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Sample records for genetic screening programs

  1. Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approaches.

    Shao, Yunru; Liu, Shuling; Grinzaid, Karen

    2015-04-01

    Improvements in genetic testing technologies have led to the development of expanded carrier screening panels for the Ashkenazi Jewish population; however, there are major inconsistencies in current screening practices. A 2-year pilot program was launched in Atlanta in 2010 to promote and facilitate screening for 19 Jewish genetic diseases. We analyzed data from this program, including participant demographics and outreach efforts. This retrospective analysis is based on a de-identified dataset of 724 screenees. Data were obtained through medical chart review and questionnaires and included demographic information, screening results, response to outreach efforts, and follow-up behavior and preferences. We applied descriptive analysis, chi-square tests, and logistic regression to analyze the data and compare findings with published literature. The majority of participants indicated that they were not pregnant or did not have a partner who was pregnant were affiliated with Jewish organizations and reported 100 % AJ ancestry. Overall, carrier frequency was 1 in 3.9. Friends, rabbis, and family members were the most common influencers of the decision to receive screening. People who were older, had a history of pregnancy, and had been previously screened were more likely to educate others (all p influencers who then encouraged screening in the target population. Educating influencers and increasing overall awareness were the most effective outreach strategies.

  2. Stigmatization of carrier status: social implications of heterozygote genetic screening programs.

    Kenen, R H; Schmidt, R M

    1978-01-01

    Possible latent psychological and social consequences ensuing from genetic screening programs need to be investigated during the planning phase of national genetic screening programs. The relatively few studies which have been performed to determine psychological, social, and economic consequences resulting from a genetic screening program are reviewed. Stigmatization of carrier-status, having major psychosocial implications in heterozygote genetic screening programs, is discussed and related to Erving Goffman's work in the area of stigmatization. Questions are raised regarding the relationship between such variables as religiosity and sex of the individual and acceptance of the status of newly identified carrier of a mutant gene. Severity of the deleterious gene and visibility of the carrier status are two important factors to consider in an estimation of potential stigma. Specific implications are discussed for four genetic diseases: Tay-Sachs, Sickle-Cell Anemia, Huntington's disease and Hemophilia. PMID:152585

  3. Prenatal screening and genetics

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

    2001-01-01

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

  4. Preimplantation genetic screening.

    Harper, Joyce C

    2018-03-01

    Preimplantation genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a genetic or chromosomal abnormality, such as cystic fibrosis, to their child. From embryos generated in vitro, biopsied cells are genetically tested. From the mid-1990s, this technology has been employed as an embryo selection tool for patients undergoing in vitro fertilisation, screening as many chromosomes as possible, in the hope that selecting chromosomally normal embryos will lead to higher implantation and decreased miscarriage rates. This procedure, preimplantation genetic screening, was initially performed using fluorescent in situ hybridisation, but 11 randomised controlled trials of screening using this technique showed no improvement in in vitro fertilisation delivery rates. Progress in genetic testing has led to the introduction of array comparative genomic hybridisation, quantitative polymerase chain reaction, and next generation sequencing for preimplantation genetic screening, and three small randomised controlled trials of preimplantation genetic screening using these new techniques indicate a modest benefit. Other trials are still in progress but, regardless of their results, preimplantation genetic screening is now being offered globally. In the near future, it is likely that sequencing will be used to screen the full genetic code of the embryo.

  5. Infrastructure and Educational Needs of Newborn Screening Short-Term Follow-Up Programs within the Southeast Regional Newborn Screening & Genetics Collaborative: A Pilot Survey

    Cecelia A. Bellcross

    2015-10-01

    Full Text Available Newborn screening (NBS follow-up protocols vary significantly by state, and there is a need to better understand the infrastructure and communication flow of NBS programs. In addition, assessment of the educational needs of families and providers with regard to the implications of NBS results is required to inform the development of appropriate informational resources and training opportunities. To begin to address these issues, we administered a web-based survey to state NBS coordinators within the Southeast Regional Newborn Screening & Genetics Collaborative (SERC. Fourteen coordinators responded to the survey, including at least one from each of the 10 SERC states/territories. Over one-third of respondents had never received formal training regarding the metabolic conditions identified on NBS. Most communicated results via telephone or fax, though two centers indicated use of a web-based platform. Only two programs were involved in directly reporting results to the family. Four programs reported a long-term follow-up protocol. Deficits were noted for primary care provider (PCP knowledge of metabolic disorders identified on NBS, and how to inform parents of abnormal results. Close to half indicated that the adequacy of the number of genetic counselors, dietitians, and medical/biochemical geneticists was minimal to insufficient. Respondents uniformly recognized the importance of providing additional educational and informational resources in multiple categories to NBS staff, PCPs, and families.

  6. Industrial screening programs for workers

    Lavine, M.P.

    1982-01-01

    Industrial screening efforts to identify classes of workers who are more susceptible to workplace hazards, by virtue of their fertility, genetic, or lifestyle characteristics, represent a relatively new approach to reducing workplace risks. Screening has already raised some important economic, legal, social, medical, and moral questions. Employers, employees, administrative agencies, and the courts are offering different, often conflicting answers. Ultimately the acceptability of various screening schemes rests upon judgments about how a society justifies the distribution of risk. The questions that industrial screening programs raise are only partially answered by empirical evidence; the rest is a matter of values

  7. Genetic screening: programs, principles, and research--thirty years later. Reviewing the recommendations of the Committee for the Study of Inborn Errors of Metabolism (SIEM).

    Simopoulos, A P

    2009-01-01

    Screening programs for genetic diseases and characteristics have multiplied in the last 50 years. 'Genetic Screening: Programs, Principles, and Research' is the report of the Committee for the Study of Inborn Errors of Metabolism (SIEM Committee) commissioned by the Division of Medical Sciences of the National Research Council at the National Academy of Sciences in Washington, DC, published in 1975. The report is considered a classic in the field worldwide, therefore it was thought appropriate 30 years later to present the Committee's modus operandi and bring the Committee's recommendations to the attention of those involved in genetics, including organizational, educational, legal, and research aspects of genetic screening. The Committee's report anticipated many of the legal, ethical, economic, social, medical, and policy aspects of genetic screening. The recommendations are current, and future committees should be familiar with them. In 1975 the Committee stated: 'As new screening tests are devised, they should be carefully reviewed. If the experimental rate of discovery of new genetic characteristics means an accelerating rate of appearance of new screening tests, now is the time to develop the medical and social apparatus to accommodate what later on may otherwise turn out to be unmanageable growth.' What a prophetic statement that was. If the Committee's recommendations had been implemented on time, there would be today a federal agency in existence, responsive and responsible to carry out the programs and support research on various aspects of genetic screening, including implementation of a federal law that protects consumers from discrimination by their employers and the insurance industry on the basis of genetic information. Copyright 2008 S. Karger AG, Basel.

  8. Phenylketonuria Genetic Screening Simulation

    Erickson, Patti

    2012-01-01

    After agreeing to host over 200 students on a daylong genetics field trip, the author needed an easy-to-prepare genetics experiment to accompany the DNA-necklace and gel-electrophoresis activities already planned. One of the student's mothers is a pediatric physician at the local hospital, and she suggested exploring genetic-disease screening…

  9. Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis.

    Sullivan-Pyke, Chantae; Dokras, Anuja

    2018-03-01

    Preimplantation genetic testing encompasses preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). PGS improves success rates of in vitro fertilization by ensuring the transfer of euploid embryos that have a higher chance of implantation and resulting in a live birth. PGD enables the identification of embryos with specific disease-causing mutations and transfer of unaffected embryos. The development of whole genome amplification and genomic tools, including single nucleotide polymorphism microarrays, comparative genomic hybridization microarrays, and next-generation sequencing, has led to faster, more accurate diagnoses that translate to improved pregnancy and live birth rates. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. Multimedia messages in genetics: design, development, and evaluation of a computer-based instructional resource for secondary school students in a Tay Sachs disease carrier screening program.

    Gason, Alexandra A; Aitken, MaryAnne; Delatycki, Martin B; Sheffield, Edith; Metcalfe, Sylvia A

    2004-01-01

    Tay Sachs disease is a recessively inherited neurodegenerative disorder, for which carrier screening programs exist worldwide. Education for those offered a screening test is essential in facilitating informed decision-making. In Melbourne, Australia, we have designed, developed, and evaluated a computer-based instructional resource for use in the Tay Sachs disease carrier screening program for secondary school students attending Jewish schools. The resource entitled "Genetics in the Community: Tay Sachs disease" was designed on a platform of educational learning theory. The development of the resource included formative evaluation using qualitative data analysis supported by descriptive quantitative data. The final resource was evaluated within the screening program and compared with the standard oral presentation using a questionnaire. Knowledge outcomes were measured both before and after either of the educational formats. Data from the formative evaluation were used to refine the content and functionality of the final resource. The questionnaire evaluation of 302 students over two years showed the multimedia resource to be equally effective as an oral educational presentation in facilitating participants' knowledge construction. The resource offers a large number of potential benefits, which are not limited to the Tay Sachs disease carrier screening program setting, such as delivery of a consistent educational message, short delivery time, and minimum financial and resource commitment. This article outlines the value of considering educational theory and describes the process of multimedia development providing a framework that may be of value when designing genetics multimedia resources in general.

  11. Genetic programming in microorganisms

    Hopwood, D A

    1981-11-01

    Formerly, when microbiologists had only existing organisms at their disposal whose characteristics could only be changed randomly by genetic experiments, they used to dream of programmed genetic changes. This dream has come true with modern genetic engineering.

  12. Development of a genetically programed vanillin-sensing bacterium for high-throughput screening of lignin-degrading enzyme libraries.

    Sana, Barindra; Chia, Kuan Hui Burton; Raghavan, Sarada S; Ramalingam, Balamurugan; Nagarajan, Niranjan; Seayad, Jayasree; Ghadessy, Farid J

    2017-01-01

    Lignin is a potential biorefinery feedstock for the production of value-added chemicals including vanillin. A huge amount of lignin is produced as a by-product of the paper industry, while cellulosic components of plant biomass are utilized for the production of paper pulp. In spite of vast potential, lignin remains the least exploited component of plant biomass due to its extremely complex and heterogenous structure. Several enzymes have been reported to have lignin-degrading properties and could be potentially used in lignin biorefining if their catalytic properties could be improved by enzyme engineering. The much needed improvement of lignin-degrading enzymes by high-throughput selection techniques such as directed evolution is currently limited, as robust methods for detecting the conversion of lignin to desired small molecules are not available. We identified a vanillin-inducible promoter by RNAseq analysis of Escherichia coli cells treated with a sublethal dose of vanillin and developed a genetically programmed vanillin-sensing cell by placing the 'very green fluorescent protein' gene under the control of this promoter. Fluorescence of the biosensing cell is enhanced significantly when grown in the presence of vanillin and is readily visualized by fluorescence microscopy. The use of fluorescence-activated cell sorting analysis further enhances the sensitivity, enabling dose-dependent detection of as low as 200 µM vanillin. The biosensor is highly specific to vanillin and no major response is elicited by the presence of lignin, lignin model compound, DMSO, vanillin analogues or non-specific toxic chemicals. We developed an engineered E. coli cell that can detect vanillin at a concentration as low as 200 µM. The vanillin-sensing cell did not show cross-reactivity towards lignin or major lignin degradation products including vanillin analogues. This engineered E. coli cell could potentially be used as a host cell for screening lignin-degrading enzymes that

  13. Private and public eugenics: genetic and screening in India

    Gupta, J.A.

    2007-01-01

    Epidemiologists and geneticists claim that genetics has an increasing role to play in public health policies and programs in the future. Within this perspective, genetic testing and screening are instrumental in avoiding the birth of children with serious, costly or untreatable disorders. This paper

  14. Applications of Genetic Programming

    Gaunholt, Hans; Toma, Laura

    1996-01-01

    In this report a study of genetic programming (GP) has been performed with respect to a number of applications such as Symbolic function regression, Solving Symbolic Differential Equations, Image encoding, the ant problem etc.......In this report a study of genetic programming (GP) has been performed with respect to a number of applications such as Symbolic function regression, Solving Symbolic Differential Equations, Image encoding, the ant problem etc....

  15. Screening diagnostic program breast cancer

    Portnoj, L.M.; Zhakova, I.I.; Budnikova, N.V.; Rukhlyadko, E.D.

    1995-01-01

    The authors propose their screening program for detection of breast cancer. It includes the entire complex of present-day screening diagnostic methods, starting from an original system for the formation of groups at risk of breast cancer and completed by the direct diagnostic model of detection of the condition, oriented at a differentiated approach to the use of mammographic techniques. The proposed organizational and methodologic screening measures are both economic and diagnostically effective, thus meeting the principal requirements to screening programs. Screening of 8541 risk-groups patients helped detect 867 nodular formations, 244 of which were cancer and 623 benign formations. 8 refs., 3 figs.,

  16. Linear genetic programming

    Brameier, Markus

    2007-01-01

    Presents a variant of Genetic Programming that evolves imperative computer programs as linear sequences of instructions, in contrast to the more traditional functional expressions or syntax trees. This book serves as a reference for researchers, but also contains sufficient introduction for students and those who are new to the field

  17. Some legal aspects of genetic screening.

    Abbing, H R

    2003-01-01

    Screening activities in health care are not always useful and sometimes harmful. The mere offer of a screening test puts the individual's autonomy under constraint. With genetic (predictive and risk assessment) tests, the right to free, informed consent and to protection of privacy and medical confidentiality is even more warranted. Screening evokes many questions from the perspective of the right to health care as well as (in particular with genetic screening) from the perspective of respect for individual human rights. Fear of liability puts pressure on professional restraint not to offer every screening test available. States have to take legislative measures for guaranteeing that only those screening activities become available that can significantly contribute to individual and public health. They also should consider additional rules for protecting individual rights where those that are generally accepted in the "ordinary" medical setting (the individual patient-doctor relationship), offer insufficient protection.

  18. Advances in preimplantation genetic diagnosis/screening.

    Yan, LiYing; Wei, Yuan; Huang, Jin; Zhu, XiaoHui; Shi, XiaoDan; Xia, Xi; Yan, Jie; Lu, CuiLing; Lian, Ying; Li, Rong; Liu, Ping; Qiao, Jie

    2014-07-01

    Preimplantation genetic diagnosis (PGD) gives couples who have a high risk of transmitting genetic disorders to their baby the chance to have a healthy offspring through embryo genetic analysis and selection. Preimplantation genetic screening (PGS) is an effective method to select euploid embryos that may prevent repeated implantation failure or miscarriage. However, how and to whom PGS should be provided is a controversial topic. The first successful case of PGD of a human being was reported in 1990, and there have been tremendous improvements in this technology since then. Both embryo biopsy and genetic technologies have been improved dramatically, which increase the accuracy and expand the indications of PGD/PGS.

  19. After the Introduction into the National Newborn Screening Program : Who Is Receiving Genetic Counseling for Hemoglobinopathies in The Netherlands?

    Kaufmann, J. O.; Krapels, I. P. C.; Van Brussel, B. T. J.; Zekveld-Vroon, R. C.; Oosterwijk, J. C.; van Erp, F.; van Echtelt, J.; Zwijnenburg, P. J. G.; Petrij, F.; Bakker, E.; Giordano, P. C.

    2014-01-01

    OBJECTIVE: Universal newborn screening for hemoglobinopathies started in The Netherlands in 2007. Herewith severe conditions, such as sickle cell disease, β-thalassemia major and hemoglobin H disease are putatively identified. Additionally, at least 1,800 carriers of hemoglobin variants associated

  20. Genetic screening and democracy: lessons from debating genetic screening criteria in the Netherlands

    van El, C.G.; Pieters, T.; Cornel, M.C.

    2012-01-01

    Recent decades have witnessed increasing possibilities for genetic testing and screening. In clinical genetics, the doctor's office defined a secluded space for discussion of sensitive reproductive options in cases of elevated risk for genetic disorders in individuals or their offspring. When

  1. Technical Update: Preimplantation Genetic Diagnosis and Screening.

    Dahdouh, Elias M; Balayla, Jacques; Audibert, François; Wilson, R Douglas; Audibert, François; Brock, Jo-Ann; Campagnolo, Carla; Carroll, June; Chong, Karen; Gagnon, Alain; Johnson, Jo-Ann; MacDonald, William; Okun, Nanette; Pastuck, Melanie; Vallée-Pouliot, Karine

    2015-05-01

    To update and review the techniques and indications of preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Discussion about the genetic and technical aspects of preimplantation reproductive techniques, particularly those using new cytogenetic technologies and embryo-stage biopsy. Clinical outcomes of reproductive techniques following the use of PGD and PGS are included. This update does not discuss in detail the adverse outcomes that have been recorded in association with assisted reproductive technologies. Published literature was retrieved through searches of The Cochrane Library and Medline in April 2014 using appropriate controlled vocabulary (aneuploidy, blastocyst/physiology, genetic diseases, preimplantation diagnosis/methods, fertilization in vitro) and key words (e.g., preimplantation genetic diagnosis, preimplantation genetic screening, comprehensive chromosome screening, aCGH, SNP microarray, qPCR, and embryo selection). Results were restricted to systematic reviews, randomized controlled trials/controlled clinical trials, and observational studies published from 1990 to April 2014. There were no language restrictions. Searches were updated on a regular basis and incorporated in the update to January 2015. Additional publications were identified from the bibliographies of retrieved articles. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care. (Table 1) BENEFITS, HARMS, AND COSTS: This update will educate readers about new preimplantation genetic concepts, directions, and technologies. The major harms and costs identified are those of assisted reproductive

  2. Preimplantation genetic screening: back to the future

    Mastenbroek, Sebastiaan; Repping, Sjoerd

    2014-01-01

    All agree that in hindsight the rapid adoption of preimplantation genetic screening (PGS) using cleavage stage biopsy and fluorescence in situ hybridization (FISH) in routine clinical practice without proper evaluation of (cost-)effectiveness basically resulted in couples paying more money for a

  3. [Current options of preimplantion genetic screening and preimplantation genetic diagnostics].

    Šimečková, V

    The aim of this work is to summarize the current knowledge about preimplantation genetic screening and diagnostics. A review article. Department of Gynecology and Obstetrics, District Hospital Šternberk, IVF Clinic, Olomouc. Preimplantation genetic testing is a complex of genetic and molecular cytogenetic examinations, which can help to detect abnormalities in embryos before transfer into the uterus of the mother. These specialized examinations are based on the latest findings in genetics and assisted reproduction. The preimplantation genetic testing is necessarily associated with a method of in vitro fertilization. It is performed on isolated blastomeres on the third day of embryo cultivation. Nowadays, it is preferred trophectoderm examination of cells from the five-day blastocysts. Generally speaking, after preimplantation genetic testing, we can select only embryos without genetic load to transfer into uterus. Preimplantation genetic testing is an important part of treatment of infertility. Complex diagnostics and treatment of infertile couples are increasingly influenced by the development and use of advanced genomic technologies. Further development and application of these modern methods require close cooperation between the field of assisted reproduction and clinical genetics.

  4. Scientific discovery using genetic programming

    Keijzer, Maarten

    2001-01-01

    programming paradigm. The induction of mathematical expressions based on data is called symbolic regression. In this work, genetic programming is extended to not just fit the data i.e., get the numbers right, but also to get the dimensions right. For this units of measurement are used. The main contribution......Genetic Programming is capable of automatically inducing symbolic computer programs on the basis of a set of examples or their performance in a simulation. Mathematical expressions are a well-defined subset of symbolic computer programs and are also suitable for optimization using the genetic...... in this work can be summarized as: The symbolic expressions produced by genetic programming can be made suitable for analysis and interpretation by using units of measurements to guide or restrict the search. To achieve this, the following has been accomplished: A standard genetic programming system...

  5. Genetic screens in Caenorhabditis elegans models for neurodegenerative diseases

    Alvarenga Fernandes Sin, Olga; Michels, Helen; Nollen, Ellen A. A.

    2014-01-01

    Caenorhabditis elegans comprises unique features that make it an attractive model organism in diverse fields of biology. Genetic screens are powerful to identify genes and C. elegans can be customized to forward or reverse genetic screens and to establish gene function. These genetic screens can be

  6. New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening.

    Chen, Chun-Kai; Yu, Hsing-Tse; Soong, Yung-Kuei; Lee, Chyi-Long

    2014-06-01

    Preimplantation genetic diagnosis is a procedure that involves the removal of one or more nuclei from oocytes (a polar body) or embryos (blastomeres or trophectoderm cells) in order to test for problems in genome sequence or chromosomes of the embryo prior to implantation. It provides new hope of having unaffected children, as well as avoiding the necessity of terminating an affected pregnancy for genetic parents who carry an affected gene or have balanced chromosomal status. Polymerase chain reaction-based molecular techniques are the methods used to detect gene defects with a known sequence and X-linked diseases. The indication for using this approach has expanded for couples who are prevented from having babies because they carry a serious genetic disorder to couples with conditions that are not immediately life threatening, such as cancer predisposition genes and Huntington disease. In addition, fluorescent in situ hybridization (FISH) has been widely applied for the detection of chromosome abnormalities. FISH allows the evaluation of many chromosomes at the same time, up to 15 chromosome pairs in a single cell. Preimplantation genetic screening, defined as a test that screens for aneuploidy, has been most commonly used in situations of advanced maternal age, a history of recurrent miscarriage, a history of repeated implantation failure, or a severe male factor. Unfortunately, randomized controlled trials have as yet shown no benefit with respect to preimplantation genetic screening using cleavage stage biopsy, which is probably attributable to the high levels of mosaicism at early cleavage stages and the limitations of FISH. Recently, two main types of array-based technology combined with whole genome amplification have been developed for use in preimplantation genetic diagnosis; these are comparative genomic hybridization and single nucleotide polymorphism-based arrays. Both allow the analysis of all chromosomes, and the latter also allows the haplotype of

  7. New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening

    Chun-Kai Chen

    2014-06-01

    Full Text Available Preimplantation genetic diagnosis is a procedure that involves the removal of one or more nuclei from oocytes (a polar body or embryos (blastomeres or trophectoderm cells in order to test for problems in genome sequence or chromosomes of the embryo prior to implantation. It provides new hope of having unaffected children, as well as avoiding the necessity of terminating an affected pregnancy for genetic parents who carry an affected gene or have balanced chromosomal status. Polymerase chain reaction-based molecular techniques are the methods used to detect gene defects with a known sequence and X-linked diseases. The indication for using this approach has expanded for couples who are prevented from having babies because they carry a serious genetic disorder to couples with conditions that are not immediately life threatening, such as cancer predisposition genes and Huntington disease. In addition, fluorescent in situ hybridization (FISH has been widely applied for the detection of chromosome abnormalities. FISH allows the evaluation of many chromosomes at the same time, up to 15 chromosome pairs in a single cell. Preimplantation genetic screening, defined as a test that screens for aneuploidy, has been most commonly used in situations of advanced maternal age, a history of recurrent miscarriage, a history of repeated implantation failure, or a severe male factor. Unfortunately, randomized controlled trials have as yet shown no benefit with respect to preimplantation genetic screening using cleavage stage biopsy, which is probably attributable to the high levels of mosaicism at early cleavage stages and the limitations of FISH. Recently, two main types of array-based technology combined with whole genome amplification have been developed for use in preimplantation genetic diagnosis; these are comparative genomic hybridization and single nucleotide polymorphism-based arrays. Both allow the analysis of all chromosomes, and the latter also allows

  8. What next for preimplantation genetic screening? A polar body approach!

    Geraedts, Joep; Collins, John; Gianaroli, Luca; Goossens, Veerle; Handyside, Alan; Harper, Joyce; Montag, Markus; Repping, Sjoerd; Schmutzler, Andreas

    2010-01-01

    Screening of human preimplantation embryos for numerical chromosome abnormalities has been conducted mostly at the preimplantation stage using fluorescence in situ hybridization. However, it is clear that preimplantation genetic screening (PGS) as it is currently practiced does not improve live

  9. Behavioral program synthesis with genetic programming

    Krawiec, Krzysztof

    2016-01-01

    Genetic programming (GP) is a popular heuristic methodology of program synthesis with origins in evolutionary computation. In this generate-and-test approach, candidate programs are iteratively produced and evaluated. The latter involves running programs on tests, where they exhibit complex behaviors reflected in changes of variables, registers, or memory. That behavior not only ultimately determines program output, but may also reveal its `hidden qualities' and important characteristics of the considered synthesis problem. However, the conventional GP is oblivious to most of that information and usually cares only about the number of tests passed by a program. This `evaluation bottleneck' leaves search algorithm underinformed about the actual and potential qualities of candidate programs. This book proposes behavioral program synthesis, a conceptual framework that opens GP to detailed information on program behavior in order to make program synthesis more efficient. Several existing and novel mechanisms subs...

  10. Screening for genetically modified organisms sequences in food ...

    We used the Allin 2.0 GMO screening system from Biosmart, Switzerland to screen for the presence of genetically modified food sequences in maize meal samples, fresh fruit and vegetables from some retailers around Gaborone, Botswana. The Allin 2.0 is a multiplex PCR system for the detection of genetically modified ...

  11. Financing state newborn screening programs: sources and uses of funds.

    Johnson, Kay; Lloyd-Puryear, Michele A; Mann, Marie Y; Ramos, Lauren Raskin; Therrell, Bradford L

    2006-05-01

    Financing for newborn screening is different from virtually all other public health programs. All except 5 screening programs collect fees as the primary source of program funding. A fee-based approach to financing newborn screening has been adopted by most states, to ensure consistent funding for this critical public health activity. Two types of data are reported here, ie, primary data from a survey of 37 state public health agencies and findings from exploratory case studies from 7 states. Most of the programs that participated in this survey (73%) reported that their newborn screening funding increased between 2002 and 2005, typically through increased fees and to a lesser extent through Medicaid, Title V Maternal and Child Health Services Block Grant, and state general revenue funding. All of the responding states that collect fees (n = 31) use such funds to support laboratory expenses, and most (70%) finance short-term follow-up services and program management. Nearly one half (47%) finance longer-term follow-up services, case management, or family support beyond diagnosis. Other states (43%) finance genetic or nutritional counseling and formula foods or treatment. Regardless of the source of funds, the available evidence indicates that states are committed to maintaining their programs and securing the necessary financing for the initial screening through diagnosis. Use of federal funding is currently limited; however, pressure to provide dedicated federal funding would likely increase if national recommendations for a uniform newborn screening panel were issued.

  12. Evaluation of a workplace hemochromatosis screening program.

    Stave, G M; Mignogna, J J; Powell, G S; Hunt, C M

    1999-05-01

    Hemochromatosis is a common inherited disorder of iron metabolism with significant health consequences for the employed population. Although screening for hemochromatosis has been recommended, workplace screening programs remain uncommon. In the first year of a newly initiated corporate screening program, 1968 employees were tested. The screening algorithm included measurement of serum iron and transferrin and subsequent ferritin levels in those employees with elevated iron/transferrin ratios. Thirteen percent of men and 21% of women had elevated iron/transferrin ratios. Of these, 14 men and 2 women had elevated ferritin levels. Of these 16, three had liver biopsies and all three have hemochromatosis. The cost of the screening program was $27,850. The cost per diagnosis was $9283 and the cost per year of life saved was $928. These costs compare very favorably with other common workplace screening programs. Several barriers to obtaining definitive diagnoses on all patients with a positive screening result were identified; strategies to overcome these barriers would further enhance the cost effectiveness of the program. We conclude that workplace hemochromatosis screening is highly cost effective and should be incorporated into health promotion/disease prevention programs.

  13. Impact of a public cholesterol screening program.

    Fischer, P M; Guinan, K H; Burke, J J; Karp, W B; Richards, J W

    1990-12-01

    The National Cholesterol Education Program (NCEP) has endorsed physician case finding as the primary method to detect individuals with elevated cholesterol levels. Despite this recommendation, promotional and for-profit public screening programs have flourished. We surveyed participants of a mall-based cholesterol screening program 1 year after their screening. Sixty-four percent of those screened had not previously known their cholesterol levels. Those who were newly screened were less likely to benefit from this testing than the general public, since they were older (mean age, 55.3 years), more likely to be female (67.4%), and nonsmokers (88%). Screenees had excellent recall of their cholesterol level (mean absolute reporting error, 0.24 mmol/L [9 mg/dL]) and a good understanding of cholesterol as a coronary heart disease risk. Those with elevated cholesterol levels reported high distress from screening but no reduction in overall psychosocial well-being and an actual decrease in absenteeism. Only 53.7% of all who were advised to seek follow-up because of an elevated screening value had done so within the year following the screening program. However, of those with values greater than 6.2 mmol/L (240 mg/dL), 68% had sought follow-up. Many of those who participate in public screening programs have been previously tested, fall into low-benefit groups, or fail to comply with recommended follow-up. We therefore conclude that cholesterol screening programs of the type now commonly offered are unlikely to contribute greatly to the national efforts to further reduce coronary heart disease.

  14. CRISPR genetic screens to discover host-virus interactions.

    McDougall, William M; Perreira, Jill M; Reynolds, Erin C; Brass, Abraham L

    2018-04-01

    Viruses impose an immense burden on human health. With the goal of treating and preventing viral infections, researchers have carried out genetic screens to improve our understanding of viral dependencies and identify potential anti-viral strategies. The emergence of CRISPR genetic screening tools has facilitated this effort by enabling host-virus screens to be undertaken in a more versatile and fidelitous manner than previously possible. Here we review the growing number of CRISPR screens which continue to increase our understanding of host-virus interactions. Copyright © 2018 Elsevier B.V. All rights reserved.

  15. Genetic dissection of mammalian ERAD through comparative haploid and CRISPR forward genetic screens

    Timms, Richard T.; Menzies, Sam A.; Tchasovnikarova, Iva A.

    2016-01-01

    The application of forward genetic screens to cultured human cells represents a powerful method to study gene function. The repurposing of the bacterial CRISPR/Cas9 system provides an effective method to disrupt gene function in mammalian cells, and has been applied to genome-wide screens. Here, we...... compare the efficacy of genome-wide CRISPR/Cas9-mediated forward genetic screens versus gene-trap mutagenesis screens in haploid human cells, which represent the existing ‘gold standard’ method. This head-to-head comparison aimed to identify genes required for the endoplasmic reticulum....../3-associated disulphide reductase. Genome-wide CRISPR/Cas9-mediated screens together with haploid genetic screens provide a powerful addition to the forward genetic toolbox....

  16. The mammography screening employee inreach program.

    Robinson, Joanne; Seltzer, Vicki; Lawrence, Loretta; Autz, George; Kostroff, Karen; Weiselberg, Lora; Colagiacomo, Maria

    2007-02-01

    To determine whether our health care employees were undergoing mammography screening according to American Cancer Society guidelines and to determine whether aggressive outreach, education and streamlining of mammography scheduling could improve compliance. All female employees at North Shore University Hospital (NSUH) and several other health system facilities (SF) were sent mailings to their homes that included breast health education and mammography screening guidelines, a questionnaire regarding their own mammography screening history and the opportunity to have their mammography screening scheduled by the Mammography Screening Employee Inreach Program (MSEIP) coordinator. Of the approximately 2,700 female employees aged 40 and over at NSUH and SF, 2,235 (82.7%) responded to the questionnaire, and 1,455 had a mammogram done via the MSEIP. Of the 1,455, 43% either were overdue for a mammogram or had never had one. During a second year of the MSEIP at NSUH and SF, an additional 1,706 mammograms were done. People employed in health care jobs do not necessarily avail themselves of appropriate health care screening. An aggressive program that utilized education, outreach and assistance with scheduling was effective in increasing compliance with mammography screening.

  17. Counselling considerations for chromosomal mosaicism detected by preimplantation genetic screening.

    Besser, Andria G; Mounts, Emily L

    2017-04-01

    The evolution of preimplantation genetic screening (PGS) for aneuploidy to blastocyst biopsy and more sensitive 24-chromosome screening techniques has resulted in a new diagnostic category of PGS results: those classified as mosaic. This diagnosis presents significant challenges for clinicians in developing policies regarding transfer and storage of such embryos, as well as in providing genetic counselling for patients prior to and following PGS. Given the high frequency of mosaic PGS results and the wide range of possible associated outcomes, there is an urgent need to understand how to appropriately counsel patients regarding such embryos. This is the first commentary to thoroughly address pre- and post-test genetic counselling recommendations, as well as considerations regarding prenatal screening and diagnosis. Current data on mosaic PGS results are summarized along with embryo selection considerations and potential outcomes of embryos diagnosed as mosaic. Copyright © 2017 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  18. Using lessons from breast, cervical, and colorectal cancer screening to inform the development of lung cancer screening programs.

    Armstrong, Katrina; Kim, Jane J; Halm, Ethan A; Ballard, Rachel M; Schnall, Mitchell D

    2016-05-01

    Multiple advisory groups now recommend that high-risk smokers be screened for lung cancer by low-dose computed tomography. Given that the development of lung cancer screening programs will face many of the same issues that have challenged other cancer screening programs, the National Cancer Institute-funded Population-based Research Optimizing Screening through Personalized Regimens (PROSPR) consortium was used to identify lessons learned from the implementation of breast, cervical, and colorectal cancer screening that should inform the introduction of lung cancer screening. These lessons include the importance of developing systems for identifying and recruiting eligible individuals in primary care, ensuring that screening centers are qualified and performance is monitored, creating clear communication standards for reporting screening results to referring physicians and patients, ensuring follow-up is available for individuals with abnormal test results, avoiding overscreening, remembering primary prevention, and leveraging advances in cancer genetics and immunology. Overall, this experience emphasizes that effective cancer screening is a multistep activity that requires robust strategies to initiate, report, follow up, and track each step as well as a dynamic and ongoing oversight process to revise current screening practices as new evidence regarding screening is created, new screening technologies are developed, new biological markers are identified, and new approaches to health care delivery are disseminated. Cancer 2016;122:1338-1342. © 2016 American Cancer Society. © 2016 American Cancer Society.

  19. Cancer Screening and Genetics: A Tale of Two Paradigms

    Hamilton, Jada G.; Edwards, Heather M.; Khoury, Muin J.; Taplin, Stephen H.

    2014-01-01

    The long-standing medical tradition to “first do no harm” is reflected in population-wide evidence-based recommendations for cancer screening tests that focus primarily on reducing morbidity and mortality. The conventional cancer screening process is predicated on finding early-stage disease that can be treated effectively; yet emerging genetic and genomic testing technologies have moved the target earlier in the disease development process to identify a probabilistic predisposition to diseas...

  20. Adult hearing screening: the Cyprus Pilot Program

    C. Thodi

    2011-03-01

    Full Text Available Hearing loss is the third most common condition affecting adults over 65 (Cruickshanks et al., 1998. It can affect quality of life, limiting the ability to communicate efficiently, and leading to isolation, psychological strain, and functional decline (LaForge, Spector, Sternberg, 1992; Yueh, Shapiro, MacLean, Shekelle, 2003. Communication limitations impinge on the person directly, as well as the family, friends, and social circle. Reports on hearing loss among adults indicate that less than 25% of people who can benefit from amplification are actually using hearing aids, and that people diagnosed with a hearing loss delay seeking amplification by about seven years (Kochkin, 1997. Often, family members are the driving force behind a person with a hearing loss who decides to seek help. Adult hearing screening programs might have a positive effect on raising public awareness on hearing loss and its implications, and shortening delay time for intervention. There is no routine hearing screening for the adult population in Cyprus. The health system provides hearing tests for beneficiaries upon physician recommendation or self-referral. The Cyprus pilot adult hearing screening program (ΑΠΑΣ- EVERYONE- Greek acronym for Screening- Intervention-Hearing-Participation to Life screened hearing in retired adults.

  1. Integrated screening concept in women with genetic predisposition for breast cancer

    Bick, U.

    1997-01-01

    Breast cancer is in 5% of cases due to a genetic disposition. BRCA1 and BRCA2 are by far the most common breast cancer susceptibility genes. For a woman with a genetic predisposition, the individual risk of developing breast cancer sometime in her life is between 70 and 90%. Compared to the spontaneous forms of breast cancer, woman with a genetic predisposition often develop breast cancer at a much younger age. This is why conventional screening programs on the basis of mammography alone cannot be applied without modification to this high-risk group. In this article, an integrated screening concept for women with genetic prodisposition for breast cancer using breast self-examination, clinical examination, ultrasound, mammography and magnetic resonance imaging is introduced. (orig.) [de

  2. Influence of a screening navigation program on social inequalities in health beliefs about colorectal cancer screening.

    Vallet, Fanny; Guillaume, Elodie; Dejardin, Olivier; Guittet, Lydia; Bouvier, Véronique; Mignon, Astrid; Berchi, Célia; Salinas, Agnès; Launoy, Guy; Christophe, Véronique

    2016-08-01

    The aim of the study was to test whether a screening navigation program leads to more favorable health beliefs and decreases social inequalities in them. The selected 261 noncompliant participants in a screening navigation versus a usual screening program arm had to respond to health belief measures inspired by the Protection Motivation Theory. Regression analyses showed that social inequalities in perceived efficacy of screening, favorable attitude, and perceived facility were reduced in the screening navigation compared to the usual screening program. These results highlight the importance of health beliefs to understand the mechanism of screening navigation programs in reducing social inequalities. © The Author(s) 2014.

  3. Genetic programming theory and practice XII

    Riolo, Rick; Kotanchek, Mark

    2015-01-01

    These contributions, written by the foremost international researchers and practitioners of Genetic Programming (GP), explore the synergy between theoretical and empirical results on real-world problems, producing a comprehensive view of the state of the art in GP. Topics in this volume include: gene expression regulation, novel genetic models for glaucoma, inheritable epigenetics, combinators in genetic programming, sequential symbolic regression, system dynamics, sliding window symbolic regression, large feature problems, alignment in the error space, HUMIE winners, Boolean multiplexer funct

  4. Genetic screens to identify new Notch pathway mutants in Drosophila.

    Giagtzoglou, Nikolaos

    2014-01-01

    Notch signaling controls a wide range of developmental processes, including proliferation, apoptosis, and cell fate specification during both development and adult tissue homeostasis. The functional versatility of the Notch signaling pathway is tightly linked with the complexity of its regulation in different cellular contexts. To unravel the complexity of Notch signaling, it is important to identify the different components of the Notch signaling pathway. A powerful strategy to accomplish this task is based on genetic screens. Given that the developmental context of signaling is important, these screens should be customized to specific cell populations or tissues. Here, I describe how to perform F1 clonal forward genetic screens in Drosophila to identify novel components of the Notch signaling pathway. These screens combine a classical EMS (ethyl methanesulfonate) chemical mutagenesis protocol along with clonal analysis via FRT-mediated mitotic recombination. These F1 clonal screens allow rapid phenotypic screening within clones of mutant cells induced at specific developmental stages and in tissues of interest, bypassing the pleiotropic effects of isolated mutations. More importantly, since EMS mutations have been notoriously difficult to map to specific genes in the past, I briefly discuss mapping methods that allow rapid identification of the causative mutations.

  5. A Systematic Genetic Screen to Dissect the MicroRNA Pathway in Drosophila.

    Pressman, Sigal; Reinke, Catherine A; Wang, Xiaohong; Carthew, Richard W

    2012-04-01

    A central goal of microRNA biology is to elucidate the genetic program of miRNA function and regulation. However, relatively few of the effectors that execute miRNA repression have been identified. Because such genes may function in many developmental processes, mutations in them are expected to be pleiotropic and thus are discarded in most standard genetic screens. Here, we describe a systematic screen designed to identify all Drosophila genes in ∼40% of the genome that function in the miRNA pathway. To identify potentially pleiotropic genes, the screen analyzed clones of homozygous mutant cells in heterozygous animals. We identified 45 mutations representing 24 genes, and we molecularly characterized 9 genes. These include 4 previously known genes that encode core components of the miRNA pathway, including Drosha, Pasha, Dicer-1, and Ago1. The rest are new genes that function through chromatin remodeling, signaling, and mRNA decapping. The results suggest genetic screens that use clonal analysis can elucidate the miRNA program and that ∼100 genes are required to execute the miRNA program.

  6. Screening history in women with cervical cancer in a Danish population-based screening program

    Kirschner, Benny; Poll, Susanne; Rygaard, Carsten

    2011-01-01

    The aim of this study was to explore the screening histories of all cervical cancers in a Danish screening population. The intention was to decide suboptimal sides of the screening program and to evaluate the significance of routine screening in the development of cervical cancer.......The aim of this study was to explore the screening histories of all cervical cancers in a Danish screening population. The intention was to decide suboptimal sides of the screening program and to evaluate the significance of routine screening in the development of cervical cancer....

  7. Carrier screening in the era of expanding genetic technology.

    Arjunan, Aishwarya; Litwack, Karen; Collins, Nick; Charrow, Joel

    2016-12-01

    The Center for Jewish Genetics provides genetic education and carrier screening to individuals of Jewish descent. Carrier screening has traditionally been performed by targeted mutation analysis for founder mutations with an enzyme assay for Tay-Sachs carrier detection. The development of next-generation sequencing (NGS) allows for higher detection rates regardless of ethnicity. Here, we explore differences in carrier detection rates between genotyping and NGS in a primarily Jewish population. Peripheral blood samples or saliva samples were obtained from 506 individuals. All samples were analyzed by sequencing, targeted genotyping, triplet-repeat detection, and copy-number analysis; the analyses were carried out at Counsyl. Of 506 individuals screened, 288 were identified as carriers of at least 1 condition and 8 couples were carriers for the same disorder. A total of 434 pathogenic variants were identified. Three hundred twelve variants would have been detected via genotyping alone. Although no additional mutations were detected by NGS in diseases routinely screened for in the Ashkenazi Jewish population, 26.5% of carrier results and 2 carrier couples would have been missed without NGS in the larger panel. In a primarily Jewish population, NGS reveals a larger number of pathogenic variants and provides individuals with valuable information for family planning.Genet Med 18 12, 1214-1217.

  8. Bavarian mammography screening program; Bayerisches Mammographiescreening (BMS)

    Willgeroth, F. [Lenkungsausschuss BMS (Germany); Universitaetsfrauenklinik Innenstadt, Muenchen (Germany); Baumann, M.; Blaser, D.; Froschauer, S.; Kaeaeb, V.; Stich, V.; Thomaschewski, S.; Walter, D. [Kassenaerztliche Vereinigung Bayern (Germany); Crispin, A. [Klinikum Grosshadern der LMU Muenchen, Institut fuer Medizinische Informationsverarbeitung (Germany); Waal, J. de; Heywang-Koebrunner, S.; Rothe, R. [Lenkungsausschuss BMS (Germany); Hoelzel, D. [Lenkungsausschuss BMS (Germany); Klinikum Grosshadern der LMU Muenchen, Institut fuer Medizinische Informationsverarbeitung (Germany)

    2005-03-01

    In Bavaria since the 1st April 2003 we have been conducting a high quality mammography-screening carried out in individual practises (BMS). We have used the European and the S 3 guidelines. The best diagnosis is an early diagnosis of the breast carcinoma to save human life. Because of this and the high mortality rate due to this disease it is essential to have a mammogram screening program. There is no single one ideal way of constructing a screening program, it is always based on compromise within the particular health care-systems. Arising problems cannot be avoided, it is only possible when all parties work closely together that the BMS works properly. (orig.) [German] In Bayern laeuft seit dem 01.04.2003 ein qualitaetsgesichertes, flaechendeckendes Mammographiescreening mit dezentralem Charakter (BMS). Zugrunde liegen die Empfehlungen der European Guidelines sowie der S-3-Leitlinie. Die Vorverlegung der Diagnostik ist beim Mammakarzinom bis heute die effektivste Moeglichkeit, um das Leben von Frauen zu retten, die an diesem Krebs erkrankt sind. Daraus und aufgrund der hohen Mortalitaetsrate dieser Erkrankung leitet sich die Notwendigkeit eines Screeningprogramms ab. Dessen Aufbau kann unterschiedlich sein, denbesten Weg gibt es nicht; es wird sich immer eine Kompromissloesung ergeben, die sehr stark vom jeweiligen Gesundheitssystem beeinflusst wird. Auftretende Probleme sind vielschichtig. Nur durch gemeinsame Anstrengungen aller Beteiligten liess sich das Bayerische Mammographiescreening installieren. (orig.)

  9. Genetic screening of prospective parents and of workers: some scientific and social issues.

    Hubbard, R; Henifin, M S

    1985-01-01

    Genetic screening programs are based on assumptions and values that reflect the history of racial and social eugenics in the United States and Europe. They stigmatize individuals by shifting the focus from social, economic, and political decisions that affect the health of prospective parents, newborns, and workers to "bad genes," that is, intrapersonal factors that are given the status of "causes" of disease. Prenatal screening, at best, can help the relatively few individuals who know that their future children are at risk for a particular inherited disease or disability; it has little positive value for the average person. Workplace genetic screening has not been shown to reduce occupational disease, but it has led to employment discrimination and has drawn attention away from controlling exposures to toxic chemicals in the workplace.

  10. A comprehensive platform for highly multiplexed mammalian functional genetic screens

    Cheung-Ong Kahlin

    2011-05-01

    Full Text Available Abstract Background Genome-wide screening in human and mouse cells using RNA interference and open reading frame over-expression libraries is rapidly becoming a viable experimental approach for many research labs. There are a variety of gene expression modulation libraries commercially available, however, detailed and validated protocols as well as the reagents necessary for deconvolving genome-scale gene screens using these libraries are lacking. As a solution, we designed a comprehensive platform for highly multiplexed functional genetic screens in human, mouse and yeast cells using popular, commercially available gene modulation libraries. The Gene Modulation Array Platform (GMAP is a single microarray-based detection solution for deconvolution of loss and gain-of-function pooled screens. Results Experiments with specially constructed lentiviral-based plasmid pools containing ~78,000 shRNAs demonstrated that the GMAP is capable of deconvolving genome-wide shRNA "dropout" screens. Further experiments with a larger, ~90,000 shRNA pool demonstrate that equivalent results are obtained from plasmid pools and from genomic DNA derived from lentivirus infected cells. Parallel testing of large shRNA pools using GMAP and next-generation sequencing methods revealed that the two methods provide valid and complementary approaches to deconvolution of genome-wide shRNA screens. Additional experiments demonstrated that GMAP is equivalent to similar microarray-based products when used for deconvolution of open reading frame over-expression screens. Conclusion Herein, we demonstrate four major applications for the GMAP resource, including deconvolution of pooled RNAi screens in cells with at least 90,000 distinct shRNAs. We also provide detailed methodologies for pooled shRNA screen readout using GMAP and compare next-generation sequencing to GMAP (i.e. microarray based deconvolution methods.

  11. Genetic screening for infertility: When should it be done?

    Elda Kara

    2010-07-01

    Primary amenorrhea should be investigated by karyotype analysis and selected mutation screening according to the patient's clinical features. Karyotype analyses and FMR1 gene screening is recommended in cases of POF. At present the infertility of patients with POF cannot be restored if the diagnosis is made after complete follicular depletion, but in some cases, early diagnosis by genetic investigation may instead lead to the advice of early conception or oocyte harvesting and preservation. In addition, the accumulation and annotation of array comparative genomic hybridization data might, in the near future, lead to the identification of pathogenetic copy number variations and genes involved in POF. Karyotype analysis of both partners is recommended in all couples with recurrent pregnancy loss. No routine genetic test can be recommended so far in patients with PCOS.

  12. Abdominal aortic aneurysm screening program in Poland.

    Jawien, A; Formankiewicz, B; Derezinski, T; Migdalski, A; Brazis, P; Woda, L

    Screening for abdominal aortic aneurysms (AAA) is currently recommended by several vascular societies. In countries where it has been introduced the prevalence of AAAs differed greatly and was mainly related to cigarette smoking. The screening program also had an enormous impact on the decrease of AAA ruptures and reduced mortality rate. These facts have led to the introduction of the first screening program for AAAs in Poland. The aim of the study was to determine the prevalence of AAAs among men aged 60 years and older undergoing ultrasound examination of the abdominal aorta. A single ultrasonography of the abdomen was performed to assess the aorta from the renal arteries to the bifurcation and the diameter of the aorta was measured at its widest point. The cut-off value for determining an aortic aneurysm was set at a diameter of ≥ 30 mm. All ultrasonography measurements were performed by physicians in outpatient departments throughout the Kuyavian-Pomeranian Province. Additionally, each subject had to fill out a questionnaire with demographic data, smoking habits, existing comorbidities and familial occurrence of AAAs. The study was conducted from October 2009 to November 2011. The abdominal aorta ultrasound examinations were carried out in 1556 men aged 60 years and older. The prevalence of AAA in the study population was 6.0 % (94 out of 1556). The average age of the men was 69 years (SD 6 years, range 60-92 years). In the study population 55 % of the men smoked or had smoked and 3 % were aware of the presence of AAAs in family members. There were three risk factors significantly associated with the presence of AAAs: age (p < 0.05), smoking (72.3 % vs 53.9 %, p = 0.004) and family history of AAAs (9.6 % vs 2.7 %, p = 0.017). The prevalence of AAAs among men in Poland is higher than in other European countries and the USA. The screening program for AAAs is an easy and reliable method for detecting early stages of the disease and

  13. Hybrid of Genetic Programming with PBIL

    Caldas, Gustavo Henrique Flores; Schirru, Roberto

    2005-01-01

    Genetic programming and PBIL (Population-Based Incremental Learning) are evolutionary algorithms that have found applications in several fields of application. The Genetic Programming searches a solution allowing that the individuals of a population modify, mainly, its structures. The PBIL, on the other hand, works with individuals of fixed structure and is particularly successful in finding numerical solutions. There are problems where the simultaneous adjustment of the structure and numerical constants in a solution is essential. The Symbolic Regression is an example where both the form and the constants of a mathematical expression must be found. Although the traditional Genetic Programming is capable to solve this problem by itself, it is interesting to explore a cooperation with the PBIL, allowing each algorithm to do only that they do best: the Genetic Programming tries to find a structure while the PBIL adjust the constants that will be enclosed in the structure. In this work, the benchmark 'the sextic polynomial regression problem' is used to compare some traditional techniques of Genetic Programming with the proposed Hybrid of Genetic Programming with PBIL. The results are presented and discussed. (author)

  14. Cervical cancer screening programs in Latin America and the Caribbean.

    Murillo, Raul; Almonte, Maribel; Pereira, Ana; Ferrer, Elena; Gamboa, Oscar A; Jerónimo, José; Lazcano-Ponce, Eduardo

    2008-08-19

    Latin America and the Caribbean (LAC) have a significant burden of cervical cancer. Prophylactic human papillomavirus (HPV) vaccines are an opportunity for primary prevention and new screening methods, such as new HPV DNA testing, are promising alternatives to cytology screening that should be analyzed in the context of regional preventive programs. Cytology-based screening programs have not fulfilled their expectations and coverage does not sufficiently explain the lack of impact on screening in LAC. While improved evaluation of screening programs is necessary to increase the impact of screening on the reduction of incidence and mortality, other programmatic aspects will need to be addressed such as follow-up of positive tests and quality control. The implementation of new technologies might enhance screening performance and reduce mortality in the region. The characteristics, performance and impact of cervical cancer screening programs in LAC are reviewed in this article.

  15. Screening of spontaneous castor bean accesses for genetic ...

    ... discriminant power between the castor bean accesses, being the multivariate analysis efficient in this process. The castor bean accesses ACS-001 CRSP and ACS-001-MASP are promising for introduction in genetic improvement programs of this culture. Keywords: Ricinus communis L., genotype, multivariate statistics, ...

  16. Amblyopia prevention screening program in Northwest Iran (Ardabil

    Habib Ojaghi

    2016-01-01

    Conclusions: The present investigation showed that coverage of amblyopia screening program was not enough in Ardabil Province. To increase the screening accuracy, standard instruments and examination room must be used; more optometrists must be involved in this program and increasing the validity of obtained results for future programming.

  17. Recent advances in preimplantation genetic diagnosis and screening.

    Lu, Lina; Lv, Bo; Huang, Kevin; Xue, Zhigang; Zhu, Xianmin; Fan, Guoping

    2016-09-01

    Preimplantation genetic diagnosis/screening (PGD/PGS) aims to help couples lower the risks of transmitting genetic defects to their offspring, implantation failure, and/or miscarriage during in vitro fertilization (IVF) cycles. However, it is still being debated with regard to the practicality and diagnostic accuracy of PGD/PGS due to the concern of invasive biopsy and the potential mosaicism of embryos. Recently, several non-invasive and high-throughput assays have been developed to help overcome the challenges encountered in the conventional invasive biopsy and low-throughput analysis in PGD/PGS. In this mini-review, we will summarize the recent progresses of these new methods for PGD/PGS and discuss their potential applications in IVF clinics.

  18. Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.

    2012-04-06

    Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. Under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) regulations, laboratory testing is categorized on the basis of the level of testing complexity as either waived (i.e., from routine regulatory oversight) or nonwaived testing (which includes tests of moderate and high complexity). Laboratories that perform biochemical genetic testing are required by CLIA regulations to meet the general quality systems requirements for nonwaived testing and the personnel requirements for high-complexity testing. Laboratories that perform public health newborn screening are subject to the same CLIA regulations and applicable state requirements. As the number of inherited metabolic diseases that are included in state-based newborn screening programs continues to increase, ensuring the quality of performance and delivery of testing services remains a continuous challenge not only for public health laboratories and other newborn screening facilities but also for biochemical genetic testing laboratories. To help ensure the quality of laboratory testing, CDC collaborated with the Centers for Medicare & Medicaid Services, the Food and Drug Administration, the Health Resources and Services Administration, and the National Institutes of Health to develop guidelines for laboratories to meet CLIA requirements and apply additional quality assurance measures for these areas of genetic testing. This report provides recommendations for good laboratory practices that were developed based on recommendations from the Clinical Laboratory Improvement Advisory Committee, with additional input from the Secretary's Advisory Committee on Genetics, Health, and Society; the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; and representatives of newborn

  19. Preimplantation genetic diagnosis and screening: Current status and future challenges

    Hsin-Fu Chen

    2018-02-01

    Full Text Available Preimplantation genetic diagnosis (PGD is a clinically feasible technology to prevent the transmission of monogenic inherited disorders in families afflicted the diseases to the future offsprings. The major technical hurdle is it does not have a general formula for all mutations, thus different gene locus needs individualized, customized design to make the diagnosis accurate enough to be applied on PGD, in which the quantity of DNA is scarce, whereas timely result is sometimes requested if fresh embryo transfer is desired. On the other hand, preimplantation genetic screening (PGS screens embryo with aneuploidy and was also known as PGD-A (A denotes aneuploidy in order to enhance the implantation rates as well as livebirth rates. In contrasts to PGD, PGS is still under ferocious debate, especially recent reports found that euploid babies were born after transferring the aneuploid embryos diagnosed by PGS back to the womb and only very few randomized trials of PGS are available in the literature. We have been doing PGD and/or PGS for more than 10 years as one of the core PGD/PGS laboratories in Taiwan. Here we provide a concise review of PGD/PGS regarding its current status, both domestically and globally, as well as its future challenges.

  20. Pooled-matrix protein interaction screens using Barcode Fusion Genetics.

    Yachie, Nozomu; Petsalaki, Evangelia; Mellor, Joseph C; Weile, Jochen; Jacob, Yves; Verby, Marta; Ozturk, Sedide B; Li, Siyang; Cote, Atina G; Mosca, Roberto; Knapp, Jennifer J; Ko, Minjeong; Yu, Analyn; Gebbia, Marinella; Sahni, Nidhi; Yi, Song; Tyagi, Tanya; Sheykhkarimli, Dayag; Roth, Jonathan F; Wong, Cassandra; Musa, Louai; Snider, Jamie; Liu, Yi-Chun; Yu, Haiyuan; Braun, Pascal; Stagljar, Igor; Hao, Tong; Calderwood, Michael A; Pelletier, Laurence; Aloy, Patrick; Hill, David E; Vidal, Marc; Roth, Frederick P

    2016-04-22

    High-throughput binary protein interaction mapping is continuing to extend our understanding of cellular function and disease mechanisms. However, we remain one or two orders of magnitude away from a complete interaction map for humans and other major model organisms. Completion will require screening at substantially larger scales with many complementary assays, requiring further efficiency gains in proteome-scale interaction mapping. Here, we report Barcode Fusion Genetics-Yeast Two-Hybrid (BFG-Y2H), by which a full matrix of protein pairs can be screened in a single multiplexed strain pool. BFG-Y2H uses Cre recombination to fuse DNA barcodes from distinct plasmids, generating chimeric protein-pair barcodes that can be quantified via next-generation sequencing. We applied BFG-Y2H to four different matrices ranging in scale from ~25 K to 2.5 M protein pairs. The results show that BFG-Y2H increases the efficiency of protein matrix screening, with quality that is on par with state-of-the-art Y2H methods. © 2016 The Authors. Published under the terms of the CC BY 4.0 license.

  1. Genetic and epigenetic markers in colorectal cancer screening: recent advances.

    Singh, Manish Pratap; Rai, Sandhya; Suyal, Shradha; Singh, Sunil Kumar; Singh, Nand Kumar; Agarwal, Akash; Srivastava, Sameer

    2017-07-01

    Colorectal cancer (CRC) is a heterogenous disease which develops from benign intraepithelial lesions known as adenomas to malignant carcinomas. Acquired alterations in Wnt signaling, TGFβ, MAPK pathway genes and clonal propagation of altered cells are responsible for this transformation. Detection of adenomas or early stage cancer in asymptomatic patients and better prognostic and predictive markers is important for improving the clinical management of CRC. Area covered: In this review, the authors have evaluated the potential of genetic and epigenetic alterations as markers for early detection, prognosis and therapeutic predictive potential in the context of CRC. We have discussed molecular heterogeneity present in CRC and its correlation to prognosis and response to therapy. Expert commentary: Molecular marker based CRC screening methods still fail to gain trust of clinicians. Invasive screening methods, molecular heterogeneity, chemoresistance and low quality test samples are some key challenges which need to be addressed in the present context. New sequencing technologies and integrated omics data analysis of individual or population cohort results in GWAS. MPE studies following a GWAS could be future line of research to establish accurate correlations between CRC and its risk factors. This strategy would identify most reliable biomarkers for CRC screening and management.

  2. [Psychological distress in applicants for genetic screening for colorectal cancer].

    Fantini, C; Pedinielli, J-L; Manouvrier, S

    2007-01-01

    Introduction. The development of a DNA based diagnostic test has allowed for the genetic screening of many hereditary diseases. In addition to the identification of the deleterious gene, this screening process has led to the recognition of developing illnesses at high risk. In recent years, a number of genes predisposing to an inherited cancer syndrome have been identified. Our purpose in this study was to determine whether subjects at risk who test for inherited colorectal cancer, are likely to develop a higher level of psychological distress than the norm, taking into consideration the particular history of this familial disease. The demographic and psychosocial aspects of our population was described using: 1) the State Trait Anxiety Inventory (STAI), 2) the Center for Epidemiologic Studies Depression (CES-D), 3) a perceived risk for the gene carrier, 4) subjective perception of personal vulnerability and 5) the role of the medical status (affected or not), which places the subject in either predisposition or predictive testing. Results show that our population had a higher predisposition for depressive disorders (chi2=9,3. p=0.002) and a significantly higher state of anxiety (chi2=9,3. p=0.002), prior to genetic counselling, compared with other populations. We found no evidence in the medical status, nor the perceived risk. However, the assessment of one's own personal vulnerability is related to psychological distress. These results highlight the particular vulnerability of subjects undergoing genetic testing as well as showing the pertinence of proposing psychological help throughout the process of these new specific diagnoses.

  3. Genetically programmed chiral organoborane synthesis

    Kan, S. B. Jennifer; Huang, Xiongyi; Gumulya, Yosephine; Chen, Kai; Arnold, Frances H.

    2017-12-01

    Recent advances in enzyme engineering and design have expanded nature’s catalytic repertoire to functions that are new to biology. However, only a subset of these engineered enzymes can function in living systems. Finding enzymatic pathways that form chemical bonds that are not found in biology is particularly difficult in the cellular environment, as this depends on the discovery not only of new enzyme activities, but also of reagents that are both sufficiently reactive for the desired transformation and stable in vivo. Here we report the discovery, evolution and generalization of a fully genetically encoded platform for producing chiral organoboranes in bacteria. Escherichia coli cells harbouring wild-type cytochrome c from Rhodothermus marinus (Rma cyt c) were found to form carbon-boron bonds in the presence of borane-Lewis base complexes, through carbene insertion into boron-hydrogen bonds. Directed evolution of Rma cyt c in the bacterial catalyst provided access to 16 novel chiral organoboranes. The catalyst is suitable for gram-scale biosynthesis, providing up to 15,300 turnovers, a turnover frequency of 6,100 h-1, a 99:1 enantiomeric ratio and 100% chemoselectivity. The enantiopreference of the biocatalyst could also be tuned to provide either enantiomer of the organoborane products. Evolved in the context of whole-cell catalysts, the proteins were more active in the whole-cell system than in purified forms. This study establishes a DNA-encoded and readily engineered bacterial platform for borylation; engineering can be accomplished at a pace that rivals the development of chemical synthetic methods, with the ability to achieve turnovers that are two orders of magnitude (over 400-fold) greater than those of known chiral catalysts for the same class of transformation. This tunable method for manipulating boron in cells could expand the scope of boron chemistry in living systems.

