Sweden)

    K. I. Plakhova

    2015-01-01

    Full Text Available The article presents data on genetic variability of genital mycoplasmas. The author presents the results of genetic variability studies for M. hominis, gene vaa, U. parvum, gene mba, and M. genitalium, gene mg192, sampled from women with different clinical manifestations of inflammatory diseases of the urogenital system. Based on the molecular typing results for 138 samples of genital mycoplasmas, the author revealed a relationship between clinical manifestations of inflammatory diseases of the urogenital system caused by U. parvum and different U. parvum serovars as well as different genetic variations of M. hominis.Infection with 6 U. parvum serovar results in the development of inflammatory diseases of the urogenital tract accompanied by subjective manifestations (р < 0.05. Genetic variant II of М. hominis was revealed more often in patients with clinical manifestations of inflammatory diseases while variant I was revealed more often in patients infected with М. hominis without any signs of inflammation (р < 0.05. Genetic variants of M. genitalium were determined; no significant differences in terms of their prevalence in the examined patients were revealed.

  1. Genetic Epidemiology, Hematological and Clinical Features of Hemoglobinopathies in Iran

    OpenAIRE

    Rahimi, Zohreh

    2013-01-01

    There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the ?-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah (western Iran) provinces, respectively. Also, ? -chain variants of Hb Q-Iran and Hb Setif are prevalent in western Iran. The molecular basis and clinical severity of thalassemias are extremely heterogenous among Iran...

  2. A Clinical and Genetic Review of Aniridia

    Directory of Open Access Journals (Sweden)

    Reza Jafari

    2015-07-01

    Full Text Available Aniridia is a congenital pan-ocular, bilateral disorder. The term aniridia is a misleading misnomer, since at least a rudimentary iris is always present. Varied forms range from almost total absence to only mild hypoplasia of the iris. It is inherent in a number of syndromes, including Wilms tumor Aniridia-Genital anomalies-retardation (WAGR. Aniridia has been shown to be associated with mutations in the PAX6 gene, located on chromosome 11p13, telomeric to the Wilms’ tumor predisposition gene (WT1. The pair box gene 6 (PAX6 situated at 11p13 has been confirmed to be the leading gene associated with aniridia. The PAX6 mutation is present in individuals worldwide and has been studied in Indian, Malaysian, Chinese and Mexican families. Several categories of PAX6 mutations include: nonsense mutations, splicing mutations, frameshift mutations (deletion or insertion, in-frame insertion or deletion, missense mutations and run-on mutations. A novel de novo frameshift mutation in PAX6 most possibly occurred in the paternal gamete. Mutation in PAX6 brings about amino acid substitution for instance proline to glutamine. Deletion of 11p13 involves the PAX6 (aniridia locus and the adjacent WT1 (Wilms tumor locus. Haploinsufficiency at the PAX6 locus brings on aniridia, a pan-ocular eye condition characterized by iris hypoplasia and various other anterior and posterior eye defects, subtle hypogonadotropic hypogonadism and borderline Growth Hormone (GH deficiency. Aniridia may also be affiliated with retinal tears and detachments. Electroretinograms (ERGs done in aniridia illustrate definite retinal dysfunction. Other clinical aspects related to aniridia are ptosis with reduced levator function and anterior polar cataracts. The PAX6 gene mutation was also associated with early-onset diabetes mellitus and aniridia. Aniridia combined with zonular cataract and polydactyly was also described in a patient with Bardet-Biedl syndrome. Aniridia with sensorineural

  3. Genetic characteristics of Japanese clinical Listeria monocytogenes isolates.

    Directory of Open Access Journals (Sweden)

    Satoko Miya

    Full Text Available Listeria monocytogenes causes foodborne illnesses through consumption of ready-to-eat foods. Although 135-201annual listeriosis cases have been estimated in Japan, the details regarding the clinical isolates such as infection source, virulence level, and other genetic characteristics, are not known. In order to uncover the trends of listeriosis in Japan and use the knowledge for prevention measures to be taken, the genetic characteristics of the past human clinical isolates needs to be elucidated. For this purpose, multilocus tandem-repeat sequence analysis (MLTSA and multi-virulence-locus sequence typing (MVLST were used in this study. The clinical isolates showed a variety of genetically distant genotypes, indicating they were from sporadic cases. However, the MVLST profiles of 7 clinical isolates were identical to those of epidemic clone (EC I isolates, which have caused several serious outbreaks in other countries, suggesting the possibility that they have strong virulence potential and originated from a single outbreak. Moreover, 6 Japanese food isolates shared their genotypes with ECI isolates, indicating that there may be risks for listeriosis outbreak in Japan. This is the first investigational study on genetic characteristics of Japanese listeriosis isolates. The listeriosis cases happened in the past are presumably sporadic, but it is still possible that some isolates with strong virulence potential have caused listeriosis outbreaks, and future listeriosis risks also exist.

  4. Molecular genetics of hemophilia A: Clinical perspectives | Tantawy ...

    African Journals Online (AJOL)

    Since the publication of the sequence of the factor VIII (F8) gene in 1984, a large number of mutations that cause hemophilia A have been identified and a significant progress has been made in translating this knowledge for clinical diagnostic and therapeutic purposes. Molecular genetic testing is used to determine the ...

  5. Clinical and genetic characterization of six cases with complete ...

    Indian Academy of Sciences (India)

    The clinical examinations such as sex hormone test and B ultrasound were performed and the genetic characterization of patients were evaluated by karyotype analysis, polymerase chain reaction and DNA sequencing. The six cases with 46, XY karyotype were diagnosed with CAIS and four novel AR mutations were ...

  6. Clinical and genetic aspects of testicular germ cell tumours

    NARCIS (Netherlands)

    Holzik, Martijn F. Lutke; Sijmons, Rolf H.; Hoekstra-Weebers, Josette E. H. M.; Sleijfer, Dirk Th.; Hoekstra, Harald J.

    2008-01-01

    In this paper we review clinical and genetic aspects of testicular germ cell tumours (TGCTs). TGCT is the most common type of malignant disorder in men aged 15-40 years. Its incidence has increased sharply in recent years. Fortunately, survival of patients with TGCT has improved enormously, which

  7. Moyamoya disease and syndromes: from genetics to clinical management

    Directory of Open Access Journals (Sweden)

    Guey S

    2015-02-01

    . Revascularization surgery can be indicated, with several techniques. Characteristics of genetic moyamoya syndromes are presented, with a focus on recently reported mutations in BRCC3/MTCP1 and GUCY1A3 genes. Identification of the genes involved in moyamoya disease and several monogenic moyamoya syndromes unraveled different pathways involved in the development of this angiopathy. Studying genes and pathways involved in monogenic moyamoya syndromes may help to give insights into pathophysiological models and discover potential candidates for medical treatment strategies. Keywords: moyamoya disease, moyamoya syndrome, stroke, surgical revascularization, genetics

  8. Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

    Science.gov (United States)

    Seys, Elsa; Andrini, Olga; Keck, Mathilde; Mansour-Hendili, Lamisse; Courand, Pierre-Yves; Simian, Christophe; Deschenes, Georges; Kwon, Theresa; Bertholet-Thomas, Aurélia; Bobrie, Guillaume; Borde, Jean Sébastien; Bourdat-Michel, Guylhène; Decramer, Stéphane; Cailliez, Mathilde; Krug, Pauline; Cozette, Paul; Delbet, Jean Daniel; Dubourg, Laurence; Chaveau, Dominique; Fila, Marc; Jourde-Chiche, Noémie; Knebelmann, Bertrand; Lavocat, Marie-Pierre; Lemoine, Sandrine; Djeddi, Djamal; Llanas, Brigitte; Louillet, Ferielle; Merieau, Elodie; Mileva, Maria; Mota-Vieira, Luisa; Mousson, Christiane; Nobili, François; Novo, Robert; Roussey-Kesler, Gwenaëlle; Vrillon, Isabelle; Walsh, Stephen B; Teulon, Jacques; Blanchard, Anne; Vargas-Poussou, Rosa

    2017-08-01

    Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene ( CLCNKB ), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. To study phenotype/genotype correlations, we performed genetic analyses by direct sequencing and multiplex ligation-dependent probe amplification and retrospectively analyzed medical charts for 115 patients with CLCNKB mutations. Functional analyses were performed in Xenopus laevis oocytes for eight missense and two nonsense mutations. We detected 60 mutations, including 27 previously unreported mutations. Among patients, 29.5% had a phenotype of ante/neonatal Bartter syndrome (polyhydramnios or diagnosis in the first month of life), 44.5% had classic Bartter syndrome (diagnosis during childhood, hypercalciuria, and/or polyuria), and 26.0% had Gitelman-like syndrome (fortuitous discovery of hypokalemia with hypomagnesemia and/or hypocalciuria in childhood or adulthood). Nine of the ten mutations expressed in vitro decreased or abolished chloride conductance. Severe (large deletions, frameshift, nonsense, and essential splicing) and missense mutations resulting in poor residual conductance were associated with younger age at diagnosis. Electrolyte supplements and indomethacin were used frequently to induce catch-up growth, with few adverse effects. After a median follow-up of 8 (range, 1-41) years in 77 patients, chronic renal failure was detected in 19 patients (25%): one required hemodialysis and four underwent renal transplant. In summary, we report a genotype/phenotype correlation for Bartter syndrome type 3: complete loss-of-function mutations associated with younger age at diagnosis, and CKD was observed in all phenotypes. Copyright © 2017 by the American Society of Nephrology.

  9. Human genetics after the bomb: Archives, clinics, proving grounds and board rooms.

    Science.gov (United States)

    Lindee, Susan

    2016-02-01

    In this paper I track the history of post-1945 human genetics and genomics emphasizing the importance of ideas about risk to the scientific study and medical management of human heredity. Drawing on my own scholarship as it is refracted through important new work by other scholars both junior and senior, I explore how radiation risk and then later disease risk mattered to the development of genetics and genomics, particularly in the United States. In this context I excavate one of the central ironies of post-war human genetics: while studies of DNA as the origin and cause of diseases have been lavishly supported by public institutions and private investment around the world, the day-to-day labor of intensive clinical innovation has played a far more important role in the actual human experience of genetic disease and genetic risk for affected families. This has implications for the archival record, where clinical interactions are less readily accessible to historians. This paper then suggests that modern genomics grew out of radiation risk; that it was and remains a risk assessment science; that it is temporally embedded as a form of both prediction and historical reconstruction; and that it has become a big business focused more on risk and prediction (which can be readily marketed) than on effective clinical intervention. Copyright © 2015 Elsevier Ltd. All rights reserved.

  10. Clinical Investigation Program (Tripler Army Medical Center)

    Science.gov (United States)

    1991-10-01

    8217 I have learned an immense amount during this last year. Clinicians have no idea of the real world of medical research, finance, and politics. We (I...91. 10 Pfanner TP, Person DA, Berenberg JL, Lockett LJ: Eosinophilia Myalgia Syndrome: A Case Report and One Year Follow-Up. American College of ...protocol as yet. This is a non therapeutic study designed to gather epidemiologic and late effects data on long term (>Syrs) survivors of Wilms’ tumor

  11. Medical genetic services in Latin America: report of a meeting of experts

    Directory of Open Access Journals (Sweden)

    Penchaszadeh Víctor B

    1998-01-01

    Full Text Available During the Ninth International Congress of Human Genetics which was held in Rio de Janeiro, Brazil, from 16 to 18 August 1996, a group of experts under the coordination of the authors discussed at length the state of medical genetics in Latin America. The facts and ideas presented at the meeting, which was sponsored by the Human Genetics Program of the World Health Organization (WHO and the Maternal and Child Health Program of the Pan American Health Organization, are examined in this document under three broad headings. The first verses on the history and current status of medical genetics in selected Latin American countries. This is followed by a discussion of the general features of medical genetics in the Region and by a final section of recommendations for promoting medical genetics in Latin America.

  12. Importance of Pharmaceutical Training and Clinical Research at Medical Facilities.

    Science.gov (United States)

    Myotoku, Michiaki

    2017-01-01

    To respond to advancements in medical techniques, and to address the separation of medical and dispensary practices, clinical professors are required to educate human resource staff to become highly-skilled pharmacists. For this purpose, it is extremely important for these professors to learn about cutting-edge practical skills and knowledge, as well as to advance their expertise. In addition, they need to conduct clinical research in cooperation with relevant facilities. As our university does not have its own hospital or pharmacy, it is important to provide training for clinical professors in clinical facilities. Such training mainly involves medical teams' in-hospital rounds and participation in conferences (nutrition support team; NST), operation of the pharmacy department, and intervention targeting improvement in the department's duties. We have conducted collaborative studies, provided research instructions, implemented studies aimed at improving the department's work (pharmacists appointed on wards at all times to ensure medical safety) as well as studies regarding team medical care (nutritional evaluation during outpatient chemotherapy), and resolved issues regarding this work (drug solution mixability in a hand-held constant infusion pump, and a safe pump-filling methods). Thus, it has become possible to keep track of the current state of a pharmacists' work within team medical care, to access information about novel drugs, to view clinical and prescription-claim data, to cooperate with other professionals (e.g., doctors and nurses), to promote pharmacists' self-awareness of their roles in cooperative medical practice, and to effectively maintain the hospital's clinical settings.

  13. Genetics of liver disease: From pathophysiology to clinical practice.

    Science.gov (United States)

    Karlsen, Tom H; Lammert, Frank; Thompson, Richard J

    2015-04-01

    Paralleling the first 30 years of the Journal of Hepatology we have witnessed huge advances in our understanding of liver disease and physiology. Genetic advances have played no small part in that. Initial studies in the 1970s and 1980s identified the strong major histocompatibility complex associations in autoimmune liver diseases. During the 1990 s, developments in genomic technologies drove the identification of genes responsible for Mendelian liver diseases. Over the last decade, genome-wide association studies have allowed for the dissection of the genetic susceptibility to complex liver disorders, in which also environmental co-factors play important roles. Findings have allowed the identification and elaboration of pathophysiological processes, have indicated the need for reclassification of liver diseases and have already pointed to new disease treatments. In the immediate future genetics will allow further stratification of liver diseases and contribute to personalized medicine. Challenges exist with regard to clinical implementation of rapidly developing technologies and interpretation of the wealth of accumulating genetic data. The historical perspective of genetics in liver diseases illustrates the opportunities for future research and clinical care of our patients. Copyright © 2015 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.

  14. Identifying mental health services in clinical genetic settings.

    Science.gov (United States)

    Cappelli, M; Esplen, M J; Wilson, B J; Dorval, M; Bottorff, J L; Ly, M; Carroll, J C; Allanson, J; Humphreys, E; Rayson, D

    2009-10-01

    The purpose of this study was to examine the mental health needs of individuals at risk for adult onset hereditary disorder (AOHD) from the perspective of their genetic service providers, as it is unknown to what extent psychosocial services are required and being met. A mail-out survey was sent to 281 providers on the membership lists of the Canadian Association of Genetic Counsellors and the Canadian College of Medical Geneticists. The survey assessed psychosocial issues that were most commonly observed by geneticists, genetic counsellors (GCs), and nurses as well as availability and types of psychosocial services offered. Of the 129 respondents, half of genetic service providers reported observing signs of depression and anxiety, while 44% noted patients' concerns regarding relationships with family and friends. In terms of providing counselling to patients, as the level of psychological risk increased, confidence in dealing with these issues decreased. In addition, significantly more GCs reported that further training in psychosocial issues would be most beneficial to them if resources were available. As a feature of patient care, it is recommended that gene-based predictive testing include an integrative model of psychosocial services as well as training for genetic service providers in specific areas of AOHD mental health.

  15. 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.

  16. Nanophthalmos: A Review of the Clinical Spectrum and Genetics

    Directory of Open Access Journals (Sweden)

    Pedro C. Carricondo

    2018-01-01

    Full Text Available Nanophthalmos is a clinical spectrum of disorders with a phenotypically small but structurally normal eye. These disorders present significant clinical challenges to ophthalmologists due to a high rate of secondary angle-closure glaucoma, spontaneous choroidal effusions, and perioperative complications with cataract and retinal surgeries. Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance. To date, five genes (i.e., MFRP, TMEM98, PRSS56, BEST1, and CRB1 and two loci have been implicated in familial forms of nanophthalmos. Here, we review the definition of nanophthalmos, the clinical and pathogenic features of the condition, and the genetics of this disorder.

  17. Genetic Contributions to Clinical Pain and Analgesia: Avoiding Pitfalls in Genetic Research

    Science.gov (United States)

    Kim, Hyungsuk; Clark, David; Dionne, Raymond A.

    2010-01-01

    Understanding the genetic basis of human variations in pain is critical to elucidating the molecular basis of pain sensitivity, variable responses to analgesic drugs, and, ultimately, to individualized treatment of pain and improved public health. With the help of recently accumulated knowledge and advanced technologies, pain researchers hope to gain insight into genetic mechanisms of pain and eventually apply this knowledge to pain treatment. Perspective We critically reviewed the published literature to examine the strength of evidence supporting genetic influences on clinical and human experimental pain. Based on this evidence and the experience of false associations that have occurred in other related disciplines, we provide recommendations for avoiding pitfalls in pain genetic research. PMID:19559388

  18. medical students' preference for choice of clinical specialties

    African Journals Online (AJOL)

    Zamzar

    This study seeks to determine the medical student preference for the clinical specialty and the factors that they consider in making ... undergraduates in selecting these specialties is important. .... effect of National Health Insurance on changes.

  19. Clinical simulation training improves the clinical performance of Chinese medical students

    Directory of Open Access Journals (Sweden)

    Ming-ya Zhang

    2015-10-01

    Full Text Available Background: Modern medical education promotes medical students’ clinical operating capacity rather than the mastery of theoretical knowledge. To accomplish this objective, clinical skill training using various simulations was introduced into medical education to cultivate creativity and develop the practical ability of students. However, quantitative analysis of the efficiency of clinical skill training with simulations is lacking. Methods: In the present study, we compared the mean scores of medical students (Jinan University who graduated in 2013 and 2014 on 16 stations between traditional training (control and simulative training groups. In addition, in a clinical skill competition, the objective structured clinical examination (OSCE scores of participating medical students trained using traditional and simulative training were compared. The data were statistically analyzed and qualitatively described. Results: The results revealed that simulative training could significantly enhance the graduate score of medical students compared with the control. The OSCE scores of participating medical students in the clinical skill competition, trained using simulations, were dramatically higher than those of students trained through traditional methods, and we also observed that the OSCE marks were significantly increased for the same participant after simulative training for the clinical skill competition. Conclusions: Taken together, these data indicate that clinical skill training with a variety of simulations could substantially promote the clinical performance of medical students and optimize the resources used for medical education, although a precise analysis of each specialization is needed in the future.

  20. Introduction of an automated medical record at an HMO clinic.

    Science.gov (United States)

    Churgin, P G

    1994-01-01

    In May 1993, CIGNA Healthcare of Arizona implemented a comprehensive automated medical record system in a pilot project performed at a primary care clinic in Chandler, Arizona. The system, EpicCare, operates in a client-server environment and completely replaces the paper chart in all phases of medical care. After six months of use by 10 medical providers and a 50-member staff, the system has been approved by clinicians, staff, and patients.

  1. Japanese Society of Medical Oncology Clinical Guidelines: Molecular Testing for Colorectal Cancer Treatment, Third Edition.

    Science.gov (United States)

    Yamazaki, Kentaro; Taniguchi, Hiroya; Yoshino, Takayuki; Akagi, Kiwamu; Ishida, Hideyuki; Ebi, Hiromichi; Nakatani, Kaname; Muro, Kei; Yatabe, Yasushi; Yamaguchi, Kensei; Tsuchihara, Katsuya

    2018-06-01

    The Japanese Society of Medical Oncology (JSMO) previously published 2 editions of the clinical guidelines: "Japanese guidelines for testing of KRAS gene mutation in colorectal cancer" in 2008 and "Japanese Society of Medical Oncology Clinical Guidelines: RAS (KRAS/NRAS) mutation testing in colorectal cancer patients" in 2014. These guidelines have contributed to the proper use of KRAS and RAS mutation testing, respectively. Recently, clinical utility, particularly for colorectal cancer (CRC) patients with BRAF V600E mutation or DNA mismatch-repair (MMR) deficiency, has been established. Therefore, the guideline members decided these genetic alterations should also be involved. The aim of this revision is to properly carry out testing for BRAF V600E mutation and MMR deficiency in addition to RAS mutation. The revised guidelines include the basic requirements for testing for these genetic alterations based on recent scientific evidence. Furthermore, because clinical utility of comprehensive genetic testing using next-generation sequencing and somatic gene testing of analyzing circulating tumor DNA has increasingly evolved with recent advancements in testing technology, we noted the current situation and prospects for these testing technologies and their clinical implementation in the revised guidelines. © 2018 The Authors. Cancer Science published by John Wiley & Sons Australia, Ltd on behalf of Japanese Cancer Association.

  2. 59th Medical Wing Clinical Research Division Clinical Investigations Program Pathology Poster

    Science.gov (United States)

    2017-04-28

    59 MDW/SGVU SUBJECT: Professional Presentation Approval 1. Your paper, entitled 59th Medical Wing Clinical Research Division Clinical Investigations...Program Pathology Poster presented at/published to For hanging in a hallway of the 591h Medical Wing Clinical Research Division, Bldg 4430 in...Graduate Health Sciences Education student and your department has told you they cannot fund your publication, the 59th Clinical Research Division may

  3. Clinical guidelines and the fate of medical autonomy in Ontario.

    Science.gov (United States)

    Rappolt, S G

    1997-04-01

    Conceptually, clinical guidelines and professional autonomy have a paradoxical relationship. Despite being the quintessence of medical knowledge at the corporate level, guidelines diminish the clinical autonomy of individual practitioners, and therefore threaten medicine's justification for its autonomy. Theorists have argued that professional autonomy will be retained through elite dominance of practitioners, while comparative research suggests that economic autonomy can be traded off to retain clinical autonomy. Under government pressure to regulate the growth of Ontario physicians' fee-for-service public expenditure, the profession's representative organization, the Ontario Medical Association (OMA), promoted voluntary clinical guidelines, hoping to both constrain costs and preserve professional control over the content of medical care. The OMA collaborated with the Ministry of Health in developing guidelines and establishing a provincial centre for health service research. Ontario's practitioners disregarded the OMA's exhortations to implement clinical guidelines, suggesting that in the absence of external constraints, practitioners can subvert elite dominance. However, practitioners' unchecked clinical and economic autonomy, combined with evidence of wide provincial variations in medical care, served to legitimize the government's increasingly unilateral control over the schedule of insured medical services, and, in 1993, their imposition of a global cap on physicians' fee-for-service income pool. When analysed in the context of ongoing Ministry-OMA relations, the failure of the OMA's guidelines strategy to constrain medical service costs has expedited an overall decline in medical autonomy in Ontario. The emergence and course of Ontario's clinical guidelines movement is consistent with the view that medical autonomy is contingent upon broad class forces, and the conceptualization of professional organizations as instruments for mediated occupational control.

  4. Clinical Training of Medical Physicists Specializing in Nuclear Medicine

    International Nuclear Information System (INIS)

    2011-01-01

    The application of radiation in human health, for both diagnosis and treatment of disease, is an important component of the work of the IAEA. The responsibility for the increasingly technical aspects of this work is undertaken by the medical physicist. To ensure good practice in this vital area, structured clinical training programmes are required to complement academic learning. This publication is intended to be a guide to the practical implementation of such a programme for nuclear medicine. There is a general and growing awareness that radiation medicine is increasingly dependent on well trained medical physicists who are based in a clinical setting. However an analysis of the availability of medical physicists indicates a large shortfall of qualified and capable professionals. This is particularly evident in developing countries. While strategies to increase educational opportunities are critical to such countries, the need for guidance on structured clinical training was recognized by the members of the Regional Cooperative Agreement for Research, Development and Training related to Nuclear Science and Technology (RCA) for the Asia-Pacific region. Consequently, a technical cooperation regional project (RAS6038) under the RCA programme was formulated to address this need in this region by developing suitable material and establishing its viability. Development of a clinical training guide for medical physicists specialising in nuclear medicine was started in 2009 with the appointment of a core drafting committee of regional and international experts. The publication drew on the experience of clinical training in Australia, Croatia and Sweden and was moderated by physicists working in the Asian region. The present publication follows the approach of earlier IAEA publications in the Training Course Series, specifically Nos 37 and 47, Clinical Training of Medical Physicists Specializing in Radiation Oncology and Clinical Training of Medical Physicists

  5. PAX6 aniridia syndrome: clinics, genetics, and therapeutics.

    Science.gov (United States)

    Lim, Hyun Taek; Kim, Dae Hee; Kim, Hyuna

    2017-09-01

    Aniridia is a rare and panocular disorder affecting most of the ocular structures which may have significant impact on vision. The purpose of this review is to describe the clinical features, genetics, and therapeutic options for this disease and to provide an update of current knowledge and latest research findings. Aside from the ocular features, a variety of associated systemic abnormalities, including hormonal, metabolic, gastrointestinal, genitourinary, and neurologic pathologies have been reported in children with aniridia. Although mutations in PAX6 are a major cause of aniridia, genetic defects in nearby genes, such as TRIM44 or ELP4, have also been reported to cause aniridia. Recent improvement in genetic testing technique will help more rapid and precise diagnosis for aniridia. A promising therapeutic approach called nonsense suppression therapy has been introduced and successfully used in an animal model. Aniridia is a challenging disease. The progressive nature of this condition and its potential complications require continuous and life-long ophthalmologic care. Genetic diagnosis for aniridia is important for establishing definitive molecular characterization as well as identifying individuals at high risk for Wilms tumor. Recent advancement in understanding the genetic pathogenesis of this disease offers promise for the approaches to treatment.

  6. Advancing medication infusion safety through the clinical integration of technology.

    Science.gov (United States)

    Gerhart, Donald; O'Shea, Kristen; Muller, Sharon

    2013-01-01

    Adverse drug events resulting from errors in prescribing or administering medications are preventable. Within a hospital system, numerous technologies are employed to address the common sources of medication error, including the use of electronic medical records, physician order entry, smart infusion pumps, and barcode medication administration systems. Infusion safety is inherently risky because of the high-risk medications administered and the lack of integration among the stand-alone systems in most institutions. Intravenous clinical integration (IVCI) is a technology that connects electronic medical records, physician order entry, smart infusion pumps, and barcode medication administration systems. It combines the safety features of an automatically programmed infusion pump (drug, concentration, infusion rate, and patient weight, all auto-programmed into the device) with software that provides visibility to real-time clinical infusion data. Our article describes the characteristics of IVCI at WellSpan Health and its impact on patient safety. The integrated infusion system has the capability of reducing medication errors, improving patient care, reducing in-facility costs, and supporting asset management. It can enhance continuous quality improvement efforts and efficiency of clinical work flow. After implementing IVCI, the institution realized a safer patient environment and a more streamlined work flow for pharmacy and nursing.

  7. Anonymization of Electronic Medical Records to Support Clinical Analysis

    CERN Document Server

    Gkoulalas-Divanis, Aris

    2013-01-01

    Anonymization of Electronic Medical Records to Support Clinical Analysis closely examines the privacy threats that may arise from medical data sharing, and surveys the state-of-the-art methods developed to safeguard data against these threats. To motivate the need for computational methods, the book first explores the main challenges facing the privacy-protection of medical data using the existing policies, practices and regulations. Then, it takes an in-depth look at the popular computational privacy-preserving methods that have been developed for demographic, clinical and genomic data sharing, and closely analyzes the privacy principles behind these methods, as well as the optimization and algorithmic strategies that they employ. Finally, through a series of in-depth case studies that highlight data from the US Census as well as the Vanderbilt University Medical Center, the book outlines a new, innovative class of privacy-preserving methods designed to ensure the integrity of transferred medical data for su...

  8. The pattern of clinical advice sought by general practitioners from a medical consultant in clinical biochemistry.

    Science.gov (United States)

    Bhatnagar, D

    1997-01-01

    Clinical biochemistry departments can be a valuable source of clinical advice for further investigations and the need for referral to specialist clinics. This paper outlines the pattern of clinical advice sought by general practitioners in a district hospital setting, and addresses some of the issues regarding seeking such advice and the implications for continuing medical education and training. PMID:9196966

  9. Alstr?m Syndrome: Genetics and Clinical Overview

    OpenAIRE

    Marshall, Jan D; Maffei, Pietro; Collin, Gayle B; Naggert, J?rgen K

    2011-01-01

    Alstr?m syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. Symptoms first appear in infancy and progressive development of multi-organ pathology leads to a reduced life expectancy. Variability in age of onset and severity of clinic...

  10. Noonan syndrome: a clinical and genetic study of 31 patients

    Directory of Open Access Journals (Sweden)

    Bertola Débora Romeo

    1999-01-01

    Full Text Available Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%; craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%; cardiac anomalies (65%, and fetal pads in fingers and toes (70%. After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

  11. The Genetic Intersection of Neurodevelopmental Disorders and Shared Medical Comorbidities – Relations that Translate from Bench to Bedside

    Directory of Open Access Journals (Sweden)

    Jamsine Plummer

    2016-08-01

    Full Text Available Most psychiatric disorders are considered neurodevelopmental, and the associated genes often are expressed in tissues outside of the brain. This suggests a biological relatedness with medical co-occurrences that could have broad clinical implications for diagnosis and patient management over a lifetime. A qualitative integration of public data from genetic consortia of psychiatric disorders and medical comorbidities explores the question of whether genetically associated psychiatric illnesses present with co-occurring disturbances can be used to define specific mental-physical health relations. Novel patterns of gene-disorder relations appear with approximately one-third of conservatively defined, consortia-generated candidate risk genes with multiple psychiatric diagnoses. Moreover, nearly as many genes overlap with non-psychiatric phenotypes, including cardiovascular, renal, respiratory and metabolic disturbances. While the landscape of genetic risk will change as study populations are expanded and biological confirmations accrue, the current relationships suggest that a mostly siloed perspective of gene relatedness to one categorical psychiatric diagnosis is not clinically useful. The future holds the promise that once candidates are fully validated, genome screening and mutation identification will bring more precision for predicting the risk for complex health conditions. Our view is that as genetic data is refined, continuing to decipher a shared pattern of genetic risk for brain and peripheral organ pathophysiology is not simply an academic exercise. Rather, determining relatedness will impact predictions of multifaceted health risks, patient treatment and management.

  12. [Wolfram syndrome: clinical and genetic analysis in two sisters].

    Science.gov (United States)

    Conart, J-B; Maalouf, T; Jonveaux, P; Guerci, B; Angioi, K

    2011-10-01

    Wolfram syndrome is a severe genetic disorder defined by the association of diabetes mellitus, optic atrophy, deafness, and diabetes insipidus. Two sisters complained of progressive visual loss. Fundus examination evidenced optic atrophy. Their past medical history revealed diabetes mellitus and deafness since childhood. The association of these symptoms made the diagnosis of Wolfram syndrome possible. It was confirmed by molecular analysis, which evidenced composite WFS1 heterozygous mutations inherited from both their mother and father. Ophthalmologists should be aware of the possibility of Wolfram syndrome when diagnosing optic atrophy in diabetic children. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  13. Perceptions of medical graduates and their workplace supervisors towards a medical school clinical audit program.

    Science.gov (United States)

    Davis, Stephanie; O'Ferrall, Ilse; Hoare, Samuel; Caroline, Bulsara; Mak, Donna B

    2017-07-07

    This study explores how medical graduates and their workplace supervisors perceive the value of a structured clinical audit program (CAP) undertaken during medical school. Medical students at the University of Notre Dame Fremantle complete a structured clinical audit program in their final year of medical school.  Semi-structured interviews were conducted with 12 Notre Dame graduates (who had all completed the CAP), and seven workplace supervisors (quality and safety staff and clinical supervisors).  Purposeful sampling was used to recruit participants and data were analysed using thematic analysis. Both graduates and workplace supervisors perceived the CAP to be valuable. A major theme was that the CAP made a contribution to individual graduate's medical practice, including improved knowledge in some areas of patient care as well as awareness of healthcare systems issues and preparedness to undertake scientifically rigorous quality improvement activities. Graduates perceived that as a result of the CAP, they were confident in undertaking a clinical audit after graduation.  Workplace supervisors perceived the value of the CAP beyond an educational experience and felt that the audits undertaken by students improved quality and safety of patient care. It is vital that health professionals, including medical graduates, be able to carry out quality and safety activities in the workplace. This study provides evidence that completing a structured clinical audit during medical school prepares graduates to undertake quality and safety activities upon workplace entry. Other health professional faculties may be interested in incorporating a similar program in their curricula.

  14. Use of Smartphones for Clinical and Medical Education.

    Science.gov (United States)

    Valle, Jazmine; Godby, Tyler; Paul, David P; Smith, Harlan; Coustasse, Alberto

    Smartphone use in clinical settings and in medical education has been on the rise, benefiting both health care and health care providers. Studies have shown, however, that some health care facilities and providers are reluctant to switch to smartphones due to the threat of mixing personal apps with clinical care applications and the possibility that distraction created by smartphone use could lead to medication errors and errors linked to procedures, treatments, or tests. The purpose of this research was to examine the effects of smartphones in a clinical setting and for medical education, to determine their overall impact. The methodology for this qualitative study was a literature review, conducted over five electronic databases. The search was limited to articles published in English, between 2010 and 2016. Forty-one sources that focused on the implementation of and the barriers to use of smartphones in clinical and medical education environments were referenced. These studies revealed that smartphones have more positive than negative effects on the ability to enhance patient care and medical education. Smartphone use is clearly an effective and efficient method of enhancing patient care and medical education in the health care industry. Access to health care as well is enhanced by the use of this tool.

  15. Medication therapy management clinic: perception of healthcare professionals in a University medical center setting

    Directory of Open Access Journals (Sweden)

    Shah M

    2013-09-01

    Full Text Available Objective: To determine the overall perception and utilization of the pharmacist managed medication therapy management (MTM clinic services, by healthcare professionals in a large, urban, university medical care setting.Methods: This was a cross-sectional, anonymous survey sent to 195 healthcare professionals, including physicians, nurses, and pharmacists at The University of Illinois Outpatient Care Center to determine their perception and utilization of the MTM clinic. The survey consisted of 12 questions and was delivered through a secure online application. Results: Sixty-two healthcare professionals (32% completed the survey. 82% were familiar with the MTM clinic, and 63% had referred patients to the clinic. Medication adherence and disease state management was the most common reason for referral. Lack of knowledge on the appropriate referral procedure was the prominent reason for not referring patients to the MTM clinic. Of the providers that were aware of MTM services, 44% rated care as ‘excellent’, 44% as ‘good’, 5% as ‘fair’, and 0% stated ‘poor’. Strengths of MTM clinic identified by healthcare providers included in-depth education to patients, close follow-up, and detailed medication reconciliation provided by MTM clinic pharmacists. Of those familiar with MTM clinic, recommendations included; increase marketing efforts to raise awareness of the MTM clinic service, create collaborative practice agreements between MTM pharmacists and physicians, and ensure that progress notes are more concise.Conclusion: In a large, urban, academic institution MTM clinic is perceived as a valuable resource to optimize patient care by providing patients with in-depth education as it relates to their prescribed medications and disease states. These identified benefits of MTM clinic lead to frequent patient referrals specifically for aid with medication adherence and disease state management.

  16. Clinical skills temporal degradation assessment in undergraduate medical education.

    Science.gov (United States)

    Fisher, Joseph; Viscusi, Rebecca; Ratesic, Adam; Johnstone, Cameron; Kelley, Ross; Tegethoff, Angela M; Bates, Jessica; Situ-Lacasse, Elaine H; Adamas-Rappaport, William J; Amini, Richard

    2018-01-01

    Medical students' ability to learn clinical procedures and competently apply these skills is an essential component of medical education. Complex skills with limited opportunity for practice have been shown to degrade without continued refresher training. To our knowledge there is no evidence that objectively evaluates temporal degradation of clinical skills in undergraduate medical education. The purpose of this study was to evaluate temporal retention of clinical skills among third year medical students. This was a cross-sectional study conducted at four separate time intervals in the cadaver laboratory at a public medical school. Forty-five novice third year medical students were evaluated for retention of skills in the following three procedures: pigtail thoracostomy, femoral line placement, and endotracheal intubation. Prior to the start of third-year medical clerkships, medical students participated in a two-hour didactic session designed to teach clinically relevant materials including the procedures. Prior to the start of their respective surgery clerkships, students were asked to perform the same three procedures and were evaluated by trained emergency medicine and surgery faculty for retention rates, using three validated checklists. Students were then reassessed at six week intervals in four separate groups based on the start date of their respective surgical clerkships. We compared the evaluation results between students tested one week after training and those tested at three later dates for statistically significant differences in score distribution using a one-tailed Wilcoxon Mann-Whitney U-test for non-parametric rank-sum analysis. Retention rates were shown to have a statistically significant decline between six and 12 weeks for all three procedural skills. In the instruction of medical students, skill degradation should be considered when teaching complex technical skills. Based on the statistically significant decline in procedural skills noted

  17. Formal genetic maps | Salem | Egyptian Journal of Medical Human ...

    African Journals Online (AJOL)

    Formal genetic maps are databases, represented as text or graphic figures, that can be collected/organized/formulated and constructed for nearly any, and every, structural or functional region of the genetic material. Though these maps are basically descriptive, their analysis can provide relevant crucial data that can be ...

  18. Testing for clinical inertia in medication treatment of bipolar disorder.

    Science.gov (United States)

    Hodgkin, Dominic; Merrick, Elizabeth L; O'Brien, Peggy L; McGuire, Thomas G; Lee, Sue; Deckersbach, Thilo; Nierenberg, Andrew A

    2016-11-15

    Clinical inertia has been defined as lack of change in medication treatment at visits where a medication adjustment appears to be indicated. This paper seeks to identify the extent of clinical inertia in medication treatment of bipolar disorder. A second goal is to identify patient characteristics that predict this treatment pattern. Data describe 23,406 visits made by 1815 patients treated for bipolar disorder during the STEP-BD practical clinical trial. Visits were classified in terms of whether a medication adjustment appears to be indicated, and also whether or not one occurred. Multivariable regression analyses were conducted to find which patient characteristics were predictive of whether adjustment occurred. 36% of visits showed at least 1 indication for adjustment. The most common indications were non-response to medication, side effects, and start of a new illness episode. Among visits with an indication for adjustment, no adjustment occurred 19% of the time, which may be suggestive of clinical inertia. In multivariable models, presence of any indication for medication adjustment was a predictor of receiving one (OR=1.125, 95% CI =1.015, 1.246), although not as strong as clinical status measures. The associations observed are not necessarily causal, given the study design. The data also lack information about physician-patient communication. Many patients remained on the same medication regimen despite indications of side effects or non-response to treatment. Although lack of adjustment does not necessarily reflect clinical inertia in all cases, the reasons for this treatment pattern merit further examination. Copyright © 2016 Elsevier B.V. All rights reserved.

  19. Simulation-based medical education in clinical skills laboratory.

    Science.gov (United States)

    Akaike, Masashi; Fukutomi, Miki; Nagamune, Masami; Fujimoto, Akiko; Tsuji, Akiko; Ishida, Kazuko; Iwata, Takashi

    2012-01-01

    Clinical skills laboratories have been established in medical institutions as facilities for simulation-based medical education (SBME). SBME is believed to be superior to the traditional style of medical education from the viewpoint of the active and adult learning theories. SBME can provide a learning cycle of debriefing and feedback for learners as well as evaluation of procedures and competency. SBME offers both learners and patients a safe environment for practice and error. In a full-environment simulation, learners can obtain not only technical skills but also non-technical skills, such as leadership, team work, communication, situation awareness, decision-making, and awareness of personal limitations. SBME is also effective for integration of clinical medicine and basic medicine. In addition, technology-enhanced simulation training is associated with beneficial effects for outcomes of knowledge, skills, behaviors, and patient-related outcomes. To perform SBME, effectively, not only simulators including high-fidelity mannequin-type simulators or virtual-reality simulators but also full-time faculties and instructors as professionals of SBME are essential in a clinical skills laboratory for SBME. Clinical skills laboratory is expected to become an integrated medical education center to achieve continuing professional development, integrated learning of basic and clinical medicine, and citizens' participation and cooperation in medical education.

  20. Disability rights in dialogue with clinical genetics conference, May 31 to June 2, 1996

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1996-12-31

    The issue of prenatal diagnosis and selective abortion has been hotly debated in the medical, genetic counselling, feminist, parents, disability rights and bio-ethics literature, each of the various positions critiquing each other. People from the disability rights community in particular have began to articulate a critical view of the practice of widespread prenatal diagnosis with intent to abort because the pregnancy might result in a child with a disability. Unfortunately, people from the various disciplines and perspectives, such as bioethics, disability rights, feminism and so forth, by and large, have tended only to write for themselves and their colleagues. Few people have crossed disciplines to try to talk to people with other views. The rapid advances of genome research have continued to produce new prenatal tests, raising many complex ethical questions regarding the applications of prenatal testing. But the widely disparate positions of the various factions has made it difficult to move toward formulation of public policy change necessary to encompass these new genetic technologies. Genetic counselling is in the front lines of the controversial social and ethical issues arising from prenatal diagnosis, in its interface between medical science and the consumer of services. The primary intent of the conference was to invite and facilitate productive dialogue between individuals and groups of people who have traditionally not interacted as a result of their disparate views on these issues and to learn from this process, emphasizing the involvement of people with disabilities and people who work in clinical genetics.

  1. Clinical Training of Medical Physicists Specializing in Diagnostic Radiology

    International Nuclear Information System (INIS)

    2010-01-01

    The application of radiation in human health, for both diagnosis and treatment of disease, is an important component of the work of the IAEA. The responsibility for the increasing technical aspects of this work is undertaken by the medical physicist. To ensure good practice in this vital area, structured clinical training programmes are required to complement academic learning. This publication is intended to be a guide to the practical implementation of such a programme for diagnostic radiology. There is a general and growing awareness that radiation medicine is increasingly dependent on well trained medical physicists based in the clinical setting. However, an analysis of the availability of medical physicists indicates a large shortfall of qualified and capable professionals. This is particularly evident in developing countries. While strategies to increase academic educational opportunities are critical to such countries, the need for guidance on structured clinical training was recognized by the members of the Regional Cooperative Agreement (RCA) for Research, Development and Training related to Nuclear Sciences for Asia and the Pacific. Consequently, a technical cooperation regional project (RAS6038) under the RCA programme was formulated to address this need in the Asia-Pacific region by developing suitable material and establishing its viability. Development of a clinical training guide for medical physicists specializing in diagnostic radiology started in 2007 with the appointment of a core drafting committee of regional and international experts. The publication drew on the experiences of clinical training programmes in Australia and New Zealand, the UK and the USA, and was moderated by physicists working in the Asian region. This publication follows the approach of the IAEA publication Training Course Series No. 37, Clinical Training of Medical Physicists specializing in Radiation Oncology. This approach to clinical training has been successfully tested

  2. Beyond clinical utility: The multiple values of DTC genetics

    Directory of Open Access Journals (Sweden)

    Mauro Turrini

    2016-03-01

    Full Text Available One point of consensus in the otherwise very controversial discussion about the benefits and dangers of DTC genetics in the health domain is the lack of substantial clinical utility. At the same time, both the empirical and conceptual literature indicate that health-related DTC tests can have value and utility outside of the clinic. We argue that a broader and multi-faceted conceptualization of utility and value would enrich the ethical and social discussion of DTC testing in several ways: First, looking at ways in which DTC testing can have personal and social value for users – in the form of entertainment, learning, or a way to relate to others – can help to explain why people still take DTC tests, and will, further down the line, foster a more nuanced understanding of secondary and tertiary uses of DTC test results (which could very well unearth new ethical and regulatory challenges. Second, considering the economic value and broader utility of DTC testing foregrounds wider social and political aspects than have been dominant in the ethical and regulatory debates surrounding DTC genetics so far. These wider political aspects include the profound power asymmetries that characterize the collection and use of personal genetic data in many contexts.

  3. Clinical and genetic aspects of familial isolated pituitary adenomas

    Directory of Open Access Journals (Sweden)

    Vladimir Vasilev

    2012-01-01

    Full Text Available Pituitary adenomas represent a group of functionally diverse neoplasms with relatively high prevalence in the general population. Most occur sporadically, but inherited genetic predisposing factors are increasingly recognized. Familial isolated pituitary adenoma is a recently defined clinical entity, and is characterized by hereditary presentation of pituitary adenomas in the absence of clinical and genetic features of syndromic disease such as multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenoma is inherited in an autosomal dominant manner and accounted for approximately 2-3% of pituitary tumors in some series. Germline mutations in the aryl-hydrocarbon interacting protein gene are identified in around 25% of familial isolated pituitary adenoma kindreds. Pituitary adenomas with mutations of the aryl-hydrocarbon interacting protein gene are predominantly somatotropinomas and prolactinomas, but non-functioning adenomas, Cushing disease, and thyrotropinoma may also occur. These tumors may present as macroadenomas in young patients and are often relatively difficult to control. Furthermore, recent evidence indicates that aryl-hydrocarbon interacting protein gene mutations occur in >10% of patients with sporadic macroadenomas that occur before 30 years of age, and in >20% of children with macroadenomas. Genetic screening for aryl-hydrocarbon interacting protein gene mutations is warranted in selected high-risk patients who may benefit from early recognition and follow-up.

  4. Genetics in endocrinology: genetic variation in deiodinases: a systematic review of potential clinical effects in humans.

    Science.gov (United States)

    Verloop, Herman; Dekkers, Olaf M; Peeters, Robin P; Schoones, Jan W; Smit, Johannes W A

    2014-09-01

    Iodothyronine deiodinases represent a family of selenoproteins involved in peripheral and local homeostasis of thyroid hormone action. Deiodinases are expressed in multiple organs and thyroid hormone affects numerous biological systems, thus genetic variation in deiodinases may affect multiple clinical endpoints. Interest in clinical effects of genetic variation in deiodinases has clearly increased. We aimed to provide an overview for the role of deiodinase polymorphisms in human physiology and morbidity. In this systematic review, studies evaluating the relationship between deiodinase polymorphisms and clinical parameters in humans were eligible. No restrictions on publication date were imposed. The following databases were searched up to August 2013: Pubmed, EMBASE (OVID-version), Web of Science, COCHRANE Library, CINAHL (EbscoHOST-version), Academic Search Premier (EbscoHOST-version), and ScienceDirect. Deiodinase physiology at molecular and tissue level is described, and finally the role of these polymorphisms in pathophysiological conditions is reviewed. Deiodinase type 1 (D1) polymorphisms particularly show moderate-to-strong relationships with thyroid hormone parameters, IGF1 production, and risk for depression. D2 variants correlate with thyroid hormone levels, insulin resistance, bipolar mood disorder, psychological well-being, mental retardation, hypertension, and risk for osteoarthritis. D3 polymorphisms showed no relationship with inter-individual variation in serum thyroid hormone parameters. One D3 polymorphism was associated with risk for osteoarthritis. Genetic deiodinase profiles only explain a small proportion of inter-individual variations in serum thyroid hormone levels. Evidence suggests a role of genetic deiodinase variants in certain pathophysiological conditions. The value for determination of deiodinase polymorphism in clinical practice needs further investigation. © 2014 European Society of Endocrinology.

  5. Perspectives for medical informatics. Reusing the electronic medical record for clinical research.

    Science.gov (United States)

    Prokosch, H U; Ganslandt, T

    2009-01-01

    Even though today most university hospitals have already implemented commercial hospital information systems and started to build up comprehensive electronic medical records, reuse of such data for data warehousing and research purposes is still very rare. Given this situation, the focus of this paper is to present an overview on exemplary projects, which have already tackled this challenge, reflect on current initiatives within the United States of America and the European Union to establish IT infrastructures for clinical and translational research, and draw attention to new challenges in this area. This paper does not intend to provide a fully comprehensive review on all the issues of clinical routine data reuse. It is based, however, on a presentation of a large variety of historical, but also most recent activities in data warehousing, data retrieval and linking medical informatics with translational research. The article presents an overview of the various international approaches to this issue and illustrates concepts and solutions which have been published, thus giving an impression of activities pursued in this field of medical informatics. Further, problems and open questions, which have also been named in the literature, are presented and three challenges (to establish comprehensive clinical data warehouses, to establish professional IT infrastructure applications supporting clinical trial data capture and to integrate medical record systems and clinical trial databases) related to this area of medical informatics are identified and presented. Translational biomedical research with the aim "to integrate bedside and biology" and to bridge the gap between clinical care and medical research today and in the years to come, provides a large and interesting field for medical informatics researchers. Especially the need for integrating clinical research projects with data repositories built up during documentation of routine clinical care, today still leaves

  6. Egyptian Journal of Medical Human Genetics - Vol 11, No 1 (2010)

    African Journals Online (AJOL)

    Egyptian Journal of Medical Human Genetics - Vol 11, No 1 (2010) ... Gene polymorphisms of TNF-α and IL-10 related to rheumatic heart disease · EMAIL ... with familial Mediterranean fever · EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT

  7. Egyptian Journal of Medical Human Genetics - Vol 13, No 2 (2012)

    African Journals Online (AJOL)

    Egyptian Journal of Medical Human Genetics - Vol 13, No 2 (2012) ... as independent indicators for B-CLL: Correlation to response to treatment and disease ... Profile of disorders of sexual differentiation in the Northeast region of Cairo, Egypt ...