  4. Using genetic programming to find Lyapunov functions

    Soute, I.A.C.; Molengraft, van de M.J.G.; Angelis, G.Z.; Ryan, C; Spector, L.

    2001-01-01

    In this paper Genetic Programming is used to find Lyapunov functions for (non)linear dif ferential equations of autonomous systems. As Lyapunov functions can be difficult to find, we use OP to make the decisions concerning the form of the Lyapunov function. As an e5cample two systems are taken to

  5. Genetic Network Programming with Reconstructed Individuals

    Ye, Fengming; Mabu, Shingo; Wang, Lutao; Eto, Shinji; Hirasawa, Kotaro

    A lot of research on evolutionary computation has been done and some significant classical methods such as Genetic Algorithm (GA), Genetic Programming (GP), Evolutionary Programming (EP), and Evolution Strategies (ES) have been studied. Recently, a new approach named Genetic Network Programming (GNP) has been proposed. GNP can evolve itself and find the optimal solution. It is based on the idea of Genetic Algorithm and uses the data structure of directed graphs. Many papers have demonstrated that GNP can deal with complex problems in the dynamic environments very efficiently and effectively. As a result, recently, GNP is getting more and more attentions and is used in many different areas such as data mining, extracting trading rules of stock markets, elevator supervised control systems, etc., and GNP has obtained some outstanding results. Focusing on the GNP's distinguished expression ability of the graph structure, this paper proposes a method named Genetic Network Programming with Reconstructed Individuals (GNP-RI). The aim of GNP-RI is to balance the exploitation and exploration of GNP, that is, to strengthen the exploitation ability by using the exploited information extensively during the evolution process of GNP and finally obtain better performances than that of GNP. In the proposed method, the worse individuals are reconstructed and enhanced by the elite information before undergoing genetic operations (mutation and crossover). The enhancement of worse individuals mimics the maturing phenomenon in nature, where bad individuals can become smarter after receiving a good education. In this paper, GNP-RI is applied to the tile-world problem which is an excellent bench mark for evaluating the proposed architecture. The performance of GNP-RI is compared with that of the conventional GNP. The simulation results show some advantages of GNP-RI demonstrating its superiority over the conventional GNPs.

  6. Internet-Based Cervical Cancer Screening Program

    Wilbur, David C; Crothers, Barbara A; Eichhorn, John H; Ro, Min S; Gelfand, Jeffrey A

    2008-01-01

    This project explores the combination of computerized automated primary screening of cervical cytology specimens in remote sites with interpretation of device-selected images transmitted via the Internet...

  7. Internet-Based Cervical Cytology Screening Program

    Wilbur, David C; Crothers, Barbara A; Eichhorn, John H; Ro, Min S; Gelfand, Jeffrey A

    2006-01-01

    This project explores the combination of computerized automated primary screening of cervical cytology specimens in remote sites with interpretation of device-selected images transmitted via the Internet...

  8. The cumulative risk of false-positive screening results across screening centres in the Norwegian Breast Cancer Screening Program

    Roman, M., E-mail: Marta.Roman@kreftregisteret.no [Cancer Registry of Norway, Oslo (Norway); Department of Women and Children’s Health, Oslo University Hospital, Oslo (Norway); Skaane, P., E-mail: PERSK@ous-hf.no [Department of Radiology, Oslo University Hospital Ullevaal, University of Oslo, Oslo (Norway); Hofvind, S., E-mail: Solveig.Hofvind@kreftregisteret.no [Cancer Registry of Norway, Oslo (Norway); Oslo and Akershus University College of Applied Sciences, Faculty of Health Science, Oslo (Norway)

    2014-09-15

    Highlights: • We found variation in early performance measures across screening centres. • Radiologists’ performance may play a key role in the variability. • Potential to improve the effectiveness of breast cancer screening programs. • Continuous surveillance of screening centres and radiologists is essential. - Abstract: Background: Recall for assessment in mammographic screening entails an inevitable number of false-positive screening results. This study aimed to investigate the variation in the cumulative risk of a false positive screening result and the positive predictive value across the screening centres in the Norwegian Breast Cancer Screening Program. Methods: We studied 618,636 women aged 50–69 years who underwent 2,090,575 screening exams (1996–2010. Recall rate, positive predictive value, rate of screen-detected cancer, and the cumulative risk of a false positive screening result, without and with invasive procedures across the screening centres were calculated. Generalized linear models were used to estimate the probability of a false positive screening result and to compute the cumulative false-positive risk for up to ten biennial screening examinations. Results: The cumulative risk of a false-positive screening exam varied from 10.7% (95% CI: 9.4–12.0%) to 41.5% (95% CI: 34.1–48.9%) across screening centres, with a highest to lowest ratio of 3.9 (95% CI: 3.7–4.0). The highest to lowest ratio for the cumulative risk of undergoing an invasive procedure with a benign outcome was 4.3 (95% CI: 4.0–4.6). The positive predictive value of recall varied between 12.0% (95% CI: 11.0–12.9%) and 19.9% (95% CI: 18.3–21.5%), with a highest to lowest ratio of 1.7 (95% CI: 1.5–1.9). Conclusions: A substantial variation in the performance measures across the screening centres in the Norwegian Breast Cancer Screening Program was identified, despite of similar administration, procedures, and quality assurance requirements. Differences in the

  9. The cumulative risk of false-positive screening results across screening centres in the Norwegian Breast Cancer Screening Program

    Roman, M.; Skaane, P.; Hofvind, S.

    2014-01-01

    Highlights: • We found variation in early performance measures across screening centres. • Radiologists’ performance may play a key role in the variability. • Potential to improve the effectiveness of breast cancer screening programs. • Continuous surveillance of screening centres and radiologists is essential. - Abstract: Background: Recall for assessment in mammographic screening entails an inevitable number of false-positive screening results. This study aimed to investigate the variation in the cumulative risk of a false positive screening result and the positive predictive value across the screening centres in the Norwegian Breast Cancer Screening Program. Methods: We studied 618,636 women aged 50–69 years who underwent 2,090,575 screening exams (1996–2010. Recall rate, positive predictive value, rate of screen-detected cancer, and the cumulative risk of a false positive screening result, without and with invasive procedures across the screening centres were calculated. Generalized linear models were used to estimate the probability of a false positive screening result and to compute the cumulative false-positive risk for up to ten biennial screening examinations. Results: The cumulative risk of a false-positive screening exam varied from 10.7% (95% CI: 9.4–12.0%) to 41.5% (95% CI: 34.1–48.9%) across screening centres, with a highest to lowest ratio of 3.9 (95% CI: 3.7–4.0). The highest to lowest ratio for the cumulative risk of undergoing an invasive procedure with a benign outcome was 4.3 (95% CI: 4.0–4.6). The positive predictive value of recall varied between 12.0% (95% CI: 11.0–12.9%) and 19.9% (95% CI: 18.3–21.5%), with a highest to lowest ratio of 1.7 (95% CI: 1.5–1.9). Conclusions: A substantial variation in the performance measures across the screening centres in the Norwegian Breast Cancer Screening Program was identified, despite of similar administration, procedures, and quality assurance requirements. Differences in the

  10. Applying theological developments to bioethical issues such as genetic screening.

    Mallia, Pierre; ten Have, Henk

    2005-01-01

    Catholic movements within the centre of Roman Catholic doctrine recently have discussed Trinitarian theology as applied to sciences, arts, economics, health and other social areas. We explore the possibilities Trinitarian theology offers to bioethical debate, concentrating particularly on genetic screening and testing. It is important therefore to analyse the philosophical implications of this approach onto the bioethical world, where much disagreement occurs on fundamental issues. It is Catholic basic teaching to recognize and see God's hand in plurality, not merely as a cliche and then doing what we feel is right, but to recognize how to live in a pluralistic world. We recognize, in agreement with these theologians, that in order for a Trinitarian mode of understanding to be used by those doing bioethical debate, there is a need to depart from fundamentalism.

  11. Positive predictive values by mammographic density and screening mode in the Norwegian Breast Cancer Screening Program.

    Moshina, Nataliia; Ursin, Giske; Roman, Marta; Sebuødegård, Sofie; Hofvind, Solveig

    2016-01-01

    To investigate the probability of breast cancer among women recalled due to abnormal findings on the screening mammograms (PPV-1) and among women who underwent an invasive procedure (PPV-2) by mammographic density (MD), screening mode and age. We used information about 28,826 recall examinations from 26,951 subsequently screened women in the Norwegian Breast Cancer Screening Program, 1996-2010. The radiologists who performed the recall examinations subjectively classified MD on the mammograms into three categories: fatty (70%). Screening mode was defined as screen-film mammography (SFM) and full-field digital mammography (FFDM). We examined trends of PPVs by MD, screening mode and age. We used logistic regression to estimate odds ratio (OR) of screen-detected breast cancer associated with MD among women recalled, adjusting for screening mode and age. PPV-1 and PPV-2 decreased by increasing MD, regardless of screening mode (p for trend breasts. Among women recalled, the adjusted OR of breast cancer decreased with increasing MD. Compared with women with fatty breasts, the OR was 0.90 (95% CI: 0.84-0.96) for those with medium dense breasts and 0.85 (95% CI: 0.76-0.95) for those with dense breasts. PPVs decreased by increasing MD. Fewer women needed to be recalled or undergo an invasive procedure to detect one breast cancer among those with fatty versus dense breasts in the screening program in Norway, 1996-2010. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  12. The Potential Cost-Effectiveness of Amblyopia Screening Programs

    Rein, David B.; Wittenborn, John S.; Zhang, Xinzhi; Song, Michael; Saaddine, Jinan B.

    2013-01-01

    Background To estimate the incremental cost-effectiveness of amblyopia screening at preschool and kindergarten, we compared the costs and benefits of 3 amblyopia screening scenarios to no screening and to each other: (1) acuity/stereopsis (A/S) screening at kindergarten, (2) A/S screening at preschool and kindergarten, and (3) photoscreening at preschool and A/S screening at kindergarten. Methods We programmed a probabilistic microsimulation model of amblyopia natural history and response to treatment with screening costs and outcomes estimated from 2 state programs. We calculated the probability that no screening and each of the 3 interventions were most cost-effective per incremental quality-adjusted life year (QALY) gained and case avoided. Results Assuming a minimal 0.01 utility loss from monocular vision loss, no screening was most cost-effective with a willingness to pay (WTP) of less than $16,000 per QALY gained. A/S screening at kindergarten alone was most cost-effective between a WTP of $17,000 and $21,000. A/S screening at preschool and kindergarten was most cost-effective between a WTP of $22,000 and $75,000, and photoscreening at preschool and A/S screening at kindergarten was most cost-effective at a WTP greater than $75,000. Cost-effectiveness substantially improved when assuming a greater utility loss. All scenarios were cost-effective when assuming a WTP of $10,500 per case of amblyopia cured. Conclusions All 3 screening interventions evaluated are likely to be considered cost-effective relative to many other potential public health programs. The choice of screening option depends on budgetary resources and the value placed on monocular vision loss prevention by funding agencies. PMID:21877675

  13. Applications of genetic programming in cancer research.

    Worzel, William P; Yu, Jianjun; Almal, Arpit A; Chinnaiyan, Arul M

    2009-02-01

    The theory of Darwinian evolution is the fundamental keystones of modern biology. Late in the last century, computer scientists began adapting its principles, in particular natural selection, to complex computational challenges, leading to the emergence of evolutionary algorithms. The conceptual model of selective pressure and recombination in evolutionary algorithms allow scientists to efficiently search high dimensional space for solutions to complex problems. In the last decade, genetic programming has been developed and extensively applied for analysis of molecular data to classify cancer subtypes and characterize the mechanisms of cancer pathogenesis and development. This article reviews current successes using genetic programming and discusses its potential impact in cancer research and treatment in the near future.

  14. Genetic programming theory and practice X

    Riolo, Rick; Ritchie, Marylyn D; Moore, Jason H

    2013-01-01

    These contributions, written by the foremost international researchers and practitioners of Genetic Programming (GP), explore the synergy between theoretical and empirical results on real-world problems, producing a comprehensive view of the state of the art in GP. Topics in this volume include: evolutionary constraints, relaxation of selection mechanisms, diversity preservation strategies, flexing fitness evaluation, evolution in dynamic environments, multi-objective and multi-modal selection, foundations of evolvability, evolvable and adaptive evolutionary operators, foundation of  injecting

  15. Vitrified/warmed single blastocyst transfer in preimplantation genetic diagnosis/preimplantation genetic screening cycles.

    Huang, Jin; Li, Rong; Lian, Ying; Chen, Lixue; Shi, Xiaodan; Qiao, Jie; Liu, Ping

    2015-01-01

    To investigate the single blastocyst transfer in preimplantation genetic diagnosis (PGD)/preimplantation genetic screening (PGS) cycles. 80 PGD/PGS cycles undergoing blastocyst biopsy were studied. There were 88 warming cycles during the study period. Only one warmed blastocyst was transferred per cycle. The outcomes were followed up to the infants were born. The embryo implantation rate was 54.55% (48/88). The clinical pregnancy rate was 54.55% (48/88) per transfer cycle and 60% (48/80) per initial PGD/PGS cycle. There was no multi-pregnant in this study. The live birth rate was 42.05% (37/88) per transfer cycle and 46.25% (37/80) per initial PGD/PGS cycle. In PGD/PGS cycles, single blastocyst transfer reduces the multiple pregnancy rate without affecting the clinical outcomes.

  16. Quality control in screening programs for cervical cancer

    Sarduy Napoles, Miguel

    2012-01-01

    The malignancy of the cervix is one of the few locations avoidable cancers, if detected before it progresses to the infiltration. The most efficient way of early detection is through a screening program to provide women undertaking a regular and quality Pap smear. If this test results abnormal, the program offers easier access to specialized care, effective treatment, and follow-up. The objective of this article is to present usefulness of methods for quality control used in screening programs for cervical cancer to detect their inadequacies. Here are some factors and conditions that must be considered in each of the steps to take, for a cervical cancer screening program to be successful and to meet the objectives proposed in reducing mortality due to this cause. This document contains some useful indexes calculated to ensure quality throughout the process. There should be the measurement of quality throughout the screening process that allows collecting of reliable data as well as correcting deficiencies

  17. [Molecular genetic diagnostics and screening of hereditary hemochromatosis].

    Zlocha, J; Kovács, L; Pozgayová, S; Kupcová, V; Durínová, S

    2006-06-01

    identified through biochemical testing for iron overload using serum transferrin saturation and genetic testing for C282Y homozygosity. DNA analysis is recommended in patients whose transferrin saturation is 45% or more on a repeated test. General population screening has been waived in preference to targeting high-risk groups such as first-degree relatives of affected individuals and those with secondary iron overload, especially patients with chronic liver disorders and chronic anemia. This screening strategy is likely to continue until uncertainties regarding the natural history of the disease, age-related penetrance, and management of asymptomatic individuals are clarified.

  18. The direct cost of "Thriasio" school screening program

    Maziotou Christina

    2007-05-01

    Full Text Available Abstract Background There is great diversity in the policies for scoliosis screening worldwide. The initial enthusiasm was succeeded by skepticism and the worth of screening programs has been challenged. The criticisms of school screening programs cite mainly the negative psychological impact on children and their families and the increased financial cost of visits and follow-up radiographs. The purpose of this report is to evaluate the direct cost of performing the school screening in a district hospital. Methods A cost analysis was performed for the estimation of the direct cost of the "Thriasio" school-screening program between January 2000 and May 2006. The analysis involved all the 6470 pupils aged 6–18 years old who were screened at schools for spinal deformities during this period. The factors which were taken into consideration in order to calculate the direct cost of the screening program were a the number of the examiners b the working hours, c the examiners' salary, d the cost of transportation and finally e the cost of examination per child. Results During the examined period 20 examiners were involved in the program and worked for 1949 working hours. The hourly salary for the trainee doctors was 6.80 euro, for the Health Visitors 6.70 euro and for the Physiotherapists 5.50 euro in current prices. The cost of transportation was 32 euro per year. The direct cost for the examination of each child for the above studied period was calculated to be 2.04 euro. Conclusion The cost of our school-screening program is low. The present study provides a strong evidence for the continuation of the program when looking from a financial point of view.

  19. Smoking cessation results in a clinical lung cancer screening program.

    Borondy Kitts, Andrea K; McKee, Andrea B; Regis, Shawn M; Wald, Christoph; Flacke, Sebastian; McKee, Brady J

    2016-07-01

    Lung cancer screening may provide a "teachable moment" for promoting smoking cessation. This study assessed smoking cessation and relapse rates among individuals undergoing follow-up low-dose chest computed tomography (CT) in a clinical CT lung screening program and assessed the influence of initial screening results on smoking behavior. Self-reported smoking status for individuals enrolled in a clinical CT lung screening program undergoing a follow-up CT lung screening exam between 1st February, 2014 and 31st March, 2015 was retrospectively reviewed and compared to self-reported smoking status using a standardized questionnaire at program entry. Point prevalence smoking cessation and relapse rates were calculated across the entire population and compared with exam results. All individuals undergoing screening fulfilled the National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology: Lung Cancer Screening v1.2012(®) high-risk criteria and had an order for CT lung screening. A total of 1,483 individuals underwent a follow-up CT lung screening exam during the study interval. Smoking status at time of follow-up exam was available for 1,461/1,483 (98.5%). A total of 46% (678/1,461) were active smokers at program entry. The overall point prevalence smoking cessation and relapse rates were 20.8% and 9.3%, respectively. Prior positive screening exam results were not predictive of smoking cessation (OR 1.092; 95% CI, 0.715-1.693) but were predictive of reduced relapse among former smokers who had stopped smoking for 2 years or less (OR 0.330; 95% CI, 0.143-0.710). Duration of program enrollment was predictive of smoking cessation (OR 0.647; 95% CI, 0.477-0.877). Smoking cessation and relapse rates in a clinical CT lung screening program rates are more favorable than those observed in the general population. Duration of participation in the screening program correlated with increased smoking cessation rates. A positive exam result correlated with reduced

  20. ["Screening" in special situations. Assessing predictive genetic screening for hereditary breast and colorectal cancer].

    Jonas, Susanna; Wild, Claudia; Schamberger, Chantal

    2003-02-01

    mastectomy (PM) reduces the relative breast cancer risk by approximately 90%. The question is if PM has an impact on mortality. The acceptance of PM is culture-dependent. Colectomy can be used as a prophylactic (FAP) and therapeutic method. After surgery, the cancer risk remains high and so early detection examinations are still necessary. EVIDENCE-BASED STATEMENTS: The evidence is often fragmentary and of limited quality. For objective test result presentation information about sensitivity, specificity, positive predictive value, and number needed to screen and treat, respectively, are necessary. New identification of mutations and demand will lead to an increase of predictive genetic counselling and testing. There is a gap between predictive genetic diagnosis and prediction, prevention, early detection and surgical interventions. These circumstances require a basic strategy. Since predictive genetic diagnosis is a very sensitive issue it is important to deal with it carefully in order to avoid inappropriate hopes. Thus, media, experts and politicians need to consider opportunities and limitations in their daily decision-making processes.

  1. A screening on Specific Learning Disorders in an Italian speaking high genetic homogeneity area.

    Cappa, Claudia; Giulivi, Sara; Schilirò, Antonino; Bastiani, Luca; Muzio, Carlo; Meloni, Fabrizio

    2015-01-01

    The aim of the present research is to investigate the prevalence of Specific Learning Disorders (SLD) in Ogliastra, an area of the island of Sardinia, Italy. Having experienced centuries of isolation, Ogliastra has become a high genetic homogeneity area, and is considered particularly interesting for studies on different kinds of pathologies. Here we are going to describe the results of a screening carried out throughout 2 consecutive years in 49 second grade classes (24 considered in the first year and 25 in the second year of the study) of the Ogliastra region. A total of 610 pupils (average age 7.54 years; 293 female, 317 male) corresponding to 68.69% of all pupils who were attending second grade in the area, took part in the study. The tool used for the screening was "RSR-DSA. Questionnaire for the detection of learning difficulties and disorders", which allowed the identification of 83 subjects at risk (13.61% of the whole sample involved in the study). These subjects took part in an enhancement training program of about 6 months. After the program, pupils underwent assessment for reading, writing and calculation abilities, as well as cognitive assessment. According to the results of the assessment, the prevalence of SLDs is 6.06%. For what concerns dyslexia, 4.75% of the total sample manifested this disorder either in isolation or in comorbidity with other disorders. According to the first national epidemiological investigation carried out in Italy, the prevalence of dyslexia is 3.1-3.2%, which is lower than the prevalence obtained in the present study. Given the genetic basis of SLDs, this result, together with the presence of several cases of SLD in isolation (17.14%) and with a 3:1 ratio of males to females diagnosed with a SLD, was to be expected in a sample coming from a high genetic homogeneity area. Copyright © 2015 Elsevier Ltd. All rights reserved.

  2. A NEW MUTATION OPERATOR IN GENETIC PROGRAMMING

    Anuradha Purohit

    2013-01-01

    Full Text Available This paper proposes a new type of mutation operator, FEDS (Fitness, Elitism, Depth, and Size mutation in genetic programming. The concept behind the new mutation operator is inspired from already introduced FEDS crossover operator to handle the problem of code bloating. FEDS mutation operates by using local elitism replacement in combination with depth limit and size of the trees to reduce bloat with a subsequent improvement in the performance of trees (program structures. We have designed a multiclass classifier for some benchmark datasets to test the performance of proposed mutation. The results show that when the initial run uses FEDS crossover and the concluding run uses FEDS mutation, then not only is the final result significantly improved but there is reduction in bloat also.

  3. Employment discrimination implications of genetic screening in the workplace under Title VII and the Rehabilitation Act.

    Canter, E F

    1984-01-01

    The emergence of genetic screening techniques will permit employers to exclude hypersusceptible individuals from potentially hazardous workplace environments. The denial of employment opportunities to these individuals, however, may constitute discrimination. This Note analyzes genetic screening cases with respect to currently available remedies contained in Title VII of the Civil Rights Act of 1964 and the Rehabilitation Act of 1973. The Note concludes that Title VII claims may succeed but only in limited circumstances and that Rehabilitation Act claims will encounter numerous obstacles to relief. Additionally, the Note discusses some of the implications of the use of genetic screening in the workplace.

  4. Overcoming barriers in HPV vaccination and screening programs

    Alex Vorsters

    2017-12-01

    Full Text Available The Human Papillomavirus Prevention and Control Board brought together experts to discuss optimizing HPV vaccination and screening programs.Board members reviewed the safety profile of licensed HPV vaccines based on clinical and post-marketing data, reaching a consensus that current safety data is reassuring.Successful vaccination programs used well-coordinated communication campaigns, integrating (social media to spread awareness. Communication of evidence supporting vaccine effectiveness had beneficial effects on the perception of the vaccine. However, anti-vaccination campaigns have threatened existing programs in many countries.Measurement and monitoring of HPV vaccine confidence over time could help understand the nature and scale of waning confidence, define issues and intervene appropriately using context-specific evidence-based strategies. Finally, a broad group of stakeholders, such as teachers, health care providers and the media should also be provided with accurate information and training to help support prevention efforts through enhanced understanding of the risks and benefits of vaccination.Similarly, while cervical cancer screening through population-based programs is highly effective, barriers to screening exist: awareness in countries with population-based screening programs, access for vulnerable populations, and access and affordability in low- and middle-income countries. Integration of primary and secondary prevention has the potential to accelerate the decrease in cervical cancer incidence. Keywords: (max 6 Human papillomavirus, Vaccine, Screening, Barriers, Vaccine confidence

  5. Basic elements for breast screening programs for Rwanda

    Abenanye, Emmanuel

    2015-02-01

    Mammography refers to the X-ray examination of the human breast, and is considered the single most important diagnostic tool in the early detection of breast cancer, which is by far the most common cancer among women. There is good evidence from clinical trials, that mammographic screening can reduce the breast cancer mortality with about 30%. The side effects include a small and age related risk of carcinogenesis due to the exposure of the glandular tissues in the breast to ionizing radiation. As for all X-ray examinations, and of special importance when investigating large populations of asymptomatic women, the relationship between radiation risk and diagnostic accuracy in mammography must be optimized. The overall objective of this thesis was to investigate and improve methods for average glandular dose (AGD) and image quality evaluation in mammography and provide some practical guidance. To assess the behavioral factors influencing breast screening the best set up of the mammography unit as well as equipment construction and the skills of people operating the machines in terms of the radiation protection screening programs. There has been doubts about the efficiency of so called service screening, i.e. routine screening programs (Sjonell and Stahle, 1999), but there is evidence suggesting a reduction of breast cancer mortality similar to that observed in the randomised trials (Duffy et al. 2002). However no study has been carried out in Rwanda of this nature to see what are the basic breast screening elements and behavioral elements that influence it. Therefore, the factors that influence women's mammography screening behavior is an important issue to be uncovered, in order to facilitate the understanding of such a behavior. This report sets out to investigate the factors that influence participation in mammography screening in Rwanda. Such an investigation aims to raise the awareness of health care providers of the factors that influence Rwanda's women

  6. Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.

    Alfadhel, Majid; Al Othaim, Ali; Al Saif, Saif; Al Mutairi, Fuad; Alsayed, Moeenaldeen; Rahbeeni, Zuhair; Alzaidan, Hamad; Alowain, Mohammed; Al-Hassnan, Zuhair; Saeedi, Mohamad; Aljohery, Saeed; Alasmari, Ali; Faqeih, Eissa; Alwakeel, Mansour; AlMashary, Maher; Almohameed, Sulaiman; Alzahrani, Mohammed; Migdad, Abeer; Al-Dirbashi, Osama Y; Rashed, Mohamed; Alamoudi, Mohamed; Jacob, Minnie; Alahaidib, Lujane; El-Badaoui, Fahd; Saadallah, Amal; Alsulaiman, Ayman; Eyaid, Wafaa; Al-Odaib, Ali

    2017-06-01

    To address the implementation of the National Newborn Screening Program (NBS) in Saudi Arabia and stratify the incidence of the screened disorders. A retrospective study conducted between 1 August 2005 and 31 December 2012, total of 775 000 newborns were screened from 139 hospitals distributed among all regions of Saudi Arabia. The NBS Program screens for 16 disorders from a selective list of inborn errors of metabolism (IEM) and endocrine disorders. Heel prick dry blood spot samples were obtained from all newborns for biochemical and immunoassay testing. Recall screening testing was performed for Initial positive results and confirmed by specific biochemical assays. A total of 743 cases were identified giving an overall incidence of 1:1043. Frequently detected disorders nationwide were congenital hypothyroidism and congenital adrenal hyperplasia with an incidence of 1:7175 and 1:7908 correspondingly. The highest incidence among the IEM was propionic acidaemia with an incidence rate of 1:14 000. The article highlights the experience of the NBS Program in Saudi Arabia and providing data on specific regional incidences of all the screened disorders included in the programme; and showed that the incidence of these disorders is one of the highest reported so far world-wide. © 2017 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

  7. Genetic screening in the Persian Jewish community: A pilot study.

    Kaback, Michael; Lopatequi, Jean; Portuges, Amin Riley; Quindipan, Cathy; Pariani, Mitchel; Salimpour-Davidov, Nilou; Rimoin, David L

    2010-10-01

    Israeli investigators have identified several relatively frequent disorders due to founder point mutations in Persian (Iranian) Jews, who, for nearly three centuries up to the Islamic Revolution of 1979, were completely isolated reproductively. Using a community-based model previously employed with Tay-Sachs disease prevention, we developed a pilot program for the Persian Jewish community of greater Los Angeles. We screened for mutations responsible for four relatively frequent autosomal recessive conditions in Persian Jews in which effective interventions are available for each: Pseudocholinesterase deficiency (butyryl cholinesterase deficiency); Congenital hypoaldosteronism (corticosterone methyl oxidase II); Autoimmune polyendocrinopathy (autoimmune regulatory element); and Hereditary Inclusion Body myopathy. One thousand individuals volunteered. Mutations were assessed in saliva-derived DNA and were positive for 121/1000 butyryl cholinesterase deficiency; 92/1000 Hereditary Inclusion Body myopathy; 38/1000 corticosterone methyl oxidase II; and 37/1000 autoimmune regulatory element. Ten homozygous individuals (9 butyryl cholinesterase deficiency and 1 Hereditary Inclusion Body myopathy) and 10 "at-risk" couples (seven for butyryl cholinesterase deficiency and one each for the other three disorders) were identified. These frequencies are comparable with those in Israel and indicate an extraordinary level of inbreeding, as anticipated. A carefully planned effort can be delivered to an "increased risk" community if detailed attention is given to planning and organization. However, availability of an effective intervention for those found to be "at-risk" or possibly affected, is essential before embarking.

  8. Experience of the Manitoba Perinatal Screening Program, 1965-85.

    Fox, J G

    1987-01-01

    The Manitoba Perinatal Screening Program is guided by a committee of medical specialists with skills in the diagnosis and management of disorders of metabolism in the newborn. The program is voluntary and is centralized at Cadham Provincial Laboratory, in Winnipeg. A filter card blood specimen is collected from newborns on discharge from hospital, and a filter card urine sample is collected and mailed to the laboratory by the mother when the infant is about 2 weeks of age. The overall compliance rates for the blood and urine specimens are approximately 100% and 84% respectively. The blood specimen is screened for phenylalanine and other amino acids, thyroxine, galactose, galactose-1-phosphate and biotinidase. The urine specimen is screened for amino acids, including cystine, as well as methylmalonic acid and homocystine. Between 1965 and 1985, 83 cases of metabolic disorders were detected, including 23 cases of primary hypothyroidism, 14 of classic phenylketonuria, 5 of galactosemia variants, 3 of galactosemia, 2 of maple syrup urine disease and 1 of hereditary tyrosinemia. The direct cost per infant screened is $5.50, and the cost:benefit ratio is approximately 7.5:1. Maternal serum alpha-fetoprotein screening is being made available as the necessary supporting clinical facilities become available. On the basis of this experience, the author outlines the components that are important for an effective screening program. PMID:3676929

  9. Testing the structure of a hydrological model using Genetic Programming

    Selle, Benny; Muttil, Nitin

    2011-01-01

    SummaryGenetic Programming is able to systematically explore many alternative model structures of different complexity from available input and response data. We hypothesised that Genetic Programming can be used to test the structure of hydrological models and to identify dominant processes in hydrological systems. To test this, Genetic Programming was used to analyse a data set from a lysimeter experiment in southeastern Australia. The lysimeter experiment was conducted to quantify the deep percolation response under surface irrigated pasture to different soil types, watertable depths and water ponding times during surface irrigation. Using Genetic Programming, a simple model of deep percolation was recurrently evolved in multiple Genetic Programming runs. This simple and interpretable model supported the dominant process contributing to deep percolation represented in a conceptual model that was published earlier. Thus, this study shows that Genetic Programming can be used to evaluate the structure of hydrological models and to gain insight about the dominant processes in hydrological systems.

  10. Knowledge, Attitude, and Satisfaction of University Students Regarding Premarital Screening Programs in Kuwait

    Khaled Al-Enezi

    2017-12-01

    Full Text Available The prevalence of genetic blood disorders is high, ranging from 10-25%, in Kuwait. This high prevalence is mainly due to a preventable cause, namely, consanguineous marriages. One of the most successful programs in Kuwait implemented to reduce such high prevalence is premarital screening program. The aim of the study was to determine the level of knowledge, attitude and satisfaction among university students regarding premarital screening program, and to find out the factors influencing knowledge, attitude, and satisfaction of the people toward premarital screening program. A cross-sectional study was conducted among 809 students of Kuwait University during July-October 2016. A self-administered questionnaire including 51 questions was handed out to the participants after taking informed consent. The main outcome variables of this study were: knowledge of hereditary diseases, premarital screening, attitude, and satisfaction toward premarital screening program. The mean ± SD of knowledge score about hereditary diseases was 5.80 ± 2.9 out of a total of 14, and the knowledge score for premarital screening was 3.99 ± 1.2 out of 6. In univariate analysis, knowledge scores about hereditary diseases were significantly associated with marital status (P = 0.043, education in medical faculties (P < 0.001, higher education of father (P = 0.027, higher education of mother (P = 0.001, and presence of hereditary disease in the family (P = 0.003. The level of attitude toward premarital screening program was significantly associated with female gender (P < 0.001, marital status (P = 0.023, higher years of study (P = 0.002, higher family income (P = 0.019. In multivariate analysis, education in medical faculties and presence of hereditary disease in the family were significant predictors of knowledge about hereditary disease. This study identified some demographic factors which determined the outcome of knowledge about premarital screening and hereditary

  11. Factors influencing participation in colorectal cancer screening programs in Spain.

    Vanaclocha-Espi, Mercedes; Ibáñez, Josefa; Molina-Barceló, Ana; Pérez, Elena; Nolasco, Andreu; Font, Rebeca; Pérez-Riquelme, Francisco; de la Vega, Mariola; Arana-Arri, Eunate; Oceja, MªElena; Espinàs, Josep Alfons; Portillo, Isabel; Salas, Dolores

    2017-12-01

    To analyze the sociodemographic and organizational factors influencing participation in population-based colorectal cancer screening programs (CRCSP) in Spain, a retrospective study was conducted in a cohort of people invited to participate in the first 3 screening rounds of 6 CRCSP from 2000 to 2012. Mixed logistic regression models were used to analyze the relationship between sociodemographic and organizational factors, such as the type of fecal occult blood test (FOBT) used and the FOBT delivery type. The analysis was performed separately in groups (Initial screening-first invitation, Subsequent invitation for previous never-responders, Subsequent invitation-regular, Subsequent invitation-irregular intervals). The results showed that, in the Initial screening-first invitation group, participation was higher in women than in men in all age groups (OR 1.05 in persons aged 50-59years and OR 1.12 in those aged 60-69years). Participation was also higher when no action was required to receive the FOBT kit, independently of the type of screening (Initial screening-first invitation [OR 2.24], Subsequent invitation for previous never-responders [OR 2.14], Subsequent invitation-regular [OR 2.03], Subsequent invitation-irregular intervals [OR 9.38]) and when quantitative rather than qualitative immunological FOBT (FIT) was offered (Initial screening-first invitation [OR 0.70], Subsequent invitation for previous never-responders [OR 0.12], Subsequent invitation-regular [OR 0.20]) or guaiac testing (Initial screening-first invitation [OR 0.81], Subsequent invitation for previous never-responders [OR 0.88], Subsequent invitation-regular [OR 0.73]). In conclusion, the results of this study show that screening participation could be enhanced by inclusion of the FOBT kit with the screening invitation and the use of the quantitative FIT. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

    Kwan, Antonia; Abraham, Roshini S.; Currier, Robert; Brower, Amy; Andruszewski, Karen; Abbott, Jordan K.; Baker, Mei; Ballow, Mark; Bartoshesky, Louis E.; Bonagura, Vincent R.; Bonilla, Francisco A.; Brokopp, Charles; Brooks, Edward; Caggana, Michele; Celestin, Jocelyn; Church, Joseph A.; Comeau, Anne Marie; Connelly, James A.; Cowan, Morton J.; Cunningham-Rundles, Charlotte; Dasu, Trivikram; Dave, Nina; De La Morena, Maria T.; Duffner, Ulrich; Fong, Chin-To; Forbes, Lisa; Freedenberg, Debra; Gelfand, Erwin W.; Hale, Jaime E.; Celine Hanson, I.; Hay, Beverly N.; Hu, Diana; Infante, Anthony; Johnson, Daisy; Kapoor, Neena; Kay, Denise M.; Kohn, Donald B.; Lee, Rachel; Lehman, Heather; Lin, Zhili; Lorey, Fred; Abdel-Mageed, Aly; Manning, Adrienne; McGhee, Sean; Moore, Theodore B.; Naides, Stanley J.; Notarangelo, Luigi D.; Orange, Jordan S.; Pai, Sung-Yun; Porteus, Matthew; Rodriguez, Ray; Romberg, Neil; Routes, John; Ruehle, Mary; Rubenstein, Arye; Saavedra-Matiz, Carlos A.; Scott, Ginger; Scott, Patricia M.; Secord, Elizabeth; Seroogy, Christine; Shearer, William T.; Siegel, Subhadra; Silvers, Stacy K.; Stiehm, E. Richard; Sugerman, Robert W.; Sullivan, John L.; Tanksley, Susan; Tierce, Millard L.; Verbsky, James; Vogel, Beth; Walker, Rosalyn; Walkovich, Kelly; Walter, Jolan E.; Wasserman, Richard L.; Watson, Michael S.; Weinberg, Geoffrey A.; Weiner, Leonard B.; Wood, Heather; Yates, Anne B.; Puck, Jennifer M.

    2015-01-01

    IMPORTANCE Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Columbia, and the Navajo Nation conduct population-wide newborn screening for SCID. The incidence of SCID is estimated at 1 in 100 000 births. OBJECTIVES To present data from a spectrum of SCID newborn screening programs, establish population-based incidence for SCID and other conditions with T-cell lymphopenia, and document early institution of effective treatments. DESIGN Epidemiological and retrospective observational study. SETTING Representatives in states conducting SCID newborn screening were invited to submit their SCID screening algorithms, test performance data, and deidentified clinical and laboratory information regarding infants screened and cases with nonnormal results. Infants born from the start of each participating program from January 2008 through the most recent evaluable date prior to July 2013 were included. Representatives from 10 states plus the Navajo Area Indian Health Service contributed data from 3 030 083 newborns screened with a TREC test. MAIN OUTCOMES AND MEASURES Infants with SCID and other diagnoses of T-cell lymphopenia were classified. Incidence and, where possible, etiologies were determined. Interventions and survival were tracked. RESULTS Screening detected 52 cases of typical SCID, leaky SCID, and Omenn syndrome, affecting 1 in 58 000 infants (95%CI, 1/46 000-1/80 000). Survival of SCID-affected infants through their diagnosis and immune reconstitution was 87%(45/52), 92%(45/49) for infants who received transplantation, enzyme replacement, and/or gene therapy. Additional interventions for SCID and non-SCID T-cell lymphopenia included immunoglobulin infusions, preventive antibiotics, and avoidance of live vaccines. Variations in

  13. ESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical issues.

    Dondorp, W; De Wert, G; Pennings, G; Shenfield, F; Devroey, P; Tarlatzis, B; Barri, P; Diedrich, K; Eichenlaub-Ritter, U; Tüttelmann, F; Provoost, V

    2014-07-01

    This Task Force document explores the ethical issues involved in the debate about the scope of genetic screening of gamete donors. Calls for expanded donor screening arise against the background of both occasional findings of serious but rare genetic conditions in donors or donor offspring that were not detected through present screening procedures and the advent of new genomic technologies promising affordable testing of donors for a wide range of conditions. Ethical principles require that all stakeholders' interests are taken into account, including those of candidate donors. The message of the profession should be that avoiding all risks is impossible and that testing should remain proportional.

  14. National screening program vs. standardized neurodevelopmental follow-up

    Maschke, Cornelia; Ellenrieder, Birte; Hecher, Kurt; Bartmann, Peter

    Background: Long-term follow-up is urgently needed to decide on the consequences of new therapies. Objective: This study assesses the use of a national child development screening program for a follow-up examination of a defined patient group. Patients and methods: Neurodevelopmental outcome of 139

  15. 77 FR 65395 - Air Cargo Advance Screening (ACAS) Pilot Program

    2012-10-26

    ... DEPARTMENT OF HOMELAND SECURITY U.S. Customs and Border Protection Air Cargo Advance Screening (ACAS) Pilot Program Correction In notice document 2012-26031 appearing on pages 65006-65009 in the issue of October 24, 2012 make the following correction: On page 65007, in the first column, under the...

  16. Dual gene activation and knockout screen reveals directional dependencies in genetic networks. | Office of Cancer Genomics

    Understanding the direction of information flow is essential for characterizing how genetic networks affect phenotypes. However, methods to find genetic interactions largely fail to reveal directional dependencies. We combine two orthogonal Cas9 proteins from Streptococcus pyogenes and Staphylococcus aureus to carry out a dual screen in which one gene is activated while a second gene is deleted in the same cell. We analyze the quantitative effects of activation and knockout to calculate genetic interaction and directionality scores for each gene pair.

  17. Rapid Recombination Mapping for High-Throughput Genetic Screens in Drosophila

    Sapiro, Anne L.; Ihry, Robert J.; Buhr, Derek L.; Konieczko, Kevin M.; Ives, Sarah M.; Engstrom, Anna K.; Wleklinski, Nicholas P.; Kopish, Kristin J.; Bashirullah, Arash

    2013-01-01

    Mutagenesis screens are a staple of classical genetics. Chemical-induced mutations, however, are often difficult and time-consuming to identify. Here, we report that recombination analysis with pairs of dominant visible markers provides a rapid and reliable strategy to map mutations in Drosophila melanogaster. This method requires only two generations and a total of six crosses in vials to estimate the genetic map position of the responsible lesion with high accuracy. This genetic map positio...

  18. Indicators for monitoring screening programs with primary HPV test.

    Zorzi, Manuel; Giorgi Rossi, Paolo

    2017-01-01

    following scientific evidence produced in numerous studies, as well as national and international guidelines, organized cervical cancer screening programs in Italy have gradually introduced the HPV test as primary screening test, replacing cytology. As public health interventions, screening programs must ensure equity, improvement in quality of life, and adequate information for the population involved with regards to benefits and possible risks; therefore, it is essential for quality to be constantly checked at every phase of the project.The Italian Cervical Screening Group (Gruppo Italiano per lo Screening Cervicale, GISCi) has written a handbook for the calculation and interpretation of cervical screening program monitoring indicators that take into account the new protocol based on primary HPV test with cytology triage. based on the European guidelines and Italian recommendations on primary HPVbased screening, the working group, which includes professionals from all the fields involved in cervical screening, identified the essential points needed to monitor the screening process, the accuracy of individual tests, and early outcomes, defining a specific indicator for each aspect. The indicators were grouped as follows: baseline indicators, indicators for test repeat after one year, cumulative indicators, and waiting times. For every indicator, the source of data, calculation formula, any standards or critical thresholds, and interpretation were defined. The standards are based on the results of NTCC trials or Italian pilot studies. the main indicators proposed for the organization are the following: number of invitations, compliance with first invitation, with one-year test repeat and with colposcopy; for test and process accuracy, a cohort approach was utilised, where indicators are based on women who must be followed for at least one year, so as to integrate the results obtained after the first HPV test with the outcome of the test's repetition after one year

  19. A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness.

    Burton, Sarah K; Withrow, Kara; Arnos, Kathleen S; Kalfoglou, Andrea L; Pandya, Arti

    2006-12-01

    Progress in identifying genes for deafness together with implementation of universal audiologic screening of newborns has provided the opportunity for more widespread use of molecular tests to detect genetic forms of hearing loss. Efforts to assess consumer attitudes toward these advances have lagged behind. Consumer focus groups were held to explore attitudes toward genetic advances and technologies for hearing loss, views about newborn hearing screening, and reactions to the idea of adding molecular screening for hearing loss at birth. Focus group discussions were recorded, transcribed and analyzed. Five focus groups with 44 participants including hearing parents of deaf children, deaf parents and young deaf adults were held. Focus group participants supported the use of genetic tests to identify the etiology of hearing loss but were concerned that genetic information might influence reproductive decisions. Molecular newborn screening was advocated by some; however, others expressed concern about its effectiveness. Documenting the attitudes of parents and other consumers toward genetic technologies establishes the framework for discussions on the appropriateness of molecular newborn screening for hearing loss and informs specialists about potential areas of public education necessary prior to the implementation of such screening.

  20. Guidelines on the use of molecular genetics in reintroduction programs

    Michael K. Schwartz

    2005-01-01

    The use of molecular genetics can play a key role in reintroduction efforts. Prior to the introduction of any individuals, molecular genetics can be used to identify the most appropriate source population for the reintroduction, ensure that no relic populations exist in the reintroduction area, and guide captive breeding programs. The use of molecular genetics post-...

  1. Applying theological developments to bioethical issues such as genetic screening.

    Mallia, P.; Have, H.A.M.J. ten

    2005-01-01

    Catholic movements within the centre of Roman Catholic doctrine recently have discussed Trinitarian theology as applied to sciences, arts, economics, health and other social areas. We explore the possibilities Trinitarian theology offers to bioethical debate, concentrating particularly on genetic

  2. A yeast screening system for simultaneously monitoring multiple genetic endpoints

    Dixon, M.L.; Mortimer, R.K.

    1986-01-01

    Mutation, recombination, and mitochondrial deficiencies have been proposed to have roles in the carcinogenic process. The authors describe a diploid strain of the yeast Saccharomyces cerevisiae capable of detecting this wide spectrum of genetic changes. The markers used for monitoring these events have been especially well characterized genetically. Ultraviolet light was chosen as a model carcinogenic agent to test this system. In addition to highly significant increases in the frequencies of each genetic change, increases in the absolute numbers of each change indicated induction and not selective survival. The relative amounts of each type of genetic change varied with dose. The wide spectrum of endpoints monitored in the XD83 yeast system may allow the detection of certain carcinogens and other genetically toxic agents which have escaped detection in more limited systems. Since only one strain is required to simultaneously monitor these genetic changes, this assay system should facilitate comparisons of the induced changes and be more efficient than using multiple strains to monitor the same endpoints. (Auth.)

  3. Cost-effectiveness analysis of neonatal hearing screening program in china: should universal screening be prioritized?

    Huang Li-Hui

    2012-04-01

    Full Text Available Abstract Background Neonatal hearing screening (NHS has been routinely offered as a vital component of early childhood care in developed countries, whereas such a screening program is still at the pilot or preliminary stage as regards its nationwide implementation in developing countries. To provide significant evidence for health policy making in China, this study aims to determine the cost-effectiveness of NHS program implementation in case of eight provinces of China. Methods A cost-effectiveness model was conducted and all neonates annually born from 2007 to 2009 in eight provinces of China were simulated in this model. The model parameters were estimated from the established databases in the general hospitals or maternal and child health hospitals of these eight provinces, supplemented from the published literature. The model estimated changes in program implementation costs, disability-adjusted life years (DALYs, average cost-effectiveness ratio (ACER, and incremental cost-effectiveness ratio (ICER for universal screening compared to targeted screening in eight provinces. Results and discussion A multivariate sensitivity analysis was performed to determine uncertainty in health effect estimates and cost-effectiveness ratios using a probabilistic modeling technique. Targeted strategy trended to be cost-effective in Guangxi, Jiangxi, Henan, Guangdong, Zhejiang, Hebei, Shandong, and Beijing from the level of 9%, 9%, 8%, 4%, 3%, 7%, 5%, and 2%, respectively; while universal strategy trended to be cost-effective in those provinces from the level of 70%, 70%, 48%, 10%, 8%, 28%, 15%, 4%, respectively. This study showed although there was a huge disparity in the implementation of the NHS program in the surveyed provinces, both universal strategy and targeted strategy showed cost-effectiveness in those relatively developed provinces, while neither of the screening strategy showed cost-effectiveness in those relatively developing provinces. This

  4. Fundus Autofluorescence Imaging in an Ocular Screening Program

    A. M. Kolomeyer

    2012-01-01

    Full Text Available Purpose. To describe integration of fundus autofluorescence (FAF imaging into an ocular screening program. Methods. Fifty consecutive screening participants were included in this prospective pilot imaging study. Color and FAF (530/640 nm exciter/barrier filters images were obtained with a 15.1MP Canon nonmydriatic hybrid camera. A clinician evaluated the images on site to determine need for referral. Visual acuity (VA, intraocular pressure (IOP, and ocular pathology detected by color fundus and FAF imaging modalities were recorded. Results. Mean ± SD age was 47.4 ± 17.3 years. Fifty-two percent were female and 58% African American. Twenty-seven percent had a comprehensive ocular examination within the past year. Mean VA was 20/39 in the right eye and 20/40 in the left eye. Mean IOP was 15 mmHg bilaterally. Positive color and/or FAF findings were identified in nine (18% individuals with diabetic retinopathy or macular edema (n=4, focal RPE defects (n=2, age-related macular degeneration (n=1, central serous retinopathy (n=1, and ocular trauma (n=1. Conclusions. FAF was successfully integrated in our ocular screening program and aided in the identification of ocular pathology. Larger studies examining the utility of this technology in screening programs may be warranted.

  5. Fundus autofluorescence imaging in an ocular screening program.

    Kolomeyer, A M; Nayak, N V; Szirth, B C; Khouri, A S

    2012-01-01

    Purpose. To describe integration of fundus autofluorescence (FAF) imaging into an ocular screening program. Methods. Fifty consecutive screening participants were included in this prospective pilot imaging study. Color and FAF (530/640 nm exciter/barrier filters) images were obtained with a 15.1MP Canon nonmydriatic hybrid camera. A clinician evaluated the images on site to determine need for referral. Visual acuity (VA), intraocular pressure (IOP), and ocular pathology detected by color fundus and FAF imaging modalities were recorded. Results. Mean ± SD age was 47.4 ± 17.3 years. Fifty-two percent were female and 58% African American. Twenty-seven percent had a comprehensive ocular examination within the past year. Mean VA was 20/39 in the right eye and 20/40 in the left eye. Mean IOP was 15 mmHg bilaterally. Positive color and/or FAF findings were identified in nine (18%) individuals with diabetic retinopathy or macular edema (n = 4), focal RPE defects (n = 2), age-related macular degeneration (n = 1), central serous retinopathy (n = 1), and ocular trauma (n = 1). Conclusions. FAF was successfully integrated in our ocular screening program and aided in the identification of ocular pathology. Larger studies examining the utility of this technology in screening programs may be warranted.

  6. Pathways and barriers to genetic testing and screening: Molecular genetics meets the high-risk family. Final report

    Duster, T.

    1998-11-01

    The proliferation of genetic screening and testing is requiring increasing numbers of Americans to integrate genetic knowledge and interventions into their family life and personal experience. This study examines the social processes that occur as families at risk for two of the most common autosomal recessive diseases, sickle cell disease (SC) and cystic fibrosis (CF), encounter genetic testing. Each of these diseases is found primarily in a different ethnic/racial group (CF in Americans of North European descent and SC in Americans of West African descent). This has permitted them to have a certain additional lens on the role of culture in integrating genetic testing into family life and reproductive planning. A third type of genetic disorder, the thalassemias was added to the sample in order to extent the comparative frame and to include other ethnic and racial groups.

  7. Testing the Structure of Hydrological Models using Genetic Programming

    Selle, B.; Muttil, N.

    2009-04-01

    Genetic Programming is able to systematically explore many alternative model structures of different complexity from available input and response data. We hypothesised that genetic programming can be used to test the structure hydrological models and to identify dominant processes in hydrological systems. To test this, genetic programming was used to analyse a data set from a lysimeter experiment in southeastern Australia. The lysimeter experiment was conducted to quantify the deep percolation response under surface irrigated pasture to different soil types, water table depths and water ponding times during surface irrigation. Using genetic programming, a simple model of deep percolation was consistently evolved in multiple model runs. This simple and interpretable model confirmed the dominant process contributing to deep percolation represented in a conceptual model that was published earlier. Thus, this study shows that genetic programming can be used to evaluate the structure of hydrological models and to gain insight about the dominant processes in hydrological systems.

  8. Developing robotic behavior using a genetic programming model

    Pryor, R.J.

    1998-01-01

    This report describes the methodology for using a genetic programming model to develop tracking behaviors for autonomous, microscale robotic vehicles. The use of such vehicles for surveillance and detection operations has become increasingly important in defense and humanitarian applications. Through an evolutionary process similar to that found in nature, the genetic programming model generates a computer program that when downloaded onto a robotic vehicle's on-board computer will guide the robot to successfully accomplish its task. Simulations of multiple robots engaged in problem-solving tasks have demonstrated cooperative behaviors. This report also discusses the behavior model produced by genetic programming and presents some results achieved during the study

  9. Awareness of cervical cancer and willingness to participate in screening program: Public health policy implications

    Somdatta Patra

    2017-01-01

    Conclusions: The country's national program advocates for opportunistic and targeted screening of women. An understanding of the factors that influences womens' willingness to participate in screening program is essential for the success of such programs. Hence, this study emphasizes the need for dissemination of knowledge about various aspects of cancer cervix which is critical for uptake of any screening program in a developing country.

  10. Genetics Education in Nurse Residency Programs: A Natural Fit.

    Hamilton, Nalo M; Stenman, Christina W; Sang, Elaine; Palmer, Christina

    2017-08-01

    Scientific advances are shedding light on the genetic underpinning of common diseases. With such insight, the entire health care team is faced with the need to address patient questions regarding genetic risk, testing, and the psychosocial aspects of genetics information. Nurses are in a prime position to help with patient education about genetic conditions, yet they often lack adequate genetics education within their nursing curriculum to address patient questions and provide resources. One mechanism to address this knowledge deficit is the incorporation of a genetics-based curriculum into nurse residency programs. This article describes a novel genetics-based curriculum designed and implemented in the UCLA Health System Nurse Residency Program. J Contin Educ Nurs. 2017;48(8):379-384. Copyright 2017, SLACK Incorporated.

  11. Forward genetic screen for auxin-deficient mutants by cytokinin

    Wu, L.; Luo, P.; Di, D.W.; Wang, L.; Wang, M.; Lu, C.K.; Wei, S.D.; Zhang, L.; Zhang, T.Z.; Amakorová, Petra; Strnad, Miroslav; Novák, Ondřej; Guo, G.Q.

    2015-01-01

    Roč. 5, JUL 6 (2015) ISSN 2045-2322 R&D Projects: GA MŠk(CZ) LO1204 Institutional support: RVO:61389030 Keywords : ETHYLENE-INSENSITIVE MUTANTS * YUCCA FLAVIN MONOOXYGENASES * ARABIDOPSIS-THALIANA Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 5.228, year: 2015

  12. Australian attitudes to DNA sample banks and genetic screening.

    Williams, Carolyn

    2005-11-01

    An exploration via an anonymous questionnaire of Australian public attitudes towards medical genetics and sample banking revealed the overwhelming majority views these developments with thoughtful confidence. Continued public education and awareness of these issues will allow the public to make informed decisions and enhance vigilance towards the sometimes misleading coverage in the press and media.

  13. A methodological overview on molecular preimplantation genetic diagnosis and screening: a genomic future?

    Vendrell, Xavier; Bautista-Llácer, Rosa

    2012-12-01

    The genetic diagnosis and screening of preimplantation embryos generated by assisted reproduction technology has been consolidated in the prenatal care framework. The rapid evolution of DNA technologies is tending to molecular approaches. Our intention is to present a detailed methodological view, showing different diagnostic strategies based on molecular techniques that are currently applied in preimplantation genetic diagnosis. The amount of DNA from one single, or a few cells, obtained by embryo biopsy is a limiting factor for the molecular analysis. In this sense, genetic laboratories have developed molecular protocols considering this restrictive condition. Nevertheless, the development of whole-genome amplification methods has allowed preimplantation genetic diagnosis for two or more indications simultaneously, like the selection of histocompatible embryos plus detection of monogenic diseases or aneuploidies. Moreover, molecular techniques have permitted preimplantation genetic screening to progress, by implementing microarray-based comparative genome hybridization. Finally, a future view of the embryo-genetics field based on molecular advances is proposed. The normalization, cost-effectiveness analysis, and new technological tools are the next topics for preimplantation genetic diagnosis and screening. Concomitantly, these additions to assisted reproduction technologies could have a positive effect on the schedules of preimplantation studies.

  14. Genetic Programming for Automatic Hydrological Modelling

    Chadalawada, Jayashree; Babovic, Vladan

    2017-04-01

    One of the recent challenges for the hydrologic research community is the need for the development of coupled systems that involves the integration of hydrologic, atmospheric and socio-economic relationships. This poses a requirement for novel modelling frameworks that can accurately represent complex systems, given, the limited understanding of underlying processes, increasing volume of data and high levels of uncertainity. Each of the existing hydrological models vary in terms of conceptualization and process representation and is the best suited to capture the environmental dynamics of a particular hydrological system. Data driven approaches can be used in the integration of alternative process hypotheses in order to achieve a unified theory at catchment scale. The key steps in the implementation of integrated modelling framework that is influenced by prior understanding and data, include, choice of the technique for the induction of knowledge from data, identification of alternative structural hypotheses, definition of rules, constraints for meaningful, intelligent combination of model component hypotheses and definition of evaluation metrics. This study aims at defining a Genetic Programming based modelling framework that test different conceptual model constructs based on wide range of objective functions and evolves accurate and parsimonious models that capture dominant hydrological processes at catchment scale. In this paper, GP initializes the evolutionary process using the modelling decisions inspired from the Superflex framework [Fenicia et al., 2011] and automatically combines them into model structures that are scrutinized against observed data using statistical, hydrological and flow duration curve based performance metrics. The collaboration between data driven and physical, conceptual modelling paradigms improves the ability to model and manage hydrologic systems. Fenicia, F., D. Kavetski, and H. H. Savenije (2011), Elements of a flexible approach

  15. Program spending to increase adherence: South African cervical cancer screening.

    Jeremy D Goldhaber-Fiebert

    2009-05-01

    Full Text Available Adherence is crucial for public health program effectiveness, though the benefits of increasing adherence must ultimately be weighed against the associated costs. We sought to determine the relationship between investment in community health worker (CHW home visits and increased attendance at cervical cancer screening appointments in Cape Town, South Africa.We conducted an observational study of 5,258 CHW home visits made in 2003-4 as part of a community-based screening program. We estimated the functional relationship between spending on these visits and increased appointment attendance (adherence. Increased adherence was noted after each subsequent CHW visit. The costs of making the CHW visits was based on resource use including both personnel time and vehicle-related expenses valued in 2004 Rand. The CHW program cost R194,018, with 1,576 additional appointments attended. Adherence increased from 74% to 90%; 55% to 87%; 48% to 77%; and 56% to 80% for 6-, 12-, 24-, and 36-month appointments. Average per-woman costs increased by R14-R47. The majority of this increase occurred with the first 2 CHW visits (90%, 83%, 74%, and 77%; additional cost: R12-R26.We found that study data can be used for program planning, identifying spending levels that achieve adherence targets given budgetary constraints. The results, derived from a single disease program, are retrospective, and should be prospectively replicated.

  16. Forward Genetic Screening Using Behavioral Tests in Zebrafish: A Proof of Concept Analysis of Mutants.

    Gerlai, Robert; Poshusta, Tanya L; Rampersad, Mindy; Fernandes, Yohaan; Greenwood, Tammy M; Cousin, Margot A; Klee, Eric W; Clark, Karl J

    2017-01-01

    The zebrafish enjoys several advantages over other model organisms. It is small, easy to maintain, prolific, and numerous genetic tools are available for it. For example, forward genetic screens have allowed investigators to identify important genes potentially involved in a variety of functions from embryogenesis to cancer. However, despite its sophisticated behavioral repertoire, behavioral methods have rarely been utilized in forward genetic screens. Here, we employ a two-tiered strategy, a proof of concept study, to explore the feasibility of behavioral screens. We generated mutant lines using transposon-based insertional mutagenesis, allowing us to bias mutant selection with target genes expressed within the brain. Furthermore, we employed an efficient and fast behavioral pre-selection in which we investigated the locomotory response of 5-day post-fertilization old larval fish to hyperosmotic shock. Based on this assay, we selected five lines for our lower throughput secondary adult behavioral screen. The latter screen utilized tests in which computer animated image presentation and video-tracking-based automated quantification of behavior allowed us to compare heterozygous zebrafish with their wild-type siblings on their responses to a variety of stimuli. We found significant mutation induced adult behavioral alterations in 4 out of the 5 lines analyzed, including changes in response to social or fear inducing stimuli, to handling and novelty, or in habituation to novelty. We discuss the pros and cons of behavioral phenotyping and of the use of different forward genetic methods in biomedical research with zebrafish.

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

    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...

  18. Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening.

    Shraga, Roman; Yarnall, Sarah; Elango, Sonya; Manoharan, Arun; Rodriguez, Sally Ann; Bristow, Sara L; Kumar, Neha; Niknazar, Mohammad; Hoffman, David; Ghadir, Shahin; Vassena, Rita; Chen, Serena H; Hershlag, Avner; Grifo, Jamie; Puig, Oscar

    2017-11-28

    Current professional society guidelines recommend genetic carrier screening be offered on the basis of ethnicity, or when using expanded carrier screening panels, they recommend to compute residual risk based on ethnicity. We investigated the reliability of self-reported ethnicity in 9138 subjects referred to carrier screening. Self-reported ethnicity gathered from test requisition forms and during post-test genetic counseling, and genetic ancestry predicted by a statistical model, were compared for concordance. We identified several discrepancies between the two sources of self-reported ethnicity and genetic ancestry. Only 30.3% of individuals who indicated Mediterranean ancestry during consultation self-reported this on requisition forms. Additionally, the proportion of individuals who reported Southeast Asian but were estimated to have a different genetic ancestry was found to depend on the source of self-report. Finally, individuals who reported Latin American demonstrated a high degree of ancestral admixture. As a result, carrier rates and residual risks provided for patient decision-making are impacted if using self-reported ethnicity. Our analysis highlights the unreliability of ethnicity classification based on patient self-reports. We recommend the routine use of pan-ethnic carrier screening panels in reproductive medicine. Furthermore, the use of an ancestry model would allow better estimation of carrier rates and residual risks.

  19. PRENATAL DIAGNOSIS AND SCREENING OF GENETIC ABNORMALITIES IN EARLY PREGNANCY

    Jyothi Kiran Kohli

    2016-11-01

    Full Text Available BACKGROUND Genetic diseases are one of the major causes of hospital admissions due to disability and mortality particularly among children (1:5 children of hospital admission either partially/completely as distribution of genetic diseases is not related to socioeconomic background, which implies that developing world has a large number of genetic diseases largely left uncared for, i.e. overall incidence of foetal/neonatal loss due to genetic/genetic environmental causes are as follows: 1:50 newborns have major congenital abnormality, 1:100 have a unifactorial disorder, 1:200 have a major chromosomal abnormality before birth. Diagnosis of chromosomal anomalies in foetus is one of the most important challenges in modern perinatology as invasive or noninvasive methods. The aim of the study is to review on cytogenetic evaluation of CVS obtained (transcervically during first trimester of pregnancy by direct karyotyping of tissue. MATERIALS AND METHODS This study was conducted in 2001 in Department of Anatomy along with Obstetrics and Gynaecology Department, LNJP Hospital. 37 healthy cases with 6-12 weeks of gestational age coming for medical termination of pregnancy were included in the study. After written informed consent for procedure, ultrasound-guided transcervical chorionic villus sampling was done (Brambati’s method. Tissue procured was then processed for direct karyotyping and studied. Metaphase spreads were photographed and karyotypes prepared and studied. RESULTS Out of 37 pregnant females, 30 samples were successfully prepared and processed by Direct method out of which 23 were normal female (46, XX and 7 were normal male (46, XY. No normal anomaly was detected. Best biopsies were obtained with 8-12 weeks gestation. G Banding could not be performed as chromosome obtained were found to be resistant to banding. CONCLUSIONS To summarise chromosome preparations obtained from CVS by Direct method has advantage of providing sufficient number

  20. Hazard screening application guide. Safety Analysis Report Update Program

    None

    1992-06-01

    The basic purpose of hazard screening is to group precesses, facilities, and proposed modifications according to the magnitude of their hazards so as to determine the need for and extent of follow on safety analysis. A hazard is defined as a material, energy source, or operation that has the potential to cause injury or illness in human beings. The purpose of this document is to give guidance and provide standard methods for performing hazard screening. Hazard screening is applied to new and existing facilities and processes as well as to proposed modifications to existing facilities and processes. The hazard screening process evaluates an identified hazards in terms of the effects on people, both on-site and off-site. The process uses bounding analyses with no credit given for mitigation of an accident with the exception of certain containers meeting DOT specifications. The process is restricted to human safety issues only. Environmental effects are addressed by the environmental program. Interfaces with environmental organizations will be established in order to share information.

  1. Incidental findings, genetic screening and the challenge of personalisation

    Carlo Petrini

    2014-12-01

    Full Text Available Genetic tests frequently produce more information than is initially expected. Several documents have addressed this issue and offer suggestions regarding how this information should be managed and, in particular, concerning the expedience of revealing (or not revealing it to the persons concerned. While the approaches to the management of these incidental findings (IFs vary, it is usually recommended that the information be disclosed if there is confirmed clinical utility and the possibility of treatment or prevention. However, this leaves unsolved some fundamental issues such as the different ways of interpreting "clinical utility", countless sources of uncertainty and varying ways of defining the notion of "incidental". Guidelines and other reference documents can offer indications to those responsible for managing IFs but should not be allowed to relieve researchers and healthcare professionals of their responsibilities.

  2. Genetic screening of EXT1 and EXT2 in Cypriot families with ...

    RESEARCH NOTE. Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary .... on samples from the HMO patient's parents in an attempt to establish .... Intragenic deletions involving single or multiple EXT1 or. EXT2 exons are ...

  3. Impact of preimplantation genetic screening on donor oocyte-recipient cycles in the United States.

    Barad, David H; Darmon, Sarah K; Kushnir, Vitaly A; Albertini, David F; Gleicher, Norbert

    2017-11-01

    Our objective was to estimate the contribution of preimplantation genetic screening to in vitro fertilization pregnancy outcomes in donor oocyte-recipient cycles. This was a retrospective cross-sectional study of US national data from the Society for Assisted Reproductive Technology Clinic Outcome Reporting System between 2005 and 2013. Society for Assisted Reproductive Technology Clinic Outcome Reporting relies on voluntarily annual reports by more than 90% of US in vitro fertilization centers. We evaluated pregnancy and live birth rates in donor oocyte-recipient cycles after the first embryo transfer with day 5/6 embryos. Statistical models, adjusted for patient and donor ages, number of embryos transferred, race, infertility diagnosis, and cycle year were created to compare live birth rates in 392 preimplantation genetic screening and 20,616 control cycles. Overall, pregnancy and live birth rates were significantly lower in preimplantation genetic screening cycles than in control cycles. Adjusted odds of live birth for preimplantation genetic screening cycles were reduced by 35% (odds ratio, 0.65, 95% confidence interval, 0.53-0.80; P cycles over the past 9 years, has not been associated with improved odds of live birth or reduction in miscarriage rates. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Impact of human genome initiative-derived technology on genetic testing, screening and counseling: Cultural, ethical and legal issues

    Trottier, R.W.; Hodgin, F.C.; Imara, M.; Phoenix, D.; Lybrook, S. (Morehouse Coll., Atlanta, GA (United States). School of Medicine); Crandall, L.A.; Moseley, R.E.; Armotrading, D. (Florida Univ., Gainesville, FL (United States). Coll. of Medicine)

    1993-01-01

    Genetic medical services provided by the Georgia Division of Public Health in two northern and two central districts are compared to services provided in a district in which a tertiary care facility is located. Genetics outreach public health nurses play key roles in Georgia's system of Children's Health Services Genetics Program, including significant roles as counselors and information sources on special needs social services and support organizations. Unique features of individual health districts, (e.g., the changing face of some rural communities in ethnocultural diversity and socioeconomic character), present new challenges to current and future genetics services delivery. Preparedness as to educational needs of both health professionals and the lay population is of foremost concern in light of the ever expanding knowledge and technology in medical genetics. Perspectives on genetics and an overview of services offered by a local private sector counselor are included for comparison to state supported services. The nature of the interactions which transpire between private and public genetic services resources in Georgia will be described. A special focus of this research includes issues associated with sickle cell disease newborn screening service delivery process in Georgia, with particular attention paid to patient follow-up and transition to primary care. Of particular interest to this focus is the problem of loss to follow-up in the current system. Critical factors in education and counseling of sickle cell patients and the expectations of expanding roles of primary care physicians are discussed. The Florida approach to the delivery of genetic services contrasts to the Georgia model by placing more emphasis on a consultant-specialist team approach.

  5. Preimplantation genetic diagnosis and screening by array comparative genomic hybridisation: experience of more than 100 cases in a single centre.

    Chow, J Fc; Yeung, W Sb; Lee, V Cy; Lau, E Yl; Ho, P C; Ng, E Hy

    2017-04-01

    Preimplantation genetic screening has been proposed to improve the in-vitro fertilisation outcome by screening for aneuploid embryos or blastocysts. This study aimed to report the outcome of 133 cycles of preimplantation genetic diagnosis and screening by array comparative genomic hybridisation. This study of case series was conducted in a tertiary assisted reproductive centre in Hong Kong. Patients who underwent preimplantation genetic diagnosis for chromosomal abnormalities or preimplantation genetic screening between 1 April 2012 and 30 June 2015 were included. They underwent in-vitro fertilisation and intracytoplasmic sperm injection. An embryo biopsy was performed on day-3 embryos and the blastomere was subject to array comparative genomic hybridisation. Embryos with normal copy numbers were replaced. The ongoing pregnancy rate, implantation rate, and miscarriage rate were studied. During the study period, 133 cycles of preimplantation genetic diagnosis for chromosomal abnormalities or preimplantation genetic screening were initiated in 94 patients. Overall, 112 cycles proceeded to embryo biopsy and 65 cycles had embryo transfer. The ongoing pregnancy rate per transfer cycle after preimplantation genetic screening was 50.0% and that after preimplantation genetic diagnosis was 34.9%. The implantation rates after preimplantation genetic screening and diagnosis were 45.7% and 41.1%, respectively and the miscarriage rates were 8.3% and 28.6%, respectively. There were 26 frozen-thawed embryo transfer cycles, in which vitrified and biopsied genetically transferrable embryos were replaced, resulting in an ongoing pregnancy rate of 36.4% in the screening group and 60.0% in the diagnosis group. The clinical outcomes of preimplantation genetic diagnosis and screening using comparative genomic hybridisation in our unit were comparable to those reported internationally. Genetically transferrable embryos replaced in a natural cycle may improve the ongoing pregnancy rate

  6. Digitisation of analogue screening mammograms. Norwegian Breast Cancer Screening Program Troms and Finnmark

    Pedersen, Kristin; Johansen, Stian; Roenning, Frank; Stormo, Sonja; Bjurstam, Nils

    2004-08-01

    In the coming years a transition from analogue to digital imaging technology will take place in the Norwegian Breast Cancer Screening Program (NBCSP). This will make softcopy reading of images possible. However, one will also wish to compare new (digital) images with prior images on on film. This can be solved in different ways. This report contains a brief description of different alternatives. The solution chosen in Troms and Finnmark, digitisation of prior images, is then described in detail. Both technical and economical aspects are covered. (Author)

  7. Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

    Kimberling, William J; Hildebrand, Michael S; Shearer, A Eliot; Jensen, Maren L; Halder, Jennifer A; Trzupek, Karmen; Cohn, Edward S; Weleber, Richard G; Stone, Edwin M; Smith, Richard J H

    2010-08-01

    Usher syndrome is a major cause of genetic deafness and blindness. The hearing loss is usually congenital and the retinitis pigmentosa is progressive and first noticed in early childhood to the middle teenage years. Its frequency may be underestimated. Newly developed molecular technologies can detect the underlying gene mutation of this disorder early in life providing estimation of its prevalence in at risk pediatric populations and laying a foundation for its incorporation as an adjunct to newborn hearing screening programs. A total of 133 children from two deaf and hard of hearing pediatric populations were genotyped first for GJB2/6 and, if negative, then for Usher syndrome. Children were scored as positive if the test revealed > or =1 pathogenic mutations in any Usher gene. Fifteen children carried pathogenic mutations in one of the Usher genes; the number of deaf and hard of hearing children carrying Usher syndrome mutations was 15/133 (11.3%). The population prevalence was estimated to be 1/6000. Usher syndrome is more prevalent than has been reported before the genome project era. Early diagnosis of Usher syndrome has important positive implications for childhood safety, educational planning, genetic counseling, and treatment. The results demonstrate that DNA testing for Usher syndrome is feasible and may be a useful addition to newborn hearing screening programs.

  8. Cervical cancer screening programs: technical cooperation in the Caribbean.

    Barnett, D B

    1996-12-01

    This article presents the findings and recommendations of the evaluation of a project that aimed to decrease mortality from cervical cancer in the Caribbean. The Cervical Cancer Control Project was initiated in 1990 in 10 countries in the Caribbean with a total population of 850,000. The project was directed at women aged 25-69 years and sought to increase cervical screening. The production of education materials was based on a KAP survey conducted in Barbados and Grenada. Findings indicate that Pap smears were more popular among young, better educated women. Men contributed to decision making on reproductive health issues, but women would follow the advice of health professionals. The following informative materials were produced: brochures on prevention, public service announcements, and posters. A follow-up survey indicated little impact of the IEC campaign to increase screenings. Training materials were produced that aimed to assure the quality in performance of Pap smear procedures among health workers. Laboratory-based cervical cytology registries were established that were compatible with PAHO/WHO systems. Quality control in laboratories was reinforced by meetings with pathologists and by exploration of the use of semi-automated cytology screening systems. Meetings were conducted in 1996 to assess whether project goals had been met. It was recommended that cost-benefit studies be conducted in order to prove to policy makers that there was a need to invest in screening programs. It was recommended that community and women's groups be encouraged to participate in awareness creation. Recruitment of the target population should be more flexible and involve possible use of mobile clinics in the workplace and communities. Simple, accurate information needs to be communicated through all available channels, including social marketing. Clinicians need to learn to manage their time and to prioritize their work load.

  9. Screening synteny blocks in pairwise genome comparisons through integer programming.

    Tang, Haibao; Lyons, Eric; Pedersen, Brent; Schnable, James C; Paterson, Andrew H; Freeling, Michael

    2011-04-18

    It is difficult to accurately interpret chromosomal correspondences such as true orthology and paralogy due to significant divergence of genomes from a common ancestor. Analyses are particularly problematic among lineages that have repeatedly experienced whole genome duplication (WGD) events. To compare multiple "subgenomes" derived from genome duplications, we need to relax the traditional requirements of "one-to-one" syntenic matchings of genomic regions in order to reflect "one-to-many" or more generally "many-to-many" matchings. However this relaxation may result in the identification of synteny blocks that are derived from ancient shared WGDs that are not of interest. For many downstream analyses, we need to eliminate weak, low scoring alignments from pairwise genome comparisons. Our goal is to objectively select subset of synteny blocks whose total scores are maximized while respecting the duplication history of the genomes in comparison. We call this "quota-based" screening of synteny blocks in order to appropriately fill a quota of syntenic relationships within one genome or between two genomes having WGD events. We have formulated the synteny block screening as an optimization problem known as "Binary Integer Programming" (BIP), which is solved using existing linear programming solvers. The computer program QUOTA-ALIGN performs this task by creating a clear objective function that maximizes the compatible set of synteny blocks under given constraints on overlaps and depths (corresponding to the duplication history in respective genomes). Such a procedure is useful for any pairwise synteny alignments, but is most useful in lineages affected by multiple WGDs, like plants or fish lineages. For example, there should be a 1:2 ploidy relationship between genome A and B if genome B had an independent WGD subsequent to the divergence of the two genomes. We show through simulations and real examples using plant genomes in the rosid superorder that the quota

  10. Use of preimplantation genetic diagnosis and preimplantation genetic screening in the United States: a Society for Assisted Reproductive Technology Writing Group paper.

    Ginsburg, Elizabeth S; Baker, Valerie L; Racowsky, Catherine; Wantman, Ethan; Goldfarb, James; Stern, Judy E

    2011-10-01

    To comprehensively report Society for Assisted Reproductive Technology (SART) member program usage of preimplantation genetic testing (PGT), preimplantation genetic diagnosis (PGD) for diagnosis of specific conditions, and preimplantation genetic screening for aneuploidy (PGS). Retrospective study. United States SART cohort data. Women undergoing a PGT cycle in which at least one embryo underwent biopsy. PGT. PGT use, indications, and delivery rates. Of 190,260 fresh, nondonor assisted reproductive technology (ART) cycles reported to SART CORS in 2007-2008, 8,337 included PGT. Of 6,971 cycles with a defined indication, 1,382 cycles were for genetic diagnosis, 3,645 for aneuploidy screening (PGS), 527 for translocation, and 1,417 for elective sex election. Although the total number of fresh, autologous cycles increased by 3.6% from 2007 to 2008, the percentage of cycles with PGT decreased by 5.8% (4,293 in 2007 and 4,044 in 2008). As a percentage of fresh, nondonor ART cycles, use dropped from 4.6% (4,293/93,433) in 2007 to 4.2% (4,044/96,827) in 2008. The primary indication for PGT was PGS: cycles performed for this indication decreased (-8.0%). PGD use for single-gene defects (+3.2%), elective sex selection (+5.3%), and translocation analysis (+0.5%) increased. PGT usage varied significantly by geographical region. PGT usage in the United States decreased between 2007 and 2008 owing to a decrease in PGS. Use of elective sex selection increased. High transfer cancellation rates correlated with reduced live-birth rates for some PGT indications. Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  11. Detecting familial hypercholesterolemia by serum lipid profile screening in a hospital setting: Clinical, genetic and atherosclerotic burden profile.

    Scicali, R; Di Pino, A; Platania, R; Purrazzo, G; Ferrara, V; Giannone, A; Urbano, F; Filippello, A; Rapisarda, V; Farruggia, E; Piro, S; Rabuazzo, A M; Purrello, F

    2018-01-01

    Familial hypercholesterolemia (FH) is underdiagnosed and public cholesterol screening may be useful to find new subjects. In this study, we aim to investigate the prevalence of FH patients in a hospital screening program and evaluate their atherosclerotic burden using intima-media thickness (IMT). We screened 1575 lipid profiles and included for genetic analysis adults with a low-density lipoprotein (LDL) cholesterol >190 mg/dL and triglycerides 160 mg/dL and triglycerides 8 it was 100%. Mean IMT was higher in FH patients compared to non FH (0.73 [0.61-0.83] vs 0.71 [0.60-0.75] mm, p 190 mg/dL and corneal arcus (p < 0.01 and p < 0.001, respectively). A hospital screening was useful to detect FH subjects with increased atherosclerosis. Also, next-generation sequencing was able to detect new FH mutations. Copyright © 2017 The Italian Society of Diabetology, the Italian Society for the Study of Atherosclerosis, the Italian Society of Human Nutrition, and the Department of Clinical Medicine and Surgery, Federico II University. Published by Elsevier B.V. All rights reserved.

  12. Frequency of chromosomal aneuploidy in high quality embryos from young couples using preimplantation genetic screening

    Farzaneh Fesahat

    2017-09-01

    Full Text Available Background: Selection of the best embryo for transfer is very important in assisted reproductive technology (ART. Using morphological assessment for this selection demonstrated that the correlation between embryo morphology and implantation potential is relatively weak. On the other hand, aneuploidy is a key genetic factor that can influence human reproductive success in ART. Objective: The aim of this lab trial study was to evaluate the incidence of aneuploidies in five chromosomes in the morphologically high-quality embryos from young patients undergoing ART for sex selection. Materials and Methods: A total of 97 high quality embryos from 23 women at the age of 37or younger years that had previously undergone preimplantation genetic screening for sex selection were included in this study. After washing, the slides of blastomeres from embryos of patients were reanalyzed by fluorescence in-situ hybridization for chromosomes 13, 18 and 21. Results: There was a significant rate of aneuploidy determination in the embryos using preimplantation genetic screening for both sex and three evaluated autosomal chromosomes compared to preimplantation genetic screening for only sex chromosomes (62.9% vs. 24.7%, p=0.000. The most frequent detected chromosomal aneuploidy was trisomy or monosomy of chromosome 13. Conclusion: There is considerable numbers of chromosomal abnormalities in embryos generated in vitro which cause in vitro fertilization failure and it seems that morphological characterization of embryos is not a suitable method for choosing the embryos without these abnormalities

  13. WE-D-207-03: CT Protocols for Screening and the ACR Designated Lung Screening Program

    McNitt-Gray, M.

    2015-01-01

    In the United States, Lung Cancer is responsible for more cancer deaths than the next four cancers combined. In addition, the 5 year survival rate for lung cancer patients has not improved over the past 40 to 50 years. To combat this deadly disease, in 2002 the National Cancer Institute launched a very large Randomized Control Trial called the National Lung Screening Trial (NLST). This trial would randomize subjects who had substantial risk of lung cancer (due to age and smoking history) into either a Chest X-ray arm or a low dose CT arm. In November 2010, the National Cancer Institute announced that the NLST had demonstrated 20% fewer lung cancer deaths among those who were screened with low-dose CT than with chest X-ray. In December 2013, the US Preventive Services Task Force recommended the use of Lung Cancer Screening using low dose CT and a little over a year later (Feb. 2015), CMS announced that Medicare would also cover Lung Cancer Screening using low dose CT. Thus private and public insurers are required to provide Lung Cancer Screening programs using CT to the appropriate population(s). The purpose of this Symposium is to inform medical physicists and prepare them to support the implementation of Lung Screening programs. This Symposium will focus on the clinical aspects of lung cancer screening, requirements of a screening registry for systematically capturing and tracking screening patients and results (such as required Medicare data elements) as well as the role of the medical physicist in screening programs, including the development of low dose CT screening protocols. Learning Objectives: To understand the clinical basis and clinical components of a lung cancer screening program, including eligibility criteria and other requirements. To understand the data collection requirements, workflow, and informatics infrastructure needed to support the tracking and reporting components of a screening program. To understand the role of the medical physicist in

  14. Toward a generalized and high-throughput enzyme screening system based on artificial genetic circuits.

    Choi, Su-Lim; Rha, Eugene; Lee, Sang Jun; Kim, Haseong; Kwon, Kilkoang; Jeong, Young-Su; Rhee, Young Ha; Song, Jae Jun; Kim, Hak-Sung; Lee, Seung-Goo

    2014-03-21

    Large-scale screening of enzyme libraries is essential for the development of cost-effective biological processes, which will be indispensable for the production of sustainable biobased chemicals. Here, we introduce a genetic circuit termed the Genetic Enzyme Screening System that is highly useful for high-throughput enzyme screening from diverse microbial metagenomes. The circuit consists of two AND logics. The first AND logic, the two inputs of which are the target enzyme and its substrate, is responsible for the accumulation of a phenol compound in cell. Then, the phenol compound and its inducible transcription factor, whose activation turns on the expression of a reporter gene, interact in the other logic gate. We confirmed that an individual cell harboring this genetic circuit can present approximately a 100-fold higher cellular fluorescence than the negative control and can be easily quantified by flow cytometry depending on the amounts of phenolic derivatives. The high sensitivity of the genetic circuit enables the rapid discovery of novel enzymes from metagenomic libraries, even for genes that show marginal activities in a host system. The crucial feature of this approach is that this single system can be used to screen a variety of enzymes that produce a phenol compound from respective synthetic phenyl-substrates, including cellulase, lipase, alkaline phosphatase, tyrosine phenol-lyase, and methyl parathion hydrolase. Consequently, the highly sensitive and quantitative nature of this genetic circuit along with flow cytometry techniques could provide a widely applicable toolkit for discovering and engineering novel enzymes at a single cell level.

  15. Screening Out Controversy: Human Genetics, Emerging Techniques of Diagnosis, and the Origins of the Social Issues Committee of the American Society of Human Genetics, 1964-1973.

    Mitchell, M X

    2017-05-01

    In the years following World War II, and increasingly during the 1960s and 1970s, professional scientific societies developed internal sub-committees to address the social implications of their scientific expertise (Moore, Disrupting Science: Social Movements, American Scientists, and the Politics of the Military, 1945-1975. Princeton: Princeton University Press, 2008). This article explores the early years of one such committee, the American Society of Human Genetics' "Social Issues Committee," founded in 1967. Although the committee's name might suggest it was founded to increase the ASHG's public and policy engagement, exploration of the committee's early years reveals a more complicated reality. Affronted by legislators' recent unwillingness to seek the expert advice of human geneticists before adopting widespread neonatal screening programs for phenylketonuria (PKU), and feeling pressed to establish their relevance in an increasingly resource-scarce funding environment, committee members sought to increase the discipline's expert authority. Painfully aware of controversy over abortion rights and haunted by the taint of the discipline's eugenic past, however, the committee proceeded with great caution. Seeking to harness interest in and assert professional control over emerging techniques of genetic diagnosis, the committee strove to protect the society's image by relegating ethical and policy questions about their use to the individual consciences of member scientists. It was not until 1973, after the committee's modest success in organizing support for a retrospective public health study of PKU screening and following the legalization of abortion on demand, that the committee decided to take a more publicly engaged stance.

  16. A practical approach to screen for authorised and unauthorised genetically modified plants.

    Waiblinger, Hans-Ulrich; Grohmann, Lutz; Mankertz, Joachim; Engelbert, Dirk; Pietsch, Klaus

    2010-03-01

    In routine analysis, screening methods based on real-time PCR are most commonly used for the detection of genetically modified (GM) plant material in food and feed. In this paper, it is shown that the combination of five DNA target sequences can be used as a universal screening approach for at least 81 GM plant events authorised or unauthorised for placing on the market and described in publicly available databases. Except for maize event LY038, soybean events DP-305423 and BPS-CV127-9 and cotton event 281-24-236 x 3006-210-23, at least one of the five genetic elements has been inserted in these GM plants and is targeted by this screening approach. For the detection of these sequences, fully validated real-time PCR methods have been selected. A screening table is presented that describes the presence or absence of the target sequences for most of the listed GM plants. These data have been verified either theoretically according to available databases or experimentally using available reference materials. The screening table will be updated regularly by a network of German enforcement laboratories.

  17. Establishment of an oocyte donor program. Donor screening and selection.

    Quigley, M M; Collins, R L; Schover, L R

    1991-01-01

    IVF with donated oocytes, followed by embryo placement in the uterus of a recipient who has been primed with exogenous steroids, is a successful treatment for special cases of infertility. Preliminary results indicate that the success rate in this situation is even greater than that usually seen with normal IVF (with placement of the embryos back into the uteri of the women from whom the oocytes were recovered). Although different sources for donated oocytes have been identified, the use of "excess" oocytes from IVF cycles and the attempted collection of oocytes at the time of otherwise indicated pelvic surgery have ethical and practical problems associated with their use. We have herein described the establishment of a successful program relying on anonymous volunteers who go through ovarian stimulation, monitoring, and oocyte recovery procedures solely to donate oocytes. The potential donors go through an exhaustive screening and education process before they are accepted in the program. Psychological evaluation of our potential donors indicated a great degree of turmoil in their backgrounds and a wide variety of motivations for actually participating. Despite the extensive educational and screening process, a substantial percentage of the donors did not complete a donation cycle, having either voluntarily withdrawn or been dropped because of lack of compliance. Further investigation of the psychological aspects of participating in such a program is certainly warranted. The use of donated oocytes to alleviate specific types of infertility is quite successful, but the application of this treatment is likely to be limited by the relative unavailability of suitable oocyte donors.

  18. [Genetic diagnostics of pathogenic splicing abnormalities in the clinical laboratory--pitfalls and screening approaches].

    Niimi, Hideki; Ogawa, Tomomi; Note, Rhougou; Hayashi, Shirou; Ueno, Tomohiro; Harada, Kenu; Uji, Yoshinori; Kitajima, Isao

    2010-12-01

    In recent years, genetic diagnostics of pathogenic splicing abnormalities are increasingly recognized as critically important in the clinical genetic diagnostics. It is reported that approximately 10% of pathogenic mutations causing human inherited diseases are splicing mutations. Nonetheless, it is still difficult to identify splicing abnormalities in routine genetic diagnostic settings. Here, we studied two different kinds of cases with splicing abnormalities. The first case is a protein S deficiency. Nucleotide analyses revealed that the proband had a previously reported G to C substitution in the invariant AG dinucleotide at the splicing acceptor site of intronl/exon2, which produces multiple splicing abnormalities resulting in protein S deficiency. The second case is an antithrombin (AT) deficiency. This proband had a previously reported G to A substitution, at nucleotide position 9788 in intron 4, 14 bp in front of exon 5, which created a de novo exon 5 splice site and resulted in AT deficiency. From a practical standpoint, we discussed the pitfalls, attentions, and screening approaches in genetic diagnostics of pathogenic splicing abnormalities. Due to the difficulty with full-length sequence analysis of introns, and the lack of RNA samples, splicing mutations may escape identification. Although current genetic testing remains to be improved, to screen for splicing abnormalities more efficiently, it is significant to use an appropriate combination of various approaches such as DNA and/or RNA samples, splicing mutation databases, bioinformatic tools to detect splice sites and cis-regulatory elements, and in vitro and/or in vivo experimentally methods as needed.

  19. Primer on molecular genetics. DOE Human Genome Program

    1992-04-01

    This report is taken from the April 1992 draft of the DOE Human Genome 1991--1992 Program Report, which is expected to be published in May 1992. The primer is intended to be an introduction to basic principles of molecular genetics pertaining to the genome project. The material contained herein is not final and may be incomplete. Techniques of genetic mapping and DNA sequencing are described.

  20. Polyglot programming in applications used for genetic data analysis.

    Nowak, Robert M

    2014-01-01

    Applications used for the analysis of genetic data process large volumes of data with complex algorithms. High performance, flexibility, and a user interface with a web browser are required by these solutions, which can be achieved by using multiple programming languages. In this study, I developed a freely available framework for building software to analyze genetic data, which uses C++, Python, JavaScript, and several libraries. This system was used to build a number of genetic data processing applications and it reduced the time and costs of development.

  1. Mendelian Genetics: Paradigm, Conjecture, or Research Program.

    Oldham, V.; Brouwer, W.

    1984-01-01

    Applies Kuhn's model of the structure of scientific revolutions, Popper's hypothetic-deductive model of science, and Lakatos' methodology of competing research programs to a historical biological episode. Suggests using Kuhn's model (emphasizing the nonrational basis of science) and Popper's model (emphasizing the rational basis of science) in…

  2. Impact of a CAD system in a screen-film mammography screening program: A prospective study

    Sanchez Gómez, S.; Torres Tabanera, M.; Vega Bolivar, A.; Sainz Miranda, M.; Baroja Mazo, A.; Ruiz Diaz, M.; Martinez Miravete, P.; Lag Asturiano, E.; Muñoz Cacho, P.; Delgado Macias, T.

    2011-01-01

    Objective: The purpose of our study was to perform a prospective assessment of the impact of a CAD system in a screen-film mammography screening program during a period of 3 years. Materials and methods: Our study was carried out on a population of 21,855 asymptomatic women (45–65 years). Mammograms were processed in a CAD system and independently interpreted by one of six radiologists. We analyzed the following parameters: sensitivity of radiologist's interpretation (without and with CAD), detection increase, recall rate and positive predictive value of biopsy, CAD's marks, radiologist's false negatives and comparative analysis of carcinomas detected and non-detected by CAD. Results: Detection rate was 4.3‰. CAD supposed an increase of 0.1‰ in detection rate and 1% in the total number of cases (p < 0.005). The impact on recall rate was not significant (0.4%) and PPV of percutaneous biopsy was unchanged by CAD (20.23%). CAD's marks were 2.7 per case and 0.7 per view. Radiologist's false negatives were 13 lesions which were initially considered as CAD's false positives. Conclusions: CAD supposed a significant increase in detection, without modifications in recall rates and PPV of biopsy. However, better results could have been achieved if radiologists had considered actionable those cases marked by CAD but initially misinterpreted.

  3. A tailored approach to BRAF and MLH1 methylation testing in a universal screening program for Lynch syndrome.

    Adar, Tomer; Rodgers, Linda H; Shannon, Kristen M; Yoshida, Makoto; Ma, Tianle; Mattia, Anthony; Lauwers, Gregory Y; Iafrate, Anthony J; Chung, Daniel C

    2017-03-01

    To determine the correlation between BRAF genotype and MLH1 promoter methylation in a screening program for Lynch syndrome (LS), a universal screening program for LS was established in two medical centers. Tumors with abnormal MLH1 staining were evaluated for both BRAF V600E genotype and MLH1 promoter methylation. Tumors positive for both were considered sporadic, and genetic testing was recommended for all others. A total 1011 colorectal cancer cases were screened for Lynch syndrome, and 148 (14.6%) exhibited absent MLH1 immunostaining. Both BRAF and MLH1 methylation testing were completed in 126 cases. Concordant results (both positive or both negative) were obtained in 86 (68.3%) and 16 (12.7%) cases, respectively, with 81% concordance overall. The positive and negative predictive values for a BRAF mutation in predicting MLH1 promoter methylation were 98.9% and 41%, respectively, and the negative predictive value fell to 15% in patients ≥70 years old. Using BRAF genotyping as a sole test to evaluate cases with absent MLH1 staining would have increased referral rates for genetic testing by 2.3-fold compared with MLH1 methylation testing alone (31% vs 13.5%, respectively, PMLH1 methylation testing for BRAF wild-type cases only would significantly decrease the number of methylation assays performed and reduce the referral rate for genetic testing to 12.7%. A BRAF mutation has an excellent positive predictive value but poor negative predictive value in predicting MLH1 promoter methylation. A hybrid use of these tests may reduce the number of low-risk patients referred to genetic counseling and facilitate wider implementation of Lynch syndrome screening programs.

  4. Genetic Programming for Medicinal Plant Family Identification System

    Indra Laksmana

    2014-11-01

    Full Text Available Information about medicinal plants that is available in text documents is generally quite easy to access, however, one needs some efforts to use it. This research was aimed at utilizing crucial information taken from a text document to identify the family of several species of medicinal plants using a heuristic approach, i.e. genetic programming. Each of the species has its unique features. The genetic program puts the characteristics or special features of each family into a tree form. There are a number of processes involved in the investigated method, i.e. data acquisition, booleanization, grouping of training and test data, evaluation, and analysis. The genetic program uses a training process to select the best individual, initializes a generate-rule process to create several individuals and then executes a fitness evaluation. The next procedure is a genetic operation process, which consists of tournament selection to choose the best individual based on a fitness value, the crossover operation and the mutation operation. These operations have the purpose of complementing the individual. The best individual acquired is the expected solution, which is a rule for classifying medicinal plants. This process produced three rules, one for each plant family, displaying a feature structure that distinguishes each of the families from each other. The genetic program then used these rules to identify the medicinal plants, achieving an average accuracy of 86.47%.

  5. Comprehensive preimplantation genetic screening and sperm deoxyribonucleic acid fragmentation from three males carrying balanced chromosome rearrangements.

    Ramos, Laia; Daina, Gemma; Del Rey, Javier; Ribas-Maynou, Jordi; Fernández-Encinas, Alba; Martinez-Passarell, Olga; Boada, Montserrat; Benet, Jordi; Navarro, Joaquima

    2015-09-01

    To assess whether preimplantation genetic screening can successfully identify cytogenetically normal embryos in couples carrying balanced chromosome rearrangements in addition to increased sperm DNA fragmentation. Comprehensive preimplantation genetic screening was performed on three couples carrying chromosome rearrangements. Sperm DNA fragmentation was assessed for each patient. Academic center. One couple with the male partner carrying a chromosome 2 pericentric inversion and two couples with the male partners carrying a Robertsonian translocation (13:14 and 14:21, respectively). A single blastomere from each of the 18 cleavage-stage embryos obtained was analysed by metaphase comparative genomic hybridization. Single- and double-strand sperm DNA fragmentation was determined by the alkaline and neutral Comet assays. Single- and double-strand sperm DNA fragmentation values and incidence of chromosome imbalances in the blastomeres were analyzed. The obtained values of single-strand sperm DNA fragmentation were between 47% and 59%, and the double-strand sperm DNA fragmentation values were between 43% and 54%. No euploid embryos were observed in the couple showing the highest single-strand sperm DNA fragmentation. However, euploid embryos were observed in the other two couples: embryo transfer was performed, and pregnancy was achieved by the couple showing the lowest sperm DNA fragmentation values. Preimplantation genetic screening enables the detection of euploid embryos in couples affected by balanced chromosome rearrangements and increased sperm DNA fragmentation. Even though sperm DNA fragmentation may potentially have clinical consequences on fertility, comprehensive preimplantation genetic screening allows for the identification and transfer of euploid embryos. Copyright © 2015. Published by Elsevier Inc.

  6. Algorithmic Trading with Developmental and Linear Genetic Programming

    Wilson, Garnett; Banzhaf, Wolfgang

    A developmental co-evolutionary genetic programming approach (PAM DGP) and a standard linear genetic programming (LGP) stock trading systemare applied to a number of stocks across market sectors. Both GP techniques were found to be robust to market fluctuations and reactive to opportunities associated with stock price rise and fall, with PAMDGP generating notably greater profit in some stock trend scenarios. Both algorithms were very accurate at buying to achieve profit and selling to protect assets, while exhibiting bothmoderate trading activity and the ability to maximize or minimize investment as appropriate. The content of the trading rules produced by both algorithms are also examined in relation to stock price trend scenarios.

  7. Justification for screening programs for early detection of HBV infections

    Małgorzata Leźnicka

    2014-12-01

    Full Text Available Background: The objective of the study was to collect the data on undetected hepatitis B virus (HBV in the frequently hospitalized (at least twice in the last 5 years population of the Kujawsko-Pomorskie voivodship. The study results could be used by occupational health services and local governments to take preventive actions. Material and Methods: The study focused on empirical data derived from hepatitis B Screening Programme in the Kujawsko-Pomorskie voivodship. The study comprised 6332 people tested for hepatitis B virus surface antigen – HBsAg. They had been hospitalized at least twice. The diagnostic survey was based on an anonymous questionnaire, developed for this study. For the statistical analysis the Statistica 10.0 program was used. A level of statistical significance was assumed at a value of α = 0.05. The results showing that the probability test p satisfy the inequality p < 0.05 were considered to be statistically significant. Results: HBs antigen was detected in 34 patients (0.54%. There was no association between the detected infections and the gender of the respondents. There was no relationship between the detected infections and transfusion of blood and blood products before 1992. Surgical procedures performed in the patients did not increase the risk of hepatitis B infection. Conclusions: Actions aimed at detecting asymptomatic infections should primarily focus on the 35–39 age group. Effective identification of chronically-infected people and application of optimal treatment play a key role in reducing the risk of disease progression in the whole population. Therefore, the implementation of screening programs is warranted for prevention and early detection of hepatitis B. Med Pr 2014;65(6:777–784

  8. Rapid recombination mapping for high-throughput genetic screens in Drosophila.

    Sapiro, Anne L; Ihry, Robert J; Buhr, Derek L; Konieczko, Kevin M; Ives, Sarah M; Engstrom, Anna K; Wleklinski, Nicholas P; Kopish, Kristin J; Bashirullah, Arash

    2013-12-09

    Mutagenesis screens are a staple of classical genetics. Chemical-induced mutations, however, are often difficult and time-consuming to identify. Here, we report that recombination analysis with pairs of dominant visible markers provides a rapid and reliable strategy to map mutations in Drosophila melanogaster. This method requires only two generations and a total of six crosses in vials to estimate the genetic map position of the responsible lesion with high accuracy. This genetic map position can then be reliably used to identify the mutated gene through complementation testing with an average of nine deficiencies and Sanger sequencing. We have used this approach to successfully map a collection of mutations from an ethyl methanesulfonate-based mutagenesis screen on the third chromosome. We propose that this method also may be used in conjunction with whole-genome sequencing, particularly when multiple independent alleles of the mutated locus are not available. By facilitating the rapid identification of mutated genes, our mapping strategy removes a primary obstacle to the widespread use of powerful chemical mutagenesis screens to understand fundamental biological phenomena.

  9. Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

    Heydy Bravo

    2017-09-01

    Full Text Available Lysosomal storage diseases (LSDs are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have specific therapies that may improve clinical outcomes, especially if introduced early in life. With this aim, screening methods have been established and newborn screening (NBS for some LSDs has been developed. Such programs should include additional procedures for the confirmation (or not of the cases that had an abnormal result in the initial screening. We present here the methods and results of the additional investigation performed in four babies with positive initial screening results in a program of NBS for LSDs performed by a private laboratory in over 10,000 newborns in Brazil. The suspicion in these cases was of Mucopolysaccharidosis I - MPS I (in two babies, Pompe disease and Gaucher disease (one baby each. One case of pseudodeficiency for MPS I, 1 carrier for MPS I, 1 case of pseudodeficiency for Pompe disease and 1 carrier for Gaucher disease were identified. This report illustrates the challenges that may be encountered by NBS programs for LSDs, and the need of a comprehensive protocol for the rapid and precise investigation of the babies who have an abnormal screening result.

  10. Children’s Hospital of Pittsburgh and Diabetes Institute of the Walter Reed Health Care System Genetic Screening in Diabetes: Candidate Gene Analysis for Diabetic Retinopathy

    2010-05-01

    Screening in Diabetes : Candidate Gene Analysis for Diabetic Retinopathy PRINCIPAL INVESTIGATOR: Robert A. Vigersky, COL MC CONTRACTING ORGANIZATION... Diabetes Institute of the Walter Reed Health Care System Genetic Screening in Diabetes : Candidate Gene Analysis for Diabetic Retinopathy 5c. PROGRAM... diabetic  neuropathy, and  diabetic   retinopathy .  This was an observational study in which the investigators obtained DNA samples from the blood of

  11. Current and future role of genetic screening in gynecologic malignancies.

    Ring, Kari L; Garcia, Christine; Thomas, Martha H; Modesitt, Susan C

    2017-11-01

    The world of hereditary cancers has seen exponential growth in recent years. While hereditary breast and ovarian cancer and Lynch syndrome account for the majority of mutations encountered by gynecologists, newly identified deleterious genetic mutations continue to be unearthed with their associated risks of malignancies. However, these advances in genetic cancer predispositions then force practitioners and their patients to confront the uncertainties of these less commonly identified mutations and the fact that there is limited evidence to guide them in expected cancer risk and appropriate risk-reduction strategies. Given the speed of information, it is imperative to involve cancer genetics experts when counseling these patients. In addition, coordination of screening and care in conjunction with specialty high-risk clinics, if available, allows for patients to have centralized management for multiple cancer risks under the guidance of physicians with experience counseling these patients. The objective of this review is to present the current literature regarding genetic mutations associated with gynecologic malignancies as well to propose screening and risk-reduction options for these high-risk patients. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. "Am I carrier?" The patient's lived experience of thrombophilia genetic screening and its outcome.

    Graffigna, Guendalina; Leone, Daniela; Vegni, Elena

    2014-01-01

    How do patients with thrombophilia experience a physician's request to undergo a genetic test? How do they experience the test outcome? To answer these questions, we conducted an interpretative phenomenological analysis study, based on 10 in-depth interviews with patients who underwent genetic testing for thrombophilia in Italy, half with positive and half with negative results. The experience of undergoing genetic screening for thrombophilia plays an important role in reconfiguring patients' signification of their illness experience. A positive outcome becomes a cue to reorganize in a more adaptive way the illness meaning at the cognitive and emotive levels, whereas a negative outcome appears more distressing and confusing. As a clinical implication of the study, clinicians should consider communicating carefully with the patients regardless from the positive/negative test results and they should explore the patient's specific reaction and understanding of test result.

  13. Non-linear nuclear engineering models as genetic programming application

    Domingos, Roberto P.; Schirru, Roberto; Martinez, Aquilino S.

    1997-01-01

    This work presents a Genetic Programming paradigm and a nuclear application. A field of Artificial Intelligence, based on the concepts of Species Evolution and Natural Selection, can be understood as a self-programming process where the computer is the main agent responsible for the discovery of a program able to solve a given problem. In the present case, the problem was to find a mathematical expression in symbolic form, able to express the existent relation between equivalent ratio of a fuel cell, the enrichment of fuel elements and the multiplication factor. Such expression would avoid repeatedly reactor physics codes execution for core optimization. The results were compared with those obtained by different techniques such as Neural Networks and Linear Multiple Regression. Genetic Programming has shown to present a performance as good as, and under some features superior to Neural Network and Linear Multiple Regression. (author). 10 refs., 8 figs., 1 tabs

  14. Genetic screening, health care and the insurance industry. Should genetic information be made available to insurers?

    Ossa, Diego F; Towse, Adrian

    2004-06-01

    The potential use of genetic tests in insurance has raised concerns about discrimination and individuals losing access to health care either because of refusals to test for treatable diseases, or because test-positives cannot afford premiums. Governments have so far largely sought to restrict the use of genetic information by insurance companies. To date the number of tests available with significant actuarial value is limited. However, this is likely to change, raising more clearly the question as to whether the social costs of adverse selection outweigh the social costs of individuals not accessing health care for fear of the consequences of test information being used in insurance markets. In this contribution we set out the policy context and model the potential trade-offs between the losses faced by insurers from adverse selection by insurees (which will increase premiums reducing consumer welfare) and the detrimental health effects that may result from persons refusing to undergo tests that could identify treatable health conditions. It argues that the optimal public policy on genetic testing should reflect overall societal benefit, taking account of these trade-offs. Based on our model, the factors that influence the outcome include: the size of and value attached to the health gains from treatment; deterrent effects of a disclosure requirement on testing for health reasons; incidence of the disease; propensity of test-positives to adverse select; policy value adverse selectors buy in a non-disclosure environment; and price elasticity of demand for insurance. Our illustrative model can be used as a benchmark for developing other scenarios or incorporating real data in order to address the impact of different policies on disclosure and requirement to test.

  15. Genetic programming applied to RFI mitigation in radio astronomy

    Staats, K.

    2016-12-01

    Genetic Programming is a type of machine learning that employs a stochastic search of a solutions space, genetic operators, a fitness function, and multiple generations of evolved programs to resolve a user-defined task, such as the classification of data. At the time of this research, the application of machine learning to radio astronomy was relatively new, with a limited number of publications on the subject. Genetic Programming had never been applied, and as such, was a novel approach to this challenging arena. Foundational to this body of research, the application Karoo GP was developed in the programming language Python following the fundamentals of tree-based Genetic Programming described in "A Field Guide to Genetic Programming" by Poli, et al. Karoo GP was tasked with the classification of data points as signal or radio frequency interference (RFI) generated by instruments and machinery which makes challenging astronomers' ability to discern the desired targets. The training data was derived from the output of an observation run of the KAT-7 radio telescope array built by the South African Square Kilometre Array (SKA-SA). Karoo GP, kNN, and SVM were comparatively employed, the outcome of which provided noteworthy correlations between input parameters, the complexity of the evolved hypotheses, and performance of raw data versus engineered features. This dissertation includes description of novel approaches to GP, such as upper and lower limits to the size of syntax trees, an auto-scaling multiclass classifier, and a Numpy array element manager. In addition to the research conducted at the SKA-SA, it is described how Karoo GP was applied to fine-tuning parameters of a weather prediction model at the South African Astronomical Observatory (SAAO), to glitch classification at the Laser Interferometer Gravitational-wave Observatory (LIGO), and to astro-particle physics at The Ohio State University.

  16. The Impact of a Population-Based Screening Program on Income- and Immigration-Related Disparities in Colorectal Cancer Screening.

    Kiran, Tara; Glazier, Richard H; Moineddin, Rahim; Gu, Sumei; Wilton, Andrew S; Paszat, Lawrence

    2017-09-01

    Background: A population-based program promoting the Fecal Occult Blood Test (FOBT) for colorectal cancer screening was introduced in 2008 in Ontario, Canada, where opportunistic screening with colonoscopy had been increasing in frequency. We evaluated the impact of the program on income and immigration-related disparities in screening. Methods: We used linked administrative data to calculate colorectal cancer screening rates for eligible Ontarians in each year between 2001/02 ( n = 2,852,619) and 2013/14 ( n = 4,139,304). We quantified disparities using an "inequality ratio" of screening rates in the most disadvantaged group relative to the most advantaged group. We performed segmented logistic regression analyses stratified by screening modality and adjusted for age, sex, rurality, comorbidity, and morbidity. Results: Between 2001/02 and 2013/14, the income and immigration inequality ratios narrowed from 0.74 to 0.80 and 0.55 to 0.69, respectively. Before the screening program, the income inequality ratio was widening by 1% per year (95% CI 1% to 1%); in the year it was introduced, it narrowed by 4% (95% CI 2% to 7%) and in the years following, it remained stable [0% decrease (95% CI 1% decrease to 0% decrease) per year]. Results were similar for immigration-related disparities. After program introduction, disparities in receiving FOBT were narrowing at a faster rate while disparities in receiving colonoscopy were widening at a slower rate. Conclusions: Introduction of a population-based screening program promoting FOBT for colorectal cancer was associated with only modest improvements in immigration and income-related disparities. Impact: Reducing immigration and income-related disparities should be a focus for future research and policy work. Disparities in Ontario seem to be driven by a higher uptake of colonoscopy among more advantaged groups. Cancer Epidemiol Biomarkers Prev; 26(9); 1401-10. ©2017 AACR . ©2017 American Association for Cancer Research.

  17. Feature extraction from multiple data sources using genetic programming.

    Szymanski, J. J. (John J.); Brumby, Steven P.; Pope, P. A. (Paul A.); Eads, D. R. (Damian R.); Galassi, M. C. (Mark C.); Harvey, N. R. (Neal R.); Perkins, S. J. (Simon J.); Porter, R. B. (Reid B.); Theiler, J. P. (James P.); Young, A. C. (Aaron Cody); Bloch, J. J. (Jeffrey J.); David, N. A. (Nancy A.); Esch-Mosher, D. M. (Diana M.)

    2002-01-01

    Feature extration from imagery is an important and long-standing problem in remote sensing. In this paper, we report on work using genetic programming to perform feature extraction simultaneously from multispectral and digital elevation model (DEM) data. The tool used is the GENetic Imagery Exploitation (GENIE) software, which produces image-processing software that inherently combines spatial and spectral processing. GENIE is particularly useful in exploratory studies of imagery, such as one often does in combining data from multiple sources. The user trains the software by painting the feature of interest with a simple graphical user interface. GENIE then uses genetic programming techniques to produce an image-processing pipeline. Here, we demonstrate evolution of image processing algorithms that extract a range of land-cover features including towns, grasslands, wild fire burn scars, and several types of forest. We use imagery from the DOE/NNSA Multispectral Thermal Imager (MTI) spacecraft, fused with USGS 1:24000 scale DEM data.

  18. Considering genetic characteristics in German Holstein breeding programs.

    Segelke, D; Täubert, H; Reinhardt, F; Thaller, G

    2016-01-01

    Recently, several research groups have demonstrated that several haplotypes may cause embryonic loss in the homozygous state. Up to now, carriers of genetic disorders were often excluded from mating, resulting in a decrease of genetic gain and a reduced number of sires available for the breeding program. Ongoing research is very likely to identify additional genetic defects causing embryonic loss and calf mortality by genotyping a large proportion of the female cattle population and sequencing key ancestors. Hence, a clear demand is present to develop a method combining selection against recessive defects (e.g., Holstein haplotypes HH1-HH5) with selection for economically beneficial traits (e.g., polled) for mating decisions. Our proposed method is a genetic index that accounts for the allele frequencies in the population and the economic value of the genetic characteristic without excluding carriers from breeding schemes. Fertility phenotypes from routine genetic evaluations were used to determine the economic value per embryo lost. Previous research has shown that embryo loss caused by HH1 and HH2 occurs later than the loss for HH3, HH4, and HH5. Therefore, an economic value of € 97 was used against HH1 and HH2 and € 70 against HH3, HH4, and HH5. For polled, € 7 per polled calf was considered. Minor allele frequencies of the defects ranged between 0.8 and 3.3%. The polled allele has a frequency of 4.1% in the German Holstein population. A genomic breeding program was simulated to study the effect of changing the selection criteria from assortative mating based on breeding values to selecting the females using the genetic index. Selection for a genetic index on the female path is a useful method to control the allele frequencies by reducing undesirable alleles and simultaneously increasing economical beneficial characteristics maintaining most of the genetic gain in production and functional traits. Additionally, we applied the genetic index to real data and

  19. Quantifying the advantages and disadvantages of pre-placement genetic screening.

    Palmer, K T; Poole, J; Rawbone, R G; Coggon, D

    2004-05-01

    Tests of genotype may enable workers at unusual risk of future ill-health to be identified. Using them to select for employment, however, entails gains and losses to employers and employees. Ensuring a fair balance between the rights and obligations of each group requires a value judgement, but the advantages and disadvantages to interested parties must first be quantified in a meaningful way. The purposes of pre-employment screening are reviewed, and several simple measures relevant to the separate interests of employers and job applicants proposed-number screened to prevent a single adverse outcome; number excluded to prevent a case; expected incidence of the adverse outcome in those excluded; and preventable fraction. The derivation of these measures is illustrated, and the factors that influence them (the prevalence of the prognostic trait, the relative risk that it carries for an adverse outcome, and the overall incidence of disease) are related algebraically and graphically, to aid judgement on the utility of screening under different circumstances. In sensitive areas such as genetic testing the onus should be on the employer to justify plans for pre-placement screening. Several quantitative measures can be used to inform the ethical and economic debate about screening and to evaluate alternative strategies for prevention.

  20. Guided genetic screen to identify genes essential in the regeneration of hair cells and other tissues.

    Pei, Wuhong; Xu, Lisha; Huang, Sunny C; Pettie, Kade; Idol, Jennifer; Rissone, Alberto; Jimenez, Erin; Sinclair, Jason W; Slevin, Claire; Varshney, Gaurav K; Jones, MaryPat; Carrington, Blake; Bishop, Kevin; Huang, Haigen; Sood, Raman; Lin, Shuo; Burgess, Shawn M

    2018-01-01

    Regenerative medicine holds great promise for both degenerative diseases and traumatic tissue injury which represent significant challenges to the health care system. Hearing loss, which affects hundreds of millions of people worldwide, is caused primarily by a permanent loss of the mechanosensory receptors of the inner ear known as hair cells. This failure to regenerate hair cells after loss is limited to mammals, while all other non-mammalian vertebrates tested were able to completely regenerate these mechanosensory receptors after injury. To understand the mechanism of hair cell regeneration and its association with regeneration of other tissues, we performed a guided mutagenesis screen using zebrafish lateral line hair cells as a screening platform to identify genes that are essential for hair cell regeneration, and further investigated how genes essential for hair cell regeneration were involved in the regeneration of other tissues. We created genetic mutations either by retroviral insertion or CRISPR/Cas9 approaches, and developed a high-throughput screening pipeline for analyzing hair cell development and regeneration. We screened 254 gene mutations and identified 7 genes specifically affecting hair cell regeneration. These hair cell regeneration genes fell into distinct and somewhat surprising functional categories. By examining the regeneration of caudal fin and liver, we found these hair cell regeneration genes often also affected other types of tissue regeneration. Therefore, our results demonstrate guided screening is an effective approach to discover regeneration candidates, and hair cell regeneration is associated with other tissue regeneration.

  1. Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland)

    Middleton, Anna; Patch, Chris; Wiggins, Jennifer; Barnes, Kathy; Crawford, Gill; Benjamin, Caroline; Bruce, Anita

    2014-01-01

    The American College of Medical Genetics and Genomics released recommendations for reporting incidental findings (IFs) in clinical exome and genome sequencing. These suggest ‘opportunistic genomic screening' should be available to both adults and children each time a sequence is done and would be undertaken without seeking preferences from the patient first. Should opportunistic genomic screening be implemented in the United Kingdom, the Association of Genetic Nurses and Counsellors (AGNC), w...

  2. Estimation of radiation exposure from lung cancer screening program with low-dose computed tomography

    Kim, Su Yeon; Jun, Jae Kwan [Graduate School of Cancer Science and Policy, National Cancer Center, Seoul (Korea, Republic of)

    2016-12-15

    The National Lung Screening Trial (NLST) demonstrated that screening with Low-dose Computed Tomography (LDCT) screening reduced lung cancer mortality in a high-risk population. Recently, the United States Preventive Services Task Force (USPSTF) gave a B recommendation for annual LDCT screening for individuals at high-risk. With the promising results, Korea developed lung cancer screening guideline and is planning a pilot study for implementation of national lung cancer screening. With widespread adoption of lung cancer screening with LDCT, there are concerns about harms of screening, including high false-positive rates and radiation exposure. Over the 3 rounds of screening in the NLST, 96.4% of positive results were false-positives. Although the initial screening is performed at low dose, subsequent diagnostic examinations following positive results additively contribute to patient's lifetime exposure. As with implementing a large-scale screening program, there is a lack of established risk assessment about the effect of radiation exposure from long-term screening program. Thus, the purpose of this study was to estimate cumulative radiation exposure of annual LDCT lung cancer screening program over 20-year period.

  3. Psychosocial effects in parents and children 12 years after newborn genetic screening for type 1 diabetes

    Kerruish, Nicola J; Healey, Dione M; Gray, Andrew R

    2017-01-01

    Little is known about the psychosocial consequences of testing newborns for genetic susceptibility to multifactorial diseases. This study reports quantitative psychosocial evaluations of parents and children 12 years after screening for type 1 diabetes (T1D). Two parent-child cohorts participated: children at increased genetic risk of T1D and children at low genetic risk. T1D risk status was determined at birth as part of a prospective study investigating potential environmental triggers of autoimmunity. Parent measures included ratings of children's emotional, behavioural and social functioning (Child Behaviour Checklist) and parenting style (Alabama Parenting Questionnaire). Child self-concept was assessed using the self-description questionnaire (SDQ1). Statistical analyses were conducted to test for differences between the groups. Twelve years after testing there was no evidence that knowledge of a child's increased genetic risk of T1D adversely affected parental ratings of their child's emotional, behavioural or social functioning, or impacted upon parenting style. There was no adverse effect upon the child's assessment of their self-concept. This study provides important preliminary data concerning longer-term psychosocial effects of incorporating tests for genetic risk of complex disorders into NBS panels. While it is reassuring that no significant adverse effects have been detected, more data will be required to adequately inform policy. PMID:28120838

  4. Business and Breakthrough: Framing (Expanded) Genetic Carrier Screening for the Public.

    Holton, Avery E; Canary, Heather E; Wong, Bob

    2017-09-01

    A growing body of research has given attention to issues surrounding genetic testing, including expanded carrier screening (ECS), an elective medical test that allows planning or expecting parents to consider the potential occurrence of genetic diseases and disorders in their children. These studies have noted the role of the mass media in driving public perceptions about such testing, giving particular attention to ways in which coverage of genetics and genetic testing broadly may drive public attitudes and choices concerning the morality, legality, ethics, and parental well-being involved in genetic technologies. However, few studies have explored how mass media are covering the newer test, ECS. Drawing on health-related framing studies that have shown in varying degrees the impact particular frames such as gain/loss and thematic/episodic can have on the public, this study examines the frame selection employed by online media in its coverage of ECS. This analysis-combined with an analysis of the sources and topics used in such coverage and how they relate to selected frames-helps to clarify how mass media are covering an increasingly important medical test and offers considerations of how such coverage may inform mass media scholarship as well as health-related practices.

  5. The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program

    Roberto Rozenberg

    Full Text Available CONTEXT: Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populations in several countries. The Brazilian Jewish population is estimated at 90,000 individuals. Currently, there is no screening program for Tay-Sachs disease in this population. OBJECTIVE: To evaluate the importance of a Tay-Sachs disease carrier screening program in the Brazilian Jewish population by determining the frequency of heterozygotes and the acceptance of the program by the community. SETTING: Laboratory of Molecular Genetics - Institute of Biosciences - Universidade de São Paulo. PARTICIPANTS: 581 senior students from selected Jewish high schools. PROCEDURE: Molecular analysis of Tay-Sachs disease causing mutations by PCR amplification of genomic DNA, followed by restriction enzyme digestion. RESULTS: Among 581 students that attended educational classes, 404 (70% elected to be tested for Tay-Sachs disease mutations. Of these, approximately 65% were of Ashkenazi Jewish origin. Eight carriers were detected corresponding to a carrier frequency of 1 in every 33 individuals in the Ashkenazi Jewish fraction of the sample. CONCLUSION: The frequency of Tay-Sachs disease carriers among the Ashkenazi Jewish population of Brazil is similar to that of other countries where carrier screening programs have led to a significant decrease in disease incidence. Therefore, it is justifiable to implement a Tay-Sachs disease carrier screening program for the Brazilian Jewish population.

  6. The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program.

    Rozenberg, R; Pereira, L da V

    2001-07-05

    Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populations in several countries. The Brazilian Jewish population is estimated at 90,000 individuals. Currently, there is no screening program for Tay-Sachs disease in this population. To evaluate the importance of a Tay-Sachs disease carrier screening program in the Brazilian Jewish population by determining the frequency of heterozygotes and the acceptance of the program by the community. Laboratory of Molecular Genetics--Institute of Biosciences--Universidade de São Paulo. 581 senior students from selected Jewish high schools. Molecular analysis of Tay-Sachs disease causing mutations by PCR amplification of genomic DNA, followed by restriction enzyme digestion. Among 581 students that attended educational classes, 404 (70%) elected to be tested for Tay-Sachs disease mutations. Of these, approximately 65% were of Ashkenazi Jewish origin. Eight carriers were detected corresponding to a carrier frequency of 1 in every 33 individuals in the Ashkenazi Jewish fraction of the sample. The frequency of Tay-Sachs disease carriers among the Ashkenazi Jewish population of Brazil is similar to that of other countries where carrier screening programs have led to a significant decrease in disease incidence. Therefore, it is justifiable to implement a Tay-Sachs disease carrier screening program for the Brazilian Jewish population.

  7. A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

    van der Tol, L.; Smid, B. E.; Poorthuis, B. J. H. M.; Biegstraaten, M.; Deprez, R. H. Lekanne; Linthorst, G. E.; Hollak, C. E. M.