  8. Clinical Correlations as a Tool in Basic Science Medical Education

    Directory of Open Access Journals (Sweden)

    Brenda J. Klement

    2016-01-01

    Full Text Available Clinical correlations are tools to assist students in associating basic science concepts with a medical application or disease. There are many forms of clinical correlations and many ways to use them in the classroom. Five types of clinical correlations that may be embedded within basic science courses have been identified and described. (1 Correlated examples consist of superficial clinical information or stories accompanying basic science concepts to make the information more interesting and relevant. (2 Interactive learning and demonstrations provide hands-on experiences or the demonstration of a clinical topic. (3 Specialized workshops have an application-based focus, are more specialized than typical laboratory sessions, and range in complexity from basic to advanced. (4 Small-group activities require groups of students, guided by faculty, to solve simple problems that relate basic science information to clinical topics. (5 Course-centered problem solving is a more advanced correlation activity than the others and focuses on recognition and treatment of clinical problems to promote clinical reasoning skills. Diverse teaching activities are used in basic science medical education, and those that include clinical relevance promote interest, communication, and collaboration, enhance knowledge retention, and help develop clinical reasoning skills.

  9. Medical teachers conceptualize a distinctive form of clinical knowledge.

    Science.gov (United States)

    Barrett, J; Yates, L; McColl, G

    2015-05-01

    For over four decades, there have been efforts to specify the types of knowledge that medical students need, how that knowledge is acquired and how its constituent parts are related. It is one of the areas of continuing concern underlying medical education reform. Despite their importance to medical students' learning and development, the perspectives of medical teachers in hospitals are not always considered in such discourse. This study sought to generate an understanding of these teachers' values, perspectives and approaches by listening to them and seeing them in their everyday teaching work, finding and understanding the meanings they bring to the work of medical teaching in hospitals. In interviews, all of the teachers talked more about the optimal forms of knowledge that are important for students than they talked about the form of the teaching itself. Many revealed to students what knowledge they do and do not value. They had a particular way of thinking about clinical knowledge as existing in the people and the places in which the teaching and the clinical practice happen, and represented this as 'real' knowledge. By implication, there is other knowledge in medical education or in students' heads that is not real and needs to be transformed. Their values, practices and passions add texture and vitality to existing ways of thinking about the characteristics of clinical knowledge, how it is depicted in the discourse and the curriculum and how it is more dynamically related to other knowledge than is suggested in traditional conceptualizations of knowledge relationships.

  10. Associations of medical student empathy with clinical competence.

    Science.gov (United States)

    Casas, Rachel S; Xuan, Ziming; Jackson, Angela H; Stanfield, Lorraine E; Harvey, Nanette C; Chen, Daniel C

    2017-04-01

    Empathy is a crucial skill for medical students that can be difficult to evaluate. We examined if self-reported empathy in medical students was associated with clinical competence. This study combined cross-sectional data from four consecutive years of medical students (N=590) from the Boston University School of Medicine. We used regression analysis to evaluate if self-reported empathy (Jefferson Scale of Physician Empathy (JSPE)) predicted scores in clinical clerkships, United States Medical Licensing Examinations, and OBJECTIVE: Structured Clinical Examinations (OSCEs). We separately analyzed overall and OSCE communication scores based on interpersonal skills reported by standardized patients. We controlled for age, gender, debt, and specialty affinity. JSPE scores of medical students were positively associated with OSCE communication scores, and remained significant when controlling for demographics. We found that JSPE score was also predictive of overall OSCE scores, but this relationship was confounded by gender and age. JSPE scores were associated with performance in the Pediatrics clerkship, but not other clerkships or standardized tests. JSPE scores were positively associated with OSCE communication scores in medical students. This study supports that self-reported empathy may predict OSCE performance, but further research is needed to examine differences by gender and age. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  11. Integrating clinical communication with clinical reasoning and the broader medical curriculum.

    Science.gov (United States)

    Cary, Julie; Kurtz, Suzanne

    2013-09-01

    The objectives of this paper are to discuss the results of a workshop conducted at EACH 2012. Specifically, we will (1) examine the link between communication, clinical reasoning, and medical problem solving, (2) explore strategies for (a) integrating clinical reasoning, medical problem solving, and content from the broader curriculum into clinical communication teaching and (b) integrating communication into the broader curriculum, and (3) discuss benefits gained from such integration. Salient features from the workshop were recorded and will be presented here, as well as a case example to illustrate important connections between clinical communication and clinical reasoning. Potential links between clinical communication, clinical reasoning, and medical problem solving as well as strategies to integrate clinical communication teaching and the broader curricula in human and veterinary medicine are enumerated. Participants expressed enthusiasm and keen interest in integration of clinical communication teaching and clinical reasoning during this workshop, came to the idea of the interdependence of these skills easily, and embraced the rationale immediately. Valuing the importance of communication as clinical skill and embracing the interdependence between communication and thought processes related to clinical reasoning and medical problem solving will be beneficial in teaching programs. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  12. Genetic epidemiology, hematological and clinical features of hemoglobinopathies in Iran.

    Science.gov (United States)

    Rahimi, Zohreh

    2013-01-01

    There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the β-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah (western Iran) provinces, respectively. Also, α-chain variants of Hb Q-Iran and Hb Setif are prevalent in western Iran. The molecular basis and clinical severity of thalassemias are extremely heterogenous among Iranians due to the presence of multiethnic groups in the country. β-Thalassemia is more prevalent in northern and southern Iran. Among 52 different β-thalassemia mutations that have been identified among Iranian populations, IVSII-1 G:A is the most frequent mutation in most parts of the country. The presence of IVS I-5 G:C mutation with high frequency in southeastern Iran might reflect gene flow from neighboring countries. A wide spectrum of α-thalassemia alleles has been detected among Iranians with -α(3.7 kb) as the most prevalent α-thalassemia mutation. The prevention program of thalassemia birth in Iran has reduced the birth rate of homozygous β-thalassemia since the implementation of the program in 1997. In this review genetic epidemiology, clinical and hematological aspects of hemoglobinopathies, and the prevention programs of β-thalassemia in Iran will be discussed.

  13. Genetic Epidemiology, Hematological and Clinical Features of Hemoglobinopathies in Iran

    Directory of Open Access Journals (Sweden)

    Zohreh Rahimi

    2013-01-01

    Full Text Available There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the β-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran and Kermanshah (western Iran provinces, respectively. Also, α-chain variants of Hb Q-Iran and Hb Setif are prevalent in western Iran. The molecular basis and clinical severity of thalassemias are extremely heterogenous among Iranians due to the presence of multiethnic groups in the country. β-Thalassemia is more prevalent in northern and southern Iran. Among 52 different β-thalassemia mutations that have been identified among Iranian populations, IVSII-1 G:A is the most frequent mutation in most parts of the country. The presence of IVS I-5 G:C mutation with high frequency in southeastern Iran might reflect gene flow from neighboring countries. A wide spectrum of α-thalassemia alleles has been detected among Iranians with as the most prevalent α-thalassemia mutation. The prevention program of thalassemia birth in Iran has reduced the birth rate of homozygous β-thalassemia since the implementation of the program in 1997. In this review genetic epidemiology, clinical and hematological aspects of hemoglobinopathies, and the prevention programs of β-thalassemia in Iran will be discussed.

  14. Comparison of medication reconciliation and medication review: errors and clinical importance

    DEFF Research Database (Denmark)

    Bjeldbak-Olesen, Mette; Danielsen, Anja Gadsbølle; Tomsen, Dorthe Vilstrup

    2013-01-01

    in the patient record and the EMS. 15% of the discrepancies were potentially serious or fatal, 62% were potentially significant and 23% were potentially non-significant. A total of 129 DRPs were identified by medication review, 1.7 per patient. The most frequent DRPs were sub therapeutic dosage, inappropriate......Introduction: The objective of this study was to compare medication reconciliation and medication review based on number, type and severity of discrepancies and drug-re­lated problems (DRPs), denoted errors. Material and methods: This was a retrospective study conducted at the Department...... of Cardiology, Hillerød Hos­pital. Medication reconciliation compared the prescriptions in patient records, an electronic medication system (EMS) and in discharge summaries (DS). The medication review was based on the EMS. The two methods were performed on the same data material. To assess the clinical...

  15. Clinical Training of Medical Physicists Specializing in Radiation Oncology

    International Nuclear Information System (INIS)

    2009-01-01

    The application of radiation in human health, for both diagnosis and treatment of disease, is an important component of the work of the IAEA. The responsibility for the increasing technical aspects of this work is undertaken by the medical physicist. To ensure good practice in this vital area structured clinical training programmes are required to complement academic learning. This publication is intended to be a guide to the practical implementation of such a programme for radiation therapy. There is a general and growing awareness that radiation medicine is increasingly dependant on well trained medical physicists that are based in the clinical setting. However an analysis of the availability of medical physicists indicates a large shortfall of qualified and capable professionals. This is particularly evident in developing countries. While strategies to increase academic educational opportunities are critical to such countries, the need for guidance on structured clinical training was recognised by the members of the Regional Cooperative Agreement (RCA) for research, development and training related to nuclear sciences for Asia and the Pacific. Consequently a technical cooperation regional project (RAS6038) under the RCA programme was formulated to address this need in the Asia Pacific region by developing suitable material and establishing its viability. Development of a clinical training guide for medical physicists specialising in radiation therapy was started in 2005 with the appointment of a core drafting committee of regional and international experts. Since 2005 the IAEA has convened two additional consultant group meetings including additional experts to prepare the present publication. The publication drew heavily, particularly in the initial stages, from the experience and documents of the Clinical Training Programme for Radiation Oncology Medical Physicists as developed by the Australasian College of Physical Scientists and Engineers in Medicine. Their

  16. MODY in Siberia – molecular genetics and clinical characteristics

    Directory of Open Access Journals (Sweden)

    Alla Konstantinovna Ovsyannikova

    2017-05-01

    Full Text Available The diagnosis of maturity onset diabetes of the young (MODY has high clinical significance in young patients (no absolute need for exogenous insulin; normoglycaemia in most patients achieved by dieting or taking oral hypoglycaemic agents and their relatives (high probability of first-degree relatives being carriers of mutations, which requires a thorough collection of family history and determination of the parameters of carbohydrate metabolism. Aim. This study aimed was to determine the clinical characteristics of different subtypes of MODY in a Siberian region. Materials and Methods. We performed an examination, biochemical and hormonal blood tests, ultrasound and molecular genetic testing of 20 patients with a clinical diagnosis of MODY. Results. Four subtypes of MODY were verified: MODY2 in 11 patients, MODY3 in two, MODY8 in one and MODY12 in two. Eleven patients (69% exhibited no clinical manifestations of carbohydrate metabolism disorders, and one patient showed weight loss during early stage of the disease. Comorbidities included dyslipidemia, thyroid gland disorders and arterial hypertension. One patient (6% exhibited diabetic nephropathy; two (13%, diabetic retinopathy and three (19%, peripheral neuropathy of lower legs. All patients achieved the target carbohydrate metabolism; the level of C-peptide was within the reference range. Conclusion. Four different subtypes of MODY (2, 3, 8, 12 were diagnosed in the present study, which differed in their clinical characteristics, presence of complications and treatment strategies. Our knowledge of monogenic forms of diabetes is expanding with the development in molecular genetics, but several aspects related to them require further study.

  17. Triploid pregnancies: genetic and clinical features of 158 cases

    DEFF Research Database (Denmark)

    Jørgensen, Mette Warming; Niemann, I.; Rasmussen, AA

    2014-01-01

    OBJECTIVE: The purpose of this study was to analyze the correlation between the genetic constitution and the phenotype in triploid pregnancies. STUDY DESIGN: One hundred fifty-eight triploid pregnancies were identified in hospitals in Western Denmark from April 1986 to April 2010. Clinical data...... at ultrasound scanning, by macroscopic inspection of the evacuated tissue, at histology, or because of a high human chorionic gonadotropin in maternal serum level each predict the parental type PPM with a very high specificity. In contrast, the sensitivity of these observations was

  18. Predictive Psychiatric Genetic Testing in Minors: An Exploration of the Non-Medical Benefits.

    Science.gov (United States)

    Manzini, Arianna; Vears, Danya F

    2018-03-01

    Predictive genetic testing for susceptibility to psychiatric conditions is likely to become part of standard practice. Because the onset of most psychiatric diseases is in late adolescence or early adulthood, testing minors could lead to early identification that may prevent or delay the development of these disorders. However, due to their complex aetiology, psychiatric genetic testing does not provide the immediate medical benefits that current guidelines require for testing minors. While several authors have argued non-medical benefits may play a crucial role in favour of predictive testing for other conditions, little research has explored such a role in psychiatric disorders. This paper outlines the potential non-medical benefits and harms of psychiatric genetic testing in minors in order to consider whether the non-medical benefits could ever make such testing appropriate. Five non-medical themes arise in the literature: psychological impacts, autonomy/self-determination, implications of the biomedical approach, use of financial and intellectual resources, and discrimination. Non-medical benefits were prominent in all of them, suggesting that psychiatric genetic testing in minors may be appropriate in some circumstances. Further research needs to empirically assess these potential non-medical benefits, incorporate minors in the debate, and include normative reflection to evaluate the very purposes and motivations of psychiatric genetic testing in minors.

  19. Physician medical direction and clinical performance at an established emergency medical services system.

    Science.gov (United States)

    Munk, Marc-David; White, Shaun D; Perry, Malcolm L; Platt, Thomas E; Hardan, Mohammed S; Stoy, Walt A

    2009-01-01

    Few developed emergency medical services (EMS) systems operate without dedicated medical direction. We describe the experience of Hamad Medical Corporation (HMC) EMS, which in 2007 first engaged an EMS medical director to develop and implement medical direction and quality assurance programs. We report subsequent changes to system performance over time. Over one year, changes to the service's clinical infrastructure were made: Policies were revised, paramedic scopes of practice were adjusted, evidence-based clinical protocols were developed, and skills maintenance and education programs were implemented. Credentialing, physician chart auditing, clinical remediation, and online medical command/hospital notification systems were introduced. Following these interventions, we report associated improvements to key indicators: Chart reviews revealed significant improvements in clinical quality. A comparison of pre- and post-intervention audited charts reveals a decrease in cases requiring remediation (11% to 5%, odds ratio [OR] 0.43 [95% confidence interval (CI) 0.20-0.85], p = 0.01). The proportion of charts rated as clinically acceptable rose from 48% to 84% (OR 6 [95% CI 3.9-9.1], p < 0.001). The proportion of misplaced endotracheal tubes fell (3.8% baseline to 0.6%, OR 0.16 [95% CI 0.004-1.06], (exact) p = 0.05), corresponding to improved adherence to an airway placement policy mandating use of airway confirmation devices and securing devices (0.7% compliance to 98%, OR 714 [95% CI 64-29,334], (exact) p < 0.001). Intravenous catheter insertion in unstable cases increased from 67% of cases to 92% (OR 1.31 [95% CI 1.09-1.71], p = 0.004). EMS administration of aspirin to patients with suspected ischemic chest pain improved from 2% to 77% (OR 178 [95% CI 35-1,604], p < 0.001). We suggest that implementation of a physician medical direction is associated with improved clinical indicators and overall quality of care at an established EMS system.

  20. Breadth versus volume: Neurology outpatient clinic cases in medical education.

    Science.gov (United States)

    Albert, Dara V; Blood, Angela D; Park, Yoon Soo; Brorson, James R; Lukas, Rimas V

    2016-06-01

    This study examined how volume in certain patient case types and breadth across patient case types in the outpatient clinic setting are related to Neurology Clerkship student performance. Case logs from the outpatient clinic experience of 486 students from The University of Chicago Pritzker School of Medicine, USA, participating in the 4week Neurology Clerkship from July 2008 to June 2013 were reviewed. A total of 12,381 patient encounters were logged and then classified into 13 diagnostic categories. How volume of cases within categories and the breadth of cases across categories relate to the National Board of Medical Examiners Clinical Subject Examination for Neurology and a Neurology Clerkship Objective Structured Clinical Examination was analyzed. Volume of cases was significantly correlated with the National Board of Medical Examiners Clinical Subject Examination for Neurology (r=.290, pNeurology (r=.231, p=.017), however was not significantly correlated with any component of the Objective Structured Clinical Examination. Volume of cases correlated with higher performance on measures of specialty knowledge and clinical skill. Fewer relationships emerged correlating breadth of cases and performance on the same measures. This study provides guidance to educators who must decide how much emphasis to place on volume versus breadth of cases in outpatient clinic learning experiences. Copyright © 2016 Elsevier Ltd. All rights reserved.

  1. Editorial : Clinical drug interactions | Kokwaro | East African Medical ...

    African Journals Online (AJOL)

    Journal Home > Vol 78, No 10 (2001) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register. Editorial: Clinical drug interactions. G. O. Kokwaro. Abstract. (East African Medical Journal 2001 78 (10): 505-506). Full Text: EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT

  2. The effect of an interprofessional clinical simulation on medical ...

    African Journals Online (AJOL)

    Five themes emerged from the reflections: (i) difficulties with implementing knowledge and skills; (ii) importance of teamwork; (iii) skills necessary for teamwork; (iv) effect of being observed by peers; and (v) IPE in the curriculum. Conclusions. Medical students gained clinical knowledge during the simulation and became ...

  3. Evaluating Clinical Knowledge across Years of Medical Training.

    Science.gov (United States)

    And Others; Mazzuca, Steven A

    1981-01-01

    The evolution of clinical knowledge about the management of a common chronic disease was determined by applying analysis of variance and multiple discriminant analysis to responses on two patient management problems by groups of junior medical students and internal medicine residents. The applying analysis of variance and multiple discriminant…

  4. Clinical training of medical physicists. IAEA experience in Asia

    International Nuclear Information System (INIS)

    McLean, D.

    2013-01-01

    Medical physicists make a major contribution to the safe and effective diagnosis and treatment of patients with cancer and other illnesses. The medical physicist's responsibilities include the major areas of dosimetry, treatment planning, quality assurance, image quality, optimization, equipment management, research, teaching, and radiation safety. With the increasing complexity of technological application to medicine the competence of trained physicists is critical to good patient care, with counter examples, sadly evident in the literature. The International Atomic Energy Agency (IAEA), in conjunction with international experts, including from Japan, has developed clinical training programmes that have been successfully implemented on a pilot basis in a number of countries in Asia. A new project is to begin in 2014 which will focus increasingly on the use of electronic teaching material and experiences, to assist medical physicists in clinical training increasingly in more remote locations in Asia. (author)

  5. Genetic architecture of clinical mastitis traits in dairy cattle

    DEFF Research Database (Denmark)

    Sahana, Goutam; Guldbrandtsen, Bernt; Lund, Mogens Sandø

    2012-01-01

    investigate the genetic architecture of clinical mastitis and somatic cell score traits in dairy cattle using a high density (HD) SNP panel. Mastitis, an inflammation of the mammary gland most commonly caused by bacterial infection, is a frequent disease in dairy cattle. Clinical mastitis and somatic cell...... score from first three lactations were studied for association with SNP markers in 4,200 progeny-tested Nordic Holstein bulls. Single trait breeding values were used as phenotypes. All the individuals were genotyped with BovineSNP50 Beadchip. Part of this population was also genotyped with the Bovine...... mixed model analysis. After Bonferroni correction 12, 372 SNP exhibited genome-wide significant associations with mastitis related traits. A total 61 QTL regions on 22 chromosomes associated with mastitis related traits were identified. The SNP with highest effect explained 5.6% of the variance...

  6. Context and clinical reasoning : Understanding the medical student perspective.

    Science.gov (United States)

    McBee, Elexis; Ratcliffe, Temple; Schuwirth, Lambert; O'Neill, Daniel; Meyer, Holly; Madden, Shelby J; Durning, Steven J

    2018-04-27

    Studies have shown that a physician's clinical reasoning performance can be influenced by contextual factors. We explored how the clinical reasoning performance of medical students was impacted by contextual factors in order to expand upon previous findings in resident and board certified physicians. Using situated cognition as the theoretical framework, our aim was to evaluate the verbalized clinical reasoning processes of medical students in order to describe what impact the presence of contextual factors has on their reasoning performance. Seventeen medical student participants viewed three video recordings of clinical encounters portraying straightforward diagnostic cases in internal medicine with explicit contextual factors inserted. Participants completed a computerized post-encounter form as well as a think-aloud protocol. Three authors analyzed verbatim transcripts from the think-aloud protocols using a constant comparative approach. After iterative coding, utterances were analyzed and grouped into categories and themes. Six categories and ten associated themes emerged, which demonstrated overlap with findings from previous studies in resident and attending physicians. Four overlapping categories included emotional disturbances, behavioural inferences about the patient, doctor-patient relationship, and difficulty with closure. Two new categories emerged to include anchoring and misinterpretation of data. The presence of contextual factors appeared to impact clinical reasoning performance in medical students. The data suggest that a contextual factor can be innate to the clinical scenario, consistent with situated cognition theory. These findings build upon our understanding of clinical reasoning performance from both a theoretical and practical perspective.

  7. The effects of socioeconomic status, clinical factors, and genetic ancestry on pulmonary tuberculosis disease in northeastern Mexico.

    Directory of Open Access Journals (Sweden)

    Bonnie N Young

    Full Text Available Diverse socioeconomic and clinical factors influence susceptibility to tuberculosis (TB disease in Mexico. The role of genetic factors, particularly those that differ between the parental groups that admixed in Mexico, is unclear. The objectives of this study are to identify the socioeconomic and clinical predictors of the transition from latent TB infection (LTBI to pulmonary TB disease in an urban population in northeastern Mexico, and to examine whether genetic ancestry plays an independent role in this transition. We recruited 97 pulmonary TB disease patients and 97 LTBI individuals from a public hospital in Monterrey, Nuevo León. Socioeconomic and clinical variables were collected from interviews and medical records, and genetic ancestry was estimated for a subset of 142 study participants from 291,917 single nucleotide polymorphisms (SNPs. We examined crude associations between the variables and TB disease status. Significant predictors from crude association tests were analyzed using multivariable logistic regression. We also compared genetic ancestry between LTBI individuals and TB disease patients at 1,314 SNPs in 273 genes from the TB biosystem in the NCBI BioSystems database. In crude association tests, 12 socioeconomic and clinical variables were associated with TB disease. Multivariable logistic regression analyses indicated that marital status, diabetes, and smoking were independently associated with TB status. Genetic ancestry was not associated with TB disease in either crude or multivariable analyses. Separate analyses showed that LTBI individuals recruited from hospital staff had significantly higher European genetic ancestry than LTBI individuals recruited from the clinics and waiting rooms. Genetic ancestry differed between individuals with LTBI and TB disease at SNPs located in two genes in the TB biosystem. These results indicate that Monterrey may be structured with respect to genetic ancestry, and that genetic

  8. The effects of socioeconomic status, clinical factors, and genetic ancestry on pulmonary tuberculosis disease in northeastern Mexico.

    Science.gov (United States)

    Young, Bonnie N; Rendón, Adrian; Rosas-Taraco, Adrian; Baker, Jack; Healy, Meghan; Gross, Jessica M; Long, Jeffrey; Burgos, Marcos; Hunley, Keith L

    2014-01-01

    Diverse socioeconomic and clinical factors influence susceptibility to tuberculosis (TB) disease in Mexico. The role of genetic factors, particularly those that differ between the parental groups that admixed in Mexico, is unclear. The objectives of this study are to identify the socioeconomic and clinical predictors of the transition from latent TB infection (LTBI) to pulmonary TB disease in an urban population in northeastern Mexico, and to examine whether genetic ancestry plays an independent role in this transition. We recruited 97 pulmonary TB disease patients and 97 LTBI individuals from a public hospital in Monterrey, Nuevo León. Socioeconomic and clinical variables were collected from interviews and medical records, and genetic ancestry was estimated for a subset of 142 study participants from 291,917 single nucleotide polymorphisms (SNPs). We examined crude associations between the variables and TB disease status. Significant predictors from crude association tests were analyzed using multivariable logistic regression. We also compared genetic ancestry between LTBI individuals and TB disease patients at 1,314 SNPs in 273 genes from the TB biosystem in the NCBI BioSystems database. In crude association tests, 12 socioeconomic and clinical variables were associated with TB disease. Multivariable logistic regression analyses indicated that marital status, diabetes, and smoking were independently associated with TB status. Genetic ancestry was not associated with TB disease in either crude or multivariable analyses. Separate analyses showed that LTBI individuals recruited from hospital staff had significantly higher European genetic ancestry than LTBI individuals recruited from the clinics and waiting rooms. Genetic ancestry differed between individuals with LTBI and TB disease at SNPs located in two genes in the TB biosystem. These results indicate that Monterrey may be structured with respect to genetic ancestry, and that genetic differences in TB

  9. Small Steps in Impacting Clinical Auscultation of Medical Students

    Directory of Open Access Journals (Sweden)

    Edem K. Binka MD

    2016-09-01

    Full Text Available The objective of this study was to determine if a training module improves the auscultation skills of medical students at the University of Maryland School of Medicine. Second-year medical students completed pretests on 12 heart sounds followed by a 45-minute training module on clinical auscultation, with retesting immediately after the intervention and during their third-year pediatrics clerkship. The control group consisted of third-year medical students who did not have the intervention. There was a 23% improvement in the identification of heart sounds postintervention (P < .001. Diastolic and valvular murmurs were poorly identified pre- and post intervention. There was a 6% decline in accuracy of the intervention group in the following academic year. The intervention group was superior to the control group at identifying the tested heart sounds (49% vs 43%, P = .04. The accuracy of second-year medical students in identifying heart sounds improved after a brief training module.

  10. "Balkan journal of medical genetics"--facts, editorial policies, practices and challenges.

    Science.gov (United States)

    Plaseska Karanfilska, Dijana; Sukarova Stefanovska, Emilija

    2014-01-01

    The Balkan Journal of Medical Genetics (BJMG) is an international, open access journal that publishes scientific papers covering different aspects of medical genetics. It is published by the Macedonian Academy of Sciences and Arts twice a year in both printed and electronic versions. BJMG is covered by many abstracting and indexing databases, including PubMed Central and Thomson Reuters. Although there are many journals in the field of medical genetics, only a few come from regions outside Western Europe and North America. Being one of these few journals, BJMG aims to promote genetics and research on this topic in the Balkan countries and beyond. BJMG's ultimate goal is to raise the scientific quality and metrics of the journal and provide a better place for BJMG in the community of scientific journals.

  11. Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

    Directory of Open Access Journals (Sweden)

    Joshua J. Todd

    2018-03-01

    Full Text Available The ryanodine receptor 1-related congenital myopathies (RYR1-RM comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint contractures to scoliosis, ophthalmoplegia, and respiratory involvement. Although there is currently no FDA-approved treatment for RYR1-RM, our group recently conducted the first clinical trial in this patient population (NCT02362425. This study aimed to characterize novel RYR1 variants with regard to genetic, laboratory, muscle magnetic resonance imaging (MRI, and clinical findings. Genetic and histopathology reports were obtained from participant’s medical records. Alamut Visual Software was used to determine if participant’s variants had been previously reported and to assess predicted pathogenicity. Physical exams, pulmonary function tests, T1-weighted muscle MRI scans, and blood measures were completed during the abovementioned clinical trial. Six novel variants (two de novo, three dominant, and one recessive were identified in individuals with RYR1-RM. Consistent with established RYR1-RM histopathology, cores were observed in all biopsies, except Case 6 who exhibited fiber-type disproportion. Muscle atrophy and impaired mobility with Trendelenburg gait were the most common clinical symptoms and were identified in all cases. Muscle MRI revealed substantial inter-individual variation in fatty infiltration corroborating the heterogeneity of the disease. Two individuals with dominant RYR1 variants exhibited respiratory insufficiency: a clinical symptom more commonly associated with recessive RYR1-RM cases. This study demonstrates that a genetics-led approach is suitable for the diagnosis of suspected RYR1-RM which can be corroborated through histopathology, muscle MRI and clinical examination.

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

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2013-01-30

    Jan 30, 2013 ... The genetic material controls life activities of the cell through regulating the synthesis .... work reactions and interactions: signal transduction disorders: e.g. ... Obviously, the balance between the pathological effects of mutation and the ... e- b-thalssemia. 6- Maternal serum level of alpha-fetoprotein (AFP) is.

  13. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

    Science.gov (United States)

    Hampel, Heather; Bennett, Robin L; Buchanan, Adam; Pearlman, Rachel; Wiesner, Georgia L

    2015-01-01

    The practice guidelines of the American College of Medical Genetics and Genomics (ACMG) and the National Society of Genetic Counselors (NSGC) are developed by members of the ACMG and NSGC to assist medical geneticists, genetic counselors, and other health-care providers in making decisions about appropriate management of genetic concerns, including access to and/or delivery of services. Each practice guideline focuses on a clinical or practice-based issue and is the result of a review and analysis of current professional literature believed to be reliable. As such, information and recommendations within the ACMG and NSGC joint practice guidelines reflect the current scientific and clinical knowledge at the time of publication, are current only as of their publication date, and are subject to change without notice as advances emerge. In addition, variations in practice, which take into account the needs of the individual patient and the resources and limitations unique to the institution or type of practice, may warrant approaches, treatments, and/or procedures that differ from the recommendations outlined in this guideline. Therefore, these recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. Genetic counseling practice guidelines are never intended to displace a health-care provider's best medical judgment based on the clinical circumstances of a particular patient or patient population. Practice guidelines are published by the ACMG or the NSGC for educational and informational purposes only, and neither the ACMG nor the NSGC "approve" or "endorse" any specific methods, practices, or sources of information.Cancer genetic consultation is an important aspect of the care of individuals at increased risk of a hereditary cancer syndrome. Yet several patient, clinician, and system-level barriers hinder identification of individuals appropriate for cancer genetics

  14. Clinical information system based on the medical smart card.

    Science.gov (United States)

    Danon, Y L; Saiag, E

    2000-07-01

    Over the last 5 years Israel has implemented a nationwide health insurance plan covering the entire population of the country. We have developed a clinical information system based on electronic-chip health care medical smart cards. Health care cards are used in several European countries and chip smart cards have been successful in many sectors. Our project involves the community use of the MSC, thereby enabling health care professionals to skillfully employ card systems in the health care sector. This system can easily arrange electronic medical charts in clinics, facilitating the confidential sharing of personal health databases among health professionals. To develop an MSC applicable for daily use in the community and hospital system. The MSC project, currently underway in Israel and the USA, will aid in determining the costs, benefits and feasibility of the MSC. Successful implementation of the MSC in chosen clinics will promote a nationwide willingness to adopt this promising technology.

  15. [Quality assurance and quality improvement in medical practice. Part 3: Clinical audit in medical practice].

    Science.gov (United States)

    Godény, Sándor

    2012-02-05

    The first two articles in the series were about the definition of quality in healthcare, the quality approach, the importance of quality assurance, the advantages of quality management systems and the basic concepts and necessity of evidence based medicine. In the third article the importance and basic steps of clinical audit are summarised. Clinical audit is an integral part of quality assurance and quality improvement in healthcare, that is the responsibility of any practitioner involved in medical practice. Clinical audit principally measures the clinical practice against clinical guidelines, protocols and other professional standards, and sometimes induces changes to ensure that all patients receive care according to principles of the best practice. The clinical audit can be defined also as a quality improvement process that seeks to identify areas for service improvement, develop and carry out plans and actions to improve medical activity and then by re-audit to ensure that these changes have an effect. Therefore, its aims are both to stimulate quality improvement interventions and to assess their impact in order to develop clinical effectiveness. At the end of the article key points of quality assurance and improvement in medical practice are summarised.

  16. [Clinical characteristics and preimplantation genetic diagnosis for male Robertsonian translocations].

    Science.gov (United States)

    Huang, Jin; Lian, Ying; Qiao, Jie; Liu, Ping

    2012-08-18

    To explore the clinical characteristics and the preimplantation genetic diagnosis (PGD) for male Robertsonian translocations. From Jan 2005 to Oct 2011, 96 PGD cycles of 80 male Robertsonian translocations were performed at the Center of Reproductive Medicine of Peking University Third Hospital, Beijing. All the couples were involved in assisted reproductive therapy because of oligozoospermia or repeated abortions. Pregnancy results and clinical characteristics were analyzed in this study. Of all the 80 Robertsonian translocation couples, 62 (77.50%, 62/80) couples suffered from primary infertility due to severe oligoospermia and 8 (10%, 8/80) couples suffered from secondary infertility due to oligoospermia. Moreover, 10 (12.50%, 10/80) couples had recurrent spontaneous abortion. Of all the 80 male Robertsonian translocations, 50 were (13; 14) translocations and 15 (14; 21) translocations. The study showed that 79 PGD cycles had the balanced embryos to transfer and 25 cycles resulted in clinical pregnancies. The clinical pregnancy rate per transfer cycle was 31.65% (25 of 79). Now, 18 couples had 21 viable infants and 3 were ongoing pregnant. Oligozoospermia is the main factor for the infertility of the male Robertsonian translocations. Artificial reproductive techniques can solve their reproductive problems. Moreover, PGD will decrease the risk of recurrent spontaneous abortion and the malformations.

  17. Pre-clinical medical student experience in a pediatric pulmonary clinic

    Directory of Open Access Journals (Sweden)

    Thomas G. Saba

    2015-11-01

    Full Text Available Objective: Our objective was to evaluate the educational value of introducing pre-clinical medical students to pediatric patients and their families in a subspecialty clinic setting. Methods: First- and second-year medical students at the University of Michigan seeking clinical experience outside of the classroom attended an outpatient pediatric pulmonary clinic. Evaluation of the experience consisted of pre- and post-clinic student surveys and post-clinic parent surveys with statements employing a four-point Likert scale as well as open-ended questions. Results: Twenty-eight first-year students, 6 second-year students, and 33 parents participated in the study. Post-clinic statement scores significantly increased for statements addressing empathic attitudes, confidence communicating with children and families, comfort in the clinical environment, and social awareness. Scores did not change for statements addressing motivation, a sense of team membership, or confidence with career goals. Students achieved their goals of gaining experience interacting with patients, learning about pulmonary diseases, and observing clinic workflow. Parents felt that they contributed to student education and were not inconvenienced. Conclusions: Students identified several educational benefits of exposure to a single pediatric pulmonary clinic. Patients and families were not inconvenienced by the participation of a student. Additional studies are warranted to further investigate the value of this model of pre-clinical medical student exposure to subspecialty pediatrics.

  18. 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.

  19. Replication of clinical innovations in multiple medical practices.

    Science.gov (United States)

    Henley, N S; Pearce, J; Phillips, L A; Weir, S

    1998-11-01

    Many clinical innovations had been successfully developed and piloted in individual medical practice units of Kaiser Permanente in North Carolina during 1995 and 1996. Difficulty in replicating these clinical innovations consistently throughout all 21 medical practice units led to development of the interdisciplinary Clinical Innovation Implementation Team, which was formed by using existing resources from various departments across the region. REPLICATION MODEL: Based on a model of transfer of best practices, the implementation team developed a process and tools (master schedule and activity matrix) to quickly replicate successful pilot projects throughout all medical practice units. The process involved the following steps: identifying a practice and delineating its characteristics and measures (source identification); identifying a team to receive the (new) practice; piloting the practice; and standardizing, including the incorporation of learnings. The model includes the following components for each innovation: sending and receiving teams, an innovation coordinator role, an innovation expert role, a location expert role, a master schedule, and a project activity matrix. Communication depended on a partnership among the location experts (local knowledge and credibility), the innovation coordinator (process expertise), and the innovation experts (content expertise). Results after 12 months of working with the 21 medical practice units include integration of diabetes care team services into the practices, training of more than 120 providers in the use of personal computers and an icon-based clinical information system, and integration of a planwide self-care program into the medical practices--all with measurable improved outcomes. The model for sequential replication and the implementation team structure and function should be successful in other organizational settings.

  20. 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.

    2014-01-01

    Given the importance of Africa to studies of human origins and disease susceptibility, detailed characterisation of African genetic diversity is needed. The African Genome Variation Project (AGVP) provides a resource to help design, implement and interpret genomic studies in sub-Saharan Africa (SSA) and worldwide. The AGVP represents dense genotypes from 1,481 and whole genome sequences (WGS) from 320 individuals across SSA. Using this resource, we find novel evidence of complex, regionally distinct hunter-gatherer and Eurasian admixture across SSA. We identify new loci under selection, including for malaria and hypertension. We show that modern imputation panels can identify association signals at highly differentiated loci across populations in SSA. Using WGS, we show further improvement in imputation accuracy supporting efforts for large-scale sequencing of diverse African haplotypes. Finally, we present an efficient genotype array design capturing common genetic variation in Africa, showing for the first time that such designs are feasible. PMID:25470054

  1. Building clinical data groups for electronic medical record in China.

    Science.gov (United States)

    Tu, Haibo; Yu, Yingtao; Yang, Peng; Tang, Xuejun; Hu, Jianping; Rao, Keqin; Pan, Feng; Xu, Yongyong; Liu, Danhong

    2012-04-01

    This article aims at building clinical data groups for Electronic Medical Records (EMR) in China. These data groups can be reused as basic information units in building the medical sheets of Electronic Medical Record Systems (EMRS) and serve as part of its implementation guideline. The results were based on medical sheets, the forms that are used in hospitals, which were collected from hospitals. To categorize the information in these sheets into data groups, we adopted the Health Level 7 Clinical Document Architecture Release 2 Model (HL7 CDA R2 Model). The regulations and legal documents concerning health informatics and related standards in China were implemented. A set of 75 data groups with 452 data elements was created. These data elements were atomic items that comprised the data groups. Medical sheet items contained clinical records information and could be described by standard data elements that exist in current health document protocols. These data groups match different units of the CDA model. Twelve data groups with 87 standardized data elements described EMR headers, and 63 data groups with 405 standardized data elements constituted the body. The later 63 data groups in fact formed the sections of the model. The data groups had two levels. Those at the first level contained both the second level data groups and the standardized data elements. The data groups were basically reusable information units that served as guidelines for building EMRS and that were used to rebuild a medical sheet and serve as templates for the clinical records. As a pilot study of health information standards in China, the development of EMR data groups combined international standards with Chinese national regulations and standards, and this was the most critical part of the research. The original medical sheets from hospitals contain first hand medical information, and some of their items reveal the data types characteristic of the Chinese socialist national health system

  2. Knowledge, group-based medical mistrust, future expectations, and perceived disadvantages of medical genetic testing: perspectives of Black African immigrants/refugees.

    Science.gov (United States)

    Buseh, A; Kelber, S; Millon-Underwood, S; Stevens, P; Townsend, L

    2014-01-01

    Reasons for low participation of ethnic minorities in genetic studies are multifactorial and often poorly understood. Based on published literature, participation in genetic testing is low among Black African immigrants/refugees although they are purported to bear disproportionate disease burden. Thus, research involving Black African immigrant/refugee populations that examine their perspectives on participating in genetic studies is needed. This report examines and describes the knowledge of medical genetics, group-based medical mistrust, and future expectations of genetic research and the influence of these measures on the perceived disadvantages of genetic testing among Black African immigrants/refugees. Using a cross-sectional survey design, a nonprobability sample (n = 212) of Black African immigrants/refugees was administered a questionnaire. Participants ranged in age from 18 to 61 years (mean = 38.91, SD = 9.78). The questionnaire consisted of 5 instruments: (a) sociodemographic characteristics, (b) Knowledge of Medical Genetics scale, (c) Group-Based Medical Mistrust Scale, (d) Future Expectations/Anticipated Consequences of Genetics Research scale, and (e) Perceived Disadvantages of Genetic Testing scale. Participants were concerned that genetic research may result in scientists 'playing God,' interfering with the natural order of life. In multivariate analyses, the perceived disadvantages of genetic testing increased as medical mistrust and anticipated negative impacts of genetic testing increased. Increase in genetic knowledge contributed to a decrease in perceived disadvantages. Our findings suggest that recruitment of Black African immigrants/refugees in genetic studies should address potential low knowledge of genetics, concerns about medical mistrust, the expectations/anticipated consequences of genetic research, and the perceived disadvantages of genetic testing.

  3. Source of learning basic clinical skills by medical interns Tehran University of Medical Sciences

    Directory of Open Access Journals (Sweden)

    Meshkani Z

    2004-07-01

    Full Text Available Background: Effective clinical teaching is a major objective in general practitioner’s education at medical schools. Purpose: To identify the sources of clinical skills learning that medical student experience Methods: In this cross sectional study, interns of Tehran medical university who spent at least 12 months of their internship answered a questionnaire on the sources of clinical skills training. Chi2 test was used to examine the association of source of learning and students,’ specification such as sex, score of pre –internship exam, and marital status. Results: All 250 interns who were eligible participated. Over all 46.60% interns learned their clinical skills from residents or clinical teachers, 29.61% observed others performing the procedures, 16.25 learned the skills from hospital staff or nurses, 7.54% practiced their knowledge when confronted to an emergency situation Conclusion: Our results warrant a more attentive approach to clinical skills (specially procedural skills training Key words: LEARNING RESOURCES

  4. Clinical phenotype and genetic mutation of one case with head tremor and cerebellar atrophy

    Directory of Open Access Journals (Sweden)

    Kun-ming XIE

    2017-07-01

    Full Text Available Objective To make the diagnosis for a patient presented with head tremor and cerebellar atrophy by integrating clinical features and accessory examination with genetic testing and to explore the interpretation of genetic testing results.  Methods A 30-year-old male patient's medical information, clinical pheontype, family history and accessory examinations were collected. The next?generation sequencing (NGS of exons in 3994 causative genes of Mendelian inheritance diseases and the family tree verification were carried out. China Human Phenotype Ontology (CHPO, Phenomizer, Ensembl and Online Mendelian Inheritance in Man (OMIM database were used to interpret the genetic test results.  Results The patient carried heterozygous mutation of spinocerebellar ataxia type 19 (SCA19 related KCND3 gene c.1057A > G (p. Ser353Gly, but his parents did not carry this mutation. The patient also carried heterozygous mutation of parkinsonism type 20 (PARK20 related SYNJ1 gene c.4436C > T (p.Thr1479Ile which was also seen in his mother. Phenotypic similarity analysis showed the patient's phenotype was correspond with the phenotype of SCA19, and the variation locus of KCND3 gene c.1057A > G was highly conservative with homologous gene in different species.  Conclusions By means of the integration of clinical phenotype with the result of genetic test, KCND3 gene c.1057A > G (p.Ser353Gly carried in the patient is the pathogenic mutation. DOI: 10.3969/j.issn.1672-6731.2017.07.007

  5. Genetic and Medical Considerations of Autism: A Literature Review.

    Science.gov (United States)

    Silver, Kathi O.

    This literature review, from 1990 to the present, discusses the characteristics of autism and the comorbidity of mental retardation and autism. Specific medical syndromes that complement the heterogeneity concept are described, including epilepsy, fragile X syndrome, Rett syndrome, tuberous sclerosis, and Asperger syndrome. The paper presents some…

  6. [Genetic mutation and clinical features of osteogenesis imperfecta type V].

    Science.gov (United States)

    Guan, Shizhen; Bai, Xue; Wang, Yi; Liu, Zhigang; Ren, Xiuzhi; Zhang, Tianke; Ju, Mingyan; Li, Keqiu; Li, Guang

    2017-12-10

    To explore genetic mutations and clinical features of osteogenesis imperfecta type V. Clinical record of five patients (including one familial case) with osteogenesis imperfecta type V were retrospectively analyzed. Peripheral blood samples of the patients, one family member, as well as healthy controls were collected. Mutation of IFITM5 gene was identified by PCR amplification and Sanger sequencing. A heterozygous mutation (c.-14C>T) in the 5-UTR of the IFITM5 gene was identified in all of the patients and one mother. The clinical findings included frequent fractures and spine and/or extremities deformities, absence of dentinogenesis imperfecta, absence of hearing impairment, and blue sclera in 1 case. Radiographic findings revealed calcification of the interosseous membrane between the radius-ulna in all cases. Hyperplastic callus formation was found in 3 cases. Four had radial-head dislocation. A single heterozygous mutation c.-14C>T was found in the 5-UTR of the IFITM5 gene in 5 patients with osteogensis imperfecta type V. The patients showed specific radiological features including calcification of interosseous membrane, hyperplastic callus formation, and radial-head dislocation.

  7. Statin-associated myopathy: from genetic predisposition to clinical management.

    Science.gov (United States)

    Vrablik, M; Zlatohlavek, L; Stulc, T; Adamkova, V; Prusikova, M; Schwarzova, L; Hubacek, J A; Ceska, R

    2014-01-01

    Statin-associated myopathy (SAM) represents a broad spectrum of disorders from insignificant myalgia to fatal rhabdomyolysis. Its frequency ranges from 1-5 % in clinical trials to 15-20 % in everyday clinical practice. To a large extent, these variations can be explained by the definition used. Thus, we propose a scoring system to classify statin-induced myopathy according to clinical and biochemical criteria as 1) possible, 2) probable or 3) definite. The etiology of this disorder remains poorly understood. Most probably, an underlying genetic cause is necessary for overt SAM to develop. Variants in a few gene groups that encode proteins involved in: i) statin metabolism and distribution (e.g. membrane transporters and enzymes; OATP1B1, ABCA1, MRP, CYP3A4), ii) coenzyme Q10 production (e.g. COQ10A and B), iii) energy metabolism of muscle tissue (e.g. PYGM, GAA, CPT2) and several others have been proposed as candidates which can predispose to SAM. Pharmacological properties of individual statin molecules (e.g. lipophilicity, excretion pathways) and patients´ characteristics influence the likelihood of SAM development. This review summarizes current data as well as our own results.

  8. Clinical features and genetic analysis of tuberous sclerosis pedigrees

    Directory of Open Access Journals (Sweden)

    LI Ya-qin

    2012-06-01

    Full Text Available Objective In order to understand tuberous sclerosis complex better, the clinical manifestation, imaging characteristics, and genetic characteristics of tuberous sclerosis complex from 3 pedigrees were investigated. Methods The clinical data of patients from 3 tuberous sclerosis families were collected. The gene mutation type of TSC2 of proband in pedigree one was determined by PCR and direct gene sequencing. Results All of the 3 probands went to our clinic for the reason of epilepsy. Brain imaging examination noted intracranial nodular calcification. EEG showed comprehensive spines and slow waves, sharp waves. The pedigree 1 has family history, two male patients and 3 female patients, all had facial angiofibromas and epilepsy. Gene mutation analysis of TSC2 demonstrated the c.1444-2A > C mutation in index patient. All the 3 index patients had mental retardation, autism and hypopigmented macule. Conclusion For infants and young children with epilepsy as the first symptom, accompanied by mental retardation, autism, facial angiofibromas or hypopigmented macule and other skin abnormalities, brain imaging examination noted intracranial nodular calcification are highly suggestive of tuberous sclerosis complex. TSC1 and TSC2 gene analysis contribute to the diagnosis of this disease, genentic counseling and prenatal diagnosis.

  9. Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances.

    Science.gov (United States)

    Fernández-Falgueras, Anna; Sarquella-Brugada, Georgia; Brugada, Josep; Brugada, Ramon; Campuzano, Oscar

    2017-01-29

    Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden cardiac death in older and younger individuals. Two groups of familial diseases are responsible for sudden cardiac death: cardiomyopathies (mainly hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy) and channelopathies (mainly long QT syndrome, Brugada syndrome, short QT syndrome, and catecholaminergic polymorphic ventricular tachycardia). This review focuses on cardiac channelopathies, which are characterized by lethal arrhythmias in the structurally normal heart, incomplete penetrance, and variable expressivity. Arrhythmias in these diseases result from pathogenic variants in genes encoding cardiac ion channels or associated proteins. Due to a lack of gross structural changes in the heart, channelopathies are often considered as potential causes of death in otherwise unexplained forensic autopsies. The asymptomatic nature of channelopathies is cause for concern in family members who may be carrying genetic risk factors, making the identification of these genetic factors of significant clinical importance.

  10. Clinical Characteristics and Genetic Variability of Human Rhinovirus in Mexico

    Directory of Open Access Journals (Sweden)

    Hilda Montero

    2012-01-01

    Full Text Available Human rhinovirus (HRV is a leading cause of acute respiratory infection (ARI in young children and infants worldwide and has a high impact on morbidity and mortality in this population. Initially, HRV was classified into two species: HRV-A and HRV-B. Recently, a species called HRV-C and possibly another species, HRV-D, were identified. In Mexico, there is little information about the role of HRV as a cause of ARI, and the presence and importance of species such as HRV-C are not known. The aim of this study was to determine the clinical characteristics and genetic variability of HRV in Mexican children. Genetic characterization was carried out by phylogenetic analysis of the 5′-nontranslated region (5′-NTR of the HRV genome. The results show that the newly identified HRV-C is circulating in Mexican children more frequently than HRV-B but not as frequently as HRV-A, which was the most frequent species. Most of the cases of the three species of HRV were in children under 2 years of age, and all species were associated with very mild and moderate ARI.

  11. Clinical and genetic aspects of testicular germ cell tumours

    Directory of Open Access Journals (Sweden)

    Holzik Martijn

    2008-02-01

    Full Text Available Abstract In this paper we review clinical and genetic aspects of testicular germ cell tumours (TGCTs. TGCT is the most common type of malignant disorder in men aged 15-40 years. Its incidence has increased sharply in recent years. Fortunately, survival of patients with TGCT has improved enormously, which can chiefly be attributed to the cisplatin-based polychemotherapy that was introduced in the nineteen eighties to treat patients with metastasized TGCT. In addition, new strategies have been developed in the surgical approach to metastasized/non-metastasized TGCT and alterations have been made to the radiotherapy technique and radiation dose for seminoma. Family history of TGCT is among the strongest risk factors for this tumour type. Although this fact and others suggest the existence of genetic predisposition to develop TGCT, no germline mutations conferring high risk of developing TGCT have been identified so far. A small deletion, referred to as gr/gr, identified on the Y chromosome is probably associated with only a modest increase in TGCT risk, and linkage of familial TGCT to the Xq27 region has not been confirmed yet. Whether highly penetrant TGCT-predisposing mutations truly exist or familial clustering of TGCT can be explained by combinations of weak predispositions, shared in utero or postnatal risks factors and coincidental somatic mutations is an intriguing puzzle, still waiting to be solved.