    2014-01-01

    Screening for Fabry disease (FD) reveals a high prevalence of individuals with α-galactosidase A (GLA) genetic variants of unknown significance (GVUS). These individuals often do not express characteristic features of FD. A systematic review on FD screening studies was performed to interpret the

  8. Genetic screening and testing in an episode-based payment model: preserving patient autonomy.

    Sutherland, Sharon; Farrell, Ruth M; Lockwood, Charles

    2014-11-01

    The State of Ohio is implementing an episode-based payment model for perinatal care. All costs of care will be tabulated for each live birth and assigned to the delivering provider, creating a three-tiered model for reimbursement for care. Providers will be reimbursed as usual for care that is average in cost and quality, while instituting rewards or penalties for those outside the expected range in either domain. There are few exclusions, and all methods of genetic screening and diagnostic testing are included in the episode cost calculation as proposed. Prenatal ultrasonography, genetic screening, and diagnostic testing are critical components of the delivery of high-quality, evidence-based prenatal care. These tests provide pregnant women with key information about the pregnancy, which, in turn, allows them to work closely with their health care provider to determine optimal prenatal care. The concepts of informed consent and decision-making, cornerstones of the ethical practice of medicine, are founded on the principles of autonomy and respect for persons. These principles recognize that patients' rights to make choices and take actions are based on their personal beliefs and values. Given the personal nature of such decisions, it is critical that patients have unbarred access to prenatal genetic tests if they elect to use them as part of their prenatal care. The proposed restructuring of reimbursement creates a clear conflict between patient autonomy and physician financial incentives.

  9. Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype

    Johnathan Cooper-Knock

    2017-11-01

    Full Text Available Amyotrophic lateral sclerosis (ALS is underpinned by an oligogenic rare variant architecture. Identified genetic variants of ALS include RNA-binding proteins containing prion-like domains (PrLDs. We hypothesized that screening genes encoding additional similar proteins will yield novel genetic causes of ALS. The most common genetic variant of ALS patients is a G4C2-repeat expansion within C9ORF72. We have shown that G4C2-repeat RNA sequesters RNA-binding proteins. A logical consequence of this is that loss-of-function mutations in G4C2-binding partners might contribute to ALS pathogenesis independently of and/or synergistically with C9ORF72 expansions. Targeted sequencing of genomic DNA encoding either RNA-binding proteins or known ALS genes (n = 274 genes was performed in ALS patients to identify rare deleterious genetic variants and explore genotype-phenotype relationships. Genomic DNA was extracted from 103 ALS patients including 42 familial ALS patients and 61 young-onset (average age of onset 41 years sporadic ALS patients; patients were chosen to maximize the probability of identifying genetic causes of ALS. Thirteen patients carried a G4C2-repeat expansion of C9ORF72. We identified 42 patients with rare deleterious variants; 6 patients carried more than one variant. Twelve mutations were discovered in known ALS genes which served as a validation of our strategy. Rare deleterious variants in RNA-binding proteins were significantly enriched in ALS patients compared to control frequencies (p = 5.31E-18. Nineteen patients featured at least one variant in a RNA-binding protein containing a PrLD. The number of variants per patient correlated with rate of disease progression (t-test, p = 0.033. We identified eighteen patients with a single variant in a G4C2-repeat binding protein. Patients with a G4C2-binding protein variant in combination with a C9ORF72 expansion had a significantly faster disease course (t-test, p = 0.025. Our data are

  10. Changes in screening behaviors and attitudes toward screening from pre-test genetic counseling to post-disclosure in Lynch syndrome families

    Burton-Chase, Allison M.; Hovick, Shelly R.; Peterson, Susan K.; Marani, Salma K.; Vernon, Sally W.; Amos, Christopher I.; Frazier, Marsha L.; Lynch, Patrick M.; Gritz, Ellen R.

    2013-01-01

    Purpose This study examined colonoscopy adherence and attitudes towards colorectal cancer (CRC) screening in individuals who underwent Lynch syndrome genetic counseling and testing. Methods We evaluated changes in colonoscopy adherence and CRC screening attitudes in 78 cancer-unaffected relatives of Lynch syndrome mutation carriers before pre-test genetic counseling (baseline) and at 6 and 12 months post-disclosure of test results (52 mutation-negative, 26 mutation-positive). Results While both groups were similar at baseline, at 12 months post-disclosure, a greater number of mutation-positive individuals had had a colonoscopy compared with mutation-negative individuals. From baseline to 12 months post-disclosure, the mutation-positive group demonstrated an increase in mean scores on measures of colonoscopy commitment, self-efficacy, and perceived benefits of CRC screening, and a decrease in mean scores for perceived barriers to CRC screening. Mean scores on colonoscopy commitment decreased from baseline to 6 months in the mutation-negative group. Conclusion Adherence to risk-appropriate guidelines for CRC surveillance improved after genetic counseling and testing for Lynch syndrome. Mutation-positive individuals reported increasingly positive attitudes toward CRC screening after receiving genetic test results, potentially reinforcing longer term colonoscopy adherence. PMID:23414081

  11. Reaching Graduate Students at Risk for Suicidal Behavior through the Interactive Screening Program

    Moffitt, Lauren B.; Garcia-Williams, Amanda; Berg, John P.; Calderon, Michelle E.; Haas, Ann P.; Kaslow, Nadine J.

    2014-01-01

    Suicidal behavior is a significant concern among graduate students. Because many suicidal graduate students do not access mental health services, programs to connect them to resources are essential. This article describes the Interactive Screening Program (ISP), an anonymous, Web-based tool for screening and engaging at-risk graduate school…

  12. Screens

    2016-01-01

    This Sixth volume in the series The Key Debates. Mutations and Appropriations in European Film Studies investigates the question of screens in the context both of the dematerialization due to digitalization and the multiplication of media screens. Scholars offer various infomations and theories of topics such as the archeology of screen, film and media theories, contemporary art, pragmatics of new ways of screening (from home video to street screening).

  13. Flow Cytometry Enables Multiplexed Measurements of Genetically Encoded Intramolecular FRET Sensors Suitable for Screening.

    Doucette, Jaimee; Zhao, Ziyan; Geyer, Rory J; Barra, Melanie M; Balunas, Marcy J; Zweifach, Adam

    2016-07-01

    Genetically encoded sensors based on intramolecular FRET between CFP and YFP are used extensively in cell biology research. Flow cytometry has been shown to offer a means to measure CFP-YFP FRET; we suspected it would provide a unique way to conduct multiplexed measurements from cells expressing different FRET sensors, which is difficult to do with microscopy, and that this could be used for screening. We confirmed that flow cytometry accurately measures FRET signals using cells transiently transfected with an ERK activity reporter, comparing responses measured with imaging and cytometry. We created polyclonal long-term transfectant lines, each expressing a different intramolecular FRET sensor, and devised a way to bar-code four distinct populations of cells. We demonstrated the feasibility of multiplexed measurements and determined that robust multiplexed measurements can be conducted in plate format. To validate the suitability of the method for screening, we measured responses from a plate of bacterial extracts that in unrelated experiments we had determined contained the protein kinase C (PKC)-activating compound teleocidin A-1. The multiplexed assay correctly identifying the teleocidin A-1-containing well. We propose that multiplexed cytometric FRET measurements will be useful for analyzing cellular function and for screening compound collections. © 2016 Society for Laboratory Automation and Screening.

  14. A genetic screen for mutations affecting embryonic development in medaka fish (Oryzias latipes).

    Loosli, F; Köster, R W; Carl, M; Kühnlein, R; Henrich, T; Mücke, M; Krone, A; Wittbrodt, J

    2000-10-01

    In a pilot screen, we assayed the efficiency of ethylnitrosourea (ENU) as a chemical mutagen to induce mutations that lead to early embryonic and larval lethal phenotypes in the Japanese medaka fish, Oryzias latipes. ENU acts as a very efficient mutagen inducing mutations at high rates in germ cells. Three repeated treatments of male fish in 3 mM ENU for 1 h results in locus specific mutation rates of 1.1-1.95 x10(-3). Mutagenized males were outcrossed to wild type females and the F1 offspring was used to establish F2 families. F2 siblings were intercrossed and the F3 progeny was scored 24, 48 and 72 h after fertilization for morphological alterations affecting eye development. The presented mutant phenotypes were identified using morphological criteria and occur during early developmental stages of medaka. They are stably inherited in a Mendelian fashion. The high efficiency of ENU to induce mutations in this pilot screen indicates that chemical mutagenesis and screening for morphologically visible phenotypes in medaka fish allows the genetic analysis of specific aspects of vertebrate development complementing the screens performed in other vertebrate model systems.

  15. Neonatal Screening: Some Ethical Issues of Expanding Spectrum for Genetically Determined Diseases

    S. S. Deryabina

    2015-01-01

    Full Text Available The article considers philosophical questions of neonatal screening technology. The main focus is on ethical and methodological issues that inevitably arise when expanding the number of scanned nosologies and applying genetic research methods. Questions concerning the existing discrepancy between technical capacity and the practical level of healthcare delivery and the probabilistic nature of results obtained by molecular testing are analyzed in terms of methodology. Access to information about the DNA-testing of newborns and the linkage between neonatal screening and prenatal diagnostics are among the most topical ethical problems raised within this article. One of the purposes of this article is to draw the attention of the public — especially it concerns current and prospective parents and volunteer organizations — to these contemporary problems.

  16. Testing for direct genetic effects using a screening step in family-based association studies

    Sharon M Lutz

    2013-11-01

    Full Text Available In genome wide association studies (GWAS, families based studies tend to have less power to detect genetic associations than population based studies, such as case-control studies. This can be an issue when testing if genes in a family based GWAS have a direct effect on the phenotype of interest or if the genes act indirectly through a secondary phenotype. When multiple SNPs are tested for a direct effect in the family based study, a screening step can be used to minimize the burden of multiple comparisons in the causal analysis. We propose a 2-stage screening step that can be incorporated into the family based association test (FBAT approach similar to the conditional mean model approach in the VanSteen-algorithm [1]. Simulations demonstrate that the type 1 error is preserved and this method is advantageous when multiple markers are tested. This method is illustrated by an application to the Framingham Heart Study.

  17. Rapid screening for targeted genetic variants via high-resolution melting curve analysis.

    Chambliss, Allison B; Resnick, Molly; Petrides, Athena K; Clarke, William A; Marzinke, Mark A

    2017-03-01

    Current methods for the detection of single nucleotide polymorphisms (SNPs) associated with aberrant drug-metabolizing enzyme function are hindered by long turnaround times and specialized techniques and instrumentation. In this study, we describe the development and validation of a high-resolution melting (HRM) curve assay for the rapid screening of variant genotypes for targeted genetic polymorphisms in the cytochrome P450 enzymes CYP2C9, CYP2C19, and CYP3A5. Sequence-specific primers were custom-designed to flank nine SNPs within the genetic regions of aforementioned drug metabolizing enzymes. PCR amplification was performed followed by amplicon denaturation by precise temperature ramping in order to distinguish genotypes by melting temperature (Tm). A standardized software algorithm was used to assign amplicons as 'reference' or 'variant' as compared to duplicate reference sequence DNA controls for each SNP. Intra-assay (n=5) precision of Tms for all SNPs was ≤0.19%, while inter-assay (n=20) precision ranged from 0.04% to 0.21%. When compared to a reference method of Sanger sequencing, the HRM assay produced no false negative results, and overcall frequency ranged from 0% to 26%, depending on the SNP. Furthermore, HRM genotyping displayed accuracy over input DNA concentrations ranging from 10 to 200 ng/μL. The presented assay provides a rapid method for the screening for genetic variants in targeted CYP450 regions with a result of 'reference' or 'variant' available within 2 h from receipt of extracted DNA. The method can serve as a screening approach to rapidly identify individuals with variant sequences who should be further investigated by reflexed confirmatory testing for aberrant cytochrome P450 enzymatic activity. Rapid knowledge of variant status may aid in the avoidance of adverse clinical events by allowing for dosing of normal metabolizer patients immediately while identifying the need to wait for confirmatory testing in those patients who are

  18. A Short History and Description of Drosophila melanogaster Classical Genetics: Chromosome Aberrations, Forward Genetic Screens, and the Nature of Mutations.

    Kaufman, Thomas C

    2017-06-01

    The purpose of this chapter in FlyBook is to acquaint the reader with the Drosophila genome and the ways in which it can be altered by mutation. Much of what follows will be familiar to the experienced Fly Pusher but hopefully will be useful to those just entering the field and are thus unfamiliar with the genome, the history of how it has been and can be altered, and the consequences of those alterations. I will begin with the structure, content, and organization of the genome, followed by the kinds of structural alterations (karyotypic aberrations), how they affect the behavior of chromosomes in meiotic cell division, and how that behavior can be used. Finally, screens for mutations as they have been performed will be discussed. There are several excellent sources of detailed information on Drosophila husbandry and screening that are recommended for those interested in further expanding their familiarity with Drosophila as a research tool and model organism. These are a book by Ralph Greenspan and a review article by John Roote and Andreas Prokop, which should be required reading for any new student entering a fly lab for the first time. Copyright © 2017 by the Genetics Society of America.

  19. Molecular genetic approach for screening of hereditary non-polyposis colorectal cancer

    Metka Ravnik-Glavač

    2005-07-01

    Full Text Available Background: The main goal of knowledge concerning human diseases is to transfer as much as possible useful information into clinical applications. Hereditary non-polyposis colorectal cancer (HNPCC is the most common autosomal dominant inherited predisposition for colorectal cancer, accounting for 1–2% of all bowel cancer. The only way to diagnose HNPCC is by a family history consistent with the disease defined by International Collaborative Group on HNPCC (Amsterdam criteria I and II. The main molecular cause of HNPCC is a constitutional mutation in one of the mismatch repair (MMR genes. Since HNPCC mutations have been detected also in families that did not fulfil the Amsterdam criteria, molecular genetic characteristics of HNPCC cancers have been proposed as valuable first step in HNPCC identification. Microsatellite instability is present in about 90% of cancers of HNPCC patients. However, of all MSI colorectal cancers 80– 90% are sporadic. Several molecular mechanisms have been uncovered that enable distinguishing to some extent between sporadic and HNPCC cancers with MSI including hypermethylation of hMLH1 promoter and frequent mutations in BAX and TGFBR2 in sporadic CRC with MSI-H.Conclusions: The determination of MSI status and careful separation of MSI positive colorectal cancer into sporadic MSIL, sporadic MSI-H, and HNPCC MSI-H followed by mutation detection in MMR genes is important for prevention, screening and management of colorectal cancer. In some studies we and others have already shown that large-scale molecular genetic analysis for HNPCC can be done and is sensitive enough to approve population screening. Population screening includes also colonoscopy which is restricted only to the obligate carriers of the mutation. This enables that the disease is detected in earlier stages which would greatly decrease medical treatment costs and most importantly decrease mortality. In Slovenia we have started population screening based

  20. Toward forward genetic screens in malaria-causing parasites using the piggyBac transposon

    de Koning-Ward Tania F

    2011-03-01

    Full Text Available Abstract The ability to analyze gene function in malaria-causing Plasmodium parasites has received a boost with a recent paper in BMC Genomics that describes a genome-wide mutagenesis system in the rodent malaria species Plasmodium berghei using the transposon piggyBac. This advance holds promise for identifying and validating new targets for intervention against malaria. But further improvements are still needed for the full power of genome-wide molecular genetic screens to be utilized in this organism. See research article: http://www.biomedcentral.com/1471-2164/12/155

  1. Tracking the Genetic Stability of a Honey Bee (Hymenoptera: Apidae) Breeding Program With Genetic Markers.

    Bourgeois, Lelania; Beaman, Lorraine

    2017-08-01

    A genetic stock identification (GSI) assay was developed in 2008 to distinguish Russian honey bees from other honey bee stocks that are commercially produced in the United States. Probability of assignment (POA) values have been collected and maintained since the stock release in 2008 to the Russian Honey Bee Breeders Association. These data were used to assess stability of the breeding program and the diversity levels of the contemporary breeding stock through comparison of POA values and genetic diversity parameters from the initial release to current values. POA values fluctuated throughout 2010-2016, but have recovered to statistically similar levels in 2016 (POA(2010) = 0.82, POA(2016) = 0.74; P = 0.33). Genetic diversity parameters (i.e., allelic richness and gene diversity) in 2016 also remained at similar levels when compared to those in 2010. Estimates of genetic structure revealed stability (FST(2009/2016) = 0.0058) with a small increase in the estimate of the inbreeding coefficient (FIS(2010) = 0.078, FIS(2016) = 0.149). The relationship among breeding lines, based on genetic distance measurement, was similar in 2008 and 2016 populations, but with increased homogeneity among lines (i.e., decreased genetic distance). This was expected based on the closed breeding system used for Russian honey bees. The successful application of the GSI assay in a commercial breeding program demonstrates the utility and stability of such technology to contribute to and monitor the genetic integrity of a breeding stock of an insect species. Published by Oxford University Press on behalf of Entomological Society of America 2017. This work is written by US Government employees and is in the public domain in the US.

  2. New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies

    Tanya Milachich

    2014-01-01

    Full Text Available The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF embryos. Preimplantation genetic diagnosis (PGD or screening (PGS involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical procedure in many IVF clinics worldwide, including recent development of comprehensive chromosome screening of all 23 pairs of chromosomes by microarrays for aneuploidy screening. The routine preimplantation and prenatal genetic diagnosis (PND require testing in an aggressive manner. These procedures may be invasive to the growing embryo and fetus and potentially could compromise the clinical outcome. Therefore the aim of this review is to summarize not only the new knowledge on preimplantation and prenatal genetic diagnosis in humans, but also on the development of potential noninvasive embryo and fetal testing that might play an important role in the future.

  3. New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies

    2014-01-01

    The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF) embryos. Preimplantation genetic diagnosis (PGD) or screening (PGS) involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical procedure in many IVF clinics worldwide, including recent development of comprehensive chromosome screening of all 23 pairs of chromosomes by microarrays for aneuploidy screening. The routine preimplantation and prenatal genetic diagnosis (PND) require testing in an aggressive manner. These procedures may be invasive to the growing embryo and fetus and potentially could compromise the clinical outcome. Therefore the aim of this review is to summarize not only the new knowledge on preimplantation and prenatal genetic diagnosis in humans, but also on the development of potential noninvasive embryo and fetal testing that might play an important role in the future. PMID:24783200

  4. Self-Sampling for Human Papillomavirus Testing: Increased Cervical Cancer Screening Participation and Incorporation in International Screening Programs

    Gupta, Sarah; Palmer, Christina; Bik, Elisabeth M.; Cardenas, Juan P.; Nuñez, Harold; Kraal, Laurens; Bird, Sara W.; Bowers, Jennie; Smith, Alison; Walton, Nathaniel A.; Goddard, Audrey D.; Almonacid, Daniel E.; Zneimer, Susan; Richman, Jessica; Apte, Zachary S.

    2018-01-01

    In most industrialized countries, screening programs for cervical cancer have shifted from cytology (Pap smear or ThinPrep) alone on clinician-obtained samples to the addition of screening for human papillomavirus (HPV), its main causative agent. For HPV testing, self-sampling instead of clinician-sampling has proven to be equally accurate, in particular for assays that use nucleic acid amplification techniques. In addition, HPV testing of self-collected samples in combination with a follow-up Pap smear in case of a positive result is more effective in detecting precancerous lesions than a Pap smear alone. Self-sampling for HPV testing has already been adopted by some countries, while others have started trials to evaluate its incorporation into national cervical cancer screening programs. Self-sampling may result in more individuals willing to participate in cervical cancer screening, because it removes many of the barriers that prevent women, especially those in low socioeconomic and minority populations, from participating in regular screening programs. Several studies have shown that the majority of women who have been underscreened but who tested HPV-positive in a self-obtained sample will visit a clinic for follow-up diagnosis and management. In addition, a self-collected sample can also be used for vaginal microbiome analysis, which can provide additional information about HPV infection persistence as well as vaginal health in general. PMID:29686981

  5. Genetic variability of broodstocks of restocking programs in Brazil

    Nelson Lopera-Barrero

    2015-09-01

    Full Text Available Objective. The aim of this study was evaluate the genetic diversity of the following broodstocks: piapara (Leporinus elongatus, dourado (Salminus brasiliensis, jundiá (Rhamdia quelen and cachara (Pseudoplatystoma fasciatum already useful for restocking programs in the Paranapanema, Iguaçu and Paraná Brazilian Rivers. Materials and methods. Samples from the caudal fin of 122 fish were analyzed. DNA was extracted by NaCl protocol. PCR products were separated by a horizontal agarose gel electrophoresis. The fragments were visualized by staining with ethidium bromide. Results. The amplification of 25 primers generated different fragments in studied species that allowed characterizing 440 fragments of 100-2900 bp. High percentage of polymorphic fragments (66.67 to 86.29, Shannon index (0.365 to 0.486 and genetic diversity of Nei (0.248 to 0.331 were detected. Conclusions. The level of genetic variability in the broodstocks was adequate for allowing their use in restocking programs in the studied Rivers. However, periodical monitoring studies of genetic variability in these stocks, the mating system, reproductive system and general management must be made to guarantee the preservation of wild populations.

  6. Genetic Programming for Sea Level Predictions in an Island Environment

    M.A. Ghorbani

    2010-03-01

    Full Text Available Accurate predictions of sea-level are important for geodetic applications, navigation, coastal, industrial and tourist activities. In the current work, the Genetic Programming (GP and artificial neural networks (ANNs were applied to forecast half-daily and daily sea-level variations from 12 hours to 5 days ahead. The measurements at the Cocos (Keeling Islands in the Indian Ocean were used for training and testing of the employed artificial intelligence techniques. A comparison was performed of the predictions from the GP model and the ANN simulations. Based on the comparison outcomes, it was found that the Genetic Programming approach can be successfully employed in forecasting of sea level variations.

  7. Multigene Genetic Programming for Estimation of Elastic Modulus of Concrete

    Alireza Mohammadi Bayazidi

    2014-01-01

    Full Text Available This paper presents a new multigene genetic programming (MGGP approach for estimation of elastic modulus of concrete. The MGGP technique models the elastic modulus behavior by integrating the capabilities of standard genetic programming and classical regression. The main aim is to derive precise relationships between the tangent elastic moduli of normal and high strength concrete and the corresponding compressive strength values. Another important contribution of this study is to develop a generalized prediction model for the elastic moduli of both normal and high strength concrete. Numerous concrete compressive strength test results are obtained from the literature to develop the models. A comprehensive comparative study is conducted to verify the performance of the models. The proposed models perform superior to the existing traditional models, as well as those derived using other powerful soft computing tools.

  8. Evaluation Of Cervical Cancer Screening Program At A Rural ...

    But the condition is preventable through regular screening of women those are 'at risk\\' for abnormal changes in the cervix and treating them who have positive results. Although screening facilities are ... Keywords: Cervical cancer, Pap smear test, knowledge, practice, programme coverage. East African Journal of Public ...

  9. Testing the Untestable: A Vision Screening Program for Exceptional Children.

    Bishop, Virginia E.; Godolphin, Vivienne

    Based on a longitudinal study of vision screening techniques for handicapped children at the Chester County (Pennsylvania) Child Development Center, the paper reports on the development of a battery of effective vision screening methods for children with low functioning handicapped children. Specific tests are described, including the Sheridan…

  10. Geometric Semantic Genetic Programming Algorithm and Slump Prediction

    Xu, Juncai; Shen, Zhenzhong; Ren, Qingwen; Xie, Xin; Yang, Zhengyu

    2017-01-01

    Research on the performance of recycled concrete as building material in the current world is an important subject. Given the complex composition of recycled concrete, conventional methods for forecasting slump scarcely obtain satisfactory results. Based on theory of nonlinear prediction method, we propose a recycled concrete slump prediction model based on geometric semantic genetic programming (GSGP) and combined it with recycled concrete features. Tests show that the model can accurately p...

  11. Genetic diversity of tambaqui broodstocks in stock enhancement programs

    Americo Moraes Neto

    2017-06-01

    Full Text Available Natural populations of tambaqui (Colossoma macropomum have significantly decreased in recent decades especially due to human extraction activities. So that the environmental impact may be reduced, the restocking of fish and increase in fish production are enhanced. Genetic evaluations using molecular markers are essential for this purpose. Current study evaluates the genetic variability of two tambaqui broodstocks used in restocking programs. Sixty-five samples (33 samples from broodstock A and 32 samples from broodstock B were collected. DNA was extracted from caudal fin samples, with the amplification of four microsatellite loci: Cm1A11 (EU685307 Cm1C8 (EU685308 Cm1F4 (EU685311 and Cm1H8 (EU685315. Fourteen alleles in the stock of broodstock A were produced, five alleles for Cm1A11 locus (230, 255, 260, 270 and 276 bp, three alleles Cm1C8 (239, 260, and 273 bp, two alleles Cm1F4 (211 and 245 bp, four alleles for Cm1H8 (275, 290, 320 and 331 bp and two unique alleles were found for Cm1A11 loci (alleles 270 and 276 bp and Cm1H8 (alleles 275 and 331 bp. In broodstock B, ten alleles were produced, the same alleles of the first stock except for alleles 270 and 276 bp in Cm1A11 locus and 275 and 331 bp in Cm1H8 locus. Broodstock A revealed low frequency alleles in Cm1A11 loci, Cm1C8, Cm1F4 and Cm1H8, whereas broodstock B had no locus with low allelic frequency. Loci Cm1A11, Cm1C8 and Cm1H8 exhibited significant deficit of heterozygotes in both broodstocks, revealing changes in Hardy-Weinberg equilibrium. Genetic diversity between stocks was 0.1120, whilst genetic similarity was 0.894, with FST rate = 0.05, and Nm = 3.93, indicating gene flow between the two broodstocks. Results show that broodstocks are genetically closely related, with no great genetic variability. Strategies such as a previous genetic analysis of breeding with its marking, use of a large Ne crossing between the most genetically divergent specimens, and the introduction of new

  12. Screening Chinese soybean genotypes for Agrobacterium-mediated genetic transformation suitability*

    Song, Zhang-yue; Tian, Jing-luan; Fu, Wei-zhe; Li, Lin; Lu, Ling-hong; Zhou, Lian; Shan, Zhi-hui; Tang, Gui-xiang; Shou, Hui-xia

    2013-01-01

    The Agrobacterium-mediated transformation system is the most commonly used method in soybean transformation. Screening of soybean genotypes favorable for Agrobacterium-infection and tissue regeneration is the most important step to establish an efficient genetic transformation system. In this study, twenty soybean genotypes that originated from different soybean production regions in China were screened for transient infection, regeneration capacity, and stable transgenic efficiency. Three genotypes, Yuechun 04-5, Yuechun 03-3, and Tianlong 1, showed comparable stable transgenic efficiencies with that of the previously reported American genotypes Williams 82 and Jack in our experimental system. For the Tianlong 1, the average stable transformation efficiency is 4.59%, higher than that of control genotypes (Jack and Williams 82), which is enough for further genomic research and genetic engineering. While polymerase chain reaction (PCR), LibertyLink strips, and β-glucuronidase (GUS) staining assays were used to detect the insertion and expression of the transgene, leaves painted with 135 mg/L Basta could efficiently identify the transformants. PMID:23549846

  13. Generation of Mouse Haploid Somatic Cells by Small Molecules for Genome-wide Genetic Screening

    Zheng-Quan He

    2017-08-01

    Full Text Available The recent success of derivation of mammalian haploid embryonic stem cells (haESCs has provided a powerful tool for large-scale functional analysis of the mammalian genome. However, haESCs rapidly become diploidized after differentiation, posing challenges for genetic analysis. Here, we show that the spontaneous diploidization of haESCs happens in metaphase due to mitotic slippage. Diploidization can be suppressed by small-molecule-mediated inhibition of CDK1 and ROCK. Through ROCK inhibition, we can generate haploid somatic cells of all three germ layers from haESCs, including terminally differentiated neurons. Using piggyBac transposon-based insertional mutagenesis, we generated a haploid neural cell library harboring genome-wide mutations for genetic screening. As a proof of concept, we screened for Mn2+-mediated toxicity and identified the Park2 gene. Our findings expand the applications of mouse haploid cell technology to somatic cell types and may also shed light on the mechanisms of ploidy maintenance.

  14. A forward genetic screen reveals essential and non-essential RNAi factors in Paramecium tetraurelia

    Marker, Simone; Carradec, Quentin; Tanty, Véronique; Arnaiz, Olivier; Meyer, Eric

    2014-01-01

    In most eukaryotes, small RNA-mediated gene silencing pathways form complex interacting networks. In the ciliate Paramecium tetraurelia, at least two RNA interference (RNAi) mechanisms coexist, involving distinct but overlapping sets of protein factors and producing different types of short interfering RNAs (siRNAs). One is specifically triggered by high-copy transgenes, and the other by feeding cells with double-stranded RNA (dsRNA)-producing bacteria. In this study, we designed a forward genetic screen for mutants deficient in dsRNA-induced silencing, and a powerful method to identify the relevant mutations by whole-genome sequencing. We present a set of 47 mutant alleles for five genes, revealing two previously unknown RNAi factors: a novel Paramecium-specific protein (Pds1) and a Cid1-like nucleotidyl transferase. Analyses of allelic diversity distinguish non-essential and essential genes and suggest that the screen is saturated for non-essential, single-copy genes. We show that non-essential genes are specifically involved in dsRNA-induced RNAi while essential ones are also involved in transgene-induced RNAi. One of the latter, the RNA-dependent RNA polymerase RDR2, is further shown to be required for all known types of siRNAs, as well as for sexual reproduction. These results open the way for the dissection of the genetic complexity, interconnection, mechanisms and natural functions of RNAi pathways in P. tetraurelia. PMID:24860163

  15. Implementation of a fall screening program in a high risk of fracture population.

    Ritchey, Katherine; Olney, Amanda; Shofer, Jane; Phelan, Elizabeth A; Matsumoto, Alvin M

    2017-10-31

    Fall prevention is an important way to prevent fractures in person with osteoporosis. We developed and implemented a fall screening program in the context of routine osteoporosis care. This program was found to be feasible and showed that a significant proportion of persons with osteoporosis are at risk of falling. Falls are the most common cause of fracture in persons with osteoporosis. However, osteoporosis care rarely includes assessment and prevention of falling. We thus sought to assess the feasibility of a fall screening and management program integrated into routine osteoporosis care. The program was developed and offered to patients with osteoporosis or osteopenia seen at an outpatient clinic between May 2015 and May 2016. Feasibility was measured by physical therapist time required to conduct screening and ease of integrating the screening program into the usual clinic workflow. Self-report responses and mobility testing were conducted to describe the fall and fracture risk profile of osteoporosis patients screened. Effects on fall-related care processes were assessed via chart abstraction of patient participation in fall prevention exercise. Of the 154 clinic patients who presented for a clinic visit, 68% met screening criteria and completed in two thirds of persons. Screening was completed in a third of the time typically allotted for traditional PT evaluations and did not interfere with clinic workflow. Forty percent of those screened reported falling in the last year, and over half had two or more falls in the past year. Over half reported a balance or lower extremity impairment, and over 40% were below norms on one or more performance tests. Most patients who selected a group exercise fall prevention program completed all sessions while only a quarter completed either supervised or independent home-based programs. Implementation of a fall risk screening program in an outpatient osteoporosis clinic appears feasible. A substantial proportion of people

  16. Does digital mammography in a decentralized breast cancer screening program lead to screening performance parameters comparable with film-screen mammography?

    Ongeval, Chantal van; Steen, Andre van; Zanca, Federica; Bosmans, Hilde; Marchal, Guy; Putte, Gretel vande; Limbergen, Erik van

    2010-01-01

    To evaluate if the screening performance parameters of digital mammography (DM) in a decentralized screening organization were comparable with film-screen mammography (FSM). A nationwide screening program was launched in 2001, and since 2005 screening with DM has been allowed. Firstly, the parameters of the three regional screening units (RSUs) that first switched to DM (11,355 women) were compared with the FSM period of the same three RSUs (23,325 women). Secondly, they were compared with the results of the whole central breast unit (CBU). The recall rate (RR) of the DM group in the initial round was 2.64% [2.40% for FSM (p = 0.43)] and in the subsequent round 1.20% [1.58% for FSM (p = 0.03)]. The cancer detection rate (CDR) was 0.59% for DM and 0.64% for FSM (p = 0.56). The percentage of ductal carcinoma in situ was 0.07% for DM and 0.16% for FSM (p = 0.02). The positive predictive value was high in the subsequent rounds (DM 48.00%, FSM 45.93%) and lower in the initial round (DM 24.05%, FSM 24.86%). Compared with the results of the whole CBU, DM showed no significant difference. DM can be introduced in a decentralized screening organization with a high CDR without increasing the RR. (orig.)

  17. The sheep blowfly genetic control program in Australia

    Foster, Geoffrey G.

    1989-01-01

    The blowfly Lucilia cuprina is the most important myiasis pet of sheep in Australia. Other species are associated with sheep myiasis, but L. cuprina is probably responsible for initiating more than 90% of infestations. Annual costs of production losses, prevention and treatment have been estimated at $149 millions in 1985. Prevention and treatment encompass both insecticidal applications to sheep and non-chemical management practices. In the absence of effective preventive measures, the sheep industry would be non-viable over much of Australia. Insecticide usage against L. cuprina has been marked by the appearance of widespread resistance to cyclodienes in 1956, the organophosphates in 1965, and carbamates in 1966. Resistance has not yet been reported against the triazine compounds introduced for blowfly control in 1981. The most effective non-chemical control measures are surgical (removal of skin from the breech in certain breeds of sheep, and tail-docking). They protect sheep by reducing favourable oviposition sites (dung and urine-stained wool). The spectre of insecticide resistance and the early success of the sterile insect technique (SIT) against screwworm fly in the U.S.A., led this Division to consider SIT and other autocidal methods in the 1960s. The L. cuprina genetics research program was established in 1966 and subsequently expanded in 1971. More recently, lobbying by animal welfare groups against surgical blowfly control practices, as well as increasing consumer awareness of insecticide residues in animal products, have accelerated the search for alternatives to chemical control. When SIT was first considered for L. cuprina control in 1960, little was known about the population dynamics of L. cuprina. There were insufficient ecological data to evaluate the prospects of alternative strategies such as suppression or containment. The number of flies which would have to be released in a SIT program was unknown, as were the costs. Assuming that the cost of

  18. Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands

    Rasmussen, Jan; Nielsen, Olav W; Janzen, Nils

    2014-01-01

    BACKGROUND: Primary carnitine deficiency (PCD) is an autosomal recessive disorder of fatty acid oxidation and has been associated to episodes of sudden death in the Faroe Islands. Data are presented from the nationwide population based Faroese screening program to find people with low carnitine...... levels indicating PCD. METHODS: Whole blood samples from dried blood spots were analysed by tandem mass spectrometry with and without butylation. Genetic analyses were performed in all people with non-butylated free carnitine (fC0) below 7 μmol/L. RESULTS: 55 % (n = 26,462) of the entire population...

  19. Enhanced hexose fermentation by Saccharomyces cerevisiae through integration of stoichiometric modeling and genetic screening.

    Quarterman, Josh; Kim, Soo Rin; Kim, Pan-Jun; Jin, Yong-Su

    2015-01-20

    In order to determine beneficial gene deletions for ethanol production by the yeast Saccharomyces cerevisiae, we performed an in silico gene deletion experiment based on a genome-scale metabolic model. Genes coding for two oxidative phosphorylation reactions (cytochrome c oxidase and ubiquinol cytochrome c reductase) were identified by the model-based simulation as potential deletion targets for enhancing ethanol production and maintaining acceptable overall growth rate in oxygen-limited conditions. Since the two target enzymes are composed of multiple subunits, we conducted a genetic screening study to evaluate the in silico results and compare the effect of deleting various portions of the respiratory enzyme complexes. Over two-thirds of the knockout mutants identified by the in silico study did exhibit experimental behavior in qualitative agreement with model predictions, but the exceptions illustrate the limitation of using a purely stoichiometric model-based approach. Furthermore, there was a substantial quantitative variation in phenotype among the various respiration-deficient mutants that were screened in this study, and three genes encoding respiratory enzyme subunits were identified as the best knockout targets for improving hexose fermentation in microaerobic conditions. Specifically, deletion of either COX9 or QCR9 resulted in higher ethanol production rates than the parental strain by 37% and 27%, respectively, with slight growth disadvantages. Also, deletion of QCR6 led to improved ethanol production rate by 24% with no growth disadvantage. The beneficial effects of these gene deletions were consistently demonstrated in different strain backgrounds and with four common hexoses. The combination of stoichiometric modeling and genetic screening using a systematic knockout collection was useful for narrowing a large set of gene targets and identifying targets of interest. Copyright © 2014 Elsevier B.V. All rights reserved.

  20. Development of a forward genetic screen to isolate oil mutants in the green microalga Chlamydomonas reinhardtii.

    Cagnon, Caroline; Mirabella, Boris; Nguyen, Hoa Mai; Beyly-Adriano, Audrey; Bouvet, Séverine; Cuiné, Stéphan; Beisson, Fred; Peltier, Gilles; Li-Beisson, Yonghua

    2013-12-02

    Oils produced by microalgae are precursors to biodiesel. To achieve a profitable production of biodiesel from microalgae, identification of factors governing oil synthesis and turnover is desirable. The green microalga Chlamydomonas reinhardtii is amenable to genetic analyses and has recently emerged as a model to study oil metabolism. However, a detailed method to isolate various types of oil mutants that is adapted to Chlamydomonas has not been reported. We describe here a forward genetic approach to isolate mutants altered in oil synthesis and turnover from C. reinhardtii. It consists of a three-step screening procedure: a primary screen by flow cytometry of Nile red stained transformants grown in 96-deep-well plates under three sequential conditions (presence of nitrogen, then absence of nitrogen, followed by oil remobilization); a confirmation step using Nile red stained biological triplicates; and a validation step consisting of the quantification by thin layer chromatography of oil content of selected strains. Thirty-one mutants were isolated by screening 1,800 transformants generated by random insertional mutagenesis (1.7%). Five showed increased oil accumulation under the nitrogen-replete condition and 13 had altered oil content under nitrogen-depletion. All mutants were affected in oil remobilization. This study demonstrates that various types of oil mutants can be isolated in Chlamydomonas based on the method set-up here, including mutants accumulating oil under optimal biomass growth. The strategy conceived and the protocol set-up should be applicable to other microalgal species such as Nannochloropsis and Chlorella, thus serving as a useful tool in Chlamydomonas oil research and algal biotechnology.

  1. Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population

    Kejian Guo

    2018-04-01

    Full Text Available The incidence of inborn errors of metabolisms (IEMs varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS is an efficient approach for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and death. To determine the characteristics of IEMs and IEMs-associated mutations in newborns in Jining area, China, 48,297 healthy neonates were recruited for expanded newborn screening by MS/MS. The incidence of IEMs was 1/1178 in Jining, while methylmalonic acidemia, phenylketonuria, and primary carnitine deficiency ranked the top 3 of all detected IEMs. Thirty mutations in nine IEMs-associated genes were identified in 28 confirmed cases. As 19 cases with the mutations in phenylalanine hydroxylase (PAH, solute carrier family 22 member 5 (SLC22A5, and methylmalonic aciduria (cobalamin deficiency cblC type with homocystinuria (MMACHC genes, respectively, it suggested that mutations in the PAH, SLC22A5, and MMACHC genes are the predominant causes of IEMs, leading to the high incidence of phenylketonuria, primary carnitine deficiency, and methylmalonic acidemia, respectively. Our work indicated that the overall incidence of IEMs is high and the mutations in PAH, SLC22A5, and MMACHC genes are the leading causes of IEMs in Jining area. Therefore, it is critical to increase the coverage of expanded newborn screening by MS/MS and prenatal genetic consulting in Jining area.

  2. New multiplex PCR methods for rapid screening of genetically modified organisms in foods

    Nelly eDatukishvili

    2015-07-01

    Full Text Available We present novel multiplex PCR methods for rapid and reliable screening of genetically modified organisms (GMOs. New designed PCR primers targeting four frequently used GMO specific sequences permitted identification of new DNA markers, in particular 141 bp fragment of cauliflower mosaic virus (CaMV 35S promoter, 224 bp fragment of Agrobacterium tumefaciens nopaline synthase (NOS terminator, 256 bp fragment of 5-enolppyruvylshikimate-phosphate synthase (epsps gene and 258 bp fragment of Cry1Ab delta-endotoxin (cry1Ab gene for GMO screening. The certified reference materials containing Roundup Ready soybean (RRS and maize MON 810 were applied for the development and optimization of uniplex and multiplex PCR systems. Evaluation of amplification products by agarose gel electrophoresis using negative and positive controls confirmed high specificity and sensitivity at 0.1% GMO for both RRS and MON 810. The fourplex PCR was developed and optimized that allows simultaneous detection of three common transgenic elements, such as: CaMV 35S promoter, NOS terminator, epsps gene together with soybean-specific lectin gene. The triplex PCR developed enables simultaneous identification of transgenic elements, such as: 35S promoter and cry1Ab gene together with maize zein gene. The analysis of different processed foods demonstrated that multiplex PCR methods developed in this study are useful for accurate and fast screening of GM food products.

  3. Uncovering buffered pleiotropy: a genome-scale screen for mel-28 genetic interactors in Caenorhabditis elegans.

    Fernandez, Anita G; Mis, Emily K; Lai, Allison; Mauro, Michael; Quental, Angela; Bock, Carly; Piano, Fabio

    2014-01-10

    mel-28 (maternal-effect-lethal-28) encodes a conserved protein required for nuclear envelope function and chromosome segregation in Caenorhabditis elegans. Because mel-28 is a strict maternal-effect lethal gene, its function is required in the early embryo but appears to be dispensable for larval development. We wanted to test the idea that mel-28 has postembryonic roles that are buffered by the contributions of other genes. To find genes that act coordinately with mel-28, we did an RNA interference-based genetic interaction screen using mel-28 and wild-type larvae. We screened 18,364 clones and identified 65 genes that cause sterility in mel-28 but not wild-type worms. Some of these genes encode components of the nuclear pore. In addition we identified genes involved in dynein and dynactin function, vesicle transport, and cell-matrix attachments. By screening mel-28 larvae we have bypassed the requirement for mel-28 in the embryo, uncovering pleiotropic functions for mel-28 later in development that are normally provided by other genes. This work contributes toward revealing the gene networks that underlie cellular processes and reveals roles for a maternal-effect lethal gene later in development.

  4. New multiplex PCR methods for rapid screening of genetically modified organisms in foods.

    Datukishvili, Nelly; Kutateladze, Tamara; Gabriadze, Inga; Bitskinashvili, Kakha; Vishnepolsky, Boris

    2015-01-01

    We present novel multiplex PCR methods for rapid and reliable screening of genetically modified organisms (GMOs). New designed PCR primers targeting four frequently used GMO specific sequences permitted identification of new DNA markers, in particular 141 bp fragment of cauliflower mosaic virus (CaMV) 35S promoter, 224 bp fragment of Agrobacterium tumefaciens nopaline synthase (NOS) terminator, 256 bp fragment of 5-enolppyruvylshikimate-phosphate synthase (epsps) gene and 258 bp fragment of Cry1Ab delta-endotoxin (cry1Ab) gene for GMO screening. The certified reference materials containing Roundup Ready soybean (RRS) and maize MON 810 were applied for the development and optimization of uniplex and multiplex PCR systems. Evaluation of amplification products by agarose gel electrophoresis using negative and positive controls confirmed high specificity and sensitivity at 0.1% GMO for both RRS and MON 810. The fourplex PCR was developed and optimized that allows simultaneous detection of three common transgenic elements, such as: CaMV 35S promoter, NOS terminator, epsps gene together with soybean-specific lectin gene. The triplex PCR developed enables simultaneous identification of transgenic elements, such as: 35S promoter and cry1Ab gene together with maize zein gene. The analysis of different processed foods demonstrated that multiplex PCR methods developed in this study are useful for accurate and fast screening of GM food products.

  5. Implementation and process evaluation of a workplace colorectal cancer screening program in eastern Washington.

    Hannon, Peggy A; Vu, Thuy; Ogdon, Sara; Fleury, Emily M; Yette, Emily; Wittenberg, Reva; Celedonia, Megan; Bowen, Deborah J

    2013-03-01

    Colorectal cancer screening is a life-saving intervention, but screening rates are low. The authors implemented and evaluated the Spokane Colorectal Cancer Screening Program-a novel worksite intervention to promote colorectal cancer screening that used a combination of evidence-based strategies recommended by the Guide to Community Preventive Services, as well as additional strategies. Over a period of approximately 3 months, participating worksites held one or more physician-led seminars about colorectal cancer screening for employees. They also distributed free fecal immunochemical tests at the worksite to employees 50 years and older, and they provided test results to employees and their primary care physician. The authors measured attendance at seminars, test kits taken and returned, employee awareness of the program, and colorectal cancer screening rates in participating and comparison worksites. It is estimated that 9% of eligible employees received kits at the worksite, and 4% were screened with these kits. The Spokane Colorectal Cancer Screening Program was a promising pilot test of an innovative worksite screening program that successfully translated evidence-based strategies into practical use in a brief period of time, and it merits a larger study to be able to test its effects more rigorously.

  6. Genetic basis of prune belly syndrome: screening for HNF1β gene.

    Granberg, Candace F; Harrison, Steven M; Dajusta, Daniel; Zhang, Shaohua; Hajarnis, Sachin; Igarashi, Peter; Baker, Linda A

    2012-01-01

    Although the cause of prune belly syndrome is unknown, familial evidence suggests a genetic component. Recently 2 nonfamilial cases of prune belly syndrome with chromosome 17q12 deletions encompassing the HNF1β gene have made this a candidate gene for prune belly syndrome. To date, there has been no large-scale screening of patients with prune belly syndrome for HNF1β mutations. We assessed the role of HNF1β in prune belly syndrome by screening for genomic mutations with functional characterization of any detected mutations. We studied patients with prune belly syndrome who were prospectively enrolled in our Pediatric Genitourinary DNA Repository since 2001. DNA from patient samples was amplified by polymerase chain reaction, sequenced for coding and splice regions of the HNF1β gene, and compared to control databases. We performed functional assay testing of the ability of mutant HNF1β to activate a luciferase construct with an HNF1β DNA binding site. From 32 prune belly syndrome probands (30 males, 2 females) HNF1β sequencing detected a missense mutation (V61G) in 1 child with prune belly syndrome. Absent in control databases, V61G was previously reported in 2 patients without prune belly syndrome who had congenital genitourinary anomalies. Functional testing showed similar luciferase activity compared to wild-type HNF1β, suggesting the V61G substitution does not disturb HNF1β function. One genomic HNF1β mutation was detected in 3% of patients with prune belly syndrome but found to be functionally normal. Thus, functionally significant HNF1β mutations are uncommon in prune belly syndrome, despite case reports of HNF1β deletions. Further genetic study is necessary, as identification of the genetic basis of prune belly syndrome may ultimately lead to prevention and improved treatments for this rare but severe syndrome. Copyright © 2012 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  7. Cost-effectiveness of the Norwegian breast cancer screening program.

    van Luijt, P A; Heijnsdijk, E A M; de Koning, H J

    2017-02-15

    The Norwegian Breast Cancer Screening Programme (NBCSP) has a nation-wide coverage since 2005. All women aged 50-69 years are invited biennially for mammography screening. We evaluated breast cancer mortality reduction and performed a cost-effectiveness analysis, using our microsimulation model, calibrated to most recent data. The microsimulation model allows for the comparison of mortality and costs between a (hypothetical) situation without screening and a situation with screening. Breast cancer incidence in Norway had a steep increase in the early 1990s. We calibrated the model to simulate this increase and included recent costs for screening, diagnosis and treatment of breast cancer and travel and productivity loss. We estimate a 16% breast cancer mortality reduction for a cohort of women, invited to screening, followed over their complete lifetime. Cost-effectiveness is estimated at NOK 112,162 per QALY gained, when taking only direct medical costs into account (the cost of the buses, examinations, and invitations). We used a 3.5% annual discount rate. Cost-effectiveness estimates are substantially below the threshold of NOK 1,926,366 as recommended by the WHO guidelines. For the Norwegian population, which has been gradually exposed to screening, breast cancer mortality reduction for women exposed to screening is increasing and is estimated to rise to ∼30% in 2020 for women aged 55-80 years. The NBCSP is a highly cost-effective measure to reduce breast cancer specific mortality. We estimate a breast cancer specific mortality reduction of 16-30%, at the cost of 112,162 NOK per QALY gained. © 2016 UICC.

  8. Results of a Targeted Screening Program for Congenital Cytomegalovirus Infection in Infants Who Fail Newborn Hearing Screening.

    Vancor, Emily; Shapiro, Eugene D; Loyal, Jaspreet

    2018-01-24

    Congenital cytomegalovirus (CMV) infection is a major cause of sensorineural hearing loss. By law, newborns in Connecticut who fail newborn hearing screening are tested for infection with CMV. This targeted screening is controversial, because most children with congenital CMV infection are asymptomatic, and CMV-related hearing loss can have a delayed onset. Our hospital uses a saliva polymerase chain reaction (PCR) assay (confirmed by a urine PCR assay) to detect CMV. Here, we report the results of the first year of our screening program. We reviewed the medical records of newborns in the Yale New Haven Health System who failed the newborn hearing screening test between January 1 and December 31, 2016. Of 10964 newborns, 171 failed newborn hearing screening, and 3 of these newborns had positive saliva CMV PCR test results. Of these 3 newborns, 2 had positive results on the confirmatory test (for 1 of them the confirmatory test was not performed until the infant was 10 weeks old), and 1 had a negative result on the confirmatory test. Three additional newborns with congenital CMV infection were tested because of clinical indications (1 for ventriculomegaly on prenatal ultrasound and 2 for CMV infection of the mother). Results of audiology follow-up were available for 149 (87.1%) of the 171 newborns who failed newborn hearing screening; 127 (85.2%) had normal results. Our targeted screening program for congenital CMV infection had a low yield. Consideration should be given to other strategies for identifying children at risk of hearing loss as a result of congenital CMV infection. © The Author(s) 2018. Published by Oxford University Press on behalf of The Journal of the Pediatric Infectious Diseases Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  9. Breast cancer correlates in a cohort of breast screening program participants in Riyadh, KSA

    Al-Amri, F.; Saeedi, M.Y.; Al-Tahan, F.M.; Alomary, S.A.; Kassim, K.A.; Ali, A.M.; Mostafa Arafa, M.; Ibrahim, A.K.; Ali, A.M.

    2015-01-01

    Background: Breast cancer is the first cancer among females in the Kingdom of Saudi Arabia, accounting for 27.4% of all newly diagnosed female cancers in 2010. There are several risk factors affecting the incidence of breast cancer where some factors influence the risk more than the others. Aim: We aimed to identify the different risk factors related to breast cancer among females participating in the breast-screening program in Riyadh, KSA. Methods: Based on data from phase-I of the breast-screening program, a case-control study was conducted on women living in Riyadh, KSA. A sample of 349 women (58 cases and 290 controls) was recruited to examine the different breast cancer correlates. Multivariate regression model was built to investigate the most important risk factors. Results: The mean age of cases was 48.5 ± 7.1 years. Age at marriage, number of pregnancy, age at menopause, oral contraceptive pills, breast feeding and family history of breast cancer in first-degree relative were identified as the most important correlates among the studied cohort. Conclusions: The findings of the current work suggested that age at marriage, age at menopause ≥50 years, and 1st degree family history of breast cancer were risk factors for breast cancer, while, age at menopause<50 years, number of pregnancies and practicing breast feeding were protective factors against breast cancer. There was no effect of body mass index or physical inactivity. Further studies are needed to explore the hereditary, familial and genetic background risk factors in Saudi population.

  10. Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland).

    Middleton, Anna; Patch, Chris; Wiggins, Jennifer; Barnes, Kathy; Crawford, Gill; Benjamin, Caroline; Bruce, Anita

    2014-08-01

    The American College of Medical Genetics and Genomics released recommendations for reporting incidental findings (IFs) in clinical exome and genome sequencing. These suggest 'opportunistic genomic screening' should be available to both adults and children each time a sequence is done and would be undertaken without seeking preferences from the patient first. Should opportunistic genomic screening be implemented in the United Kingdom, the Association of Genetic Nurses and Counsellors (AGNC), which represents British and Irish genetic counsellors and nurses, feels strongly that the following must be considered (see article for complete list): (1) Following appropriate genetic counselling, patients should be allowed to consent to or opt out of opportunistic genomic screening. (2) If true IFs are discovered the AGNC are guided by the report from the Joint Committee on Medical Genetics about the sharing of genetic testing results. (3) Children should not be routinely tested for adult-onset conditions. (4) The formation of a list of variants should involve a representative from the AGNC as well as a patient support group. (5) The variants should be for serious or life-threatening conditions for which there are treatments or preventative strategies available. (6) There needs to be robust evidence that the benefits of opportunistic screening outweigh the potential harms. (7) The clinical validity and utility of variants should be known. (8) There must be a quality assurance framework that operates to International standards for laboratory testing. (9) Psychosocial research is urgently needed in this area to understand the impact on patients.

  11. Genetic high throughput screening in Retinitis Pigmentosa based on high resolution melting (HRM) analysis.

    Anasagasti, Ander; Barandika, Olatz; Irigoyen, Cristina; Benitez, Bruno A; Cooper, Breanna; Cruchaga, Carlos; López de Munain, Adolfo; Ruiz-Ederra, Javier

    2013-11-01

    Retinitis Pigmentosa (RP) involves a group of genetically determined retinal diseases caused by a large number of mutations that result in rod photoreceptor cell death followed by gradual death of cone cells. Most cases of RP are monogenic, with more than 80 associated genes identified so far. The high number of genes and variants involved in RP, among other factors, is making the molecular characterization of RP a real challenge for many patients. Although HRM has been used for the analysis of isolated variants or single RP genes, as far as we are concerned, this is the first study that uses HRM analysis for a high-throughput screening of several RP genes. Our main goal was to test the suitability of HRM analysis as a genetic screening technique in RP, and to compare its performance with two of the most widely used NGS platforms, Illumina and PGM-Ion Torrent technologies. RP patients (n = 96) were clinically diagnosed at the Ophthalmology Department of Donostia University Hospital, Spain. We analyzed a total of 16 RP genes that meet the following inclusion criteria: 1) size: genes with transcripts of less than 4 kb; 2) number of exons: genes with up to 22 exons; and 3) prevalence: genes reported to account for, at least, 0.4% of total RP cases worldwide. For comparison purposes, RHO gene was also sequenced with Illumina (GAII; Illumina), Ion semiconductor technologies (PGM; Life Technologies) and Sanger sequencing (ABI 3130xl platform; Applied Biosystems). Detected variants were confirmed in all cases by Sanger sequencing and tested for co-segregation in the family of affected probands. We identified a total of 65 genetic variants, 15 of which (23%) were novel, in 49 out of 96 patients. Among them, 14 (4 novel) are probable disease-causing genetic variants in 7 RP genes, affecting 15 patients. Our HRM analysis-based study, proved to be a cost-effective and rapid method that provides an accurate identification of genetic RP variants. This approach is effective for

  12. [Prevalence of diseases diagnosed by the Program of Neonatal Screening in Maringá, Paraná, Brazil: 2001-2006].

    Luz, Geisa dos Santos; Carvalho, Maria Dalva de Barros; Pelloso, Sandra Marisa; Higarashi, Ieda Harumi

    2008-09-01

    Irreversible sequels of some genetic diseases can be prevented by neonatal screening. The aim of this paper was to verify the prevalence of diseases diagnosed by the National Program of Neonatal Screening (PNTN) in Maringá, Paraná, Brazil, between 2001 and 2006. This cross-sectional descriptive study included 20,529 newborn infants screened by that program. Out of those, 859 were re-examined, and 21 had the disease confirmed. Considering all screened newborn infants and the number of diagnostics per disease, the following disease prevalence was determine: phenylketonuria--1:20,529; congenital hypothyrodism--1:2,281; hemoglobinopahies--1:3,421; cystic fibrosis--1:10,264; and biotinidase deficiency--1:6,843. Understanding disease status and prevalence of newborns in a population allows the establishment and the improvement of public policies aimed at the children.

  13. Is preimplantation genetic diagnosis the ideal embryo selection method in aneuploidy screening?

    Levent Sahin

    2014-10-01

    Full Text Available To select cytogenetically normal embryos, preimplantation genetic diagnosis (PGD aneuploidy screening (AS is used in numerous centers around the world. Chromosomal abnormalities lead to developmental problems, implantation failure, and early abortion of embryos. The usefulness of PGD in identifying single-gene diseases, human leukocyte antigen typing, X-linked diseases, and specific genetic diseases is well-known. In this review, preimplantation embryo genetics, PGD research studies, and the European Society of Human Reproduction and Embryology PGD Consortium studies and reports are examined. In addition, criteria for embryo selection, technical aspects of PGD-AS, and potential noninvasive embryo selection methods are described. Indications for PGD and possible causes of discordant PGD results between the centers are discussed. The limitations of fluorescence in situ hybridization, and the advantages of the array comparative genomic hybridization are included in this review. Although PGD-AS for patients of advanced maternal age has been shown to improve in vitro fertilization outcomes in some studies, to our knowledge, there is not sufficient evidence to use advanced maternal age as the sole indication for PGD-AS. PGD-AS might be harmful and may not increase the success rates of in vitro fertilization. At the same time PGD, is not recommended for recurrent implantation failure and unexplained recurrent pregnancy loss.

  14. A Call to Include Severe Combined Immunodeficiency in Newborn Screening Program

    Raz Somech; Amos Etzioni

    2014-01-01

    Quantification of the T cell receptor excision circles (TRECs) has recently emerged as a useful non-invasive clinical and research tool to investigate thymic activity. It allows the identification of T cell production by the thymus. Quantification of TREC copies has recently been implemented as the preferred test to screen neonates with severe combined immunodeficiency (SCID) or significant lymphopenia. Neonatal genetic screening for SCID is highly important in countries with high rates of co...

  15. Kennedy Space Center Coronary Heart Disease Risk Screening Program

    Tipton, David A.; Scarpa, Philip J.

    1999-01-01

    interested in implementing a similar program at their NASA Center. Questions were asked pertaining to standardization for age, the validity of using the idealized male values also for the female population, and indications of the screening test's sensitivity and specificity.

  16. Data integration and warehousing: coordination between newborn screening and related public health programs.

    Therrell, Bradford L

    2003-01-01

    At birth, patient demographic and health information begin to accumulate in varied databases. There are often multiple sources of the same or similar data. New public health programs are often created without considering data linkages. Recently, newborn hearing screening (NHS) programs and immunization programs have virtually ignored the existence of newborn dried blood spot (DBS) newborn screening databases containing similar demographic data, creating data duplication in their 'new' systems. Some progressive public health departments are developing data warehouses of basic, recurrent patient information, and linking these databases to other health program databases where programs and services can benefit from such linkages. Demographic data warehousing saves time (and money) by eliminating duplicative data entry and reducing the chances of data errors. While newborn screening data are usually the first data available, they should not be the only data source considered for early data linkage or for populating a data warehouse. Birth certificate information should also be considered along with other data sources for infants that may not have received newborn screening or who may have been born outside of the jurisdiction and not have birth certificate information locally available. This newborn screening serial number provides a convenient identification number for use in the DBS program and for linking with other systems. As a minimum, data linkages should exist between newborn dried blood spot screening, newborn hearing screening, immunizations, birth certificates and birth defect registries.

  17. Newborn screening for congenital cytomegalovirus: Options for hospital-based and public health programs.

    Grosse, Scott D; Dollard, Sheila; Ross, Danielle S; Cannon, Michael

    2009-12-01

    Congenital cytomegalovirus (CMV) infection is a leading cause of sensorineural hearing loss (SNHL) and developmental disability in children. Early identification of infected children through screening could allow for early intervention and improvement in functional outcomes among the subset who develop sequelae. To outline potential options and strategies for screening newborns for congenital CMV infection and to discuss barriers to screening and data needs to inform future policy decisions. Commentary based on the literature and expert opinion on newborn dried blood spot screening, newborn hearing screening/Early Hearing Detection and Intervention (EHDI) programs, and congenital CMV. Although no population-based screening for congenital CMV is underway, pilot newborn screening studies using a variety of assays with urine or dried blood spot specimens are underway. Challenges to screening are both practical-uncertain sensitivity of blood spot assays suitable for large-scale screening and lack of infrastructure for collection of urine specimens; and evidentiary-the need to demonstrate improved outcomes and value of screening to offset the expense and potential adverse psychosocial consequences for children and families whose children require periodic monitoring but never develop sequelae. Screening for congenital CMV infection is a potentially important intervention that merits additional research, including the logistical feasibility of different screening options and psychosocial consequences for families.

  18. CDC’s Newborn Screening Program - Role of Laboratories

    When newborn screening started in the U.S. 50 years ago, many questioned whether it was even possible to test every baby born in every state. Today, all states screen babies for at least 29 disorders that can be detected through laboratory testing. In this podcast, Dr. Carla Cuthbert talks about CDC’s Newborn Screening Quality Assurance Program and the role laboratories play in keeping babies healthy.

  19. Evaluation of a patient navigation program to promote colorectal cancer screening in rural Georgia, USA.

    Honeycutt, Sally; Green, Rhonda; Ballard, Denise; Hermstad, April; Brueder, Alex; Haardörfer, Regine; Yam, Jennifer; Arriola, Kimberly J

    2013-08-15

    Colorectal cancer (CRC) is a leading cause of cancer death in the United States. Early detection through recommended screening has been shown to have favorable treatment outcomes, yet screening rates among the medically underserved and uninsured are low, particularly for rural and minority populations. This study evaluated the effectiveness of a patient navigation program that addresses individual and systemic barriers to CRC screening for patients at rural, federally qualified community health centers. This quasi-experimental evaluation compared low-income patients at average risk for CRC (n = 809) from 4 intervention clinics and 9 comparison clinics. We abstracted medical chart data on patient demographics, CRC history and risk factors, and CRC screening referrals and examinations. Outcomes of interest were colonoscopy referral and examination during the study period and being compliant with recommended screening guidelines at the end of the study period. We conducted multilevel logistic analyses to evaluate the program's effectiveness. Patients at intervention clinics were significantly more likely than patients at comparison clinics to undergo colonoscopy screening (35% versus 7%, odds ratio = 7.9, P screening test (43% versus 11%, odds ratio = 5.9, P Screening Program, can be an effective approach to ensure that lifesaving, preventive health screenings are provided to low-income adults in a rural setting. Copyright © 2013 American Cancer Society.

  20. "Pepsi": A Screening and Programming Tool for Understanding the Whole Child.

    Ellsworth, J'Anne

    1996-01-01

    This article discusses using "PEPSI", a screening and programming method that evaluates the physical, emotional, philosophical, social, and intellectual levels of development in children with disabilities. The steps in the PEPSI screening process are described and a case study is provided. A chart depicting indicators in teaching respect for self…

  1. 77 FR 35745 - Highway Safety Programs; Conforming Products List of Screening Devices To Measure Alcohol in...

    2012-06-14

    ..., battery powered device with a semiconductor sensor. (2) Alcohol Countermeasure Systems Corp., submitted...-0062] Highway Safety Programs; Conforming Products List of Screening Devices To Measure Alcohol in... Screening Devices to Measure Alcohol in Bodily Fluids dated, March 31, 2008 (73 FR 16956). DATES: Effective...

  2. WE-D-207-01: Background and Clinical Implementation of a Screening Program

    Aberle, D.

    2015-01-01

    In the United States, Lung Cancer is responsible for more cancer deaths than the next four cancers combined. In addition, the 5 year survival rate for lung cancer patients has not improved over the past 40 to 50 years. To combat this deadly disease, in 2002 the National Cancer Institute launched a very large Randomized Control Trial called the National Lung Screening Trial (NLST). This trial would randomize subjects who had substantial risk of lung cancer (due to age and smoking history) into either a Chest X-ray arm or a low dose CT arm. In November 2010, the National Cancer Institute announced that the NLST had demonstrated 20% fewer lung cancer deaths among those who were screened with low-dose CT than with chest X-ray. In December 2013, the US Preventive Services Task Force recommended the use of Lung Cancer Screening using low dose CT and a little over a year later (Feb. 2015), CMS announced that Medicare would also cover Lung Cancer Screening using low dose CT. Thus private and public insurers are required to provide Lung Cancer Screening programs using CT to the appropriate population(s). The purpose of this Symposium is to inform medical physicists and prepare them to support the implementation of Lung Screening programs. This Symposium will focus on the clinical aspects of lung cancer screening, requirements of a screening registry for systematically capturing and tracking screening patients and results (such as required Medicare data elements) as well as the role of the medical physicist in screening programs, including the development of low dose CT screening protocols. Learning Objectives: To understand the clinical basis and clinical components of a lung cancer screening program, including eligibility criteria and other requirements. To understand the data collection requirements, workflow, and informatics infrastructure needed to support the tracking and reporting components of a screening program. To understand the role of the medical physicist in

  3. The attitudes of Dutch fertility specialists towards the addition of genetic testing in screening of tubal factor infertility.

    Malogajski, Jelena; Jansen, Marleen E; Ouburg, Sander; Ambrosino, Elena; Terwee, Caroline B; Morré, Servaas A

    2017-06-01

    This study aims to identify elements perceived by Dutch fertility specialists as barriers and facilitators for the introduction of genetic testing, and their attitudes towards the use of genetic information. The genetic test would be implemented in routine screening for tubal pathology and identifies SNPs relevant for the immune response causing tubal pathology. Experienced reproductive specialists working in Dutch Academic Hospitals were interviewed. Based on the results of four interviews a questionnaire was developed and used to survey medical doctors in six out of eight Dutch Academic hospitals. 60.4% (n=91) stated that the addition of genetic markers to the Chlamydia trachomatis antibody test (CAT) in screening for tubal pathology would increase screening accuracy. 68.2% (n=90) agreed they would require additional training on clinical genetics. Clinical utility (91.2%, n=91) and cost-effectiveness (95.6%, n=91) were recognized by the respondents as important factors in gaining support for the new screening strategy. In summary, respondents showed a positive attitude towards the implementation of a genetic test combined with CAT for tubal factor infertility (TFI) screening. To gain their support the majority of respondents agreed that clinical utility, specifically cost-effectiveness, is an important factor. Comprehensive research about economic implications and utility regarding the introduction of genomic markers should be the next step in the implementation strategy. Furthermore, education and training would need to be developed and offered to fertility care professionals about genetic markers, their interpretation, and implications for clinical decision-making. Copyright © 2017 Elsevier B.V. All rights reserved.

  4. STRATEGIES TO REDUCE OR REPLACE THE USE OF ANIMALS IN THE ENDOCRINE SCREENING AND TESTING PROGRAM.

    Abstract: The US Environmental Protection Agency (EPA) is developing a screening and testing program for endocrine disrupting chemicals (EDCs) to detect alterations of hypothalamic-pituitary-gonadal (HPG) function, estrogen, androgen and thyroid hormone synthesis and androgen (AR...

  5. Stream Flow Prediction by Remote Sensing and Genetic Programming

    Chang, Ni-Bin

    2009-01-01

    A genetic programming (GP)-based, nonlinear modeling structure relates soil moisture with synthetic-aperture-radar (SAR) images to present representative soil moisture estimates at the watershed scale. Surface soil moisture measurement is difficult to obtain over a large area due to a variety of soil permeability values and soil textures. Point measurements can be used on a small-scale area, but it is impossible to acquire such information effectively in large-scale watersheds. This model exhibits the capacity to assimilate SAR images and relevant geoenvironmental parameters to measure soil moisture.

  6. Implementation of a Targeted Screening Program to Detect Airflow Obstruction Suggestive of Chronic Obstructive Pulmonary Disease within a Presurgical Screening Clinic

    Chantal Robitaille

    2015-01-01

    Full Text Available BACKGROUND: Targeted spirometry screening for chronic obstructive pulmonary disease (COPD has been studied in primary care and community settings. Limitations regarding availability and quality of testing remain. A targeted spirometry screening program was implemented within a presurgical screening (PSS clinic to detect undiagnosed airways disease and identify patients with COPD/asthma in need of treatment optimization.

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

    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.

  8. Screening of genetic parameters for soluble protein expression in Escherichia coli

    Vernet, Erik; Kotzsch, Alexander; Voldborg, Bjørn

    2011-01-01

    Soluble expression of proteins in a relevant form for functional and structural investigations still often remains a challenge. Although many biochemical factors are known to affect solubility, a thorough investigation of yield-limiting factors is normally not feasible in high-throughput efforts....... Here we present a screening strategy for expression of biomedically relevant proteins in Escherichia coli using a panel of six different genetic variations. These include engineered strains for rare codon supplementation, increased disulfide bond formation in the cytoplasm and novel vectors...... for secretion to the periplasm or culture medium. Combining these variants with expression construct truncations design, we report on parallel cloning and expression of more than 300 constructs representing 24 selected proteins; including full-length variants of human growth factors, interleukins and growth...

  9. Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

    Kauffman, Tia L.; Wilfond, Benjamin S.; Jarvik, Gail P.; Leo, Michael C.; Lynch, Frances L.; Reiss, Jacob A.; Richards, C. Sue; McMullen, Carmit; Nickerson, Deborah; Dorschner, Michael O.; Goddard, Katrina A.B.

    2016-01-01

    Population-based carrier screening is limited to well-studied or high-impact genetic conditions for which the benefits may outweigh the associated harms and costs. As the cost of genome sequencing declines and availability increases, the balance of risks and benefits may change for a much larger number of genetic conditions, including medically actionable additional findings. We designed an RCT to evaluate genomic clinical sequencing for women and partners considering a pregnancy. All results...

  10. Programming peptidomimetic syntheses by translating genetic codes designed de novo.

    Forster, Anthony C; Tan, Zhongping; Nalam, Madhavi N L; Lin, Hening; Qu, Hui; Cornish, Virginia W; Blacklow, Stephen C

    2003-05-27

    Although the universal genetic code exhibits only minor variations in nature, Francis Crick proposed in 1955 that "the adaptor hypothesis allows one to construct, in theory, codes of bewildering variety." The existing code has been expanded to enable incorporation of a variety of unnatural amino acids at one or two nonadjacent sites within a protein by using nonsense or frameshift suppressor aminoacyl-tRNAs (aa-tRNAs) as adaptors. However, the suppressor strategy is inherently limited by compatibility with only a small subset of codons, by the ways such codons can be combined, and by variation in the efficiency of incorporation. Here, by preventing competing reactions with aa-tRNA synthetases, aa-tRNAs, and release factors during translation and by using nonsuppressor aa-tRNA substrates, we realize a potentially generalizable approach for template-encoded polymer synthesis that unmasks the substantially broader versatility of the core translation apparatus as a catalyst. We show that several adjacent, arbitrarily chosen sense codons can be completely reassigned to various unnatural amino acids according to de novo genetic codes by translating mRNAs into specific peptide analog polymers (peptidomimetics). Unnatural aa-tRNA substrates do not uniformly function as well as natural substrates, revealing important recognition elements for the translation apparatus. Genetic programming of peptidomimetic synthesis should facilitate mechanistic studies of translation and may ultimately enable the directed evolution of small molecules with desirable catalytic or pharmacological properties.

  11. Experimental control of a fluidic pinball using genetic programming

    Raibaudo, Cedric; Zhong, Peng; Noack, Bernd R.; Martinuzzi, Robert J.

    2017-11-01

    The wake stabilization of a triangular cluster of three rotating cylinders was investigated in the present study. Experiments were performed at Reynolds number Re 6000, and compared with URANS-2D simulations at same flow conditions. 2D2C PIV measurements and constant temperature anemometry were used to characterize the flow without and with actuation. Open-loop actuation was first considered for the identification of particular control strategies. Machine learning control was also implemented for the experimental study. Linear genetic programming has been used for the optimization of open-loop parameters and closed-loop controllers. Considering a cost function J based on the fluctuations of the velocity measured by the hot-wire sensor, significant performances were achieved using the machine learning approach. The present work is supported by the senior author's (R. J. Martinuzzi) NSERC discovery Grant. C. Raibaudo acknowledges the financial support of the University of Calgary Eyes-High PDF program.

  12. A genetic screen reveals a periplasmic copper chaperone required for nitrite reductase activity in pathogenic Neisseria.

    Jen, Freda E-C; Djoko, Karrera Y; Bent, Stephen J; Day, Christopher J; McEwan, Alastair G; Jennings, Michael P

    2015-09-01

    Under conditions of low oxygen availability, Neisseria meningitidis and Neisseria gonorrhoeae are able to respire via a partial denitrification pathway in which nitrite is converted to nitrous oxide. In this process, nitrite reductase (AniA), a copper (Cu)-containing protein converts nitrite to NO, and this product is converted to nitrous oxide by nitric oxide reductase (NorB). NorB also confers protection against toxic NO, and so we devised a conditional lethal screen, using a norB mutant, to identify mutants that were resistant to nitrite-dependent killing. After random-deletion mutagenesis of N. meningitidis, this genetic screen identified a gene encoding a Cu chaperone that is essential for AniA function, AccA. Purified AccA binds one Cu (I) ion and also possesses a second binding site for Cu (II). This novel periplasmic Cu chaperone (AccA) appears to be essential for provision of Cu ions to AniA of pathogenic Neisseria to generate an active nitrite reductase. Apart from the Neisseria genus, AccA is distributed across a wide range of environmental Proteobacteria species. © FASEB.

  13. The minisequencing method: a simple strategy for genetic screening of MEN 2 families

    Domingues Rita

    2002-05-01

    Full Text Available Abstract Background Multiple endocrine neoplasia type 2 is an autosomal dominant disorder. MEN 2A is characterized by medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism; MEN 2B by medullary thyroid carcinoma, pheochromocytoma and characteristic stigmata. Activating germline mutations of the RET proto oncogene are responsible for this hereditary syndrome. Codon 634 mutations are the most common mutations occurring in MEN 2A families whereas a specific mutation at codon 918 is observed in the great majority of MEN 2B families. Analysis of these codons will provide a final diagnosis in the great majority of affected families making unnecessary further studies. To specifically study the codons 634 and 918 we used a minisequencing method as an alternative method to complete sequencing. Results Using this mutation detection method we were able to reproduce in all cases, representative of 7 families, the information previously obtained by direct sequencing of PCR products. Depending on the number of primers used in the minisequencing reaction, we were able to interrogate either only one nucleotide of the target codon or the three nucleotides simultaneously. Conclusions This technique appears as a simple, rapid and efficient method for genetic screening of MEN 2 families. It can be utilized to seek for unknown mutations at specific codons or to screen for previously identified mutations and is therefore of interest to study index cases or individuals at risk. Results suggest that complete sequencing is unnecessary.

  14. Comparative genetic screens in human cells reveal new regulatory mechanisms in WNT signaling

    Lebensohn, Andres M; Dubey, Ramin; Neitzel, Leif R; Tacchelly-Benites, Ofelia; Yang, Eungi; Marceau, Caleb D; Davis, Eric M; Patel, Bhaven B; Bahrami-Nejad, Zahra; Travaglini, Kyle J; Ahmed, Yashi; Lee, Ethan; Carette, Jan E; Rohatgi, Rajat

    2016-01-01

    The comprehensive understanding of cellular signaling pathways remains a challenge due to multiple layers of regulation that may become evident only when the pathway is probed at different levels or critical nodes are eliminated. To discover regulatory mechanisms in canonical WNT signaling, we conducted a systematic forward genetic analysis through reporter-based screens in haploid human cells. Comparison of screens for negative, attenuating and positive regulators of WNT signaling, mediators of R-spondin-dependent signaling and suppressors of constitutive signaling induced by loss of the tumor suppressor adenomatous polyposis coli or casein kinase 1α uncovered new regulatory features at most levels of the pathway. These include a requirement for the transcription factor AP-4, a role for the DAX domain of AXIN2 in controlling β-catenin transcriptional activity, a contribution of glycophosphatidylinositol anchor biosynthesis and glypicans to R-spondin-potentiated WNT signaling, and two different mechanisms that regulate signaling when distinct components of the β-catenin destruction complex are lost. The conceptual and methodological framework we describe should enable the comprehensive understanding of other signaling systems. DOI: http://dx.doi.org/10.7554/eLife.21459.001 PMID:27996937

  15. Interval Cancers in a Population-Based Screening Program for Colorectal Cancer in Catalonia, Spain

    M. Garcia

    2015-01-01

    Full Text Available Objective. To analyze interval cancers among participants in a screening program for colorectal cancer (CRC during four screening rounds. Methods. The study population consisted of participants of a fecal occult blood test-based screening program from February 2000 to September 2010, with a 30-month follow-up (n = 30,480. We used hospital administration data to identify CRC. An interval cancer was defined as an invasive cancer diagnosed within 30 months of a negative screening result and before the next recommended examination. Gender, age, stage, and site distribution of interval cancers were compared with those in the screen-detected group. Results. Within the study period, 97 tumors were screen-detected and 74 tumors were diagnosed after a negative screening. In addition, 17 CRC (18.3% were found after an inconclusive result and 2 cases were diagnosed within the surveillance interval (2.1%. There was an increase of interval cancers over the four rounds (from 32.4% to 46.0%. When compared with screen-detected cancers, interval cancers were found predominantly in the rectum (OR: 3.66; 95% CI: 1.51–8.88 and at more advanced stages (P=0.025. Conclusion. There are large numbers of cancer that are not detected through fecal occult blood test-based screening. The low sensitivity should be emphasized to ensure that individuals with symptoms are not falsely reassured.

  16. GAPscreener: An automatic tool for screening human genetic association literature in PubMed using the support vector machine technique

    Khoury Muin J

    2008-04-01

    Full Text Available Abstract Background Synthesis of data from published human genetic association studies is a critical step in the translation of human genome discoveries into health applications. Although genetic association studies account for a substantial proportion of the abstracts in PubMed, identifying them with standard queries is not always accurate or efficient. Further automating the literature-screening process can reduce the burden of a labor-intensive and time-consuming traditional literature search. The Support Vector Machine (SVM, a well-established machine learning technique, has been successful in classifying text, including biomedical literature. The GAPscreener, a free SVM-based software tool, can be used to assist in screening PubMed abstracts for human genetic association studies. Results The data source for this research was the HuGE Navigator, formerly known as the HuGE Pub Lit database. Weighted SVM feature selection based on a keyword list obtained by the two-way z score method demonstrated the best screening performance, achieving 97.5% recall, 98.3% specificity and 31.9% precision in performance testing. Compared with the traditional screening process based on a complex PubMed query, the SVM tool reduced by about 90% the number of abstracts requiring individual review by the database curator. The tool also ascertained 47 articles that were missed by the traditional literature screening process during the 4-week test period. We examined the literature on genetic associations with preterm birth as an example. Compared with the traditional, manual process, the GAPscreener both reduced effort and improved accuracy. Conclusion GAPscreener is the first free SVM-based application available for screening the human genetic association literature in PubMed with high recall and specificity. The user-friendly graphical user interface makes this a practical, stand-alone application. The software can be downloaded at no charge.

  17. Forward genetic screening for regulators involved in cholesterol synthesis using validation-based insertional mutagenesis.

    Wei Jiang

    Full Text Available Somatic cell genetics is a powerful approach for unraveling the regulatory mechanism of cholesterol metabolism. However, it is difficult to identify the mutant gene(s due to cells are usually mutagenized chemically or physically. To identify important genes controlling cholesterol biosynthesis, an unbiased forward genetics approach named validation-based insertional mutagenesis (VBIM system was used to isolate and characterize the 25-hydroxycholesterol (25-HC-resistant and SR-12813-resistant mutants. Here we report that five mutant cell lines were isolated. Among which, four sterol-resistant mutants either contain a truncated NH2-terminal domain of sterol regulatory element-binding protein (SREBP-2 terminating at amino acids (aa 400, or harbor an overexpressed SREBP cleavage-activating protein (SCAP. Besides, one SR-12813 resistant mutant was identified to contain a truncated COOH-terminal catalytic domain of 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-CoA reductase. This study demonstrates that the VBIM system can be a powerful tool to screen novel regulatory genes in cholesterol biosynthesis.

  18. Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion.

    Koutsis, G; Karadima, G; Pandraud, A; Sweeney, M G; Paudel, R; Houlden, H; Wood, N W; Panas, M

    2012-09-01

    Huntington’s disease (HD) is an autosomal dominant disorder characterized by a triad of chorea, psychiatric disturbance and cognitive decline. Around 1% of patients with HD-like symptoms lack the causative HD expansion and are considered HD phenocopies. Genetic diseases that can present as HD phenocopies include HD-like syndromes such as HDL1, HDL2 and HDL4 (SCA17), some spinocerebellar ataxias (SCAs) and dentatorubral-pallidoluysian atrophy (DRPLA). In this study we screened a cohort of 21 Greek patients with HD phenocopy syndromes formutations causing HDL2, SCA17, SCA1, SCA2, SCA3,SCA8, SCA12 and DRPLA. Fifteen patients (71%) had a positive family history. We identified one patient (4.8% of the total cohort) with an expansion of 81 combined CTA/CTG repeats at the SCA8 locus. This falls within what is believed to be the high-penetrance allele range. In addition to the classic HD triad, the patient had features of dystonia and oculomotor apraxia. There were no cases of HDL2, SCA17, SCA1, SCA2, SCA3, SCA12 or DRPLA. Given the controversy surrounding the SCA8 expansion, the present finding may be incidental. However, if pathogenic, it broadens the phenotype that may be associated with SCA8 expansions. The absence of any other mutations in our cohort is not surprising, given the low probability of reaching a genetic diagnosis in HD phenocopy patients.

  19. Towards Merging Binary Integer Programming Techniques with Genetic Algorithms

    Reza Zamani

    2017-01-01

    Full Text Available This paper presents a framework based on merging a binary integer programming technique with a genetic algorithm. The framework uses both lower and upper bounds to make the employed mathematical formulation of a problem as tight as possible. For problems whose optimal solutions cannot be obtained, precision is traded with speed through substituting the integrality constrains in a binary integer program with a penalty. In this way, instead of constraining a variable u with binary restriction, u is considered as real number between 0 and 1, with the penalty of Mu(1-u, in which M is a large number. Values not near to the boundary extremes of 0 and 1 make the component of Mu(1-u large and are expected to be avoided implicitly. The nonbinary values are then converted to priorities, and a genetic algorithm can use these priorities to fill its initial pool for producing feasible solutions. The presented framework can be applied to many combinatorial optimization problems. Here, a procedure based on this framework has been applied to a scheduling problem, and the results of computational experiments have been discussed, emphasizing the knowledge generated and inefficiencies to be circumvented with this framework in future.

  20. Adherence to the cervical cancer screening program in women living with HIV in Denmark

    Thorsteinsson, Kristina; Ladelund, Steen; Jensen-Fangel, Søren

    2014-01-01

    BACKGROUND: Women living with HIV (WLWH) are at increased risk of invasive cervical cancer (ICC). International HIV guidelines suggest cervical screening twice the first year after HIV diagnosis and thereafter annually. Adherence to the HIV cervical screening program in Denmark is unknown. METHODS......: We studied women from a population-based, nationwide HIV cohort in Denmark and a cohort of age-matched females from the general population. Screening behaviour was assessed from 1999-2010. Adjusted odds ratios (OR's) for screening attendance in the two cohorts and potential predictors of attendance....... CONCLUSIONS: The majority of WLWH do not follow the HIV guidelines for cervical screening. We support the idea of cytology as part of an annual review and integration of HIV care and cervical screening in a single clinic setting....

  1. Corporate-sponsored low-cost screening program at the workplace

    Kessler, H.B.; Engstrom, P.F.; Devine, P.J.; Rimer, B.; Gatenby, R.A.

    1989-01-01

    This paper reports the results of a mobile screening mammography program offered to employees of a large corporation. The examination was available to women 35 or older. Women were charged $30 for a standard two-view examination; the remaining costs were underwritten by the employer. In the first year of the program 3,627 examination were performed; 63 biopsies were recommended. To date, 54 biopsies have been completed. Nine cancers were identified; seven state I and two stage II cancers were diagnosed. The distribution and prevalence rates were similar to (slightly higher than) statewide statistics. Mobile screening programs conducted at the worksite provide an inexpensive convenient alternation to more traditional screening programs. The inherent advantages of this program are the low cost, relative ease with which the examination can be obtained, and the positive role that corporate medical personnel assume in encouraging participation

  2. IFF, Full-Screen Input Menu Generator for FORTRAN Program

    Seidl, Albert

    1991-01-01

    1 - Description of program or function: The IFF-package contains input modules for use within FORTRAN programs. This package enables the programmer to easily include interactive menu-directed data input (module VTMEN1) and command-word processing (module INPCOM) into a FORTRAN program. 2 - Method of solution: No mathematical operations are performed. 3 - Restrictions on the complexity of the problem: Certain restrictions of use may arise from the dimensioning of arrays. Field lengths are defined via PARAMETER-statements

  3. Mammographic density and histopathologic characteristics of screen-detected tumors in the Norwegian Breast Cancer Screening Program

    Moshina, Nataliia; Ursin, Giske; Hoff, Solveig Roth; Akslen, Lars A; Roman, Marta; Sebuødegård, Sofie; Hofvind, Solveig

    2015-01-01

    High mammographic density might mask breast tumors, resulting in delayed diagnosis or missed cancers. To investigate the association between mammographic density and histopathologic tumor characteristics (histologic type, size, grade, and lymph node status) among women screened in the Norwegian Breast Cancer Screening Program. Information about 1760 screen-detected ductal carcinoma in situ (DCIS) and 7366 invasive breast cancers diagnosed among women aged 50–69 years, 1996–2010, was analyzed. The screening mammograms were classified subjectively according to the amount of fibroglandular tissue into fatty, medium dense, and dense by breast radiologists. Chi-square test was used to compare the distribution of tumor characteristics by mammographic density. Odds ratio (OR) of tumor characteristics by density was estimated by means of logistic regression, adjusting for screening mode (screen-film and full-field digital mammography), and age. Mean and median tumor size of invasive breast cancers was 13.8 and 12 mm, respectively, for women with fatty breasts, and 16.2 and 14 mm for those with dense breasts. Lymph node positive tumors were identified among 20.6% of women with fatty breasts compared with 27.2% of those with dense breasts (P < 0.001). The proportion of DCIS was significantly lower for women with fatty (15.8%) compared with dense breasts (22.0%). Women with dense breasts had an increased risk of large (OR, 1.44; 95% CI, 1.18–1.73) and lymph node positive tumors (OR, 1.26; 95% CI, 1.05–1.51) compared with women with fatty and medium dense breasts. High mammographic density was positively associated with tumor size and lymph node positive tumors

  4. Effectiveness of a two-step population-based osteoporosis screening program using FRAX

    Rubin, K H; Rothmann, M J; Holmberg, T

    2018-01-01

    The Risk-stratified Osteoporosis Strategy Evaluation (ROSE) study investigated the effectiveness of a two-step screening program for osteoporosis in women. We found no overall reduction in fractures from systematic screening compared to the current case-finding strategy. The group of moderate......- to high-risk women, who accepted the invitation to DXA, seemed to benefit from the program. INTRODUCTION: The purpose of the ROSE study was to investigate the effectiveness of a two-step population-based osteoporosis screening program using the Fracture Risk Assessment Tool (FRAX) derived from a self......-administered questionnaire to select women for DXA scan. After the scanning, standard osteoporosis management according to Danish national guidelines was followed. METHODS: Participants were randomized to either screening or control group, and randomization was stratified according to age and area of residence. Inclusion...

  5. Targeted breast cancer screening in women younger than 40: results from a statewide program.

    Sarff, MaryClare; Schmidt, Katherine; Vetto, John T

    2008-05-01

    Our state Breast and Cervical Cancer Program (BCCP) has previously reported a paucity of data supporting breast screening for asymptomatic women younger than 40 (cancer detection rate of .25% per screening-year). In partnership with the local Affiliate of the Susan G. Komen for the Cure Foundation, we began a targeted "screening" program to evaluate women younger than 40 referred for symptoms or other concerns. Retrospective data review of program results, including demographics, symptoms, evaluations performed, and outcomes. A total of 176 women, ages 16 to 39 years, were referred to the BCCP/Komen program. Of the women with documented presenting symptoms, the most common was breast lump (81%). Evaluation triggered 75 surgical referrals and 69 biopsies, yielding 16 cancers (a biopsy positive rate of 23% and overall cancer detection rate from the program of 9%). For women younger than age 40, targeted breast cancer screening is a more efficient utilization of screening resources, with a higher cancer detection rate than asymptomatic screening.

  6. Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire: development and testing of a screening questionnaire for use in clinical cancer genetics

    Eijzenga, W.; Bleiker, E.M.A.; Hahn, D.E.E.; Kluijt, I.; Sidharta, G.N.; Gundy, C.; Aaronson, N.K.

    2014-01-01

    Background: Up to three-quarters of individuals who undergo cancer genetic counseling and testing report psychosocial problems specifically related to that setting. The objectives of this study were to develop and evaluate the screening properties of a questionnaire designed to assess specific

  7. Impact of human genome initiative-derived technology on genetic testing, screening and counseling: Cultural, ethical and legal issues. Progress report

    Trottier, R.W.; Hodgin, F.C.; Imara, M.; Phoenix, D.; Lybrook, S. [Morehouse Coll., Atlanta, GA (United States). School of Medicine; Crandall, L.A.; Moseley, R.E.; Armotrading, D. [Florida Univ., Gainesville, FL (United States). Coll. of Medicine

    1993-03-01

    Genetic medical services provided by the Georgia Division of Public Health in two northern and two central districts are compared to services provided in a district in which a tertiary care facility is located. Genetics outreach public health nurses play key roles in Georgia`s system of Children`s Health Services Genetics Program, including significant roles as counselors and information sources on special needs social services and support organizations. Unique features of individual health districts, (e.g., the changing face of some rural communities in ethnocultural diversity and socioeconomic character), present new challenges to current and future genetics services delivery. Preparedness as to educational needs of both health professionals and the lay population is of foremost concern in light of the ever expanding knowledge and technology in medical genetics. Perspectives on genetics and an overview of services offered by a local private sector counselor are included for comparison to state supported services. The nature of the interactions which transpire between private and public genetic services resources in Georgia will be described. A special focus of this research includes issues associated with sickle cell disease newborn screening service delivery process in Georgia, with particular attention paid to patient follow-up and transition to primary care. Of particular interest to this focus is the problem of loss to follow-up in the current system. Critical factors in education and counseling of sickle cell patients and the expectations of expanding roles of primary care physicians are discussed. The Florida approach to the delivery of genetic services contrasts to the Georgia model by placing more emphasis on a consultant-specialist team approach.

  8. Multiplex Polymerase Chain Reaction for Identification of Shigellae and Four Shigella Species Using Novel Genetic Markers Screened by Comparative Genomics.

    Kim, Hyun-Joong; Ryu, Ji-Oh; Song, Ji-Yeon; Kim, Hae-Yeong

    2017-07-01

    In the detection of Shigella species using molecular biological methods, previously known genetic markers for Shigella species were not sufficient to discriminate between Shigella species and diarrheagenic Escherichia coli. The purposes of this study were to screen for genetic markers of the Shigella genus and four Shigella species through comparative genomics and develop a multiplex polymerase chain reaction (PCR) for the detection of shigellae and Shigella species. A total of seven genomic DNA sequences from Shigella species were subjected to comparative genomics for the screening of genetic markers of shigellae and each Shigella species. The primer sets were designed from the screened genetic markers and evaluated using PCR with genomic DNAs from Shigella and other bacterial strains in Enterobacteriaceae. A novel Shigella quintuplex PCR, designed for the detection of Shigella genus, S. dysenteriae, S. boydii, S. flexneri, and S. sonnei, was developed from the evaluated primer sets, and its performance was demonstrated with specifically amplified results from each Shigella species. This Shigella multiplex PCR is the first to be reported with novel genetic markers developed through comparative genomics and may be a useful tool for the accurate detection of the Shigella genus and species from closely related bacteria in clinical microbiology and food safety.

  9. Low priority main reason not to participate in a colorectal cancer screening program with a faecal occult blood test

    van Rijn, A. F.; van Rossum, L. G. M.; Deutekom, M.; Laheij, R. J. F.; Fockens, P.; Bossuyt, P. M. M.; Dekker, E.; Jansen, J. B. M. J.

    2008-01-01

    Compared with screening programs for breast and cervical cancer, reported participation rates for colorectal cancer (CRC) screening are low. The effectiveness of a screening program is strongly influenced by the participation rate. The aim of this study was to investigate the main reasons not to

  10. Low priority main reason not to participate in a colorectal cancer screening program with a faecal occult blood test.

    Rijn, A.F. van; Rossum, L.G.M. van; Deutekom, M.; Laheij, R.J.F.; Fockens, P.; Bossuyt, P.M.; Dekker, E. den; Jansen, J.B.M.J.

    2008-01-01

    BACKGROUND: Compared with screening programs for breast and cervical cancer, reported participation rates for colorectal cancer (CRC) screening are low. The effectiveness of a screening program is strongly influenced by the participation rate. The aim of this study was to investigate the main

  11. MNAtoolbox: A Monitored Natural Attenuation Site Screening Program

    Borns, David J.; Brady, Patrick V.; Brady, Warren D.; Krupka, Kenneth M.; Spalding, Brian P.; Waters, Robert D.; Zhang, Pengchu

    1999-07-12

    Screening of sites for the potential application and reliance upon monitored natural attenuation (MNA) can be done using MNAtoolbox, a web-based tool for estimating extent of biodegradation, chemical transformation, and dilution. MNAtoolbox uses site-specific input data, where available (default parameters are taken from the literature), to roughly quantify the nature and extent of attenuation at a particular site. Use of MNAtoolbox provides 3 important elements of site evaluation: (1) Identifies likely attenuation pathways, (2) Clearly identifies sites where MNA is inappropriate, and (3) Evaluates data requirements for subsequent reliance on MNA as a sole or partial corrective action.

  12. Evaluation of staff performance and interpretation of the screening program for prevention of thalassemia.

    Prommetta, Simaporn; Sanchaisuriya, Kanokwan; Fucharoen, Goonnapa; Yamsri, Supawadee; Chaiboonroeng, Attawut; Fucharoen, Supan

    2017-06-15

    Thalassemia screening program has been implemented for years in Southeast Asia, but no external quality assessment program has been established. We have developed and initiated the proficiency testing (PT) program for the first time in Thailand with the aim to assess the screening performance of laboratory staff and their competency in interpretation of the screening results. Three PT cycles per year were organized. From the first to the third cycle of the PT scheme, a total number of participant laboratories increased from 59 to 67. In each cycle, 2 PT items (assigned as blood samples of the couple) were provided. Performance evaluation was based on the accuracy of screening results, i.e . mean corpuscular volume (MCV), mean corpuscular haemoglobin (MCH) and the dichlorophenolindophenol (DCIP) test for haemoglobin E, including the competency in interpretation of screening results and assessment of foetal risk. Performance was assessed by comparing the participants' result against the assigned value. Of all 3 cycles, most laboratories reported acceptable MCV and MCH values. From the first to the third cycle, incorrect DCIP test and misinterpretation rates were decreased while incorrect risk assessment varied by cycle to cycle. Combining the accuracy of thalassemia screening and the competency in interpretation and risk assessment, approximately half of participants showed excellent performance. Improved performance observed in many laboratories reflects the achievement and benefit of the PT program which should be regularly provided.

  13. A genetic screen for increasing metabolic flux in the isoprenoid pathway of Saccharomyces cerevisiae: Isolation of SPT15 mutants using the screen

    M. Wadhwa

    2016-12-01

    Full Text Available A genetic screen to identify mutants that can increase flux in the isoprenoid pathway of yeast has been lacking. We describe a carotenoid-based visual screen built with the core carotenogenic enzymes from the red yeast Rhodosporidium toruloides. Enzymes from this yeast displayed the required, higher capacity in the carotenoid pathway. The development also included the identification of the metabolic bottlenecks, primarily phytoene dehydrogenase, that was subjected to a directed evolution strategy to yield more active mutants. To further limit phytoene pools, a less efficient version of GGPP synthase was employed. The screen was validated with a known flux increasing gene, tHMG1. New mutants in the TATA binding protein SPT15 were isolated using this screen that increased the yield of carotenoids, and an alternate isoprenoid, α-Farnesene confirming increase in overall flux. The findings indicate the presence of previously unknown links to the isoprenoid pathway that can be uncovered using this screen. Keywords: Metabolic engineering, Carotenoids, Isoprenoids, α-Farnesene, Rhodosporidium toruloides, SPT15

  14. Comprehensive bidding strategies with genetic programming/finite state automata

    Richter, C.W. Jr.; Sheble, G.B.; Ashlock, D.

    1999-01-01

    This research is an extension of the authors' previous work in double auctions aimed at developing bidding strategies for electric utilities which trade electricity competitively. The improvements detailed in this paper come from using data structures which combine genetic programming and finite state automata termed GP-Automata. The strategies developed by the method described here are adaptive--reacting to inputs--whereas the previously developed strategies were only suitable in the particular scenario for which they had been designed. The strategies encoded in the GP-Automata are tested in an auction simulator. The simulator pits them against other distribution companies (distcos) and generation companies (gencos), buying and selling power via double auctions implemented in regional commodity exchanges. The GP-Automata are evolved with a genetic algorithm so that they possess certain characteristics. In addition to designing successful bidding strategies (whose usage would result in higher profits) the resulting strategies can also be designed to imitate certain types of trading behaviors. The resulting strategies can be implemented directly in on-line trading, or can be used as realistic competitors in an off-line trading simulator

  15. Forecasting tourist arrivals to balearic islands using genetic programming

    Rosselló-Nadal, Jaume

    2007-01-01

    Full Text Available Traditionally, univariate time-series models have largely dominated forecasting for international tourism demand. In this paper, the ability of a Genetic Program (GP to predict monthly tourist arrivals from UK and Germany to Balearic Islands (Spain is explored. GP has already been employed satisfactorily in different scientific areas, including economics. The technique shows different advantages regarding to other forecasting methods. Firstly, it does not assume a priori a rigid functional form of the model. Secondly, it is more robust and easy-to-use than other non-parametric methods. Finally, it provides explicitly a mathematical equation which allows a simple ad hoc interpretation of the results. Comparing the performance of the proposed technique against other method commonly used in tourism forecasting (no-change model, Moving Average and ARIMA, the empirical results reveal that GP can be a valuable tool in this field.

  16. A Comparison of Genetic Programming Variants for Hyper-Heuristics

    Harris, Sean [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States)

    2015-03-01

    Modern society is faced with ever more complex problems, many of which can be formulated as generate-and-test optimization problems. General-purpose optimization algorithms are not well suited for real-world scenarios where many instances of the same problem class need to be repeatedly and efficiently solved, such as routing vehicles over highways with constantly changing traffic flows, because they are not targeted to a particular scenario. Hyper-heuristics automate the design of algorithms to create a custom algorithm for a particular scenario. Hyper-heuristics typically employ Genetic Programming (GP) and this project has investigated the relationship between the choice of GP and performance in Hyper-heuristics. Results are presented demonstrating the existence of problems for which there is a statistically significant performance differential between the use of different types of GP.

  17. Genetic Programming and Standardization in Water Temperature Modelling

    Maritza Arganis

    2009-01-01

    Full Text Available An application of Genetic Programming (an evolutionary computational tool without and with standardization data is presented with the aim of modeling the behavior of the water temperature in a river in terms of meteorological variables that are easily measured, to explore their explanatory power and to emphasize the utility of the standardization of variables in order to reduce the effect of those with large variance. Recorded data corresponding to the water temperature behavior at the Ebro River, Spain, are used as analysis case, showing a performance improvement on the developed model when data are standardized. This improvement is reflected in a reduction of the mean square error. Finally, the models obtained in this document were applied to estimate the water temperature in 2004, in order to provide evidence about their applicability to forecasting purposes.

  18. [Attendance rate in the Polish Cervical Cancer Screening Program in the years 2007-2009].

    Spaczyński, Marek; Karowicz-Bilinska, Agata; Rokita, Wojciech; Molińska-Glura, Marta; Januszek-Michalecka, Lucyna; Seroczyński, Przemysław; Uchlik, Joanna; Nowak-Markwitz, Ewa

    2010-09-01

    In Poland in 2007, according to the National Cancer Registry 3431 women were diagnosed with cervical cancer and 1907 died. To change the unfavorable epidemiologic situation, in 2005 the Ministry of Health (MH), the National Health Fund (NHF) and the Polish Gynecological Society following WHO/IARC guidelines developed a National Population-Based Cervical Cancer Screening Program. Its implementation and roll-out started in 2006. The target population are women aged 25 to 59 insured in the National Health Fund. A Pap test is done with a three-year interval, free of charge. The system is based on personal invitations sent by regular post. Invitation to screening is supported by a social educational campaign "Choose Life" run under one slogan and logo across the whole country The NHF data base enables identification of women to screen. Pap smears are collected by gynecologists and since 2008 also by midwives trained and certified by the Program National Coordinating Center Pap test results are reported in the Bethesda 2001 system. The Screening Program has its system of quality assurance and control and is supported by a specially designed computer data base called SIMP (System of Information Monitoring in Prophylaxis) with online access to all records. In addition to organized, population-based screening there is also opportunistic screening in Poland practiced either by private gynecological practices or by some units that cooperate with the National Health Fund, but do Pap tests as an element of comprehensive gynecological examination. Those smears are not registered in the SIMP. Our aim was analysis of attendance rate in the Cervical Cancer Screening Program in the years 2007-2009. We also investigated correlation between screening coverage and invitation sending schedule, as well as between coverage and screening accessibility determined by the number of gynaecological practices where Pap smears are collected. Attendance rate in the Screening Program was evaluated

  19. Polish universal neonatal hearing screening program-4-year experience (2003-2006).

    Szyfter, Witold; Wróbel, Maciej; Radziszewska-Konopka, Marzanna; Szyfter-Harris, Joanna; Karlik, Michał

    2008-12-01

    The aim of this paper is to share our experience and observations in running the Universal Neonatal Hearing Screening Program on a national level, present results and indicate some problems that have arisen during these 4 years. Polish Universal Neonatal Hearing Screening Program started back in 2002 in all neonatal units in Poland. Implemented testing methods consisted of test of transient evoked otoacoustic emission (TEOAE) performed in all new born children in their first 2-3 days of life and auditory brainstem response testing (ABR) conducted on children, who did not meet the TEOAE pass criteria. Additional questionnaire registered information on ototoxic drugs and family history of hearing impairment in every newborn. Diagnosed children were further referred for treatment and rehabilitation. After 4 years of running the program (between 2003 and 2006) a total number of 1,392,427 children were screened for hearing impairment, what stands for 96.3% of all delivered babies, registered in Poland. The screening program enabled to identify and refer for further treatment 2485 children with various types of hearing loss, 312 with profound (0.02% of population) and 145 with severe sensorineural hearing loss (0.11% of population). Our results indicate the accuracy of newborn hearing screening which remain an issue. Although improvement is needed in both intervention systems and diagnostic follow-up of hospitals, the Polish Universal Neonatal Hearing Program fully has achieved the main goal, the identification and treatment of hearing impaired children.

  20. Overdiagnosis, sojourn time, and sensitivity in the Copenhagen mammography screening program

    Olsen, Anne Helene; Agbaje, Olorunsola F; Myles, Jonathan P

    2006-01-01

    models to the screening data, including preclinical incidence of progressive cancers and nonprogressive (i.e., overdiagnosed) cancers. We estimated mean sojourn time as 2.7 years (95% confidence interval [CI] 2.2-3.1) and screening test sensitivity as 100% (95% CI 99.8-100). Overdiagnosis was estimated...... to be 7.8% (95% CI 0.3-26.5) at the first screen and 0.5% (95% CI 0.02-2.1) at the second screen. This corresponds to 4.8% of all cancers diagnosed among participants during the first two invitation rounds and following intervals. A modest overdiagnosis was estimated for the Copenhagen screening program...

  1. Identification of cell surface targets for HIV-1 therapeutics using genetic screens

    Dunn, Stephen J.; Khan, Imran H.; Chan, Ursula A.; Scearce, Robin L.; Melara, Claudia L.; Paul, Amber M.; Sharma, Vikram; Bih, Fong-Yih; Holzmayer, Tanya A.; Luciw, Paul A.; Abo, Arie

    2004-01-01

    Human immunodeficiency virus (HIV) drugs designed to interfere with obligatory utilization of certain host cell factors by virus are less likely to encounter development of resistant strains than drugs directed against viral components. Several cellular genes required for productive infection by HIV were identified by the use of genetic suppressor element (GSE) technology as potential targets for anti-HIV drug development. Fragmented cDNA libraries from various pools of human peripheral blood mononuclear cells (PBMC) were expressed in vitro in human immunodeficiency virus type 1 (HIV-1)-susceptible cell lines and subjected to genetic screens to identify GSEs that interfered with viral replication. After three rounds of selection, more than 15 000 GSEs were sequenced, and the cognate genes were identified. The GSEs that inhibited the virus were derived from a diverse set of genes including cell surface receptors, cytokines, signaling proteins, transcription factors, as well as genes with unknown function. Approximately 2.5% of the identified genes were previously shown to play a role in the HIV-1 life cycle; this finding supports the biological relevance of the assay. GSEs were derived from the following 12 cell surface proteins: CXCR4, CCR4, CCR7, CD11C, CD44, CD47, CD68, CD69, CD74, CSF3R, GABBR1, and TNFR2. Requirement of some of these genes for viral infection was also investigated by using RNA interference (RNAi) technology; accordingly, 10 genes were implicated in early events of the viral life cycle, before viral DNA synthesis. Thus, these cell surface proteins represent novel targets for the development of therapeutics against HIV-1 infection and AIDS

  2. Contributions and Limitations of National Cervical Cancer Screening Program in Korea: A Retrospective Observational Study

    Jung Hyun Lee, MPH

    2018-03-01

    Full Text Available Summary: Purpose: The purpose of this study was to evaluate the contributions and limitations of the cervical cancer screening test with accuracy in Korea. Methods: This was a retrospective observational study. The study population consisted of all participants who underwent cervical cancer screening test from 2009 to 2014. The data were obtained from National Health Information Database (NHID which represents medical use records of most Koreans. As the indices for contributions and limitations of the screening test, crude detection rate, incidence rate of interval cancer, sensitivity, specificity, and positive predictive value were used. Results: The crude detection rate of screening test per 100,000 participants increased from 100.7 in 2009 to 102.1 in 2014. The incidence rate of interval cancer per 100,000 negatives decreased from 13.0 in 2009 to 10.2 in 2014. The sensitivities of screening test were 88.7% in 2009 and 91.2% in 2014, and the specificities were 98.5% in 2009 and 97.7% in 2014. The positive predictive value of screening decreased from 6.2% in 2009 to 4.3% in 2014. Conclusion: The Korean national cervical cancer screening program has improved in accuracy and has contributed to detection of early stage of cervical cancer over the years. Along with efforts to promote participation in cancer screening programs, quality control over the screening program should be enhanced. Keywords: carcinoma in situ, early detection of cancer, Papanicolaou test, sensitivity and specificity, uterine cervical neoplasms

  3. Simulation of reduced breast cancer mortality in breast cancer screening programs

    Zamora, L. I.; Forastero, C.; Guirado, D.; Lallena, A. M.

    2011-01-01

    The breast cancer screening programs are an essential tool in the fight against breast cancer. Currently, many questions concerning the setup of these programs are open, namely: age range of women who undergo the same, frequency of mammography, ... The effectiveness of a program should be evaluated in terms of mortality reduction is its systematic implementation in the population. In this sense, we performed Monte Carlo simulations to assess that these reductions.

  4. Adherence to Cancer Screening Guidelines and Predictors of Improvement Among Participants in the Kansas State Employee Wellness Program

    Hui, Siu-kuen Azor; Engelman, Kimberly K.; Shireman, Theresa I.; Ellerbeck, Edward F.

    2013-01-01

    Introduction Employee wellness programs (EWPs) have been used to implement worksite-based cancer prevention and control interventions. However, little is known about whether these programs result in improved adherence to cancer screening guidelines or how participants’ characteristics affect subsequent screening. This study was conducted to describe cancer screening behaviors among participants in a state EWP and identify factors associated with screening adherence among those who were initia...

  5. CDC’s Newborn Screening Program - Role of Laboratories

    2013-09-03

    When newborn screening started in the U.S. 50 years ago, many questioned whether it was even possible to test every baby born in every state. Today, all states screen babies for at least 29 disorders that can be detected through laboratory testing. In this podcast, Dr. Carla Cuthbert talks about CDC’s Newborn Screening Quality Assurance Program and the role laboratories play in keeping babies healthy.  Created: 9/3/2013 by National Center for Environmental Health (NCEH).   Date Released: 9/3/2013.

  6. Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing.

    Kauffman, Tia L; Wilfond, Benjamin S; Jarvik, Gail P; Leo, Michael C; Lynch, Frances L; Reiss, Jacob A; Richards, C Sue; McMullen, Carmit; Nickerson, Deborah; Dorschner, Michael O; Goddard, Katrina A B

    2017-02-01

    Population-based carrier screening is limited to well-studied or high-impact genetic conditions for which the benefits may outweigh the associated harms and costs. As the cost of genome sequencing declines and availability increases, the balance of risks and benefits may change for a much larger number of genetic conditions, including medically actionable additional findings. We designed an RCT to evaluate genomic clinical sequencing for women and partners considering a pregnancy. All results are placed into the medical record for use by healthcare providers. Through quantitative and qualitative measures, including baseline and post result disclosure surveys, post result disclosure interviews, 1-2year follow-up interviews, and team journaling, we are obtaining data about the clinical and personal utility of genomic carrier screening in this population. Key outcomes include the number of reportable carrier and additional findings, and the comparative cost, utilization, and psychosocial impacts of usual care vs. genomic carrier screening. As the study progresses, we will compare the costs of genome sequencing and usual care as well as the cost of screening, pattern of use of genetic or mental health counseling services, number of outpatient visits, and total healthcare costs. This project includes novel investigation into human reactions and responses from would-be parents who are learning information that could both affect a future pregnancy and their own health. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  7. Community-Based Multidisciplinary Computed Tomography Screening Program Improves Lung Cancer Survival.

    Miller, Daniel L; Mayfield, William R; Luu, Theresa D; Helms, Gerald A; Muster, Alan R; Beckler, Vickie J; Cann, Aaron

    2016-05-01

    Lung cancer is the most common cause of cancer deaths in the United States. Overall survival is less than 20%, with the majority of patients presenting with advanced disease. The National Lung Screening Trial, performed mainly in academic medical centers, showed that cancer mortality can be reduced with computed tomography (CT) screening compared with chest radiography in high-risk patients. To determine whether this survival advantage can be duplicated in a community-based multidisciplinary thoracic oncology program, we initiated a CT scan screening program for lung cancer within an established health care system. In 2008, we launched a lung cancer CT screening program within the WellStar Health System (WHS) consisting of five hospitals, three health parks, 140 outpatient medical offices, and 12 imaging centers that provide care in a five-county area of approximately 1.4 million people in Metro-Atlanta. Screening criteria incorporated were the International Early Lung Cancer Action Program (2008 to 2010) and National Comprehensive Cancer Network guidelines (2011 to 2013) for moderate- and high-risk patients. A total of 1,267 persons underwent CT lung cancer screening in WHS from 2008 through 2013; 53% were men, 87% were 50 years of age or older, and 83% were current or former smokers. Noncalcified indeterminate pulmonary nodules were found in 518 patients (41%). Thirty-six patients (2.8%) underwent a diagnostic procedure for positive findings on their CT scan; 30 proved to have cancer, 28 (2.2%) primary lung cancer and 2 metastatic cancer, and 6 had benign disease. Fourteen patients (50%) had their lung cancer discovered on their initial CT scan, 11 on subsequent scans associated with indeterminate pulmonary nodules growth and 3 patients who had a new indeterminate pulmonary nodules. Only 15 (54%) of these 28 patients would have qualified as a National Lung Screening Trial high-risk patient; 75% had stage I or II disease. Overall 5-year survival was 64% and 5-year

  8. Economic analysis of the breast cancer screening program used by the UK NHS: should the program be maintained?

    Morton R

    2017-03-01

    Full Text Available Robert Morton,1,2 Meelad Sayma,1,3 Manraj Singh Sura,1,4 1Imperial College Business School, Imperial College London, London, 2Department of Medicine, University of Aberdeen, Aberdeen, 3Knowledge Spa, Peninsula College of Medicine and Dentistry, Truro, 4Department of Medicine, University of Birmingham, Birmingham, UK Introduction: One key tool thought to combat the spiraling costs of late-stage breast cancer diagnosis is the use of breast cancer screening. However, over recent years, more effective treatments and questions being raised over the safety implications of using mammography have led to the cost-effectiveness of breast cancer screening to be highlighted as an important issue to investigate. Methods: A cost–utility analysis was conducted to appraise the breast cancer screening program. The analysis considered the breast cancer screening program and its utility over a 20-year period, accounting for the typical breast cancer screening period taking place between the ages of 50 and 70 years. Analysis was conducted from the perspective of the UK National Health Service (NHS. This accepted NHS threshold was utilized for analysis of £20,000/quality-adjusted life year (QALY–£30,000/QALY gain. A systematic literature review was conducted to obtain relevant financial, health, and probability outcomes pertaining to the breast cancer screening program. Results: The mean incremental cost-effectiveness ratio (ICER calculated was at a value of £11,546.11 with subsequent sensitivity analysis conducted around this value. Three sensitivity analyses were undertaken to evaluate ICERs of a range of scenarios which could occur as the following: 1 maximum costs at each node – £17,254/QALY; 2 all costs are fixed costs: screening center costs, and staff are paid for regardless of use – £14,172/QALY; and 3 combination of (1 and (2 to produce a worst case scenario £20,823/QALY. Discussion and conclusion: The majority of calculations suggested that

  9. Preimplantation genetic screening in older women: a cost-effectiveness analysis.

    Mersereau, Jennifer E; Plunkett, Beth A; Cedars, Marcelle I

    2008-09-01

    To compare the strategy of traditional IVF with prenatal diagnosis versus IVF with preimplantation genetic screening (IVF/PGS) to prevent aneuploid births in women with advanced maternal age. A decision tree analytic model was created to compare IVF alone versus IVF/PGS to evaluate which strategy is the least costly per healthy (euploid) infant. Outpatient IVF practices. Infertile women, 38-40 and >40 years old. IVF or IVF/PGS. Cost per healthy infant. Using base-case estimates of costs and probabilities in women aged 38-40 years, after a maximum of two fresh IVF cycles and two frozen cycles, the chance of having a healthy infant was 37.8% with IVF alone versus 21.7% with IVF/PGS. The average cost for each strategy is $25,700, but the cost per healthy infant is substantially higher when IVF/PGS is applied as opposed to IVF alone ($118,713 vs. $68,026). To assess the robustness of the model, all probabilities were varied simultaneously in a Monte Carlo simulation, and in 96.2% of trials, IVF alone proved to be the most cost-effective option. Conversely, our data demonstrate that in women aged >40, IVF and IVF/PGS are essentially equal in terms of cost-effectiveness ($122,000 vs. $118,713). IVF alone is less costly per healthy infant than IVF/PGS in women ages 38-40.

  10. A Forward Genetic Screen for Molecules Involved in Pheromone-Induced Dauer Formation in Caenorhabditis elegans

    Scott J. Neal

    2016-05-01

    Full Text Available Animals must constantly assess their surroundings and integrate sensory cues to make appropriate behavioral and developmental decisions. Pheromones produced by conspecific individuals provide critical information regarding environmental conditions. Ascaroside pheromone concentration and composition are instructive in the decision of Caenorhabditis elegans to either develop into a reproductive adult or enter into the stress-resistant alternate dauer developmental stage. Pheromones are sensed by a small set of sensory neurons, and integrated with additional environmental cues, to regulate neuroendocrine signaling and dauer formation. To identify molecules required for pheromone-induced dauer formation, we performed an unbiased forward genetic screen and identified phd (pheromone response-defective dauer mutants. Here, we describe new roles in dauer formation for previously identified neuronal molecules such as the WD40 domain protein QUI-1 and MACO-1 Macoilin, report new roles for nociceptive neurons in modulating pheromone-induced dauer formation, and identify tau tubulin kinases as new genes involved in dauer formation. Thus, phd mutants define loci required for the detection, transmission, or integration of pheromone signals in the regulation of dauer formation.

  11. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

    Lynch, HT; Lynch, PM; Lanspa, SJ; Snyder, CL; Lynch, JF; Boland, CR

    2010-01-01

    More than one million patients will manifest colorectal cancer (CRC) this year of which, conservatively, approximately 3% (~30,700 cases) will have Lynch syndrome (LS), the most common hereditary CRC predisposing syndrome. Each case belongs to a family with clinical needs that require genetic counseling, DNA testing for mismatch repair genes (most frequently MLH1 or MSH2) and screening for CRC. Colonoscopy is mandated, given CRC’s proximal occurrence (70–80% proximal to the splenic flexure). Due to its early age of onset (average 45 years of age), colonoscopy needs to start by age 25, and because of its accelerated carcinogenesis, it should be repeated every 1 to 2 years through age 40 and then annually thereafter. Should CRC occur, subtotal colectomy may be necessary, given the marked frequency of synchronous and metachronous CRC. Because 40–60% of female patients will manifest endometrial cancer, tailored management is essential. Additional extracolonic cancers include ovary, stomach, small bowel, pancreas, hepatobiliary tract, upper uroepithelial tract, brain (Turcot variant) and sebaceous adenomas/carcinomas (Muir-Torre variant). LS explains only 10–25% of familial CRC. PMID:19659756

  12. Structural health monitoring feature design by genetic programming

    Harvey, Dustin Y; Todd, Michael D

    2014-01-01

    Structural health monitoring (SHM) systems provide real-time damage and performance information for civil, aerospace, and other high-capital or life-safety critical structures. Conventional data processing involves pre-processing and extraction of low-dimensional features from in situ time series measurements. The features are then input to a statistical pattern recognition algorithm to perform the relevant classification or regression task necessary to facilitate decisions by the SHM system. Traditional design of signal processing and feature extraction algorithms can be an expensive and time-consuming process requiring extensive system knowledge and domain expertise. Genetic programming, a heuristic program search method from evolutionary computation, was recently adapted by the authors to perform automated, data-driven design of signal processing and feature extraction algorithms for statistical pattern recognition applications. The proposed method, called Autofead, is particularly suitable to handle the challenges inherent in algorithm design for SHM problems where the manifestation of damage in structural response measurements is often unclear or unknown. Autofead mines a training database of response measurements to discover information-rich features specific to the problem at hand. This study provides experimental validation on three SHM applications including ultrasonic damage detection, bearing damage classification for rotating machinery, and vibration-based structural health monitoring. Performance comparisons with common feature choices for each problem area are provided demonstrating the versatility of Autofead to produce significant algorithm improvements on a wide range of problems. (paper)

  13. Empirical valence bond models for reactive potential energy surfaces: a parallel multilevel genetic program approach.

    Bellucci, Michael A; Coker, David F

    2011-07-28

    We describe a new method for constructing empirical valence bond potential energy surfaces using a parallel multilevel genetic program (PMLGP). Genetic programs can be used to perform an efficient search through function space and parameter space to find the best functions and sets of parameters that fit energies obtained by ab initio electronic structure calculations. Building on the traditional genetic program approach, the PMLGP utilizes a hierarchy of genetic programming on two different levels. The lower level genetic programs are used to optimize coevolving populations in parallel while the higher level genetic program (HLGP) is used to optimize the genetic operator probabilities of the lower level genetic programs. The HLGP allows the algorithm to dynamically learn the mutation or combination of mutations that most effectively increase the fitness of the populations, causing a significant increase in the algorithm's accuracy and efficiency. The algorithm's accuracy and efficiency is tested against a standard parallel genetic program with a variety of one-dimensional test cases. Subsequently, the PMLGP is utilized to obtain an accurate empirical valence bond model for proton transfer in 3-hydroxy-gamma-pyrone in gas phase and protic solvent. © 2011 American Institute of Physics

  14. 76 FR 72424 - Submission for OMB Review; Comment Request Information Program on the Genetic Testing Registry

    2011-11-23

    ... particular tests; and (3) facilitating genetic and genomic data-sharing for research and new scientific...; Comment Request Information Program on the Genetic Testing Registry AGENCY: National Institutes of Health... currently valid OMB control number. Proposed Collection: Title: The Genetic Testing Registry; Type of...

  15. Measurement and evaluation of digital cervicography programs in two cervical cancer screening camps in East Africa

    Peterson, Curtis W.; Mink, Jonah; Levitz, David

    2017-03-01

    Cervical cancer disproportionately affects women living in low- and middle-income countries. To address this global crisis, many governments and NGOs have implemented community-based screening and treatment programs at outreach camps. Here, high volumes of patients are able to access care: screening and diagnosis followed by immediate treatment of precancerous lesions onsite. However, monitoring and evaluation (M&E) of these efforts presents challenges, since each event typically relies on a different health workforce, and refers patients to different facilities for follow up and advanced care. To address these challenges, a digital imaging intervention was deployed at several screening camps in East Africa. Trained nurses screened women using a connected low-cost mobile colposcope built around a smartphone. A decision support job aid was integrated into the app controlling the device, guiding nurses and recording their diagnosis and treatment decisions. Aggregating the data from the job aid allowed M&E of the screening camp in real-time. In this paper, the M&E data from 2 different screening camps in East Africa are compared. Additionally, screening camps are compared to stationary clinics. Differences in the patient screening times, treatment rates, and individual nurse statistics were all documented through the job aid allowing for much improved epidemiological information following outreach events thus enabling targeted program improvements and provider training. Reporting data from screening camps were also shared online via public web pages, facilitating broader dissemination of health needs in specific East African communities, and sparking conversations with regional stakeholders about local disease burden.