  12. Clinical and genetic aspects of testicular germ cell tumours.

    Science.gov (United States)

    Lutke Holzik, Martijn F; Sijmons, Rolf H; Hoekstra-Weebers, Josette Ehm; Sleijfer, Dirk T; Hoekstra, Harald J

    2008-02-15

    In this paper we review clinical and genetic aspects of testicular germ cell tumours (TGCTs). TGCT is the most common type of malignant disorder in men aged 1540 years. Its incidence has increased sharply in recent years. Fortunately, survival of patients with TGCT has improved enormously, which can chiefly be attributed to the cisplatin-based polychemotherapy that was introduced in the nineteen eighties to treat patients with metastasized TGCT. In addition, new strategies have been developed in the surgical approach to metastasized/non-metastasized TGCT and alterations have been made to the radiotherapy technique and radiation dose for seminoma. Family history of TGCT is among the strongest risk factors for this tumour type. Although this fact and others suggest the existence of genetic predisposition to develop TGCT, no germline mutations conferring high risk of developing TGCT have been identified so far. A small deletion, referred to as gr/gr, identified on the Y chromosome is probably associated with only a modest increase in TGCT risk, and linkage of familial TGCT to the Xq27 region has not been confirmed yet. Whether highly penetrant TGCT-predisposing mutations truly exist or familial clustering of TGCT can be explained by combinations of weak predispositions, shared in utero or postnatal risks factors and coincidental somatic mutations is an intriguing puzzle, still waiting to be solved.

  13. Patient-Centered Care in Breast Cancer Genetic Clinics

    Directory of Open Access Journals (Sweden)

    Anne Brédart

    2018-02-01

    Full Text Available With advances in breast cancer (BC gene panel testing, risk counseling has become increasingly complex, potentially leading to unmet psychosocial needs. We assessed psychosocial needs and correlates in women initiating testing for high genetic BC risk in clinics in France and Germany, and compared these results with data from a literature review. Among the 442 counselees consecutively approached, 212 (83% in France and 180 (97% in Germany, mostly BC patients (81% and 92%, respectively, returned the ‘Psychosocial Assessment in Hereditary Cancer’ questionnaire. Based on the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA BC risk estimation model, the mean BC lifetime risk estimates were 19% and 18% in France and Germany, respectively. In both countries, the most prevalent needs clustered around the “living with cancer” and “children-related issues” domains. In multivariate analyses, a higher number of psychosocial needs were significantly associated with younger age (b = −0.05, higher anxiety (b = 0.78, and having children (b = 1.51, but not with country, educational level, marital status, depression, or loss of a family member due to hereditary cancer. These results are in line with the literature review data. However, this review identified only seven studies that quantitatively addressed psychosocial needs in the BC genetic counseling setting. Current data lack understandings of how cancer risk counseling affects psychosocial needs, and improves patient-centered care in that setting.

  14. Estimation of population doses from diagnostic medical examinations in Japan, 1974. II. Estimation of genetically significant dose

    Energy Technology Data Exchange (ETDEWEB)

    Hashizume, T; Maruyama, T; Kumamoto, Y [National Inst. of Radiological Sciences, Chiba (Japan)

    1976-03-01

    The genetically significant dose from radiographic and fluoroscopic examination in Japan has been estimated based on a 1974 nation wide survey of randomly sampled hospitals and clinics. The gonad dose during x-ray diagnosis was determined with an ionization chamber placed at the positions of ovary and testis in a Rando phantom. The instrumented phantom was irradiated with medical diagnostic x-rays on the basis of the exposure data on the patients selected in the nation wide survey. In the calculation of the genetically significant dose, the child expectancy of the patients that undergo each particular type of examination was assumed to be same as that of the general population. The resultant genetically significant dose was 11.1 and 5.43 mrad per person per year for radiography and fluoroscopy, respectively. These values were compared with those of 1960 and 1969. Though the number of examinations per year shows a yearly increase, the genetically significant dose is gradually on the decrease. This may be due to technical improvements in medical radiological practices.

  15. The ecology and evolution of animal medication: genetically fixed response versus phenotypic plasticity.

    Science.gov (United States)

    Choisy, Marc; de Roode, Jacobus C

    2014-08-01

    Animal medication against parasites can occur either as a genetically fixed (constitutive) or phenotypically plastic (induced) behavior. Taking the tritrophic interaction between the monarch butterfly Danaus plexippus, its protozoan parasite Ophryocystis elektroscirrha, and its food plant Asclepias spp. as a test case, we develop a game-theory model to identify the epidemiological (parasite prevalence and virulence) and environmental (plant toxicity and abundance) conditions that predict the evolution of genetically fixed versus phenotypically plastic forms of medication. Our model shows that the relative benefits (the antiparasitic properties of medicinal food) and costs (side effects of medicine, the costs of searching for medicine, and the costs of plasticity itself) crucially determine whether medication is genetically fixed or phenotypically plastic. Our model suggests that animals evolve phenotypic plasticity when parasite risk (a combination of virulence and prevalence and thus a measure of the strength of parasite-mediated selection) is relatively low to moderately high and genetically fixed medication when parasite risk becomes very high. The latter occurs because at high parasite risk, the costs of plasticity are outweighed by the benefits of medication. Our model provides a simple and general framework to study the conditions that drive the evolution of alternative forms of animal medication.

  16. Genetic recombination of the hepatitis C virus: clinical implications.

    Science.gov (United States)

    Morel, V; Fournier, C; François, C; Brochot, E; Helle, F; Duverlie, G; Castelain, S

    2011-02-01

    Genetic recombination is a well-known feature of RNA viruses that plays a significant role in their evolution. Although recombination is well documented for Flaviviridae family viruses, the first natural recombinant strain of hepatitis C virus (HCV) was identified as recently as 2002. Since then, a few other natural inter-genotypic, intra-genotypic and intra-subtype recombinant HCV strains have been described. However, the frequency of recombination may have been underestimated because not all known HCV recombinants are screened for in routine practice. Furthermore, the choice of treatment regimen and its predictive outcome remain problematic as the therapeutic strategy for HCV infection is genotype dependent. HCV recombination also raises many questions concerning its mechanisms and effects on the epidemiological and physiopathological features of the virus. This review provides an update on recombinant HCV strains, the process that gives rise to recombinants and clinical implications of recombination. © 2010 Blackwell Publishing Ltd.

  17. Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder.

    Science.gov (United States)

    Pavlovic, Sasha; Krunic, Aleksandar L; Bulj, Tanja K; Medenica, Maria M; Fong, Kenneth; Arita, Ken; McGrath, John A

    2012-01-01

    Acral peeling skin syndrome (APSS) is a rare, autosomal, recessive genodermatosis characterized by painless spontaneous exfoliation of the skin of the hands and feet at a subcorneal or intracorneal level. It usually presents at birth or appears later in childhood or early adulthood. Some cases result from mutations in the TGM5 gene that encodes transglutaminase 5, which has an important role in cross-linking cornified cell envelope proteins. We report a new APSS pedigree from Jordan that contains at least 10 affected family members, although sequencing of the TGM5 gene failed to disclose any pathogenic mutation(s). On the basis of probable consanguinity, we performed homozygosity mapping and identified areas of homozygosity on chromosomes 1, 6, 10, 13, and 16, although none of the intervals contained genes of clear relevance to cornification. APSS is a clinically and genetically heterogeneous disorder, and this Jordanian pedigree underscores the likelihood of still further heterogeneity. © 2011 Wiley Periodicals, Inc.

  18. Medical Advances in Diagnosing Neurological and Genetic Disorders

    OpenAIRE

    Simon B. N. Thompson

    2016-01-01

    Retinoblastoma is a rare type of childhood genetic cancer that affects children worldwide. The diagnosis is often missed due to lack of education and difficulty in presentation of the tumor. Frequently, the tumor on the retina is noticed by photography when the red-eye flash, commonly seen in normal eyes, is not produced. Instead, a yellow or white colored patch is seen or the child has a noticeable strabismus. Early detection can be life-saving though often results in removal of the affected...

  19. Automated patient and medication payment method for clinical trials

    Directory of Open Access Journals (Sweden)

    Yawn BP

    2013-01-01

    Full Text Available Barbara P Yawn,1 Suzanne Madison,1 Susan Bertram,1 Wilson D Pace,2 Anne Fuhlbrigge,3 Elliot Israel,3 Dawn Littlefield,1 Margary Kurland,1 Michael E Wechsler41Olmsted Medical Center, Department of Research, Rochester, MN, 2UCDHSC, Department of Family Medicine, University of Colorado Health Science Centre, Aurora, CO, 3Brigham and Women's Hospital, Pulmonary and Critical Care Division, Boston, MA, 4National Jewish Medical Center, Division of Pulmonology, Denver, CO, USABackground: Published reports and studies related to patient compensation for clinical trials focus primarily on the ethical issues related to appropriate amounts to reimburse for patient's time and risk burden. Little has been published regarding the method of payment for patient participation. As clinical trials move into widely dispersed community practices and more complex designs, the method of payment also becomes more complex. Here we review the decision process and payment method selected for a primary care-based randomized clinical trial of asthma management in Black Americans.Methods: The method selected is a credit card system designed specifically for clinical trials that allows both fixed and variable real-time payments. We operationalized the study design by providing each patient with two cards, one for reimbursement for study visits and one for payment of medication costs directly to the pharmacies.Results: Of the 1015 patients enrolled, only two refused use of the ClinCard, requesting cash payments for visits and only rarely a weekend or fill-in pharmacist refused to use the card system for payment directly to the pharmacy. Overall, the system has been well accepted by patients and local study teams. The ClinCard administrative system facilitates the fiscal accounting and medication adherence record-keeping by the central teams. Monthly fees are modest, and all 12 study institutional review boards approved use of the system without concern for patient

  20. [Genetic, epidemiologic and clinical study of familial prostate cancer].

    Science.gov (United States)

    Valéri, Antoine

    2002-01-01

    Prostate cancer (CaP) is the most frequent cancer among men over 50 and its frequency increases with age. It has become a significant public health problem due to the ageing population. Epidemiologists report familial aggregation in 15 to 25% of cases and inherited susceptibility with autosomal dominant or X-linked model in 5 to 10% of cases. Clinical and biological features of familial CaP remain controversial. To perform: (1) Genetic study of familial Cap (mapping of susceptibility genes), (2) epidemiologic study (prevalence, associated cancers in the genealogy, model of transmission), and clinical study of familial CaP. (I) conducting a nationwide family collection (ProGène study) with 2+ CaP we have performed a genomewide linkage analysis and identified a predisposing locus on 1q42.2-43 named PCaP (Predisposing to Cancer of the Prostate); (II) conducting a systematic genealogic analysis of 691 CaP followed up in 3 University departments of urology (Hospitals of Brest, Paris St Louis and Nancy) we have observed: (1) 14.2% of familial and 3.6% of hereditary CaP, (2) a higher risk of breast cancer in first degree relatives of probands (CaP+) in familial CaP than in sporadic CaP and in early onset CaP (< 55 years) when compared with late onset CaP ([dG]75 years), (3) an autosomal dominant model with brother-brother dependance), (4) the lack of specific clinical or biological feature (except for early onset) in hereditary CaP when compared with sporadic CaP. (1) The mapping of a susceptibility locus will permit the cloning of a predisposing gene on 1q42.2-43, offer the possibility of genetic screening in families at risk and permit genotype/phenotype correlation studies; (2) the transmission model will improve parameteric linkage studies; (3) the lack of distinct specific clinical patterns suggest diagnostic and follow up modalities for familial and hereditary CaP similar to sporadic cancer while encouraging early screening of families at risk, given the earlier

  1. Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.

    Science.gov (United States)

    Chu, Xueying; Zhu, Yan; Wang, Ou; Nie, Min; Quan, Tingting; Xue, Yu; Wang, Wenbo; Jiang, Yan; Li, Mei; Xia, Weibo; Xing, Xiaoping

    2018-02-01

    Pseudohypoparathyroidism (PHP) is caused by mutations and epimutations in the GNAS locus, and characterized by the possibility of resistance to multiple hormones and Albright's hereditary osteodystrophy. PHP can be classified into the forms 1A/C, sporadic 1B and familial 1B. To obtain an overall view of the clinical and genetic characteristics of the Chinese PHP patient population. From 2000 to 2016, 120 patients were recruited and studied using Sanger sequencing, methylation-specific multiple ligation-dependent probe amplification (MS-MLPA) and combined bisulfite restriction analysis (COBRA). Of these patients, 104 had positive molecular alterations indicative of certain forms of PHP and were included in data analysis. Clinical and laboratory features were compared between PHP1A/C and PHP1B patients. Ten PHP1A/C, 21 familial PHP1B and 73 sporadic PHP1B patients were identified. Four novel GNAS mutations were discovered in these patients, including c.1038+1G>T, c.530+2T>C, c.880_883delCAAG and c.311_312delAAG, insT. The most common symptoms in this series were recurrent tetany (89.4%) and epilepsy (47.1%). The prevalence of weight excess increased with age for PHP1B (10%-35%) and PHP1A/C (50%-75%). Intracranial calcification had a prevalence of 94.6% and correlated with seizures (r = .227, P = .029). Cataracts occurred in 56.2% PHP patients, and there was a trend towards longer disease duration in patients with cataracts (P = .051). Statistically significant differences (P PHP1B and PHP1A/C patients, including age of onset (10 vs 7 year), short stature (21.3% vs 70%), rounded face (60.6% vs 100%), brachydactyly (25.5% vs 100%), ectopic ossification (1.1% vs 40%) and TSH resistance (44.6% vs 90%), respectively. This study is the largest single-centre series of PHP patients and summarizes the clinical and genetic features of the Chinese PHP population. While there was substantial clinical overlap between PHP1A/C and PHP1B, differences in disease progression

  2. 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.

  3. 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.

    2015-01-01

    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.

  4. Transforming Medical Assessment: Integrating Uncertainty Into the Evaluation of Clinical Reasoning in Medical Education.

    Science.gov (United States)

    Cooke, Suzette; Lemay, Jean-Francois

    2017-06-01

    In an age where practicing physicians have access to an overwhelming volume of clinical information and are faced with increasingly complex medical decisions, the ability to execute sound clinical reasoning is essential to optimal patient care. The authors propose two concepts that are philosophically paramount to the future assessment of clinical reasoning in medicine: assessment in the context of "uncertainty" (when, despite all of the information that is available, there is still significant doubt as to the best diagnosis, investigation, or treatment), and acknowledging that it is entirely possible (and reasonable) to have more than "one correct answer." The purpose of this article is to highlight key elements related to these two core concepts and discuss genuine barriers that currently exist on the pathway to creating such assessments. These include acknowledging situations of uncertainty, creating clear frameworks that define progressive levels of clinical reasoning skills, providing validity evidence to increase the defensibility of such assessments, considering the comparative feasibility with other forms of assessment, and developing strategies to evaluate the impact of these assessment methods on future learning and practice. The authors recommend that concerted efforts be directed toward these key areas to help advance the field of clinical reasoning assessment, improve the clinical care decisions made by current and future physicians, and have positive outcomes for patients. It is anticipated that these and subsequent efforts will aid in reaching the goal of making future assessment in medical education more representative of current-day clinical reasoning and decision making.

  5. 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.

  6. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    phenylketonuria; phenylalanine hydroxylase; gene mutation; human genetics. ... of Clinical Medical Research, Urumqi General Hospital of Lanzhou Command, PLA, Urumqi 830000, People's Republic of China; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing 100020, People's Republic of China ...

  7. Using systematically observed clinical encounters (SOCEs to assess medical students’ skills in clinical settings

    Directory of Open Access Journals (Sweden)

    George R Bergus

    2010-11-01

    Full Text Available George R Bergus1–3, Jerold C Woodhead4, Clarence D Kreiter2,51Performance Based Assessment Program, Office of Student Affairs and Curriculum, 2Department of Family Medicine, 3Department of Psychiatry, 4Department of Pediatrics, 5Office of Consultation and Research in Medical Education, Roy J and Lucille A Carver College of Medicine, The University of Iowa, Iowa City, IA, USAIntroduction: The Objective Structured Clinical Examination (OSCE is widely used to assess the clinical performance of medical students. However, concerns related to cost, availability, and validity, have led educators to investigate alternatives to the OSCE. Some alternatives involve assessing students while they provide care to patients – the mini-CEX (mini-Clinical Evaluation Exercise and the Long Case are examples. We investigated the psychometrics of systematically observed clinical encounters (SOCEs, in which physicians are supplemented by lay trained observers, as a means of assessing the clinical performances of medical students.Methods: During the pediatrics clerkship at the University of Iowa, trained lay observers assessed the communication skills of third-year medical students using a communication checklist while the students interviewed and examined pediatric patients. Students then verbally presented their findings to faculty, who assessed students’ clinical skills using a standardized form. The reliability of the combined communication and clinical skills scores was calculated using generalizability theory.Results: Fifty-one medical students completed 199 observed patient encounters. The mean combined clinical and communication skills score (out of a maximum 45 points was 40.8 (standard deviation 3.3. The calculated reliability of the SOCE scores, using generalizability theory, from 10 observed patient encounters was 0.81. Students reported receiving helpful feedback from faculty after 97% of their observed clinical encounters.Conclusion: The SOCE can

  8. 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. © 2015 American Society for Clinical Pharmacology and Therapeutics.

  9. Evolving rule-based systems in two medical domains using genetic programming.

    Science.gov (United States)

    Tsakonas, Athanasios; Dounias, Georgios; Jantzen, Jan; Axer, Hubertus; Bjerregaard, Beth; von Keyserlingk, Diedrich Graf

    2004-11-01

    To demonstrate and compare the application of different genetic programming (GP) based intelligent methodologies for the construction of rule-based systems in two medical domains: the diagnosis of aphasia's subtypes and the classification of pap-smear examinations. Past data representing (a) successful diagnosis of aphasia's subtypes from collaborating medical experts through a free interview per patient, and (b) correctly classified smears (images of cells) by cyto-technologists, previously stained using the Papanicolaou method. Initially a hybrid approach is proposed, which combines standard genetic programming and heuristic hierarchical crisp rule-base construction. Then, genetic programming for the production of crisp rule based systems is attempted. Finally, another hybrid intelligent model is composed by a grammar driven genetic programming system for the generation of fuzzy rule-based systems. Results denote the effectiveness of the proposed systems, while they are also compared for their efficiency, accuracy and comprehensibility, to those of an inductive machine learning approach as well as to those of a standard genetic programming symbolic expression approach. The proposed GP-based intelligent methodologies are able to produce accurate and comprehensible results for medical experts performing competitive to other intelligent approaches. The aim of the authors was the production of accurate but also sensible decision rules that could potentially help medical doctors to extract conclusions, even at the expense of a higher classification score achievement.

  10. A sense inventory for clinical abbreviations and acronyms created using clinical notes and medical dictionary resources

    Science.gov (United States)

    Moon, Sungrim; Pakhomov, Serguei; Liu, Nathan; Ryan, James O; Melton, Genevieve B

    2014-01-01

    Objective To create a sense inventory of abbreviations and acronyms from clinical texts. Methods The most frequently occurring abbreviations and acronyms from 352 267 dictated clinical notes were used to create a clinical sense inventory. Senses of each abbreviation and acronym were manually annotated from 500 random instances and lexically matched with long forms within the Unified Medical Language System (UMLS V.2011AB), Another Database of Abbreviations in Medline (ADAM), and Stedman's Dictionary, Medical Abbreviations, Acronyms & Symbols, 4th edition (Stedman's). Redundant long forms were merged after they were lexically normalized using Lexical Variant Generation (LVG). Results The clinical sense inventory was found to have skewed sense distributions, practice-specific senses, and incorrect uses. Of 440 abbreviations and acronyms analyzed in this study, 949 long forms were identified in clinical notes. This set was mapped to 17 359, 5233, and 4879 long forms in UMLS, ADAM, and Stedman's, respectively. After merging long forms, only 2.3% matched across all medical resources. The UMLS, ADAM, and Stedman's covered 5.7%, 8.4%, and 11% of the merged clinical long forms, respectively. The sense inventory of clinical abbreviations and acronyms and anonymized datasets generated from this study are available for public use at http://www.bmhi.umn.edu/ihi/research/nlpie/resources/index.htm (‘Sense Inventories’, website). Conclusions Clinical sense inventories of abbreviations and acronyms created using clinical notes and medical dictionary resources demonstrate challenges with term coverage and resource integration. Further work is needed to help with standardizing abbreviations and acronyms in clinical care and biomedicine to facilitate automated processes such as text-mining and information extraction. PMID:23813539

  11. A sense inventory for clinical abbreviations and acronyms created using clinical notes and medical dictionary resources.

    Science.gov (United States)

    Moon, Sungrim; Pakhomov, Serguei; Liu, Nathan; Ryan, James O; Melton, Genevieve B

    2014-01-01

    To create a sense inventory of abbreviations and acronyms from clinical texts. The most frequently occurring abbreviations and acronyms from 352,267 dictated clinical notes were used to create a clinical sense inventory. Senses of each abbreviation and acronym were manually annotated from 500 random instances and lexically matched with long forms within the Unified Medical Language System (UMLS V.2011AB), Another Database of Abbreviations in Medline (ADAM), and Stedman's Dictionary, Medical Abbreviations, Acronyms & Symbols, 4th edition (Stedman's). Redundant long forms were merged after they were lexically normalized using Lexical Variant Generation (LVG). The clinical sense inventory was found to have skewed sense distributions, practice-specific senses, and incorrect uses. Of 440 abbreviations and acronyms analyzed in this study, 949 long forms were identified in clinical notes. This set was mapped to 17,359, 5233, and 4879 long forms in UMLS, ADAM, and Stedman's, respectively. After merging long forms, only 2.3% matched across all medical resources. The UMLS, ADAM, and Stedman's covered 5.7%, 8.4%, and 11% of the merged clinical long forms, respectively. The sense inventory of clinical abbreviations and acronyms and anonymized datasets generated from this study are available for public use at http://www.bmhi.umn.edu/ihi/research/nlpie/resources/index.htm ('Sense Inventories', website). Clinical sense inventories of abbreviations and acronyms created using clinical notes and medical dictionary resources demonstrate challenges with term coverage and resource integration. Further work is needed to help with standardizing abbreviations and acronyms in clinical care and biomedicine to facilitate automated processes such as text-mining and information extraction.

  12. Assessment of Clinical Practices for Crushing Medication in Geriatric Units.

    Science.gov (United States)

    Fodil, M; Nghiem, D; Colas, M; Bourry, S; Poisson-Salomon, A-S; Rezigue, H; Trivalle, C

    2017-01-01

    To assess the modification of the form of medication and evaluate staff observance of good clinical practices. One-day assessment of clinical practices. 17 geriatrics units in the 3 Teaching Hospitals of Paris-Sud (APHP), France. Elderly in-patients with difficulties swallowing capsules and tablets. Assessment of target-patient prescriptions and direct observation of nurses' medical rounds. 155/526 in-patients (29.5%) were unable to swallow tablets or capsules: 98 (40.3%) in long-term care, 46 patients (23.8%) in the rehabilitation unit and 11 (12.2%) in the acute care unit (p = .005). In thirty-nine (27.3%) of the 143 prescriptions studied all tablets were safe to crush and all capsules were safe to open. In 104 cases, at least one medication could not be safely modified, including 26 cases (18.2%) in which none of the prescribed drugs were safe to crush or open. In 48.2% of the 110 medications that were crushed, crushing was forbidden, and presented a potential threat in 12.7% of cases or a reduced efficacy in 8.2% of cases. Crushing methods were rarely appropriate: no specific protective equipment was used (81.8%), crushing equipment was shared between patients without cleaning (95.1%), medications were spilled or lost (69.9%). The method of administration was appropriate (water, jellified water) in 25% of the cases, questionable (soup, coffee, compote, juice, cream) in 55% of the cases and unacceptable (laxative) in 21% of the cases. Management of drug prescriptions in patients with swallowing difficulties is not optimal, and may even have iatrogenic effects. In this study, 12.7% of the modifications of the drug form could have been harmful. Doctors, pharmacists and nurses need to reevaluate their practices.

  13. Educational climate perception by preclinical and clinical medical students in five Spanish medical schools.

    Science.gov (United States)

    Palés, Jorge; Gual, Arcadi; Escanero, Jesús; Tomás, Inmaculada; Rodríguez-de Castro, Felipe; Elorduy, Marta; Virumbrales, Montserrat; Rodríguez, Gerardo; Arce, Víctor

    2015-06-08

    The purpose of this study was to investigate student's perceptions of Educational Climate (EC) in Spanish medical schools, comparing various aspects of EC between the 2nd (preclinical) and the 4th (clinical) years to detect strengths and weaknesses in the on-going curricular reform. This study utilized a cross-sectional design and employed the Spanish version of the "Dundee Ready Education Environment Measure" (DREEM). The survey involved 894 2nd year students and 619 4th year students from five Spanish medical schools. The global average score of 2nd year students from the five medical schools was found to be significantly higher (116.2±24.9, 58.2% of maximum score) than that observed in 4th year students (104.8±29.5, 52.4% of maximum score). When the results in each medical school were analysed separately, the scores obtained in the 2nd year were almost always significantly higher than in the 4th year for all medical schools, in both the global scales and the different subscales. The perception of the EC by 2nd and 4th year students from five Spanish medical schools is more positive than negative although it is significantly lower in the 4th year. In both years, although more evident in the 4th year, students point out the existence of several important "problematic educational areas" associated with the persistence of traditional curricula and teaching methodologies. Our findings of this study should lead medical schools to make a serious reflection and drive the implementation of the necessary changes required to improve teaching, especially during the clinical period.

  14. Hybrid Simulation in Teaching Clinical Breast Examination to Medical Students.

    Science.gov (United States)

    Nassif, Joseph; Sleiman, Abdul-Karim; Nassar, Anwar H; Naamani, Sima; Sharara-Chami, Rana

    2017-10-10

    Clinical breast examination (CBE) is traditionally taught to third-year medical students using a lecture and a tabletop breast model. The opportunity to clinically practice CBE depends on patient availability and willingness to be examined by students, especially in culturally sensitive environments. We propose the use of a hybrid simulation model consisting of a standardized patient (SP) wearing a silicone breast simulator jacket and hypothesize that this, compared to traditional teaching methods, would result in improved learning. Consenting third-year medical students (N = 82) at a university-affiliated tertiary care center were cluster-randomized into two groups: hybrid simulation (breast jacket + SP) and control (tabletop breast model). Students received the standard lecture by instructors blinded to the randomization, followed by randomization group-based learning and practice sessions. Two weeks later, participants were assessed in an Objective Structured Clinical Examination (OSCE), which included three stations with SPs blinded to the intervention. The SPs graded the students on CBE completeness, and students completed a self-assessment of their performance and confidence during the examination. CBE completeness scores did not differ between the two groups (p = 0.889). Hybrid simulation improved lesion identification grades (p simulation relieved the fear of missing a lesion on CBE (p = 0.043) and increased satisfaction with the teaching method among students (p = 0.002). As a novel educational tool, hybrid simulation improves the sensitivity of CBE performed by medical students without affecting its specificity. Hybrid simulation may play a role in increasing the confidence of medical students during CBE.

  15. Assessment of clinical reasoning: A Script Concordance test designed for pre-clinical medical students.

    Science.gov (United States)

    Humbert, Aloysius J; Johnson, Mary T; Miech, Edward; Friedberg, Fred; Grackin, Janice A; Seidman, Peggy A

    2011-01-01

    The Script Concordance test (SCT) measures clinical reasoning in the context of uncertainty by comparing the responses of examinees and expert clinicians. It uses the level of agreement with a panel of experts to assign credit for the examinee's answers. This study describes the development and validation of a SCT for pre-clinical medical students. Faculty from two US medical schools developed SCT items in the domains of anatomy, biochemistry, physiology, and histology. Scoring procedures utilized data from a panel of 30 expert physicians. Validation focused on internal reliability and the ability of the SCT to distinguish between different cohorts. The SCT was administered to an aggregate of 411 second-year and 70 fourth-year students from both schools. Internal consistency for the 75 test items was satisfactory (Cronbach's alpha = 0.73). The SCT successfully differentiated second- from fourth-year students and both student groups from the expert panel in a one-way analysis of variance (F(2,508) = 120.4; p students from the two schools were not significantly different (p = 0.20). This SCT successfully differentiated pre-clinical medical students from fourth-year medical students and both cohorts of medical students from expert clinicians across different institutions and geographic areas. The SCT shows promise as an easy-to-administer measure of "problem-solving" performance in competency evaluation even in the beginning years of medical education.

  16. Movement of Genetic Counselors from Clinical to Non-clinical Positions: Identifying Driving Forces.

    Science.gov (United States)

    Cohen, Stephanie A; Tucker, Megan E

    2018-03-05

    A previous study of genetic counselors (GCs) in the state of Indiana identified movement out of clinical positions within the past 2 years. The aims of this study were to determine if this trend is nationwide and identify reasons why GCs are leaving their positions and factors that might help employers attract and retain GCs. An email was sent to members of the American Board of Genetic Counseling with a link to an online confidential survey. There were 939 responses (23.5% response rate). Overall, 52% of GCs report being highly satisfied in their current position, although almost two thirds think about leaving and one third had changed jobs within the past 2 years. Of those who had changed jobs (n = 295), 74.9% had been working in a hospital/clinic setting but only 46.3% currently do, demonstrating a major shift out of the clinic (p < 0.001). The top three reasons cited for leaving a position were work environment/institutional climate, salary/benefits, and a lack of feeling valued/recognized as a professional. These results confirm that GCs are moving out of clinical positions and document elements of job satisfaction. We suggest points for employers to consider when trying to recruit or retain GCs.

  17. [New medical device hospital assessment: what kind of clinical data?].

    Science.gov (United States)

    Beaussier, H; Junot, H; Lancrenon, S; Faure, P

    2012-01-01

    Since 2003, the AP-HP medical devices committee (CODIMS) assess the therapeutic relevance of innovated medical device (MD) for the French AP-HP hospitals' group. To accomplish this task, the CODIMS asks manufacturers to bring out clinical arguments to justify the use of their MD in hospital. This work analyses retrospectively after 8years, all assessed MD until March 2011 and the scientific quality of the clinical data submitted by manufacturers to the CODIMS to purchase their MD. All MD were classed according to their certification's level (I, IIa, IIb, III, DMIA). The quality of available clinical studies (CS) provided by manufacturers for each case was assessed and classed according to five clinical relevance levels based on the evidence-based medecine standards (1-2: high methodology; 3-5: low methodology). One hundred and three MD files (80 % of class IIb and III MD) were analysed by the CODIMS (630CS). Our results highlight the lack of relevance of files that are provided to assess innovated MD: 29 files without any CS; concerning class IIb (32DMS, 221CS) and III (50, 342CS) MD, only 6 % of CS presented a correct clinical relevance level. And the situation did not get better during this assessment period. The CODIMS deplore the poor clinical relevance of files provided to assess MD (wrong comparator, inappropriate ends-points, insufficient follow-up to assess long-term security, small population studied). Future legislative developments for MD assessment are expected to improve this situation. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  18. 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

    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-h 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 clinical...... practice were demonstrated. RESULTS: Knowledge (Cohen's d = 0.73), intrinsic motivation (d = 0.24), and self-efficacy (d = 0.46) significantly increased from the pre- to post-test. Low knowledge students showed the greatest increases in knowledge (d = 3.35) and self-efficacy (d = 0.61), but a non...

  19. Preparing medical students for clinical practice: easing the transition.

    Science.gov (United States)

    Teagle, Alexandra R; George, Maria; Gainsborough, Nicola; Haq, Inam; Okorie, Michael

    2017-08-01

    The transition from medical student to junior doctor is a challenge; the UK General Medical Council has issued guidance emphasizing the importance of adequate preparation of medical students for clinical practice. This study aimed to determine whether a junior doctor-led simulation-based course is an effective way of preparing final year medical students for practice as a junior doctor.We piloted a new 'preparation for practice' course for final year medical students prior to beginning as Foundation Year 1 (first year of practice) doctors. The course ran over three days and consisted of four simulated stations: ward round, prescribing, handover, and lessons learnt. Quantitative and qualitative feedback was obtained.A total of 120 students attended (40 on each day) and feedback was collected from 95 of them. Using a scale of 1 (lowest) to 5 (highest), feedback was positive, with 99% and 96% rating 4 or 5 for the overall quality of the program and the relevance of the program content, respectively. A score of 5 was awarded by 67% of students for the ward round station; 58% for the handover station; 71% for the prescribing station, and 35% for the lessons learnt station. Following the prescribing station, students reported increased confidence in their prescribing.Preparation for practice courses and simulation are an effective and enjoyable way of easing the transition from medical student to junior doctor. Together with 'on-the-job' shadowing time, such programs can be used to improve students' confidence, competence, and ultimately patient safety and quality of care.

  20. Genetic and clinical characteristics of patients with phenylketonuria in Slovenia

    Directory of Open Access Journals (Sweden)

    Urh Grošelj

    2013-12-01

    Full Text Available Phenylketonuria (PKU, an autosomal recessive disease, is the most common inborn error of amino acid metabolism in Caucasians, affecting 1/10,000 individuals. PKU is caused by the deficiency of hepatic phenylalanine hydroxylase (PAH, which catalyzes the hydroxylation of phenylalanine (Phe to tyrosine, using tetrahydrobiopterin (BH4 as a cofactor. The PAH gene is located on the chromosome 12 and consists of 13 exons. Over 600 different mutations of the PAH gene have been identified to date, which result in a broad spectrum of PAH deficiency. The resulting elevation of Phe in the blood (hyperphenilalaninemia – HPA could cause mental retardation if left untreated. The classification of PKU is based on the metabolic phenotype of a patient (according to HPA level; discerned could be three subclasses of PKU (classic, moderate, mild and mild HPA, which is a separate clinical entity.The incidence of classical PKU in the Slovene population was estimated to be 1/10,000, corresponding to a carrier frequency of about 1/50. The cumulative incidence of all subtypes of PKU (classic, moderate, mild is around 1/6,000; the incidence of mild HPA is around 1/3,500. The article also reviews the previously published studies on the genetic and phenotypic characteristics of Slovenian PKU patients, performed at the Department of Pediatric Endocrinology, Diabetes and Metabolism, University Children’s Hospital Ljubljana, in years 2008–2012. The genetic characteristics of the Slovenian PKU population were concordant with other neighbouring populations; five novel mutations of PAH gene were detected in the population.The mandatory neonatal PKU screening in Slovenia was implemented in 1979. The dietary therapy based on a restricted Phe intake should be introduced as soon as possible after birth; in responders, BH4 treatment increases the dietary Phe tolerance.

  1. Genetic counselors: translating genomic science into clinical practice

    OpenAIRE

    Bennett, Robin L.; Hampel, Heather L.; Mandell, Jessica B.; Marks, Joan H.

    2003-01-01

    In a time of emerging genetic tests and technologies, genetic counselors are faced with the challenge of translating complex genomic data into information that will aid their client’s ability to learn about, understand, make, and cope with decisions relating to genetic diagnoses. The first of two companion articles in this issue examines the role of the genetic counselor, particularly in counseling individuals at risk for or diagnosed with breast cancer, in an era of high-tech health care and...

  2. Impact of clinical pharmacy interventions on medication error nodes.

    Science.gov (United States)

    Chamoun, Nibal R; Zeenny, Rony; Mansour, Hanine

    2016-12-01

    Background Pharmacists' involvement in patient care has improved the quality of care and reduced medication errors. However, this has required a lot of work that could not have been accomplished without documentation of interventions. Several means of documenting errors have been proposed in the literature but without a consistent comprehensive process. Recently, the American College of Clinical Pharmacy (ACCP) recognized that pharmacy practice lacks a consistent process for direct patient care and discussed several options for a pharmaceutical care plan, essentially encompassing medication therapy assessment, development and implementation of a pharmaceutical care plan and finally evaluation of the outcome. Therefore, as per the recommendations of ACCP, we sought to retrospectively analyze interventions by grouping them according to medication related problems (MRP) and their nodes such as prescribing; administering; monitoring; documenting and dispensing. Objective The aim of this study is to report interventions according to medication error (ME) nodes and show the impact of pharmacy interventions in reducing MRPs. Setting The study was conducted at the cardiology and infectious diseases services at a teaching hospital located in Beirut, Lebanon. Methods Intervention documentation was completed by pharmacy students on infectious diseases and cardiology rotations then reviewed by clinical pharmacists with respective specialties. Before data analysis, a new pharmacy reporting sheet was developed in order to link interventions according to MRP. Then, MRPs were grouped in the five ME nodes. During the documentation process, whether MRP had reached the patient or not may have not been reported which prevented the classification to the corresponding medication error nodes as ME. Main outcome Reduction in medication related problems across all ME nodes. Results A total of n = 1174 interventions were documented. N = 1091 interventions were classified as MRPs

  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. The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.

    Science.gov (United States)

    Boycott, Kym; Hartley, Taila; Adam, Shelin; Bernier, Francois; Chong, Karen; Fernandez, Bridget A; Friedman, Jan M; Geraghty, Michael T; Hume, Stacey; Knoppers, Bartha M; Laberge, Anne-Marie; Majewski, Jacek; Mendoza-Londono, Roberto; Meyn, M Stephen; Michaud, Jacques L; Nelson, Tanya N; Richer, Julie; Sadikovic, Bekim; Skidmore, David L; Stockley, Tracy; Taylor, Sherry; van Karnebeek, Clara; Zawati, Ma'n H; Lauzon, Julie; Armour, Christine M

    2015-07-01

    The aim of this Position Statement is to provide recommendations for Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other physicians regarding the use of genome-wide sequencing of germline DNA in the context of clinical genetic diagnosis. This statement has been developed to facilitate the clinical translation and development of best practices for clinical genome-wide sequencing for genetic diagnosis of monogenic diseases in Canada; it does not address the clinical application of this technology in other fields such as molecular investigation of cancer or for population screening of healthy individuals. Two multidisciplinary groups consisting of medical geneticists, clinical laboratory geneticists, genetic counsellors, ethicists, lawyers and genetic researchers were assembled to review existing literature and guidelines on genome-wide sequencing for clinical genetic diagnosis in the context of monogenic diseases, and to make recommendations relevant to the Canadian context. The statement was circulated for comment to the Canadian College of Medical Geneticists (CCMG) membership-at-large and, following incorporation of feedback, approved by the CCMG Board of Directors. The CCMG is a Canadian organisation responsible for certifying medical geneticists and clinical laboratory geneticists, and for establishing professional and ethical standards for clinical genetics services in Canada. Recommendations include (1) clinical genome-wide sequencing is an appropriate approach in the diagnostic assessment of a patient for whom there is suspicion of a significant monogenic disease that is associated with a high degree of genetic heterogeneity, or where specific genetic tests have failed to provide a diagnosis; (2) until the benefits of reporting incidental findings are established, we do not endorse the intentional clinical analysis of disease-associated genes other than those linked to the primary indication; and (3) clinicians should

  5. The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

    Science.gov (United States)

    Boycott, Kym; Hartley, Taila; Adam, Shelin; Bernier, Francois; Chong, Karen; Fernandez, Bridget A; Friedman, Jan M; Geraghty, Michael T; Hume, Stacey; Knoppers, Bartha M; Laberge, Anne-Marie; Majewski, Jacek; Mendoza-Londono, Roberto; Meyn, M Stephen; Michaud, Jacques L; Nelson, Tanya N; Richer, Julie; Sadikovic, Bekim; Skidmore, David L; Stockley, Tracy; Taylor, Sherry; van Karnebeek, Clara; Zawati, Ma'n H; Lauzon, Julie; Armour, Christine M

    2015-01-01

    Purpose and scope The aim of this Position Statement is to provide recommendations for Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other physicians regarding the use of genome-wide sequencing of germline DNA in the context of clinical genetic diagnosis. This statement has been developed to facilitate the clinical translation and development of best practices for clinical genome-wide sequencing for genetic diagnosis of monogenic diseases in Canada; it does not address the clinical application of this technology in other fields such as molecular investigation of cancer or for population screening of healthy individuals. Methods of statement development Two multidisciplinary groups consisting of medical geneticists, clinical laboratory geneticists, genetic counsellors, ethicists, lawyers and genetic researchers were assembled to review existing literature and guidelines on genome-wide sequencing for clinical genetic diagnosis in the context of monogenic diseases, and to make recommendations relevant to the Canadian context. The statement was circulated for comment to the Canadian College of Medical Geneticists (CCMG) membership-at-large and, following incorporation of feedback, approved by the CCMG Board of Directors. The CCMG is a Canadian organisation responsible for certifying medical geneticists and clinical laboratory geneticists, and for establishing professional and ethical standards for clinical genetics services in Canada. Results and conclusions Recommendations include (1) clinical genome-wide sequencing is an appropriate approach in the diagnostic assessment of a patient for whom there is suspicion of a significant monogenic disease that is associated with a high degree of genetic heterogeneity, or where specific genetic tests have failed to provide a diagnosis; (2) until the benefits of reporting incidental findings are established, we do not endorse the intentional clinical analysis of disease-associated genes

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

    Science.gov (United States)

    Katsanis, Sara Huston; Minear, Mollie A.; Vorderstrasse, Allison; Yang, Nancy; Reeves, Jason W.; Rakhra-Burris, Tejinder; Cook-Deegan, Robert; Ginsburg, Geoffrey S.; Simmons, Leigh Ann

    2015-01-01

    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. PMID:25854543

  7. 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.

  8. Clinical education stressors in medical trainees in Shahid Sadoughi University of Medical Sciences, Yazd

    Directory of Open Access Journals (Sweden)

    MAHDIEH MOMAYYEZI

    2016-01-01

    Full Text Available Introduction: Stress is an important factor in the educational process. Teaching and learning are stressful processes. This stress can affect one’s ability and change his/her performance. The purpose of this study was to investigate stressors of clinical education from the perspective of medical students in Yazd University of Medical Sciences. Methods: This descriptive-analytic study was conducted in Yazd University of Medical Science during year 2014-2015. The sample size was 170 medical students who were selected randomly. The data were collected by a questionnaire including four components: interpersonal relationship, educational environment, clinical experience and the unpleasant emotions. A significance level of 0.05 was considered for analysis. The statistical analyses included descriptive statistics, ANOVA and T-tests, using SPSS software, version 14. Results: The results showed that the highest domain score belonged to interpersonal relationship (3.33±0.3 followed by unpleasant emotions domain (3.3±0.3. The lowest domain score of clinical education stressors was educational environment (3.12±0.1. The results showed that the mean score of interpersonal relationship domain was more in women than in men (p<0.05. Conclusion: The relationship between teachers and students is an effective factor in all dimensions of clinical education stressors. So proper measures such as the promotion of scientific awareness of teachers and educational staff about factors that lead to stress and the best way to communicate with students should be taken to reduce the students’ stress.

  9. Bridging between basic medical science and clinical practice

    Directory of Open Access Journals (Sweden)

    Bakir Mehić

    2012-02-01

    Full Text Available Translating the extraordinary scientific and technological advances from the biomedical research laboratory into actual patient care practices and other processes aimed at promoting health has been a major challenge, particularly for patients in community settings. Because of that the increased participation of clinicians from primary health care in clinical research would have a number of benefits. As experts in the delivery of clinical care in one society, they have much to contribute providing health care for patients in the whole spectrum of illnesses1. They are among the first to recognize changes in patients’ which come us as result of disease and conditions associated with demographic shiftings. Very often these are unexpected events such as trauma, natural disasters, pandemic infections, etc. They are also directly in contact with the policy-related matters (e.g., health consequences associated with increase in price of medications or the clinical consequences of war, such as the rapid increase in the number of individuals with prosthetic limbs and post traumatic stress syndrome2. Finally, participation in clinical research would benefit clinicians from primary health care in more ways, such as: contributing the mission of medicine and improving the scientific basis for medical practice; allowing clinicians to stay with new innovations ie. the development up to-date of information systems to improve data-gathering associated with the research3.A major goal is the development of teams of investigators from various research disciplines, is to turm the scientific discoveries from the laboratories into treatments and strategies for patients in communities. However, even with that introduction only a small part of the community will provide participation in clinical research. The barriers for this in USA recognised from clinicians community and showed in down table4.

  10. The Process of Clinical Reasoning among Medical Students

    Directory of Open Access Journals (Sweden)

    Djon Machado Lopes

    Full Text Available ABSTRACT Introduction: Research in the field of medical reasoning has shed light on the reasoning process used by medical students. The strategies in this process are related to the analytical [hypothetical-deductive (HD] and nonanalytic [scheme-inductive (SI] systems, and pattern recognition (PR]. Objective: To explore the clinical reasoning process of students from the fifth year of medical school at the end of the clinical cycle of medical internship, and to identify the strategies used in preparing diagnostic hypotheses, knowledge organization and content. Method: Qualitative research conducted in 2014 at a Brazilian public university with medical interns. Following Stamm's method, a case in internal medicine (IM was built based on the theory of prototypes (Group 1 = 47 interns, in which the interns listed, according to their own perceptions, the signs, symptoms, syndromes, and diseases typical of internal medicine. This case was used for evaluating the clinical reasoning process of Group 2 (30 students = simple random sample obtained with the "think aloud" process. The verbalizations were transcribed and evaluated by Bardin's thematic analysis. The content analysis were approved by two experts at the beginning and at the end of the analysis process. Results: The interns developed 164 primary and secondary hypotheses when solving the case. The SI strategy prevailed with 48.8%, followed by PR (35.4%, HD (12.2%, and mixed (1.8 % each: SI + HD and HD + PR. The students built 146 distinct semantic axes, resulting in an average of 4.8/ participant. During the analysis, 438 interpretation processes were executed (average of 14.6/participant, and 124 combination processes (average of 4.1/participant. Conclusions: The nonanalytic strategies prevailed with the PR being the most used in the development of primary hypotheses (46.8% and the SI in secondary hypotheses (93%. The interns showed a strong semantic network and did three and a half times more

  11. 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...

  12. Egyptian Journal of Medical Human Genetics - Vol 12, No 2 (2011)

    African Journals Online (AJOL)

    Egyptian Journal of Medical Human Genetics - Vol 12, No 2 (2011) ... Serum interferon-alpha level in first degree relatives of systemic lupus erythematosus patients: Correlation with autoantibodies titers · EMAIL FREE FULL TEXT EMAIL FREE FULL ... LB Salah, CB Salem, F B'Chir, K Bouraoui, F Broly, S Saguem, 183-186.

  13. [Why medical consultation is needed in the clinical laboratory].

    Science.gov (United States)

    Kawai, T

    1998-10-01

    During the 20th century, at least until the 1980s, clinical laboratory practice had been rapidly expanded, mainly because of a significant advancement in medicine as a whole and also in laboratory technology. However, recent economic changes in health care environment worldwide have been influencing greatly future trends in clinical laboratory practice. Four major macroeconomic forces drive change in clinical laboratory practice as follows; (1) Increasing cost of health care, (2) Implications of an aging population, (3) Social change in the patient population, and (4) Explosion of new technologies. Obviously, the increasing cost of health care is the primary driver. Considering a rapid change in the health care environment, clearly there are two separate pathways to be considered with regard to future modes of delivering patient care services through the clinical laboratory: commercial independent laboratories and hospital laboratories. In most hospital laboratories, in addition to high-quality, accurate and precise laboratory data being delivered through automated informatics in a timely fashion, laboratory physicians and other laboratorians should be available 24 hours a day and 7 days a week. The primary purpose of this approach is to develop a system in which the physician can order the most efficient number of tests, which will provide the maximum amount of clinically relevant informations most rapidly and most accurately at the least cost to the patient. Laboratory physicians must play a key role particularly in hospital laboratories. Their most important roles include those of a professional supplier of laboratory results being useful for health care and clinically relevant, and that of a consultative role for primary care physicians and other co-medical staffs to make important medical decision, based on laboratory results obtained. Therefore, the Japan Society of Clinical Pathology started in 1990 in publishing a series of proposed guidelines for adequate

  14. Ethical and clinical practice considerations for genetic counselors related to direct-to-consumer marketing of genetic tests.

    Science.gov (United States)

    Wade, Christopher H; Wilfond, Benjamin S

    2006-11-15

    Several companies utilize direct-to-consumer (DTC) advertising for genetic tests and some, but not all, bypass clinician involvement by offering DTC purchase of the tests. This article examines how DTC marketing strategies may affect genetic counselors, using available cardiovascular disease susceptibility tests as an illustration. The interpretation of these tests is complex and includes consideration of clinical validity and utility, and the further complications of gene-environment interactions and pleiotropy. Although it is unclear to what extent genetic counselors will encounter clients who have been exposed to DTC marketing strategies, these strategies may influence genetic counseling interactions if they produce directed interest in specific tests and unrealistic expectations for the tests' capacity to predict disease. Often, a client's concern about risk for cardiovascular diseases is best addressed by established clinical tests and a family history assessment. Ethical dilemmas may arise for genetic counselors who consider whether to accept clients who request test interpretation or to order DTC-advertised tests that require a clinician's authorization. Genetic counselors' obligations to care for clients extend to interpreting DTC tests, although this obligation may be fulfilled by referral or consultation with specialists. Genetic counselors do not have an obligation to order DTC-advertised tests that have minimal clinical validity and utility at a client's request. This can be a justified restriction on autonomy based on consideration of risks to the client, the costs, and the implications for society. Published 2006 Wiley-Liss, Inc.

  15. Perceptions of Ghanaian medical students completing a clinical elective at the University of Michigan Medical School.