  16. Adherence to Radiology Recommendations in a Clinical CT Lung Screening Program.

    Alshora, Sama; McKee, Brady J; Regis, Shawn M; Borondy Kitts, Andrea K; Bolus, Christopher C; McKee, Andrea B; French, Robert J; Flacke, Sebastian; Wald, Christoph

    2018-02-01

    Assess patient adherence to radiologist recommendations in a clinical CT lung cancer screening program. Patients undergoing CT lung cancer screening between January 12, 2012, and June 12, 2013, were included in this institutional review board-approved retrospective review. Patients referred from outside our institution were excluded. All patients met National Comprehensive Cancer Network Guidelines Lung Cancer Screening high-risk criteria. Full-time program navigators used a CT lung screening program management system to schedule patient appointments, generate patient result notification letters detailing the radiologist follow-up recommendation, and track patient and referring physician notification of missed appointments at 30, 60, and 90 days. To be considered adherent, patients could be no more than 90 days past due for their next recommended examination as of September 12, 2014. Patients who died, were diagnosed with cancer, or otherwise became ineligible for screening were considered adherent. Adherence rates were assessed across multiple variables. During the study interval, 1,162 high-risk patients were screened, and 261 of 1,162 (22.5%) outside referrals were excluded. Of the remaining 901 patients, 503 (55.8%) were male, 414 (45.9%) were active smokers, 377 (41.8%) were aged 65 to 73, and >95% were white. Of the 901 patients, 772 (85.7%) were adherent. Most common reasons for nonadherence were patient refusal of follow-up exam (66.7%), inability to successfully contact the patient (20.9%), and inability to obtain the follow-up order from the referring provider (7.8%); 23 of 901 (2.6%) were discharged for other reasons. High rates of adherence to radiologist recommendations are achievable for in-network patients enrolled in a clinical CT lung screening program. Copyright © 2017 American College of Radiology. Published by Elsevier Inc. All rights reserved.

  17. Factors affecting attendance to cervical cancer screening among women in the Paracentral Region of El Salvador: a nested study within the CAPE HPV screening program.

    Alfaro, Karla M; Gage, Julia C; Rosenbaum, Alan J; Ditzian, Lauren R; Maza, Mauricio; Scarinci, Isabel C; Miranda, Esmeralda; Villalta, Sofia; Felix, Juan C; Castle, Philip E; Cremer, Miriam L

    2015-10-16

    Cervical cancer is the third most commonly occurring cancer among women and the fourth leading cause of cancer-related deaths in women worldwide, with more than 85 % of these cases occurring in developing countries. These global disparities reflect the differences in cervical cancer screening rates between high-income and medium- and low-income countries. At 19 %, El Salvador has the lowest reported screening coverage of all Latin American countries. The purpose of this study is to identify factors affecting public sector HPV DNA-based cervical cancer screening participation in El Salvador. This study was nested within a public sector screening program where health promoters used door-to-door outreach to recruit women aged 30-49 years to attend educational sessions about HPV screening. A subgroup of these participants was chosen randomly and questioned about demographic factors, healthcare utilization, previous cervical cancer screening, and HPV knowledge. Women then scheduled screening appointments at their public health clinics. Screening participants were adherent if they attended their scheduled appointment or rescheduled and were screened within 6 months. The association between non-adherence and demographic variables, medical history, history of cancer, sexual history, birth control methods, and screening barriers was assessed using Chi-square tests of significance and logistic regression. All women (n = 409) enrolled in the study scheduled HPV screening appointments, and 88 % attended. Non-adherence was associated with a higher number of lifetime partners and being under-screened-defined as not having participated in cervical cancer screening within the previous 3 years (p = 0.03 and p = 0.04, respectively); 22.8 % of participants in this study were under-screened. Adherence to cervical cancer screening after educational sessions was higher than expected, in part due to interactions with the community-based health promoters as well as the educational session

  18. Genetic programming over context-free languages with linear constraints for the knapsack problem: first results.

    Bruhn, Peter; Geyer-Schulz, Andreas

    2002-01-01

    In this paper, we introduce genetic programming over context-free languages with linear constraints for combinatorial optimization, apply this method to several variants of the multidimensional knapsack problem, and discuss its performance relative to Michalewicz's genetic algorithm with penalty functions. With respect to Michalewicz's approach, we demonstrate that genetic programming over context-free languages with linear constraints improves convergence. A final result is that genetic programming over context-free languages with linear constraints is ideally suited to modeling complementarities between items in a knapsack problem: The more complementarities in the problem, the stronger the performance in comparison to its competitors.

  19. Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability.

    Tamayo, Marta L; Gelvez, Nancy; Rodriguez, Marcela; Florez, Silvia; Varon, Clara; Medina, David; Bernal, Jaime E

    2008-04-15

    A screening program to detect Waardenburg syndrome (WS) conducted between 2002 and 2005, among 1,763 deaf individuals throughout Columbia identified 95 affected individuals belonging to 95 families, giving a frequency of 5.38% of WS among the institutionalized deaf population. We confirmed the clinical diagnosis of WS in the 95 propositi and, through the family evaluation, we also identified 45 non-institutionalized affected relatives. Audiologic, ophthalmologic, and genetic studies were performed to confirm the diagnosis. Following the classification of the WS consortium, based on the Waardenburg Index (WI), to define the type of WS. We classified 62.1% of the propositi as WS2 and 37.9% as WS1. We present here the results of the study of clinical manifestations, analyzing the presence, severity, and symmetry of clinical findings among this affected population. Overall, among the 95 propositi, in addition to sensorineural deafness in all, the most frequent features were broad nasal root (58.9%), a first degree relative affected (37.9%), heterochromia irides (36.8%), skin hypopigmentation (31.6%), white forelock (28.0%), intense blue iris (27.4%), synophrys (12.6%), premature graying (10.5%), ptosis of the eyelids (9.5%), and hypoplasia alae nasi (1.1%). The majority of individuals had normal psychomotor development (87%), while the remaining 13% had developmental delay. Among the latter, 9.4% corresponded to WS2 and 3.6% to WS1. Our data confirm an interesting inter- and intrafamilial variability in the phenotypic manifestations as well as extremely variable expression. Copyright 2008 Wiley-Liss, Inc.

  20. Awareness of cervical cancer and willingness to participate in screening program: Public health policy implications.

    Patra, Somdatta; Upadhyay, Madhu; Chhabra, Pragti

    2017-01-01

    Cervical cancer is one of the most common malignancies among women in India. There is a high mortality as patients usually present at an advanced stage because of lack of awareness and nonexistent screening programs. This study was planned to find out awareness about cervical cancer among women and their willingness to utilize screening services in an urban resettlement colony of Delhi, India. A community-based, cross-sectional study was carried out in a resettlement colony of North-West Delhi. Semi-structured interview schedule was used to collect information regarding different aspects of cervical cancer. Analysis was done using SPSS package (SPSS version 16 (UCMS and GTBH, Delhi, India)). A total of 373 women were included in the study. Mean age of study participants was 39.14 years. Two-third of the study population were illiterate. Half of the study population was aware of cervical cancer, and only one-fourth of population were willing to participate in a screening test. Willingness was higher among educated, ever user of family planning method and having knowledge about at least one risk factor, signs or symptoms, or possibility of early diagnosis of cancer cervix. The country's national program advocates for opportunistic and targeted screening of women. An understanding of the factors that influences womens' willingness to participate in screening program is essential for the success of such programs. Hence, this study emphasizes the need for dissemination of knowledge about various aspects of cancer cervix which is critical for uptake of any screening program in a developing country.

  1. Radiologic aspects of breast cancers detected through a breast cancer screening program

    Azavedo, E.; Svane, G.

    1991-01-01

    Early detection in breast cancer and reduced mortality in women with this disease is today attributed to widespread use of mammography. High-quality performance is essential in all steps of breast cancer screening programs in order to avoid unnecessary anxiety and surgery in the women concerned. This report presents radiologic aspects of screening cancers. A total of 8370 asymptomatic women aged 50-69 years were screened with 2-view mammography, of which only 70 (0.84 percent) were selected for surgery after a thorough work-up. Cancers were verified histologically in 61 women and 9 showed non-malignant histology, giving a cancer detection rate of 7.3 cancers per thousand screened asymptomatic women. The benign/malignant ratio in the operated cases is thus approximately 1:7. The cancers detected showed all existing types of mammographic features where 77 percent (47 cases) showed rather typical findings, such as spiculated densities both with and without microcalcifications. The results indicate that surgery can be minimized without impairing the breast cancer detection rate. Radiologists in screening programs should be aware that a large proportion of non-palpable breast cancers present in rather unconventional forms. This point is important in order to maintain a high cancer detection rate and thereby justify the widespread use of mammography as a screening tool for breast cancer in asymptomatic women. (author). 20 refs.; 1 tab

  2. [Classification and characteristics of interval cancers in the Principality of Asturias's Breast Cancer Screening Program].

    Prieto García, M A; Delgado Sevillano, R; Baldó Sierra, C; González Díaz, E; López Secades, A; Llavona Amor, J A; Vidal Marín, B

    2013-09-01

    To review and classify the interval cancers found in the Principality of Asturias's Breast Cancer Screening Program (PDPCM). A secondary objective was to determine the histological characteristics, size, and stage of the interval cancers at the time of diagnosis. We included the interval cancers in the PDPCM in the period 2003-2007. Interval cancers were classified according to the breast cancer screening program protocol, with double reading without consensus, without blinding, with arbitration. Mammograms were interpreted by 10 radiologists in the PDPCM. A total of 33.7% of the interval cancers could not be classified; of the interval cancers that could be classified, 40.67% were labeled true interval cancers, 31.4% were labeled false negatives on screening, 23.7% had minimal signs, and 4.23% were considered occult. A total of 70% of the interval cancers were diagnosed in the year of the period between screening examinations and 71.7% were diagnosed after subsequent screening. A total of 76.9% were invasive ductal carcinomas, 61.1% were stage II when detected, and 78.7% were larger than 10mm when detected. The rate of interval cancers and the rate of false negatives in the PDPCM are higher than those recommended in the European guidelines. Interval cancers are diagnosed later than the tumors detected at screening. Studying interval cancers provides significant training for the radiologists in the PDPCM. Copyright © 2011 SERAM. Published by Elsevier Espana. All rights reserved.

  3. [Impact of an informative intervention on the colorectal cancer screening program in primary care professionals].

    Benito-Aracil, Llúcia; Binefa-Rodriguez, Gemma; Milà-Diaz, Núria; Lluch-Canut, M Teresa; Puig-Llobet, Montse; Garcia-Martinez, Montse

    2015-01-01

    To evaluate the impact of an intervention in primary care professionals on their current knowledge about colorectal cancer screening, subsequent surveillance recommendations and referral strategies. Cluster randomized controlled trial. Primary Care Centers in L'Hospitalet de Llobregat (Barcelona). Primary Care Professionals (doctors and nurses). Training session in six of the 12 centers (randomly selected) about the colorrectal cancer screening program, and three emails with key messages. Professionals and centers characteristics and two contextual variables; involvement of professionals in the screening program; information about colorectal cancer knowledge, risk factors, screening procedures, surveillance recommendations and referral strategies. The total score mean on the first questionnaire was 8.07 (1.38) and the second 8.31 (1.39). No statistically significant differences between the intervention and control groups were found, however, in 9 out of 11 questions the percentage of correct responses was increased in the intervention group, mostly related to the surveillance after the diagnostic examination. The intervention improves the percentage of correct answers, especially in those in which worst score obtained in the first questionnaire. This study shows that professionals are familiar with colorectal cancer screening, but there's a need to maintain frequent communication in order to keep up to date the information related to the colorectal cancer screening. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

  4. Development and interlaboratory validation of quantitative polymerase chain reaction method for screening analysis of genetically modified soybeans.

    Takabatake, Reona; Onishi, Mari; Koiwa, Tomohiro; Futo, Satoshi; Minegishi, Yasutaka; Akiyama, Hiroshi; Teshima, Reiko; Kurashima, Takeyo; Mano, Junichi; Furui, Satoshi; Kitta, Kazumi

    2013-01-01

    A novel real-time polymerase chain reaction (PCR)-based quantitative screening method was developed for three genetically modified soybeans: RRS, A2704-12, and MON89788. The 35S promoter (P35S) of cauliflower mosaic virus is introduced into RRS and A2704-12 but not MON89788. We then designed a screening method comprised of the combination of the quantification of P35S and the event-specific quantification of MON89788. The conversion factor (Cf) required to convert the amount of a genetically modified organism (GMO) from a copy number ratio to a weight ratio was determined experimentally. The trueness and precision were evaluated as the bias and reproducibility of relative standard deviation (RSDR), respectively. The determined RSDR values for the method were less than 25% for both targets. We consider that the developed method would be suitable for the simple detection and approximate quantification of GMO.

  5. Australia's National Bowel Cancer Screening Program: does it work for Indigenous Australians?

    Katzenellenbogen Judith M

    2010-06-01

    Full Text Available Abstract Background Despite a lower incidence of bowel cancer overall, Indigenous Australians are more likely to be diagnosed at an advanced stage when prognosis is poor. Bowel cancer screening is an effective means of reducing incidence and mortality from bowel cancer through early identification and prompt treatment. In 2006, Australia began rolling out a population-based National Bowel Cancer Screening Program (NBCSP using the Faecal Occult Blood Test. Initial evaluation of the program revealed substantial disparities in bowel cancer screening uptake with Indigenous Australians significantly less likely to participate in screening than the non-Indigenous population. This paper critically reviews characteristics of the program which may contribute to the discrepancy in screening uptake, and includes an analysis of organisational, structural, and socio-cultural barriers that play a part in the poorer participation of Indigenous and other disadvantaged and minority groups. Methods A search was undertaken of peer-reviewed journal articles, government reports, and other grey literature using electronic databases and citation snowballing. Articles were critically evaluated for relevance to themes that addressed the research questions. Results The NBCSP is not reaching many Indigenous Australians in the target group, with factors contributing to sub-optimal participation including how participants are selected, the way the screening kit is distributed, the nature of the test and comprehensiveness of its contents, cultural perceptions of cancer and prevailing low levels of knowledge and awareness of bowel cancer and the importance of screening. Conclusions Our findings suggest that the population-based approach to implementing bowel cancer screening to the Australian population unintentionally excludes vulnerable minorities, particularly Indigenous and other culturally and linguistically diverse groups. This potentially contributes to exacerbating

  6. An evaluation of a health screening program for migrant women to Taiwan, China

    Yu-Chu Huang

    2016-05-01

    Full Text Available Objective: We aimed to evaluate an integrated screening program for female migrants to Taiwan. Method: We performed a mixed methodological evaluation of a public health nurse (PHN-led intervention to promote an integrated screening program for female migrants to Taiwan. The clinical case yield was determined by an audit, and staff/client questionnaires were used for the evaluation. Screening comprised surveillance for four untreated chronic diseases (hypertension, diabetes mellitus, tuberculosis, and liver disease, four cancers (mouth, bowel, liver, and cervix, parasitic infection, and hyperlipidemia. Results: Three hundred and thirty-six PHNs and 4751 immigrant women – with an average age of 29.2 years, most of whom were from Vietnam (44% or mainland China (41% – took part in the programme. Two thirds of screened women had no abnormalities. Further investigation was required in 1523 women, of whom 1220 were found to have significant disease. The majority of 280 PHNs (85% found the content, processes, and waiting time to be ‘highly acceptable’ and thought the program was worthwhile and could be incorporated into standard care. Conclusions: The Taipei County Comprehensive Health Screening Programme provided an accessible, free-of-charge, and preventative intervention for female migrants to Taiwan and had a good clinical case yield.

  7. Implementing a screening program for acromegaly in Latin America: necessity versus feasibility.

    Danilowicz, Karina; Fainstein Day, Patricia; Manavela, Marcos P; Herrera, Carlos Javier; Deheza, María Laura; Isaac, Gabriel; Juri, Ariel; Katz, Debora; Bruno, Oscar D

    2016-08-01

    Acromegaly is a rare disease with a large burden due its associated comorbidities and the life-long management required. Since the occurrence and severity of associated complications are related to length of exposure to the excess growth hormone seen in acromegaly, early diagnosis is imperative. The delay in diagnosis, however, can be long, and may be the result of a lack of disease awareness and screening programs. Since acromegaly is an uncommon disease, finding ways to increase recognition and diagnosis that would permit early detection in a logical and cost-effective manner could be a challenge. We conducted a retrospective literature review for information relating to the screening and diagnosis of acromegaly using PubMed. The aim was to assess whether an acromegaly-screening program in Latin America (and elsewhere) would be both of use and be feasible. An earlier diagnosis allows earlier initiation of treatment, such as surgery and/or drugs, which leads to more successful disease management (biochemical control) and better outcomes. Since the delay in diagnosis can be long, we believe that clear opportunities exist for earlier (and increased) detection of acromegaly. This can be achieved by increasing disease awareness for earlier recognition of symptoms and by using targeted screening (rather than mass screening) programs.

  8. The cost of screening and brief intervention in employee assistance programs.

    Cowell, Alexander J; Bray, Jeremy W; Hinde, Jesse M

    2012-01-01

    Few studies examine the costs of conducting screening and brief intervention (SBI) in settings outside health care. This study addresses this gap in knowledge by examining the employer-incurred costs of SBI in an employee assistance program (EAP) when delivered by counselors. Screening was self-administered as part of the intake paperwork, and the brief intervention (BI) was delivered during a regular counseling session. Training costs were $83 per counselor. The cost of a screen to the employer was $0.64; most of this cost comprised the cost of the time the client spent completing the screen. The cost of a BI was $2.52. The cost of SBI is lower than cost estimates of SBI conducted in a health care setting. The low costs for the current study suggest that only modest gains in outcomes would likely be needed to justify delivering SBI in an EAP setting.

  9. Developmental stages of developmental screening: steps to implementation of a successful program.

    Pinto-Martin, Jennifer A; Dunkle, Margaret; Earls, Marian; Fliedner, Dane; Landes, Cynthia

    2005-11-01

    Through the use of 2-stage screening strategies, research studies have shown that autism spectrum disorders and other developmental disabilities can now be detected reliably and with greater validity and in children as young as 18 months of age. Screening and diagnostic practices in the medical and educational arena lag far behind clinical research, however, with the average patient age at time of diagnosis being 3 to 6 years.We discuss the challenges of instituting universal developmental screening as part of pediatric care and present 2 models of existing or planned programs of early screening for autism spectrum disorder and developmental disability (1 in a community-based setting and 1 in a pediatric setting), and discuss the pros and cons of the different strategies.

  10. piggyBac transposon somatic mutagenesis with an activated reporter and tracker (PB-SMART for genetic screens in mice.

    Sean F Landrette

    Full Text Available Somatic forward genetic screens have the power to interrogate thousands of genes in a single animal. Retroviral and transposon mutagenesis systems in mice have been designed and deployed in somatic tissues for surveying hematopoietic and solid tumor formation. In the context of cancer, the ability to visually mark mutant cells would present tremendous advantages for identifying tumor formation, monitoring tumor growth over time, and tracking tumor infiltrations and metastases into wild-type tissues. Furthermore, locating mutant clones is a prerequisite for screening and analyzing most other somatic phenotypes. For this purpose, we developed a system using the piggyBac (PB transposon for somatic mutagenesis with an activated reporter and tracker, called PB-SMART. The PB-SMART mouse genetic screening system can simultaneously induce somatic mutations and mark mutated cells using bioluminescence or fluorescence. The marking of mutant cells enable analyses that are not possible with current somatic mutagenesis systems, such as tracking cell proliferation and tumor growth, detecting tumor cell infiltrations, and reporting tissue mutagenesis levels by a simple ex vivo visual readout. We demonstrate that PB-SMART is highly mutagenic, capable of tumor induction with low copy transposons, which facilitates the mapping and identification of causative insertions. We further integrated a conditional transposase with the PB-SMART system, permitting tissue-specific mutagenesis with a single cross to any available Cre line. Targeting the germline, the system could also be used to conduct F1 screens. With these features, PB-SMART provides an integrated platform for individual investigators to harness the power of somatic mutagenesis and phenotypic screens to decipher the genetic basis of mammalian biology and disease.

  11. A Pilot Program Integrating Hepatitis B Virus (HBV) Screening into an Outpatient Endoscopy Unit Improves HBV Screening Among an Ethnically Diverse Safety-Net Hospital.

    Campbell, Brendan; Lopez, Aristeo; Liu, Benny; Bhuket, Taft; Wong, Robert J

    2018-01-01

    Safety-net hospitals are enriched in ethnic minorities and provide opportunities for high-impact hepatitis B virus (HBV) screening. We aim to evaluate the impact of a pilot program integrating HBV screening into outpatient endoscopy among urban safety-net populations. From July 2015 to May 2017, consecutive adults undergoing outpatient endoscopy were prospectively assessed for HBV screening eligibility using US Preventative Services Task Force guidelines. Rates of prior HBV screening were assessed, and those eligible but not screened were offered HBV testing. Multivariate logistic regression models evaluated predictors of test acceptance among eligible patients. Among 1557 patients (47.1% male, 69.4% foreign born), 65.1% were eligible for HBV screening, among which 24.5% received prior screening. In our pilot screening program in the endoscopy unit, 91.4% (n = 855) of eligible patients accepted HBV testing. However, only 55.3% (n = 415) of those that accepted actually completed HBV testing. While there was a trend toward higher rates of test acceptance among African-Americans compared to non-Hispanic whites (OR 3.31, 95% CI 0.96-11.38, p = 0.06), no other sex-specific or race/ethnicity-specific disparities in HBV test acceptance were observed. Among those who completed HBV testing, we identified 10 new patients with chronic HBV (2.4% prevalence). Only 24.5% of eligible patients received prior HBV screening among our cohort. Our pilot program integrating HBV screening into outpatient endoscopy successfully tested an additional 415 patients, improving overall HBV screening from 24.5 to 75.6%. Integrating HBV testing into non-traditional settings has potential to bridge the gap in HBV screening among safety-net systems.

  12. Electrochemical sensor for multiplex screening of genetically modified DNA: identification of biotech crops by logic-based biomolecular analysis.

    Liao, Wei-Ching; Chuang, Min-Chieh; Ho, Ja-An Annie

    2013-12-15

    Genetically modified (GM) technique, one of the modern biomolecular engineering technologies, has been deemed as profitable strategy to fight against global starvation. Yet rapid and reliable analytical method is deficient to evaluate the quality and potential risk of such resulting GM products. We herein present a biomolecular analytical system constructed with distinct biochemical activities to expedite the computational detection of genetically modified organisms (GMOs). The computational mechanism provides an alternative to the complex procedures commonly involved in the screening of GMOs. Given that the bioanalytical system is capable of processing promoter, coding and species genes, affirmative interpretations succeed to identify specified GM event in terms of both electrochemical and optical fashions. The biomolecular computational assay exhibits detection capability of genetically modified DNA below sub-nanomolar level and is found interference-free by abundant coexistence of non-GM DNA. This bioanalytical system, furthermore, sophisticates in array fashion operating multiplex screening against variable GM events. Such a biomolecular computational assay and biosensor holds great promise for rapid, cost-effective, and high-fidelity screening of GMO. Copyright © 2013 Elsevier B.V. All rights reserved.

  13. Enhancing the quality and efficiency of newborn screening programs through the use of health information technology.

    Downing, Gregory J; Zuckerman, Alan E; Coon, Constanze; Lloyd-Puryear, Michele A

    2010-04-01

    A variety of efforts are underway at national, state, regional, and local levels to enhance the performance of programs for early detection of inherited diseases and conditions of newborn infants. Newborn screening programs serve a vital purpose in identifying nonsymptomatic clinical conditions and enabling early intervention strategies that lessen morbidity and mortality. Currently, the programs of most intense focus are early hearing detection and intervention, using physiological techniques for audiology screening and use of newborn dried blood spots for detection of metabolites or proteins representing inherited disorders. One of the primary challenges to effective newborn screening programs to date has been the inability to provide information in a timely and easily accessible way to a variety of users. Other challenging communication issues being faced include the complexity introduced by the diversity of conditions for which testing is conducted and laboratory methods being used by each state's screening programs, lack of an electronic information infrastructure to facilitate information exchange, and variation in policies that enable access to information while protecting patient privacy and confidentiality. In this study, we address steps being taken to understand these challenges, outline progress made to date to overcome them, and provide examples of how electronic health information exchange will enhance the utility of newborn screening. It is likely that future advances in science and technology will bring many more opportunities to prevent and preempt disabilities among children through early detection programs. To take their advantage, effective communication strategies are needed among the public health, primary care practice, referral/specialty service, and consumer advocacy communities to provide continuity of information required for medical decision-making throughout prenatal, newborn, and early childhood periods of patient care. Published by

  14. Balancing the benefits and detriments among women targeted by the Norwegian Breast Cancer Screening Program.

    Hofvind, Solveig; Román, Marta; Sebuødegård, Sofie; Falk, Ragnhild S

    2016-12-01

    To compute a ratio between the estimated numbers of lives saved from breast cancer death and the number of women diagnosed with a breast cancer that never would have been diagnosed during the woman's lifetime had she not attended screening (epidemiologic over-diagnosis) in the Norwegian Breast Cancer Screening Program. The Norwegian Breast Cancer Screening Program invites women aged 50-69 to biennial mammographic screening. Results from published studies using individual level data from the programme for estimating breast cancer mortality and epidemiologic over-diagnosis comprised the basis for the ratio. The mortality reduction varied from 36.8% to 43% among screened women, while estimates on epidemiologic over-diagnosis ranged from 7% to 19.6%. We computed the average estimates for both values. The benefit-detriment ratio, number of lives saved, and number of women over-diagnosed were computed for different scenarios of reduction in breast cancer mortality and epidemiologic over-diagnosis. For every 10,000 biennially screened women, followed until age 79, we estimated that 53-61 (average 57) women were saved from breast cancer death, and 45-126 (average 82) were over-diagnosed. The benefit-detriment ratio using average estimates was 1:1.4, indicating that the programme saved about one life per 1-2 women with epidemiologic over-diagnosis. The benefit-detriment ratio estimates of the Norwegian Breast Cancer Screening Program, expressed as lives saved from breast cancer death and epidemiologic over-diagnosis, should be interpreted with care due to substantial uncertainties in the estimates, and the differences in the scale of values of the events compared. © The Author(s) 2016.

  15. Automated, quantitative cognitive/behavioral screening of mice: for genetics, pharmacology, animal cognition and undergraduate instruction.

    Gallistel, C R; Balci, Fuat; Freestone, David; Kheifets, Aaron; King, Adam

    2014-02-26

    We describe a high-throughput, high-volume, fully automated, live-in 24/7 behavioral testing system for assessing the effects of genetic and pharmacological manipulations on basic mechanisms of cognition and learning in mice. A standard polypropylene mouse housing tub is connected through an acrylic tube to a standard commercial mouse test box. The test box has 3 hoppers, 2 of which are connected to pellet feeders. All are internally illuminable with an LED and monitored for head entries by infrared (IR) beams. Mice live in the environment, which eliminates handling during screening. They obtain their food during two or more daily feeding periods by performing in operant (instrumental) and Pavlovian (classical) protocols, for which we have written protocol-control software and quasi-real-time data analysis and graphing software. The data analysis and graphing routines are written in a MATLAB-based language created to simplify greatly the analysis of large time-stamped behavioral and physiological event records and to preserve a full data trail from raw data through all intermediate analyses to the published graphs and statistics within a single data structure. The data-analysis code harvests the data several times a day and subjects it to statistical and graphical analyses, which are automatically stored in the "cloud" and on in-lab computers. Thus, the progress of individual mice is visualized and quantified daily. The data-analysis code talks to the protocol-control code, permitting the automated advance from protocol to protocol of individual subjects. The behavioral protocols implemented are matching, autoshaping, timed hopper-switching, risk assessment in timed hopper-switching, impulsivity measurement, and the circadian anticipation of food availability. Open-source protocol-control and data-analysis code makes the addition of new protocols simple. Eight test environments fit in a 48 in x 24 in x 78 in cabinet; two such cabinets (16 environments) may be

  16. Southern-by-Sequencing: A Robust Screening Approach for Molecular Characterization of Genetically Modified Crops

    Gina M. Zastrow-Hayes

    2015-03-01

    Full Text Available Molecular characterization of events is an integral part of the advancement process during genetically modified (GM crop product development. Assessment of these events is traditionally accomplished by polymerase chain reaction (PCR and Southern blot analyses. Southern blot analysis can be time-consuming and comparatively expensive and does not provide sequence-level detail. We have developed a sequence-based application, Southern-by-Sequencing (SbS, utilizing sequence capture coupled with next-generation sequencing (NGS technology to replace Southern blot analysis for event selection in a high-throughput molecular characterization environment. SbS is accomplished by hybridizing indexed and pooled whole-genome DNA libraries from GM plants to biotinylated probes designed to target the sequence of transformation plasmids used to generate events within the pool. This sequence capture process enriches the sequence data obtained for targeted regions of interest (transformation plasmid DNA. Taking advantage of the DNA adjacent to the targeted bases (referred to as next-to-target sequence that accompanies the targeted transformation plasmid sequence, the data analysis detects plasmid-to-genome and plasmid-to-plasmid junctions introduced during insertion into the plant genome. Analysis of these junction sequences provides sequence-level information as to the following: the number of insertion loci including detection of unlinked, independently segregating, small DNA fragments; copy number; rearrangements, truncations, or deletions of the intended insertion DNA; and the presence of transformation plasmid backbone sequences. This molecular evidence from SbS analysis is used to characterize and select GM plants meeting optimal molecular characterization criteria. SbS technology has proven to be a robust event screening tool for use in a high-throughput molecular characterization environment.

  17. Swarm, genetic and evolutionary programming algorithms applied to multiuser detection

    Paul Jean Etienne Jeszensky

    2005-02-01

    Full Text Available In this paper, the particles swarm optimization technique, recently published in the literature, and applied to Direct Sequence/Code Division Multiple Access systems (DS/CDMA with multiuser detection (MuD is analyzed, evaluated and compared. The Swarm algorithm efficiency when applied to the DS-CDMA multiuser detection (Swarm-MuD is compared through the tradeoff performance versus computational complexity, being the complexity expressed in terms of the number of necessary operations in order to reach the performance obtained through the optimum detector or the Maximum Likelihood detector (ML. The comparison is accomplished among the genetic algorithm, evolutionary programming with cloning and Swarm algorithm under the same simulation basis. Additionally, it is proposed an heuristics-MuD complexity analysis through the number of computational operations. Finally, an analysis is carried out for the input parameters of the Swarm algorithm in the attempt to find the optimum parameters (or almost-optimum for the algorithm applied to the MuD problem.

  18. Flow discharge prediction in compound channels using linear genetic programming

    Azamathulla, H. Md.; Zahiri, A.

    2012-08-01

    SummaryFlow discharge determination in rivers is one of the key elements in mathematical modelling in the design of river engineering projects. Because of the inundation of floodplains and sudden changes in river geometry, flow resistance equations are not applicable for compound channels. Therefore, many approaches have been developed for modification of flow discharge computations. Most of these methods have satisfactory results only in laboratory flumes. Due to the ability to model complex phenomena, the artificial intelligence methods have recently been employed for wide applications in various fields of water engineering. Linear genetic programming (LGP), a branch of artificial intelligence methods, is able to optimise the model structure and its components and to derive an explicit equation based on the variables of the phenomena. In this paper, a precise dimensionless equation has been derived for prediction of flood discharge using LGP. The proposed model was developed using published data compiled for stage-discharge data sets for 394 laboratories, and field of 30 compound channels. The results indicate that the LGP model has a better performance than the existing models.

  19. Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.

    Tia DiTommaso

    2014-10-01

    Full Text Available The skin is a highly regenerative organ which plays critical roles in protecting the body and sensing its environment. Consequently, morbidity and mortality associated with skin defects represent a significant health issue. To identify genes important in skin development and homeostasis, we have applied a high throughput, multi-parameter phenotype screen to the conditional targeted mutant mice generated by the Wellcome Trust Sanger Institute's Mouse Genetics Project (Sanger-MGP. A total of 562 different mouse lines were subjected to a variety of tests assessing cutaneous expression, macroscopic clinical disease, histological change, hair follicle cycling, and aberrant marker expression. Cutaneous lesions were associated with mutations in 23 different genes. Many of these were not previously associated with skin disease in the organ (Mysm1, Vangl1, Trpc4ap, Nom1, Sparc, Farp2, and Prkab1, while others were ascribed new cutaneous functions on the basis of the screening approach (Krt76, Lrig1, Myo5a, Nsun2, and Nf1. The integration of these skin specific screening protocols into the Sanger-MGP primary phenotyping pipelines marks the largest reported reverse genetic screen undertaken in any organ and defines approaches to maximise the productivity of future projects of this nature, while flagging genes for further characterisation.

  20. [Preference on screening frequency and willingness-to-pay for multiple-cancer packaging screening programs in urban populations in China].

    Zhu, J; Huang, H Y; Mao, A Y; Sun, Z X; Qiu, W Q; Lei, H K; Dong, P; Huang, J W; Bai, Y N; Sun, X J; Liu, G X; Wang, D B; Liao, X Z; Ren, J S; Guo, L W; Lan, L; Zhou, Q; Song, B B; Liu, Y Q; Du, L B; Zhu, L; Cao, R; Wang, J L; Mai, L; Ren, Y; Zhou, J Y; Sun, X H; Wu, S L; Qi, X; Lou, P A; Cai, B; Li, N; Zhang, K; He, J; Dai, M; Shi, J F

    2018-02-10

    Objective: From an actual cancer screening service demanders' perspective, we tried to understand the preference on screening frequency and willingness-to-pay for the packaging screening program on common cancers and to evaluate its long-term sustainability in urban populations in China. Methods: From 2012 to 2014, a multi-center cross-sectional survey was conducted among the actual screening participants from 13 provinces covered by the Cancer Screening Program in Urban China (CanSPUC). By face-to-face interview, information regarding to preference to screening frequency, willingness-to-pay for packaging screening program, maximum amount on payment and related reasons for unwillingness were investigated. Results: A total of 31 029 participants were included in this survey, with an average age as (55.2±7.5) years and median annual income per family as 25 000 Chinese Yuan. People's preference to screening frequency varied under different assumptions ( " totally free" and "self-paid" ). When the packaging screening was assumed totally free, 93.9% of residents would prefer to take the screening program every 1 to 3 years. However, the corresponding proportion dropped to 67.3% when assuming a self-paid pattern. 76.7% of the participants had the willingness-to-pay for the packaging screening, but only 11.2% of them would like to pay more than 500 Chinese Yuan (the expenditure of the particular packaging screening were about 1 500 Chinese Yuan). The remaining 23.3% of residents showed no willingness-to-pay, and the main reasons were unaffordable expenditure (71.7%) and feeling'no need'(40.4%). Conclusions: People who participated in the CanSPUC program generally tended to choose high-frequency packaging screening program, indicating the high potential acceptance for scale-up packaging screening, while it needs cautious assessments and rational guidance to the public. Although about seven in ten of the residents were willing to pay, the payment amount was limited

  1. Cost-effectiveness of screening programs for Chlamydia trachomatis - A population-based dynamic approach

    Welte, R; Kretzschmar, M; Leidl, R; Van den Hoek, A; Jager, JC; Postma, MJ

    2000-01-01

    Background: Models commonly used for the economic assessment of chamydial screening programs do not consider population effects. Goal: To develop a novel dynamic approach for the economic evaluation of chlamydial prevention measures and to determine the cost-effectiveness of a general

  2. Expansion of HIV-1 screening and anti-retroviral treatment programs ...

    Objective: To report the expansion of HIV-1 screening, enrollment in an ART program, and treatment outcomes over twelve months among HIV-positive patients at a nonprofit, non-governmental faith-based clinic providing free and holistic care in Jos City, Plateau State, Nigeria. Design: This was a retrospective analysis of ...

  3. Development of a PCR assay suitable for Campylobacter spp. mass screening programs in broiler production

    Bang, Dang Duong; Pedersen, Karl; Madsen, Mogens

    2001-01-01

    Campylobacter is the most common cause of human acute bacterial gastroenteritis worldwide. In order to comply with the demands of consumers for food free of bacterial pathogens, a mass screening program for Campylobacter in Danish broilers has been carried out based on conventional bacterial...

  4. Nationwide Practices for Screening and Reporting Prenatal Cocaine Abuse: A Survey of Teaching Programs.

    Pelham, Trena L.; DeJong, Allan R.

    1992-01-01

    A survey of 81 pediatric and 81 obstetric training programs from 42 states determined that respondents favored screening pregnant patients for cocaine abuse by maternal history (81 percent) and urine toxicology (36 percent), though many fewer reported these as established policy. Physicians favored such interventions as voluntary drug…

  5. Culturally Competent Training Program: A Key to Training Lay Health Advisors for Promoting Breast Cancer Screening

    Yu, Mei-yu; Song, Lixin; Seetoo, Amy; Cai, Cuijuan; Smith, Gary; Oakley, Deborah

    2007-01-01

    The lay health advisor (LHA) training program for breast cancer screening was conducted among Chinese-English bilingual trainees residing in Southeast Michigan. Guided by Bandura's Social Learning Theory, the development of the training curriculum followed the health communication process recommended by the National Cancer Institute. Data analysis…

  6. Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.

    Wilson, R Douglas; De Bie, Isabelle; Armour, Christine M; Brown, Richard N; Campagnolo, Carla; Carroll, June C; Okun, Nan; Nelson, Tanya; Zwingerman, Rhonda; Audibert, Francois; Brock, Jo-Ann; Brown, Richard N; Campagnolo, Carla; Carroll, June C; De Bie, Isabelle; Johnson, Jo-Ann; Okun, Nan; Pastruck, Melanie; Vallée-Pouliot, Karine; Wilson, R Douglas; Zwingerman, Rhonda; Armour, Christine; Chitayat, David; De Bie, Isabelle; Fernandez, Sara; Kim, Raymond; Lavoie, Josee; Leonard, Norma; Nelson, Tanya; Taylor, Sherry; Van Allen, Margot; Van Karnebeek, Clara

    2016-08-01

    the most responsible maternity provider through the informed consent process with the patient. (III-A; GRADE low/moderate) SOGC OVERVIEW OF RECOMMENDATIONS QUALITY AND GRADE: There was a strong observational/expert opinion (quality and grade) for the genetic carrier literature with randomized controlled trial evidence being available only for the invasive testing. Both the Canadian Task Force on Preventive Health Care quality and classification and the GRADE evidence quality and grade are provided. MEDLINE; PubMed; government neonatal screening websites; key words/common reproductive genetic carrier screened diseases/previous SOGC Guidelines/medical academic societies (Society of Maternal-Fetal Medicine [SMFM]; American College of Medical Genetics and Genomics; American College of Obstetricians and Gynecologists [ACOG]; CCMG; Royal College Obstetrics and Gynaecology [RCOG] [UK]; American Society of Human Genetics [ASHG]; International Society of Prenatal Diagnosis [ISPD])/provincial neonatal screening policies and programs; search terms (carrier screening, prenatal screening, neonatal genetic/metabolic screening, cystic fibrosis (CF), thalassemia, hemoglobinopathy, hemophilia, Fragile X syndrome (FXS), spinal muscular atrophy, Ashkenazi Jewish carrier screening, genetic carrier screening protocols, AR, AD, XL). 10 years (June 2005-September 2015); initial search dates June 30, 2015 and September 15, 2015; completed final search January 4, 2016. Validation of articles was completed by primary authors RD Wilson and I De Bie. Benefits are to provide an evidenced based reproductive genetic carrier screening update consensus based on international opinions and publications for the use of Canadian women, who are planning a pregnancy or who are pregnant and have been identified to be at risk (personal or male partner family or reproductive history) for the transmission of a clinically significant genetic condition to their offspring with associated morbidity and

  7. Introduction of the colorectal cancer screening program: results from a single centre study.

    Vermeer, Nina C A; Bahadoer, Renu R; Bastiaannet, Esther; Holman, Fabian A; Meershoek-Klein Kranenbarg, Elma; Liefers, Gerrit-Jan; van de Velde, Cornelis J H; Peeters, Koen C M J

    2018-06-19

    In 2014, a national colorectal cancer (CRC) screening program was launched in the Netherlands. It is difficult to assess for the individual CRC patient whether the oncological benefits of surgery will outweigh the morbidity of the procedure, especially in early lesions. This study compares patient and tumour characteristics between screen-detected and non-screen-detected patients. Secondly, we present an overview of treatment options and clinical dilemmas when treating patients with early stage colorectal disease. Between January 2014 and December 2016, all patients with non-malignant polyps or CRC who were referred to the Department of Surgery of the Leiden University Medical Centre in the Netherlands were included. Baseline characteristics, type of treatment and short-term outcomes of patients with screen-detected and non-screen-detected colorectal tumours were compared. A total of 426 patients were included, of whom 240 (56.3%) were identified by screening. Non-screen-detected patients more often had comorbidity (p=0.03), the primary tumour was more often located in the rectum (p=0.001) and there was a higher rate of metastatic disease (p<0.001). Among 354 surgically treated patients, postoperative adverse events did not significantly differ between the two groups (p=0.38). Of 46 patients with T1 CRC in the endoscopic resection specimen, 23 underwent surgical resection of which only 30.4% had residual invasive disease at colectomy. Despite differences in comorbidity and stage, surgical outcome of patients with screen-detected tumours compared to non-screen-detected tumours was not significantly different. Considering its limited oncological benefits as well as the rate of adverse events, surgery for non-malignant polyps and T1 CRC should be considered carefully. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  8. Population genetics analysis using R and the Geneland program

    Guillot, Gilles; Santos, Filipe; Estoup, Arnaud

    2011-01-01

    Geneland program documentation 2011 Program distributed under GNU license as an R package on the Comprehensive R Archive Network.......Geneland program documentation 2011 Program distributed under GNU license as an R package on the Comprehensive R Archive Network....

  9. The Cost-Effectiveness of High-Risk Lung Cancer Screening and Drivers of Program Efficiency.

    Cressman, Sonya; Peacock, Stuart J; Tammemägi, Martin C; Evans, William K; Leighl, Natasha B; Goffin, John R; Tremblay, Alain; Liu, Geoffrey; Manos, Daria; MacEachern, Paul; Bhatia, Rick; Puksa, Serge; Nicholas, Garth; McWilliams, Annette; Mayo, John R; Yee, John; English, John C; Pataky, Reka; McPherson, Emily; Atkar-Khattra, Sukhinder; Johnston, Michael R; Schmidt, Heidi; Shepherd, Frances A; Soghrati, Kam; Amjadi, Kayvan; Burrowes, Paul; Couture, Christian; Sekhon, Harmanjatinder S; Yasufuku, Kazuhiro; Goss, Glenwood; Ionescu, Diana N; Hwang, David M; Martel, Simon; Sin, Don D; Tan, Wan C; Urbanski, Stefan; Xu, Zhaolin; Tsao, Ming-Sound; Lam, Stephen

    2017-08-01

    Lung cancer risk prediction models have the potential to make programs more affordable; however, the economic evidence is limited. Participants in the National Lung Cancer Screening Trial (NLST) were retrospectively identified with the risk prediction tool developed from the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial. The high-risk subgroup was assessed for lung cancer incidence and demographic characteristics compared with those in the low-risk subgroup and the Pan-Canadian Early Detection of Lung Cancer Study (PanCan), which is an observational study that was high-risk-selected in Canada. A comparison of high-risk screening versus standard care was made with a decision-analytic model using data from the NLST with Canadian cost data from screening and treatment in the PanCan study. Probabilistic and deterministic sensitivity analyses were undertaken to assess uncertainty and identify drivers of program efficiency. Use of the risk prediction tool developed from the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial with a threshold set at 2% over 6 years would have reduced the number of individuals who needed to be screened in the NLST by 81%. High-risk screening participants in the NLST had more adverse demographic characteristics than their counterparts in the PanCan study. High-risk screening would cost $20,724 (in 2015 Canadian dollars) per quality-adjusted life-year gained and would be considered cost-effective at a willingness-to-pay threshold of $100,000 in Canadian dollars per quality-adjusted life-year gained with a probability of 0.62. Cost-effectiveness was driven primarily by non-lung cancer outcomes. Higher noncurative drug costs or current costs for immunotherapy and targeted therapies in the United States would render lung cancer screening a cost-saving intervention. Non-lung cancer outcomes drive screening efficiency in diverse, tobacco-exposed populations. Use of risk selection can reduce the budget impact, and

  10. Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening

    Lund, Allan Meldgaard; Hougaard, David Michael; Simonsen, Henrik

    2012-01-01

    Expanded newborn screening for selected inborn errors of metabolism (IEM) in Denmark, the Faroe Islands and Greenland was introduced in 2002. We now present clinical, biochemical, and statistical results of expanded screening (excluding PKU) of 504,049 newborns during nine years as well as diagno......Expanded newborn screening for selected inborn errors of metabolism (IEM) in Denmark, the Faroe Islands and Greenland was introduced in 2002. We now present clinical, biochemical, and statistical results of expanded screening (excluding PKU) of 504,049 newborns during nine years as well...... as a pilot study during the first seven years, and the experience obtained during these years was used in the development of the routine neonatal screening program introduced in 2009. Methods for screening included tandem mass spectrometry and an assay for determination of biotinidase activity. A total...

  11. Universal neonatal hearing screening program in Shanghai, China: An inter-regional and international comparison.

    Fang, Xingang; Li, Xi; Zhang, Qi; Wan, Jin; Sun, Mei; Chang, Fengshui; Lü, Jun; Chen, Gang

    2016-11-01

    By comparing the Universal Neonatal Hearing Screening (UNHS) program as implemented in Shanghai and other regions in China and countries around the world, this study makes an assessment of the Shanghai model and summarizes the experiences implementing the UNHS program, so as to provide a valuable reference for other countries or regions to carry out UNHS more effectively. Since Shanghai is one of the most developed regions in China, we also examined the relationship between economic development and the UNHS starting year and coverage rate. The study conducted a systematic review of published studies in Chinese and English on the program status of neonatal hearing screening to compare and analyze the implementation of the UNHS program in 20 cities or provinces in China and 24 regions or countries around the world. The literature search in Chinese was conducted in the three most authoritative publication databases, CNKI (China National Knowledge Infrastructure), WANFANGDATA, and CQVIP (http://www.cqvip.com/). We searched all publications in those databases with the keywords "neonatal hearing screening" (in Chinese) between 2005 and 2014. English literature was searched using the same keywords (in English). The publication database included Medline and Web of Science, and the search time period was 2000-2014. Shanghai was one of the first regions in China to implement UNHS, and its coverage rate was among the top regions by international comparison. The starting time of the UNHS program had no relationship with the Gross Domestic Product (GDP) per capita in the same year. Economic level serves as a threshold for carrying out UNHS but is not a linear contributor to the exact starting time of such a program. The screening coverage rate generally showed a rising trend with the increasing GDP per capita in China, but it had no relationship with the area's GDP per capita in selected regions and countries around the world. The system design of UNHS is the key factor

  12. Parental psychological distress and anxiety after a successful IVF/ICSI procedure with and without preimplantation genetic screening : Follow-up of a randomised controlled trial

    Beukers, F.; Houtzager, B. A.; Paap, M C S; Middelburg, K J; Hadders-Algra, M; Bos, A.F.; Kok, J.H.

    Background: Infertility treatment has an acknowledged psychological impact on women and their partners; however, information about the development of parental well-being after child birth is inconclusive. Preimplantation genetic screening (PGS) has been suggested to increase the efficacy of

  13. Parental psychological distress and anxiety after a successful IVF/ICSI procedure with and without preimplantation genetic screening: Follow-up of a randomised controlled trial

    Beukers, F.; Houtzager, B. A.; Paap, M. C. S.; Middelburg, K. J.; Hadders-Algra, M.; Bos, A. F.; Kok, J. H.; Cobben, Jan Maarten; van der Heide, Maaike; Koomen, Alice; Repping, Sjoerd; Silberbusch, Lobke; Twisk, Moniek; Mastenbroek, Sebastiaan; van der Veen, Fulco; Bos, Arend F.; Haadsma, Maaike; Hadders-Algra, Mijna; Heineman, Maas Jan; van Hoften, Jacorina; Jongbloed-Pereboom, Marjolein; Keating, Paul; Seggers, Jorien

    2012-01-01

    Background: Infertility treatment has an acknowledged psychological impact on women and their partners; however, information about the development of parental well-being after child birth is inconclusive. Preimplantation genetic screening (PGS) has been suggested to increase the efficacy of

  14. Parental psychological distress and anxiety after a successful IVF/ICSI procedure with and without Preimplantation Genetic Screening. Follow-up of a randomised controlled trail

    Beukers, F.; Houtzager, B.A.; Paap, Muirne; Middelburg, K.; Hadders-Algra, M.; Bos, A.F.; Kok, J.H.

    2012-01-01

    Background Infertility treatment has an acknowledged psychological impact on women and their partners; however, information about the development of parental well-being after child birth is inconclusive. Preimplantation genetic screening (PGS) has been suggested to increase the efficacy of

  15. Blood pressure and anthropometrics of 4-y-old children born after preimplantation genetic screening: follow-up of a unique, moderately sized, randomized controlled trial

    Seggers, Jorien; Haadsma, Maaike L.; Bastide-van Gemert, Sacha la; Heineman, Maas Jan; Kok, Joke H.; Middelburg, Karin J.; Roseboom, Tessa J.; Schendelaar, Pamela; van den Heuvel, Edwin R.; Hadders-Algra, Mijna

    2013-01-01

    Recent studies suggest that in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are associated with suboptimal cardiometabolic outcome in offspring. It is unknown whether preimplantation genetic screening (PGS), which involves embryo biopsy, affects blood pressure (BP),

  16. Blood pressure and anthropometrics of 4-y-old children born after preimplantation genetic screening : follow-up of a unique, moderately sized, randomized controlled trial

    Seggers, Jorien; Haadsma, Maaike L.; la Bastide-van Gemert, Sacha; Heineman, Maas Jan; Kok, Joke H.; Middelburg, Karin J.; Roseboom, Tessa J.; Schendelaar, Pamela; Van den Heuvel, Edwin R.; Hadders-Algra, Mijna

    2013-01-01

    BACKGROUND: Recent studies suggest that in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are associated with suboptimal cardiometabolic outcome in offspring. It is unknown whether preimplantation genetic screening (PGS), which involves embryo biopsy, affects blood pressure

  17. Parent-Child Relationships: Implementation of a Screening and Referral Program for Adolescents With Mood Disorders.

    Okeoma, Bryson C

    2017-11-01

    Parent-child relational problems (PCRP) have been increasingly recognized as a risk factor in the development and/or progression of childhood mental illnesses. Despite many young individuals being at risk, health care providers do not specifically screen for PCRP in children diagnosed with mental illnesses. The objective of the current project was to implement a PCRP screening program in a metropolitan children's hospital and refer those with PCRP for treatment. Adolescents ages 10 to 17 presenting for admission in an inpatient pediatric psychiatric unit were screened with the PCRP semi-structured questionnaire and diagnostic criteria developed by the American Psychiatric Association's Relational Processes Workgroup. Eleven (73%) of 15 patients screened were found to have PCRP. Patients may be screened with a PCRP screening tool during biopsychosocial assessment without undue time burden on the provider. It is recommended that PCRP be added to electronic health records so providers can select PCRP in problem lists as well as formulate PCRP-sensitive care plans. [Journal of Psychosocial Nursing and Mental Health Services, 55(11), 23-29.]. Copyright 2017, SLACK Incorporated.

  18. Quality control for the mammography screening program in Serbia: Physical and technical aspects

    Ciraj-Bjelac, O.; Bozovic, P.; Lazarevic, D.; Arandjic, D.; Kosutic, D.

    2012-01-01

    Breast cancer is the major cause of mortality among female population in Serbia. It is presumed that the introduction of screening programme will reduce mortality and therefore, 47 new mammography units were installed for the purpose of population-based screening program in 2011. In parallel, Quality assurance and Quality control (QC) in mammography has received increasing attention as an essential element of the successful breast cancer campaign that is for the first time initialed in Serbia. The purpose of this study is to investigate the need for and the possible implementation of the comprehensive QC programme for the mammography screening in Serbia, with special focus on physical and technical aspect. In the first phase, a QC protocols containing list of parameters, methodology, frequency of tests and reference values for screen-film, computed radiography and full-filed digital mammography) units, were developed. The second phase is focused on the initial implementation of these protocols. The paper presents results of tests of the selected parameters in 35 mammography units, with special emphasis on patient dose and image quality descriptors. After initial implementation at the beginning of the population based breast cancer screening campaign, it is essential to establish system of regular and periodic QC equipment monitoring and to ensure high quality mammograms with minimal possible radiation dose to population included in the screening. (authors)

  19. The Yo me cuido® Program: Addressing Breast Cancer Screening and Prevention Among Hispanic Women.

    Davis, Jenna L; Ramos, Roberto; Rivera-Colón, Venessa; Escobar, Myriam; Palencia, Jeannette; Grant, Cathy G; Green, B Lee

    2015-09-01

    Breast cancer is less likely to be diagnosed at the earliest stage in Hispanic/Latino (Hispanic) women compared to non-Hispanic White women, even after accounting for differences in age, socioeconomic status, and method of detection. Moffitt Cancer Center created a comprehensive health education program called Yo me cuido (®) (YMC) to address and reduce breast cancer disparities among Spanish- and English-speaking Hispanic women by providing breast cancer and healthy lifestyles awareness and education, and promoting breast cancer screenings, reminders, and referrals for women 40 years and older. The purpose of this paper is to showcase the innovative approaches and methods to cancer prevention and early detection of the YMC program, and to promote it as an effective tool for improving outcomes in community health education, outreach, and engagement activities with Hispanic populations. Key components of the program include educational workshops, mammogram referrals, and a multimedia campaign. The YMC program is unique because of its approaches in reaching the Hispanic population, such as delivering the program with compassionate services to empower participants to live a healthier lifestyle. Additionally, direct follow-up for mammography screenings is provided by program staff. From 2011 to 2013, YMC has educated 2,226 women and 165 men through 93 workshops. About 684 (52 %) women ages 40 and older have had a screening mammogram within their first year of participating in the program. The YMC program is an innovative cancer education and outreach program that has demonstrated a positive impact on the lives of the Hispanic community in the Tampa Bay region.

  20. Assessing the Effectiveness of Functional Genetic Screens for the Identification of Bioactive Metabolites

    Staffan Kjelleberg

    2012-12-01

    Full Text Available A common limitation for the identification of novel activities from functional (meta genomic screens is the low number of active clones detected relative to the number of clones screened. Here we demonstrate that constructing libraries with strains known to produce bioactives can greatly enhance the screening efficiency, by increasing the “hit-rate” and unmasking multiple activities from the same bacterial source.

  1. Laboratory audit as part of the quality assessment of a primary HPV-screening program.

    Hortlund, Maria; Sundström, Karin; Lamin, Helena; Hjerpe, Anders; Dillner, Joakim

    2016-02-01

    As primary HPV screening programs are rolled out, methods are needed for routine quality assurance of HPV laboratory analyzes. To explore the use of similar design for audit as currently used in cytology-based screening, to estimate the clinical sensitivity to identify women at risk for CIN 3 or worse (CIN3+). Population-based cohort study conducted within the cervical screening program in Stockholm, Sweden, in 2011-2012. All women with histopathologically confirmed CIN3+ in the following two years were identified by registry analysis. Primary HPV and cytology screening results were collected. For women who had not been HPV tested, biobanked cytology samples were HPV-tested. If the original HPV result had been negative, the sample and subsequent biopsies were analyzed with broad HPV typing (general primer PCR and Luminex). 154 women had a biobanked prediagnostic cytology sample taken up to 2 years before a histopathologically confirmed CIN3+. The high-risk HPV-positivity was 97% (148/154 women), whereas 143/154 (94%) women had had a cytological abnormality. Among the six HPV-negative samples, one sample was HPV 33 positive in repeat testing whereas the other five cases were HPV-negative also on repeat testing, but HPV-positive in the subsequent tumor tissue. A sensitivity of the HPV test that is higher than the sensitivity of cytology suggests adequate quality of the testing. Regular audits of clinical sensitivity, similar to those of cytology-based screening, should be used also in HPV-based screening programs, in order to continuously monitor the performance of the analyzes. Copyright © 2015 Elsevier B.V. All rights reserved.

  2. A comparative examination of tuberculosis immigration medical screening programs from selected countries with high immigration and low tuberculosis incidence rates

    2011-01-01

    Background Tuberculosis (TB) in migrants is an ongoing challenge in several low TB incidence countries since a large proportion of TB in these countries occurs in migrants from high incidence countries. To meet these challenges, several countries utilize TB screening programs. The programs attempt to identify and treat those with active and/or infectious stages of the disease. In addition, screening is used to identify and manage those with latent or inactive disease after arrival. Between nations, considerable variation exists in the methods used in migration-associated TB screening. The present study aimed to compare the TB immigration medical examination requirements in selected countries of high immigration and low TB incidence rates. Methods Descriptive study of immigration TB screening programs Results 16 out of 18 eligible countries responded to the written standardized survey and phone interview. Comparisons in specific areas of TB immigration screening programs included authorities responsible for TB screening, the primary objectives of the TB screening program, the yield of detection of active TB disease, screening details and aspects of follow up for inactive pulmonary TB. No two countries had the same approach to TB screening among migrants. Important differences, common practices, common problems, evidence or lack of evidence for program specifics were noted. Conclusions In spite of common goals, there is great diversity in the processes and practices designed to mitigate the impact of migration-associated TB among nations that screen migrants for the disease. The long-term goal in decreasing migration-related introduction of TB from high to low incidence countries remains diminishing the prevalence of the disease in those high incidence locations. In the meantime, existing or planned migration screening programs for TB can be made more efficient and evidenced based. Cooperation among countries doing research in the areas outlined in this study should

  3. How to Improve the Quality of Screening Endoscopy in Korea: National Endoscopy Quality Improvement Program.

    Cho, Yu Kyung

    2016-07-01

    In Korea, gastric cancer screening, either esophagogastroduodenoscopy or upper gastrointestinal series (UGIS), is performed biennially for adults aged 40 years or older. Screening endoscopy has been shown to be associated with localized cancer detection and better than UGIS. However, the diagnostic sensitivity of detecting cancer is not satisfactory. The National Endoscopy Quality Improvement (QI) program was initiated in 2009 to enhance the quality of medical institutions and improve the effectiveness of the National Cancer Screening Program (NCSP). The Korean Society of Gastrointestinal Endoscopy developed quality standards through a broad systematic review of other endoscopic quality guidelines and discussions with experts. The standards comprise five domains: qualifications of endoscopists, endoscopic unit facilities and equipment, endoscopic procedure, endoscopy outcomes, and endoscopic reprocessing. After 5 years of the QI program, feedback surveys showed that the perception of QI and endoscopic practice improved substantially in all domains of quality, but the quality standards need to be revised. How to avoid missing cancer in endoscopic procedures in daily practice was reviewed, which can be applied to the mass screening endoscopy. To improve the quality and effectiveness of NCSP, key performance indicators, acceptable quality standards, regular audit, and appropriate reimbursement are necessary.

  4. A genetic programming approach to oral cancer prognosis

    Mei Sze Tan

    2016-09-01

    Full Text Available Background The potential of genetic programming (GP on various fields has been attained in recent years. In bio-medical field, many researches in GP are focused on the recognition of cancerous cells and also on gene expression profiling data. In this research, the aim is to study the performance of GP on the survival prediction of a small sample size of oral cancer prognosis dataset, which is the first study in the field of oral cancer prognosis. Method GP is applied on an oral cancer dataset that contains 31 cases collected from the Malaysia Oral Cancer Database and Tissue Bank System (MOCDTBS. The feature subsets that is automatically selected through GP were noted and the influences of this subset on the results of GP were recorded. In addition, a comparison between the GP performance and that of the Support Vector Machine (SVM and logistic regression (LR are also done in order to verify the predictive capabilities of the GP. Result The result shows that GP performed the best (average accuracy of 83.87% and average AUROC of 0.8341 when the features selected are smoking, drinking, chewing, histological differentiation of SCC, and oncogene p63. In addition, based on the comparison results, we found that the GP outperformed the SVM and LR in oral cancer prognosis. Discussion Some of the features in the dataset are found to be statistically co-related. This is because the accuracy of the GP prediction drops when one of the feature in the best feature subset is excluded. Thus, GP provides an automatic feature selection function, which chooses features that are highly correlated to the prognosis of oral cancer. This makes GP an ideal prediction model for cancer clinical and genomic data that can be used to aid physicians in their decision making stage of diagnosis or prognosis.