    Science.gov (United States)

    Abedini, Nauzley C; Danso-Bamfo, Sandra; Moyer, Cheryl A; Danso, Kwabena A; Mäkiharju, Heather; Donkor, Peter; Johnson, Timothy R B; Kolars, Joseph C

    2014-07-01

    International medical electives typically represent a unidirectional flow of students from economically advantaged countries in the global "North" to resource-poor nations in the global "South." Little is known about the impact of bilateral exchanges on students from less affluent nations. Since 2007, students from the University of Michigan Medical School (UMMS) and medical schools in Ghana have engaged in a bilateral clinical exchange program. A 45-item online survey was distributed to all 73 Ghanaian medical students who had rotated at UMMS from 2008 to 2010 to assess perspectives on the value and impact of their participation. Incoming Ghanaian students outnumbered outgoing UMMS students 73 to 33 during the study period. Of eligible Ghanaian students, 70% (51/73) participated in the survey, with 40 of 51 providing valid data on at least 50% of questions. Ninety-seven percent (37/38) reported that the UMMS rotation was valuable to their medical training, 90% (35/39) reported changes in how they approach patient care, and 77% (24/31) reported feeling better equipped to serve patients in their home community. Eighty-five percent of students (28/33) felt more inclined to pursue training opportunities outside of their home country after their rotation at UMMS. More studies are needed to determine the feasibility of bidirectional exchanges as well as the short-term and long-term impact of rotations on students from underresourced settings and their hosts in more resource-rich environments.

  16. Classifying medical relations in clinical text via convolutional neural networks.

    Science.gov (United States)

    He, Bin; Guan, Yi; Dai, Rui

    2018-05-16

    Deep learning research on relation classification has achieved solid performance in the general domain. This study proposes a convolutional neural network (CNN) architecture with a multi-pooling operation for medical relation classification on clinical records and explores a loss function with a category-level constraint matrix. Experiments using the 2010 i2b2/VA relation corpus demonstrate these models, which do not depend on any external features, outperform previous single-model methods and our best model is competitive with the existing ensemble-based method. Copyright © 2018. Published by Elsevier B.V.

  17. Connecting Gaucher and Parkinson Disease: Considerations for Clinical and Research Genetic Counseling Settings.

    Science.gov (United States)

    Cook, Lola; Schulze, Jeanine

    2017-12-01

    There are multiple autosomal recessive disorders in which carriers may be at risk for other diseases. This observation calls into question the previous understanding that carriers of autosomal recessive disorders escape clinical consequences. We also know that childhood genetic conditions may have adult disease counterparts (Zimran et al., The Israel Medical Association Journal: IMAJ, 16(11), 723-724, 2014). Individuals who have Gaucher disease and carriers of the disorder are at increased risk for a seemingly unrelated and complex neurological condition, Parkinson disease. Parkinson disease is, in part, caused by the same mutations in the GBA gene that lead to Gaucher disease, and the two conditions are thought to have shared pathophysiology. Briefly reviewed are how these two diseases historically became linked, where their paths cross, potential problems and considerations in disclosure of the link, and current guidelines and research in this area. Genetic counseling experience with a large Parkinson disease cohort is used as a starting point to question the state of clinical and nonclinical practice in disclosing this unusual connection We conclude that more research and discussion are needed to inform practice regarding the crossroads of Gaucher and Parkinson disease.

  18. Nasal Carriage of Staphylococcus aureus in Australian (pre-clinical and clinical) Medical Students

    NARCIS (Netherlands)

    E. Stubbs; M. Pegler; A. Vickery; C. Harbour

    1994-01-01

    textabstractThe nasal carriage of Staphylococcus aureus in 808 Australian medical students was studied. Five groups of students experienced varying degrees of clinical exposure in a hospital environment ranging from 0 to 42 months. The overall percentage of carriers among the five groups did not

  19. Erosion of Digital Professionalism During Medical Students' Core Clinical Clerkships.

    Science.gov (United States)

    Mostaghimi, Arash; Olszewski, Aleksandra E; Bell, Sigall K; Roberts, David H; Crotty, Bradley H

    2017-05-03

    The increased use of social media, cloud computing, and mobile devices has led to the emergence of guidelines and novel teaching efforts to guide students toward the appropriate use of technology. Despite this, violations of professional conduct are common. We sought to explore professional behaviors specific to appropriate use of technology by looking at changes in third-year medical students' attitudes and behaviors at the beginning and conclusion of their clinical clerkships. After formal teaching about digital professionalism, we administered a survey to medical students that described 35 technology-related behaviors and queried students about professionalism of the behavior (on a 5-point Likert scale), observation of others engaging in the behavior (yes or no), as well as personal participation in the behavior (yes or no). Students were resurveyed at the end of the academic year. Over the year, perceptions of what is considered acceptable behavior regarding privacy, data security, communications, and social media boundaries changed, despite formal teaching sessions to reinforce professional behavior. Furthermore, medical students who observed unprofessional behaviors were more likely to participate in such behaviors. Although technology is a useful tool to enhance teaching and learning, our results reflect an erosion of professionalism related to information security that occurred despite medical school and hospital-based teaching sessions to promote digital professionalism. True alteration of trainee behavior will require a cultural shift that includes continual education, better role models, and frequent reminders for faculty, house staff, students, and staff. ©Arash Mostaghimi, Aleksandra E Olszewski, Sigall K Bell, David H Roberts, Bradley H Crotty. Originally published in JMIR Medical Education (http://mededu.jmir.org), 03.05.2017.

  20. A biography and bibliography: the recent trends in bioethics and medical genetics in Japan (Part I).

    Science.gov (United States)

    Fujiki, N

    2000-01-01

    1. Introduction. 2. History of Bioethics in Japan. 3. First international bioethics seminar in Fukui on human dignity and medicine (1987). 4. Second international bioethics seminar in Fukui--international association of human biologists--japan society of human genetics joint symposium on medical genetics and society (1990). 5. Third international bioethics seminar in Fukui on human genome research and society (1992). 6. Fourth international bioethics seminar in Fukui on intractable neurological disorders, human genome research and society (1993). 7. Fifth international bioethics seminar in Fukui on the MURS japan/IBC UNESCO joint seminar on the protection of the human genome and scientific responsibility (1995). 8. Sixth international bioethics seminar in Fukui--UNESCO Asian bioethics conference- and who assisted satellite symposium on medical genetics services and bioethics, in Kobe and Fukui (1997). 9. Coming seventh international bioethics seminar in Fukui on pharmaco-genomics and DNA polymorphism (2000). 10. Conclusion.

  1. Hereditary multiple exostoses: from genetics to clinical syndrome and complications

    Energy Technology Data Exchange (ETDEWEB)

    Vanhoenacker, Filip M.; Hul, Wim van; Wuyts, Wim; Willems, P.J.; Schepper, Arthur M. de

    2001-12-01

    Objective: To give an overview of genetic, clinical and radiological aspects in two families over four generations with known hereditary multiple exostoses (HME). Methods and material: After linkage analysis in both families to localize the defective gene, mutation analysis was performed in these genes to identify the underlying mutation. In the 31 affected individuals, location, number and morphology and evolution of exostosis, evolution of remodeling defects at the metaphysis, and the extent of possible complications were evaluated on clinical and imaging (plain radiography, computed tomography (CT), and magnetic resonance imaging (MRI)) data over a lifetime period. Results and conclusions: Both families demonstrate the gene defect in the same EXT-2 gene locus on chromosome 11p. Exostoses are preferentially located in the lower extremity (hip, knee and lower leg), humerus, and forearm. Any other bone may be involved, except for the calvaria of the skull and the mandible. Exostoses are rather sessile than pedunculated. Exostosis is rarely present at birth but develops gradually and may persist to grow slowly after closure of the growth plates. Preferential expression of the remodeling defect was seen in the hip, distal femur (trumpet-shaped metaphysis) and forearm (shortening of the ulna with secondary bowing of the radius and development of a pseudo-Madelung deformity). These radiological manifestations start at the age of 4-5 years and become more obvious as the enchondral bone formation progresses with age. Reported complications in these families consist of local entrapment phenomenons (vessel, tendon, nerve), frictional bursitis, and sarcomatous transformation. MRI was able to suggest these complications and is the imaging technique of choice in the evaluation of symptomatic exostoses.

  2. Hereditary multiple exostoses: from genetics to clinical syndrome and complications

    International Nuclear Information System (INIS)

    Vanhoenacker, Filip M.; Hul, Wim van; Wuyts, Wim; Willems, P.J.; Schepper, Arthur M. de

    2001-01-01

    Objective: To give an overview of genetic, clinical and radiological aspects in two families over four generations with known hereditary multiple exostoses (HME). Methods and material: After linkage analysis in both families to localize the defective gene, mutation analysis was performed in these genes to identify the underlying mutation. In the 31 affected individuals, location, number and morphology and evolution of exostosis, evolution of remodeling defects at the metaphysis, and the extent of possible complications were evaluated on clinical and imaging (plain radiography, computed tomography (CT), and magnetic resonance imaging (MRI)) data over a lifetime period. Results and conclusions: Both families demonstrate the gene defect in the same EXT-2 gene locus on chromosome 11p. Exostoses are preferentially located in the lower extremity (hip, knee and lower leg), humerus, and forearm. Any other bone may be involved, except for the calvaria of the skull and the mandible. Exostoses are rather sessile than pedunculated. Exostosis is rarely present at birth but develops gradually and may persist to grow slowly after closure of the growth plates. Preferential expression of the remodeling defect was seen in the hip, distal femur (trumpet-shaped metaphysis) and forearm (shortening of the ulna with secondary bowing of the radius and development of a pseudo-Madelung deformity). These radiological manifestations start at the age of 4-5 years and become more obvious as the enchondral bone formation progresses with age. Reported complications in these families consist of local entrapment phenomenons (vessel, tendon, nerve), frictional bursitis, and sarcomatous transformation. MRI was able to suggest these complications and is the imaging technique of choice in the evaluation of symptomatic exostoses

  3. Medical specialty considerations by medical students early in their clinical experience

    Directory of Open Access Journals (Sweden)

    Weissman Charles

    2012-03-01

    Full Text Available Abstract Background Specialty selection by medical students determines the future composition of the physician workforce. Selection of career specialties begins in earnest during the clinical rotations with exposure to the clinical and intellectual environments of various specialties. Career specialty selection is followed by choosing a residency program. This is the period where insight into the decision process might help healthcare leaders ascertain whether, when, and how to intervene and attempt to influence students' decisions. The criteria students consider important in selecting a specialty and a residency program during the early phases of their clinical rotations were examined. Methods Questionnaires distributed to fifth-year medical students at two Israeli medical schools. Results 229 of 275 (83% questionnaires were returned. 80% of the students had considered specialties; 62% considered one specialty, 25% two, the remainder 3-5 specialties. Students took a long-range view; 55% considered working conditions after residency more important than those during residency, another 42% considered both equally important. More than two-thirds wanted an interesting and challenging bedside specialty affording control over lifestyle and providing a reasonable relationship between salary and lifestyle. Men were more interested in well-remunerated procedure-oriented specialties that allowed for private practice. Most students rated as important selecting a challenging and interesting residency program characterized by good relationships between staff members, with positive treatment by the institution, and that provided much teaching. More women wanted short residencies with few on-calls and limited hours. More men rated as important residencies affording much responsibility for making clinical decisions and providing research opportunities. More than 50% of the students considered it important that their residency be in a leading department, and in

  4. Silent angels the genetic and clinical aspects of Rett syndrome

    Directory of Open Access Journals (Sweden)

    Dziwota Ewelina

    2016-12-01

    Full Text Available Rett syndrome is a neurodevelopmental genetic disorder and, because of some behavioral characteristics, individuals affected by the disease are known as silent angels. Girls with Rett syndrome perform stereotyped movements, they have learning difficulties, their reaction time is prolonged, and they seem alienated in the environment. These children require constant pediatric, neurological and orthopedic care. In the treatment of Rett syndrome physical therapy, music therapy, hydrotherapy, hippotherapy, behavioral methods, speech therapy and diet, are also used. In turn, psychological therapy of the syndrome is based on the sensory integration method, using two or more senses simultaneously. In 80% of cases, the syndrome is related to mutations of the MECP2 gene, located on chromosome X. The pathogenesis of Rett syndrome is caused by the occurrence of a non-functional MeCP2 protein, which is a transcription factor of many genes, i.e. Bdnf, mef2c, Sgk1, Uqcrc1. Abnormal expression of these genes reveals a characteristic disease phenotype. Clinical symptoms relate mainly to the nervous, respiratory, skeletal and gastrointestinal systems. Currently causal treatment is not possible. However, researchers are developing methods by which, perhaps in the near future, it will be possible to eliminate the mutations in the MECP2 gene, and this will give a chance to the patient for normal functioning.

  5. Clinical and genetic features of ataxia-telangiectasia

    International Nuclear Information System (INIS)

    Bundey, S.

    1994-01-01

    There are several variants of ataxia-telangiectasia (A-T): classical A-T with marked radiation sensitivity; classical A-T with intermediate levels of radiation sensitivity; mild A-T with intermediate levels of radiation sensitivity; A-T without telangiectasia; A-T without oculomoto apraxia; and A-T with microcephaly. These disorders are probably caused by different allelic mutations, because affected sibs resemble the index patients, and because there is an association of certain haplo-types of 11q22-23 with specific phenotypes. The Nijmegen Breakage Syndrome, with its lack of ataxia, seems on clinical grounds to be a different disorder. Although A-T is almost always inherited as an autosomal recessive, there are some unusual features; an unexpectedly low parental consanguinity rate, an incidence in sibs that is < 0.25, and occurrence of disease in many different races and in the offspring of mixed race unions. Moreover, looking at haplotypes from 63 UK patients, there is a remarkably low incidence of homozygosity. An autosomal recessive condition that is deficient in parental consanguinity, and in homozygosity for the region around the gene, can be explained by J.H. Edwards' hypothesis that homozygosity for alleles at a neighbouring locus are lethal early in embryogenesis. Other possible mechanisms to explain the unusual genetic features are discussed. (author)

  6. Familial canine dermatomyositis: clinical, electrodiagnostic, and genetic studies

    International Nuclear Information System (INIS)

    Haupt, K.H.; Prieur, D.J.; Moore, M.P.; Hargis, A.M.; Hegreberg, G.A.; Gavin, P.R.; Johnson, R.S.

    1985-01-01

    Three Collies with a skin disorder, 6 progeny from a breeding of 2 of the Collies (incross litter), and the 4 progeny from the breeding of an affected Collie male and a normal Labrador Retriever female (outcross litter) were examined. By 7 to 11 weeks of age, all 6 dogs in the incross litter developed a qualitatively similar, but variably severe, dermatitis of the ears, face, lips, tip of the tail, and over bony prominences of limbs. Later, myopathic signs characterized by bilaterally symmetrical skeletal muscle atrophy of the head, neck, trunk, and extremities; facial palsy; decreased jaw tone; stiff gait; and hyperreflexia were observed in the dogs more severely affected by the dermatitis. Of the 4 dogs in the outcross litter, 3 had similar, but milder, clinical manifestations of the dermatitis and myopathy. Cutaneous lesions consisted of intraepidermal and subepidermal vesicles or pustules with intradermal infiltration by leukocytes. Muscle lesions included myositis; myofiber degeneration, regeneration, and atrophy; and fibrosis. A generalized myopathy in the severely affected dogs was indicated by abnormal readings on needle electromyograms and normal motor nerve conduction velocities. Spontaneous needle electromyogram abnormalities were fibrillation potentials, positive sharp waves, and bizarre high-frequency discharges. Retrospective and prospective genetic analyses disclosed a definite familial tendency and indicated the condition has an autosomal dominant component

  7. Evaluation of RxNorm for Medication Clinical Decision Support.

    Science.gov (United States)

    Freimuth, Robert R; Wix, Kelly; Zhu, Qian; Siska, Mark; Chute, Christopher G

    2014-01-01

    We evaluated the potential use of RxNorm to provide standardized representations of generic drug name and route of administration to facilitate management of drug lists for clinical decision support (CDS) rules. We found a clear representation of generic drug name but not route of administration. We identified several issues related to data quality, including erroneous or missing defined relationships, and the use of different concept hierarchies to represent the same drug. More importantly, we found extensive semantic precoordination of orthogonal concepts related to route and dose form, which would complicate the use of RxNorm for drug-based CDS. This study demonstrated that while RxNorm is a valuable resource for the standardization of medications used in clinical practice, additional work is required to enhance the terminology so that it can support expanded use cases, such as managing drug lists for CDS.

  8. Mental strain among staff at medical rehabilitation clinics in Germany.

    Science.gov (United States)

    Koerner, Mirjam

    2011-01-20

    The aim of the study is to compare the frequency of mental strain effects on employees in somatic and psychosomatic rehabilitation clinics as well as between the different occupational groups. Associations between mental strain effects and working conditions, cooperation in the team and employee satisfaction are also investigated. The present study is cross-sectional with a descriptive-explorative design. It is composed of a survey with standardized questionnaires (Human Service Workload, Questionnaire on Teamwork and Questionnaire on Staff Satisfaction in Medical Rehabilitation) and global items, and was conducted among all employees of twelve rehabilitation teams (five somatic and seven psychosomatic rehabilitation clinics (n=549)). The response rate of the survey averaged 45% (n=252). One in four participants reported being emotionally exhausted. There were significantly more emotionally exhausted employees working in the psychosomatic (31%) than in the somatic rehabilitation clinics (16%) (X(2)=7.403, df=1, pemployee satisfaction (r=-.38 to r=-.50, pintrinsic motivation, dissatisfaction). The results clearly show that the employees in medical rehabilitation clinics have a high stress level at work, a situation which is also known in other health care organizations. Observations of strong associations between cooperation in the team and strain effects confirm the positive impact of social support in the daily work routine. Correlation between the subjective appraisal of working conditions and the impact of strain is mostly high. It can be assumed that the strain effects can be influenced positively with supportive team and human resource development (person-related interventions) and interventions that enhance working conditions (condition-related interventions).

  9. Historical study: Cornelia C. de Lange (1871-1950)--a pioneer in clinical genetics

    NARCIS (Netherlands)

    de Knecht-van Eekelen, A.; Hennekam, R. C.

    1994-01-01

    The life and work in the field of clinical genetics of one of the most outstanding Dutch pediatricians of the first half of the twentieth century, Cornelia C. de Lange (1871-1950), is described against the background of the development of pediatrics, anthropogenetics, and clinical genetics in the

  10. Development of a Laboratory Information Management System for Medical Genetic Investigations (LIMS)

    OpenAIRE

    Albers, K.

    2006-01-01

    Studying the genetic factor underlying a set of diseases with modern high- throughput techniques generates huge amounts of data, posing a challenge for data management. In this thesis a database management system called FIDB based on MySQL was developed to handle clinical and experimental genetic data. For the convenience of the users, a web interface was developed to insert, update, delete and display the data. In addition security aspects were taken care of. Currently FIDB is able to organi...

  11. When gene medication is also genetic modification--regulating DNA treatment.

    Science.gov (United States)

    Foss, Grethe S; Rogne, Sissel

    2007-07-26

    The molecular methods used in DNA vaccination and gene therapy resemble in many ways the methods applied in genetic modification of organisms. In some regulatory regimes, this creates an overlap between 'gene medication' and genetic modification. In Norway, an animal injected with plasmid DNA, in the form of DNA vaccine or gene therapy, currently is viewed as being genetically modified for as long as the added DNA is present in the animal. However, regulating a DNA-vaccinated animal as genetically modified creates both regulatory and practical challenges. It is also counter-intuitive to many biologists. Since immune responses can be elicited also to alter traits, the borderline between vaccination and the modification of properties is no longer distinct. In this paper, we discuss the background for the Norwegian interpretation and ways in which the regulatory challenge can be handled.

  12. The current social, political, and medical role of genetic testing in familial breast and ovarian carcinomas.

    Science.gov (United States)

    Weitzel, J N

    1999-02-01

    Few advances in medical science have yielded as much publicity and controversy as discoveries in genetics. Moving quickly from the bench to the bedside, genetic testing for inherited susceptibility to breast and ovarian cancer has had a significant impact on our paradigms for decisions about the treatment and prevention of disease. Assessment of cancer risk is developing into a distinct discipline, with rapidly evolving genetic technologies and models for estimating an individual's risk of cancer. Exciting developments in chemoprevention of breast cancer demonstrate the potential to offer a broader range of options for decreasing cancer risk. This article will consider recent advances in the understanding of cancer genetics, and describe the state-of-the-art in terms of management of individuals with inherited susceptibility to breast and ovarian cancer.

  13. Attitudes of Portuguese medical residents' towards clinical communication skills.

    Science.gov (United States)

    Loureiro, Elizabete; Severo, Milton; Ferreira, Maria Amélia

    2015-08-01

    To explore the attitudes and perceptions of Portuguese residents towards Clinical Communication Skills (CCS) and the need for complementary training. 78 medical residents responded to an on-line questionnaire which comprised demographic data, open-ended questions and a Portuguese version of the Communication Skills Attitude Scale (CSAS). Residents gave significantly higher scores (Pcommunication skills in general, compared to CSAS2 (attitudes towards the teaching/learning process of CCS). Residents doing their residency training in other parts of the country, other than the north, reveal a higher perception of insufficient training (72.7% vs. 38.7%, P=0.036). Residents showed more positive attitudes towards communication skills than towards the teaching/learning process. They admit to need more training in CCS in their residency year and highlight that the clinical cycle of undergraduate education should integrate these topics. Content analysis indicates that residents' perceptions are context-influenced. Integration of CCS in the undergraduate education, enhanced during post-graduate training. Training of clinical faculty and supervisors/tutors and the role that stakeholders have to play in order to promote continuous training in CCS; encourage patient-centeredness and reflective practice, as to facilitate transfer of acquired skills to clinical practice. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  14. The Texas medication algorithm project: clinical results for schizophrenia.

    Science.gov (United States)

    Miller, Alexander L; Crismon, M Lynn; Rush, A John; Chiles, John; Kashner, T Michael; Toprac, Marcia; Carmody, Thomas; Biggs, Melanie; Shores-Wilson, Kathy; Chiles, Judith; Witte, Brad; Bow-Thomas, Christine; Velligan, Dawn I; Trivedi, Madhukar; Suppes, Trisha; Shon, Steven

    2004-01-01

    In the Texas Medication Algorithm Project (TMAP), patients were given algorithm-guided treatment (ALGO) or treatment as usual (TAU). The ALGO intervention included a clinical coordinator to assist the physicians and administer a patient and family education program. The primary comparison in the schizophrenia module of TMAP was between patients seen in clinics in which ALGO was used (n = 165) and patients seen in clinics in which no algorithms were used (n = 144). A third group of patients, seen in clinics using an algorithm for bipolar or major depressive disorder but not for schizophrenia, was also studied (n = 156). The ALGO group had modestly greater improvement in symptoms (Brief Psychiatric Rating Scale) during the first quarter of treatment. The TAU group caught up by the end of 12 months. Cognitive functions were more improved in ALGO than in TAU at 3 months, and this difference was greater at 9 months (the final cognitive assessment). In secondary comparisons of ALGO with the second TAU group, the greater improvement in cognitive functioning was again noted, but the initial symptom difference was not significant.

  15. Clinical Considerations of Preimplantation Genetic Diagnosis for Monogenic Diseases.

    Directory of Open Access Journals (Sweden)

    Xiaokun Hu

    Full Text Available The aim of this study was to explore factors contribute to the success of PGD cycles for monogenic diseases.During a 3-year period (January 2009 to December 2012, 184 consecutive ICSI-PGD cycles for monogenic diseases reaching the ovum pick-up and fresh embryo-transfer stage performed at the Reproductive Medicine Center of The First Affiliated Hospital Of Sun Yat-sen University were evaluated.ICSI was performed on 2206 metaphase II oocytes, and normal fertilization and cleavage rates were 83.4% (1840/2206 and 96.2% (1770/1840, respectively. In the present study, 60.5% (181/299 of day 3 good-quality embryos developed into good-quality embryos on day 4 after biopsy. Collectively, 42.9% clinical pregnancy rate (79/184 and 28.5% implantation rate (111/389 were presented. In the adjusted linear regression model, the only two significant factors affecting the number of genetically unaffected embryos were the number of biopsied embryos (coefficient: 0.390, 95%CI 0.317-0.463, P = 0.000 and basal FSH level (coefficient: 0.198, 95%CI 0.031-0.365, P = 0.021. In the adjusted binary logistic regression model, the only two significant factors affecting pregnancy outcome were the number of genetically available transferable embryos after PGD (adjusted OR 1.345, 95% CI 1.148-1.575, P = 0.000 and number of oocyte retrieved (adjusted OR 0.934, 95% CI 0.877-0.994, P = 0.031.There should be at least four biopsied embryos to obtain at least one unaffected embryos in a PGD system for patients with single gene disorder and under the condition of basal FSH level smaller than 8.0mmol/L. Moreover, if only a low number (< 4 of biopsied embryos are available on day 3, the chance of unaffected embryos for transfer was small, with poor outcome.

  16. Medical academia clinical experiences of Ward Round Teaching curriculum.

    Science.gov (United States)

    Haghani, Fariba; Arabshahi, Seyed Kamran Soltani; Bigdeli, Shoaleh; Alavi, Mousa; Omid, Athar

    2014-01-01

    Medical students spend most of their time in hospital wards and it is necessary to study clinical educational opportunities. This study was aimed to explore faculty members' experience on Ward Round Teaching content. This qualitative study was conducted by purposive sampling with the maximum variation of major clinical departments faculty members in Isfahan University of Medical Sciences (n = 9). Data gathering was based on deep and semi-structured interviews. Data gathering continued till data saturation. Data was analyzed through the Collaizzi method and validated. Strategies to ensure trustworthiness of data (credibility, dependability, conformability, transferability) were employed (Guba and Lincoln). Basic codes extracted from the analyzed data were categorized into two main themes and related subthemes, including (1) tangible teachings (analytic intelligence, technical intelligence, legal duties) and (2) implied teachings (professionalism, professional discipline, professional difficulties). Ward round teaching is a valuable opportunity for learners to learn not only patient care aspects but also ethical values. By appropriate planning, opportunities can be used to teach capabilities that are expected of general practitioners.

  17. Medical academia clinical experiences of Ward Round Teaching curriculum

    Directory of Open Access Journals (Sweden)

    Fariba Haghani

    2014-01-01

    Full Text Available Background: Medical students spend most of their time in hospital wards and it is necessary to study clinical educational opportunities. This study was aimed to explore faculty members′ experience on Ward Round Teaching content. Methods and Materials: This qualitative study was conducted by purposive sampling with the maximum variation of major clinical departments faculty members in Isfahan University of Medical Sciences (n = 9. Data gathering was based on deep and semi-structured interviews. Data gathering continued till data saturation.Data was analyzed through the Collaizzi method and validated. Strategies to ensure trustworthiness of data (credibility, dependability, conformability, transferability were employed (Guba and Lincoln. Results: Basic codes extracted from the analyzed data were categorized into two main themes and related subthemes, including (1 tangible teachings (analytic intelligence, technical intelligence, legal duties and (2 implied teachings (professionalism, professional discipline, professional difficulties. Conclusion: Ward round teaching is a valuable opportunity for learners to learn not only patient care aspects but also ethical values. By appropriate planning, opportunities can be used to teach capabilities that are expected of general practitioners.

  18. Medical Wikis Dedicated to Clinical Practice: A Systematic Review

    Science.gov (United States)

    Llorca, Guy; Letrilliart, Laurent

    2015-01-01

    Background Wikis may give clinician communities the opportunity to build knowledge relevant to their practice. The only previous study reviewing a set of health-related wikis, without specification of purpose or audience, globally showed a poor reliability. Objective Our aim was to review medical wiki websites dedicated to clinical practices. Methods We used Google in ten languages, PubMed, Embase, Lilacs, and Web of Science to identify websites. The review included wiki sites, accessible and operating, having a topic relevant for clinical medicine, targeting physicians or medical students. Wikis were described according to their purposes, platform, management, information framework, contributions, content, and activity. Purposes were classified as “encyclopedic” or “non-encyclopedic”. The information framework quality was assessed based on the Health On the Net (HONcode) principles for collaborative websites, with additional criteria related to users’ transparency and editorial policy. From a sample of five articles per wikis, we assessed the readability using the Flesch test and compared articles according to the wikis’ main purpose. Annual editorial activities were estimated using the Google engine. Results Among 25 wikis included, 11 aimed at building an encyclopedia, five a textbook, three lessons, two oncology protocols, one a single article, and three at reporting clinical cases. Sixteen wikis were specialized with specific themes or disciplines. Fifteen wikis were using MediaWiki software as-is, three were hosted by online wiki farms, and seven were purpose-built. Except for one MediaWiki-based site, only purpose-built platforms managed detailed user disclosures. The owners were ten organizations, six individuals, four private companies, two universities, two scientific societies, and one unknown. Among 21 open communities, 10 required users’ credentials to give editing rights. The median information framework quality score was 6 out of 16

  19. Learning style preferences among pre-clinical medical students

    Directory of Open Access Journals (Sweden)

    Aye Aye Mon

    2014-02-01

    Full Text Available Generally, different students employ different learning styles dur-ing their studies and medical students are exposed to diverse methods of teaching. Therefore, understanding students’ learning style preference is an important consideration for a high quality and effective teaching and learning process.The aim of the study was to study the variation of learning styles among pre-clinical medical students of SEGi University, Malaysia. A cross-sectional study was performed by using VARK (Visual, Audio, Reading and Kinaesthetic questionnaire version 7.2 to assess the learning style preference of 98 (n=98 pre-clinical medical students in SEGi University. The questionnaire consists of 16 items which identify four different learning styles: visual, aural, reading/writing and kin-esthetic. Descriptive statistics were used to identify the learning styles of students. 61 students preferred multimodal as their learning style, out of which 43 (70% of them were female stu-dents and 18 (30% were male students. 37 students preferred unimodal as their learning style out of which 22 (59% of them were female students and 15 (41% were male students. In addi-tion, female students had more diverse preferences than male students by having 10 out of the other 11 possible combinations in multimodal learning style of preference, whereas the male stu-dents only had 5 out of the 11 combinations. In this study, there was no significant gender difference in the percentages of males and female students who preferred unimodal and multimodal styles of information presentation (P= 0.263; α=0.05. To con-clude, the majority of students of both genders had chosen quad-modal as their learning style preference. The results of this study can provide useful information for improving the quality of the teaching and learning experiences of students.

  20. Nurses' clinical reasoning practices that support safe medication administration: An integrative review of the literature.

    Science.gov (United States)

    Rohde, Emily; Domm, Elizabeth

    2018-02-01

    To review the current literature about nurses' clinical reasoning practices that support safe medication administration. The literature about medication administration frequently focuses on avoiding medication errors. Nurses' clinical reasoning used during medication administration to maintain medication safety receives less attention in the literature. As healthcare professionals, nurses work closely with patients, assessing and intervening to promote mediation safety prior to, during and after medication administration. They also provide discharge teaching about using medication safely. Nurses' clinical reasoning and practices that support medication safety are often invisible when the focus is medication errors avoidance. An integrative literature review was guided by Whittemore and Knafl's (Journal of Advanced Nursing, 5, 2005 and 546) five-stage review of the 11 articles that met review criteria. This review is modelled after Gaffney et al.'s (Journal of Clinical Nursing, 25, 2016 and 906) integrative review on medical error recovery. Health databases were accessed and systematically searched for research reporting nurses' clinical reasoning practices that supported safe medication administration. The level and quality of evidence of the included research articles were assessed using The Johns Hopkins Nursing Evidence-Based Practice Rating Scale©. Nurses have a central role in safe medication administration, including but not limited to risk awareness about the potential for medication errors. Nurses assess patients and their medication and use knowledge and clinical reasoning to administer medication safely. Results indicated nurses' use of clinical reasoning to maintain safe medication administration was inadequately articulated in 10 of 11 studies reviewed. Nurses are primarily responsible for safe medication administration. Nurses draw from their foundational knowledge of patient conditions and organisational processes and use clinical reasoning that

  1. Clinical and genetic characterization of six cases with complete ...

    Indian Academy of Sciences (India)

    JING HE

    2017-08-31

    Aug 31, 2017 ... The molecular study of the AR gene facilitated the understanding of the mechanism of CAIS and provided the genetic ... recessive genetic disease, which is characterized by par- .... the interaction of AR protein and androgenic hormone. .... in a brazilian cohort: Five novel mutations in the androgen receptor ...

  2. Clinical and genetic correlates of decision making in anorexia nervosa.

    Science.gov (United States)

    Tenconi, Elena; Degortes, Daniela; Clementi, Maurizio; Collantoni, Enrico; Pinato, Claudia; Forzan, Monica; Cassina, Matteo; Santonastaso, Paolo; Favaro, Angela

    2016-01-01

    Decision-making (DM) abilities have been found to be impaired in anorexia nervosa (AN), but few data are available about the characteristics and correlates of this cognitive function. The aim of the present study was to provide data on DM functioning in AN using both veridical and adaptive paradigms. While in veridical DM tasks, the individual's ability to predict a true/false response is measured, adaptive DM is the ability to consider both internal and external demands in order to make a good choice, in the absence of a single true "correct" answer. The participants were 189 women, of whom 91 were eating-disordered patients with a lifetime diagnosis of anorexia nervosa, and 98 were healthy women. All the participants underwent clinical, neuropsychological, and genetic assessment. The cognitive evaluation included a set of neuropsychological tasks and two decision-making tests: The Iowa Gambling Task and the Cognitive Bias Task. Anorexia nervosa patients showed significantly poorer performances on both decision-making tasks than healthy women. The Cognitive Bias Task revealed that anorexia nervosa patients employed significantly more context-independent decision-making strategies, which were independent from diagnostic subtype, handedness, education, and psychopathology. In the whole sample (patients and controls), Cognitive Bias Task performance was independently predicted by lifetime anorexia nervosa diagnosis, body mass index at assessment, and 5-HTTLPR genotype. Patients displayed poor decision-making functioning in both veridical and adaptive situations. The difficulties detected in anorexia nervosa individuals may affect not only the ability to consider the future outcomes of their actions (leading to "myopia for the future"), but also the capacity to update and review one's own mindset according to new environmental stimuli.

  3. Severe hypertriglyceridemia in Norway: prevalence, clinical and genetic characteristics.

    Science.gov (United States)

    Retterstøl, Kjetil; Narverud, Ingunn; Selmer, Randi; Berge, Knut E; Osnes, Ingvild V; Ulven, Stine M; Halvorsen, Bente; Aukrust, Pål; Holven, Kirsten B; Iversen, Per O

    2017-06-12

    There is a lack of comprehensive patient-datasets regarding prevalence of severe hypertriglyceridemia (sHTG; triglycerides ≥10 mmol/L), frequency of co-morbidities, gene mutations, and gene characterization in sHTG. Using large surveys combined with detailed analysis of sub-cohorts of sHTG patients, we here sought to address these issues. We used data from several large Norwegian surveys that included 681,990 subjects, to estimate the prevalence. Sixty-five sHTG patients were investigated to obtain clinical profiles and candidate disease genes. We obtained peripheral blood mononuclear cells (PBMC) from six male patients and nine healthy controls and examined expression of mRNAs involved in lipid metabolism. The prevalence of sHTG was 0.13 (95% CI 0.12-0.14)%, and highest in men aged 40-49 years and in women 60-69 years. Among the 65 sHTG patients, a possible genetic cause was found in four and 11 had experienced acute pancreatitis. The mRNA expression levels of carnitine palmitoyltransferase (CPT)-1A, CPT2, and hormone-sensitive lipase, were significantly higher in patients compared to controls, whereas those of ATP-binding cassette, sub-family G, member 1 were significantly lower. In Norway, sHTG is present in 0.1%, carries considerable co-morbidity and is associated with an imbalance of genes involved in lipid metabolism, all potentially contributing to increased cardiovascular morbidity in sHTG.

  4. The Genetic Analysis of an Acinetobacter johnsonii Clinical Strain Evidenced the Presence of Horizontal Genetic Transfer.

    Directory of Open Access Journals (Sweden)

    Sabrina Montaña

    Full Text Available Acinetobacter johnsonii rarely causes human infections. While most A. johnsonii isolates are susceptible to virtually all antibiotics, strains harboring a variety of β-lactamases have recently been described. An A. johnsonii Aj2199 clinical strain recovered from a hospital in Buenos Aires produces PER-2 and OXA-58. We decided to delve into its genome by obtaining the whole genome sequence of the Aj2199 strain. Genome comparison studies on Aj2199 revealed 240 unique genes and a close relation to strain WJ10621, isolated from the urine of a patient in China. Genomic analysis showed evidence of horizontal genetic transfer (HGT events. Forty-five insertion sequences and two intact prophages were found in addition to several resistance determinants such as blaPER-2, blaOXA-58, blaTEM-1, strA, strB, ereA, sul1, aacC2 and a new variant of blaOXA-211, called blaOXA-498. In particular, blaPER-2 and blaTEM-1 are present within the typical contexts previously described in the Enterobacteriaceae family. These results suggest that A. johnsonii actively acquires exogenous DNA from other bacterial species and concomitantly becomes a reservoir of resistance genes.

  5. Genetic and mean bone-marrow doses from medical use of unsealed radioisotopes

    International Nuclear Information System (INIS)

    Keam, D.W.

    1980-06-01

    Annual genetically significant and mean bone-marrow doses to the Australian population arising from the medical use of unsealed radioisotopes are derived for the year 1970 using the results of a survey carried out at that time and published data on doses to individuals resulting from such use. Values of 3.9 and 38 microgray for the annual (per capita) genetic and mean bone-marrow doses respectively are reported, which are similar to those reported for other countries at about that time

  6. Genetics of Parkinson’s Disease - A Clinical Perspective

    Directory of Open Access Journals (Sweden)

    Sang-Myung Cheon

    2012-10-01

    Full Text Available Discovering genes following Medelian inheritance, such as autosomal dominant-synuclein and leucine-rich repeat kinase 2 gene, or autosomal recessive Parkin, P-TEN-induced putative kinase 1 gene and Daisuke-Junko 1 gene, has provided great insights into the pathogenesis of Parkinson’s disease (PD. Genes found to be associated with PD through investigating genetic polymorphisms or via the whole genome association studies suggest that such genes could also contribute to an increased risk of PD in the general population. Some environmental factors have been found to be associated with genetic factors in at-risk patients, further implicating the role of gene-environment interactions in sporadic PD. There may be confusion for clinicians facing rapid progresses of genetic understanding in PD. After a brief review of PD genetics, we will discuss the insight of new genetic discoveries to clinicians, the implications of ethnic differences in PD genetics and the role of genetic testing for general clinicians managing PD patients.

  7. Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.

    Science.gov (United States)

    Sharer, J Daniel; Bodamer, Olaf; Longo, Nicola; Tortorelli, Silvia; Wamelink, Mirjam M C; Young, Sarah

    2017-02-01

    Disclaimer: These ACMG Standards and Guidelines are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of others that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their professional judgment to the specific circumstances presented by the patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient's record the rationale for the use of a particular procedure or test, whether or not it is in conformance with these Standards and Guidelines. They also are advised to take notice of the date any particular guideline was adopted, and to consider other relevant 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.Cerebral creatine deficiency syndromes are neurometabolic conditions characterized by intellectual disability, seizures, speech delay, and behavioral abnormalities. Several laboratory methods are available for preliminary and confirmatory diagnosis of these conditions, including measurement of creatine and related metabolites in biofluids using liquid chromatography-tandem mass spectrometry or gas chromatography-mass spectrometry, enzyme activity assays in cultured cells, and DNA sequence analysis. These guidelines are intended to standardize these procedures to help optimize the diagnosis of creatine deficiency syndromes. While biochemical methods are emphasized, considerations for confirmatory molecular testing are also discussed

  8. Use of online clinical videos for clinical skills training for medical students: benefits and challenges.

    Science.gov (United States)

    Jang, Hye Won; Kim, Kyong-Jee

    2014-03-21

    Multimedia learning has been shown effective in clinical skills training. Yet, use of technology presents both opportunities and challenges to learners. The present study investigated student use and perceptions of online clinical videos for learning clinical skills and in preparing for OSCE (Objective Structured Clinical Examination). This study aims to inform us how to make more effective us of these resources. A mixed-methods study was conducted for this study. A 30-items questionnaire was administered to investigate student use and perceptions of OSCE videos. Year 3 and 4 students from 34 Korean medical schools who had access to OSCE videos participated in the online survey. Additionally, a semi-structured interview of a group of Year 3 medical students was conducted for an in-depth understanding of student experience with OSCE videos. 411 students from 31 medical schools returned the questionnaires; a majority of them found OSCE videos effective for their learning of clinical skills and in preparing for OSCE. The number of OSCE videos that the students viewed was moderately associated with their self-efficacy and preparedness for OSCE (p mobile devices; they agreed more with the statement that it was convenient to access the video clips than their peers who accessed the videos using computers (p students reported lack of integration into the curriculum and lack of interaction as barriers to more effective use of OSCE videos. The present study confirms the overall positive impact of OSCE videos on student learning of clinical skills. Having faculty integrate these learning resources into their teaching, integrating interactive tools into this e-learning environment to foster interactions, and using mobile devices for convenient access are recommended to help students make more effective use of these resources.

  9. Cystic fibrosis genetics: from molecular understanding to clinical application

    Science.gov (United States)

    Cutting, Garry R.

    2015-01-01

    The availability of the human genome sequence and tools for interrogating individual genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian conditions, which are caused by dysfunction of a single gene, offer powerful examples that illustrate how genetics can provide insights into disease. Cystic fibrosis, one of the more common lethalautosomal recessive Mendelian disorders, is presented here as an example. Recent progress in elucidating disease mechanism and causes of phenotypic variation, as well as in the development of treatments, demonstrates that genetics continues to play an important part in cystic fibrosis research 25 years after the d iscove1y of the disease-causing gene. PMID:25404111

  10. Simulation based virtual learning environment in medical genetics counseling: an example of bridging the gap between theory and practice in medical education.

    Science.gov (United States)

    Makransky, Guido; Bonde, Mads T; Wulff, Julie S G; Wandall, Jakob; Hood, Michelle; Creed, Peter A; Bache, Iben; Silahtaroglu, Asli; Nørremølle, Anne

    2016-03-25

    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. An entire class of 300 University of Copenhagen first-year undergraduate students, most with a major in medicine, received a 2-h 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 clinical practice were demonstrated. Knowledge (Cohen's d = 0.73), intrinsic motivation (d = 0.24), and self-efficacy (d = 0.46) significantly increased from the pre- to post-test. Low knowledge students showed the greatest increases in knowledge (d = 3.35) and self-efficacy (d = 0.61), but a non-significant increase in intrinsic motivation (d = 0.22). The medium and high knowledge students showed significant increases in knowledge (d = 1.45 and 0.36, respectively), motivation (d = 0.22 and 0.31), and self-efficacy (d = 0.36 and 0.52, respectively). Additionally, 90 % of students reported a greater 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 that they would feel more confident counseling a patient after the simulation. The simulation based learning environment increased students' learning, intrinsic motivation, and

  11. 77 FR 41431 - Proposed Collection; Comment Request: Impact of Clinical Research Training and Medical Education...

    Science.gov (United States)

    2012-07-13

    ... Request: Impact of Clinical Research Training and Medical Education at the Clinical Center on Physician Careers in Academia and Clinical Research SUMMARY: In compliance with the requirement of Section 3506(c)(2... approval. Proposed Collection Title: The Impact of Clinical Research Training and Medical Education at the...

  12. Factors Influencing Enrollment in the Medication Therapy Management Clinic at an Academic Ambulatory Care Clinic.

    Science.gov (United States)

    Shah, Mansi; Tilton, Jessica; Kim, Shiyun

    2016-04-01

    In 2001, the University of Illinois Hospital and Health Sciences System (UI Health) established a pharmacist-run, referral-based medication therapy management clinic (MTMC). Referrals are obtained from any UI Health provider or by self-referral. Although there is a high volume of referrals, a large percentage of patients do not enroll. This study was designed to determine the various factors that influence patient enrollment in the MTMC. This study was a retrospective chart review of demographic and patient variable data during years 2010 and 2011. Disabilities, distance from MTMC, mode of transportation, past medical history, and appointment dates were extracted from the medical records. Results were analyzed using descriptive statistics and logistic regression analysis. A total of 103 referrals were made; however, only 17% of patients remain enrolled in MTMC. The baseline demographics included a mean age of 63 years, 68% female, 70% African American, and 81% English speaking. Patients lived an average of 8 miles from MTMC; most utilized public or government-supplemented transport services; 24% of patients reported some type of disability, most commonly utilizing a walker or a wheelchair. On average, patients were prescribed 13 medications with hypertension (70%), diabetes (56%), and hyperlipidemia (48%) being the most common chronic disease states. The reason for referral included medication management, education, medication reconciliation, and disease state management. Five patients were unable to be contacted to schedule an initial appointment. Additionally, 18 patients failed their scheduled initial appointment and did not reschedule. Logistic regression analysis demonstrated distance traveled for clinic visit, age, and history of hypertension affected the probability of patients showing for their appointments (chi-square = 19.7, P < .001). This study demonstrated that distance from MTMC is the most common barrier in patient enrollment; therefore, strategies

  13. Clinical research ethics in Irish healthcare: diversity, dynamism and medicalization.

    LENUS (Irish Health Repository)

    Condell, Sarah L

    2012-11-01

    Gaining ethical clearance to conduct a study is an important aspect of all research involving humans but can be time-consuming and daunting for novice researchers. This article stems from a larger ethnographic study that examined research capacity building in Irish nursing and midwifery. Data were collected over a 28-month time frame from a purposive sample of 16 nurse or midwife research fellows who were funded to undertake full-time PhDs. Gaining ethical clearance for their studies was reported as an early \\'rite of passage\\' in the category of \\'labouring the doctorate\\'. This article penetrates the complexities in Irish clinical research ethics by describing the practices these nurse and midwife researchers encountered and the experiences they had. The key issue of representation that occurred in the context of \\'medicalized\\' research ethics is further explored including its meaning for nursing or midwifery research.

  14. Medical beam monitor—Pre-clinical evaluation and future applications

    Science.gov (United States)

    Frais-Kölbl, Helmut; Griesmayer, Erich; Schreiner, Thomas; Georg, Dietmar; Pernegger, Heinz

    2007-10-01

    Future medical ion beam applications for cancer therapy which are based on scanning technology will require advanced beam diagnostics equipment. For a precise analysis of beam parameters we want to resolve time structures in the range of microseconds to nanoseconds. A prototype of an advanced beam monitor was developed by the University of Applied Sciences Wiener Neustadt and its research subsidiary Fotec in co-operation with CERN RD42, Ohio State University and the Jožef Stefan Institute in Ljubljana. The detector is based on polycrystalline Chemical Vapor Deposition (pCVD) diamond substrates and is equipped with readout electronics up to 2 GHz analog bandwidth. In this paper we present the design of the pCVD-detector system and results of tests performed in various particle accelerator based facilities. Measurements performed in clinical high energy photon beams agreed within 1.2% with results obtained by standard ionization chambers.

  15. Medical beam monitor—Pre-clinical evaluation and future applications

    CERN Document Server

    Frais-Kölbl, H; Schreiner, T; Georg, D; Pernegger, H

    2007-01-01

    Future medical ion beam applications for cancer therapy which are based on scanning technology will require advanced beam diagnostics equipment. For a precise analysis of beam parameters we want to resolve time structures in the range of microseconds to nanoseconds. A prototype of an advanced beam monitor was developed by the University of Applied Sciences Wiener Neustadt and its research subsidiary Fotec in co-operation with CERN RD42, Ohio State University and the Jožef Stefan Institute in Ljubljana. The detector is based on polycrystalline Chemical Vapor Deposition (pCVD) diamond substrates and is equipped with readout electronics up to 2 GHz analog bandwidth. In this paper we present the design of the pCVD-detector system and results of tests performed in various particle accelerator based facilities. Measurements performed in clinical high energy photon beams agreed within 1.2% with results obtained by standard ionization chambers.

  16. [Assessment of clinical observation skills of last year medical students].

    Science.gov (United States)

    Steichen, O; Georgin-Lavialle, S; Grateau, G; Ranque, B

    2015-05-01

    Clinical examination skills are poorly evaluated by theoretical tests. We observed the clinical examination of real patients by 6th year medical students. Four internists involved in teaching activities defined 11 clinical examination items, with two objective performance criteria each. The students were evaluated in two internal medicine departments during the rotation preceding or following their national graduation test. Scores by item and by criterion and an overall score were calculated and correlated with their rank at the national graduation test. Thirty-two students were evaluated in one department and 18 in the other; each evaluation lasted approximately 30 minutes. The results were similar in both departments. Only 2 items got a score over 75% in this students' sample (acute respiratory failure, peripheral pulses); 4 items were satisfied at less than 50% (lymph nodes, right heart failure, liver failure, and attention). The mean overall score was 6.5/11 (standard deviation 1.5). National rankings were good (median 1605/8001, interquartile 453-3036) but uncorrelated with the global score (Spearman coefficient -0.13; P=0.39). Bedside evaluation of the students reveals substantial deficiencies, a few months or weeks before taking their position as residents. Several elementary skills are mastered by a minority of them (search for an asterixis, distended jugular veins, deep tendon reflexes), even among those successful at the national graduation test. Bedside evaluation of clinical examination skills should be more systematically performed. Copyright © 2014 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  17. Congenital hydrocephalus in clinical practice : A genetic diagnostic approach

    NARCIS (Netherlands)

    Verhagen, J. M. A.; Schrander-Stumpel, C. T. R. M.; Krapels, P. C.; de Die-Smulders, C. E. M.; van Lint, F. H. M.; Willekes, C.; Weber, J. W.; Gavilanes, A. W. D.; Macville, M. V. E.; Stegmann, A. P. A.; Engelen, J. J. M.; Bakker, J.; Vos, Y. J.; Frints, S. G. M.