  5. A genetic programming approach to oral cancer prognosis.

    Tan, Mei Sze; Tan, Jing Wei; Chang, Siow-Wee; Yap, Hwa Jen; Abdul Kareem, Sameem; Zain, Rosnah Binti

    2016-01-01

    The potential of genetic programming (GP) on various fields has been attained in recent years. In bio-medical field, many researches in GP are focused on the recognition of cancerous cells and also on gene expression profiling data. In this research, the aim is to study the performance of GP on the survival prediction of a small sample size of oral cancer prognosis dataset, which is the first study in the field of oral cancer prognosis. GP is applied on an oral cancer dataset that contains 31 cases collected from the Malaysia Oral Cancer Database and Tissue Bank System (MOCDTBS). The feature subsets that is automatically selected through GP were noted and the influences of this subset on the results of GP were recorded. In addition, a comparison between the GP performance and that of the Support Vector Machine (SVM) and logistic regression (LR) are also done in order to verify the predictive capabilities of the GP. The result shows that GP performed the best (average accuracy of 83.87% and average AUROC of 0.8341) when the features selected are smoking, drinking, chewing, histological differentiation of SCC, and oncogene p63. In addition, based on the comparison results, we found that the GP outperformed the SVM and LR in oral cancer prognosis. Some of the features in the dataset are found to be statistically co-related. This is because the accuracy of the GP prediction drops when one of the feature in the best feature subset is excluded. Thus, GP provides an automatic feature selection function, which chooses features that are highly correlated to the prognosis of oral cancer. This makes GP an ideal prediction model for cancer clinical and genomic data that can be used to aid physicians in their decision making stage of diagnosis or prognosis.

  6. A genetic programming approach for Burkholderia Pseudomallei diagnostic pattern discovery

    Yang, Zheng Rong; Lertmemongkolchai, Ganjana; Tan, Gladys; Felgner, Philip L.; Titball, Richard

    2009-01-01

    Motivation: Finding diagnostic patterns for fighting diseases like Burkholderia pseudomallei using biomarkers involves two key issues. First, exhausting all subsets of testable biomarkers (antigens in this context) to find a best one is computationally infeasible. Therefore, a proper optimization approach like evolutionary computation should be investigated. Second, a properly selected function of the antigens as the diagnostic pattern which is commonly unknown is a key to the diagnostic accuracy and the diagnostic effectiveness in clinical use. Results: A conversion function is proposed to convert serum tests of antigens on patients to binary values based on which Boolean functions as the diagnostic patterns are developed. A genetic programming approach is designed for optimizing the diagnostic patterns in terms of their accuracy and effectiveness. During optimization, it is aimed to maximize the coverage (the rate of positive response to antigens) in the infected patients and minimize the coverage in the non-infected patients while maintaining the fewest number of testable antigens used in the Boolean functions as possible. The final coverage in the infected patients is 96.55% using 17 of 215 (7.4%) antigens with zero coverage in the non-infected patients. Among these 17 antigens, BPSL2697 is the most frequently selected one for the diagnosis of Burkholderia Pseudomallei. The approach has been evaluated using both the cross-validation and the Jack–knife simulation methods with the prediction accuracy as 93% and 92%, respectively. A novel approach is also proposed in this study to evaluate a model with binary data using ROC analysis. Contact: z.r.yang@ex.ac.uk PMID:19561021

  7. CDPOP: A spatially explicit cost distance population genetics program

    Erin L. Landguth; S. A. Cushman

    2010-01-01

    Spatially explicit simulation of gene flow in complex landscapes is essential to explain observed population responses and provide a foundation for landscape genetics. To address this need, we wrote a spatially explicit, individual-based population genetics model (CDPOP). The model implements individual-based population modelling with Mendelian inheritance and k-allele...

  8. Genetic diversity of Colletotrichum gloeosporioides in Nigeria using ...

    fmodupe

    2012-04-24

    Apr 24, 2012 ... gloeosporioides isolates and was effective in establishing genetic relationships ... Key words: Anthracnose disease, pathotypes, genetic diversity, amplified ..... isolates to use in an anthracnose resistance screening program.

  9. Analysis of genetic diversity and construction of core collection of ...

    Jane

    2011-06-03

    Jun 3, 2011 ... Genetic diversity of 73 local mulberry varieties from Shanxi Province were screened using ISSR ... number effective of alleles, Nei's genetic diversity index and Shannon's ...... resources conservation program of the Agriculture.

  10. Screening for thalassemia and other hemoglobinopathies in a tertiary care hospital of West Bengal: Implications for population screening

    Bhawna Bhutoria Jain; Rabindra Nath Roy; Sulekha Ghosh; Tapan Ghosh; Uma Banerjee; Subodh Kumar Bhattacharya

    2012-01-01

    Hemoglobinopathies are common genetic disorders of hemoglobin, which can be prevented by population screening and offering genetic counseling. In absence of population-based screening for hemoglobinopathies, the hospital-based diagnosis register provide idea about the extent of problem in the community. The present study was undertaken to find out the burden of hemoglobinopathies and spectrum of this disorders among the population who were screened in the hospital-based screening program. A r...

  11. Amount of Genetics Education is Low Among Didactic Programs in Dietetics.

    Beretich, Kaitlan; Pope, Janet; Erickson, Dawn; Kennedy, Angela

    2017-01-01

    Nutritional genomics is a growing area of research. Research has shown registered dietitian nutritionists (RDNs) have limited knowledge of genetics. Limited research is available regarding how didactic programs in dietetics (DPDs) meet the genetics knowledge requirement of the Accreditation Council for Education in Nutrition and Dietetics (ACEND®). The purpose of this study was to determine the extent to which the study of nutritional genomics is incorporated into undergraduate DPDs in response to the Academy of Nutrition and Dietetics position statement on nutritional genomics. The sample included 62 DPD directors in the U.S. Most programs (63.9%) reported the ACEND genetics knowledge requirement was being met by integrating genetic information into the current curriculum. However, 88.7% of programs reported devoting only 1-10 clock hours to genetics education. While 60.3% of directors surveyed reported they were confident in their program's ability to teach information related to genetics, only 6 directors reported having specialized training in genetics. The overall amount of clock hours devoted to genetics education is low. DPD directors, faculty, and instructors are not adequately trained to provide this education to students enrolled in DPDs. Therefore, the primary recommendation of this study is the development of a standardized curriculum for genetics education in DPDs.

  12. Portfolio optimization by using linear programing models based on genetic algorithm

    Sukono; Hidayat, Y.; Lesmana, E.; Putra, A. S.; Napitupulu, H.; Supian, S.

    2018-01-01

    In this paper, we discussed the investment portfolio optimization using linear programming model based on genetic algorithms. It is assumed that the portfolio risk is measured by absolute standard deviation, and each investor has a risk tolerance on the investment portfolio. To complete the investment portfolio optimization problem, the issue is arranged into a linear programming model. Furthermore, determination of the optimum solution for linear programming is done by using a genetic algorithm. As a numerical illustration, we analyze some of the stocks traded on the capital market in Indonesia. Based on the analysis, it is shown that the portfolio optimization performed by genetic algorithm approach produces more optimal efficient portfolio, compared to the portfolio optimization performed by a linear programming algorithm approach. Therefore, genetic algorithms can be considered as an alternative on determining the investment portfolio optimization, particularly using linear programming models.

  13. The promises of genomic screening: building a governance infrastructure. Special issue: genetics and democracy

    Cornel, M.C.; van El, C.G.; Dondorp, W.J.

    2012-01-01

    New screening possibilities become available at a high rate, both useful and unsound possibilities. All screening programmes do harm, and only few have more advantages than disadvantages at reasonable cost. Horizon scanning is needed to identify those few possibilities with more pros than cons.

  14. A Call to Include Severe Combined Immunodeficiency in Newborn Screening Program

    Raz Somech

    2014-01-01

    Full Text Available Quantification of the T cell receptor excision circles (TRECs has recently emerged as a useful non-invasive clinical and research tool to investigate thymic activity. It allows the identification of T cell production by the thymus. Quantification of TREC copies has recently been implemented as the preferred test to screen neonates with severe combined immunodeficiency (SCID or significant lymphopenia. Neonatal genetic screening for SCID is highly important in countries with high rates of consanguinous marriages, such as Israel, and can be used for early diagnosis, enabling prompt therapeutic intervention that will save lives and improve the outcome of these patients. TREC measurement is also applicable in clinical settings where T cell immunity is involved, including any T cell immunodeficiencies, HIV infection, the aging process, autoimmune diseases, and immune reconstitution after bone marrow transplantation.

  15. Psychosocial aspects of hereditary cancer (PAHC) questionnaire: development and testing of a screening questionnaire for use in clinical cancer genetics.

    Eijzenga, W; Bleiker, E M A; Hahn, D E E; Kluijt, I; Sidharta, G N; Gundy, C; Aaronson, N K

    2014-08-01

    Up to three-quarters of individuals who undergo cancer genetic counseling and testing report psychosocial problems specifically related to that setting. The objectives of this study were to develop and evaluate the screening properties of a questionnaire designed to assess specific psychosocial problems related to cancer genetic counseling. We adopted the European Organisation for Research and Treatment of Cancer Quality of Life Group guidelines to develop the Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire, a 26-item questionnaire organized into six problem domains: genetics, practical issues, family, living with cancer, emotions, and children. The Distress Thermometer and a question per domain on the perceived need for extra psychosocial services were included as well. We administered the questionnaire and the Hospital Anxiety and Depression Scale to 127 counselees at the time of genetic counseling and 3 weeks after DNA test disclosure. As a gold standard to evaluate the screening properties of the questionnaire, participants underwent a semi-structured interview with an experienced social worker who assessed the presence and severity of problems per domain. A cutoff score representing responses of 'quite a bit' or 'very much' to one or more items within a given problem domain yielded moderate to high sensitivity across domains. A cutoff of 4 on the Distress Thermometer yielded high sensitivity. The questions regarding the perceived need for extra psychosocial services yielded high specificity and negative predictive values. The Psychosocial Aspects of Hereditary Cancer questionnaire in combination with the Distress Thermometer can be used as a first-line screener for psychosocial problems within the cancer genetic counseling setting. Copyright © 2014 John Wiley & Sons, Ltd.

  16. [Four year follow-up of a screening program for prostate cancer in workers].

    Reinoso-Barbero, Luis; Díaz-Garrido, Ramón; Piñaga-Solé, Montserrat; Fernández-Fernández, Miguel; Belanger-Quintana, Diego; Gómez-Gallego, Félix

    2013-01-01

    To analyze our four-year follow-up experience (2008-2011) with a prostate cancer screening program offered to employees of a banking company. Data were obtained from the health examinations carried out by the bank's in-house occupational health service (with centers in Barcelona, Madrid and Valencia). PSA (prostate-specific antigen) blood levels were measured and cases with high levels (>4 ng/ml) were followed through diagnosis and treatment, including a telephone survey of confirmed cases. Personal and occupational characteristics of the participants were analyzed as well. 750 workers (99% with administrative and/or commercial jobs) met the inclusion criteria for the screening program. Of these, 110 had elevated PSA levels on at least one occasion. The diagnosis of prostate cancer was confirmed in 21 cases. There were no associations between a diagnosis of cancer and the remaining analyzed variables. Urology and pathology records were retrieved for 76% of the contacted cases. The most frequent histological type was adenocarcinoma (98%), the most common Gleason grade at diagnosis was 6-7% (88%), and the majority of cases were treated surgically (90%).With respect to adverse effects, 48% of cases described erectile dysfunction and 33% reported urinary incontinence. In our program the observed prevalence of prostate cancer was above that expected (respectively, 21 confirmed cases vs. 12 expected). The identified cases unanimously expressed their support for the screening program. Copyright belongs to the Societat Catalana de Seguretat i Medicina del Treball.

  17. Generating information-rich high-throughput experimental materials genomes using functional clustering via multitree genetic programming and information theory.

    Suram, Santosh K; Haber, Joel A; Jin, Jian; Gregoire, John M

    2015-04-13

    High-throughput experimental methodologies are capable of synthesizing, screening and characterizing vast arrays of combinatorial material libraries at a very rapid rate. These methodologies strategically employ tiered screening wherein the number of compositions screened decreases as the complexity, and very often the scientific information obtained from a screening experiment, increases. The algorithm used for down-selection of samples from higher throughput screening experiment to a lower throughput screening experiment is vital in achieving information-rich experimental materials genomes. The fundamental science of material discovery lies in the establishment of composition-structure-property relationships, motivating the development of advanced down-selection algorithms which consider the information value of the selected compositions, as opposed to simply selecting the best performing compositions from a high throughput experiment. Identification of property fields (composition regions with distinct composition-property relationships) in high throughput data enables down-selection algorithms to employ advanced selection strategies, such as the selection of representative compositions from each field or selection of compositions that span the composition space of the highest performing field. Such strategies would greatly enhance the generation of data-driven discoveries. We introduce an informatics-based clustering of composition-property functional relationships using a combination of information theory and multitree genetic programming concepts for identification of property fields in a composition library. We demonstrate our approach using a complex synthetic composition-property map for a 5 at. % step ternary library consisting of four distinct property fields and finally explore the application of this methodology for capturing relationships between composition and catalytic activity for the oxygen evolution reaction for 5429 catalyst compositions in a

  18. Quantitative genome-wide genetic interaction screens reveal global epistatic relationships of protein complexes in Escherichia coli.

    Mohan Babu

    2014-02-01

    Full Text Available Large-scale proteomic analyses in Escherichia coli have documented the composition and physical relationships of multiprotein complexes, but not their functional organization into biological pathways and processes. Conversely, genetic interaction (GI screens can provide insights into the biological role(s of individual gene and higher order associations. Combining the information from both approaches should elucidate how complexes and pathways intersect functionally at a systems level. However, such integrative analysis has been hindered due to the lack of relevant GI data. Here we present a systematic, unbiased, and quantitative synthetic genetic array screen in E. coli describing the genetic dependencies and functional cross-talk among over 600,000 digenic mutant combinations. Combining this epistasis information with putative functional modules derived from previous proteomic data and genomic context-based methods revealed unexpected associations, including new components required for the biogenesis of iron-sulphur and ribosome integrity, and the interplay between molecular chaperones and proteases. We find that functionally-linked genes co-conserved among γ-proteobacteria are far more likely to have correlated GI profiles than genes with divergent patterns of evolution. Overall, examining bacterial GIs in the context of protein complexes provides avenues for a deeper mechanistic understanding of core microbial systems.

  19. Interval breast cancers: Absolute and proportional incidence and blinded review in a community mammographic screening program

    Carbonaro, Luca A., E-mail: luca.carbonaro@gmail.com [Unità di Radiologia, IRCCS Policlinico San Donato, Piazza E. Malan 2, San Donato Milanese (Mi) 20097 (Italy); Azzarone, Antonio [Servizio di Radiologia, Azienda Ospedaliera Circolo di Melegnano, Via Pandina 1, Vizzolo Predabissi (Mi) 20070 (Italy); Paskeh, Bijan Babaei [Unità di Radiologia, IRCCS Policlinico San Donato, Piazza E. Malan 2, San Donato Milanese (Mi) 20097 (Italy); Brambilla, Giorgio [Dipartimento di Radiologia, IRCCS Istituto Clinico Humanitas, Via Manzoni 56, Rozzano (Mi) 20089 (Italy); Brunelli, Silvia [Centro di Prevenzione Senologica, ULSS 20, Piazza Lambranzi, Verona 37034 (Italy); Calori, Anna [Servizio di Radiologia, Azienda Ospedaliera Circolo di Melegnano, Via Pandina 1, Vizzolo Predabissi (Mi) 20070 (Italy); Caumo, Francesca [Centro di Prevenzione Senologica, ULSS 20, Piazza Lambranzi, Verona 37034 (Italy); Malerba, Paolo [Dipartimento di Radiologia, IRCCS Istituto Clinico Humanitas, Via Manzoni 56, Rozzano (Mi) 20089 (Italy); Menicagli, Laura [Unità di Radiologia, IRCCS Policlinico San Donato, Piazza E. Malan 2, San Donato Milanese (Mi) 20097 (Italy); Sconfienza, Luca M. [Unità di Radiologia, IRCCS Policlinico San Donato, Piazza E. Malan 2, San Donato Milanese (Mi) 20097 (Italy); Dipartimento di Scienze Biomediche per la Salute, Università degli Studi di Milano, Milano (Italy); Vadalà, Giuseppe [Servizio di Radiologia, Azienda Ospedaliera Circolo di Melegnano, Via Pandina 1, Vizzolo Predabissi (Mi) 20070 (Italy); Brambilla, Gelma; Fantini, Luigi [Servizio di Medicina Preventiva delle Comunità, ASL Milano 2, Via Friuli 2, Lacchiarella (Mi) 20084 (Italy); Ciatto, Stefano [Screening Program, ULSS 16, Padova (Italy); and others

    2014-02-15

    Purpose: To evaluate the performance of the first years since the beginning of a mammographic population-based screening program. Materials and methods: Women aged 49–69 were invited biennially for two-view film-screen mammography and double reading without arbitration was performed. Interval cancers (ICs) from 2001 to 2006 were identified using screening archives, local pathology archives, and hospital discharge records. The proportional incidence of IC was determined considering breast cancers expected without screening. Three offsite radiologists experienced in breast cancer screening blindly evaluated mammograms prior to diagnosis, randomly mixed with negative mammograms (1:2 ratio). Cases unrecalled at review were considered as true ICs, those recalled by only one reviewer as minimal signs, and those recalled by two or three reviewers as missed cancers. T and N stage of the reviewed ICs were evaluated and compared. Results: A total of 86,276 first level mammograms were performed. Mean recall rate was 6.8% at first and 4.6% at repeat screening. We had 476 screen-detected cancers and 145 ICs (10 of them ductal carcinomas in situ). Absolute incidence was 17 per 10,000 screening examinations. Invasive proportional incidence was 19% (44/234) in the first year, 39% (91/234) in the second year, and 29% (135/468) in the two-year interval. Of 145 ICs, 130 (90%) were reviewed mixed with 287 negative controls: 55% (71/130) resulted to be true ICs, 24% (31/130) minimal signs, and 22% (28/130) missed cancers. The rate of ICs diagnosed in the first year interval was 21% (15/71) for true ICs, 46% (13/28) for missed cancers, and 39% (12/31) for minimal signs, with a significant difference of true ICs rate compared to missed cancers rate (p = 0.012). A higher rate of T3 and T4 stages was found for missed cancers (18%, 5/28) compared to minimal signs (6%, 2/31) or true ICs (8%, 6/71), while the rate of N2 and N3 stage for both minimal signs (19%, 6/31) or missed cancers (25

  20. Interval breast cancers: Absolute and proportional incidence and blinded review in a community mammographic screening program

    Carbonaro, Luca A.; Azzarone, Antonio; Paskeh, Bijan Babaei; Brambilla, Giorgio; Brunelli, Silvia; Calori, Anna; Caumo, Francesca; Malerba, Paolo; Menicagli, Laura; Sconfienza, Luca M.; Vadalà, Giuseppe; Brambilla, Gelma; Fantini, Luigi; Ciatto, Stefano

    2014-01-01

    Purpose: To evaluate the performance of the first years since the beginning of a mammographic population-based screening program. Materials and methods: Women aged 49–69 were invited biennially for two-view film-screen mammography and double reading without arbitration was performed. Interval cancers (ICs) from 2001 to 2006 were identified using screening archives, local pathology archives, and hospital discharge records. The proportional incidence of IC was determined considering breast cancers expected without screening. Three offsite radiologists experienced in breast cancer screening blindly evaluated mammograms prior to diagnosis, randomly mixed with negative mammograms (1:2 ratio). Cases unrecalled at review were considered as true ICs, those recalled by only one reviewer as minimal signs, and those recalled by two or three reviewers as missed cancers. T and N stage of the reviewed ICs were evaluated and compared. Results: A total of 86,276 first level mammograms were performed. Mean recall rate was 6.8% at first and 4.6% at repeat screening. We had 476 screen-detected cancers and 145 ICs (10 of them ductal carcinomas in situ). Absolute incidence was 17 per 10,000 screening examinations. Invasive proportional incidence was 19% (44/234) in the first year, 39% (91/234) in the second year, and 29% (135/468) in the two-year interval. Of 145 ICs, 130 (90%) were reviewed mixed with 287 negative controls: 55% (71/130) resulted to be true ICs, 24% (31/130) minimal signs, and 22% (28/130) missed cancers. The rate of ICs diagnosed in the first year interval was 21% (15/71) for true ICs, 46% (13/28) for missed cancers, and 39% (12/31) for minimal signs, with a significant difference of true ICs rate compared to missed cancers rate (p = 0.012). A higher rate of T3 and T4 stages was found for missed cancers (18%, 5/28) compared to minimal signs (6%, 2/31) or true ICs (8%, 6/71), while the rate of N2 and N3 stage for both minimal signs (19%, 6/31) or missed cancers (25

  1. Compression force and radiation dose in the Norwegian Breast Cancer Screening Program

    Waade, Gunvor G.; Sanderud, Audun [Department of Life Sciences and Health, Faculty of Health Sciences, Oslo and Akershus University College of Applied Sciences, P.O. 4 St. Olavs Plass, 0130 Oslo (Norway); Hofvind, Solveig, E-mail: solveig.hofvind@kreftregisteret.no [Department of Life Sciences and Health, Faculty of Health Sciences, Oslo and Akershus University College of Applied Sciences, P.O. 4 St. Olavs Plass, 0130 Oslo (Norway); The Cancer Registry of Norway, P.O. 5313 Majorstuen, 0304 Oslo (Norway)

    2017-03-15

    Highlights: • Compression force and radiation dose for 17 951 screening mammograms were analyzed. • Large variations in mean applied compression force between the breast centers. • Limited associations between compression force and radiation dose. - Abstract: Purpose: Compression force is used in mammography to reduce breast thickness and by that decrease radiation dose and improve image quality. There are no evidence-based recommendations regarding the optimal compression force. We analyzed compression force and radiation dose between screening centers in the Norwegian Breast Cancer Screening Program (NBCSP), as a first step towards establishing evidence-based recommendations for compression force. Materials and methods: The study included information from 17 951 randomly selected screening examinations among women screened with equipment from four different venors at fourteen breast centers in the NBCSP, January-March 2014. We analyzed the applied compression force and radiation dose used on craniocaudal (CC) and mediolateral-oblique (MLO) view on left breast, by breast centers and vendors. Results: Mean compression force used in the screening program was 116N (CC: 108N, MLO: 125N). The maximum difference in mean compression force between the centers was 63N for CC and 57N for MLO. Mean radiation dose for each image was 1.09 mGy (CC: 1.04mGy, MLO: 1.14mGy), varying from 0.55 mGy to 1.31 mGy between the centers. Compression force alone had a negligible impact on radiation dose (r{sup 2} = 0.8%, p = < 0.001). Conclusion: We observed substantial variations in mean compression forces between the breast centers. Breast characteristics and differences in automated exposure control between vendors might explain the low association between compression force and radiation dose. Further knowledge about different automated exposure controls and the impact of compression force on dose and image quality is needed to establish individualised and evidence

  2. Current Screening Procedures for the Usher Syndrome at Residential Schools for the Deaf.

    Day, Creagh Walker

    1982-01-01

    The results indicated that 53 percent of the schools that responded are screening students for Usher syndrome. One-half of the schools with screening programs offered some support services: personal counseling, genetic counseling, curricular modifications, and vocational counseling. (Author)

  3. Results of a pediatric vision screening program in western South Dakota.

    Terveen, Daniel C; Moser, Jess M; Spencer, Terrence S

    2015-03-01

    South Dakota is one of eight states that do not require any vision screening for children. This study describes the results of the first children's vision screening program in the state. Children ages 6 months to 12 years were screened using the SPOT photoscreener by lay volunteers as part of the Northern Plains Eye Foundation's Western South Dakota Children's Vision Screening Initiative (CVSI). Referral criteria were based on the recommendations of the manufacturer. Data was stratified by age group, sex, and percentage of children referred for hyperopia, myopia, astigmatism, anisocoria, anisometropia, and ocular misalignment. The cost benefit of amblyopia treatment in South Dakota was also calculated. Screenings were completed on 4,784 children from August 2012 to May 2014 with 62 excluded due to age. Mean age of the 4,722 (2,373 females) subjects was 6 years 7 months. Overall, the SPOT device referred 563 (11.9 percent) children. There was no significant difference in referral rate based on sex (p = 0.598). Children aged 73-144 months had the highest referral rate (12.2 percent) and children aged 12-30 months had the lowest referral rate (7.9 percent). The suspected reasons for referral based upon the screenings were as follows: 371 (7.9 percent) astigmatism, 24 (0.5 percent) ocular misalignment, 101 (2.1 percent) anisometropia, 135 (2.9 percent) myopia, 36 (0.8 percent) hyperopia, and 16 (0.3 percent) anisocoria. The SPOT photoscreener yielded an acceptable referral rate of 11.9 percent. This study represents an effective model for pediatric vision screening in South Dakota.

  4. Effectiveness of an employee skin cancer screening program for secondary prevention.

    Uslu, Ugur; Hees, Felix; Winnik, Eva; Uter, Wolfgang; Sticherling, Michael

    2016-08-01

    Incidences of UV-induced skin cancer are continuously increasing. For this reason, early diagnosis is becoming more important. In this study, 783 employees of a technical company participated in an employee skin cancer screening program, which consisted of a physical examination for benign and malignant skin lesions and premalignant conditions. To ensure the quality of the examinations, screening was only performed by 5 trained dermatologists. Participants also were asked to complete a standardized questionnaire prior to examination. A total of 661 skin lesions were diagnosed among 48% of participants; 12.8% of participants exhibited 50 or more melanocytic nevi and the risk for developing skin cancer was categorized as at least moderate for 64.9%. Additionally, 84.4% of participants with at least 1 skin lesion were advised to have a checkup within 1 year. The high rate of suspicious nevi detected in this study suggested that employee skin cancer screening programs are effective and also should be recommended at companies where employees are not at increased risk for developing skin cancer due to the nature of their work (eg, those who work outdoors). Despite the comparatively selective and young study population, these examinations provide evidence of the importance of skin cancer screening for the wider population.

  5. Employee response to a company-sponsored program of colorectal and prostate cancer screening.

    Myers, R E; Vernon, S W; Carpenter, A V; Balshem, A M; Lewis, P G; Wolf, T A; Hilbert, J; DeFonso, L R; Ross, E A

    1997-01-01

    Studies done in the mid-1970s documented increased risk for respiratory cancer and leukemia among employees in a chemical company manufacturing plant where chloromethyl ethers were used in production from 1948 to 1971. In the late 1980s, the company informed current and former employees about the results of follow-up studies which showed a moderation of risk of respiratory cancer and leukemia. New data showing elevated rates of mortality from colorectal, prostate, bladder, and pancreatic cancer in the population were also reported. Via mailed correspondence, the company made a no-cost program of colorectal and prostate cancer screening available to employees upon request; and information about bladder and pancreatic cancer was made available. Thirteen percent of employees in the population indicated interest in colorectal and prostate cancer screening (response). Thirty-one percent of these responders were screened (adherence). Multivariate analyses showed that education and length of employment in the plant were positively associated with response. Being white was positively associated with response for younger workers; while among older workers being male was positively associated with response. In terms of adherence, we found that older, more highly educated workers were more likely to have a screening examination. Findings indicate that employee participation in workplace-sponsored colorectal and prostate cancer screening can vary according to worker sociodemographic factors and length of employment in areas of potential exposure.

  6. Prenatal screening for chromosomal abnormalities in IVF patients that opted for preimplantation genetic screening/diagnosis (PGS/D): a need for revised algorithms in the era of personalized medicine.

    Takyi, Afua; Santolaya-Forgas, Joaquin

    2017-06-01

    Obstetricians offer prenatal screening for most common chromosomal abnormalities to all pregnant women including those that had in vitro fertilization (IVF) and preimplantation genetic screening/diagnosis (PGS/D). We propose that free fetal DNA in maternal circulation together with the second trimester maternal serum alfa feto protein (MSAFP) and ultrasound imaging is the best prenatal screening test for chromosomal abnormalities and congenital anomalies in IVF-PGD/S patients because risk estimations from all other prenatal screening algorithms for chromosomal abnormalities depend heavily on maternal age which is irrelevant in PGS/D patients.

  7. Practical experiences with an extended screening strategy for genetically modified organisms (GMOs) in real-life samples.

    Scholtens, Ingrid; Laurensse, Emile; Molenaar, Bonnie; Zaaijer, Stephanie; Gaballo, Heidi; Boleij, Peter; Bak, Arno; Kok, Esther

    2013-09-25

    Nowadays most animal feed products imported into Europe have a GMO (genetically modified organism) label. This means that they contain European Union (EU)-authorized GMOs. For enforcement of these labeling requirements, it is necessary, with the rising number of EU-authorized GMOs, to perform an increasing number of analyses. In addition to this, it is necessary to test products for the potential presence of EU-unauthorized GMOs. Analysis for EU-authorized and -unauthorized GMOs in animal feed has thus become laborious and expensive. Initial screening steps may reduce the number of GMO identification methods that need to be applied, but with the increasing diversity also screening with GMO elements has become more complex. For the present study, the application of an informative detailed 24-element screening and subsequent identification strategy was applied in 50 animal feed samples. Almost all feed samples were labeled as containing GMO-derived materials. The main goal of the study was therefore to investigate if a detailed screening strategy would reduce the number of subsequent identification analyses. An additional goal was to test the samples in this way for the potential presence of EU-unauthorized GMOs. Finally, to test the robustness of the approach, eight of the samples were tested in a concise interlaboratory study. No significant differences were found between the results of the two laboratories.

  8. The Peru Cervical Cancer Screening Study (PERCAPS): The Design and Implementation of a Mother/Daughter Screen, Treat, and Vaccinate Program in the Peruvian Jungle

    Abuelo, Carolina E.; Levinson, Kimberly L.; Salmeron, Jorge; Sologuren, Carlos Vallejos; Fernandez, Maria Jose Vallejos; Belinson, Jerome L.

    2014-01-01

    Peru struggles to prevent cervical cancer (CC). In the jungle, prevention programs suffer from significant barriers although technology exists to detect CC precursors. This study used community based participatory research (CBPR) methods to overcome barriers. The objective was to evaluate the utility of CBPR techniques in a mother–child screen/treat and vaccinate program for CC prevention in the Peruvian jungle. The CC prevention program used self-sampling for human papillomavirus (HPV) for s...

  9. Effectiveness of a Web-Based Protocol for the Screening and Phenotyping of Individuals with Tourette Syndrome for Genetic Studies

    Egan, Crystelle; Marakovitz, Susan; O’Rourke, Julia; Osiecki, Lisa; Illmann, Cornelia; Barton, Lauren; McLaughlin, Elizabeth; Proujansky, Rachel; Royal, Justin; Cowley, Heather; Rangel-Lugo, Martha; Pauls, David; Scharf, Jeremiah M.; Mathews, Carol A.

    2014-01-01

    Genome-wide association studies (GWAS) and other emerging technologies offer great promise for the identification of genetic risk factors for complex psychiatric disorders, yet such studies are constrained by the need for large sample sizes. Web-based collection offers a relatively untapped resource for increasing participant recruitment. Therefore, we developed and implemented a novel web-based screening and phenotyping protocol for genetic studies of Tourette Syndrome (TS), a childhood-onset neuropsychiatric disorder characterized by motor and vocal tics. Participants were recruited over a 13 month period through the membership of the Tourette Syndrome Association (TSA) (n=28,878). Of the TSA members contacted, 4.3% (1,242) initiated the questionnaire, and 79.5% (987) of these were enrollment eligible. 63.9% (631) of enrolled participants completed the study by submitting phenotypic data and blood specimens. Age was the only variable that predicted study completion; children and young adults were significantly less likely to be study completers than adults 26 and older. Compared to a clinic-based study conducted over the same time period, the web-based method yielded a 60% larger sample. Web-based participants were older and more often female; otherwise, the sample characteristics did not differ significantly. TS diagnoses based on the web-screen demonstrated 100% accuracy compared to those derived from in-depth clinical interviews. Our results suggest that a web-based approach is effective for increasing the sample size for genetic studies of a relatively rare disorder and that our web-based screen is valid for diagnosing TS. Findings from this study should aid in the development of web-based protocols for other disorders. PMID:23090870

  10. [The significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis].

    Zhang, J; Wang, Y N; Wang, J S; Wu, L; Wei, N; Fu, L; Gao, Z; Chen, J H; Pei, R J; Wang, Z

    2016-07-01

    To investigate the significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis (HLH). Four cases of primary HLH patients with PRF1, UNC13D and SH2D1A gene mutations were conducted pedigree investigation, including family genetic screening and detections of immunological parameters (NK cell activity, CD107a degranulation and expression of HLH related defective protein), to evaluate the significance of these different indicators in the diagnosis of primary HLH and explore their correlations. The DNA mutations of the four families included missense mutation c.T172C (p.S58P) and non- frameshift deletions c.1083_1094del (p.361_365del), missense mutation c.C1349T (p.T450M) and frameshift mutation c.1090_1091delCT (p.T364fsX93) in PRF1 gene, missense mutation c.G2588A (p.G863D) in UNC13D gene and hemizygous mutation c.32T>G (p.I11S) in SH2D1A gene. The patients and their family members presented decreased NK cell activities. Individuals who carried mutations of PRF1 gene and SH2D1A gene showed low expression of perforin (PRF1) and signaling lymphocytic activation molecule associated protein (SAP). And the patient with UNC13D gene mutation and his family member with identical mutation showed significant reducing cytotoxic degranulation function (expression of CD107a). Pedigree genetic screening and rapid detection of immunological parameters might play an important role in the diagnosis of primary HLH, and both of them had good consistency. As an efficient detection means, the rapid immunological detection indicators would provide reliable basis for the early diagnosis of the primary HLH.

  11. Rapid genetically modified organism (GMO screening of various food products and animal feeds using multiplex polymerase chain reaction (PCR

    Lisha, V.

    2017-01-01

    Full Text Available modified crops which brought up a controversy on the safety usage of genetically modified organisms (GMOs. It has been implemented globally that all GMO products and its derived ingredients should have regulations on the usage and labelling. Thus, it is necessary to develop methods that allow rapid screening of GMO products to comply with the regulations. This study employed a reliable and flexible multiplex polymerase chain reaction (PCR method for the rapid detection of transgenic elements in genetically modified soy and maize along with the soybean LECTIN gene and maize ZEIN gene respectively. The selected four common transgenic elements were 35S promoter (35S; Agrobacterium tumefaciens nopaline synthase terminator (NOS; 5-enolypyruvylshikimate-3-phosphate synthase (epsps gene; and Cry1Ab delta-endotoxin (cry1Ab gene. Optimization of the multiplex PCR methods were carried out by using 1% Roundup ReadyTM Soybean (RRS as the certified reference material for soybean that produced fourplex PCR method detecting 35S promoter, NOS terminator, epsps gene and soybean LECTIN gene and by using 1% MON810 as the certified reference material for maize that produced triplex PCR method detecting 35S promoter, cry1Ab gene and maize ZEIN gene prior to screening of the GMO traits in various food products and animal feeds. 1/9 (11.1% of the animal feed contained maize and 1/15 (6.7% of the soybean food products showed positive results for the detection of GMO transgenic gene. None of the maize food products showed positive results for GMO transgenic gene. In total, approximately 4% of the food products and animal feed were positive as GMO. This indicated GMOs have not widely entered the food chain. However, it is necessary to have an appropriate screening method due to GMOs’ unknown potential risk to humans and to animals. This rapid screening method will provide leverage in terms of being economically wise, time saving and reliable.

  12. Current status of the congenital hypothyroidism neonatal screening program in Adana Province, Turkey.

    Kor, Yılmaz; Kor, Deniz

    2018-05-11

    Congenital hypothyroidism (CH) is a common cause of mental retardation; it has a worldwide incidence ranging from 1:3000 to 1:4500 live births. Predictably, an increase in the reported incidence of primary CH occurs when the cut-off levels of thyroid-stimulating hormone are lowered. We aimed to evaluate the results of a congenital hypothyroidism screening program and current status in this study. Analysis results of 1300 infants who were referred to the endocrinology polyclinic because of suspected CH within the scope of the Ministry of Health National Neonatal Screening Program were retrospectively evaluated. The diagnosis of CH and initiation of treatment were both done in 223 (18.5%) and 10 (0.8%) infants as a result of the initial evaluation and follow-up, respectively. The mean capillary and venous thyroid-stimulating hormone (TSH) levels of 223 patients were 40.78 (5.5-100) μIU/mL and 67.26 (10.7-100) μIU/mL, respectively. These patients' mean heel prick time was 8.65 (0-30, median: 7) days. The mean age of the 223 infants whose treatment was initiated as a result of the initial evaluation was 19.87 (4-51, median: 20) days, and the mean age of the infants whose treatment was started at follow-up was 43.71 (29-65) days. The duration between heel prick time and venous TSH time was 11.10 (2-28, median: 11) days and was longer than planned (3-5 days). Although the duration for the diagnosis and initiation of CH treatment were markedly reduced with the implementation of the screening program in Turkey compared to those before the implementation of the screening program, we have not yet achieved the ideal time (≤14 days).

  13. [Breast cancer incidence related with a population-based screening program].

    Natal, Carmen; Caicoya, Martín; Prieto, Miguel; Tardón, Adonina

    2015-02-20

    To compare breast cancer cumulative incidence, time evolution and stage at diagnosis between participants and non-participant women in a population-based screening program. Cohort study of breast cancer incidence in relation to participation in a population screening program. The study population included women from the target population of the screening program. The source of information for diagnostics and stages was the population-based cancer registry. The analysis period was 1999-2010. The Relative Risk for invasive, in situ, and total cancers diagnosed in participant women compared with non-participants were respectively 1.16 (0.94-1.43), 2.98 (1.16-7.62) and 1.22 (0.99-1.49). The Relative Risk for participants versus non-participants was 2.47 (1.55-3.96) for diagnosis at stagei, 2.58 (1.67-3.99) for T1 and 2.11 (1.38-3.23) for negative lymph node involvement. The cumulative incidence trend had two joint points in both arms, with an Annual Percent of Change of 92.3 (81.6-103.5) between 1999-2001, 18.2 (16.1-20.3) between 2001-2005 and 5.9 (4.0-7.8) for the last period in participants arm, and 72.6 (58.5-87.9) between 1999-2001, 12.6 (7.9-17.4) between 2001-2005, and 8.6 (6.5-10.6) in the last period in the non-participant arm. Participating in the breast cancer screening program analyzed increased the in situ cumulative cancer incidence, but not the invasive and total incidence. Diagnoses were earlier in the participant arm. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  14. Economic evaluation of screening programs for hepatitis C virus infection: evidence from literature

    Coretti S

    2015-04-01

    Full Text Available Silvia Coretti,1 Federica Romano,1 Valentina Orlando,2 Paola Codella,1 Sabrina Prete,1 Eugenio Di Brino,1 Matteo Ruggeri1 1Post-Graduate School of Economics and Management (ALTEMS, Università Cattolica del Sacro Cuore, Rome, Italy; 2Center of Pharmacoeconomics (CIRFF, Department of Pharmacy, Federico II University, Naples, Italy Background: Hepatitis C is a liver infection caused by hepatitis C virus. Its main complications are cirrhosis and liver cancer. According to the World Health Organization (WHO, more than 185 million people worldwide are infected with hepatitis C virus and, of these, 350,000 die every year. Due to the high disease prevalence and the existence of effective (and expensive medical treatments able to dramatically change the prognosis, early detection programs can potentially prevent the development of serious chronic conditions, improve health, and save resources. Objective: To summarize the available evidence on the cost-effectiveness of screening programs for hepatitis C. Methods: A literature search was performed on PubMed and Scopus search engines. Trip database was queried to identify reports produced by the major Health Technology Assessment (HTA agencies. Three reviewers dealt with study selection and data extraction blindly. Results: Ten papers eventually met the inclusion criteria. In studies focusing on asymptomatic cohorts of individuals at general risk the cost/quality adjusted life year of screening programs ranged between US $4,200 and $50,000/quality adjusted life year gained, while in those focusing on specific risk factors the incremental cost-effectiveness ratio ranged between $848 and $128,424/quality adjusted life year gained. Age of the target population and disease prevalence were the main cost-effectiveness drivers. Conclusion: Our results suggest that, especially in the long run, screening programs represent a cost-effective strategy for the management of hepatitis C. Keywords: hepatitis C, screening

  15. Developing close combat behaviors for simulated soldiers using genetic programming techniques.

    Pryor, Richard J.; Schaller, Mark J.

    2003-10-01

    Genetic programming is a powerful methodology for automatically producing solutions to problems in a variety of domains. It has been used successfully to develop behaviors for RoboCup soccer players and simple combat agents. We will attempt to use genetic programming to solve a problem in the domain of strategic combat, keeping in mind the end goal of developing sophisticated behaviors for compound defense and infiltration. The simplified problem at hand is that of two armed agents in a small room, containing obstacles, fighting against each other for survival. The base case and three changes are considered: a memory of positions using stacks, context-dependent genetic programming, and strongly typed genetic programming. Our work demonstrates slight improvements from the first two techniques, and no significant improvement from the last.

  16. A Genetic-Algorithms-Based Approach for Programming Linear and Quadratic Optimization Problems with Uncertainty

    Weihua Jin

    2013-01-01

    Full Text Available This paper proposes a genetic-algorithms-based approach as an all-purpose problem-solving method for operation programming problems under uncertainty. The proposed method was applied for management of a municipal solid waste treatment system. Compared to the traditional interactive binary analysis, this approach has fewer limitations and is able to reduce the complexity in solving the inexact linear programming problems and inexact quadratic programming problems. The implementation of this approach was performed using the Genetic Algorithm Solver of MATLAB (trademark of MathWorks. The paper explains the genetic-algorithms-based method and presents details on the computation procedures for each type of inexact operation programming problems. A comparison of the results generated by the proposed method based on genetic algorithms with those produced by the traditional interactive binary analysis method is also presented.

  17. Genetic Screening of WNT4 and WNT5B in Two Populations with Deviating Bone Mineral Densities

    Hendrickx, Gretl; Boudin, Eveline; Steenackers, Ellen

    2017-01-01

    A role for WNT4 and WNT5B in bone metabolism was indicated by genome-wide association studies (GWAS) and a Wnt4 knockout mouse model. The aim of this study was therefore to replicate and further investigate the causality between genetic variation in WNT4 and WNT5B and deviating bone mineral density...... (BMD) values. A WNT4 and WNT5B mutation screening was performed in patients with craniotubular hyperostosis using Sanger sequencing. Here, no putative causal mutations were detected. Moreover, a high and low BMD cohort was selected from the Odense Androgen Study population for re-sequencing. In WNT4 we...

  18. Complementary genetic screens identify the E3 ubiquitin ligase CBLC, as a modifier of PARP inhibitor sensitivity

    Frankum, J.; Moudrý, P.; Brough, R.; Hodný, Zdeněk; Ashworth, A.; Bartek, Jiří; Lord, C.J.

    2015-01-01

    Roč. 6, č. 13 (2015), s. 10746-10758 ISSN 1949-2553 R&D Projects: GA ČR GA13-17555S EU Projects: European Commission HEALTH-F2-2010-259893 Grant - others:Lundbeck Foundation(DK) R93-A8990; Danish Council for Independent Research(DK) DFF-1331-00262 Institutional support: RVO:68378050 Keywords : DNA damage response * ubiquitin-proteasome system * RNA interference screens * PARP inhibitors * CBLC Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 5.008, year: 2015

  19. Comprehensive evaluation of cervical cancer screening programs: the case of Colombia

    Raúl Murillo

    2011-12-01

    Full Text Available OBJECTIVE: To identify critical screening program factors for reducing cervical cancer mortality in Colombia. MATERIAL AND METHODS: Coverage, quality, and screening follow-up were evaluated in four Colombian states with different mortality rates. A case-control study (invasive cancer and healthy controls evaluating screening history was performed. RESULTS: 3-year cytology coverage was 72.7%, false negative rate 49%, positive cytology follow-up 64.2%. There was no association between screening history and invasive cancer in two states having high cytology coverage but high false negative rates. Two states revealed association between deficient screening history and invasive cancer as well as lower positive-cytology follow-up. CONCLUSIONS: Reduced number of visits between screening and treatment is more relevant when low access to health care is present. Improved quality is a priority if access to screening is available. Suitable interventions for specific scenarios and proper appraisal of new technologies are compulsory to improve cervical cancer screening. Comprehensive process-failure audits among invasive cancer cases could improve program evaluation since mortality is a late outcome.OBJETIVO: Identificar factores críticos para reducir la mortalidad por cáncer cervical en Colombia. MATERIAL Y MÉTODOS: Se evaluó cobertura, calidad y seguimiento del tamizaje en cuatro departamentos con tasas de mortalidad diferenciales. Un estudio de casos (cáncer invasor y controles (sanos evaluó historia de tamizaje. RESULTADOS: Cobertura 72,7%; falsos negativos 49%; acceso a diagnóstico-tratamiento de HSIL 64,2%. La historia de tamizaje no se asoció con cáncer invasor en dos departamentos con elevada cobertura pero elevada proporción de falsos negativos. Dos departamentos con asociación entre historia de tamizaje deficiente y cáncer invasor tuvieron cobertura aceptable pero bajo acceso a diagnóstico-tratamiento. No hubo relación entre mortalidad

  20. Weqaya: A Population-Wide Cardiovascular Screening Program in Abu Dhabi, United Arab Emirates

    Harrison, Oliver; Al Siksek, Zaid

    2012-01-01

    Objectives. We sought to determine cardiovascular risk factor prevalence rates among adults in Abu Dhabi, United Arab Emirates. Methods. We used self-reported indicators, anthropometric measures, and blood tests to screen 50 138 adults aged 18 years or older taking part in a population-wide cardiovascular screening program. Results. Participants’ mean age was 36.82 years (SD = 14.3); 43% were men. Risk factor prevalence rates were as follows: obesity, 35%; overweight, 32%; central obesity, 55%; diabetes, 18%; prediabetes, 27%; dyslipidemia, 44%; and hypertension, 23.1%. In addition, 26% of men were smokers, compared with 0.8% of women. Age-standardized diabetes and prediabetes rates were 25% and 30%, respectively, and age-standardized rates of obesity and overweight were 41% and 34%. Conclusions. This population-wide cardiovascular screening program demonstrated a high cardiovascular burden for our small sample in Abu Dhabi. The data form a baseline against which interventions can be implemented and progress monitored as part of the population-wide Abu Dhabi Cardiovascular Disease Program. PMID:21940918

  1. American College of Radiology Accreditation Program for mammographic screening sites: Physical evaluation criteria

    Hendrick, R.E.; Haus, A.G.; Hubbard, L.B.; Lasky, H.J.; McCrohan, J.; McLelland, R.; Rothenberg, L.N.; Tanner, R.L.; Zinninger, M.D.

    1987-01-01

    The American College of Radiology has initiated a program for the accreditation of mammographic screening sites, which includes evaluation by mail of image quality and average glandular breast dose. Image quality is evaluated by use of a specially designed phantom (a modified RMI 152D Mammographic Phantom) containing simulated microcalcifications, fibrils and masses. Average glandular dose to a simulated 4.5-cm-thick (50% glandular, 50% fat) compressed breast is evaluated by thermoluminescent dosimeter measurements of entrance exposure and half value layer. Standards for acceptable image quality and patient doses are presented and preliminary results of the accreditation program are discussed

  2. Translation and validation of a Spanish-language genetic health literacy screening tool.

    Rodríguez, Sally Ann; Roter, Debra L; Castillo-Salgado, Carlos; Hooker, Gillian W; Erby, Lori H

    2015-02-01

    Literacy deficits and underutilization of medical services have been linked to health disparities among minorities, and this appears especially relevant for the Latino population. Given the increasing importance of genetics, assessment of genetic health literacy may direct future efforts to better serve this vulnerable population. The current study was designed to contribute to this area by translating and validating a Spanish-language genetic health literacy measure. This was a cross-sectional study involving an interviewer-administered questionnaire. Eligible individuals were Latinos between the ages of 18 and 75 residing in Maryland, who self-reported Spanish as their primary language, recruited through convenience sampling. The genetic health literacy measure components were adapted from existing English-language measures [Erby, Roter, Larson, & Cho's (2008) Rapid Estimate of Adult Literacy in Genetics (REAL-G) and Hooker et al.'s (2014) Genetic Literacy and Comprehension]. An existing Spanish-language general health literacy measure was used to establish preliminary concurrent validity [Lee, Bender, Ruiz, & Cho's (2006) SAHLSA]. 116 individuals completed the assessment. The Spanish-language REAL-G (REAL-G-Sp) was found to correlate well with the SAHLSA (Pearson's r = .77, p validity with an existing health literacy measure in the Latino population residing in Maryland. Significant proportions of this population are predicted to have limitations in genetic health literacy, even when information is provided in Spanish.

  3. Digital Breast Tomosynthesis with Synthesized Two-Dimensional Images versus Full-Field Digital Mammography for Population Screening: Outcomes from the Verona Screening Program.

    Caumo, Francesca; Zorzi, Manuel; Brunelli, Silvia; Romanucci, Giovanna; Rella, Rossella; Cugola, Loredana; Bricolo, Paola; Fedato, Chiara; Montemezzi, Stefania; Houssami, Nehmat

    2018-04-01

    Purpose To examine the outcomes of a breast cancer screening program based on digital breast tomosynthesis (DBT) plus synthesized two-dimensional (2D) mammography compared with those after full-field digital mammography (FFDM). Materials and Methods This prospective study included 16 666 asymptomatic women aged 50-69 years who were recruited in April 2015 through March 2016 for DBT plus synthetic 2D screening in the Verona screening program. A comparison cohort of women screened with FFDM (n = 14 423) in the previous year was included. Screening detection measures for the two groups were compared by calculating the proportions associated with each outcome, and the relative rates (RRs) were estimated with multivariate logistic regression. Results Cancer detection rate (CDR) for DBT plus synthetic 2D imaging was 9.30 per 1000 screening examinations versus 5.41 per 1000 screening examinations with FFDM (RR, 1.72; 95% confidence interval [CI]: 1.30, 2.29). CDR was significantly higher in patients screened with DBT plus synthetic 2D imaging than in those screened with FFDM among women classified as having low breast density (RR, 1.53; 95% CI: 1.13, 2.10) or high breast density (RR, 2.86; 95% CI: 1.42, 6.25). The positive predictive value (PPV) for recall was almost doubled with DBT plus synthetic 2D imaging: 23.3% versus 12.9% of recalled patients who were screened with FFDM (RR, 1.81; 95% CI: 1.34, 2.47). The recall rate was similar between groups (RR, 0.95; 95% CI: 0.84, 1.06), whereas the recall rate with invasive assessment was higher for DBT plus synthetic 2D imaging than for FFDM (RR, 1.93; 95% CI: 1.31, 2.03). The mean number of screening studies interpreted per hour was significantly lower for screening examinations performed with DBT plus synthetic 2D imaging (38.5 screens per hour) than with FFDM (60 screens per hour) (P < .001). Conclusion DBT plus synthetic 2D imaging increases CDRs with recall rates comparable to those of FFDM. DBT plus synthetic 2D imaging

  4. Optical pre-screening in breast screening programs: Can we identify women who benefit most from limited mammography resources?

    Walter, Jane; Loshchenov, Maxim; Zhilkin, Vladimir; Peake, Rachel; Stone, Jennifer; Lilge, Lothar

    2017-04-01

    Background: In excess of 60% of all cancers are detected in low and middle-income countries, with breast cancer (BC) the dominant malignancy for women. Incidence rates continue to climb, most noticeably in the less than 50-year-old population. Expansion of mammography infrastructure and resources is lacking, resulting in over 60% of women diagnosed with stage III/IV BC in the majority of these countries. Optical Breast Spectroscopy (OBS) was shown to correlate well with mammographic breast density (MBD). OBS could aid breast screening programs in low- and middle-income countries by lowering the number of mammographs required for complete population coverage. However, its performance needs to be tested in large population trails to ensure high sensitivity and acceptable specificity. Methods: For the planned studies in low- and middle-income countries in different continents, online methods need to be implemented to monitor the performance and data collection by these devices, operated by trained nurses. Based on existing datasets, procedures were developed to validate an individual woman's data integrity and to identify operator errors versus system malfunctions. Results: Using a dataset comprising spectra from 360 women collected by 2 instruments in different locations and with 3 different trained operators, automated methods were developed to identify 100% of the source or photodetector malfunctions as well as incorrect calibrations and 96% of instances of insufficient tissue contact. Conclusions: Implementing the dataset validation locally in each instrument and tethered to a cloud database will allow the planned clinical trials to proceed.

  5. Ten years of breast screening in the Nova Scotia breast screening program, 1991-2001. Experience: Use of an adaptable stereotactic device in the diagnosis of screening-detected abnormalities

    Caines, J.S.; Schaller, G.H.; Iles, S.E.; Woods, E.R.; Barnes, P.J.; Johnson, A.J.; Jones, G.R.M.; Borgaonkar, J.N.; Rowe, J.A.; Topp, T.J.; Porter, G.A.

    2005-01-01

    To evaluate and present 10-year outcomes of The Nova Scotia Breast Screening Program (NSBSP), a population-based screening program in Its province of Nova Scotia, Canada, total population 900 000. Organized Breast Screening Program in Nova Scotia, Canada. Rates of participation, abnormal referrals, cancer detection rates, and benign: malignant (B:M) rates for core biopsy and surgical biopsy were calculated for asymptomatic women receiving a mammogram through The NSBSP 1991-2001. Of 192,454 mammograms performed on 71,317 women, 33% were aged 40 to 49 years, 39% aged 50 to 59 years, 23% aged 60 to 69 years, and 5% aged 70 years and over. Cancer detection rate increased in each age group respectively: 3.7, 5.8, 9.7, and 13.5 per 1000 population on first-time screens. The positive predictive value of an abnormal screen increased with increasing age groups. Benign breast surgery decreased with increased use of needle core breast biopsy (NCBB). Open surge decreased from 25 to 6 surgeries per 1000 screens. Of 1519 open surgical procedures (1328 women), 878 cancers were removed, with 37% 10mm or less, and 61% 15mm or less. In 613 women in whom the node status was assessed, 79% were negative. A quality screening program incorporating NCBB in the diagnostic work-up is effective in the early detection of breast cancer and results in less open surgery, particularly in younger women. (author)

  6. Characterization of mortality in children with sickle cell disease diagnosed through the Newborn Screening Program.

    Sabarense, Alessandra P; Lima, Gabriella O; Silva, Lívia M L; Viana, Marcos Borato

    2015-01-01

    To characterize the deaths of 193 children with sickle cell disease screened by a neonatal program from 1998 to 2012 and contrast the initial years with the final years. Deaths were identified by active surveillance of children absent to scheduled appointments in Blood Bank Clinical Centers (Hemominas). Clinical and epidemiological data came from death certificates, neonatal screening database, medical records, and family interviews. Between 1998 and 2012, 3,617,919 children were screened and 2,591 had sickle cell disease (1:1,400). There were 193 deaths (7.4%): 153 with SS/Sβ(0)-thalassemia, 34 SC and 6 Sβ(+)thalassemia; 76.7% were younger than five years; 78% died in the hospital and 21% at home or in transit. The main causes of death were infection (45%), indeterminate (28%), and acute splenic sequestration (14%). In 46% of death certificates, the term "sickle cell" was not recorded. Seven-year death rate for children born between 1998 and 2005 was 5.43% versus 5.12% for those born between 2005 and 2012 (p = 0.72). Medical care was provided to 75% of children; 24% were unassisted. Medical care was provided within 6 hours of symptom onset in only half of the interviewed cases. In 40.5% of cases, death occurred within the first 24 hours. Low family income was recorded in 90% of cases, and illiteracy in 5%. Although comprehensive and effective, neonatal screening for sickle cell disease was not sufficient to significantly reduce mortality in a newborn screening program. Economic and social development and increase of the knowledge on sickle cell disease among health professionals and family are needed to overcome excessive mortality. Copyright © 2014 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  7. Characterization of mortality in children with sickle cell disease diagnosed through the Newborn Screening Program

    Alessandra P. Sabarense

    2015-06-01

    Full Text Available OBJECTIVE: To characterize the deaths of 193 children with sickle cell disease screened by a neonatal program from 1998 to 2012 and contrast the initial years with the final years. METHODS: Deaths were identified by active surveillance of children absent to scheduled appointments in Blood Bank Clinical Centers (Hemominas. Clinical and epidemiological data came from death certificates, neonatal screening database, medical records, and family interviews. RESULTS: Between 1998 and 2012, 3,617,919 children were screened and 2,591 had sickle cell disease (1:1,400. There were 193 deaths (7.4%: 153 with SS/Sß0-talassemia, 34 SC and 6 Sß+thalassemia; 76.7% were younger than five years; 78% died in the hospital and 21% at home or in transit. The main causes of death were infection (45%, indeterminate (28%, and acute splenic sequestration (14%. In 46% of death certificates, the term "sickle cell" was not recorded. Seven-year death rate for children born between 1998 and 2005 was 5.43% versus 5.12% for those born between 2005 and 2012 (p = 0.72. Medical care was provided to 75% of children; 24% were unassisted. Medical care was provided within 6 hours of symptom onset in only half of the interviewed cases. In 40.5% of cases, death occurred within the first 24 hours. Low family income was recorded in 90% of cases, and illiteracy in 5%. CONCLUSIONS: Although comprehensive and effective, neonatal screening for sickle cell disease was not sufficient to significantly reduce mortality in a newborn screening program. Economic and social development and increase of the knowledge on sickle cell disease among health professionals and family are needed to overcome excessive mortality.

  8. Applying genetic algorithms for programming manufactoring cell tasks

    Efredy Delgado

    2005-05-01

    Full Text Available This work was aimed for developing computational intelligence for scheduling a manufacturing cell's tasks, based manily on genetic algorithms. The manufacturing cell was modelled as beign a production-line; the makespan was calculated by using heuristics adapted from several libraries for genetic algorithms computed in C++ builder. Several problems dealing with small, medium and large list of jobs and machinery were resolved. The results were compared with other heuristics. The approach developed here would seem to be promising for future research concerning scheduling manufacturing cell tasks involving mixed batches.

  9. Why does cervical cancer occur in a state-of-the-art screening program?

    Castle, Philip E; Kinney, Walter K; Cheung, Li C; Gage, Julia C; Fetterman, Barbara; Poitras, Nancy E; Lorey, Thomas S; Wentzensen, Nicolas; Befano, Brian; Schussler, John; Katki, Hormuzd A; Schiffman, Mark

    2017-09-01

    The goal of cervical screening is to detect and treat precancers before some become cancer. We wanted to understand why, despite state-of-the-art methods, cervical cancers occured in relationship to programmatic performance at Kaiser Permanente Northern California (KPNC), where >1,000,000 women aged ≥30years have undergone cervical cancer screening by triennial HPV and cytology cotesting since 2003. We reviewed clinical histories preceding cervical cancer diagnoses to assign "causes" of cancer. We calculated surrogate measures of programmatic effectiveness (precancers/(precancers and cancers)) and diagnostic yield (precancers and cancers per 1000 cotests), overall and by age at cotest (30-39, 40-49, and ≥50years). Cancer was rare and found mainly in a localized (treatable) stage. Of 623 cervical cancers with at least one preceding or concurrent cotest, 360 (57.8%) were judged to be prevalent (diagnosed at a localized stage within one year or regional/distant stage within two years of the first cotest). Non-compliance with recommended screening and management preceded 9.0% of all cancers. False-negative cotests/sampling errors (HPV and cytology negative), false-negative histologic diagnoses, and treatment failures preceded 11.2%, 9.0%, and 4.3%, respectively, of all cancers. There was significant heterogeneity in the causes of cancer by histologic category (p<0.001 for all; p=0.002 excluding prevalent cases). Programmatic effectiveness (95.3%) and diagnostic yield were greater for squamous cell versus adenocarcinoma histology (p<0.0001) and both decreased with older ages (p trend <0.0001). A state-of-the-art intensive screening program results in very few cervical cancers, most of which are detected early by screening. Screening may become less efficient at older ages. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. [Pervasive developmental disorders screening program in the health areas of Salamanca and Zamora in Spain].