    2011-01-01

    Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of congenital hydrocephalus. A retrospective survey was performed including patients with primary congenital hydrocephalus referred to the Department of

  18. EDITORIAL Clinical issues in genetic testing for multifactorial diseases

    African Journals Online (AJOL)

    Given the importance of MDs, detection of genetic predisposition is potentially attractive ... burden for affected individuals and families: disease is often early onset and ... to detection of BRCA-related breast cancer in a local public health sector.

  19. [Thyrotoxic hypokalemic periodic paralysis, an endocrine emergency: clinical and genetic features in 25 patients].

    Science.gov (United States)

    Silva, Magnus R Dias da; Chiamolera, Maria Izabel; Kasamatsu, Teresa S; Cerutti, Janete M; Maciel, Rui M B

    2004-02-01

    Thyrotoxic hypokalemic periodic paralysis (THPP) is a medical emergency characterized by acute attacks of weakness, hypokalemia, and thyrotoxicosis that resolve with the treatment of hyperthyroidism. Attacks are transient, self-limited, associated with hypokalemia and resemble those of familial hypokalemic periodic paralysis (FHPP), an autosomal dominant neurological channelopathy. This study reviews the clinical features and genetic findings of THPP in 25 Brazilian patients. Most patients had weight loss, taquicardia, goiter, tremor, and ophthalmopathy. Most often attacks arose during the night and recovered spontaneously but some patients evolved to total quadriplegia, and few experienced cardiac arrhythmias. All patients had suppressed TSH and elevated T4 and most had positive anti-thyroid antibodies, indicating autoimmunity thyrotoxic etiology. Potassium was low in all patients during the crisis. Prophylactic potassium therapy has not been shown to prevent attacks; however it was useful for curbing the paralysis during the crisis. We identified the mutation R83H in the KCNE3 gene in one sporadic case, and M58V in the KCNE4 gene in one case with family history. Furthermore, we identified other genetic polymorphisms in the CACNA1S, SCN4A, KCNE1, KCNE2, KCNE1L, KCNJ2, KCNJ8 e KCNJ11 genes. We conclude that THPP is the most common treatable cause of acquired periodic paralysis; therefore, it must be included in the differential diagnosis of acute muscle weakness.

  20. Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study.

    Science.gov (United States)

    Rivera, B; González, S; Sánchez-Tomé, E; Blanco, I; Mercadillo, F; Letón, R; Benítez, J; Robledo, M; Capellá, G; Urioste, M

    2011-04-01

    Classical familial adenomatous polyposis (FAP) is characterized by the appearance of >100 colorectal adenomas. We screened the APC and MUTYH genes for mutations and evaluated the genotype-phenotype correlation in 136 Spanish classical FAP families. APC/MUTYH mutations were detected in 107 families. Sixty-four distinct APC point mutations were detected in 95 families of which all were truncating mutations. A significant proportion (39.6%) had not been previously reported. Mutations were spread over the entire coding region and great rearrangements were identified in six families. Another six families exhibited biallelic MUTYH mutations. No APC or MUTYH mutations were detected in 29 families. These APC/MUTYH-negative families showed clinical differences with the APC-positive families. A poor correlation between phenotype and mutation site was observed. Our results highlight that a broad approach in the genetic study must be considered for classical FAP due to involvement of both APC and MUTYH and the heterogeneous spectrum of APC mutations observed in this Spanish population. The scarcely consistent genotype-phenotype correlation does not allow making specific recommendations regarding screening and management. Differences observed in APC/MUTYH-negative families may reflect a genetic basis other than mutations in APC and MUTYH genes for FAP predisposition. © The Author 2010. Published by Oxford University Press on behalf of the European Society for Medical Oncology.

  1. Medical And Genetic Monitoring of Population Around Semipalatinsk Test-site

    International Nuclear Information System (INIS)

    Kayupova, N.A.; Svyatova, G.S.; Abildinova, G.Zh.

    1998-01-01

    Up to present, there is no one positive opinion about the effect of a small amount of ionizing radiation doses on the genetic system of a human being. In connection with it, the all-round medical and genetic researches conducted by a united methodical basis and intended to study general mutagen and teratogen radiation effects are of a certain significance. With that end in view, the medical and genetic testing of a number of rural population around Semipalatinsk test-site (STS) was conducted. The all-round methods of medical and genetic consequences evaluation were developed, and 'active revealing of the congenital fetation disease (CFD)' method was submitted for consideration. Aside from analysis of the general genetic and demographic data, outcomes of more than 160.000 confinements were studied, and a high frequency rate of the CFD of 'the strict recording' (6.11 per 1000 new-born children in areas of extreme radiation hazard) was discovered, that surely exceeded the similar index for the monitored areas (2.92 per 1000 new-born children). A higher frequency rate of the Down's syndrome and numerous CFD (1.66 and 1.07 per 1000 new-born children accordingly) were revealed as well. As a result of the cytogenetic monitoring of the tested population, it was ascertained that a total frequency rate of the aberrant cell emergence was equal to 4.9 per 100 cells, that is 3.9 times as much than the similar index for the monitored area. A high frequency rate of the markers induced by radiation was discovered, which proved the increased mutagen effect of the environment. Biological presentation of the radiation effect on population was conducted in two methods of the biological monitoring, and according to the frequency rate of the chromosomal aberrations in lymphocytes of peripheral blood, that are induced by radiation, and electro paramagnetic resonance of teeth enamel (Kazakhstan national Nuclear Center). The results of the medical and genetic research conducted were an

  2. PREIMPLANTATION GENETIC DIAGNOSIS – 4 YEARS’ EXPERIENCE AT THE DEPARTMENT OF GYNECOLOGY, UNIVERSITY MEDICAL CENTRE LJUBLJANA

    Directory of Open Access Journals (Sweden)

    Karin Writzl

    2018-02-01

    Full Text Available Background. Preimplantation genetic diagnosis offers early investigation of embryos in couples with a high risk for offspring affected by a genetic disease. We report indications and results associated with the PGD program conducted at Gynecology Clinic Ljubljana from June 2004 to December 2008. Methods. The retrospective analysis includes sixty cycles performed in 34 couples enrolled in the PGD programe. Embryos were biopsied on the third day and the genetic analysis was performed using the FISH and PCR methods. Embryo transfers were carried out on the fifth day. Results. The main indications were chromosomal abnormalities (67 %, followed by recurrent miscarriages (16 %, autosomal dominant and recessive diseases (9 %, and X-linked diseases (6 %. Sixty cycles were performed and 48 embryo transfer procedures. There were 15 clinical pregnancies resulting in clinical pregnancy rate 25 % per cycle and 37.5 % per embryo transfer. A total of eight unaffected children were born, and two pregnancies are still ongoing. Conclusions. PGD is technically a very challenging procedure. Superior knowledge and communication between geneticists and reproductive medicine scientists is mandatory for successful PGD procedures. PGD has gained a place among the choices offered at Gynecology Clinic Ljubljana to couples at risk of transmission of genetic disease.

  3. Medical education and cognitive continuum theory: an alternative perspective on medical problem solving and clinical reasoning.

    Science.gov (United States)

    Custers, Eugène J F M

    2013-08-01

    Recently, human reasoning, problem solving, and decision making have been viewed as products of two separate systems: "System 1," the unconscious, intuitive, or nonanalytic system, and "System 2," the conscious, analytic, or reflective system. This view has penetrated the medical education literature, yet the idea of two independent dichotomous cognitive systems is not entirely without problems.This article outlines the difficulties of this "two-system view" and presents an alternative, developed by K.R. Hammond and colleagues, called cognitive continuum theory (CCT). CCT is featured by three key assumptions. First, human reasoning, problem solving, and decision making can be arranged on a cognitive continuum, with pure intuition at one end, pure analysis at the other, and a large middle ground called "quasirationality." Second, the nature and requirements of the cognitive task, as perceived by the person performing the task, determine to a large extent whether a task will be approached more intuitively or more analytically. Third, for optimal task performance, this approach needs to match the cognitive properties and requirements of the task. Finally, the author makes a case that CCT is better able than a two-system view to describe medical problem solving and clinical reasoning and that it provides clear clues for how to organize training in clinical reasoning.

  4. Alpha1-antitrypsin deficiency: a clinical-genetic overview

    Directory of Open Access Journals (Sweden)

    Abboud RT

    2011-03-01

    in patients with chronic irreversible airflow obstruction, especially in those with early onset of disease or positive family history. Testing is also recommended for immediate family members of those with AATD, asthmatics with persistent airflow obstruction, and infants and older subjects with unexplained liver disease. There are over 100 different AAT gene variants; most are rare and only some are associated with clinical disease.Keywords: AAT, AATD, ZZ, early onset emphysema, panacinar emphysema, neonatal jaundice and hepatitis, childhood liver disease, genetics of alpha1-antitrypsin, alpha1-antitrypsin laboratory testing and phenotyping

  5. A Taxonomy of Medical Uncertainties in Clinical Genome Sequencing

    Science.gov (United States)

    Han, Paul K. J.; Umstead, Kendall L.; Bernhardt, Barbara A.; Green, Robert C.; Joffe, Steven; Koenig, Barbara; Krantz, Ian; Waterston, Leo B.; Biesecker, Leslie G.; Biesecker, Barbara B.

    2017-01-01

    Purpose Clinical next generation sequencing (CNGS) is introducing new opportunities and challenges into the practice of medicine. Simultaneously, these technologies are generating uncertainties of unprecedented scale that laboratories, clinicians, and patients are required to address and manage. We describe in this report the conceptual design of a new taxonomy of uncertainties around the use of CNGS in health care. Methods Interviews to delineate the dimensions of uncertainty in CNGS were conducted with genomics experts, and themes were extracted in order to expand upon a previously published three-dimensional taxonomy of medical uncertainty. In parallel we developed an interactive website to disseminate the CNGS taxonomy to researchers and engage them in its continued refinement. Results The proposed taxonomy divides uncertainty along three axes: source, issue, and locus, and further discriminates the uncertainties into five layers with multiple domains. Using a hypothetical clinical example, we illustrate how the taxonomy can be applied to findings from CNGS and used to guide stakeholders through interpretation and implementation of variant results. Conclusion The utility of the proposed taxonomy lies in promoting consistency in describing dimensions of uncertainty in publications and presentations, to facilitate research design and management of the uncertainties inherent in the implementation of CNGS. PMID:28102863

  6. Efficient replication of over 180 genetic associations with self-reported medical data.

    Science.gov (United States)

    Tung, Joyce Y; Do, Chuong B; Hinds, David A; Kiefer, Amy K; Macpherson, J Michael; Chowdry, Arnab B; Francke, Uta; Naughton, Brian T; Mountain, Joanna L; Wojcicki, Anne; Eriksson, Nicholas

    2011-01-01

    While the cost and speed of generating genomic data have come down dramatically in recent years, the slow pace of collecting medical data for large cohorts continues to hamper genetic research. Here we evaluate a novel online framework for obtaining large amounts of medical information from a recontactable cohort by assessing our ability to replicate genetic associations using these data. Using web-based questionnaires, we gathered self-reported data on 50 medical phenotypes from a generally unselected cohort of over 20,000 genotyped individuals. Of a list of genetic associations curated by NHGRI, we successfully replicated about 75% of the associations that we expected to (based on the number of cases in our cohort and reported odds ratios, and excluding a set of associations with contradictory published evidence). Altogether we replicated over 180 previously reported associations, including many for type 2 diabetes, prostate cancer, cholesterol levels, and multiple sclerosis. We found significant variation across categories of conditions in the percentage of expected associations that we were able to replicate, which may reflect systematic inflation of the effects in some initial reports, or differences across diseases in the likelihood of misdiagnosis or misreport. We also demonstrated that we could improve replication success by taking advantage of our recontactable cohort, offering more in-depth questions to refine self-reported diagnoses. Our data suggest that online collection of self-reported data from a recontactable cohort may be a viable method for both broad and deep phenotyping in large populations.

  7. Efficient replication of over 180 genetic associations with self-reported medical data.

    Directory of Open Access Journals (Sweden)

    Joyce Y Tung

    Full Text Available While the cost and speed of generating genomic data have come down dramatically in recent years, the slow pace of collecting medical data for large cohorts continues to hamper genetic research. Here we evaluate a novel online framework for obtaining large amounts of medical information from a recontactable cohort by assessing our ability to replicate genetic associations using these data. Using web-based questionnaires, we gathered self-reported data on 50 medical phenotypes from a generally unselected cohort of over 20,000 genotyped individuals. Of a list of genetic associations curated by NHGRI, we successfully replicated about 75% of the associations that we expected to (based on the number of cases in our cohort and reported odds ratios, and excluding a set of associations with contradictory published evidence. Altogether we replicated over 180 previously reported associations, including many for type 2 diabetes, prostate cancer, cholesterol levels, and multiple sclerosis. We found significant variation across categories of conditions in the percentage of expected associations that we were able to replicate, which may reflect systematic inflation of the effects in some initial reports, or differences across diseases in the likelihood of misdiagnosis or misreport. We also demonstrated that we could improve replication success by taking advantage of our recontactable cohort, offering more in-depth questions to refine self-reported diagnoses. Our data suggest that online collection of self-reported data from a recontactable cohort may be a viable method for both broad and deep phenotyping in large populations.

  8. Medication Abortion within a Student Health Care Clinic: A Review of the First 46 Consecutive Cases

    Science.gov (United States)

    Godfrey, Emily M.; Bordoloi, Anita; Moorthie, Mydhili; Pela, Emily

    2012-01-01

    Objective: Medication abortion with mifepristone and misoprostol has been available in the United States since 2000. The authors reviewed the first 46 medication abortion cases conducted at a university-based student health care clinic to determine the safety and feasibility of medication abortion in this type of clinical setting. Participants:…

  9. BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.

    Science.gov (United States)

    Eccles, D M; Mitchell, G; Monteiro, A N A; Schmutzler, R; Couch, F J; Spurdle, A B; Gómez-García, E B

    2015-10-01

    Increasing use of BRCA1/2 testing for tailoring cancer treatment and extension of testing to tumour tissue for somatic mutation is moving BRCA1/2 mutation screening from a primarily prevention arena delivered by specialist genetic services into mainstream oncology practice. A considerable number of gene tests will identify rare variants where clinical significance cannot be inferred from sequence information alone. The proportion of variants of uncertain clinical significance (VUS) is likely to grow with lower thresholds for testing and laboratory providers with less experience of BRCA. Most VUS will not be associated with a high risk of cancer but a misinterpreted VUS has the potential to lead to mismanagement of both the patient and their relatives. Members of the Clinical Working Group of ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) global consortium (www.enigmaconsortium.org) observed wide variation in practices in reporting, disclosure and clinical management of patients with a VUS. Examples from current clinical practice are presented and discussed to illustrate potential pitfalls, explore factors contributing to misinterpretation, and propose approaches to improving clarity. Clinicians, patients and their relatives would all benefit from an improved level of genetic literacy. Genetic laboratories working with clinical geneticists need to agree on a clinically clear and uniform format for reporting BRCA test results to non-geneticists. An international consortium of experts, collecting and integrating all available lines of evidence and classifying variants according to an internationally recognized system, will facilitate reclassification of variants for clinical use. © The Author 2015. Published by Oxford University Press on behalf of the European Society for Medical Oncology. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  10. Study of Clinical and Genetic Risk Factors for Aspirin-induced Gastric Mucosal Injury

    Directory of Open Access Journals (Sweden)

    Yun Wu

    2016-01-01

    Full Text Available Background: Current knowledge about clinical and genetic risk factors for aspirin-induced gastric mucosal injury is not sufficient to prevent these gastric mucosal lesions. Methods: We recruited aspirin takers as the exposed group and healthy volunteers as the control group. The exposed group was categorized into two subgroups such as subgroup A as gastric mucosal injury diagnosed by gastroscopy, including erosion, ulcer or bleeding of the esophagus, stomach, or duodenum; subgroup B as no injury of the gastric mucosa was detected by gastroscopy. Clinical information was collected, and 53 single nucleotide polymorphisms were evaluated. Results: Among 385 participants, 234 were in the aspirin-exposed group. According to gastroscopy, 82 belonged to subgroup A, 91 belonged to subgroup B, and gastroscopic results of 61 participants were not available. Using the Chi-square test and logistic regression, we found that peptic ulcer history (odds ratio [OR] = 5.924, 95% confidence intervals [CI]: 2.115-16.592, dual anti-platelet medication (OR = 3.443, 95% CI: 1.154-10.271, current Helicobacter pylori infection (OR = 2.242, 95% CI: 1.032-4.870, male gender (OR = 2.211, 95% CI: 1.027-4.760, GG genotype of rs2243086 (OR = 4.516, 95% CI: 1.180-17.278, and AA genotype of rs1330344 (OR = 2.178, 95% CI: 1.016-4.669 were more frequent in subgroup A than subgroup B. In aspirin users who suffered from upper gastrointestinal bleeding, the frequency of the TT genotype of rs2238631 and TT genotype of rs2243100 was higher than in those without upper gastrointestinal bleeding. Conclusions: Peptic ulcer history, dual anti-platelet medication, H. pylori current infection, and male gender were possible clinical risk factors for aspirin-induced gastric mucosal injury. GG genotype of rs2243086 and AA genotype of rs1330344 were possible genetic risk factors. TT genotype of rs2238631 and TT genotype of rs2243100 may be risk factors for upper gastrointestinal bleeding in

  11. Clinical and genetic examinations of children with one parent whose gonads were therapeutically irradiated before conception

    International Nuclear Information System (INIS)

    Neumeister, K.; Herrmann, T.; Koelling, H.L.; Oelssner, W.; Schoeneich, R.

    1978-01-01

    A systematic program for investigating genetic radiation hazards is outlined. The program is aimed at obtaining clinical, genetic and biochemical data on children with one parent whose gonads were exposed to therapeutic radiation before conception. First results obtained show that there is no contraindication against radiotherapy. However, it is recommended to consult a geneticist in such cases. (author)

  12. Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries

    DEFF Research Database (Denmark)

    Lundin, Catarina; Forestier, Erik; Klarskov Andersen, Mette

    2014-01-01

    BACKGROUND: Children with Down syndrome (DS) have an increased risk for acute lymphoblastic leukemia (ALL). Although previous studies have shown that DS-ALL differs clinically and genetically from non-DS-ALL, much remains to be elucidated as regards genetic and prognostic factors in DS-ALL. METHODS...

  13. 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. Copyright © 2016. Published by Elsevier Ireland Ltd.

  14. 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.

  15. Nephrogenic diabetes insipidus (NDI: clinical, laboratory and genetic characterization of five Brazilian patients

    Directory of Open Access Journals (Sweden)

    Maria Helena Vaisbich

    2009-05-01

    Full Text Available INTRODUCTION: Nephrogenic diabetes insipidus is characterized by a lack of response in the distal nephron to the antidiuretic hormone arginine vasopressin. Manifestations include polyuria, polydipsia, hyposthenuria, recurrent episodes of dehydration and fever and growth failure. Most cases are caused by mutations in the AVPR2 gene. The mutant receptors are trapped intracellularly. METHOD: We studied five boys using clinical, laboratory and molecular data. The mean age at diagnosis was 14.6 months (range 6 to 24 and 12.2 years (7.8 to 19 after the follow-up period. The mean period of follow-up was 132.2 ± 50.9 months. RESULTS: The geometric means of the z-scores of weight and stature were -4.5 and -3.6, respectively, at diagnosis. At the last medical appointment, the z-scores of weight and stature were -0.3 and -0.9, respectively. Three patients were diagnosed with ureterohydronephrosis and exhibited increased post-void urine volume. Mutations in the AVPR2 gene were found in all patients, and the carrier status was confirmed in four of five cases. Two unrelated children presented identical mutations (S167L in arginine vasopressin R2. Two of the patients had a mutation that has already been described in other Brazilian families (R337X, and one patient showed a de novo mutation (Y128D in arginine vasopressin R2, since his mother's molecular analysis was normal. The recurrence risk for this family was significantly reduced. CONCLUSION: This study reports the clinical and laboratory characterization of Nephrogenic diabetes insipidus and reiterates the importance of the genetic basis that underlies the disease diagnosis and genetic counseling.

  16. Genetics in endocrinology: genetic variation in deiodinases: a systematic review of potential clinical effects in humans

    NARCIS (Netherlands)

    Verloop, H.; Dekkers, O.M.; Peeters, R.P.; Schoones, J.W.; Smit, J.W.

    2014-01-01

    Iodothyronine deiodinases represent a family of selenoproteins involved in peripheral and local homeostasis of thyroid hormone action. Deiodinases are expressed in multiple organs and thyroid hormone affects numerous biological systems, thus genetic variation in deiodinases may affect multiple

  17. Clinical and genetic aspects of Marfan syndrome and familial thoracic aortic aneurysms and dissections

    NARCIS (Netherlands)

    Hilhorst-Hofstee, Yvonne

    2013-01-01

    This thesis concerns the clinical and genetic aspects of familial thoracic aortic aneurysms and dissections, in particular in Marfan syndrome. It includes the Dutch multidisciplinary guidelines for diagnosis and management of Marfan syndrome. These guidelines contain practical directions for

  18. The Noonan Syndrome--A Review of the Clinical and Genetic Features of 27 Cases

    Science.gov (United States)

    Collins, Edith; Turner, Gillian

    1973-01-01

    Reviewed were clinical and genetic features of 27 cases of the Noonan Syndrome, a condition with characteristics such as webbing of the neck, short stature, frequent congential heart lesions, and chromosomal irregularities. (DB)

  19. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

    DEFF Research Database (Denmark)

    Ng, Yi Shiau; Alston, Charlotte L; Diodato, Daria

    2016-01-01

    BACKGROUND: Mutations in the RMND1 (Required for Meiotic Nuclear Division protein 1) gene have recently been linked to infantile onset mitochondrial disease characterised by multiple mitochondrial respiratory chain defects. METHODS: We summarised the clinical, biochemical and molecular genetic in...

  20. Clinical and genetic assessment of pediatric patients with Gaucher's ...

    African Journals Online (AJOL)

    Background: Gaucher's disease (GD) is an autosomal recessive genetic disorder that results from pathogenic mutations of GBA gene encoding the enzyme glucocerebrosidase (acid b-glucosidase). Of the approximately 300 mutations associated with GD, 4 accounts for the majority of mutations seen in GD patients: N370S, ...

  1. A Clinical Perspective on Ethical Issues in Genetic Testing

    NARCIS (Netherlands)

    Sijmons, R. H.; Van Langen, I. M.; Sijmons, J. G.

    2011-01-01

    Genetic testing is traditionally preceded by counselling to discuss its advantages and disadvantages with individuals so they can make informed decisions. The new technique of whole genome or exome sequencing, which is currently only used in research settings, can identify many gene mutations,

  2. Genetic variant of canine distemper virus from clinical cases in ...

    African Journals Online (AJOL)

    Canine distemper virus (CDV) is a highly contagious viral pathogen of worldwide distribution that can cause lethal disease in domestic dogs and other members of the family Canidae. Genetic diversity is found among reference strains and isolates of CDV, mainly in the haemagglutinin (H) protein, and this may be ...

  3. Clinical evaluation of a medical high dynamic range display

    International Nuclear Information System (INIS)

    Marchessoux, Cedric; Paepe, Lode de; Vanovermeire, Olivier; Albani, Luigi

    2016-01-01

    Purpose: Recent new medical displays do have higher contrast and higher luminance but do not have a High Dynamic Range (HDR). HDR implies a minimum luminance value close to zero. A medical HDR display prototype based on two Liquid Crystal layers has been developed. The goal of this study is to evaluate the potential clinical benefit of such display in comparison with a low dynamic range (LDR) display. Methods: The study evaluated the clinical performance of the displays in a search and detection task. Eight radiologists read chest x-ray images some of which contained simulated lung nodules. The study used a JAFROC (Jacknife Free Receiver Operating Characteristic) approach for analyzing FROC data. The calculated figure of merit (FoM) is the probability that a lesion is rated higher than all rated nonlesions on all images. Time per case and accuracy for locating the center of the nodules were also compared. The nodules were simulated using Samei’s model. 214 CR and DR images [half were “healthy images” (chest nodule-free) and half “diseased images”] were used resulting in a total number of nodules equal to 199 with 25 images with 1 nodule, 51 images with 2 nodules, and 24 images with 3 nodules. A dedicated software interface was designed for visualizing the images for each session. For the JAFROC1 statistical analysis, the study is done per nodule category: all nodules, difficult nodules, and very difficult nodules. Results: For all nodules, the averaged FoM HDR is slightly higher than FoM LDR with 0.09% of difference. For the difficult nodules, the averaged FoM HDR is slightly higher than FoM LDR with 1.38% of difference. The averaged FoM HDR is slightly higher than FoM LDR with 0.71% of difference. For the true positive fraction (TPF), both displays (the HDR and the LDR ones) have similar TPF for all nodules, but looking at difficult and very difficult nodules, there are more TP for the HDR display. The true positive fraction has been also computed in

  4. A Duty To Warn Relatives in Clinical Genetics: Arguably ‘Fair just and reasonable’ in English Law?

    Science.gov (United States)

    Mitchell, C; Ploem, M C; Hennekam, R C M; Kaye, J

    2016-01-01

    The use of ‘next-generation’ genetic sequencing technology that allows the sequencing of large parts, or even the entirety, of a patient’s genome is advancing rapidly in the UK and around the world. This is set to greatly increase the level of health information that will be of relevance to relatives and the latest medical guidance advises that there is a professional duty to consider warning a patient’s relatives of a serious genetic risk in limited circumstances. However, the High Court in ABC v St George’s Healthcare NHS Trust [2015] EWHC 1394 (QB), recently found that a legal duty on the part of doctors to warn a patient’s daughter of a genetic risk of Huntington’s Disease without the patient’s consent, was not even ‘reasonably arguable’ and would not be ‘fair, just and reasonable’. This article considers the courts’ approach to a duty of care towards ‘third parties’ in this context and concludes that some form of a duty of care to genetic relatives in clinical genetics is at very least arguably ‘fair, just and reasonable’. PMID:27478488

  5. Severe myoclonic epilepsy of infancy (Dravet syndrome: Clinical and genetic features of nine Turkish patients

    Directory of Open Access Journals (Sweden)

    Meral Özmen

    2011-01-01

    Full Text Available Purpose: Mutations of the a-1 subunit sodium channel gene (SCN1A cause severe myoclonic epilepsy of infancy (SMEI. To date, over 300 mutations related to SMEI have been described. In the present study, we report new SCN1A mutations and the clinical features of SMEI cases. Materials and Methods: We studied the clinical and genetic features of nine patients diagnosed with SMEI at the Pediatric Neurology Department of Istanbul Medical Faculty. Results: Five patients had nonsense mutations, two had missense mutations, one had a splice site mutation and one had a deletion mutation of the SCN1A gene. Mutations at c.3705+5G splice site, p.trip153X nonsense mutation and deletion at c.2416_2946 have not been previously described. The seizures started following whole cell pertussis vaccination in all patients. The seizures ceased in one patient and continued in the other eight patients. Developmental regression was severe in three patients, with frequent status epilepticus. The type of mutation was not predictive for the severity of the disease. Two of the three patients with severe regression had nonsense and missense mutations. Conclusions : Dravet syndrome can be result of several different types of mutation in SCN1A gene. Onset of the seizures after pertussis vaccination is an important clue for the diagnosis and neuro- developmental delay should be expected in all patients.

  6. Advancing Medication Reconciliation in an Outpatient Internal Medicine Clinic through a Pharmacist-Led Educational Initiative

    Directory of Open Access Journals (Sweden)

    Sarah M. Westberg, Pharm.D.

    2010-01-01

    Full Text Available Objectives: To develop and deliver an effective pharmacist-led educational initiative to clinic staff to advance medication reconciliation in the electronic medical record of an outpatient internal medicine clinic.Methods: An educational initiative designed to improve the ability of nursing staff in medication reconciliation was launched in the outpatient internal medicine clinic of a regional healthcare system. The education was provided by the pharmacist to clinic nursing staff, including registered nurses, licensed practical nurses, and certified medical assistants. The impact of this training was measured through pre-initiation and post-implementation surveys, competency assessments and an audit. Results: The educational initiative was successfully designed and delivered to clinic nursing staff. Assessment of the initiative found that all nursing staff completing competency assessments successfully passed. Pre-initiation- and post-implementation- survey responses on the self-assessed ability to gather and document accurate medication lists did not show significant changes. Informal observations in the clinic indicated that this initiative changed the culture of the clinic, creating increased awareness of the importance of accurate medications and increased emphasis on medication reconciliation.Conclusions: The expertise of pharmacists can be utilized to educate nursing staff on the skills and abilities necessary to gather and document accurate medication lists. This study did not find measurable changes in the accuracy of medication lists in this clinic. Future research is needed to determine the best methods to train health professionals in medication reconciliation to ensure accurate medication lists in the outpatient setting.

  7. 78 FR 66941 - Design Considerations for Pivotal Clinical Investigations for Medical Devices; Guidance for...

    Science.gov (United States)

    2013-11-07

    .... 66, rm. 2110, Silver Spring, MD 20993-0002, 301- 796-5750. For devices regulated by CBER: Stephen... the best clinical and statistical practices for investigational medical device studies. A medical...

  8. Developing education tailored to clinical roles: genetics education for haemophilia nurses.

    Science.gov (United States)

    Burke, Sarah; Barker, Colin; Marshall, Dianne

    2012-01-01

    Genetics is an important component of the clinical work of haemophilia nurses, but little was known about the genetic education needs of haemophilia nurses. To develop, deliver and evaluate genetic education for haemophilia nurses, based on clinical roles. Perceived relevance of genetics to haemophilia nursing practice was explored using electronic voting (response rate 75%, 58/77). A follow-on questionnaire to a volunteer sample of participants explored educational preferences (response rate 41%, 17/41). Results informed development of a two-hour genetics workshop session, evaluated by questionnaire (response rate 67%, 47/70). Genetic competences were considered relevant to the clinical practice of haemophilia nurses, and learning needs were identified. Preference was expressed for education focused on practical skills. During the subsequent workshop, participant confidence ratings significantly increased in the four areas addressed. Planned changes to clinical care and training were reported. Within new areas of advanced nursing practice, learning needs can be addressed by: identifying relevant clinical activities and associated learning needs; creating a strategy and resources using preferred forms of delivery; implementing the strategy; and evaluating its effect. This will enable development of education that addresses the real needs of practising nurses, grounded in their daily clinical practice. Copyright © 2011 Elsevier Ltd. All rights reserved.

  9. A Genetic Animal Model of Alcoholism for Screening Medications to Treat Addiction

    Science.gov (United States)

    Bell, Richard L.; Hauser, Sheketha; Rodd, Zachary A.; Liang, Tiebing; Sari, Youssef; McClintick, Jeanette; Rahman, Shafiqur; Engleman, Eric A.

    2016-01-01

    The purpose of this review is to present up-to-date pharmacological, genetic and behavioral findings from the alcohol-preferring P rat and summarize similar past work. Behaviorally, the focus will be on how the P rat meets criteria put forth for a valid animal model of alcoholism with a highlight on its use as an animal model of polysubstance abuse, including alcohol, nicotine and psychostimulants. Pharmacologically and genetically, the focus will be on the neurotransmitter and neuropeptide systems that have received the most attention: cholinergic, dopaminergic, GABAergic, glutamatergic, serotonergic, noradrenergic, corticotrophin releasing hormone, opioid, and neuropeptide Y. Herein we sought to place the P rat’s behavioral and neurochemical phenotypes, and to some extent its genotype, in the context of the clinical literature. After reviewing the findings thus far, this paper discusses future directions for expanding the use of this genetic animal model of alcoholism to identify molecular targets for treating drug addiction in general. PMID:27055615

  10. Clinical phenotype and genetic mutation of fatty acid hydroxylase - associated neurodegeneration: analysis of four cases

    Directory of Open Access Journals (Sweden)

    Xiao-jun HUANG

    2017-07-01

    Full Text Available Objective To report 4 cases of fatty acid hydroxylase - associated neurodegeneration (FAHN and to summarize the clinical and genetic characteristics of FAHN by literatures review.  Methods Four cases of FAHN patients' clinical and family data were collected in detail. The gDNA of patients and their parents were extracted from peripheral blood. FA2H gene was conducted and followed by Sanger sequencing.  Results Among the 4 cases, 3 cases (Case 2, Case 3, Case 4 presented typical manifestations of FAHN while the other (Case 1 was atypical. Genetic sequencing showed FA2H gene mutation in all affected patients. Compound heterozygous mutation c.461G > A (p.Arg154His and c.794T > G (p.Phe265Cys were seen in Case 1. In Case 2, only one documented heterozygous mutation c.703C > T (p.Arg235Cys was found, and dificit mutation was not found in single nucleotide polymorphism (SNP chip test of the patient and her mother. Compound heterozygous mutation c.688G > A (p.Glu230Lys and insertion mutation c.172_173insGGGCCAGGAC (p.Ile58ArgfsX47 were presented in Case 3. In Case 4, compound heterozygous mutation c.688G > A (p.Glu230Lys, c.968C > A (p.Pro323Gln and c.976G > A (p. Gly326Asp were seen, while his father was the carrier of c.688G > A (p.Glu230Lys mutation and his mother was the carrier of c.968C > A (p.Pro323Gln and c.976G > A (p.Gly326Asp mutation. According to the standard of American College of Medical Genetics and Genomics (ACMG, c.461G > A (p.Arg154His and c.794T > G (p.Phe265Cys in Case 1, and c.703C > T (p.Arg235Cys in Case 2 were considered as "likely pathogenic", while FA2H gene compound heterozygous mutation c.688G > A (p.Glu230Lys, insertion mutation c.172_173insGGGCCAGGAC (p.Ile58ArgfsX47 in Case 3 was as "pathogenic", and in Case 4, the FA2H gene mutation c.688G > A (p.Glu230Lys and c.968C > A (p.Pro323Gln were "pathogenic" and c.976G > A (p.Gly326Asp was "likely pathogenic".  Conclusions FAHN has highly clinical and genetic

  11. Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports.

    Science.gov (United States)

    Kothari, Cartik; Wack, Maxime; Hassen-Khodja, Claire; Finan, Sean; Savova, Guergana; O'Boyle, Megan; Bliss, Geraldine; Cornell, Andria; Horn, Elizabeth J; Davis, Rebecca; Jacobs, Jacquelyn; Kohane, Isaac; Avillach, Paul

    2017-09-01

    The heterogeneity of patient phenotype data are an impediment to the research into the origins and progression of neuropsychiatric disorders. This difficulty is compounded in the case of rare disorders such as Phelan-McDermid Syndrome (PMS) by the paucity of patient clinical data. PMS is a rare syndromic genetic cause of autism and intellectual deficiency. In this paper, we describe the Phelan-McDermid Syndrome Data Network (PMS_DN), a platform that facilitates research into phenotype-genotype correlation and progression of PMS by: a) integrating knowledge of patient phenotypes extracted from Patient Reported Outcomes (PRO) data and clinical notes-two heterogeneous, underutilized sources of knowledge about patient phenotypes-with curated genetic information from the same patient cohort and b) making this integrated knowledge, along with a suite of statistical tools, available free of charge to authorized investigators on a Web portal https://pmsdn.hms.harvard.edu. PMS_DN is a Patient Centric Outcomes Research Initiative (PCORI) where patients and their families are involved in all aspects of the management of patient data in driving research into PMS. To foster collaborative research, PMS_DN also makes patient aggregates from this knowledge available to authorized investigators using distributed research networks such as the PCORnet PopMedNet. PMS_DN is hosted on a scalable cloud based environment and complies with all patient data privacy regulations. As of October 31, 2016, PMS_DN integrates high-quality knowledge extracted from the clinical notes of 112 patients and curated genetic reports of 176 patients with preprocessed PRO data from 415 patients. © 2017 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc.

  12. Clinical application of antenatal genetic diagnosis of osteogenesis imperfecta type IV.

    Science.gov (United States)

    Yuan, Jing; Li, Song; Xu, YeYe; Cong, Lin

    2015-04-02

    Clinical analysis and genetic testing of a family with osteogenesis imperfecta type IV were conducted, aiming to discuss antenatal genetic diagnosis of osteogenesis imperfecta type IV. Preliminary genotyping was performed based on clinical characteristics of the family members and then high-throughput sequencing was applied to rapidly and accurately detect the changes in candidate genes. Genetic testing of the III5 fetus and other family members revealed missense mutation in c.2746G>A, pGly916Arg in COL1A2 gene coding region and missense and synonymous mutation in COL1A1 gene coding region. Application of antenatal genetic diagnosis provides fast and accurate genetic counseling and eugenics suggestions for patients with osteogenesis imperfecta type IV and their families.

  13. Medical students, clinical preventive services, and shared decision-making.

    Science.gov (United States)

    Keefe, Carole W; Thompson, Margaret E; Noel, Mary Margaret

    2002-11-01

    Improving access to preventive care requires addressing patient, provider, and systems barriers. Patients often lack knowledge or are skeptical about the importance of prevention. Physicians feel that they have too little time, are not trained to deliver preventive services, and are concerned about the effectiveness of prevention. We have implemented an educational module in the required family practice clerkship (1) to enhance medical student learning about common clinical preventive services and (2) to teach students how to inform and involve patients in shared decision making about those services. Students are asked to examine available evidence-based information for preventive screening services. They are encouraged to look at the recommendations of various organizations and use such resources as reports from the U.S. Preventive Services Task Force to determine recommendations they want to be knowledgeable about in talking with their patients. For learning shared decision making, students are trained to use a model adapted from Braddock and colleagues(1) to discuss specific screening services and to engage patients in the process of making informed decisions about what is best for their own health. The shared decision making is presented and modeled by faculty, discussed in small groups, and students practice using Web-based cases and simulations. The students are evaluated using formative and summative performance-based assessments as they interact with simulated patients about (1) screening for high blood cholesterol and other lipid abnormalities, (2) screening for colorectal cancer, (3) screening for prostate cancer, and (4) screening for breast cancer. The final student evaluation is a ten-minute, videotaped discussion with a simulated patient about screening for colorectal cancer that is graded against a checklist that focuses primarily on the elements of shared decision making. Our medical students appear quite willing to accept shared decision making as

  14. 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...

  15. 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?

  16. 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.

  17. 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

  18. Reversibility of ventricular dysfunction: clinical experience in a medical office

    Directory of Open Access Journals (Sweden)

    Antonio Carlos Pereira Barretto

    2001-12-01

    Full Text Available OBJECTIVE - To describe clinical observations of marked improvement in ventricular dysfunction in a medical office environment under circumstances differing from those in study protocols and multicenter studies performed in hospital or with outpatient cohorts. METHODS - Eleven cardiac failure patients with marked ventricular dysfunction receiving treatment at a doctors office between 1994 and 1999 were studied. Their ages ranged from 20 and 66 years (mean 39.42±14.05 years; 7 patients were men, 4 were women. Cardiopathic etiologies were arterial hypertension in 5 patients, peripartum cardiomyopathy in 2, nondefined myocarditis in 2, and alcoholic cardiomyopathy in 4. Initial echocardiograms revealed left ventricular dilatation (average diastolic diameter, 69.45±8.15mm, reduced left ventricular ejection fraction (0.38±0.08 and left atrial dilatation (43.36±5.16mm. The therapeutic approach followed consisted of patient orientation, elimination of etiological or causal factors of cardiac failure, and prescription of digitalis, diuretics, and angiotensinconverting enzyme inhibitors. RESULTS - Following treatment, left ventricular ejection fraction changed to 0.63±0.09; left ventricular diameters changed to 57.18±8.13mm, and left atrium diameters changed to 37.27±8.05mm. Maximum improvement was noted after 16.9±8.63 (6 to 36 months. CONCLUSION - Patients with serious cardiac failure and ventricular dysfunction caused by hypertension, alcoholism, or myocarditis can experience marked improvement in ventricular dysfunction after undergoing appropriate therapy within the venue of the doctor's office.

  19. Meier-Gorlin syndrome Clinical genetics and genomics

    NARCIS (Netherlands)

    De Munnik, Sonja A.; Hoefsloot, Elisabeth H.; Roukema, Jolt; Schoots, Jeroen; Knoers, Nine Vam; Brunner, Han G.; Jackson, Andrew P.; Bongers, Ernie Mhf

    2015-01-01

    Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females

  20. Meier-Gorlin syndrome Clinical genetics and genomics

    NARCIS (Netherlands)

    S. de Munnik (Sonja); E.H. Hoefsloot (Lies); J. Roukema (Jolt); J. Schoots (Jeroen); N.V.A.M. Knoers (Nine); H.G. Brunner; A.P. Jackson (Andrew); E. Bongers (Ernie)

    2015-01-01

    textabstractMeier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia

  1. Unraveling Brazilian Indian population prostate good health: clinical, anthropometric and genetic features

    Directory of Open Access Journals (Sweden)

    Mario M. de Lima Junior

    2015-04-01

    Full Text Available Purpose To compare dietary, lifestyle, clinical, anthropometric, genetic and prostatic features of Brazilian Indians and non-Indians (Amazon. Methods 315 men, 228 Indians and 89 non-Indians, ≥40 years old were submitted to digital rectal examination, serum prostate specific antigen (PSA, testosterone, TP53 and GSTP1 genotyping, anthropometric, lifestyle, dietary, personal and familial medical history. Prostatic symptoms were evaluated with the International Prostate Symptom Score (IPSS. Results Macuxis and Yanomamis represented 43.6% and 14.5% of Indians respectively who spontaneously referred no prostate symptoms. Mean IPSS was 7, range 3-19, with only 15% of moderate symptoms (score 8-19; Mean age was 54.7 years, waist circumference 86.6 cm, BMI 23.9 kg/m2. Yanomamis presented both lower BMI (21.4 versus 24.8 and 23.3, p=0,001 and prostate volume than Macuxis and “other ethnic groups” (15 versus 20, p=0.001. Testosterone (414 versus 502 and 512, p=0.207 and PSA (0.48 versus 0.6 and 0.41, p=0.349 were similar with progressive PSA increase with aging. Val/Val correlated with lower PSA (p=0.0361. Indians compared to control population presented: - TP53 super representation of Arg/Arg haplotype, 74.5% versus 42.5%, p<0.0001. -GSTP1 Ile/Ile 35.3% versus 60.9%; Ile/Val 45.9% versus 28.7%; Val/Val 18.8% versus 10.3%; p=0.0003. Conclusions Observed specific dietary, lifestyle, anthropometric and genetic profile for TP53 and GSTP1 may contribute to Brazilian Indian population prostate good health.

  2. Unraveling Brazilian Indian population prostate good health: clinical, anthropometric and genetic features

    Science.gov (United States)

    de Lima, Mario M.; Reis, Leonardo O.; Ferreira, Ubirajara; Cardoso, Ulieme Oliveira; Barbieri, Raquel Bueno; de Mendonça, Gustavo B.; Ward, Laura S.

    2015-01-01

    Purpose To compare dietary, lifestyle, clinical, anthropometric, genetic and prostatic features of Brazilian Indians and non-Indians (Amazon). Methods 315 men, 228 Indians and 89 non-Indians, ≥40 years old were submitted to digital rectal examination, serum prostate specific antigen (PSA), testosterone, TP53 and GSTP1 genotyping, anthropometric, lifestyle, dietary, personal and familial medical history. Prostatic symptoms were evaluated with the International Prostate Symptom Score (IPSS). Results Macuxis and Yanomamis represented 43.6% and 14.5% of Indians respectively who spontaneously referred no prostate symptoms. Mean IPSS was 7, range 3-19, with only 15% of moderate symptoms (score 8-19); Mean age was 54.7 years, waist circumference 86.6 cm, BMI 23.9 kg/m2. Yanomamis presented both lower BMI (21.4 versus 24.8 and 23.3, p=0,001) and prostate volume than Macuxis and “other ethnic groups” (15 versus 20, p=0.001). Testosterone (414 versus 502 and 512, p=0.207) and PSA (0.48 versus 0.6 and 0.41, p=0.349) were similar with progressive PSA increase with aging. Val/Val correlated with lower PSA (p=0.0361). Indians compared to control population presented: - TP53 super representation of Arg/Arg haplotype, 74.5% versus 42.5%, p<0.0001. -GSTP1 Ile/Ile 35.3% versus 60.9%; Ile/Val 45.9% versus 28.7%; Val/Val 18.8% versus 10.3%; p=0.0003. Conclusions Observed specific dietary, lifestyle, anthropometric and genetic profile for TP53 and GSTP1 may contribute to Brazilian Indian population prostate good health. PMID:26005978

  3. Pattern of Clinical Medication Seeking for Import Malaria by Migrant Workers

    Directory of Open Access Journals (Sweden)

    Muhammad Mahmudi

    2015-05-01

    Full Text Available Number of malaria cases in Kabupaten Trenggalek in 2014 is 89 cases, and 83 cases are import malaria from migrant workers. Import malaria is transmitted across two areas and affects the clinical medication seeking. This research wants to describe the pattern of clinical medication seeking for import malaria by migrant workers in Puskesmas Pandean working area. This was cross sectional study with descriptive quantitative approach. Research’s sample is 26 import malaria sufferers in 2013–2015 who has chosen purposively with inclusion criteria. Interview had used to get information about characteristics, place felt the symptom, first clinical medication seeking (place and time, clinical diagnosis, medication follow up, and recovery status. The result of the research shows 100% respondent is man and the age about 20-30 years old (53,8 who is working as agricultural laborers outside Java. Mostly of respondent feel the malaria symptoms in their working place (53,8%. The day seeks clinical medication at day three after symptom (34, 6%. Respondents that feel the symptom in Puskesmas Pandean working area chose Puskesmas as clinical medication place (42,3%, and hospital (19,2% for them whose experience the malaria symptom in their working area. Puskesmas is chosen as clinical diagnosis place (69% and only 11,5% respondent got medication follow up. Puskesmas is chosen as intermediate clinical medication place (60% for 19,2% respondent that is not recovered well, although 20% go to Dukun. All of respondent chose the clinical medication as their prime medication. Need to make medication follow up visitation well complete. Keyword: pattern, clinical medication, import malaria, migrant worker

  4. Roles and Responsibilities, and Education and Training Requirements for Clinically Qualified Medical Physicists (Russian Edition)

    International Nuclear Information System (INIS)

    2014-01-01

    This publication addresses the shortfall of well trained and clinically qualified medical physicists working in radiation medicine. The roles, responsibilities and clinical training requirements of medical physicists have not always been well defined or well understood by health care professionals, health authorities and regulatory agencies. To fill this gap, this publication provides recommendations for the academic education and clinical training of clinically qualified medical physicists, including recommendations for their accreditation certification and registration, along with continuous professional development. The goal is to establish criteria that support the harmonization of education and clinical training worldwide

  5. Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone-Rod Dystrophy

    NARCIS (Netherlands)

    Thiadens, Alberta A. H. J.; Phan, T. My Lan; Zekveld-Vroon, Renate C.; Leroy, Bart P.; van den Born, L. Ingeborgh; Hoyng, Carel B.; Klaver, Caroline C. W.; Roosing, Susanne; Pott, Jan-Willem R.; van Schooneveld, Mary J.; van Moll-Ramirez, Norka; van Genderen, Maria M.; Boon, Camiel J. F.; den Hollander, Anneke I.; Bergen, Arthur A. B.; De Baere, Elfride; Cremers, Frans P. M.; Lotery, Andrew J.

    Objective: To evaluate the clinical course, genetic etiology, and visual prognosis in patients with cone dystrophy (CD) and cone-rod dystrophy (CRD). Design: Clinic-based, longitudinal, multicenter study. Participants: Consecutive probands with CD (N = 98), CRD (N = 83), and affected relatives (N =

  6. Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

    DEFF Research Database (Denmark)

    Semplicini, Claudio; Vissing, John; Dahlqvist, Julia R

    2015-01-01

    OBJECTIVE: To determine the clinical spectrum of limb-girdle muscular dystrophy 2E (LGMD2E) and to investigate whether genetic or biochemical features can predict the phenotype of the disease. METHODS: All LGMD2E patients followed in participating centers were included. A specific clinical protoc...

  7. [The clinical and molecular genetic characteristics of phenylketonuria patients in the Republic of Crimea].

    Science.gov (United States)

    Afanas'eva, N A; Bychkova, A M; Livshits, L A; Bariliak, I R

    1998-01-01

    The clinical and genetical characteristics of patients with phenylketonuria in the Crimean population is done in the present work. The comparison of clinical peculiarities of 28 patients, revealed by means of neonatal screening and that of 24 patients, the treatment of which was started late is presented. The prenatal diagnostics of 4 families with high phenylketonuria risk is conducted.

  8. Cost benefit analysis of the radiological shielding of medical cyclotrons using a genetic algorithm

    International Nuclear Information System (INIS)

    Mukherjee, Bhaskar

    2001-01-01

    Adequate radiation shielding is vital to the safe operation of modern commercial medical cyclotrons producing large yields of short-lived radioisotopes. The radiological shielding constitutes a significant capital investment for any new cyclotron-based radioisotope production facility; hence, the shielding design requires an accurate cost-benefit analysis often based on a complex multi-variant optimization technique. This paper demonstrates the application of a Genetic Algorithm (GA) for the optimum design of the high yield target cave of a Medical Cyclotron radioisotope production facility based in Sydney, Australia. The GA is a novel optimization technique that mimics the Darwinian Evolution paradigm and is ideally suited to search for global optima in a large multi-dimensional solution space

  9. Assessing clinical reasoning abilities of medical students using clinical performance examination

    Directory of Open Access Journals (Sweden)

    Sunju Im

    2016-03-01

    Full Text Available Purpose: The purpose of this study is to investigate the reliability and validity of new clinical performance examination (CPX for assessing clinical reasoning skills and evaluating clinical reasoning ability of the students. Methods: Third-year medical school students (n=313 in Busan-Gyeongnam consortium in 2014 were included in the study. One of 12 stations was developed to assess clinical reasoning abilities. The scenario and checklists of the station were revised by six experts. Chief complaint of the case was rhinorrhea, accompanied by fever, headache, and vomiting. Checklists focused on identifying of the main problem and systematic approach to the problem. Students interviewed the patient and recorded subjective and objective findings, assessments, plans (SOAP note for 15 minutes. Two professors assessed students simultaneously. We performed statistical analysis on their scores and survey. Results: The Cronbach α of subject station was 0.878 and Cohen κ coefficient between graders was 0.785. Students agreed on CPX as an adequate tool to evaluate students’ performance, but some graders argued that the CPX failed to secure its validity due to their lack of understanding the case. One hundred eight students (34.5% identified essential problem early and only 58 (18.5% performed systematic history taking and physical examination. One hundred seventy-three of them (55.3% communicated correct diagnosis with the patient. Most of them had trouble in writing SOAP notes. Conclusion: To gain reliability and validity, interrater agreement should be secured. Students' clinical reasoning skills were not enough. Students need to be trained on problem identification, reasoning skills and accurate record-keeping.

  10. Concerns about Genetic Testing for Schizophrenia among Young Adults at Clinical High Risk for Psychosis.

    Science.gov (United States)

    Lawrence, Ryan E; Friesen, Phoebe; Brucato, Gary; Girgis, Ragy R; Dixon, Lisa

    Genetic tests for schizophrenia may introduce risks and benefits. Among young adults at clinical high-risk for psychosis, little is known about their concerns and how they assess potential risks. We conducted semi-structured interviews with 15 young adults at clinical high-risk for psychosis to ask about their concerns. Participants expressed concerns about test reliability, data interpretation, stigma, psychological harm, family planning, and privacy. Participants' responses showed some departure from the ethics literature insofar as participants were primarily interested in reporting their results to people to whom they felt emotionally close, and expressed little consideration of biological closeness. Additionally, if tests showed an increased genetic risk for schizophrenia, four clinical high-risk persons felt obligated to tell an employer and another three would "maybe" tell an employer, even in the absence of clinical symptoms. These findings suggest opportunities for clinicians and genetic counselors to intervene with education and support.

  11. Genetic Stratification in Myeloid Diseases: From Risk Assessment to Clinical Decision Support Tool

    Directory of Open Access Journals (Sweden)

    Yishai Ofran

    2014-10-01

    Full Text Available Genetic aberrations have become a dominant factor in the stratification of myeloid malignancies. Cytogenetic and a few mutation studies are the backbone of risk assessment models of myeloid malignancies which are a major consideration in clinical decisions, especially patient assignment for allogeneic stem cell transplantation. Progress in our understanding of the genetic basis of the pathogenesis of myeloid malignancies and the growing capabilities of mass sequencing may add new roles for the clinical usage of genetic data. A few recently identified mutations recognized to be associated with specific diseases or clinical scenarios may soon become part of the diagnostic criteria of such conditions. Mutational studies may also advance our capabilities for a more efficient patient selection process, assigning the most effective therapy at the best timing for each patient. The clinical utility of genetic data is anticipated to advance further with the adoption of deep sequencing and next-generation sequencing techniques. We herein suggest some future potential applications of sequential genetic data to identify pending deteriorations at time points which are the best for aggressive interventions such as allogeneic stem cell transplantation. Genetics is moving from being mostly a prognostic factor to becoming a multitasking decision support tool for hematologists. Physicians must pay attention to advances in molecular hematology as it will soon be accessible and influential for most of our patients.

  12. The medical examination in United States immigration applications: the potential use of genetic testing leads to heightened privacy concerns.

    Science.gov (United States)

    Burroughs, A Maxwell

    2005-01-01

    The medical examination has been an integral part of the immigration application process since the passing of the Immigration Act of 1891. Failing the medical examination can result in denial of the application. Over the years the medical examination has been expanded to include questioning about diseases that are scientifically shown to be rooted in an individual's genetic makeup. Recent advances in the fields of genomics and bioinformatics are making accurate and precise screening for these conditions a reality. Government policymakers will soon be faced with decisions regarding whether or not to sanction the use of these newly-developed genetic tests in the immigration application procedure. The terror threat currently facing the United States may ultimately bolster the argument in favor of genetic testing and/or DNA collection of applicants. However, the possibility of a government mandate requiring genetic testing raises a host of ethical issues; including the threat of eugenics and privacy concerns. Genetic testing has the ability to uncover a wealth of sensitive medical information about an individual and currently there are no medical information privacy protections afforded to immigration applicants. This article examines the potential for genetic testing in the immigration application process and the ethical issues surrounding this testing. In particular, this article explores the existing framework of privacy protections afforded to individuals living in the United States and how this and newly-erected standards like those released by the Health and Human Services (HHS) might apply to individuals seeking to immigrate to the United States.

  13. GENetic and clinical Predictors Of treatment response in Depression: the GenPod randomised trial protocol

    Directory of Open Access Journals (Sweden)

    O'Donovan Michael

    2008-05-01

    Full Text Available Abstract Background The most effective pharmacological treatments for depression inhibit the transporters that reuptake serotonin (Selective Serotonin Reuptake Inhibitors – SSRIs and noradrenaline (Noradrenaline Reuptake Inhibitors – NaRIs into the presynaptic terminal. There is evidence to suggest that noradrenaline and serotonin enhancing drugs work through separate mechanisms to produce their clinical antidepressant action. Although most of the current evidence suggests there is little difference in overall efficacy between SSRIs and NaRIs, there are patients who respond to one class of compounds and not another. This suggests that treatment response could be predicted by genetic and/or clinical characteristics. Firstly, this study aims to investigate the influence of a polymorphism (SLC6A4 in the 5HT transporter in altering response to SSRI medication. Secondly, the study will investigate whether those with more severe depression have a better response to NaRIs than SSRIs. Methods/design The GenPod trial is a multi-centre randomised controlled trial. GPs referred patients aged between 18–74 years presenting with a new episode of depression, who did not have any medical contraindications to antidepressant medication and who had no history of psychosis or alcohol/substance abuse. Patients were interviewed to ascertain their suitability for the study. Eligible participants (with a primary diagnosis of depression according to ICD10 criteria and a Beck Depression Inventory (BDI score > 14 were randomised to receive one of two antidepressant treatments, either the SSRI Citalopram or the NaRI Reboxetine, stratified according to severity. The final number randomised to the trial was 601. Follow-up assessments took place at 2, 6 and 12 weeks following randomisation. Primary outcome was measured at 6 weeks by the BDI. Outcomes will be analysed on an intention-to-treat basis and will use multiple regression models to compare treatments

  14. Analysis of Factors that Predict Clinical Performance in Medical School

    Science.gov (United States)

    White, Casey B.; Dey, Eric L.; Fantone, Joseph C.

    2009-01-01

    Academic achievement indices including GPAs and MCAT scores are used to predict the spectrum of medical student academic performance types. However, use of these measures ignores two changes influencing medical school admissions: student diversity and affirmative action, and an increased focus on communication skills. To determine if GPA and MCAT…

  15. Awareness of family medicine discipline among clinical medical ...

    African Journals Online (AJOL)

    Introduction: Undergraduate medical education requires the studying of a wide range of medical specialties to produce the future workforce of the healthcare system. Family medicine (FM), a relatively new specialty in Nigeria, aims at supplying doctors capable of providing comprehensive healthcare for the majority of the ...

  16. Impact of medical microbiology : A clinical and financial analysis

    NARCIS (Netherlands)

    Dik, Jan-Willem

    2016-01-01

    To be able to provide cost-effective healthcare, it is important to evaluate the impact of interventions. This thesis looked at interventions performed by the Department of Medical Microbiology at the University Medical Center Groningen. This department plays an important role in infection

  17. Sexual harassment during clinical clerkships in Dutch medical schools

    NARCIS (Netherlands)

    Rademakers, J.J.D.J.M.; Muijsenbergh, M.E.T.C. van den; Slappendel, G.; Lagro-Janssen, A.L.M.; Borleffs, J.C.C.

    2008-01-01

    Context Sexual harassment of medical students has been the focus of many international studies. Prevalence rates from 18% to over 60% have been reported. However, a Dutch study at Nijmegen Medical School found the prevalence rate to be lower (13.3% in the total group; 20% among female students

  18. Sexual harassment during clinical clerkships in Dutch medical schools.

    NARCIS (Netherlands)

    Rademakers, J.J.D.J.M.; Muijsenbergh, M.E.T.C. van den; Slappendel, G.; Lagro-Janssen, A.L.M.; Borleffs, J.C.C.

    2008-01-01

    CONTEXT: Sexual harassment of medical students has been the focus of many international studies. Prevalence rates from 18% to over 60% have been reported. However, a Dutch study at Nijmegen Medical School found the prevalence rate to be lower (13.3% in the total group; 20% among female students

  19. Clinic Attendance for Medication Refills and Medication Adherence amongst an Antiretroviral Treatment Cohort in Uganda: A Prospective Study

    Directory of Open Access Journals (Sweden)

    Setor Kunutsor

    2010-01-01

    Full Text Available Background. Regular clinic attendance for antiretroviral (ARV drug refills is important for successful clinical outcomes in HIV management. Methods. Clinic attendance for ARV drug refills and medication adherence using a clinic-based pill count in 392 adult patients receiving antiretroviral therapy (ART in a district hospital in Uganda were prospectively monitored over a 28-week period. Results. Of the 2267 total scheduled clinic visits, 40 (1.8% were missed visits. Among the 392 clients, 361 (92% attended all appointments for their refills (regular attendance. Clinic attendance for refills was statistically significantly associated with medication adherence with regular attendant clients having about fourfold greater odds of achieving optimal (≥95% medication adherence [odds ratio (OR=3.89, 95% CI: 1.48 to 10.25, exact P=.013]. In multivariate analysis, clients in age category 35 years and below were less likely to achieve regular clinic attendance. Conclusion. Monitoring of clinic attendance may be an objective and effective measure and could be a useful adjunct to an adherence measure such as pill counting in resource-constrained settings. Where human resource constraints do not allow pill counts or other time-consuming measures, then monitoring clinic attendance and acting on missed appointments may be an effective proxy measure.

  20. Usher syndrome in Puerto Rico: a clinical and genetic study.

    Science.gov (United States)

    Colón-Casasnovas, Jaime E; Izquierdo, Natalio J; Millán, Jose M

    2010-01-01

    To evaluate patients with the Usher syn drome in Puerto Rico. Three patients with the Usher syndrome underwent an ophthalmic and audiologic evaluation; and genetic linkage analysis. All patients were legally blind based on visual acuity and visual field results. Two patients had macular edema as shown on Stratus OCT. All patients had moderate hearing loss as part of the syndrome. A patient, and two family members had three mutations leading to protein changes including: p.S4588Y; p.Y4505C; and p.14474M. Phenotypic findings in patients with the Usher syndrome in Puerto Rico are similar to those previously reported. However, to our knowledge, neither these mutations nor OCT findings have been previously described in patients with the syndrome.

  1. 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.

  2. An International Basic Science and Clinical Research Summer Program for Medical Students

    Science.gov (United States)

    Ramjiawan, Bram; Pierce, Grant N.; Anindo, Mohammad Iffat Kabir; AlKukhun, Abedalrazaq; Alshammari, Abdullah; Chamsi, Ahmad Talal; Abousaleh, Mohannad; Alkhani, Anas; Ganguly, Pallab K.

    2012-01-01

    An important part of training the next generation of physicians is ensuring that they are exposed to the integral role that research plays in improving medical treatment. However, medical students often do not have sufficient time to be trained to carry out any projects in biomedical and clinical research. Many medical students also fail to…

  3. Clinical relevance of and risk factors associated with medication administration time errors

    NARCIS (Netherlands)

    Teunissen, R.; Bos, J.; Pot, H.; Pluim, M.; Kramers, C.

    2013-01-01

    PURPOSE: The clinical relevance of and risk factors associated with errors related to medication administration time were studied. METHODS: In this explorative study, 66 medication administration rounds were studied on two wards (surgery and neurology) of a hospital. Data on medication errors were

  4. Integration of Medical Imaging Including Ultrasound into a New Clinical Anatomy Curriculum

    Science.gov (United States)

    Moscova, Michelle; Bryce, Deborah A.; Sindhusake, Doungkamol; Young, Noel

    2015-01-01

    In 2008 a new clinical anatomy curriculum with integrated medical imaging component was introduced into the University of Sydney Medical Program. Medical imaging used for teaching the new curriculum included normal radiography, MRI, CT scans, and ultrasound imaging. These techniques were incorporated into teaching over the first two years of the…

  5. Combined treatment with octreotide LAR and pegvisomant in patients with pituitary gigantism: clinical evaluation and genetic screening.

    Science.gov (United States)

    Mangupli, Ruth; Rostomyan, Liliya; Castermans, Emilie; Caberg, Jean-Hubert; Camperos, Paul; Krivoy, Jaime; Cuauro, Elvia; Bours, Vincent; Daly, Adrian F; Beckers, Albert

    2016-10-01

    Pituitary gigantism is a rare condition caused by growth hormone secreting hypersecretion, usually by a pituitary tumor. Acromegaly and gigantism cases that have a genetic cause are challenging to treat, due to large tumor size and poor responses to some medical therapies (e.g. AIP mutation affected cases and those with X-linked acrogigantism syndrome). We performed a retrospective study to identify gigantism cases among 160 somatotropinoma patients treated between 1985 and 2015 at the University Hospital of Caracas, Venezuela. We studied clinical details at diagnosis, hormonal responses to therapy and undertook targeted genetic testing. Among the 160 cases, eight patients (six males; 75 %) were diagnosed with pituitary gigantism and underwent genetic analysis that included array comparative genome hybridization for Xq26.3 duplications. All patients had GH secreting pituitary macroadenomas that were difficult to control with conventional treatment options, such as surgery or primary somatostatin receptor ligand (SRL) therapy. Combined therapy (long-acting SRL and pegvisomant) as primary treatment or after pituitary surgery and radiotherapy permitted the normalization of IGF-1 levels and clinical improvement. Novel AIP mutations were the found in three patients. None of the patients had Xq26.3 microduplications. Treatment of pituitary gigantism is frequently challenging; delayed control increases the harmful effects of GH excess, such as, excessive stature and symptom burden, so early diagnosis and effective treatment are particularly important in these cases.

  6. Mouse genetic model for clinical and immunological heterogeneity of leishmaniasis

    Czech Academy of Sciences Publication Activity Database

    Lipoldová, Marie; Svobodová, M.; Havelková, Helena; Krulová, Magdalena; Badalová, Jana; Nohýnková, E.; Hart, A. A. M.; Schlegel, David; Volf, P.; Demant, P.

    2002-01-01

    Roč. 54, č. 3 (2002), s. 174-183 ISSN 0093-7711 R&D Projects: GA MZd NM28; GA ČR GA310/00/0760; GA MŠk OK 394 Grant - others:Howard Hughes Medical Institute(US) HHMI55000323; WHO(XX) TDR I.D. 970772; EC(XE) ERBI-C15-CT98-0317; EC(XE) BIO-4-CT98-0445 Institutional research plan: CEZ:AV0Z5052915 Keywords : Leishmaniasis * mouse model * complex disease Subject RIV: EC - Immunology Impact factor: 2.475, year: 2002

  7. Clinical verification of genetic results returned to research participants: findings from a Colon Cancer Family Registry.

    Science.gov (United States)

    Laurino, Mercy Y; Truitt, Anjali R; Tenney, Lederle; Fisher, Douglass; Lindor, Noralane M; Veenstra, David; Jarvik, Gail P; Newcomb, Polly A; Fullerton, Stephanie M

    2017-11-01

    The extent to which participants act to clinically verify research results is largely unknown. This study examined whether participants who received Lynch syndrome (LS)-related findings pursued researchers' recommendation to clinically verify results with testing performed by a CLIA-certified laboratory. The Fred Hutchinson Cancer Research Center site of the multinational Colon Cancer Family Registry offered non-CLIA individual genetic research results to select registry participants (cases and their enrolled relatives) from 2011 to 2013. Participants who elected to receive results were counseled on the importance of verifying results at a CLIA-certified laboratory. Twenty-six (76.5%) of the 34 participants who received genetic results completed 2- and 12-month postdisclosure surveys; 42.3% of these (11/26) participated in a semistructured follow-up interview. Within 12 months of result disclosure, only 4 (15.4%) of 26 participants reported having verified their results in a CLIA-certified laboratory; of these four cases, all research and clinical results were concordant. Reasons for pursuing clinical verification included acting on the recommendation of the research team and informing future clinical care. Those who did not verify results cited lack of insurance coverage and limited perceived personal benefit of clinical verification as reasons for inaction. These findings suggest researchers will need to address barriers to seeking clinical verification in order to ensure that the intended benefits of returning genetic research results are realized. © 2017 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

  8. Facial emotion perception differs in young persons at genetic and clinical high-risk for psychosis.

    Science.gov (United States)

    Kohler, Christian G; Richard, Jan A; Brensinger, Colleen M; Borgmann-Winter, Karin E; Conroy, Catherine G; Moberg, Paul J; Gur, Ruben C; Gur, Raquel E; Calkins, Monica E

    2014-05-15

    A large body of literature has documented facial emotion perception impairments in schizophrenia. More recently, emotion perception has been investigated in persons at genetic and clinical high-risk for psychosis. This study compared emotion perception abilities in groups of young persons with schizophrenia, clinical high-risk, genetic risk and healthy controls. Groups, ages 13-25, included 24 persons at clinical high-risk, 52 first-degree relatives at genetic risk, 91 persons with schizophrenia and 90 low risk persons who completed computerized testing of emotion recognition and differentiation. Groups differed by overall emotion recognition abilities and recognition of happy, sad, anger and fear expressions. Pairwise comparisons revealed comparable impairments in recognition of happy, angry, and fearful expressions for persons at clinical high-risk and schizophrenia, while genetic risk participants were less impaired, showing reduced recognition of fearful expressions. Groups also differed for differentiation of happy and sad expressions, but differences were mainly between schizophrenia and control groups. Emotion perception impairments are observable in young persons at-risk for psychosis. Preliminary results with clinical high-risk participants, when considered along findings in genetic risk relatives, suggest social cognition abilities to reflect pathophysiological processes involved in risk of schizophrenia. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  9. Clinical findings and genetic screening for copy number variation ...

    African Journals Online (AJOL)

    All black African patients with PD from a tertiary hospital neurology clinic were examined. Symptoms were scored according to the Unified Parkinson's Disease Rating Scale (UPDRS), and patients were classified according to motor features. Genomic DNA was extracted and multiplex ligation-dependent probe amplification ...

  10. Clinical neuro-oncology formal education opportunities for medical students in the United States and Canada.

    Science.gov (United States)

    Dixit, Karan S; Nicholas, Martin Kelly; Lukas, Rimas V

    2014-12-01

    To develop an understanding of the availability of the formal clinical neuro-oncology educational opportunities for medical students. The curriculum websites of all medical schools accredited by the Liaison Committee on Medical Education were reviewed for the presence of clinical neuro-oncology electives as well as other relevant data. Ten (6.8%) of medical schools accredited by the Liaison Committee on Medical Education offer formal neuro-oncology electives. Half are clustered in the Midwest. Forty percent are at institutions with neuro-oncology fellowships. All are at institutions with neurosurgery and neurology residency programs. Formal clinical neuro-oncology elective opportunities for medical students in the United States and Canada are limited. Additional such opportunities may be of value in the education of medical students. Copyright © 2014 Elsevier Inc. All rights reserved.

  11. The various aspects of genetic and epigenetic toxicology: testing methods and clinical applications.

    Science.gov (United States)

    Ren, Ning; Atyah, Manar; Chen, Wan-Yong; Zhou, Chen-Hao

    2017-05-22

    Genotoxicity refers to the ability of harmful substances to damage genetic information in cells. Being exposed to chemical and biological agents can result in genomic instabilities and/or epigenetic alterations, which translate into a variety of diseases, cancer included. This concise review discusses, from both a genetic and epigenetic point of view, the current detection methods of different agents' genotoxicity, along with their basic and clinical relation to human cancer, chemotherapy, germ cells and stem cells.

  12. Merits and pitfalls of genetic testing in a hypertrophic cardiomyopathy clinic.

    Science.gov (United States)

    Arad, Michael; Monserrat, Lorenzo; Haron-Khun, Shiraz; Seidman, Jonathan G; Seidman, Christine E; Arbustini, Eloisa; Glikson, Michael; Freimark, Dov

    2014-11-01

    Hypertrophic cardiomyopathy (HCM) is a familial disease with autosomal dominant inheritance and age-dependent penetrance, caused primarily by mutations of sarcomere genes. Because the clinical variability of HCM is related to its genetic heterogeneity, genetic studies may improve the diagnosis and prognostic evaluation in HCM. To analyze the impact of genetic diagnosis on the clinical management of HCM. Genetic studies were performed for either research or clinical reasons. Once the disease-causing mutation was identified, the management plan was reevaluated. Family members were invited to receive genetic counseling and encouraged to be tested for the mutation. Ten mutations in sarcomere protein genes were identified in 9 probands: 2 novel and 8 previously described. Advanced heart failure or sudden death in a young person prompted the genetic study in 8 of the 9 families. Of 98 relatives available for genotyping, only 53 (54%) agreed to be tested. The compliance was higher in families with sudden death and lower in what appeared to be sporadic HCM or elderly-onset disease. Among the healthy we identified 9 carriers and 19 non-carriers. In 6 individuals the test result resolved an uncertainty about "possible HCM." In several cases the genetic result was also used for family planning and played a role in decisions on cardioverter-defibrillator implantation. Recurrence of a same mutation in different families created an opportunity to apply the information from the literature for risk stratification of individual patients. We suggest that the clinical context determines the indication for genetic testing and interpretation of the results.

  13. Comprehensive Clinical Phenotyping and Genetic Mapping for the Discovery of Autism Susceptibility Genes

    Science.gov (United States)

    2013-03-14

    behavioral teaching strategies and best practice for teaching students with autism spectrum disorders 4.52 Learn strategies for incorporating IEP goals...AFRL-SA-WP-TR-2013-0013 Comprehensive Clinical Phenotyping and Genetic Mapping for the Discovery of Autism Susceptibility Genes...Genetic Mapping for the Discovery of Autism Susceptibility Genes 5a. CONTRACT NUMBER N/A 5b. GRANT NUMBER N/A 5c. PROGRAM ELEMENT NUMBER N/A 6

  14. Medical subdomain classification of clinical notes using a machine learning-based natural language processing approach

    OpenAIRE

    Weng, Wei-Hung; Wagholikar, Kavishwar B.; McCray, Alexa T.; Szolovits, Peter; Chueh, Henry C.

    2017-01-01

    Background The medical subdomain of a clinical note, such as cardiology or neurology, is useful content-derived metadata for developing machine learning downstream applications. To classify the medical subdomain of a note accurately, we have constructed a machine learning-based natural language processing (NLP) pipeline and developed medical subdomain classifiers based on the content of the note. Methods We constructed the pipeline using the clinical ...

  15. Choice of Specialization among Female Clinical Medical Students of ...

    African Journals Online (AJOL)

    2017-07-24

    Jul 24, 2017 ... numerous fields and super-specialization in various ever increasing branches .... Which of the following best describes the area you grew-up till adolescent? Large .... study conducted on career intentions of final year medical ...

  16. The Effect of Clinical Psychiatric Training on Medical Students' Belief ...

    African Journals Online (AJOL)

    femi oloka

    ... +2348072243922. Medical. Students,. Psychiatric training,. Attitude,. Stigma,. Mental illness. ... ill lead to strained social interaction, low self-esteem, loss of employment and ... seeking help and result in compromised care. The importance of ...

  17. Clinical Practice Guideline: Safe Medication Use in the ICU.

    Science.gov (United States)

    Kane-Gill, Sandra L; Dasta, Joseph F; Buckley, Mitchell S; Devabhakthuni, Sandeep; Liu, Michael; Cohen, Henry; George, Elisabeth L; Pohlman, Anne S; Agarwal, Swati; Henneman, Elizabeth A; Bejian, Sharon M; Berenholtz, Sean M; Pepin, Jodie L; Scanlon, Mathew C; Smith, Brian S

    2017-09-01

    To provide ICU clinicians with evidence-based guidance on safe medication use practices for the critically ill. PubMed, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, CINAHL, Scopus, and ISI Web of Science for relevant material to December 2015. Based on three key components: 1) environment and patients, 2) the medication use process, and 3) the patient safety surveillance system. The committee collectively developed Population, Intervention, Comparator, Outcome questions and quality of evidence statements pertaining to medication errors and adverse drug events addressing the key components. A total of 34 Population, Intervention, Comparator, Outcome questions, five quality of evidence statements, and one commentary on disclosure was developed. Subcommittee members were assigned selected Population, Intervention, Comparator, Outcome questions or quality of evidence statements. Subcommittee members completed their Grading of Recommendations Assessment, Development, and Evaluation of the question with his/her quality of evidence assessment and proposed strength of recommendation, then the draft was reviewed by the relevant subcommittee. The subcommittee collectively reviewed the evidence profiles for each question they developed. After the draft was discussed and approved by the entire committee, then the document was circulated among all members for voting on the quality of evidence and strength of recommendation. The committee followed the principles of the Grading of Recommendations Assessment, Development, and Evaluation system to determine quality of evidence and strength of recommendations. This guideline evaluates the ICU environment as a risk for medication-related events and the environmental changes that are possible to improve safe medication use. Prevention strategies for medication-related events are reviewed by medication use process node (prescribing, distribution, administration, monitoring). Detailed

  18. Meier-Gorlin syndrome Clinical genetics and genomics

    OpenAIRE

    Munnik, Sonja; Hoefsloot, Lies; Roukema, Jolt; Schoots, Jeroen; Knoers, Nine; Brunner, H.G.; Jackson, Andrew; Bongers, Ernie

    2015-01-01

    textabstractMeier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical facial characteristics during childhood comprise a small mouth with full lips and micro-...

  19. Connection between Genetic and Clinical Data in Bipolar Disorder

    DEFF Research Database (Denmark)

    Mellerup, Erling; Andreassen, Ole; Bennike, Bente

    2012-01-01

    Complex diseases may be associated with combinations of changes in DNA, where the single change has little impact alone. In a previous study of patients with bipolar disorder and controls combinations of SNP genotypes were analyzed, and four large clusters of combinations were found to be signifi...... to be significantly associated with bipolar disorder. It has now been found that these clusters may be connected to clinical data....

  20. Medical Physics: Forming and testing solutions to clinical problems.

    Science.gov (United States)

    Tsapaki, Virginia; Bayford, Richard

    2015-11-01

    According to the European Federation of Organizations for Medical Physics (EFOMP) policy statement No. 13, "The rapid advance in the use of highly sophisticated equipment and procedures in the medical field increasingly depends on information and communication technology. In spite of the fact that the safety and quality of such technology is vigorously tested before it is placed on the market, it often turns out that the safety and quality is not sufficient when used under hospital working conditions. To improve safety and quality for patient and users, additional safeguards and related monitoring, as well as measures to enhance quality, are required. Furthermore a large number of accidents and incidents happen every year in hospitals and as a consequence a number of patients die or are injured. Medical Physicists are well positioned to contribute towards preventing these kinds of events". The newest developments related to this increasingly important medical speciality were presented during the 8th European Conference of Medical Physics 2014 which was held in Athens, 11-13 September 2014 and hosted by the Hellenic Association of Medical Physicists (HAMP) in collaboration with the EFOMP and are summarized in this issue. Copyright © 2015 Associazione Italiana di Fisica Medica. Published by Elsevier Ltd. All rights reserved.

  1. Using Technology, Clinical Workflow Redesign, and Team Solutions to Achieve the Patient Centered Medical Home

    Science.gov (United States)

    2011-01-01

    Redesign, and Team Solutions to Achieve the Patient Centered Medical Home LTC Nicole Kerkenbush, MHA, MN Army Medical Department, Office of the...TITLE AND SUBTITLE Using Technology, Clinical Workflow Redesign, and Team Solutions to Achieve the Patient Centered Medical Home 5a. CONTRACT...Describe how these tools are being used to implement the Patient Centered Medical Home care model 2 2011 MHS Conference MEDCOM AHLTA Provider Satisfaction

  2. C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases

    Directory of Open Access Journals (Sweden)

    Paulo Victor Sgobbi de Souza

    2015-03-01

    Full Text Available Neurodegenerative diseases represent a heterogeneous group of neurological conditions primarily involving dementia, motor neuron disease and movement disorders. They are mostly related to different pathophysiological processes, notably in family forms in which the clinical and genetic heterogeneity are lush. In the last decade, much knowledge has been acumulated about the genetics of neurodegenerative diseases, making it essential in cases of motor neuron disease and frontotemporal dementia the repeat expansions of C9orf72 gene. This review analyzes the main clinical, radiological and genetic aspects of the phenotypes related to the hexanucleotide repeat expansions (GGGGCC of C9orf72 gene. Future studies will aim to further characterize the neuropsychological, imaging and pathological aspects of the extra-motor features of motor neuron disease, and will help to provide a new classification system that is both clinically and biologically relevant.

  3. Instruction in medical ethics during clinical training for medical students. Report on experience in radio-oncology

    International Nuclear Information System (INIS)

    Schaefer, C.; Lenk, C.; Koelbl, O.

    2006-01-01

    The article gives a review of the current state of education in medical ethics in Germany. The issue is considered from the viewpoint of radio-oncology. Both the pertinent literature and our own experience in teaching medical ethics are presented. In October 2003, medical ethics was integrated into the curriculum of medicine. The aim was to train competence in the field of personal attitudes and to intensify skills of moral reasoning. Our own experiences are positive, which is in accordance with the reports of other working groups. Most of the students were interested in education in medical ethics and looked upon ethical training as being an important part of their studies. Medical students are interested in ethical education during the clinical period of their studies, which has been taken into account since the actual change of the curriculum. Radio-oncologists as specialists in other clinical fields can offer important contributions when they discuss clinical cases from the viewpoint of medical ethics. The long-term effect of such an education will become the subject of future research. (orig.) [de

  4. A Semantic Web-based System for Mining Genetic Mutations in Cancer Clinical Trials.

    Science.gov (United States)

    Priya, Sambhawa; Jiang, Guoqian; Dasari, Surendra; Zimmermann, Michael T; Wang, Chen; Heflin, Jeff; Chute, Christopher G

    2015-01-01

    Textual eligibility criteria in clinical trial protocols contain important information about potential clinically relevant pharmacogenomic events. Manual curation for harvesting this evidence is intractable as it is error prone and time consuming. In this paper, we develop and evaluate a Semantic Web-based system that captures and manages mutation evidences and related contextual information from cancer clinical trials. The system has 2 main components: an NLP-based annotator and a Semantic Web ontology-based annotation manager. We evaluated the performance of the annotator in terms of precision and recall. We demonstrated the usefulness of the system by conducting case studies in retrieving relevant clinical trials using a collection of mutations identified from TCGA Leukemia patients and Atlas of Genetics and Cytogenetics in Oncology and Haematology. In conclusion, our system using Semantic Web technologies provides an effective framework for extraction, annotation, standardization and management of genetic mutations in cancer clinical trials.

  5. [Long QT syndrome. History, genetics, clinical symptoms, causes and therapy].

    Science.gov (United States)

    Krönauer, T; Friederich, P

    2015-08-01

    The long QT syndrome is caused by a change in cardiac repolarization due to functional ion channel defects. A differentiation is made between a congenital (cLQTS) and an acquired (aLQTS) form of the disease. The disease results in the name-giving prolongation of the QT interval in the electrocardiogram and represents a predisposition for cardiac arrhythmia and sudden cardiac death. This article summarizes the current knowledge on the history, pathophysiology, clinical symptoms and therapy of cLQTS and aLQTS. This knowledge of pathophysiological features of the symptoms allows the underlying anesthesiological approach for individualized perioperative concepts for patients suffering from LQTS to be derived.

  6. Advancing Medication Reconciliation in an Outpatient Internal Medicine Clinic through a Pharmacist-Led Educational Initiative

    Directory of Open Access Journals (Sweden)

    Sarah M. Westberg

    2010-06-01

    Full Text Available Objectives: To develop and deliver an effective pharmacist-led educational initiative to clinic staff to advance medication reconciliation in the electronic medical record of an outpatient internal medicine clinic. Methods: An educational initiative designed to improve the ability of nursing staff in medication reconciliation was launched in the outpatient internal medicine clinic of a regional healthcare system. The education was provided by the pharmacist to clinic nursing staff, including registered nurses, licensed practical nurses, and certified medical assistants. The impact of this training was measured through pre-initiation and post-implementation surveys, competency assessments and an audit. Results: The educational initiative was successfully designed and delivered to clinic nursing staff. Assessment of the initiative found that all nursing staff completing competency assessments successfully passed. Pre-initiation- and post-implementation- survey responses on the self-assessed ability to gather and document accurate medication lists did not show significant changes. Informal observations in the clinic indicated that this initiative changed the culture of the clinic, creating increased awareness of the importance of accurate medications and increased emphasis on medication reconciliation. Conclusions: The expertise of pharmacists can be utilized to educate nursing staff on the skills and abilities necessary to gather and document accurate medication lists. This study did not find measurable changes in the accuracy of medication lists in this clinic. Future research is needed to determine the best methods to train health professionals in medication reconciliation to ensure accurate medication lists in the outpatient setting. Type: Original Research

  7. Cost of a dedicated ART clinic | Harling | South African Medical ...

    African Journals Online (AJOL)

    Little evidence exists on the cost of running clinics for ART provision. Objectives. To determine the cost per patient-month enrolled in an ART programme and per patient-visit for a dedicated, public-sector ART clinic in a South African peri-urban setting in 2004/05 and 2005/06, as the clinic moved from a temporary to a ...

  8. Genetic and clinical characteristics of primary and secondary glioblastoma is associated with differential molecular subtype distribution

    OpenAIRE

    Li, Rui; Li, Hailin; Yan, Wei; Yang, Pei; Bao, Zhaoshi; Zhang, Chuanbao; Jiang, Tao; You, Yongping

    2015-01-01

    Glioblastoma multiforme (GBM) is classified into primary (pGBM) or secondary (sGBM) based on clinical progression. However, there are some limits to this classification for insight into genetically and clinically distinction between pGBM and sGBM. The aim of this study is to characterize pGBM and sGBM associating with differential molecular subtype distribution. Whole transcriptome sequencing data was used to assess the distribution of molecular subtypes and genetic alterations in 88 pGBM and...

  9. Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults.

    Science.gov (United States)

    Schneider, M; Chandler, K; Tischkowitz, M; Meyer, S

    2015-07-01

    Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities, cross-linker hypersensitivity and extreme cancer predisposition. With better understanding of the genetic and molecular basis of the disease, and improved clinical management, FA has been transformed from a life-limiting paediatric disease to an uncommon chronic condition that needs lifelong multidisciplinary management, and a paradigm condition for the understanding of the gene-environment interaction in the aetiology of congenital anomalies, haematopoiesis and cancer development. Here we review genetic, molecular and clinical aspects of FA, and discuss current controversies and future prospects. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  10. Clinical genomics, big data, and electronic medical records: reconciling patient rights with research when privacy and science collide.

    Science.gov (United States)

    Kulynych, Jennifer; Greely, Henry T

    2017-04-01

    Widespread use of medical records for research, without consent, attracts little scrutiny compared to biospecimen research, where concerns about genomic privacy prompted recent federal proposals to mandate consent. This paper explores an important consequence of the proliferation of electronic health records (EHRs) in this permissive atmosphere: with the advent of clinical gene sequencing, EHR-based secondary research poses genetic privacy risks akin to those of biospecimen research, yet regulators still permit researchers to call gene sequence data 'de-identified', removing such data from the protection of the federal Privacy Rule and federal human subjects regulations. Medical centers and other providers seeking to offer genomic 'personalized medicine' now confront the problem of governing the secondary use of clinical genomic data as privacy risks escalate. We argue that regulators should no longer permit HIPAA-covered entities to treat dense genomic data as de-identified health information. Even with this step, the Privacy Rule would still permit disclosure of clinical genomic data for research, without consent, under a data use agreement, so we also urge that providers give patients specific notice before disclosing clinical genomic data for research, permitting (where possible) some degree of choice and control. To aid providers who offer clinical gene sequencing, we suggest both general approaches and specific actions to reconcile patients' rights and interests with genomic research.

  11. Clinical genomics, big data, and electronic medical records: reconciling patient rights with research when privacy and science collide

    Science.gov (United States)

    Greely, Henry T.

    2017-01-01

    Abstract Widespread use of medical records for research, without consent, attracts little scrutiny compared to biospecimen research, where concerns about genomic privacy prompted recent federal proposals to mandate consent. This paper explores an important consequence of the proliferation of electronic health records (EHRs) in this permissive atmosphere: with the advent of clinical gene sequencing, EHR-based secondary research poses genetic privacy risks akin to those of biospecimen research, yet regulators still permit researchers to call gene sequence data ‘de-identified’, removing such data from the protection of the federal Privacy Rule and federal human subjects regulations. Medical centers and other providers seeking to offer genomic ‘personalized medicine’ now confront the problem of governing the secondary use of clinical genomic data as privacy risks escalate. We argue that regulators should no longer permit HIPAA-covered entities to treat dense genomic data as de-identified health information. Even with this step, the Privacy Rule would still permit disclosure of clinical genomic data for research, without consent, under a data use agreement, so we also urge that providers give patients specific notice before disclosing clinical genomic data for research, permitting (where possible) some degree of choice and control. To aid providers who offer clinical gene sequencing, we suggest both general approaches and specific actions to reconcile patients’ rights and interests with genomic research. PMID:28852559

  12. Educational climate seems unrelated to leadership skills of clinical consultants responsible of postgraduate medical education in clinical departments

    DEFF Research Database (Denmark)

    Malling, Bente Vigh; Mortensen, Lene S.; Scherpbier, Albert J J

    2010-01-01

    The educational climate is crucial in postgraduate medical education. Although leaders are in the position to influence the educational climate, the relationship between leadership skills and educational climate is unknown. This study investigates the relationship between the educational climate...... in clinical departments and the leadership skills of clinical consultants responsible for education....

  13. The pharmacologic and clinical effects of medical cannabis.

    Science.gov (United States)

    Borgelt, Laura M; Franson, Kari L; Nussbaum, Abraham M; Wang, George S

    2013-02-01

    Cannabis, or marijuana, has been used for medicinal purposes for many years. Several types of cannabinoid medicines are available in the United States and Canada. Dronabinol (schedule III), nabilone (schedule II), and nabiximols (not U.S. Food and Drug Administration approved) are cannabis-derived pharmaceuticals. Medical cannabis or medical marijuana, a leafy plant cultivated for the production of its leaves and flowering tops, is a schedule I drug, but patients obtain it through cannabis dispensaries and statewide programs. The effect that cannabinoid compounds have on the cannabinoid receptors (CB(1) and CB(2) ) found in the brain can create varying pharmacologic responses based on formulation and patient characteristics. The cannabinoid Δ(9) -tetrahydrocannabinol has been determined to have the primary psychoactive effects; the effects of several other key cannabinoid compounds have yet to be fully elucidated. Dronabinol and nabilone are indicated for the treatment of nausea and vomiting associated with cancer chemotherapy and of anorexia associated with weight loss in patients with acquired immune deficiency syndrome. However, pain and muscle spasms are the most common reasons that medical cannabis is being recommended. Studies of medical cannabis show significant improvement in various types of pain and muscle spasticity. Reported adverse effects are typically not serious, with the most common being dizziness. Safety concerns regarding cannabis include the increased risk of developing schizophrenia with adolescent use, impairments in memory and cognition, accidental pediatric ingestions, and lack of safety packaging for medical cannabis formulations. This article will describe the pharmacology of cannabis, effects of various dosage formulations, therapeutics benefits and risks of cannabis for pain and muscle spasm, and safety concerns of medical cannabis use. © 2013 Pharmacotherapy Publications, Inc.

  14. Sexual harassment during clinical clerkships in Dutch medical schools.

    Science.gov (United States)

    Rademakers, Jany J D J M; van den Muijsenbergh, Maria E T C; Slappendel, Geerte; Lagro-Janssen, Antoine L M; Borleffs, Jan C C

    2008-05-01

    Sexual harassment of medical students has been the focus of many international studies. Prevalence rates from 18% to over 60% have been reported. However, a Dutch study at Nijmegen Medical School found the prevalence rate to be lower (13.3% in the total group; 20% among female students only). We aimed to identify whether Nijmegen constitutes a positive sample of Dutch medical schools or whether incidents of sexual harassment are less prevalent in the Netherlands than elsewhere, and to establish if and how these experiences impact the professional lives of students. Students received a semi-structured questionnaire containing questions about their experiences of sexual harassment during clerkships. The questions referred to students' reactions to any incidents, the possible consequences for their wellbeing or professional functioning and the way cases of sexual harassment were handled. The prevalence of sexual harassment was significantly higher in Utrecht than in Nijmegen. In both studies rates were relatively low compared with international data. Nevertheless, 1 in 3-5 Dutch female medical students had experienced unwelcome sexual attention from patients, colleagues or supervisors. Three of 10 students who had experienced such an incident stated that it had a negative impact on their functioning afterwards. Prevalence rates of sexual harassment in medical schools in the Netherlands are low compared with international rates. However, the number of women students who experience sexual harassment is still 1 in 3-5. The occurrence of and ways to deal with these incidents should be important topics in the training of medical students and supervisors.

  15. A Comparison of General Medical and Clinical Ethics Consultations: What Can We Learn From Each Other?

    Science.gov (United States)

    Geppert, Cynthia M.A.; Shelton, Wayne N.

    2012-01-01

    Despite the emergence of clinical ethics consultation as a clinical service in recent years, little is known about how clinical ethics consultation differs from, or is the same as, other medical consultations. A critical assessment of the similarities and differences between these 2 types of consultations is important to help the medical community appreciate ethics consultation as a vital service in today's health care setting. Therefore, this Special Article presents a comparison of medical and clinical ethics consultations in terms of fundamental goals of consultation, roles of consultants, and methodologic approaches to consultation, concluding with reflections on important lessons about the physician-patient relationship and medical education that may benefit practicing internists. Our aim is to examine ethics consultation as a clinical service integral to the medical care of patients. Studies for this analysis were obtained through the PubMed database using the keywords ethics consultation, medical consultation, ethics consults, medical consults, ethics consultants, and medical consultants. All English-language articles published from 1970 through August 2011 that pertained to the structure and process of medical and ethics consultation were reviewed. PMID:22469350

  16. Diagnosis and clinical genetics of Cushing syndrome in pediatrics

    Science.gov (United States)

    Stratakis, Constantine A.

    2016-01-01

    SYNOPSIS Endogenous Cushing syndrome (CS) in pediatrics is rare; it may be caused by tumors that produce corticotropin (ACTH) in the pituitary gland (this form of CS is called Cushing disease) or elsewhere (ectopic CS), tumors that produce corticotropin-releasing hormone (CRH) anywhere (mostly neuroendocrine tissues), and finally adrenocortical masses that produce cortisol, such as adrenocortical cancer (ACC) or adenomas, and bilateral adrenocortical hypeprlasia (BAHs). ACC is a very rare cause of CS in children but should be excluded first, especially among younger patients. CS in children is often caused by germline or somatic mutations in an expanding list of genes with implications for the prognosis of the patients and for their families. CS should be early recognized in children; otherwise, it can lead to significant morbidity and mortality. All patients with suspected CS should be referred to specialized clinical centers for work-up; these centers should have access to experienced endocrine and neurological surgeons. PMID:27241967

  17. Atlas of the clinical genetics of human dilated cardiomyopathy

    DEFF Research Database (Denmark)

    Haas, Jan; Frese, Karen S; Peil, Barbara

    2015-01-01

    AIM: Numerous genes are known to cause dilated cardiomyopathy (DCM). However, until now technological limitations have hindered elucidation of the contribution of all clinically relevant disease genes to DCM phenotypes in larger cohorts. We now utilized next-generation sequencing to overcome...... these limitations and screened all DCM disease genes in a large cohort. METHODS AND RESULTS: In this multi-centre, multi-national study, we have enrolled 639 patients with sporadic or familial DCM. To all samples, we applied a standardized protocol for ultra-high coverage next-generation sequencing of 84 genes...... disease variants, we find titin, plakophilin-2, myosin-binding protein-C 3, desmoplakin, ryanodine receptor 2, desmocollin-2, desmoglein-2, and SCN5A variants among the most commonly mutated genes. The overlap between DCM, hypertrophic cardiomyopathy (HCM), and channelopathy causing mutations...

  18. X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.

    Science.gov (United States)

    Fullwood, P; Jones, J; Bundey, S; Dudgeon, J; Fielder, A R; Kilpatrick, M W

    1993-03-01

    A four generation family in which familial exudative vitreoretinopathy is inherited as an X linked condition is described. Essentially the condition is one of abnormal vascularisation and signs at birth are those of a retinopathy superficially resembling retinopathy of prematurity, retinal folds, or, in advanced cases, enophthalmos or even phthisis. Prognosis depends on the progression of the retinal changes. The family members, including seven affected males and five obligate carrier females, have been types for 20 DNA markers, and linkage analysis suggests a gene locus either at Xq21.3 or at Xp11. As the latter region includes the locus for the gene for Norrie disease, it is possible that this and X linked vitreoretinopathy are allelic. We can further speculate that the differences in severity of the clinical manifestations are dependent only upon the timing of the insult.

  19. [Wolfram syndrome: clinical features, molecular genetics of WFS1 gene].

    Science.gov (United States)

    Tanabe, Katsuya; Matsunaga, Kimie; Hatanaka, Masayuki; Akiyama, Masaru; Tanizawa, Yukio

    2015-02-01

    Wolfram syndrome(WFS: OMIM 222300) is a rare recessive neuro-endocrine degenerative disorder, known as DIDMOAD(Diabetes Insipidus, early-onset Diabetes Mellitus, Optic Atrophy and Deafness) syndrome. Most affected individuals carry recessive mutations in the Wolfram syndrome 1 gene(WFS1). The WFS1 protein is an endoplasmic reticulum(ER) embedded protein, which functions in ER calcium homeostasis and unfolded protein responses. Dysregulation of these cellular processes results in the development of ER stress, leading to apoptosis. In addition, abundantly present WFS1 protein in insulin secretory granules plays a role in the intra-granular acidification. However, the phenotypic pleiomorphism and molecular complexity of this disease limit the understanding of WFS. Here we review clinical features, molecular mechanisms and mutations of WFS1 gene that relate to this syndrome.

  20. 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

  1. Cost of a dedicated ART clinic | Harling | South African Medical ...

    African Journals Online (AJOL)

    Abstract. Background. The provision of antiretroviral therapy (ART) is being rolled out across South Africa. Little evidence exists on the cost of running clinics for ART provision. Objectives. To determine the cost per patient-month enrolled in an ART programme and per patient-visit for a dedicated, public-sector ART clinic in a ...

  2. [Diagnostics of the genetic causes of autism spectrum disorders - a clinical geneticist's view].

    Science.gov (United States)

    Szczaluba, Krzysztof

    2014-01-01

    Explanation of the genetic basis of autism spectrum disorders has, for many decades, been a part of interest of researchers and clinicians. In recent years, thanks to modern molecular and cytogenetic techniques, a significant progress has been achieved in the diagnosis of genetic causes of autism. This applies particularly, but not exclusively, to those cases of autism that are accompanied by other clinical signs (i. e. complex phenotypes). The important clinical markers belong to different categories, and include congenital defects/anomalies, dysmorphism and macro-/microcephaly, to name the few. Thus, the choice of the diagnostic strategy depends on the clinical and pedigree information and, under Polish circumstances, the availability of specific diagnostic techniques and the amount of reimbursement under the National Health Service. Overall, the identification of the genetic causes of autism spectrum disorders is possible in about 10-30% of patients. In this paper the practical aspects of the use of different diagnostic techniques are briefly described. Some clinical examples and current recommendations for the diagnosis of patients with autism spectrum disorders are also presented. The point of view of a specialist in clinical genetics, increasingly involved, as part of the multidisciplinary care team, in the diagnostics of an autistic child has been demonstrated.

  3. Variation in clinical phenotype of human infection among genetic groups of Blastomyces dermatitidis

    Science.gov (United States)

    Meece, Jennifer K.; Anderson, Jennifer L.; Gruszka, Sarah; Sloss, Brian L.; Sullivan, Bradley; Reed, Kurt D.

    2013-01-01

    Background. Blastomyces dermatitidis, the etiologic agent of blastomycosis, has 2 genetic groups and shows varied clinical presentation, ranging from silent infections to fulminant respiratory disease and dissemination. The objective of this study was to determine whether clinical phenotype and outcomes vary based on the infecting organism's genetic group.Methods. We used microsatellites to genotype 227 clinical isolates of B. dermatitidis from Wisconsin patients. For each isolate, corresponding clinical disease characteristics and patient demographic information were abstracted from electronic health records and Wisconsin Division of Health reportable disease forms and questionnaires.Results. In univariate analysis, group 1 isolates were more likely to be associated with pulmonary-only infections (P 1 month (P smoking status (P = .0001) remained predictors for group 2 infections.Conclusions. This study identified previously unknown associations between clinical phenotype of human infection and genetic groups of B. dermatitidis and provides a framework for further investigations of the genetic basis for virulence in B. dermatitidis.

  4. Microneedle delivery: clinical studies and emerging medical applications.

    Science.gov (United States)

    Pettis, Ronald J; Harvey, Alfred J

    2012-03-01

    The concept of microneedle drug delivery was described three decades ago; however, effective clinical demonstration has only occurred within the past 10-15 years. Substantial progress in microneedle design and fabrication including extensive in vitro, ex vivo, and in vivo preclinical evaluation with various drugs, vaccines and other agents has transpired over the last decade. In contrast with this large volume of preclinical data, there are relatively few published microneedle clinical studies. To date, the clinical investigative focus has included testing to reduce dermal barrier properties and enhance transdermal delivery; evaluation of enhanced vaccine antigenicity, including development of the first commercial microneedle product for intradermal influenza vaccination; evaluation of altered microneedle protein pharmacokinetics and pharmacodynamics, especially for insulin; and evaluation of the pain and other perceptions associated with microneedle usage. This review summarizes the various aspects of microneedle clinical evaluation to date and identifies areas requiring further clinical evaluation.

  5. Medical students' emotional development in early clinical experience : a model

    NARCIS (Netherlands)

    Helmich, Esther; Bolhuis, Sanneke; Laan, Roland; Dornan, Tim; Koopmans, Raymond

    Dealing with emotions is a critical feature of professional behaviour. There are no comprehensive theoretical models, however, explaining how medical students learn about emotions. We aimed to explore factors affecting their emotions and how they learn to deal with emotions in themselves and others.

  6. Clinical evaluation of coded excitation in medical ultrasound

    DEFF Research Database (Denmark)

    Pedersen, Morten Høgholm; Misaridis, Thanssis; Jensen, Jørgen Arendt

    2003-01-01

    -K Medical model 3535) with transmitter and receiver boards developed in our group and a mechanical 4 MHz transducer were used. The system acquired coded and conventional US image frames interleaved, yielding identical acquisitions with the two techniques. Cine-loop sequences were evaluated by three...

  7. Nigerian Clinical Level Medical Students' Knowledge of Dental ...

    African Journals Online (AJOL)

    Physicians provide some form of care for patients with dental problems which range from screening, emergency cares, referral to alleviation of pain symptoms in general medical practice, pediatric, and accident and emergency (A and E) department,[1-5]. Prevention of oral diseases is expected to be effective if the.

  8. Medical Students' Understanding of Directed Questioning by Their Clinical Preceptors.

    Science.gov (United States)

    Lo, Lawrence; Regehr, Glenn

    2017-01-01

    Phenomenon: Throughout clerkship, preceptors ask medical students questions for both assessment and teaching purposes. However, the cognitive and strategic aspects of students' approaches to managing this situation have not been explored. Without an understanding of how students approach the question and answer activity, medical educators are unable to appreciate how effectively this activity fulfills their purposes of assessment or determine the activity's associated educational effects. A convenience sample of nine 4th-year medical students participated in semistructured one-on-one interviews exploring their approaches to managing situations in which they have been challenged with questions from preceptors to which they do not know the answer. Through an iterative and recursive analytic reading of the interview transcripts, data were coded and organized to identify themes relevant to the students' considerations in answering such questions. Students articulated deliberate strategies for managing the directed questioning activity, which at times focused on the optimization of their learning but always included considerations of image management. Managing image involved projecting not only being knowledgeable but also being teachable. The students indicated that their considerations in selecting an appropriate strategy in a given situation involved their perceptions of their preceptors' intentions and preferences as well as several contextual factors. Insights: The medical students we interviewed were quite sophisticated in their understanding of the social nuances of the directed questioning process and described a variety of contextually invoked strategies to manage the situation and maintain a positive image.

  9. Should a clinical rotation in hematology be mandatory for undergraduate medical students?

    Directory of Open Access Journals (Sweden)

    Mandan J

    2016-09-01

    Full Text Available Jay Mandan,1 Harmeet Singh Sidhu,1 Adil Mahmood2 1Faculty of Medicine, Imperial College London, London, UK; 2Faculty of Life Sciences and Medicine, King’s College London, London, UK Abstract: Clinical rotations form the foundation of medical education. Medical students in the UK are offered conventional rotations such as cardiology, surgery, and psychiatry as part of their undergraduate curriculum, but a rotation in hematology is not currently mandatory. This paper explores the benefits of a compulsory hematology rotation, and suggests recommendations for its implementation in UK medical school curricula. Keywords: medical education, clinical rotations, hematology

  10. Education research: case logs in the assessment of medical students in the neurology outpatient clinic.

    Science.gov (United States)

    Albert, Dara V; Brorson, James R; Amidei, Christina; Lukas, Rimas V

    2014-04-22

    Using outpatient neurology clinic case logs completed by medical students on neurology clerkships, we examined the impact of outpatient clinical encounter volume per student on outcomes of knowledge assessed by the National Board of Medical Examiners (NBME) Clinical Neurology Subject Examination and clinical skills assessed by the Objective Structured Clinical Examination (OSCE). Data from 394 medical students from July 2008 to June 2012, representing 9,791 patient encounters, were analyzed retrospectively. Pearson correlations were calculated examining the relationship between numbers of cases logged per student and performance on the NBME examination. Similarly, correlations between cases logged and performance on the OSCE, as well as on components of the OSCE (history, physical examination, clinical formulation), were evaluated. There was a correlation between the total number of cases logged per student and NBME examination scores (r = 0.142; p = 0.005) and OSCE scores (r = 0.136; p = 0.007). Total number of cases correlated with the clinical formulation component of the OSCE (r = 0.172; p = 0.001) but not the performance on history or physical examination components. The volume of cases logged by individual students in the outpatient clinic correlates with performance on measures of knowledge and clinical skill. In measurement of clinical skill, seeing a greater volume of patients in the outpatient clinic is related to improved clinical formulation on the OSCE. These findings may affect methods employed in assessment of medical students, residents, and fellows.

  11. AAPM Medical Physics Practice Guideline 3.a: Levels of supervision for medical physicists in clinical training.

    Science.gov (United States)

    Seibert, J Anthony; Clements, Jessica B; Halvorsen, Per H; Herman, Michael G; Martin, Melissa C; Palta, Jatinder; Pfeiffer, Douglas E; Pizzutiello, Robert J; Schueler, Beth A; Shepard, S Jeff; Fairobrent, Lynne A

    2015-05-08

    The American Association of Physicists in Medicine (AAPM) is a nonprofit professional society whose primary purposes are to advance the science, education and professional practice of medical physics. The AAPM has more than 8,000 members and is the principal organization of medical physicists in the United States.The AAPM will periodically define new practice guidelines for medical physics practice to help advance the science of medical physics and to improve the quality of service to patients throughout the United States. Existing medical physics practice guidelines will be reviewed for the purpose of revision or renewal, as appropriate, on their fifth anniversary or sooner.Each medical physics practice guideline represents a policy statement by the AAPM, has undergone a thorough consensus process in which it has been subjected to extensive review, and requires the approval of the Professional Council. The medical physics practice guidelines recognize that the safe and effective use of diagnostic and therapeutic radiology requires specific training, skills, and techniques, as described in each document. Reproduction or modification of the published practice guidelines and technical standards by those entities not providing these services is not authorized.The following terms are used in the AAPM practice guidelines:Must and Must Not: Used to indicate that adherence to the recommendation is considered necessary to conform to this practice guideline.Should and Should Not: Used to indicate a prudent practice to which exceptions may occasionally be made in appropriate circumstances.

  12. Growth hormone receptor deficiency (Laron syndrome): clinical and genetic characteristics.

    Science.gov (United States)

    Guevara-Aguirre, J; Rosenbloom, A L; Vaccarello, M A; Fielder, P J; de la Vega, A; Diamond, F B; Rosenfeld, R G

    1991-01-01

    Approximately 60 cases of GHRD (Laron syndrome) were reported before 1990 and half of these were from Israel. We have described 47 additional patients from an inbred population of South Ecuador and have emphasized certain clinical features including: markedly advanced osseous maturation for height age; normal body proportions in childhood but child-like proportions in adults; much greater deviation of stature than head size, giving an appearance of large cranium and small facies; underweight in childhood despite the appearance of obesity and true obesity in adulthood; blue scleras; and limited elbow extension. The Ecuadorean patients differed markedly and most importantly from the other large concentration, in Israel, by being of normal or superior intelligence, suggesting a unique linkage in the Ecuadorean population. The Ecuadorean population also differed in that those patients coming from Loja province had a markedly skewed sex ratio (19 females: 2 males), while those from El Oro province had a normal sex distribution (14 females: 12 males). The phenotypic similarity between the El Oro and Loja patients indicates that this abnormal sex distribution is not a direct result of the GHRD.

  13. Genetic Manipulation of NK Cells for Cancer Immunotherapy: Techniques and Clinical Implications.

    Science.gov (United States)

    Carlsten, Mattias; Childs, Richard W

    2015-01-01

    Given their rapid and efficient capacity to recognize and kill tumor cells, natural killer (NK) cells represent a unique immune cell to genetically reprogram in an effort to improve the outcome of cell-based cancer immunotherapy. However, technical and biological challenges associated with gene delivery into NK cells have significantly tempered this approach. Recent advances in viral transduction and electroporation have now allowed detailed characterization of genetically modified NK cells and provided a better understanding for how these cells can be utilized in the clinic to optimize their capacity to induce tumor regression in vivo. Improving NK cell persistence in vivo via autocrine IL-2 and IL-15 stimulation, enhancing tumor targeting by silencing inhibitory NK cell receptors such as NKG2A, and redirecting tumor killing via chimeric antigen receptors, all represent approaches that hold promise in preclinical studies. This review focuses on available methods for genetic reprograming of NK cells and the advantages and challenges associated with each method. It also gives an overview of strategies for genetic reprograming of NK cells that have been evaluated to date and an outlook on how these strategies may be best utilized in clinical protocols. With the recent advances in our understanding of the complex biological networks that regulate the ability of NK cells to target and kill tumors in vivo, we foresee genetic engineering as an obligatory pathway required to exploit the full potential of NK-cell based immunotherapy in the clinic.

  14. Compliance between clinical and genetic diagnosis of choroidal hypoplasia in 103 Norwegian Border Collie puppies.

    Science.gov (United States)

    Grosås, Siv; Lingaas, Frode; Prestrud, Kristin Wear; Ropstad, Ernst-Otto

    2017-11-07

    To describe the frequency of the nonhomologous end-joining factor 1 (NHEJ1) mutation and the compliance between clinical and genetic diagnosis of choroidal hypoplasia (CH) in a group of Norwegian Border Collies. Border collie puppies in the age from 5 to 8 weeks. Puppies included in the study had a complete ophthalmological examination. All findings were recorded, and an ECVO scheme form was issued for each puppy. DNA samples were achieved from buccal swabs. Genetic typing was performed for the 7.8-kb deletion in the gene encoding NHEJ1. Dogs with none, one, or two copies of the mutated allele were classified as free, carriers, and affected, respectively. 103 Border Collie puppies from 16 litters, 52 females and 51 males, were included in the study. Ages ranged from 5.1 to 8.9 weeks. One puppy had clinical findings consistent with CH and optic nerve coloboma compatible with the diagnosis Collie Eye Anomaly (CEA). Findings on ophthalmological examination of the remaining puppies were within normal limits. On genetic testing, 85 puppies were clear of the mutation in the NHEJ1 gene, 17 puppies were carriers, and one puppy was genetically affected. A good compliance between the clinical diagnosis and the genetic test results was found in all of the puppies examined. The allele frequency of the mutation was 6.3%. © 2017 American College of Veterinary Ophthalmologists.

  15. [Hospital clinical engineer orientation and function in the maintenance system of hospital medical equipment].

    Science.gov (United States)

    Li, Bin; Zheng, Yunxin; He, Dehua; Jiang, Ruiyao; Chen, Ying; Jing, Wei

    2012-03-01

    The quantity of medical equipment in hospital rise quickly recent year. It provides the comprehensive support to the clinical service. The maintenance of medical equipment becomes more important than before. It is necessary to study on the orientation and function of clinical engineer in medical equipment maintenance system. Refer to three grade health care system, the community doctors which is called General practitioner, play an important role as the gatekeeper of health care system to triage and cost control. The paper suggests that hospital clinical engineer should play similar role as the gatekeeper of medical equipment maintenance system which composed by hospital clinical engineer, manufacture engineer and third party engineer. The hospital clinical engineer should be responsible of guard a pass of medical equipment maintenance quality and cost control. As the gatekeeper, hospital clinical engineer should take the responsibility of "General engineer" and pay more attention to safety and health of medical equipment. The responsibility description and future transition? development of clinical engineer as "General Engineer" is discussed. More attention should be recommended to the team building of hospital clinical engineer as "General Engineer".

  16. 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.

  17. Genetics of Type 2 Diabetes: Insights into the Pathogenesis and Its Clinical Application

    Directory of Open Access Journals (Sweden)

    Xue Sun

    2014-01-01

    Full Text Available With rapidly increasing prevalence, diabetes has become one of the major causes of mortality worldwide. According to the latest studies, genetic information makes substantial contributions towards the prediction of diabetes risk and individualized antidiabetic treatment. To date, approximately 70 susceptibility genes have been identified as being associated with type 2 diabetes (T2D at a genome-wide significant level (P<5×10-8. However, all the genetic loci identified so far account for only about 10% of the overall heritability of T2D. In addition, how these novel susceptibility loci correlate with the pathophysiology of the disease remains largely unknown. This review covers the major genetic studies on the risk of T2D based on ethnicity and briefly discusses the potential mechanisms and clinical utility of the genetic information underlying T2D.

  18. Genetic Counseling Supervisors' Self-Efficacy for Select Clinical Supervision Competencies.

    Science.gov (United States)

    Finley, Sabra Ledare; Veach, Pat McCarthy; MacFarlane, Ian M; LeRoy, Bonnie S; Callanan, Nancy

    2016-04-01

    Supervision is a primary instructional vehicle for genetic counseling student clinical training. Approximately two-thirds of genetic counselors report teaching and education roles, which include supervisory roles. Recently, Eubanks Higgins and colleagues published the first comprehensive list of empirically-derived genetic counseling supervisor competencies. Studies have yet to evaluate whether supervisors possess these competencies and whether their competencies differ as a function of experience. This study investigated three research questions: (1) What are genetic counselor supervisors' perceptions of their capabilities (self-efficacy) for a select group of supervisor competencies?, (2) Are there differences in self-efficacy as a function of their supervision experience or their genetic counseling experience, and 3) What training methods do they use and prefer to develop supervision skills? One-hundred thirty-one genetic counselor supervisors completed an anonymous online survey assessing demographics, self-efficacy (self-perceived capability) for 12 goal setting and 16 feedback competencies (Scale: 0-100), competencies that are personally challenging, and supervision training experiences and preferences (open-ended). A MANOVA revealed significant positive effects of supervision experience but not genetic counseling experience on participants' self-efficacy. Although mean self-efficacy ratings were high (>83.7), participant comments revealed several challenging competencies (e.g., incorporating student's report of feedback from previous supervisors into goal setting, and providing feedback about student behavior rather than personal traits). Commonly preferred supervision training methods included consultation with colleagues, peer discussion, and workshops/seminars.

  19. Clinical psychomotor skills among left and right handed medical students: are the left-handed medical students left out?

    Science.gov (United States)

    Alnassar, Sami; Alrashoudi, Aljoharah Nasser; Alaqeel, Mody; Alotaibi, Hala; Alkahel, Alanoud; Hajjar, Waseem; Al-Shaikh, Ghadeer; Alsaif, Abdulaziz; Haque, Shafiul; Meo, Sultan Ayoub

    2016-03-22

    There is a growing perception that the left handed (LH) medical students are facing difficulties while performing the clinical tasks that involve psychomotor skill, although the evidence is very limited and diverse. The present study aimed to evaluate the clinical psychomotor skills among Right-handed (RH) and left-handed (LH) medical students. For this study, 54 (27 left handed and 27 right handed) first year medical students were selected. They were trained for different clinical psychomotor skills including suturing, laparoscopy, intravenous cannulation and urinary catheterization under the supervision of certified instructors. All students were evaluated for psychomotor skills by different instructors. The comparative performance of the students was measured by using a global rating scale, each selected criteria was allotted 5-points score with the total score of 25. There were no significant differences in the performance of psychomotor skills among LH and RH medical students. The global rating score obtained by medical students in suturing techniques was: LH 15.89 ± 2.88, RH 16.15 ± 2.75 (p = 0.737), cannulation techniques LH 20.44 ± 2.81, RH 20.70 ± 2.56 (p = 0.725), urinary catheterization LH 4.33 ± 0.96 RH 4.11 ± 1.05 (p = 0.421). For laparoscopic skills total peg transfer time was shorter among LH medical students compared to RH medical students (LH 129.85 ± 80.87 s vs RH 135.52 ± 104.81 s) (p = 0.825). However, both RH and LH students completed their procedure within the stipulated time. Among LH and RH medical students no significant difference was observed in performing the common surgical psychomotor skills. Surgical skills for LH or RH might not be a result of innate dexterity but rather the academic environment in which they are trained and assessed. Early laterality-related mentoring in medical schools as well as during the clinical residency might reduce the inconveniences faced by the left

  20. Classification of Clinically Relevant Microorganisms in Non-Medical Environments

    National Research Council Canada - National Science Library

    Bowers, Daniel

    2004-01-01

    .... He named them Staphylococcus aureus because of their golden color. S. aureus remains one of the most important pathogens in clinical settings largely due to the rapidity of its evolutionary response to treatment...

  1. Cannabis - its clinical effects | Solomons | South African Medical ...

    African Journals Online (AJOL)

    The range of clinical, intoxicating, psychological and psychiatric effects of cannabis ('dagga') are reviewed. Controversial subjects, such as the entities of toxic cannabis psychosis and the cannabis amotivational syndrome, are discussed. S Afr Med J 1989; 76: 102-104.

  2. Effectiveness of the medication safety review clinics for older adults prescribed multiple medications

    Directory of Open Access Journals (Sweden)

    Ding-Cheng Chan

    2014-02-01

    Conclusion: DRPs were common in geriatric outpatients taking multiple medications and most were solved with appropriate interventions. The MSRC service may improve prescription quality in Taiwan if widely available.

  3. Genetic tests in major psychiatric disorders-integrating molecular medicine with clinical psychiatry-why is it so difficult?

    Science.gov (United States)

    Demkow, U; Wolańczyk, T

    2017-06-13

    With the advent of post-genomic era, new technologies create extraordinary possibilities for diagnostics and personalized therapy, transforming todays' medicine. Rooted in both medical genetics and clinical psychiatry, the paper is designed as an integrated source of information of the current and potential future application of emerging genomic technologies as diagnostic tools in psychiatry, moving beyond the classical concept of patient approach. Selected approaches are presented, starting from currently used technologies (next-generation sequencing (NGS) and microarrays), followed by newer options (reverse phenotyping). Next, we describe an old concept in a new light (endophenotypes), subsequently coming up with a sophisticated and complex approach (gene networks) ending by a nascent field (computational psychiatry). The challenges and barriers that exist to translate genomic research to real-world patient assessment are further discussed. We emphasize the view that only a paradigm shift can bring a fundamental change in psychiatric practice, allowing to disentangle the intricacies of mental diseases. All the diagnostic methods, as described, are directed at uncovering the integrity of the system including many types of relations within a complex structure. The integrative system approach offers new opportunity to connect genetic background with specific diseases entities, or concurrently, with symptoms regardless of a diagnosis. To advance the field, we propose concerted cross-disciplinary effort to provide a diagnostic platform operating at the general level of genetic pathogenesis of complex-trait psychiatric disorders rather than at the individual level of a specific disease.

  4. AACE/ACE Disease State Clinical Review: Medical Management of Cushing Disease.

    Science.gov (United States)

    Hamrahian, Amir H; Yuen, Kevin C J; Hoffman, Andrew R

    2014-07-01

    To review available medical therapies for patients with Cushing disease and to provide a roadmap for their use in clinical practice. PubMed searches were performed to identify all of the available published data on medical management of Cushing disease. Medical therapy is usually not the first-line treatment for patients with Cushing disease but may be used to improve clinical manifestations of Cushing disease in patients who are not suitable candidates for surgery, following unsuccessful surgery or recurrence, or as a "bridge therapy" in those who have undergone radiotherapy. Medical therapy may also be used in preoperative preparation of patients with severe disease. Current available medical options for patients with Cushing disease include centrally acting agents, steroidogenesis inhibitors, and a glucocorticoid receptor antagonists. At present, there are no head-to-head studies comparing the efficacy, tolerability, and safety of different U.S. Food and Drug Administration (FDA)- and non-FDA-approved drugs in patients with Cushing disease. With the initiation of new studies and the completion of ongoing clinical trials, the number of FDA-approved drugs for medical treatment of Cushing disease is expected to increase. Medical therapy has an important adjunctive role in the management of patients with Cushing disease. The decision to initiate medical treatment depends on many factors, including patient characteristics and preference. Long-term studies are needed to better define the clinical efficacy, safety, and tolerability of medical treatment of Cushing disease, including the role of combination therapies.

  5. Medical graduates feel well-prepared for clinical work

    DEFF Research Database (Denmark)

    Mørcke, Anne Mette; Nielsen, Dorte Guldbrand; Kjeldsen, Inge Trads

    2011-01-01

    INTRODUCTION: The purpose of this study was to assess the coherence between the undergraduate medical program at Aarhus University and the foundation year. MATERIAL AND METHODS: This cross-sectional questionnaire survey included 503 doctors graduated from Aarhus University from the winter of 2007....../2008 to the summer of 2009. RESULTS: The response rate was 73%. Approximately 73% of the respondents were in their foundation year or their first year of specialist training and 83% generally felt well-prepared. Respondents found that most of the learning outcomes of the undergraduate medical curriculum at Aarhus...... of diagnoses, initiation of treatment, pharmacotherapy, handling of own emotions and structuring of own learning. Also, 40% stated that their clerkships had only had little value in preparing them for their foundation year. CONCLUSION: Overall, graduates felt well-prepared and characterized the education...

  6. Clinical psychopharmacology and medical malpractice: the four Ds.

    Science.gov (United States)

    Preskorn, Sheldon H

    2014-09-01

    The four Ds of medical malpractice are duty, dereliction (negligence or deviation from the standard of care), damages, and direct cause. Each of these four elements must be proved to have been present, based on a preponderance of the evidence, for malpractice to be found. The principles of psychopharmacology and the information in the package insert for a drug often play a central role in deciding whether dereliction and direct cause for damages were or were not applicable in a particular case. The author uses data from two cases in which patients were inadvertently fatally poisoned by medication to illustrate two ways in which such information can affect the outcome. In one case, the clinician should have known that he was giving a toxic dose to the patient, whereas that was not true in the other case.

  7. Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype

    Directory of Open Access Journals (Sweden)

    Johnathan Cooper-Knock

    2017-11-01

    consistent with an oligogenic model of ALS. We provide evidence for a number of entirely novel genetic variants of ALS caused by mutations in RNA-binding proteins. Moreover we show that these mutations act synergistically with each other and with C9ORF72 expansions to modify the clinical phenotype of ALS. A key finding is that this synergy is present only between functionally interacting variants. This work has significant implications for ALS therapy development.

  8. [Analysis of Applying Chinese Medical Clinical Pathway for Treating Attention-deficit Hyperactivity Disorder].

    Science.gov (United States)

    Guo, Yu-qing; Han, Xin-min; Zhu, Xian-kang; Zhou, Zheng; Ma, Bing-xiang; Zhang, Bao-qing; Li, Yan-ning; Feng, Yu-lin; Xue, Zheng; Wang, Yong-hong; Li, Yi-min; Jiang, Zhi-mei; Xu, Jin-xing; Yue, Wei-zhen; Xiang, Xi-xiong

    2015-12-01

    To evaluate the application effect of Chinese medical clinical pathway for treating attention-deficit hyperactivity disorder (ADHD), and to provide evidence for further improving clinical pathways. Totally 270 ADHD children patients were recruited and treated at pediatrics clinics of 9 cooperative hospitals from December 2011 to December 2012. The treatment course for all was 3 months. Scores of attention deficit and hyperactivity rating scale, scores of behavior, Conners index of hyperactivity (CIH), and Chinese medical syndrome scores were compared between before and after treatment. The efficacy difference in various sexes, ages, and disease courses were evaluated by judging standards for Chinese medical syndrome and ADHD. Fifteen children patients who entered clinical pathway dropped out, and the rest 255 completed this trial. Compared with before treatment, total scores of attention deficit and hyperactivity rating scale, scores of attention deficit and hyperactivity rating scale, CIH, and Chinese medical syndrome scores obviously decreased (all P < 0.01). The total effective rate in disease efficacy was 87.8% (224/255 cases), and the total effective rate in Chinese medical syndrome curative effect was 87.5% (223/255 cases). The clinical curative effect was not influenced by age, gender, or course of disease when statistically analyzed from judging standards for Chinese medical syndrome or for disease efficacy. Intervention by Chinese medical clinical pathway could improve ADHD patients' symptoms, and its efficacy was not influenced by sex, age, or course of disease.

  9. Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic

    Directory of Open Access Journals (Sweden)

    Samantha B. Foley

    2015-01-01

    Full Text Available Despite the potential of whole-genome sequencing (WGS to improve patient diagnosis and care, the empirical value of WGS in the cancer genetics clinic is unknown. We performed WGS on members of two cohorts of cancer genetics patients: those with BRCA1/2 mutations (n = 176 and those without (n = 82. Initial analysis of potentially pathogenic variants (PPVs, defined as nonsynonymous variants with allele frequency < 1% in ESP6500 in 163 clinically-relevant genes suggested that WGS will provide useful clinical results. This is despite the fact that a majority of PPVs were novel missense variants likely to be classified as variants of unknown significance (VUS. Furthermore, previously reported pathogenic missense variants did not always associate with their predicted diseases in our patients. This suggests that the clinical use of WGS will require large-scale efforts to consolidate WGS and patient data to improve accuracy of interpretation of rare variants. While loss-of-function (LoF variants represented only a small fraction of PPVs, WGS identified additional cancer risk LoF PPVs in patients with known BRCA1/2 mutations and led to cancer risk diagnoses in 21% of non-BRCA cancer genetics patients after expanding our analysis to 3209 ClinVar genes. These data illustrate how WGS can be used to improve our ability to discover patients' cancer genetic risks.

  10. Genetic, clinical and pharmacological determinants of out-of-hospital cardiac arrest

    DEFF Research Database (Denmark)

    Blom, M T; van Hoeijen, D A; Bardai, A

    2014-01-01

    INTRODUCTION: Out-of-hospital cardiac arrest (OHCA) is a major public health problem. Recognising the complexity of the underlying causes of OHCA in the community, we aimed to establish the clinical, pharmacological, environmental and genetic factors and their interactions that may cause OHCA. ME......-reviewed journals and presented at relevant scientific symposia....

  11. Genetic associations for pathogen-specific clinical mastitis and patterns of peaks in somatic cell count

    NARCIS (Netherlands)

    Haas, de Y.; Barkema, H.W.; Schukken, Y.H.; Veerkamp, R.F.

    2003-01-01

    Genetic associations were estimated between pathogen-specific cases of clinical mastitis (CM), lactational average somatic cell score (LACSCS), and patterns of peaks in somatic cell count (SCC) which were based on deviations from the typical lactation curve for SCC. The dataset contained test-day

  12. Relationship between Trypanosoma brucei rhodesiense genetic diversity and clinical spectrum among sleeping sickness patients in Uganda.

    Science.gov (United States)

    Kato, Charles D; Mugasa, Claire M; Nanteza, Ann; Matovu, Enock; Alibu, Vincent P

    2017-10-27

    Human African trypanosomiasis (HAT) due to Trypanosoma brucei rhodesiense in East and southern Africa is reported to be clinically diverse. We tested the hypothesis that this clinical diversity is associated with a variation in trypanosome genotypes. Trypanosome DNA isolated from HAT patients was genotyped using 7 microsatellite markers directly from blood spotted FTA cards following a whole genome amplification. All markers were polymorphic and identified 17 multi-locus genotypes with 56% of the isolates having replicate genotypes. We did not observe any significant clustering between isolates and bootstrap values across major tree nodes were insignificant. When genotypes were compared among patients with varying clinical presentation or outcome, replicate genotypes were observed at both extremes showing no significant association between genetic diversity and clinical outcome. Our study shows that T. b. rhodesiense isolates are homogeneous within a focus and that observed clinical diversity may not be associated with parasite genetic diversity. Other factors like host genetics and environmental factors might be involved in determining clinical diversity. Our study may be important in designing appropriate control measures that target the parasite.

  13. Improving Decision Making about Genetic Testing in the Clinic: An Overview of Effective Knowledge Translation Interventions.

    Science.gov (United States)

    Légaré, France; Robitaille, Hubert; Gane, Claire; Hébert, Jessica; Labrecque, Michel; Rousseau, François

    2016-01-01

    Knowledge translation (KT) interventions are attempts to change behavior in keeping with scientific evidence. While genetic tests are increasingly available to healthcare consumers in the clinic, evidence about their benefits is unclear and decisions about genetic testing are thus difficult for all parties. We sought to identify KT interventions that involved decisions about genetic testing in the clinical context and to assess their effectiveness for improving decision making in terms of behavior change, increased knowledge and wellbeing. We searched for trials assessing KT interventions in the context of genetic testing up to March 2014 in all systematic reviews (n = 153) published by two Cochrane review groups: Effective Practice and Organisation of Care (EPOC) and Consumers and Communication. We retrieved 2473 unique trials of which we retained only 28 (1%). Two EPOC reviews yielded two trials of KT interventions: audit and feedback (n = 1) and educational outreach (n = 1). Both targeted health professionals and the KT intervention they assessed was found to be effective. Four Consumers and Communication reviews yielded 26 trials: decision aids (n = 15), communication of DNA-based disease risk estimates (n = 7), personalized risk communication (n = 3) and mobile phone messaging (n = 1). Among these, 25 trials targeted only health consumers or patients and the KT interventions were found to be effective in four trials, partly effective in seven, and ineffective in four. Lastly, only one trial targeted both physicians and patients and was found to be effective. More research on the effectiveness of KT interventions regarding genetic testing in the clinical context may contribute to patients making informed value-based decisions and drawing the maximum benefit from clinical applications of genetic and genomic innovations.

  14. Improving Decision Making about Genetic Testing in the Clinic: An Overview of Effective Knowledge Translation Interventions.

    Directory of Open Access Journals (Sweden)

    France Légaré

    Full Text Available Knowledge translation (KT interventions are attempts to change behavior in keeping with scientific evidence. While genetic tests are increasingly available to healthcare consumers in the clinic, evidence about their benefits is unclear and decisions about genetic testing are thus difficult for all parties.We sought to identify KT interventions that involved decisions about genetic testing in the clinical context and to assess their effectiveness for improving decision making in terms of behavior change, increased knowledge and wellbeing.We searched for trials assessing KT interventions in the context of genetic testing up to March 2014 in all systematic reviews (n = 153 published by two Cochrane review groups: Effective Practice and Organisation of Care (EPOC and Consumers and Communication.We retrieved 2473 unique trials of which we retained only 28 (1%. Two EPOC reviews yielded two trials of KT interventions: audit and feedback (n = 1 and educational outreach (n = 1. Both targeted health professionals and the KT intervention they assessed was found to be effective. Four Consumers and Communication reviews yielded 26 trials: decision aids (n = 15, communication of DNA-based disease risk estimates (n = 7, personalized risk communication (n = 3 and mobile phone messaging (n = 1. Among these, 25 trials targeted only health consumers or patients and the KT interventions were found to be effective in four trials, partly effective in seven, and ineffective in four. Lastly, only one trial targeted both physicians and patients and was found to be effective.More research on the effectiveness of KT interventions regarding genetic testing in the clinical context may contribute to patients making informed value-based decisions and drawing the maximum benefit from clinical applications of genetic and genomic innovations.

  15. Formal genetic maps

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2014-12-24

    Dec 24, 2014 ... ome/transcriptome/proteome, experimental induced maps that are intentionally designed and con- ... genetic maps imposed their application in nearly all fields of medical genetics including ..... or genes located adjacent to, or near, them. ...... types of markers, e.g., clinical markers (eye color), genomic.

  16. Clinical spectrum and various forms of thyrotoxcosis in endocrine clinic of Jinnah Postgraduate Medical Centre

    International Nuclear Information System (INIS)

    Ahsan, T.; Banu, Z.; Jabeen, R.; Farooq, M. U.

    2013-01-01

    Objective: To evaluate clinical symptoms, signs and various forms of thyrotoxicosis, and to assess the thyroid function status at the first 6-week follow-up. Methods: The retrospective chart review involved thyrotoxic patients presenting at the Endocrine Clinic of Jinnah Postgraduate Medical Centre, Karachi, between April 2007 and January 2011. All hyperthyroid patients were included with the exception of those with suspected or proven malignancy. The records were maintained on a structured proforma and analysed statistically to work out frequencies and percentages. Results: A total of 507 patients were included. Most common form of thyrotoxicosis was Graves disease, with diffuse toxic goiter affecting 269 (53%) patients; followed by toxic multinodular goiter in 102 (20.1%); solitary toxic nodule in 56 (11%); thyrotoxicosis without goiter in 44 (8.7%); subclinical hyperthyroidism in 22 (4.3.%); thyroiditis in 9 (1.8%); and thyrotoxicosis with solitary cold nodule in 4 (0.9%). The common presenting symptoms and signs were goiter (n=415; 85.7%), with eye signs present in 137 (27.7%) patients and heart failure in 20 (4.8%) patients. Of the 321 patients who attended the first six-week follow-up, 309 (94.4%) had their FT4 levels checked. Out of them, 130(42.1%) had euthyroid levels; 113 (36.6%) had lower but still toxic level; 36 (11.7%) had no change; and 30(9.7%) became hypothyroid. TSH levels at first follow-up remained suppressed in 211 (73%) patients; normal in 47(16.3%); and increased in 31 (10.7%). Conclusions: Graves disease was found to be the most common cause of hyperthyroidism. At first follow-up 10.4% of patients had become hypothyroid. Therefore the starting dose of antithyroid drugs was reduced in the clinic. Thyroid stimulating hormone assay was of little help in adjusting treatment at the 6-week follow-up, as almost all cases of hypothyroidism could have been picked up on FT4 assay alone. (author)

  17. Re-thinking clinical assessment: What can we learn from the medical literature?

    International Nuclear Information System (INIS)

    Yielder, Jill; Thompson, Andrea; De Bueger, Tracy

    2012-01-01

    This article explores the literature available in the field of medical education on the topic of clinical assessment, in order to suggest different ways of assessing clinical experience that may not have been considered within undergraduate radiography programmes. The medical literature is contrasted with the clinical assessment currently being used in a medical imaging programme in New Zealand, with the aim of offering suggestions that may benefit the assessment of the clinical and professional elements of radiography programmes more generally. The authors conclude that ideally students need to be assessed in the clinical domain by multiple assessors, with varied assessment methods used repeatedly over a period of time and with the provision of frequent and constructive feedback. Various methods of clinical assessment are suggested and it is emphasised that the methods selected need to be valid, reliable and psychometrically supported. This encourages an evidence-based practice approach that is supportive of on-going programme development and change.

  18. Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq

    Directory of Open Access Journals (Sweden)

    Manabu Nakayama

    2017-03-01

    Full Text Available Autoinflammatory diseases occupy one of a group of primary immunodeficiency diseases that are generally thought to be caused by mutation of genes responsible for innate immunity, rather than by acquired immunity. Mutations related to autoinflammatory diseases occur in 12 genes. For example, low-level somatic mosaic NLRP3 mutations underlie chronic infantile neurologic, cutaneous, articular syndrome (CINCA, also known as neonatal-onset multisystem inflammatory disease (NOMID. In current clinical practice, clinical genetic testing plays an important role in providing patients with quick, definite diagnoses. To increase the availability of such testing, low-cost high-throughput gene-analysis systems are required, ones that not only have the sensitivity to detect even low-level somatic mosaic mutations, but also can operate simply in a clinical setting. To this end, we developed a simple method that employs two-step tailed PCR and an NGS system, MiSeq platform, to detect mutations in all coding exons of the 12 genes responsible for autoinflammatory diseases. Using this amplicon sequencing system, we amplified a total of 234 amplicons derived from the 12 genes with multiplex PCR. This was done simultaneously and in one test tube. Each sample was distinguished by an index sequence of second PCR primers following PCR amplification. With our procedure and tips for reducing PCR amplification bias, we were able to analyze 12 genes from 25 clinical samples in one MiSeq run. Moreover, with the certified primers designed by our short program—which detects and avoids common SNPs in gene-specific PCR primers—we used this system for routine genetic testing. Our optimized procedure uses a simple protocol, which can easily be followed by virtually any office medical staff. Because of the small PCR amplification bias, we can analyze simultaneously several clinical DNA samples with low cost and can obtain sufficient read numbers to detect a low level of

  19. Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

    Science.gov (United States)

    Nakayama, Manabu; Oda, Hirotsugu; Nakagawa, Kenji; Yasumi, Takahiro; Kawai, Tomoki; Izawa, Kazushi; Nishikomori, Ryuta; Heike, Toshio; Ohara, Osamu

    2017-03-01

    Autoinflammatory diseases occupy one of a group of primary immunodeficiency diseases that are generally thought to be caused by mutation of genes responsible for innate immunity, rather than by acquired immunity. Mutations related to autoinflammatory diseases occur in 12 genes. For example, low-level somatic mosaic NLRP3 mutations underlie chronic infantile neurologic, cutaneous, articular syndrome (CINCA), also known as neonatal-onset multisystem inflammatory disease (NOMID). In current clinical practice, clinical genetic testing plays an important role in providing patients with quick, definite diagnoses. To increase the availability of such testing, low-cost high-throughput gene-analysis systems are required, ones that not only have the sensitivity to detect even low-level somatic mosaic mutations, but also can operate simply in a clinical setting. To this end, we developed a simple method that employs two-step tailed PCR and an NGS system, MiSeq platform, to detect mutations in all coding exons of the 12 genes responsible for autoinflammatory diseases. Using this amplicon sequencing system, we amplified a total of 234 amplicons derived from the 12 genes with multiplex PCR. This was done simultaneously and in one test tube. Each sample was distinguished by an index sequence of second PCR primers following PCR amplification. With our procedure and tips for reducing PCR amplification bias, we were able to analyze 12 genes from 25 clinical samples in one MiSeq run. Moreover, with the certified primers designed by our short program-which detects and avoids common SNPs in gene-specific PCR primers-we used this system for routine genetic testing. Our optimized procedure uses a simple protocol, which can easily be followed by virtually any office medical staff. Because of the small PCR amplification bias, we can analyze simultaneously several clinical DNA samples with low cost and can obtain sufficient read numbers to detect a low level of somatic mosaic mutations.

  20. Concurrent medical conditions among pregnant women - ignore at their peril: report from an antenatal anesthesia clinic.

    Science.gov (United States)

    Weiniger, Carolyn F; Einav, Sharon; Elchalal, Uriel; Ozerski, Vladislav; Shatalin, Daniel; Ioscovich, Alexander; Ginosar, Yehuda

    2018-03-19

    Care of pregnant women with concurrent medical conditions can be optimized by multidisciplinary antenatal management. In the current study we describe women with concurrent medical conditions who attended our antenatal anesthesia clinic over a 14-year period, 2002-2015 and, based on the findings, we suggest new policies, strategies and practices to improve antenatal care. In 2002, an antenatal anesthesia clinic was established in Hadassah Medical Center. Each consultation focused on the concurrent medical condition. A written anesthesia strategy according to the medical condition and its anesthesia considerations was discussed and given to the patient. Data regarding clinic visits were recorded. A total of 451 clinic women attended the antenatal anesthesia clinic. Maternal age was 31.7 ± 6.0 years (mean ± SD), with gestational age of pregnancy 33.0 ± 5.4 weeks at the clinic visit. Musculoskeletal conditions (23% of all the women seen) were the most frequent concurrent conditions, followed by anesthesia related concerns 20%, neurologic conditions 19%, and cardiac conditions 15%. Women were provided plans that were deliberated carefully rather than being concocted during labor. A wide range of concurrent medical conditions was seen in the antenatal anesthesia clinic, however fewer women attended the clinic than expected according to known population frequencies of concurrent medical conditions. Women with concurrent medical conditions should have labor and anesthesia plans considered during the nine months of pregnancy, prior to delivery, and hospitals should have a means of obtaining this information in a timely manner. Finally, there is a need to develop additional antenatal anesthesia clinics.

  1. 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

  2. Experience from mental health clinics held during medical service camps in Fiji.

    Science.gov (United States)

    Sivakumaran, Hemalatha; George, Kuruvilla; Naker, Gunu; Nadanachandran, Kathir

    2015-12-01

    We aim to describe the experience and findings of mental health clinics held during medical service camps in the rural settings of Fiji. Descriptive data collated at the end of the medical camps across 2011-2014 are used to highlight the main findings. The exposure to mental health assessments and brief interventions at these camps was a validating experience for both individuals and medical students attending the clinics. The most common presentations can be categorised under symptoms of depression, anxiety and relationship problems. The accessibility of mental health support services is a challenge in Fiji. Medical service camps can form an important pathway in promoting mental health awareness, especially amongst the rural communities of Fiji, and a useful platform for medical students to acquire some clinical exposure. © The Royal Australian and New Zealand College of Psychiatrists 2015.

  3. Medical management of radiological accidents in non-specialized clinics: mistakes and lessons

    International Nuclear Information System (INIS)

    Jikia, D.

    2009-01-01

    In 1996-2002 three radiological accidents were developed in Georgia. There were some people injured in those accidents. During medical management of the injured some mistakes and errors were revealed both in diagnostics and scheme of the treatment. The goal of this article is to summarize medical management of the mentioned radiological accidents, to estimate reasons of mistakes and errors, to present the lessons drawn in result of Georgia radiological accidents. There was no clinic with specialized profile and experience. Accordingly due to having no relevant experience late diagnosis can be considered as the main error. It had direct influence on the patients' health and results of treatment. Lessons to be drawn after analyzing Georgian radiological accidents: 1. informing medical staff about radiological injuries (pathogenesis, types, symptoms, clinical course, principles of treatment and etc.); 2. organization of training and meetings in non-specialized clinics or medical institutions for medical staff; 3. preparation of informational booklets and guidelines.(author)

  4. Optimisation of the radiation shielding of medical cyclotrons using a genetic algorithm

    International Nuclear Information System (INIS)

    Mukherjee, Bhaskar

    2000-01-01

    Effective radiation shielding is imperative for safe operation of modern Medical Cyclotrons producing large activities of short-lived radioisotopes on a commercial basis. The optimal cyclotron shielding design demands a careful balance between the radiological, economical and often the sociopolitical factors. One is required to optimize the cost of radiation protection and the cost of radiological-health detriment. The cost of radiation protection depends explicitly on a) the nature of the radiation field produced by the cyclotron, b) the cyclotron operation condition, c) the cost of shielding material, d) the level of dose reduction, e) the projected net revenue from the sale of the radioisotopes, and f) the depreciation rate of the cyclotron facility. The Genetic Algorithm (GA) is used for a cost -benefit analysis of this problem. The GA is a mathematical technique that emulates the Darwinian Evolution paradigm. It is ideally suited to search for a global optimum in a large multi-dimensional solution space, having demonstrated strength compared to the classical analytical methods. Furthermore the GA method runs on a PC in a Windows environment. This paper highlights an interactive spreadsheet macro program for the cost benefit analysis of the optimize Medical Cyclotron shielding using a GA search engine. (author)

  5. A biography and bibliography: the recent trends in bioethics and medical genetics in Japan (Part II).

    Science.gov (United States)

    Fujiki, N

    2000-01-01

    At the present, we have much misunderstandings and prejudices, connected with psychological conflicts for the direct application of cloning and of prenatal diagnosis and selective abortion. So that we should have much debates among general public on further direction of these researchs, in order to study on safe-guard and public understandings. Summarinzingly, in order to educate general public in their understanding of ELSI problems, we should remove the boundaries between individuals, in professional and non-professional fields, and in developed and developing countries, and give more time for medical curriculum for medical genetics and bioethics, in order to educate general public, as well as scientific responsibility in our society. Finally, we hope these recommendations and reports will help the International Bioethics Seminars in Fuki on 2000 for the follow up study on Universial Declaration of Human Genome and Rights, with new technologies on pharmacogenomics DNA polymorphisms as well as our ethical debates on international research ethics, proposed at the International Bioethics Summit.

  6. 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 (pbenefits of using hybrid image processing and ML-based computer-aided diagnostics for identifying facial phenotypes. Copyright © 2014. Published by Elsevier B.V.

  7. Psychosocial and Clinical Factors Associated with Family Communication of Cancer Genetic Test Results among Women Diagnosed with Breast Cancer at a Young Age.

    Science.gov (United States)

    Elrick, Ashley; Ashida, Sato; Ivanovich, Jennifer; Lyons, Sarah; Biesecker, Barbara B; Goodman, Melody S; Kaphingst, Kimberly A

    2017-02-01

    Genetic test results have medical implications beyond the patient that extend to biological family members. We examined psychosocial and clinical factors associated with communication of genetic test results within families. Women (N = 1080) diagnosed with breast cancer at age 40 or younger completed an online survey; 920 women that reported prior cancer genetic testing were included in analysis. We examined the proportion of immediate family members to whom they communicated genetic test results, and built multivariable regression models to examine clinical and psychosocial variables associated with the proportion score. Participants were most likely to communicate test results to their mother (83 %) and least likely to their son (45 %). Participants who carried a BRCA mutation (OR = 1.34; 95 % CI = 1.06, 1.70), had higher interest in genomic information (OR = 1.55; 95 % CI = 1.26, 1.91) and lower genetic worry (OR = 0.91; 95 % CI = 0.86, 0.96) communicated genetic test results to a greater proportion of their immediate family members. Participants with a BRCA1/2 mutation shared their genetic test results with more male family members (OR = 1.72; 95 % CI = 1.02, 2.89). Our findings suggest that patients with high worry about genetic risks, low interest in genomic information, or receive a negative genetic test result will likely need additional support to encourage family communication.

  8. Utilizing three years of epidemiological data from medical missions in Cambodia to shape the mobile medical clinic formulary

    Directory of Open Access Journals (Sweden)

    Jeany Kim Jun

    2017-01-01

    Full Text Available Objective: The purpose of this project was to gather epidemiological data on common diseases and medications dispensed during medical mission trips to Cambodia to shape the mobile medical clinic formulary. Methods: Data for patients seen during week-long mobile medical clinics was collected in Cambodia during Septembers 2012 to 2014. Each patient’s gender, age, weight, blood pressure, glucose, pertinent laboratory values, diagnoses, and medications dispensed were collected. Blood pressure and glucose levels were measured in patients 18 years and above. Data collected onto paper intake forms were transferred onto spreadsheets without patient identifying information and analyzed for aggregate means, common diseases, and most dispensed medications. This project received institutional review board approval. Results: A total of 1,015 patients were seen over three years. Women made up 61.4%, and the mean age was 41.8 years. The most common diagnosis was gastrointestinal disorders (22.9% that included gastroesophageal reflux disease and intestinal parasites. Next, 20.1% of patients had hypertension (BP>140/90, 18.0% had presbyopia, 15.4% had back and joint pain, followed by 8.8% with headache, including migraines. Approximately 8.4% of patients had hyperglycemia (RPG >140 mg/dl. The top five medications dispensed were acetaminophen, omeprazole, multivitamin, ibuprofen, and metformin. For hypertension, amlodipine and lisinopril were dispensed. Conclusion: Cambodia lacks systematic public health collection of epidemiological data for prevalence of diseases. Hence, investigators collected and analyzed information from week-long mobile medical clinics over three years. Proton-pump inhibitors and H. pylori lab tests were recommended for gastrointestinal disorders. Acetaminophen and ibuprofen were recommended for pain. Angiotensin-converting-enzyme inhibitors and dihydropyridine calcium channel blockers were recommended over diuretics since patients were

  9. Implementation of a pharmacist-managed heart failure medication titration clinic.

    Science.gov (United States)

    Martinez, Amanda S; Saef, Jerold; Paszczuk, Anna; Bhatt-Chugani, Hetal

    2013-06-15

    The development, implementation, and initial results of a pharmacist-managed heart failure (HF) medication titration clinic are described. In a quality-improvement initiative at a Veterans Affairs health care system, clinical pharmacists were incorporated into the hospital system's interprofessional outpatient HF clinic. In addition, a separate pharmacist-managed HF medication titration clinic was established, in which pharmacists were granted an advanced scope of practice and prescribing privileges, enabling them to initiate and adjust medication dosages under specific protocols jointly established by cardiology and pharmacy staff. Pharmacists involved in the titration clinic tracked patients' daily body weight, vital signs, and volume status using telephone-monitoring technology and via patient interviews. A retrospective chart review comparing achievement of target doses of angiotensin-converting enzyme inhibitor (ACEI), angiotensin-receptor blocker (ARB), and β-blocker therapies in a group of patients (n = 28) whose dosage titrations were carried out by nurses or physicians prior to implementation of the pharmacist-managed HF medication titration clinic and a group of patients (n = 27) enrolled in the medication titration clinic during its first six months of operation indicated that target ACEI and ARB doses were achieved in a significantly higher percentage of pharmacist-managed titration clinic enrollees (52.9% versus 31%, p = 0.007). Patients enrolled in the pharmacist-managed HF medication titration clinic also had a significantly higher rate of attainment of optimal β-blocker doses (49% versus 24.7%, p = 0.012). Implementation of a pharmacist-managed HF medication titration clinic increased the percentage of patients achieving optimal ACEI, ARB, and β-blocker dosages.

  10. The effect of a clinical pharmacist discharge service on medication discrepancies in patients with heart failure

    NARCIS (Netherlands)

    R.N. Eggink; A.W. Lenderink (Albert); J.W. Widdershoven (Jos); P.M.L.A. van den Bemt (Patricia)

    2010-01-01

    textabstractObjective: Heart failure patients are regularly admitted to hospital and frequently use multiple medication. Besides intentional changes in pharmacotherapy, unintentional changes may occur during hospitalisation. The aim of this study was to investigate the effect of a clinical

  11. Moral maps and medical imaginaries: clinical tourism at Malawi's College of Medicine.

    Science.gov (United States)

    Wendland, Claire L

    2012-01-01

    At an understaffed and underresourced urban African training hospital, Malawian medical students learn to be doctors while foreign medical students, visiting Malawi as clinical tourists on short-term electives, learn about “global health.” Scientific ideas circulate fast there; clinical tourists circulate readily from outside to Malawi but not the reverse; medical technologies circulate slowly, erratically, and sometimes not at all. Medicine's uneven globalization is on full display. I extend scholarship on moral imaginations and medical imaginaries to propose that students map these wards variously as places in which—or from which—they seek a better medicine. Clinical tourists, enacting their own moral maps, also become representatives of medicine “out there”: points on the maps of others. Ethnographic data show that for Malawians, clinical tourists are colleagues, foils against whom they construct ideas about a superior and distinctly Malawian medicine and visions of possible alternative futures for themselves.

  12. The effect of an interprofessional clinical simulation on medical ...

    African Journals Online (AJOL)

    2014-05-04

    May 4, 2014 ... with a safe, structured and supportive environment that links the lecture room and clinical practice. .... Leadership. They reflected on the need to clearly delegate work and direct team members.[9]. 'In the beginning there was no leader … no one took the initiative to start the whole thing.' 'I have learned how ...

  13. Consumption of psychiatric drugs by patients of medical and surgical clinics in a general hospital

    OpenAIRE

    Shirama,Flavio Hiroshi; Miasso,Adriana Inocenti

    2013-01-01

    PURPOSES: to identify the prevalence of the use of psychiatric drugs among patients admitted to medical and surgical clinics of a general hospital, and also the factors related to the consumption of this type of medication. METHOD: this is a transversal, descriptive, correlational study with quantitative analysis. For the collection of data, there was use of structured interviews and also reference to medical files. RESULTS: there was confirmation of a high prevalence of users of psy...

  14. Clinical diagnostic system using a small cyclotron for medical use

    International Nuclear Information System (INIS)

    Yonekura, Y.; Magata, Y.; Konishi, J.

    1990-01-01

    Since a small cyclotron and a positron emission tomography (PET) scanner have been installed at the Kyoto University Hospital in 1983, a great deal of effort has been directed to the clinical application of the PET-cyclotron system. This paper outlines the experience with PET in the clinical setting, including the facility, equipments and staff involved, weekly schedule, typical clinical protocols, and some results from the patients. The system consists of small cyclotron for production of the short-lived positron emitting radionuclides, fully automated synthesis system for labeling various compounds, scanning for measurement of radioactivities, and data analysis system for calculating physiological parameters. A resolving cylinder target system with eight smaller cylinders is equipped for production of C-11, N-13, O-15, and F-18. Labeled compounds are quickly delivered to the PET scanner room by two systems--the continuous delivery system for the labeled gas and the rapid delivery system for the liquid compounds by compressed air. A PET scanner devoted for clinical studies is a multislice whole-body PET scanner. Ten PET studies are performed weekly on the average for measuring blood flow and oxygen and glucose metabolism in the brain, blood flow and glucose and fatty acid metabolism in the heart, blood flow and amino acid uptake in the pancreas, lung ventilation, and tumor glucose metabolism. The availability of PET-cyclotron system is still limited in view of cost. The previous clinical studies suggest the contribution of PET to the the understanding of the mechanism of disease pathophysiology. (N.K.)

  15. Dermatology Medical Education: A Multicenter Survey Study of the Undergraduate Perspective of the Dermatology Clinical Clerkship.

    Science.gov (United States)

    Davari, Parastoo; Millsop, Jillian W; Johnson, Mary Ann N; Takahashi, Stefani R; Peng, David H; Badger, Joanna; Bahr, Brooks A; Shinkai, Kanade; Li, Chin-Shang; Fazel, Nasim

    2017-12-15

    Limited data are available regarding the undergraduate dermatology clinical clerkship curriculum in the United States. Our primaryaim is to assess medical students' perspectives of the dermatology clinical clerkship. A multicenter survey study was conducted, which included four California dermatology academic programs. A 17-item questionnaire was designed to investigate medical student perception with regard tothe overall educational value of the various teaching aspects of the dermatology clinical clerkship. A total of 152 medical student surveys were completed. Over half of the medical students felt proficient in diagnosing the most commondermatologic conditions. Eighty-seven percent of medical students were very satisfied with the dermatology clerkship. Ninety-one percent of students felt the length of the clerkship was appropriate. The vast majority of medical students reported a high level of proficiency in the treatment and diagnosis of common skin disorders. In contrast, our findings suggest that medical students may not begaining sufficient hands-on experience in conducting certain dermatologic procedures following the dermatology clerkship. Overall, medical studentperception of the dermatology clinical clerkship was mostly positive.

  16. Factors Influencing Electronic Clinical Information Exchange in Small Medical Group Practices

    Science.gov (United States)

    Kralewski, John E.; Zink, Therese; Boyle, Raymond

    2012-01-01

    Purpose: The purpose of this study was to identify the organizational factors that influence electronic health information exchange (HIE) by medical group practices in rural areas. Methods: A purposive sample of 8 small medical group practices in 3 experimental HIE regions were interviewed to determine the extent of clinical information exchange…

  17. What Students Really Learn: Contrasting Medical and Nursing Students' Experiences of the Clinical Learning Environment

    Science.gov (United States)

    Liljedahl, Matilda; Boman, Lena Engqvist; Fält, Charlotte Porthén; Bolander Laksov, Klara

    2015-01-01

    This paper explores and contrasts undergraduate medical and nursing students' experiences of the clinical learning environment. Using a sociocultural perspective of learning and an interpretative approach, 15 in-depth interviews with medical and nursing students were analysed with content analysis. Students' experiences are described using a…

  18. Genetic drift. The real tiger mother: from the clinical geneticist's perspective.

    Science.gov (United States)

    Shur, Natasha

    2011-09-01

    The Battle Hymn of the Tiger Mother by Amy Chua raises questions about motherhood and what is admirable. Chua promotes strict, Old World, uncompromising values stressing academic performance above all, insisting on drilling and practice, and instilling respect for authority. As clinical geneticists, we meet an entirely different type of mother than Chua, the clinical genetics mother who fights illnesses, schools, hospital policies, and insurance companies. She battles not against her child but for her child. With brilliance and resilience, she creates a child-centered world. The stories of four clinical genetics mothers rally us to reject extreme parenting and appreciate the simple joys of childhood. Copyright © 2011 Wiley-Liss, Inc.

  19. Clinical Application of Epilepsy Genetics in Africa: Is Now the Time?

    Directory of Open Access Journals (Sweden)

    Alina I. Esterhuizen

    2018-05-01

    Full Text Available Over 80% of people with epilepsy live in low- to middle-income countries where epilepsy is often undiagnosed and untreated due to limited resources and poor infrastructure. In Africa, the burden of epilepsy is exacerbated by increased risk factors such as central nervous system infections, perinatal insults, and traumatic brain injury. Despite the high incidence of these etiologies, the cause of epilepsy in over 60% of African children is unknown, suggesting a possible genetic origin. Large-scale genetic and genomic research in Europe and North America has revealed new genes and variants underlying disease in a range of epilepsy phenotypes. The relevance of this knowledge to patient care is especially evident among infants with early-onset epilepsies, where early genetic testing can confirm the diagnosis and direct treatment, potentially improving prognosis and quality of life. In Africa, however, genetic epilepsies are among the most under-investigated neurological disorders, and little knowledge currently exists on the genetics of epilepsy among African patients. The increased diversity on the continent may yield unique, important epilepsy-associated genotypes, currently absent from the North American or European diagnostic testing protocols. In this review, we propose that there is strong justification for developing the capacity to offer genetic testing for children with epilepsy in Africa, informed mostly by the existing counseling and interventional needs. Initial simple protocols involving well-recognized epilepsy genes will not only help patients but will give rise to further clinically relevant research, thus increasing knowledge and capacity.

  20. Identification of the genetic and clinical characteristics of neuroblastomas using genome-wide analysis.

    Science.gov (United States)

    Uryu, Kumiko; Nishimura, Riki; Kataoka, Keisuke; Sato, Yusuke; Nakazawa, Atsuko; Suzuki, Hiromichi; Yoshida, Kenichi; Seki, Masafumi; Hiwatari, Mitsuteru; Isobe, Tomoya; Shiraishi, Yuichi; Chiba, Kenichi; Tanaka, Hiroko; Miyano, Satoru; Koh, Katsuyoshi; Hanada, Ryoji; Oka, Akira; Hayashi, Yasuhide; Ohira, Miki; Kamijo, Takehiko; Nagase, Hiroki; Takimoto, Tetsuya; Tajiri, Tatsuro; Nakagawara, Akira; Ogawa, Seishi; Takita, Junko

    2017-12-08

    To provide better insight into the genetic signatures of neuroblastomas, we analyzed 500 neuroblastomas (included specimens from JNBSG) using targeted-deep sequencing for 10 neuroblastoma-related genes and SNP arrays analysis. ALK expression was evaluated using immunohistochemical analysis in 259 samples. Based on genetic alterations, the following 6 subgroups were identified: groups A ( ALK abnormalities), B (other gene mutations), C ( MYCN amplification), D (11q loss of heterozygosity [LOH]), E (at least 1 copy number variants), and F (no genetic changes). Groups A to D showed advanced disease and poor prognosis, whereas groups E and F showed excellent prognosis. Intriguingly, in group A, MYCN amplification was not a significant prognostic marker, while high ALK expression was a relevant indicator for prognosis ( P = 0.033). Notably, the co-existence of MYCN amplification and 1p LOH, and the co-deletion of 3p and 11q were significant predictors of relapse ( P = 0.043 and P = 0.040). Additionally, 6q/8p LOH and 17q gain were promising indicators of survival in patients older than 5 years, and 1p, 4p, and 11q LOH potentially contributed to outcome prediction in the intermediate-risk group. Our genetic overview clarifies the clinical impact of genetic signatures and aids in the better understanding of genetic basis of neuroblastoma.

  1. Clinical and prognostic significance of genetic factors in recurrent in-vitro fertilization failures

    Directory of Open Access Journals (Sweden)

    Zeynep Ocak

    2013-09-01

    Full Text Available In 1978, a new era has started in the treatment of infertility by the birth of the first baby from a pregnancy achieved by in-vitro fertilization. Following this, healthy pregnancies have been achieved by assisted reproductive techniques such as in-vitro fertilization by an important percentage of the childless couples. Despite all developments in assisted reproductive techniques, pregnancy rates haven’t increased as expected, and unfortunately the rate of implantation success of transferred embryos remained at low levels (15%. Similar to recurrent pregnancy loss in which the etiology is not clear yet and the causes are probably multifactorial, evaluation of patients with recurrent implantation failure is difficult and complex. Genetic risk factors such as genomic rearrangements in the couples and the embryo, sperm DNA damage and imprinting defects have been considered among the causes of recurrent implantation failure. Genetic screening is an integral part of providing good medical care of patients and families receiving a diagnosis of a genetic disorder. The aim of preconceptional genetic screening is to asses the fertility, to be able to increase succes rate of infertility treatments and to detect the healthy carriers who may have a baby with the risk of fatal and/or multiple congenital anomalies. In this review, possible genetic factors associated with recurrent implantation failure are discussed in the light of the current literature.

  2. Clinical pharmacist’s contribution to medication reconciliation on admission to hospital in Ireland

    LENUS (Irish Health Repository)

    Galvin, Mairead

    2012-10-08

    Background Medication reconciliation has been mandated by the Irish government at transfer of care. Research is needed to determine the contribution of clinical pharmacists to the process. Objective To describe the contribution of emergency department based clinical pharmacists to admission medication reconciliation in Ireland. Main Outcome Measure Frequency of clinical pharmacist\\'s activities. Setting Two public university teaching hospitals. Methodology Adults admitted via the accident and emergency department, from a non-acute setting, reporting the use of at least three regular prescription medications, were eligible for inclusion. Medication reconciliation was provided by clinical pharmacists to randomly-selected patients within 24-hours of admission. This process includes collecting a gold-standard pre-admission medication list, checking this against the admission prescription and communicating any changes. A discrepancy was defined as any difference between the gold-standard pre-admission medication list and the admission prescription. Discrepancies were communicated to the clinician in the patient\\'s healthcare record. Potentially harmful discrepancies were also communicated verbally. Pharmacist activities and unintentional discrepancies, both resolved and unresolved at 48-hours were measured. Unresolved discrepancies were confirmed verbally by the team as intentional or unintentional. A reliable and validated tool was used to assess clinical significance by medical consultants, clinical pharmacists, community pharmacists and general practitioners. Results In total, 134 patients, involving 1,556 medications, were included in the survey. Over 97 % of patients (involving 59 % of medications) experienced a medication change on admission. Over 90 % of patients (involving 29 % of medications) warranted clinical pharmacy input to determine whether such changes were intentional or unintentional. There were 447 interventions by the clinical pharmacist regarding

  3. 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.

  4. A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

    Directory of Open Access Journals (Sweden)

    Sanjeev Rajakulendran

    Full Text Available Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. The mechanism by which this single genetic defect results in such clinical diversity remains unclear. In this study we evaluate the clinical, neuropathological and mitochondrial genetic features of four unrelated patients with homozygous A467T mutations. One patient presented with the severe and lethal Alpers-Huttenlocher syndrome, which was confirmed on neuropathology, and was found to have a depletion of mitochondrial DNA (mtDNA. Of the remaining three patients, one presented with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS, one with a phenotype in the Myoclonic Epilepsy, Myopathy and Sensory Ataxia (MEMSA spectrum and one with Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoplegia (SANDO. All three had secondary accumulation of multiple mtDNA deletions. Complete sequence analysis of muscle mtDNA using the MitoChip resequencing chip in all four cases demonstrated significant variation in mtDNA, including a pathogenic MT-ND5 mutation in one patient. These data highlight the variable and overlapping clinical and neuropathological phenotypes and downstream molecular defects caused by the A467T mutation, which may result from factors such as the mtDNA genetic background, nuclear genetic modifiers and environmental stressors.

  5. Medical Student Perceptions of the Learning Environment in Medical School Change as Students Transition to Clinical Training in Undergraduate Medical School.

    Science.gov (United States)

    Dunham, Lisette; Dekhtyar, Michael; Gruener, Gregory; CichoskiKelly, Eileen; Deitz, Jennifer; Elliott, Donna; Stuber, Margaret L; Skochelak, Susan E

    2017-01-01

    Phenomenon: The learning environment is the physical, social, and psychological context in which a student learns. A supportive learning environment contributes to student well-being and enhances student empathy, professionalism, and academic success, whereas an unsupportive learning environment may lead to burnout, exhaustion, and cynicism. Student perceptions of the medical school learning environment may change over time and be associated with students' year of training and may differ significantly depending on the student's gender or race/ethnicity. Understanding the changes in perceptions of the learning environment related to student characteristics and year of training could inform interventions that facilitate positive experiences in undergraduate medical education. The Medical School Learning Environment Survey (MSLES) was administered to 4,262 students who matriculated at one of 23 U.S. and Canadian medical schools in 2010 and 2011. Students completed the survey at the end of each year of medical school as part of a battery of surveys in the Learning Environment Study. A mixed-effects longitudinal model, t tests, Cohen's d effect size, and analysis of variance assessed the relationship between MSLES score, year of training, and demographic variables. After controlling for gender, race/ethnicity, and school, students reported worsening perceptions toward the medical school learning environment, with the worst perceptions in the 3rd year of medical school as students begin their clinical experiences, and some recovery in the 4th year after Match Day. The drop in MSLES scores associated with the transition to the clinical learning environment (-0.26 point drop in addition to yearly change, effect size = 0.52, p effect size = 0.14, p work-life balance and informal student relationships. There was some, but not complete, recovery in perceptions of the medical school learning environment in the 4th year. Insights: Perceptions of the medical school learning

  6. Integration of genetic and clinical risk factors improves prognostication in relapsed childhood B-cell precursor acute lymphoblastic leukemia

    NARCIS (Netherlands)

    Irving, J.A.; Enshaei, A.; Parker, C.A.; Sutton, R.; Kuiper, R.P.; Erhorn, A.; Minto, L.; Venn, N.C.; Law, T.; Yu, J.; Schwab, C.; Davies, R.; Matheson, E.; Davies, A.; Sonneveld, E.; Boer, M.L. Den; Love, S.B.; Harrison, C.J.; Hoogerbrugge, P.M.; Revesz, T.; Saha, V.; Moorman, A.V.

    2016-01-01

    Somatic genetic abnormalities are initiators and drivers of disease and have proven clinical utility at initial diagnosis. However, the genetic landscape and its clinical utility at relapse are less well understood and have not been studied comprehensively. We analyzed cytogenetic data from 427

  7. Integration of genetic and clinical risk factors improves prognostication in relapsed childhood B-cell precursor acute lymphoblastic leukemia

    NARCIS (Netherlands)

    J. Irving (Julie); A. Enshaei; Parker, C.A. (Catriona A.); R. Sutton; R. Kuiper (Ruud); Erhorn, A. (Amy); L. Minto (L.); N. Venn; T. Law (T.); Yu, J. (Jiangyan); C. Schwab (Claire); Davies, R. (Rosanna); Matheson, E. (Elizabeth); Davies, A. (Alysia); E. Sonneveld (Edwin); M.L. den Boer (Monique); Love, S.B. (Sharon B.); C.J. Harrison (Christine); P.M. Hoogerbrugge (Peter); T. Revesz (Tamas); V. Saha (Vaskar); A.V. Moorman (Anthony)

    2016-01-01

    textabstractSomatic genetic abnormalities are initiators and drivers of disease and have proven clinical utility at initial diagnosis. However, the genetic landscape and its clinical utility at relapse are less well understood and have not been studied comprehensively. We analyzed cytogenetic data

  8. Autism and genetics: Clinical approach and association study with two markers of HRAS gene

    Energy Technology Data Exchange (ETDEWEB)

    Herault, J.; Petit, E.; Cherpi, C. [Laboratoire de Biochimie Medicale, Tours (France)] [and others

    1995-08-14

    Twin studies and familial aggregation studies indicate that genetic factors could play a role in infantile autism. In an earlier study, we identified a possible positive association between autism and a c-Harvey-ras (HRAS) oncogene marker at the 3{prime} end of the coding region. In an attempt to confirm this finding, we studied a larger population, well-characterized clinically and genetically. We report a positive association between autism and two HRAS markers, the 3{prime} marker used in the initial study and an additional marker in exon 1. 46 refs., 1 fig., 2 tabs.

  9. Evaluation of medication treatment for Alzheimer's disease on clinical evidence

    Directory of Open Access Journals (Sweden)

    Meng-qiu LI

    2014-03-01

    Full Text Available Objective To formulate the best treatment plan for Alzheimer's disease patients by evaluating the therapeutic efficacy and side effect of various evidence-based programs. Methods Alzheimer's disease, donepezil, rivastigmine, galantamine, memantine, rosiglitazone, etc. were defined as retrieval words. PubMed, Cochrane Library, Wanfang Data and China National Knowledge Infrastructure (CNKI databases were used with applying of manual searching. Systematic reviews, randomized controlled trials (RCT, controlled clinical trials and case-observation studies were collected and evaluated by Jadad Scale. Results After screening, 33 selected resources included 14 systematic reviews, 14 randomized controlled trials, 4 controlled clinical trials and 1 case-observation study. According to Jadad Scale, total 28 articles were evaluated to be high quality (12 with score 4, 10 score 5, 6 score 7, and 5 were low quality with score 3. It was summarized as follows: 1 Alzheimer's disease is a progressive neurodegenerative disease for which no cure exists. To date, only symptomatic treatments with cholinesterase inhibitors (donepezil, rivastigmine, galantamine and an N-methyl-D-aspartate (NMDA receptor noncompetitive antagonist (memantine, are effective and well tolerated to counterbalance the neurotransmitter disturbance, but cannot limit or impact on disease progression. 2 Disease modifying drug is an potential agent, with persistent effect on slowing the progression of structural damage, and can be detected even after withdrawing the treatment. Many types of disease modifying drugs are undergoing clinical trials. Conclusions Using evidence-based medicine methods can provide best clinical evidence on Alzheimer's disease treatment. doi: 10.3969/j.issn.1672-6731.2014.03.009

  10. Current challenges for clinical trials of cardiovascular medical devices.

    Science.gov (United States)

    Zannad, Faiez; Stough, Wendy Gattis; Piña, Ileana L; Mehran, Roxana; Abraham, William T; Anker, Stefan D; De Ferrari, Gaetano M; Farb, Andrew; Geller, Nancy L; Kieval, Robert S; Linde, Cecilia; Redberg, Rita F; Stein, Kenneth; Vincent, Alphons; Woehrle, Holger; Pocock, Stuart J

    2014-07-15

    Several features of cardiovascular devices raise considerations for clinical trial conduct. Prospective, randomized, controlled trials remain the highest quality evidence for safety and effectiveness assessments, but, for instance, blinding may be challenging. In order to avoid bias and not confound data interpretation, the use of objective endpoints and blinding patients, study staff, core labs, and clinical endpoint committees to treatment assignment are helpful approaches. Anticipation of potential bias should be considered and planned for prospectively in a cardiovascular device trial. Prospective, single-arm studies (often referred to as registry studies) can provide additional data in some cases. They are subject to selection bias even when carefully designed; thus, they are generally not acceptable as the sole basis for pre-market approval of high risk cardiovascular devices. However, they complement the evidence base and fill the gaps unanswered by randomized trials. Registry studies present device safety and effectiveness in day-to-day clinical practice settings and detect rare adverse events in the post-market period. No single research design will be appropriate for every cardiovascular device or target patient population. The type of trial, appropriate control group, and optimal length of follow-up will depend on the specific device, its potential clinical benefits, the target patient population and the existence (or lack) of effective therapies, and its anticipated risks. Continued efforts on the part of investigators, the device industry, and government regulators are needed to reach the optimal approach for evaluating the safety and performance of innovative devices for the treatment of cardiovascular disease. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  11. Who are medical marijuana patients? Population characteristics from nine California assessment clinics.

    Science.gov (United States)

    Reinarman, Craig; Nunberg, Helen; Lanthier, Fran; Heddleston, Tom

    2011-01-01

    Marijuana is a currently illegal psychoactive drug that many physicians believe has substantial therapeutic uses. The medical literature contains a growing number of studies on cannabinoids as well as case studies and anecdotal reports suggesting therapeutic potential. Fifteen states have passed medical marijuana laws, but little is known about the growing population of patients who use marijuana medicinally. This article reports on a sample of 1,746 patients from a network of nine medical marijuana evaluation clinics in California. Patients completed a standardized medical history form; evaluating physicians completed standardized evaluation forms. From this data we describe patient characteristics, self-reported presenting symptoms, physician evaluations, other treatments tried, other drug use, and medical marijuana use practices. Pain, insomnia, and anxiety were the most common conditions for which evaluating physicians recommended medical marijuana. Shifts in the medical marijuana patient population over time, the need for further research, and the issue of diversion are discussed.

  12. Hopes and Expectations Regarding Genetic Testing for Schizophrenia Among Young Adults at Clinical High-Risk for Psychosis.

    Science.gov (United States)

    Friesen, Phoebe; Lawrence, Ryan E; Brucato, Gary; Girgis, Ragy R; Dixon, Lisa

    2016-11-01

    Genetic tests for schizophrenia could introduce both risks and benefits. Little is known about the hopes and expectations of young adults at clinical high-risk for psychosis concerning genetic testing for schizophrenia, despite the fact that these youth could be among those highly affected by such tests. We conducted semistructured interviews with 15 young adults at clinical high-risk for psychosis to ask about their interest, expectations, and hopes regarding genetic testing for schizophrenia. Most participants reported a high level of interest in genetic testing for schizophrenia, and the majority said they would take such a test immediately if it were available. Some expressed far-reaching expectations for a genetic test, such as predicting symptom severity and the timing of symptom onset. Several assumed that genetic testing would be accompanied by interventions to prevent schizophrenia. Participants anticipated mixed reactions on finding out they had a genetic risk for schizophrenia, suggesting that they might feel both a sense of relief and a sense of hopelessness. We suggest that genetic counseling could play an important role in counteracting a culture of genetic over-optimism and helping young adults at clinical high-risk for psychosis understand the limitations of genetic testing. Counseling sessions could also invite individuals to explore how receiving genetic risk information might impact their well-being, as early evidence suggests that some psychological factors help individuals cope, whereas others heighten distress related to genetic test results.

  13. EM-GE-5 Regulation. Standard for the first-rate application clinical practices in the execution of the clinical investigations for medical teams' evaluation

    International Nuclear Information System (INIS)

    2015-01-01

    This guide has the following objectives: a) To guide methodologically the implementation of Good Clinical Practice for the execution of clinical research with medical devices that need to be evaluated, in addition to the Regulation E R-6. Requirements for the Conduct of Clinical Trials for Medical Devices , b) Provide the fundamental aspects to be taken into count for quality control to clinical investigations.

  14. Medical specialty selection criteria of Israeli medical students early in their clinical experience: subgroups.

    Science.gov (United States)

    Avidan, Alexander; Weissman, Charles; Elchalal, Uriel; Tandeter, Howard; Zisk-Rony, Rachel Yaffa

    2018-04-18

    Israeli medical school classes include a number of student subgroups. Therefore, interventions aimed at recruiting medical students to the various specialties should to be tailored to each subgroup. Questionnaires, distributed to 6 consecutive 5th-year classes of the Hebrew University - Hadassah School of Medicine, elicited information on criteria for choosing a career specialty, criteria for choosing a residency program and the importance of finding a specialty interesting and challenging when choosing a residency. Completed questionnaires were returned by 540 of 769 (70%) students. The decision processes for choosing a medical specialty and choosing a residency program were different. Family and colleagues had minimal influence on choosing a specialty, while family and their residential locality had much influence on choosing a residency, especially among women. Older age, marriage, and spousal influence were positively associated with choice of a specialty. Two-thirds of the students had completed military service, 20% were attending medical school prior to military service, 5% had completed national service and 9% had entered medical school without serving. Despite the pre-military subgroup being younger and having another 7 years of medical school, internship and military service before residency, they had begun thinking about which specialty to choose, just like the post-military students. When choosing a residency program, post-military women were more influenced by their families and family residential locality than their pre-military counterparts; differences ascribed to the older and often married post-military women having or wanting to begin families. This difference was reinforced by fewer post- than pre-military women willing to wait 2-3 years for a residency in the specialty that interested them most and were willing to begin residency immediately after internship in a specialty that interested them less. Medical school classes are composed of

  15. Genetic Alterations and Their Clinical Implications in High-Recurrence Risk Papillary Thyroid Cancer.

    Science.gov (United States)

    Lee, Min-Young; Ku, Bo Mi; Kim, Hae Su; Lee, Ji Yun; Lim, Sung Hee; Sun, Jong-Mu; Lee, Se-Hoon; Park, Keunchil; Oh, Young Lyun; Hong, Mineui; Jeong, Han-Sin; Son, Young-Ik; Baek, Chung-Hwan; Ahn, Myung-Ju

    2017-10-01

    Papillary thyroid carcinomas (PTCs) frequently involve genetic alterations. The objective of this study was to investigate genetic alterations and further explore the relationships between these genetic alterations and clinicopathological characteristics in a high-recurrence risk (node positive, N1) PTC group. Tumor tissue blocks were obtained from 240 surgically resected patients with histologically confirmed stage III/IV (pT3/4 or N1) PTCs. We screened gene fusions using NanoString's nCounter technology and mutational analysis was performed by direct DNA sequencing. Data describing the clinicopathological characteristics and clinical courses were retrospectively collected. Of the 240 PTC patients, 207 (86.3%) had at least one genetic alteration, including BRAF mutation in 190 patients (79.2%), PIK3CA mutation in 25 patients (10.4%), NTRK1/3 fusion in six patients (2.5%), and RET fusion in 24 patients (10.0%). Concomitant presence of more than two genetic alterations was seen in 36 patients (15%). PTCs harboring BRAF mutation were associated with RET wild-type expression (p=0.001). RET fusion genes have been found to occur with significantly higher frequency in N1b stage patients (p=0.003) or groups of patients aged 45 years or older (p=0.031); however, no significant correlation was found between other genetic alterations. There was no trend toward favorable recurrence-free survival or overall survival among patients lacking genetic alterations. In the selected high-recurrence risk PTC group, most patients had more than one genetic alteration. However, these known alterations could not entirely account for clinicopathological features of high-recurrence risk PTC.

  16. Clinical nutrition in medical gastroenterology: room for improvement

    DEFF Research Database (Denmark)

    Johansson, U.; Rasmussen, H.H.; Mowe, M.

    2009-01-01

    BACKGROUND & AIMS: Undernutrition is a problem in hospitals, with lack of nutritional routines. Recently, guidelines concerning the nutritional care process were developed from ESPEN. This study was conducted to assess the present status of nutritional routines among doctors and nurses in internal...... medicine (IM) and medical gastroenterology (MG), in comparison with the ESPEN guidelines. METHOD: A questionnaire-based investigation among doctors and nurses working in departments of internal medicine and gastroenterology in Scandinavia, based on further analysis of previous data. RESULTS: Overall, 4512...... (1753 doctors, 2759 nurses) answered the questionnaire, of which 1155 were from internal medicine and 193 from gastroenterology. A similar, non-significant, discrepancy in attitudes and nutritional routines was noted in gastroenterologists and internists. Concerning basic nutritional education, 46...

  17. Factors influencing stethoscope cleanliness among clinical medical students.

    Science.gov (United States)

    Saunders, C; Hryhorskyj, L; Skinner, J

    2013-07-01

    This study aims to identify current stethoscope hygiene habits and attitudes in a UK medical school setting. Students completed a questionnaire using Likert-scale questions and free-text answers. A total of 308 questionnaires were completed from a potential 750 students (41%); 22.4% of respondents had never cleaned their stethoscope and only 3.9% cleaned their stethoscope after every patient. Significant correlations were identified between cleaning frequency and: others acting as role models (P = 0.001), students having confidence in how to clean stethoscopes (P = 0.001), and students thinking cleaning was important (P = 0.01), thereby highlighting inadequate education and role models as potential problems. Copyright © 2013 The Healthcare Infection Society. Published by Elsevier Ltd. All rights reserved.

  18. Genetic counselors' views and experiences with the clinical integration of genome sequencing.

    Science.gov (United States)

    Machini, Kalotina; Douglas, Jessica; Braxton, Alicia; Tsipis, Judith; Kramer, Kate

    2014-08-01

    In recent years, new sequencing technologies known as next generation sequencing (NGS) have provided scientists the ability to rapidly sequence all known coding as well as non-coding sequences in the human genome. As the two emerging approaches, whole exome (WES) and whole genome (WGS) sequencing, have started to be integrated in the clinical arena, we sought to survey health care professionals who are likely to be involved in the implementation process now and/or in the future (e.g., genetic counselors, geneticists and nurse practitioners). Two hundred twenty-one genetic counselors- one third of whom currently offer WES/WGS-participated in an anonymous online survey. The aims of the survey were first, to identify barriers to the implementation of WES/WGS, as perceived by survey participants; second, to provide the first systematic report of current practices regarding the integration of WES/WGS in clinic and/or research across the US and Canada and to illuminate the roles and challenges of genetic counselors participating in this process; and third to evaluate the impact of WES/WGS on patient care. Our results showed that genetic counseling practices with respect to WES/WGS are consistent with the criteria set forth in the ACMG 2012 policy statement, which highlights indications for testing, reporting, and pre/post test considerations. Our respondents described challenges related to offering WES/WGS, which included billing issues, the duration and content of the consent process, result interpretation and disclosure of incidental findings and variants of unknown significance. In addition, respondents indicated that specialty area (i.e., prenatal and cancer), lack of clinical utility of WES/WGS and concerns about interpretation of test results were factors that prevented them from offering this technology to patients. Finally, study participants identified the aspects of their professional training which have been most beneficial in aiding with the integration of

  19. ["AGAINST ALL ODDS" - PROMOTING RESEARCH, CLINICAL DEVELOPMENT AND MEDICAL SERVICES OF THE CONFLICT IN THE GALILEE MEDICAL CENTER].

    Science.gov (United States)

    Bornstein, Jacob

    2017-05-01

    The Galilee Medical Center (GMC) is unique in several aspects. Firstly, in the clinical aspect: In recent years, led by the Director of Medical Center, Dr. Masad Barhoum, a considerable momentum of development has taken place to reduce health discrepancies between the center and the periphery. Despite the under- financing of the health system in the Galilee, the GMC opened new clinical departments, introduced advanced medical technology and key staff members were added. This approach is depicted in publications presented in the current issue. Secondly, the aspect of medicine standoff: The GMC is the nearest hospital to the border with neighboring countries. It is also a tertiary center for trauma, due to the establishment of the Department of Neurosurgery, Department of Oral and Maxillofacial Surgery and the Departments of Orthopedic Surgery, general invasive radiology and invasive radiology of the brain. In recent years, the medical center treated hundreds of victims of the civil war in Syria, a third of them - women and children. The injured patients presented unique medical problems that are described in the papers in this issue. Thirdly, the research aspect: The medical center is the main teaching facility of medical students of the Faculty of Medicine in the Galilee of Bar-Ilan University. The Faculty of Medicine, led by the Dean, Prof. Ran Tur-Kaspa, promotes research and teaching in the medical center. Even before the establishment of the Faculty of Medicine, former hospital director, Prof. Shaul Shasha, not only extolled the importance of research, but established a research laboratory years ago. The laboratory continues to pursue translational research by the physicians of the medical center, led by Dr. Shifra Sela and Prof. Batya Kristal, and supported by the current medical center director, Dr. Masad Barhoum. Several studies conducted in this research laboratory are published herewith. With these unique aspects and despite the discrimination in funding

  20. Clinical Training of Medical Physicists Specializing in Nuclear Medicine (Spanish Edition)

    International Nuclear Information System (INIS)

    2013-01-01

    The application of radiation in human health, for both diagnosis and treatment of disease, is an important component of the work of the IAEA. The responsibility for the increasingly technical aspects of this work is undertaken by the medical physicist. To ensure good practice in this vital area, structured clinical training programmes are required to complement academic learning. This publication is intended to be a guide to the practical implementation of such a programme for nuclear medicine. There is a general and growing awareness that radiation medicine is increasingly dependent on well trained medical physicists who are based in a clinical setting. However an analysis of the availability of medical physicists indicates a large shortfall of qualified and capable professionals. This is particularly evident in developing countries. While strategies to increase educational opportunities are critical to such countries, the need for guidance on structured clinical training was recognized by the members of the Regional Cooperative Agreement for Research, Development and Training related to Nuclear Science and Technology (RCA) for the Asia-Pacific region. Consequently, a technical cooperation regional project (RAS6038) under the RCA programme was formulated to address this need in this region by developing suitable material and establishing its viability. Development of a clinical training guide for medical physicists specialising in nuclear medicine was started in 2009 with the appointment of a core drafting committee of regional and international experts. The publication drew on the experience of clinical training in Australia, Croatia and Sweden and was moderated by physicists working in the Asian region. The present publication follows the approach of earlier IAEA publications in the Training Course Series, specifically Nos 37 and 47, Clinical Training of Medical Physicists Specializing in Radiation Oncology and Clinical Training of Medical Physicists

  1. Clinical Training of Medical Physicists Specializing in Nuclear Medicine (French Edition)

    International Nuclear Information System (INIS)

    2012-01-01

    The application of radiation in human health, for both diagnosis and treatment of disease, is an important component of the work of the IAEA. The responsibility for the increasingly technical aspects of this work is undertaken by the medical physicist. To ensure good practice in this vital area, structured clinical training programmes are required to complement academic learning. This publication is intended to be a guide to the practical implementation of such a programme for nuclear medicine. There is a general and growing awareness that radiation medicine is increasingly dependent on well trained medical physicists who are based in a clinical setting. However an analysis of the availability of medical physicists indicates a large shortfall of qualified and capable professionals. This is particularly evident in developing countries. While strategies to increase educational opportunities are critical to such countries, the need for guidance on structured clinical training was recognized by the members of the Regional Cooperative Agreement for Research, Development and Training related to Nuclear Science and Technology (RCA) for the Asia-Pacific region. Consequently, a technical cooperation regional project (RAS6038) under the RCA programme was formulated to address this need in this region by developing suitable material and establishing its viability. Development of a clinical training guide for medical physicists specialising in nuclear medicine was started in 2009 with the appointment of a core drafting committee of regional and international experts. The publication drew on the experience of clinical training in Australia, Croatia and Sweden and was moderated by physicists working in the Asian region. The present publication follows the approach of earlier IAEA publications in the Training Course Series, specifically Nos 37 and 47, Clinical Training of Medical Physicists Specializing in Radiation Oncology and Clinical Training of Medical Physicists

  2. [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.

  3. The predictive validity of the BioMedical Admissions Test for pre-clinical examination performance.

    Science.gov (United States)

    Emery, Joanne L; Bell, John F

    2009-06-01

    Some medical courses in the UK have many more applicants than places and almost all applicants have the highest possible previous and predicted examination grades. The BioMedical Admissions Test (BMAT) was designed to assist in the student selection process specifically for a number of 'traditional' medical courses with clear pre-clinical and clinical phases and a strong focus on science teaching in the early years. It is intended to supplement the information provided by examination results, interviews and personal statements. This paper reports on the predictive validity of the BMAT and its predecessor, the Medical and Veterinary Admissions Test. Results from the earliest 4 years of the test (2000-2003) were matched to the pre-clinical examination results of those accepted onto the medical course at the University of Cambridge. Correlation and logistic regression analyses were performed for each cohort. Section 2 of the test ('Scientific Knowledge') correlated more strongly with examination marks than did Section 1 ('Aptitude and Skills'). It also had a stronger relationship with the probability of achieving the highest examination class. The BMAT and its predecessor demonstrate predictive validity for the pre-clinical years of the medical course at the University of Cambridge. The test identifies important differences in skills and knowledge between candidates, not shown by their previous attainment, which predict their examination performance. It is thus a valid source of additional admissions information for medical courses with a strong scientific emphasis when previous attainment is very high.

  4. Pharmaceutical advertisements in medical journals received in a medical clinic: are we having "too much of a good thing"?

    Science.gov (United States)

    Lohiya, Sapna

    2005-05-01

    A convenience sample of all medical journals found in a medical clinic was reviewed for pharmaceutical advertisements. Ads were present in 25 (96%) of the 26 journals. Ad space varied from 0-34% (mean 12) in research, and 9-48% (mean: 36) in nonresearch journals. In 23 (88%) journals, individual ads consisted of more than one page. Colorful glossy insert-ads, of up to nine pages, were seen in 18 (69%) journals. Six (23%) journals contained more advertising than editorial pages. Many ads were longer than the longest article in that journal. Medical journals devote considerable space to pharmaceutical ads. Excessive pharmaceutical advertising may bias the journals' owners and readers and may be distracting and annoying.

  5. [Clinical problems in medical mycology: Problem number 52].

    Science.gov (United States)

    Messina, Fernando; Depardo, Roxana; Negroni, Ricardo; Romero, Mercedes; Walker, Laura; Arechavala, Alicia; Marín, Emmanuel; Canteros, Cristina; Santiso, Gabriela

    The case of a 60 year old woman with hemoptysis and a thin-walled cavitary lesion at the upper lobe of the right lung is presented. The woman presented at the Mycology Unit of the Muñiz Hospital in Buenos Aires City 3 months after the beginning of her clinical manifestations. A hyaline micelial fungus with chlamido-arthroconidias was isolated from the bronchoalveolar lavage. Immunodiffusion and counter-immnunoelectrophoresis with coccidioidin and histoplasmin rendered positive results against both antigents, and skin tests with coccidioidin and histoplasmin were also positive with strong reactions. The isolated fungus was identified as Coccidioides posadasii at the National Microbiology Institute Carlos Malbrán, by means of a molecular technique. The patient was treated with itraconazole by oral route at a daily dose of 200mg with good clinical response, but due to the persistence of the lung cavity, a surgical removal of the upper lobe of the right lung had to be scheduled. Copyright © 2017 Asociación Española de Micología. Publicado por Elsevier España, S.L.U. All rights reserved.

  6. [Clinical problems in medical mycology: Problem number 51].

    Science.gov (United States)

    Romero, Mercedes; Messina, Fernando; Marín, Emmanuel; Arechavala, Alicia; Negroni, Ricardo; Depardo, Roxana; Walker, Laura; Benchetrit, Andrés; Santiso, Gabriela

    A 48 year-old immunocompetent woman, who had a nodular lesion in the neck and a dense infiltrate at the lower lobe of the left lung, presented at the Mycology Unit of Muñiz Hospital of Buenos Aires City. The pulmonary infiltrate disappeared spontaneously 3 months later. The histopathological study of the nodular lesion showed capsulated yeasts (mucicarmin and alcian blue positive stains) compatible with Cryptococcus. The mycological study of a new sample, obtained by a nodular puncture, allowed the isolation of yeasts, identified as Cryptococcus gattii (VGII). Latex test for Cryptococcus capsular antigen in serum was positive (1/100). CSF cultures rendered negative results. Fluconazole at a daily dose of 800mg was given during 45 days with partial improvement; as cultures from a new clinical sample were positive for Cryptococcus, the antimycotic was changed to itraconazole 400mg/day for 5 months, with an excellent clinical response. Copyright © 2017 Asociación Española de Micología. Publicado por Elsevier España, S.L.U. All rights reserved.

  7. Undergraduate medical students' perceptions and intentions regarding patient safety during clinical clerkship.

    Science.gov (United States)

    Lee, Hoo-Yeon; Hahm, Myung-Il; Lee, Sang Gyu

    2018-04-04

    The purpose of this study was to examine undergraduate medical students' perceptions and intentions regarding patient safety during clinical clerkships. Cross-sectional study administered in face-to-face interviews using modified the Medical Student Safety Attitudes and Professionalism Survey (MSSAPS) from three colleges of medicine in Korea. We assessed medical students' perceptions of the cultures ('safety', 'teamwork', and 'error disclosure'), 'behavioural intentions' concerning patient safety issues and 'overall patient safety'. Confirmatory factor analysis and Spearman's correlation analyses was performed. In total, 194(91.9%) of the 211 third-year undergraduate students participated. 78% of medical students reported that the quality of care received by patients was impacted by teamwork during clinical rotations. Regarding error disclosure, positive scores ranged from 10% to 74%. Except for one question asking whether the disclosure of medical errors was an important component of patient safety (74%), the percentages of positive scores for all the other questions were below 20%. 41.2% of medical students have intention to disclose it when they saw a medical error committed by another team member. Many students had difficulty speaking up about medical errors. Error disclosure guidelines and educational efforts aimed at developing sophisticated communication skills are needed. This study may serve as a reference for other institutions planning patient safety education in their curricula. Assessing student perceptions of safety culture can provide clerkship directors and clinical service chiefs with information that enhances the educational environment and promotes patient safety.

  8. Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency.

    Science.gov (United States)

    Abolhassani, Hassan; Chou, Janet; Bainter, Wayne; Platt, Craig D; Tavassoli, Mahmood; Momen, Tooba; Tavakol, Marzieh; Eslamian, Mohammad Hossein; Gharagozlou, Mohammad; Movahedi, Masoud; Ghadami, Mohsen; Hamidieh, Amir Ali; Azizi, Gholamreza; Yazdani, Reza; Afarideh, Mohsen; Ghajar, Alireza; Havaei, Arash; Chavoshzadeh, Zahra; Mahdaviani, Seyed Alireza; Cheraghi, Taher; Behniafard, Nasrin; Amin, Reza; Aleyasin, Soheila; Faridhosseini, Reza; Jabbari-Azad, Farahzad; Nabavi, Mohammamd; Bemanian, Mohammad Hassan; Arshi, Saba; Molatefi, Rasol; Sherkat, Roya; Mansouri, Mahboubeh; Mesdaghi, Mehrnaz; Babaie, Delara; Mohammadzadeh, Iraj; Ghaffari, Javad; Shafiei, Alireza; Kalantari, Najmeddin; Ahanchian, Hamid; Khoshkhui, Maryam; Soheili, Habib; Dabbaghzadeh, Abbas; Shirkani, Afshin; Nasiri Kalmarzi, Rasoul; Mortazavi, Seyed Hamidreza; Tafaroji, Javad; Khalili, Abbas; Mohammadi, Javad; Negahdari, Babak; Joghataei, Mohammad-Taghi; Al-Ramadi, Basel K; Picard, Capucine; Parvaneh, Nima; Rezaei, Nima; Chatila, Talal A; Massaad, Michel J; Keles, Sevgi; Hammarström, Lennart; Geha, Raif S; Aghamohammadi, Asghar

    2018-04-01

    Combined immunodeficiencies (CIDs) are diseases of defective adaptive immunity with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle East than Western countries, the resources for genetic diagnosis are limited. This study aims to characterize the categories of patients with CIDs in Iran clinically and genetically. Clinical and laboratory data were obtained from 696 patients with CIDs. Patients were subdivided into those with syndromic (344 patients) and nonsyndromic (352 patients) CIDs. Targeted DNA sequencing was performed on 243 (34.9%) patients. The overall diagnostic yield of the 243 sequenced patients was 77.8% (189 patients). The clinical diagnosis of hyper-IgE syndrome (P < .001), onset of disease at greater than 5 years (P = .02), and absence of multiple affected family members (P = .04) were significantly more frequent in the patients without a genetic diagnosis. An autosomal recessive disease was found in 62.9% of patients, reflecting the high rate of consanguinity in this cohort. Mutations impairing VDJ recombination and DNA repair were the most common underlying causes of CIDs. However, in patients with syndromic CIDs, autosomal recessive mutations in ataxia-telangiectasia mutated (ATM), autosomal dominant mutations in signal transducer and activator of transcription 3 (STAT3), and microdeletions in 22q11.21 were the most commonly affected genomic loci. Patients with syndromic CIDs had a significantly lower 5-year survival rate rather than those with nonsyndromic CIDs. This study provides proof of principle for the application of targeted next-generation sequencing panels in countries with limited diagnostic resources. The effect of genetic diagnosis on clinical care requires continued improvements in therapeutic resources for these patients. Copyright © 2017 American Academy of Allergy, Asthma & Immunology. All rights reserved.

  9. Adult-onset photosensitivity: clinical significance and epilepsy syndromes including idiopathic (possibly genetic) photosensitive occipital epilepsy.

    Science.gov (United States)

    Koutroumanidis, Michalis; Tsirka, Vasiliki; Panayiotopoulos, Chrysostomos

    2015-09-01

    To evaluate the clinical associations of adult-onset photosensitivity, we studied the clinical and EEG data of patients who were referred due to a possible first seizure and who had a photoparoxysmal response on their EEG. Patients with clinical evidence of photosensitivity before the age of 20 were excluded. Of a total of 30 patients, four had acute symptomatic seizures, two had vasovagal syncope, and 24 were diagnosed with epilepsy. Nine of the 24 patients had idiopathic (genetic) generalized epilepsies and predominantly generalized photoparoxysmal response, but also rare photically-induced seizures, while 15 had exclusively, or almost exclusively, reflex photically-induced occipital seizures with frequent secondary generalization and posterior photoparoxysmal response. Other important differences included a significantly older age at seizure onset and paucity of spontaneous interictal epileptic discharges in patients with photically-induced occipital seizures; only a quarter of these had occasional occipital spikes, in contrast to the idiopathic (genetic) generalized epilepsy patients with typically generalized epileptic discharges. On the other hand, both groups shared a positive family history of epilepsy, common seizure threshold modulators (such as tiredness and sleep deprivation), normal neurological examination and MRI, a generally benign course, and good response to valproic acid. We demonstrated that photosensitivity can first occur in adult life and manifest, either as idiopathic (possibly genetic) photosensitive occipital epilepsy with secondary generalization or as an EEG, and less often, a clinical/EEG feature of idiopathic (genetic) generalized epilepsies. Identification of idiopathic photosensitive occipital epilepsy fills a diagnostic gap in adult first-seizure epileptology and is clinically important because of its good response to antiepileptic drug treatment and fair prognosis.

  10. Clinical impact of genetic variants of drug transporters in different ethnic groups within and across regions.

    Science.gov (United States)

    Ono, Chiho; Kikkawa, Hironori; Suzuki, Akiyuki; Suzuki, Misaki; Yamamoto, Yuichi; Ichikawa, Katsuomi; Fukae, Masato; Ieiri, Ichiro

    2013-11-01

    Drug transporters, together with drug metabolic enzymes, are major determinants of drug disposition and are known to alter the response to many commonly used drugs. Substantial frequency differences for known variants exist across geographic regions for certain drug transporters. To deliver efficacious medicine with the right dose for each patient, it is important to understand the contribution of genetic variants for drug transporters. Recently, mutual pharmacokinetic data usage among Asian regions, which are thought to be relatively similar in their own genetic background, is expected to accelerate new drug applications and reduce developmental costs. Polymorphisms of drug transpor