    García Primo, P; Santos Borbujo, J; Martín Cilleros, M V; Martínez Velarte, M; Lleras Muñoz, S; Posada de la Paz, M; Canal Bedia, R

    2014-05-01

    To evaluate the results of the Pervasive Developmental Disorders (PDD) screening program currently ongoing in the public health services in the health area of Salamanca and Zamora, Spain, in terms of feasibility, reliability and costs, with the purpose of extending the program at regional and national levels. A total of 54 paediatric teams (nurses and paediatricians) from the provinces of Salamanca and Zamora participated in the training sessions for the PDD Screening Programme in September 2005, and agreed to administer the questionnaire M-CHAT(1) to all parents attending their clinics in any of these two visits: 18 months and/or 24 months within the Well-baby Check-up Program. A total of 9,524 children have participated up to December 2012. Additionally, we evaluated the participation and opinions of the paediatric teams using questionnaires, and costs per positive case have estimated. Out of a total of 852 (8.9%) children determined as PDD high-risk with the M-CHAT questionnaire results, 61 (7.1%) were confirmed as positive with the M-CHAT follow-up interview. Of these, 22 were diagnosed with a PDD and 31 other disorders of childhood onset according to DSM-IV-TR(2). Almost three-quarters (74%) of respondents felt the program was totally feasible, and 22% viable, but with reservations (n=54). This study has been able to show for the first time in Spain, the feasibility of a population-based PDD screening program within the public health system. Training in social and communicative development, and dissemination of the early signs of PDD among paediatricians, as well as the use of the M-CHAT, is essential for progress in the early detection of these disorders. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  11. Genetic screening of Wnt signaling factors in advanced retinopathy of prematurity

    Hiraoka, Miki; Takahashi, Hiroshi; Orimo, Hideo; Hiraoka, Miina; Ogata, Tsutomu; Azuma, Noriyuki

    2010-01-01

    Purpose To evaluate the possibility of genetic involvement in retinopathy of prematurity (ROP). Although ROP is most often associated with low birthweight and low gestational age, these factors do not necessarily predict the severity of ROP. The possible involvement of other factors, including genetic variants, has been considered. Familial exudative vitreoretinopathy (FEVR) is a hereditary vitreoretinal disorder with clinical manifestations similar to those of ROP. Three genes involving the ...

  12. Decoding directional genetic dependencies through orthogonal CRISPR/Cas screens | Office of Cancer Genomics

    Genetic interaction studies are a powerful approach to identify functional interactions between genes. This approach can reveal networks of regulatory hubs and connect uncharacterized genes to well-studied pathways. However, this approach has previously been limited to simple gene inactivation studies. Here, we present an orthogonal CRISPR/Cas-mediated genetic interaction approach that allows the systematic activation of one gene while simultaneously knocking out a second gene in the same cell.

  13. A Novel Forward Genetic Screen for Identifying Mutations Affecting Larval Neuronal Dendrite Development in Drosophila melanogaster

    Medina, Paul Mark B.; Swick, Lance L.; Andersen, Ryan; Blalock, Zachary; Brenman, Jay E.

    2006-01-01

    Vertebrate and invertebrate dendrites are information-processing compartments that can be found on both central and peripheral neurons. Elucidating the molecular underpinnings of information processing in the nervous system ultimately requires an understanding of the genetic pathways that regulate dendrite formation and maintenance. Despite the importance of dendrite development, few forward genetic approaches have been used to analyze the latest stages of dendrite development, including the ...

  14. Maternal knowledge and attitudes to universal newborn hearing screening: Reviewing an established program.

    Lam, Maggie Yee Yan; Wong, Eddie Chi Ming; Law, Chi Wai; Lee, Helena Hui Ling; McPherson, Bradley

    2018-02-01

    To facilitate early diagnosis of infants with hearing loss, a universal newborn hearing screening program (UNHS) has been implemented in Hong Kong's public hospitals for over a decade. However, there have been no known studies investigating parent attitudes to, and satisfaction with, UNHS since its launch in Hong Kong. The present study aimed to investigate knowledge of UNHS as well as infant hearing development, and attitudes and satisfaction with UNHS, in Hong Kong mothers with newborns. The study was designed to help evaluate and improve an established UNHS public hospital program, based on the perspectives of service users. A researcher-developed questionnaire was administered to 102 mothers whose newborn had received UNHS in the postnatal wards of a large public hospital in Hong Kong. The questionnaire considered parental knowledge of UNHS and infant hearing development, attitudes and satisfaction toward public hospital UNHS. In the knowledge dimension, parents' preferred time and location for pre-test information delivery, interpretation of screening results, and knowledge of hearing developmental milestones were surveyed. In addition, maternal attitudes to and satisfaction with UNHS screening services, the potential impact of UNHS on parent emotions and parent-baby bonding, attitudes toward informed consent, and willingness to comply with diagnostic assessment referral were also be surveyed. Mean participant scores on knowledge of infant hearing development were relatively low (M = 2.59/6.0, SD = 0.90). Many mothers also underestimated the potential ongoing risks of hearing impairment in babies. Around 80% of mothers thought an infant could not have hearing impairment after passing the screening. In addition, one-third of mothers thought a baby could not later develop hearing impairment in infancy or childhood. In terms of attitudes and satisfaction, participants gave somewhat negative ratings for questions regarding receiving sufficient information

  15. Cost-effectiveness analysis of preimplantation genetic screening and in vitro fertilization versus expectant management in patients with unexplained recurrent pregnancy loss.

    Murugappan, Gayathree; Ohno, Mika S; Lathi, Ruth B

    2015-05-01

    To determine whether in vitro fertilization with preimplantation genetic screening (IVF/PGS) is cost effective compared with expectant management in achieving live birth for patients with unexplained recurrent pregnancy loss (RPL). Decision analytic model comparing costs and clinical outcomes. Academic recurrent pregnancy loss programs. Women with unexplained RPL. IVF/PGS with 24-chromosome screening and expectant management. Cost per live birth. The IVF/PGS strategy had a live-birth rate of 53% and a clinical miscarriage rate of 7%. Expectant management had a live-birth rate of 67% and clinical miscarriage rate of 24%. The IVF/PGS strategy was 100-fold more expensive, costing $45,300 per live birth compared with $418 per live birth with expectant management. In this model, IVF/PGS was not a cost-effective strategy for increasing live birth. Furthermore, the live-birth rate with IVF/PGS needs to be 91% to be cost effective compared with expectant management. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  16. Impact of digitalization of mammographic units on average glandular doses in the Flemish Breast Cancer Screening Program

    De Hauwere, An; Thierens, Hubert

    2012-01-01

    The impact of digitalization on the average glandular doses in 49 mammographic units participating in the Flemish Breast Cancer Screening Program was studied. Screen-film was changed to direct digital radiography and computed radiography in 25 and 24 departments respectively. Average glandular doses were calculated before and after digitalization for different PMMA-phantom thicknesses and for groups of 50 successive patients. For the transition from screen-film to computed radiography both ph...

  17. Pre-implantation genetic screening using fluorescence in situ hybridization in couples of Indian ethnicity: Is there a scope?

    Shailaja Gada Saxena

    2014-01-01

    Full Text Available Context: There is a high incidence of numerical chromosomal aberration in couples with repeated in vitro fertilization (IVF failure, advanced maternal age, repeated unexplained abortions, severe male factor infertility and unexplained infertility. Pre-implantation genetic screening (PGS, a variant of pre-implantation genetic diagnosis, screens numerical chromosomal aberrations in couples with normal karyotype, experiencing poor reproductive outcome. The present study includes the results of the initial pilot study on 9 couples who underwent 10 PGS cycles. Aim: The aim of the present study was to evaluate the beneficial effects of PGS in couples with poor reproductive outcome. Settings and Design: Data of initial 9 couples who underwent 10 PGS for various indications was evaluated. Subjects and Methods: Blastomere biopsy was performed on cleavage stage embryos and subjected to two round fluorescence in situ hybridization (FISH testing for chromosomes 13, 18, 21, X and Y as a two-step procedure. Results: Six of the 9 couples (10 PGS cycles conceived, including a twin pregnancy in a couple with male factor infertility, singleton pregnancies in a couple with secondary infertility, in three couples with adverse obstetric outcome in earlier pregnancies and in one couple with repeated IVF failure. Conclusion: In the absence of availability of array-comparative genomic hybridization in diagnostic clinical scenario for PGS and promising results with FISH based PGS as evident from the current pilot study, it is imperative to offer the best available services in the present scenario for better pregnancy outcome for patients.

  18. The Candidate Cancer Gene Database: a database of cancer driver genes from forward genetic screens in mice.

    Abbott, Kenneth L; Nyre, Erik T; Abrahante, Juan; Ho, Yen-Yi; Isaksson Vogel, Rachel; Starr, Timothy K

    2015-01-01

    Identification of cancer driver gene mutations is crucial for advancing cancer therapeutics. Due to the overwhelming number of passenger mutations in the human tumor genome, it is difficult to pinpoint causative driver genes. Using transposon mutagenesis in mice many laboratories have conducted forward genetic screens and identified thousands of candidate driver genes that are highly relevant to human cancer. Unfortunately, this information is difficult to access and utilize because it is scattered across multiple publications using different mouse genome builds and strength metrics. To improve access to these findings and facilitate meta-analyses, we developed the Candidate Cancer Gene Database (CCGD, http://ccgd-starrlab.oit.umn.edu/). The CCGD is a manually curated database containing a unified description of all identified candidate driver genes and the genomic location of transposon common insertion sites (CISs) from all currently published transposon-based screens. To demonstrate relevance to human cancer, we performed a modified gene set enrichment analysis using KEGG pathways and show that human cancer pathways are highly enriched in the database. We also used hierarchical clustering to identify pathways enriched in blood cancers compared to solid cancers. The CCGD is a novel resource available to scientists interested in the identification of genetic drivers of cancer. © The Author(s) 2014. Published by Oxford University Press on behalf of Nucleic Acids Research.

  19. Validation of Version 3.0 of the Breast Cancer Genetics Referral Screening Tool (B-RST™).

    Bellcross, Cecelia; Hermstad, April; Tallo, Christine; Stanislaw, Christine

    2018-05-08

    Despite increased awareness of hereditary breast and ovarian cancer among clinicians and the public, many BRCA1/2 mutation carriers remain unaware of their risk status. The Breast Cancer Genetics Referral Screening Tool (B-RST™) was created and validated to easily identify individuals at increased risk for hereditary breast and ovarian cancer for referral to cancer genetics services. The purpose of this study was to revise B-RST™ to maximize sensitivity against BRCA1/2 mutation status. We analyzed pedigrees of 277 individuals who had undergone BRCA1/2 testing to determine modifications to the B-RST™ 2.0 algorithm that would maximize sensitivity for mutations, while maintaining simplicity. We used McNemar's chi-square test to compare validation measures between the revised version (3.0) and the 2.0 version. Algorithmic changes made to B-RST™ 2.0 increased the sensitivity against BRCA1/2 mutation analysis from 71.1 to 94.0% (P 3.0 demonstrates high sensitivity for BRCA1/2 mutations, yet remains a simple and quick screening tool for at-risk individuals.

  20. The effectiveness of scoliosis screening programs: methods for systematic review and expert panel recommendations formulation

    2013-01-01

    Background Literature on scoliosis screening is vast, however because of the observational nature of available data and methodological flaws, data interpretation is often complex, leading to incomplete and sometimes, somewhat misleading conclusions. The need to propose a set of methods for critical appraisal of the literature about scoliosis screening, a comprehensive summary and rating of the available evidence appeared essential. Methods To address these gaps, the study aims were: i) To propose a framework for the assessment of published studies on scoliosis screening effectiveness; ii) To suggest specific questions to be answered on screening effectiveness instead of trying to reach a global position for or against the programs; iii) To contextualize the knowledge through expert panel consultation and meaningful recommendations. The general methodological approach proceeds through the following steps: Elaboration of the conceptual framework; Formulation of the review questions; Identification of the criteria for the review; Selection of the studies; Critical assessment of the studies; Results synthesis; Formulation and grading of recommendations in response to the questions. This plan follows at best GRADE Group (Grades of Recommendation, Assessment, Development and Evaluation) requirements for systematic reviews, assessing quality of evidence and grading the strength of recommendations. Conclusions In this article, the methods developed in support of this work are presented since they may be of some interest for similar reviews in scoliosis and orthopaedic fields. PMID:23883346

  1. Influencing Cancer Screening Participation Rates—Providing a Combined Cancer Screening Program (a ‘One Stop’ Shop Could Be a Potential Answer

    Amanda Bobridge

    2017-12-01

    Full Text Available IntroductionParticipation in established cancer screening programs remains variable. Therefore, a renewed focus on how to increase screening uptake, including addressing structural barriers such as time, travel, and cost is needed. One approach could be the provision of combined cancer screening, where multiple screening tests are provided at the same time and location (essentially a ‘One Stop’ screening shop. This cohort study explored both cancer screening behavior and the acceptability of a combined screening approach.MethodsParticipants of the North Western Adelaide Health Study (NWAHS, South Australia were invited to participate in a questionnaire about cancer screening behaviors and the acceptability of a proposed ‘One Stop’ cancer screening shop. Data were collected from 10th August 2015 to 18th January 2016, weighted for selection probability, age, and sex and analyzed using descriptive and multivariable logistic regression analysis.Results1,562 people, 52% female (mean age 54.1 years ± 15.2 participated. Reported screening participation was low, the highest being for Pap Smear (34.4%. Common reasons for screening participation were preventing sickness (56.1%, CI 53.2–59.0%, maintaining health (51%, CI 48–53.9%, and free program provision (30.9%, CI 28.2–33.6%. Females were less likely to state that screening is not beneficial [OR 0.37 (CI 0.21–0.66, p < 0.001] and to cite sickness prevention [OR 2.10 (CI 1.46–3.00, p < 0.001] and free program [OR 1.75 (CI 1.22–2.51, p < 0.003] as reasons for screening participation. Of those who did not participate, 34.6% (CI 30.3–39.1% stated that there was nothing that discouraged them from participation, with 55- to 64-year olds [OR 0.24 (CI 0.07–0.74, p < 0.04] being less likely to cite this reason. 21% (CI 17.2–24.8% thought they did not need screening, while a smaller proportion stated not having time (6.9%, CI 4.9–9.7% and the costs associated

  2. The potential use of genetics to increase the effectiveness of treatment programs for criminal offenders.

    Beaver, Kevin M; Jackson, Dylan B; Flesher, Dillon

    2014-01-01

    During the past couple of decades, the amount of research examining the genetic underpinnings to antisocial behaviors, including crime, has exploded. Findings from this body of work have generated a great deal of information linking genetics to criminal involvement. As a partial result, there is now a considerable amount of interest in how these findings should be integrated into the criminal justice system. In the current paper, we outline the potential ways that genetic information can be used to increase the effectiveness of treatment programs designed to reduce recidivism among offenders. We conclude by drawing attention to how genetic information can be used by rehabilitation programs to increase program effectiveness, reduce offender recidivism rates, and enhance public safety.

  3. Genetic programs can be compressed and autonomously decompressed in live cells

    Lapique, Nicolas; Benenson, Yaakov

    2018-04-01

    Fundamental computer science concepts have inspired novel information-processing molecular systems in test tubes1-13 and genetically encoded circuits in live cells14-21. Recent research has shown that digital information storage in DNA, implemented using deep sequencing and conventional software, can approach the maximum Shannon information capacity22 of two bits per nucleotide23. In nature, DNA is used to store genetic programs, but the information content of the encoding rarely approaches this maximum24. We hypothesize that the biological function of a genetic program can be preserved while reducing the length of its DNA encoding and increasing the information content per nucleotide. Here we support this hypothesis by describing an experimental procedure for compressing a genetic program and its subsequent autonomous decompression and execution in human cells. As a test-bed we choose an RNAi cell classifier circuit25 that comprises redundant DNA sequences and is therefore amenable for compression, as are many other complex gene circuits15,18,26-28. In one example, we implement a compressed encoding of a ten-gene four-input AND gate circuit using only four genetic constructs. The compression principles applied to gene circuits can enable fitting complex genetic programs into DNA delivery vehicles with limited cargo capacity, and storing compressed and biologically inert programs in vivo for on-demand activation.

  4. Parental Intentions to Enroll Children in a Voluntary Expanded Newborn Screening Program

    Paquin, Ryan S.; Peay, Holly L.; Gehtland, Lisa M.; Lewis, Megan A.; Bailey, Donald B.

    2016-01-01

    Background and Objectives Nearly all babies in the United States are tested at birth for rare, serious, and treatable disorders through mandatory state newborn screening (NBS). Recently, there have been calls for an expanded, voluntary model to facilitate early diagnosis and treatment of a wider range of disorders. We applied the reasoned action framework to examine parental intentions to participate in voluntary expanded screening. Methods We recruited a national cohort of recent and expectant parents living in the U.S. who completed a self-administered online survey (N = 1,001). Using a mixed-level fractional factorial experiment, we studied parental participation intentions and preferences for timing of consent, cost, consent format, and testing options. Results We conducted a hierarchical regression analysis assessing parental intentions to participate in voluntary expanded NBS. Attitudes, perceived normative influence, and perceived behavioral control explained substantial variance in intention, with perceived normative influence emerging as the strongest predictor. We found no evidence that the manipulated program features altered mean levels of intention, but timing of parental permission, cost, and permission format moderated the relative importance of reasoned action constructs on intention. Conclusion Program design features may impact the psychological mechanisms underlying parental decision making for voluntary expanded screening. These results have important implications for parent education, outreach, and informed parental permission procedures. PMID:27526258

  5. Parental intentions to enroll children in a voluntary expanded newborn screening program.

    Paquin, Ryan S; Peay, Holly L; Gehtland, Lisa M; Lewis, Megan A; Bailey, Donald B

    2016-10-01

    Nearly all babies in the United States are tested at birth for rare, serious, and treatable disorders through mandatory state newborn screening (NBS). Recently, there have been calls for an expanded, voluntary model to facilitate early diagnosis and treatment of a wider range of disorders. We applied the reasoned action framework to examine parental intentions to participate in voluntary expanded screening. We recruited a national cohort of recent and expectant parents living in the U.S. who completed a self-administered online survey (N = 1001). Using a mixed-level fractional factorial experiment, we studied parental participation intentions and preferences for timing of consent, cost, consent format, and testing options. We conducted a hierarchical regression analysis assessing parental intentions to participate in voluntary expanded NBS. Attitudes, perceived normative influence, and perceived behavioral control explained substantial variance in intention, with perceived normative influence emerging as the strongest predictor. We found no evidence that the manipulated program features altered mean levels of intention, but timing of parental permission, cost, and permission format moderated the relative importance of reasoned action constructs on intention. Program design features may impact the psychological mechanisms underlying parental decision making for voluntary expanded screening. These results have important implications for parent education, outreach, and informed parental permission procedures. Copyright © 2016 Elsevier Ltd. All rights reserved.

  6. Screening program for prostate cancer at a university hospital in eastern Saudi Arabia

    Taha, Saud A.; Kamal, Baher A.

    2005-01-01

    Implementation of a pilot screening program for prostate cancer among Saudi patients that would serve as a nucleus for a Kingdom-wide screening program. A prospective study on 1,213 Saudi males between 50-80 years of age who attended the Outpatient Department at King Fahd Hospital of King Faisal University, Al-Khobar, Kingdom of Saudi Arabia during a period of 18 months (April 2001-October 2002). They were included at random from different clinics including the urology clinic. Free and total prostate specific antigen (PSA) and digital rectal examination (DRE) of the prostate were performed in all patients. Patients with abnormal DRE or PSA were scheduled for transrectal ultrasound (TRUS) and ultrasound guided biopsy of the prostate. Abnormal DRE or PSA were present in 84 out of 1,213 patients. Only 63 patients agreed to have TRUS and ultrasound guided biopsies. Prostate cancer was confirmed in 14 out of 1,192 patients who completed the study (1.17%). The incidence of prostate cancer among Saudi men in this hospital based study is low. A population based screening for prostate cancer may reveal the incidence of this disease. (author)

  7. Genetic counseling for schizophrenia: a review of referrals to a provincial medical genetics program from 1968–2007

    Hunter, MJ; Hippman, Catriona; Honer, William G; Austin, Jehannine C.

    2014-01-01

    Purpose Recent studies have shown that individuals with schizophrenia and their family members are interested in genetic counseling, but few have received this service. We conducted an exploratory, retrospective study to describe (a) the population of individuals who were referred to the provincial program for genetic counseling for a primary indication of schizophrenia, and (b) trends in number of referrals between 1968 and 2007. Methods Referrals for a primary indication of schizophrenia were identified through the provincial program database. Charts were reviewed and the following information was recorded: discipline of referring physician, demographics, psychiatric diagnosis, referred individual’s and partner’s (if applicable) family history, and any current pregnancy history. Data were characterized using descriptive statistics. Results Between 1968 and 2007, 288 referrals were made for a primary indication of schizophrenia. Most referrals were made: (a) for individuals who had a first-degree family member with schizophrenia, rather than for affected individuals, (b) for preconception counseling, and (c) by family physicians (69%), with only 2% by psychiatrists. Conclusions In British Columbia, individuals affected with schizophrenia and their family members are rarely referred for psychiatric genetic counseling. There is a need to identify barriers to psychiatric genetic counseling and develop strategies to improve access. PMID:20034078

  8. Superior performance of liquid-based versus conventional cytology in a population-based cervical cancer screening program

    Beerman, H.; van Dorst, E. B. L.; Kuenen-Boumeester, V.; Hogendoorn, P. C. W.

    Objective. Liquid-based cytology may offer improvements over conventional cytology for cervical cancer screening. The two cytology techniques were compared in a group of 86,469 women who participated in a population-based screening program. Using a nation-wide pathology database containing both

  9. Detection of prostate cancer by an FDG-PET cancer screening program: results from a Japanese nationwide survey

    Minamimoto, Ryogo; Senda, Michio; Jinnouchi, Seishi; Terauchi, Takashi; Inoue, Tomio

    2014-01-01

    The aim of this study was to analyze detection rates and effectiveness of 18 F-fluorodeoxyglucose positron emission tomography (FDG-PET) cancer screening program for prostate cancer in Japan, which is defined as a cancer-screening program for subjects without known cancer. It contains FDG-PET aimed at detection of cancer at an early stage with or without additional screening tests such as prostate-specific antigen (PSA) and magnetic resonance imaging (MRI). A total of 92,255 asymptomatic men underwent the FDG-PET cancer screening program. Of these, 504 cases with findings of possible prostate cancer in any screening method were analyzed. Of the 504 cases, 165 were verified as having prostate cancer. Of these, only 61 cases were detected by FDG-PET, which result in 37.0% relative sensitivity and 32.8% positive predictive value (PPV). The sensitivity of PET/computed tomography (CT) scanner was higher than that of dedicated PET (44.0% vs. 20.4%). However, the sensitivity of FDG-PET was lower than that of PSA and pelvic MRI. FDG-PET did not contribute to improving the sensitivity and PPV when performed as combined screening. PSA should be included in FDG-PET cancer screening programs to screen for prostate cancer

  10. From Cancer Screening to Treatment: Service Delivery and Referral in the National Breast and Cervical Cancer Early Detection Program

    Miller, Jacqueline W.; Hanson, Vivien; Johnson, Gale D.; Royalty, Janet E.; Richardson, Lisa C.

    2015-01-01

    The National Breast and Cervical Cancer Early Detection Program (NBCCEDP) provides breast and cervical cancer screening and diagnostic services to low-income and underserved women through a network of providers and health care organizations. Although the program serves women 40-64 years old for breast cancer screening and 21-64 years old for cervical cancer screening, the priority populations are women 50-64 years old for breast cancer and women who have never or rarely been screened for cervical cancer. From 1991 through 2011, the NBCCEDP provided screening and diagnostic services to more than 4.3 million women, diagnosing 54,276 breast cancers, 2554 cervical cancers, and 123,563 precancerous cervical lesions. A critical component of providing screening services is to ensure that all women with abnormal screening results receive appropriate and timely diagnostic evaluations. Case management is provided to assist women with overcoming barriers that would delay or prevent follow-up care. Women diagnosed with cancer receive treatment through the states' Breast and Cervical Cancer Treatment Programs (a special waiver for Medicaid) if they are eligible. The NBCCEDP has performance measures that serve as benchmarks to monitor the completeness and timeliness of care. More than 90% of the women receive complete diagnostic care and initiate treatment less than 30 days from the time of their diagnosis. Provision of effective screening and diagnostic services depends on effective program management, networks of providers throughout the community, and the use of evidence-based knowledge, procedures, and technologies. PMID:25099897

  11. A genetic screen in Myxococcus xanthus identifies mutants that uncouple outer membrane exchange from a downstream cellular response.

    Dey, Arup; Wall, Daniel

    2014-12-01

    Upon physical contact with sibling cells, myxobacteria transiently fuse their outer membranes (OMs) and exchange OM proteins and lipids. From previous work, TraA and TraB were identified to be essential factors for OM exchange (OME) in donor and recipient cells. To define the genetic complexity of OME, we carried out a comprehensive forward genetic screen. The screen was based on the observation that Myxococcus xanthus nonmotile cells, by a Tra-dependent mechanism, block swarm expansion of motile cells when mixed. Thus, mutants defective in OME or a downstream responsive pathway were readily identified as escape flares from mixed inocula seeded on agar. This screen was surprisingly powerful, as we found >50 mutants defective in OME. Importantly, all of the mutations mapped to the traAB operon, suggesting that there may be few, if any, proteins besides TraA and TraB directly required for OME. We also found a second and phenotypically different class of mutants that exhibited wild-type OME but were defective in a responsive pathway. This pathway is postulated to control inner membrane homeostasis by covalently attaching amino acids to phospholipids. The identified proteins are homologous to the Staphylococcus aureus MprF protein, which is involved in membrane adaptation and antibiotic resistance. Interestingly, we also found that a small number of nonmotile cells were sufficient to block the swarming behavior of a large gliding-proficient population. This result suggests that an OME-derived signal could be amplified from a few nonmotile producers to act on many responder cells. Copyright © 2014, American Society for Microbiology. All Rights Reserved.

  12. Comparative performance of modern digital mammography systems in a large breast screening program

    Yaffe, Martin J., E-mail: martin.yaffe@sri.utoronto.ca; Bloomquist, Aili K.; Hunter, David M.; Mawdsley, Gordon E. [Physical Sciences Division, Sunnybrook Research Institute, Departments of Medical Biophysics and Medical Imaging, University of Toronto, Ontario M4N 3M5 (Canada); Chiarelli, Anna M. [Prevention and Cancer Control, Cancer Care Ontario, Dalla Lana School of Public Health, University of Toronto, Ontario M4N 3M5, Canada and Ontario Breast Screening Program, Cancer Care Ontario, Toronto, Ontario M5G 1X3 (Canada); Muradali, Derek [Ontario Breast Screening Program, Cancer Care Ontario, Toronto, Ontario M5G 1X3 (Canada); Mainprize, James G. [Physical Sciences Division, Sunnybrook Research Institute, Toronto, Ontario M4N 3M5 (Canada)

    2013-12-15

    Purpose: To compare physical measures pertaining to image quality among digital mammography systems utilized in a large breast screening program. To examine qualitatively differences in these measures and differences in clinical cancer detection rates between CR and DR among sites within that program. Methods: As part of the routine quality assurance program for screening, field measurements are made of several variables considered to correlate with the diagnostic quality of medical images including: modulation transfer function, noise equivalent quanta, d′ (an index of lesion detectability) and air kerma to allow estimation of mean glandular dose. In addition, images of the mammography accreditation phantom are evaluated. Results: It was found that overall there were marked differences between the performance measures of DR and CR mammography systems. In particular, the modulation transfer functions obtained with the DR systems were found to be higher, even for larger detector element sizes. Similarly, the noise equivalent quanta, d′, and the phantom scores were higher, while the failure rates associated with low signal-to-noise ratio and high dose were lower with DR. These results were consistent with previous findings in the authors’ program that the breast cancer detection rates at sites employing CR technology were, on average, 30.6% lower than those that used DR mammography. Conclusions: While the clinical study was not large enough to allow a statistically powered system-by-system assessment of cancer detection accuracy, the physical measures expressing spatial resolution, and signal-to-noise ratio are consistent with the published finding that sites employing CR systems had lower cancer detection rates than those using DR systems for screening mammography.

  13. [Using value of information analysis in decision making about applied research. The case of genetic screening for hemochromatosis in Germany].

    Rogowski, W H; Grosse, S D; Meyer, E; John, J; Palmer, S

    2012-05-01

    Public decision makers face demands to invest in applied research in order to accelerate the adoption of new genetic tests. However, such an investment is profitable only if the results gained from further investigations have a significant impact on health care practice. An upper limit for the value of additional information aimed at improving the basis for reimbursement decisions is given by the expected value of perfect information (EVPI). This study illustrates the significance of the concept of EVPI on the basis of a probabilistic cost-effectiveness model of screening for hereditary hemochromatosis among German men. In the present example, population-based screening can barely be recommended at threshold values of 50,000 or 100,000 Euro per life year gained and also the value of additional research which might cause this decision to be overturned is small: At the mentioned threshold values, the EVPI in the German public health care system was ca. 500,000 and 2,200,000 Euro, respectively. An analysis of EVPI by individual parameters or groups of parameters shows that additional research about adherence to preventive phlebotomy could potentially provide the highest benefit. The potential value of further research also depends on methodological assumptions regarding the decision maker's time horizon as well as on scenarios with an impact on the number of affected patients and the cost-effectiveness of screening.

  14. [Evaluations of newborn screening program performance and enzymatic diagnosis of glucose-6-phosphate dehydrogenase deficiency in Guangzhou].

    Tang, F; Huang, Y L; Jiang, X; Jia, X F; Li, B; Feng, Y; Chen, Q Y; Tang, C F

    2018-05-02

    Objective: To reveal the molecular epidemiologic characteristics of glucose-6-phosphate dehydrogenase (G6PD) gene and to evaluate based on the genetic analysis the newborn screening program performance and enzymatic diagnosis of G6PD deficiency in Guangzhou. Methods: G6PD enzyme activities were measured by quantitative fluorescence assay in dry blood spots of 16 319 newborns(8 725 males, 7 594 females) 3-7 days after birth in Guangzhou Newborn Center. They were born in Guangzhou form Oct. 1 to 20, 2016. The cutoff value of G6PD was less than 2.6 U/g Hb in dry blood spots. G6PD deficiency was diagnosed when G6PDblood cells. Genetic analysis of G6PD gene was performed on the dry blood spot samples of 823 newborns (including positive 346, negative 477)with various levels of G6PD enzyme activities through fluorescence PCR melting curve analysis(FMCA) to detect 15 kinds of mutations reported to be common among Chinese.G6PD gene Sanger sequency was performed in seven highly suspicious patients with negative results by FMCA. Results: (1) Using the cutoff value of G6PDT, c.551C>T, c.835A>T hemizygote were found in 3 male's samples, respectively. (3) The estimated prevalence of harboring mutation was 6.0% in males and 13.5% in females according to rates of mutation in samples with various levels of G6PD enzyme activities. Six common mutations were c.1388G>A、c.1376G>T, c.95A> G, c.871G>A, c.1024C>T, c.392G>T, accounting for 95.5% of detected alleles .(4) based on results of G6PD gene analysis, the newborn scereening of G6PD deficiency with cutoff value G6PDblood cells were 95.5%, 97.2%, respectively. Conclusions: The prevalence of G6PD deficiency in males was 6.0% in Guangzhou. Six mutations c.1388G>A, c.1376G>T, c.95A>G, c.871G>A, c.1024C>T, c.392G>T accounted for 95.5%. The cutoff value of G6PD<2.6 U/g Hb innewborn screening program and the criteria of biochemical diagnosis could accurately identify G6PD deficiency . Combined with biochemical and molecular analysis will

  15. Effects and Costs of Breast Cancer screening in women with a familial or genetic predisposition

    A.J. Rijnsburger (Rian)

    2005-01-01

    textabstract"Women with a BRCA1 or BRCA2 mutation, who have a considerable increased risk of developing breast cancer, now face the choice of intensive screening, prophylactic surgery or chemoprevention. The efficacy of the various medical options and the durability of its effects are of major

  16. Development of a qualitative, multiplex real-time PCR kit for screening of genetically modified organisms (GMOs).

    Dörries, Hans-Henno; Remus, Ivonne; Grönewald, Astrid; Grönewald, Cordt; Berghof-Jäger, Kornelia

    2010-03-01

    The number of commercially available genetically modified organisms (GMOs) and therefore the diversity of possible target sequences for molecular detection techniques are constantly increasing. As a result, GMO laboratories and the food production industry currently are forced to apply many different methods to reliably test raw material and complex processed food products. Screening methods have become more and more relevant to minimize the analytical effort and to make a preselection for further analysis (e.g., specific identification or quantification of the GMO). A multiplex real-time PCR kit was developed to detect the 35S promoter of the cauliflower mosaic virus, the terminator of the nopaline synthase gene of Agrobacterium tumefaciens, the 35S promoter from the figwort mosaic virus, and the bar gene of the soil bacterium Streptomyces hygroscopicus as the most widely used sequences in GMOs. The kit contains a second assay for the detection of plant-derived DNA to control the quality of the often processed and refined sample material. Additionally, the plant-specific assay comprises a homologous internal amplification control for inhibition control. The determined limits of detection for the five assays were 10 target copies/reaction. No amplification products were observed with DNAs of 26 bacterial species, 25 yeasts, 13 molds, and 41 not genetically modified plants. The specificity of the assays was further demonstrated to be 100% by the specific amplification of DNA derived from reference material from 22 genetically modified crops. The applicability of the kit in routine laboratory use was verified by testing of 50 spiked and unspiked food products. The herein described kit represents a simple and sensitive GMO screening method for the reliable detection of multiple GMO-specific target sequences in a multiplex real-time PCR reaction.

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

    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

  18. Cost of the Cervical Cancer Screening Program at the Mexican Social Security Institute

    Víctor Granados-García

    2014-09-01

    Full Text Available Objective. To estimate the annual cost of the National Cervical Cancer Screening Program (CCSP of the Mexican Institute of Social Security (IMSS. Materials and methods. This cost analysis examined regional coverage rates reported by IMSS. We estimated the number of cytology, colposcopy, biopsy and pathology evaluations, as well as the diagnostic test and treatment costs for cervical intraepithelial neoplasia grade II and III (CIN 2/3 and cervical cancer. Diagnostic test costs were estimated using a micro-costing technique. Sensitivity analyses were performed. Results. The cost to perform 2.7 million cytology tests was nearly 38 million dollars, which represents 26.1% of the total program cost (145.4 million. False negatives account for nearly 43% of the program costs. Conclusion. The low sensitivity of the cytology test generates high rates of false negatives, which results in high institutional costs from the treatment of undetected cervical cancer cases.

  19. Establishing and Sustaining a Prospective Screening Program for Breast Cancer-Related Lymphedema at the Massachusetts General Hospital: Lessons Learned

    Cheryl Brunelle

    2015-05-01

    Full Text Available There has been an increasing call to prospectively screen patients with breast cancer for the development of breast cancer-related lymphedema (BCRL following their breast cancer treatment. While the components of a prospective screening program have been published, some centers struggle with how to initiate, establish, and sustain a screening program of their own. The intent of this manuscript is to share our experience and struggles in establishing a prospective surveillance program within the infrastructure of our institution. It is our hope that by sharing our history other centers can learn from our mistakes and successes to better design their own prospective screening program to best serve their patient population.

  20. Quality control in screening programs for cervical cancer; Control de la calidad en los programas de pesquisa de cancer cervicouterino

    Sarduy Napoles, Miguel, E-mail: miguel.sarduy@infomed.sld.cu [Centro de Investigaciones Medico Quirurgicas, La Habana (Cuba)

    2012-07-01

    The malignancy of the cervix is one of the few locations avoidable cancers, if detected before it progresses to the infiltration. The most efficient way of early detection is through a screening program to provide women undertaking a regular and quality Pap smear. If this test results abnormal, the program offers easier access to specialized care, effective treatment, and follow-up. The objective of this article is to present usefulness of methods for quality control used in screening programs for cervical cancer to detect their inadequacies. Here are some factors and conditions that must be considered in each of the steps to take, for a cervical cancer screening program to be successful and to meet the objectives proposed in reducing mortality due to this cause. This document contains some useful indexes calculated to ensure quality throughout the process. There should be the measurement of quality throughout the screening process that allows collecting of reliable data as well as correcting deficiencies

  1. Results of National Colorectal Cancer Screening Program in Croatia (2007-2011).

    Katičić, Miroslava; Antoljak, Nataša; Kujundžić, Milan; Stamenić, Valerija; Skoko Poljak, Dunja; Kramarić, Danica; Stimac, Davor; Strnad Pešikan, Marija; Samija, Mirko; Ebling, Zdravko

    2012-08-28

    To study the epidemiologic indicators of uptake and characteristic colonoscopic findings in the Croatian National Colorectal Cancer Screening Program. Colorectal cancer (CRC) was the second leading cause of cancer mortality in men (n = 1063, 49.77/100,000), as well as women (n = 803, 34.89/100,000) in Croatia in 2009. The Croatian National CRC Screening Program was established by the Ministry of Health and Social Welfare, and its implementation started in September, 2007. The coordinators were recruited in each county institute of public health with an obligation to provide fecal occult blood testing (FOBT) to the participants, followed by colonoscopy in all positive cases. The FOBT was performed by hypersensitive guaiac-based Hemognost card test (Biognost, Zagreb). The test and short questionnaire were delivered to the home addresses of all citizens aged 50-74 years consecutively during a 3-year period. Each participant was required to complete the questionnaire and send it together with the stool specimen on three test cards back to the institute for further analysis. About 4% FOBT positive cases are expected in normal risk populations. A descriptive analysis was performed. A total of 1,056,694 individuals (born between 1933-1945 and 1952-1957) were invited to screening by the end of September 2011. In total, 210,239 (19.9%) persons returned the envelope with a completed questionnaire, and 181,102 of them returned it with a correctly placed stool specimen on FOBT cards. Until now, 12,477 (6.9%), FOBT-positive patients have been found, which is at the upper limit of the expected values in European Guidelines for Quality Assurance in CRC Screening and Diagnosis [European Union (EU) Guidelines]. Colonoscopy was performed in 8541 cases (uptake 66%). Screening has identified CRC in 472 patients (5.5% of colonoscopied, 3.8% of FOBT-positive, and 0.26% of all screened individuals). This is also in the expected range according to EU Guidelines. Polyps were found and

  2. Results of National Colorectal Cancer Screening Program in Croatia (2007-2011)

    Katičić, Miroslava; Antoljak, Nataša; Kujundžić, Milan; Stamenić, Valerija; Skoko Poljak, Dunja; Kramarić, Danica; Štimac, Davor; Strnad Pešikan, Marija; Šamija, Mirko; Ebling, Zdravko

    2012-01-01

    AIM: To study the epidemiologic indicators of uptake and characteristic colonoscopic findings in the Croatian National Colorectal Cancer Screening Program. METHODS: Colorectal cancer (CRC) was the second leading cause of cancer mortality in men (n = 1063, 49.77/100  000), as well as women (n = 803, 34.89/100  000) in Croatia in 2009. The Croatian National CRC Screening Program was established by the Ministry of Health and Social Welfare, and its implementation started in September, 2007. The coordinators were recruited in each county institute of public health with an obligation to provide fecal occult blood testing (FOBT) to the participants, followed by colonoscopy in all positive cases. The FOBT was performed by hypersensitive guaiac-based Hemognost card test (Biognost, Zagreb). The test and short questionnaire were delivered to the home addresses of all citizens aged 50-74 years consecutively during a 3-year period. Each participant was required to complete the questionnaire and send it together with the stool specimen on three test cards back to the institute for further analysis. About 4% FOBT positive cases are expected in normal risk populations. A descriptive analysis was performed. RESULTS: A total of 1  056  694 individuals (born between 1933-1945 and 1952-1957) were invited to screening by the end of September 2011. In total, 210  239 (19.9%) persons returned the envelope with a completed questionnaire, and 181 102 of them returned it with a correctly placed stool specimen on FOBT cards. Until now, 12  477 (6.9%), FOBT-positive patients have been found, which is at the upper limit of the expected values in European Guidelines for Quality Assurance in CRC Screening and Diagnosis [European Union (EU) Guidelines]. Colonoscopy was performed in 8541 cases (uptake 66%). Screening has identified CRC in 472 patients (5.5% of colonoscopied, 3.8% of FOBT-positive, and 0.26% of all screened individuals). This is also in the expected range

  3. Follow-up of abnormal or inadequate test results in the Danish Cervical Cancer Screening Program

    Kristiansen, Bettina Kjær

    2014-01-01

    Denmark has a higher incidence of cervical cancer than other Nordic countries, although all Danish women (aged 23–65) are screened regularly to identify possible cervical dysplasia or asymptomatic invasive cancer. Annually 40 000 women receives an abnormal or inadequate test result and a follow......-up recommendation. However problems with delayed follow-up may threaten the effectiveness of the Danish Cervical Cancer Screening Program, as 20% of women are delayed and dysplasia potentially can progress into cancer. Delayed follow-up is found in situations where women either consciously or unconsciously postpone...... up will be sent to the women (RCT). The intention is to ensure that all women will be notified about the test result, quickly, homogenously and in layman’s written language, still with the opportunity to contact or be contacted by the GP, if there is special needs. Furthermore, it is assumed that GP...

  4. Artificial intelligence programming with LabVIEW: genetic algorithms for instrumentation control and optimization.

    Moore, J H

    1995-06-01

    A genetic algorithm for instrumentation control and optimization was developed using the LabVIEW graphical programming environment. The usefulness of this methodology for the optimization of a closed loop control instrument is demonstrated with minimal complexity and the programming is presented in detail to facilitate its adaptation to other LabVIEW applications. Closed loop control instruments have variety of applications in the biomedical sciences including the regulation of physiological processes such as blood pressure. The program presented here should provide a useful starting point for those wishing to incorporate genetic algorithm approaches to LabVIEW mediated optimization of closed loop control instruments.

  5. Recommendations for cervical cancer screening programs in developing countries: the need for equity and technological development

    Lazcano-Ponce Eduardo

    2003-01-01

    Full Text Available The cervical cancer screening programs (CCSP have not been very efficient in the developing countries. This explains the need to foster changes on policies, standards, quality control mechanisms, evaluation and integration of new screening alternatives considered as low and high cost, as well as to regulate colposcopy practices and the foundation of HPV laboratories. Cervical cancer (CC is a disease most frequently found in poverty-stricken communities and reflecting a problem of equity at both levels gender and regional, and this, is not only due to social and economic development inequalities, but to the infrastructure and human resources necessary for primary care. For this reason, the CCSP program must be restructured, a to primarily address unprivileged rural and urban areas; b to foster actions aimed at ensuring extensive coverage as well as a similar quality of that coverage in every region; c to use screening strategies in keeping with the availability of health care services. In countries with a great regional heterogeneity, a variety of screening procedures must be regulated and standardized, including a combination of assisted visual inspection, cervical cytology and HPV detection; d regional community intervention must be set up to assess the effectiveness of using HPV detection as an strategy in addition to cervical cytology (pap smear; e the practice of colposcopy must be regulated to prevent the use of it in healthy women at a population level, thus preventing unnecessary diagnosis and treatment which not only are expensive but also causes unnecessary anxiety to women at risk; f the operation of those clinical laboratories using HPV as a detection strategy must likewise be accredited and regulated and g the CCSP program for assuring health care quality should meet the expectations of its beneficiaries, and increase the knowledge in cervical cancer related matters. Finally, though a variety of clinical tests on prophylactic and

  6. Colorectal cancer screening: results of a 5-year program in asymptomatic subjects at increased risk.

    Pezzoli, A; Matarese, V; Rubini, M; Simoni, M; Caravelli, G C; Stockbrugger, R; Cifalà, V; Boccia, S; Feo, C; Simone, L; Trevisani, L; Liboni, A; Gullini, S

    2007-01-01

    The province of Ferrara has one of the highest incidences of colorectal cancer (CRC) in Italy. In January 2000, we set up a colonoscopy screening program focussing on first-degree relatives of CRC patients. We now report the results 5 years after the beginning of the project. SCREENEES AND METHODS: In October 1999, we started a campaign stressing the usefulness of colonoscopy for the first-degree relatives of CRC patients. Subjects included in the screening program were aged between 45 and 75 years with at least one first-degree relative affected by CRC. They were invited to an interview where a physician suggested colonoscopy as a screening option. In 5 years, 776 subjects were interviewed and 733 (94.4%) agreed to an endoscopic examination (M/F:375/401; mean age 55 years): 562 colonoscopies were performed. Adenomas and cancers were found in 122 (21.7%) and 12 (2.1%) subjects, respectively. Histological examination in 181 persons with lesions (32.8%) showed (most serious lesion quoted) 47 hyperplastic polyps (26% of all lesions), 2 serrated adenomas (1.1%), 68 tubular adenomas (48%), 24 tubulovillous adenomas (13.3%), 9 adenomas with high grade dysplasia (5%) and 12 adenocarcinomas (6.6%). The majority of the cancers were at an early stage (8 Dukes A and 3 Dukes B). Sedation was used in only 42 colonoscopies (7.5%). A colonoscopy-based screening in this selected high-risk population is feasible. Even without sedation subjects readily agreed to the endoscopic procedure. We identified a significant number of advanced neoplasms and cancers at an early stage suggesting that this could be a useful tool in early identification of CRC.

  7. High prevalence of bronchiectasis in adults. Analysis of CT findings in a health screening program

    Kwak, Hyun-Jung; Moon, Ji-Yong; Choi, Vo-Won; Kim, Tae-Hyung; Sohn, Jang-Won; Yoon, Ho-Joo; Shin, Dong-Ho; Park, Sung-Soo; Kim, Sang-Heon

    2010-01-01

    Bronchiectasis is one of the common chronic respiratory diseases and associated with respiratory morbidity and mortality. However, neither its prevalence nor its etiology is well-defined. We aimed to estimate the prevalence and risk factors of bronchiectasis in adults. In a retrospective study, we analyzed radiologic findings on chest computed tomography (CT) images performed as part of a health-screening program. From January to December 2008, 1,409 (24.6%) of 5,727 participants in the screening program of a health promotion center at a university hospital underwent chest CT scans based on the subject's decision. Bronchiectasis was diagnosed, if there was abnormal bronchial dilatation in any area of both lungs on chest CT. Respiratory symptoms, smoking status, and past medical history were also analyzed to define clinical characteristics and risk factors of bronchiectasis. Of 1,409 patients (aged 23-86 years), who were screened for respiratory diseases using chest CT for one year in a health promotion center, 129 patients (9.1%) were diagnosed with bronchiectasis. The prevalence of bronchiectasis was higher in females than in males (11.5% vs. 7.9%, p=0.022) and increased with age. Respiratory symptoms were reported in 53.7% of subjects. Previous history of tuberculosis (TB) (odds ratio (OR) 4.61, 95% confidence interval (Cl) 2.39-8.88, p=0.001) and age (OR 2.49, 95% Cl 1.56-3.98, p=0.001) were significantly associated with bronchiectasis. This retrospective analysis of chest CT findings in health screening examinees revealed a very high prevalence of bronchiectasis in adults. Previous TB infection is one of the major causes of bronchiectasis. (author)

  8. Sensorineural and conductive hearing loss in infants diagnosed in the program of universal newborn hearing screening.

    Wroblewska-Seniuk, Katarzyna; Dabrowski, Piotr; Greczka, Grazyna; Szabatowska, Katarzyna; Glowacka, Agata; Szyfter, Witold; Mazela, Jan

    2018-02-01

    The aim of this study was to analyze infants diagnosed with sensorineural or conductive hearing deficit and to identify risk factors associated with these defects. A retrospective analysis of infants diagnosed with hearing deficit based on the database of the universal newborn hearing screening program and medical records of the patients. 27 935 infants were covered by the universal neonatal hearing screening program. 109 (0.39%) were diagnosed with hearing deficit and referred for treatment and rehabilitation. 56 (51.4%) children were diagnosed with conductive, 38 (34.9%) with sensorineural and 15 (13.8%) with mixed type of hearing deficit. Children with sensorineural hearing deficit more frequently suffered from hyperbilirubinemia (p conductive hearing loss were more frequently diagnosed with isolated craniofacial anomalies (p hearing deficit occurred almost 3 times more often bilaterally than unilaterally (p hearing deficit, the difference was not significant. In children with conductive and mixed type of hearing loss the impairment was mainly mild while among those with sensorineural hearing deficit in almost 45% it was severe and profound (p hearing screening test by means of otoacoustic emissions and the final diagnosis of hearing deficit we found that the highest agreement rate was observed in children with sensorineural hearing loss (p hearing deficit was similar in children with sensorineural, conductive and mixed type of hearing loss, only hyperbilirubinemia seemed to predispose to sensorineural hearing deficit and isolated craniofacial malformations seemed to be associated with conductive hearing loss. Sensorineural hearing deficit usually occurred bilaterally and was severe or profound, while conductive and mixed type of hearing deficit were most often of mild degree. Most children with the final diagnosis of sensorineural hearing deficit had positive result of hearing screening by means of otoacoustic emissions. Copyright © 2017 Elsevier B.V. All

  9. Detection of Glaucoma and Its Association With Diabetic Retinopathy in a Diabetic Retinopathy Screening Program.

    Gangwani, Rita A; McGhee, Sarah M; Lai, Jimmy S M; Chan, Christina K W; Wong, David

    2016-01-01

    To determine the type of glaucoma in subjects with diabetes mellitus detected during a diabetic retinopathy screening program and to determine any association between diabetic retinopathy (DR) and glaucoma. This is a population-based prospective cross-sectional study, in which subjects with diabetes mellitus underwent screening for DR in a primary care outpatient clinic. Digital fundus photographs were taken and graded for presence/absence and severity of DR. During this grading, those fundus photographs showing increased cup-to-disc ratio (CDR) (≥0.6) were identified and these patients were referred to the specialist ophthalmology clinic for detailed examination. The presence of glaucoma was established based on CDR and abnormal visual field (VF) defects according to Hodapp-Parrish-Anderson's criteria. An elevation of intraocular pressure was not required for the diagnosis of glaucoma. The patients said to have definite glaucoma were those with vertical CDR>/=0.6, glaucomatous defects on VF examination, or retinal nerve fiber thinning if VF was unreliable. Of the 2182 subjects who underwent screening, 81 subjects (3.7%) had increased CDR and 40 subjects (1.8%) had confirmed glaucoma. Normal-tension variant of primary open-angle glaucoma was the most prevalent type (1.2%) We did not find any evidence that DR is a risk factor for glaucoma [odds ratio for DR vs. no DR=1.22 (95% confidence interval, 0.59-2.51)]. The overall prevalence of glaucoma in this diabetic population, based on finding increased cupping of optic disc in a teleretinal screening program was 1.8% (95% confidence interval, 1.0-3.0).

  10. Routine human-competitive machine intelligence by means of genetic programming

    Koza, John R.; Streeter, Matthew J.; Keane, Martin

    2004-01-01

    Genetic programming is a systematic method for getting computers to automatically solve a problem. Genetic programming starts from a high-level statement of what needs to be done and automatically creates a computer program to solve the problem. The paper demonstrates that genetic programming (1) now routinely delivers high-return human-competitive machine intelligence; (2) is an automated invention machine; (3) can automatically create a general solution to a problem in the form of a parameterized topology; and (4) has delivered a progression of qualitatively more substantial results in synchrony with five approximately order-of-magnitude increases in the expenditure of computer time. Recent results involving the automatic synthesis of the topology and sizing of analog electrical circuits and controllers demonstrate these points.

  11. Diabetes-related symptoms and negative mood in participants of a targeted population-screening program for type 2 diabetes: the Hoorn screening study

    Adriaanse, M.C.; Dekker, J.M.; Spijkerman, A.M.W.; Twisk, J.W.R.; Nijpels, M.G.A.A.M.; van der Ploeg, H.M.; Heine, R.J.; Snoek, F.J.

    2005-01-01

    Objective: To determine the level of diabetes-related symptom distress and its association with negative mood in subjects participating in a targeted population-screening program, comparing those identified as having type 2 diabetes vs. those who did not. Research design and methods: This study was

  12. Adherence to cancer screening guidelines and predictors of improvement among participants in the Kansas State Employee Wellness Program.

    Hui, Siu-kuen Azor; Engelman, Kimberly K; Shireman, Theresa I; Ellerbeck, Edward F

    2013-07-11

    Employee wellness programs (EWPs) have been used to implement worksite-based cancer prevention and control interventions. However, little is known about whether these programs result in improved adherence to cancer screening guidelines or how participants' characteristics affect subsequent screening. This study was conducted to describe cancer screening behaviors among participants in a state EWP and identify factors associated with screening adherence among those who were initially nonadherent. We identified employees and their dependents who completed health risk assessments (HRAs) as part of the Kansas state EWP in both 2008 and 2009. We examined baseline rates of adherence to cancer screening guidelines in 2008 and factors associated with adherence in 2009 among participants who were initially nonadherent. Of 53,095 eligible participants, 13,222 (25%) participated in the EWP in 2008 and 6,205 (12%) participated in both years. Among the multiyear participants, adherence was high at baseline to screening for breast (92.5%), cervical (91.8%), and colorectal cancer (72.7%). Of participants who were initially nonadherent in 2008, 52.4%, 41.3%, and 33.5%, respectively, became adherent in the following year to breast, cervical, and colorectal cancer screening. Suburban/urban residence and more frequent doctor visits predicted adherence to breast and colorectal cancer screening guidelines. The effectiveness of EWPs for increasing cancer screening is limited by low HRA participation rates, high rates of adherence to screening at baseline, and failure of nonadherent participants to get screening. Improving overall adherence to cancer screening guidelines among employees will require efforts to increase HRA participation, stronger interventions for nonadherent participants, and better access to screening for rural employees.

  13. A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

    Bowl, Michael R.; Simon, Michelle M.; Ingham, Neil J.

    2017-01-01

    The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human genetic syndromes with a hearing loss component. O...

  14. Parkinson's and Alzheimer's diseases in Costa Rica: a feasibility study toward a national screening program.

    Wesseling, Catharina; Román, Norbel; Quirós, Indiana; Páez, Laura; García, Vilma; Mora, Ana María; Juncos, Jorge L; Steenland, Kyle N

    2013-12-27

    will increase test specificity and reduce administration time. A routine screening program is feasible within the public healthcare system of Costa Rica.

  15. Forecasting Shaharchay River Flow in Lake Urmia Basin using Genetic Programming and M5 Model Tree

    S. Samadianfard

    2017-01-01

    Full Text Available Introduction: Precise prediction of river flows is the key factor for proper planning and management of water resources. Thus, obtaining the reliable methods for predicting river flows has great importance in water resource engineering. In the recent years, applications of intelligent methods such as artificial neural networks, fuzzy systems and genetic programming in water science and engineering have been grown extensively. These mentioned methods are able to model nonlinear process of river flows without any need to geometric properties. A huge number of studies have been reported in the field of using intelligent methods in water resource engineering. For example, Noorani and Salehi (23 presented a model for predicting runoff in Lighvan basin using adaptive neuro-fuzzy network and compared the performance of it with neural network and fuzzy inference methods in east Azerbaijan, Iran. Nabizadeh et al. (21 used fuzzy inference system and adaptive neuro-fuzzy inference system in order to predict river flow in Lighvan river. Khalili et al. (13 proposed a BL-ARCH method for prediction of flows in Shaharchay River in Urmia. Khu et al. (16 used genetic programming for runoff prediction in Orgeval catchment in France. Firat and Gungor (11 evaluated the fuzzy-neural model for predicting Mendes river flow in Turkey. The goal of present study is comparing the performance of genetic programming and M5 model trees for prediction of Shaharchay river flow in the basin of Lake Urmia and obtaining a comprehensive insight of their abilities. Materials and Methods: Shaharchay river as a main source of providing drinking water of Urmia city and agricultural needs of surrounding lands and finally one of the main input sources of Lake Urmia is quite important in the region. For obtaining the predetermined goals of present study, average monthly flows of Shaharchay River in Band hydrometric station has been gathered from 1951 to 2011. Then, two third of mentioned

  16. A screening program to test and treat for Helicobacter pylori infection: Cost-utility analysis by age, sex and ethnicity

    Andrea M. Teng

    2017-02-01

    Full Text Available Abstract Background The World Health Organization recommends all countries consider screening for H. pylori to prevent gastric cancer. We therefore aimed to estimate the cost-effectiveness of a H. pylori serology-based screening program in New Zealand, a country that includes population groups with relatively high gastric cancer rates. Methods A Markov model was developed using life-tables and morbidity data from a national burden of disease study. The modelled screening program reduced the incidence of non-cardia gastric cancer attributable to H. pylori, if infection was identified by serology screening, and for the population expected to be reached by the screening program. A health system perspective was taken and detailed individual-level costing data was used. Results For adults aged 25–69 years old, nation-wide screening for H. pylori was found to have an incremental cost of US$196 million (95% uncertainty interval [95% UI]: $182–$211 million with health gains of 14,200 QALYs (95% UI: 5,100–26,300. Cost per QALY gained was US$16,500 ($7,600–$38,400 in the total population and 17% (6%-29% of future gastric cancer cases could be averted with lifetime follow-up. A targeted screening program for Māori only (indigenous population, was more cost-effective at US$8,000 ($3,800–$18,500 per QALY. Conclusions This modeling study found that H. pylori screening was likely to be cost-effective in this high-income country, particularly for the indigenous population. While further research is needed to help clarify the precise benefits, costs and adverse effects of such screening programs, there seems a reasonable case for policy-makers to give pilot programs consideration, particularly for any population groups with relatively elevated rates of gastric cancer.

  17. Implementing and evaluating a program to facilitate chronic disease prevention and screening in primary care: a mixed methods program evaluation.

    Manca, Donna Patricia; Aubrey-Bassler, Kris; Kandola, Kami; Aguilar, Carolina; Campbell-Scherer, Denise; Sopcak, Nicolette; O'Brien, Mary Ann; Meaney, Christopher; Faria, Vee; Baxter, Julia; Moineddin, Rahim; Salvalaggio, Ginetta; Green, Lee; Cave, Andrew; Grunfeld, Eva

    2014-10-08

    The objectives of this paper are to describe the planned implementation and evaluation of the Building on Existing Tools to Improve Chronic Disease Prevention and Screening in Primary Care (BETTER 2) program which originated from the BETTER trial. The pragmatic trial, informed by the Chronic Care Model, demonstrated the effectiveness of an approach to Chronic Disease Prevention and Screening (CDPS) involving the use of a new role, the prevention practitioner. The desired goals of the program are improved clinical outcomes, reduction in the burden of chronic disease, and improved sustainability of the health-care system through improved CDPS in primary care. The BETTER 2 program aims to expand the implementation of the intervention used in the original BETTER trial into communities across Canada (Alberta, Ontario, Newfoundland and Labrador, the Northwest Territories and Nova Scotia). This proactive approach provides at-risk patients with an intervention from the prevention practitioner, a health-care professional. Using the BETTER toolkit, the prevention practitioner determines which CDPS actions the patient is eligible to receive, and through shared decision-making and motivational interviewing, develops a unique and individualized 'prevention prescription' with the patient. This intervention is 1) personalized; 2) addressing multiple conditions; 3) integrated through linkages to local, regional, or national resources; and 4) longitudinal by assessing patients over time. The BETTER 2 program brings together primary care providers, policy/decision makers and researchers to work towards improving CDPS in primary care. The target patient population is adults aged 40-65. The reach, effectiveness, adoption, implementation, maintain (RE-AIM) framework will inform the evaluation of the program through qualitative and quantitative methods. A composite index will be used to quantitatively assess the effectiveness of the prevention practitioner intervention. The CDPS actions

  18. Automated toxicological screening reports of modified Agilent MSD Chemstation combined with Microsoft Visual Basic application programs.

    Choe, Sanggil; Kim, Suncheun; Choi, Hyeyoung; Choi, Hwakyoung; Chung, Heesun; Hwang, Bangyeon

    2010-06-15

    Agilent GC-MS MSD Chemstation offers automated library search report for toxicological screening using total ion chromatogram (TIC) and mass spectroscopy in normal mode. Numerous peaks appear in the chromatogram of biological specimen such as blood or urine and often large migrating peaks obscure small target peaks, in addition, any target peaks of low abundance regularly give wrong library search result or low matching score. As a result, retention time and mass spectrum of all the peaks in the chromatogram have to be checked to see if they are relevant. These repeated actions are very tedious and time-consuming to toxicologists. MSD Chemstation software operates using a number of macro files which give commands and instructions on how to work on and extract data from the chromatogram and spectroscopy. These macro files are developed by the own compiler of the software. All the original macro files can be modified and new macro files can be added to the original software by users. To get more accurate results with more convenient method and to save time for data analysis, we developed new macro files for reports generation and inserted new menus in the Enhanced Data Analysis program. Toxicological screening reports generated by these new macro files are in text mode or graphic mode and these reports can be generated with three different automated subtraction options. Text reports have Brief mode and Full mode and graphic reports have the option with or without mass spectrum mode. Matched mass spectrum and matching score for detected compounds are printed in reports by modified library searching modules. We have also developed an independent application program named DrugMan. This program manages drug groups, lists and parameters that are in use in MSD Chemstation. The incorporation of DrugMan with modified macro modules provides a powerful tool for toxicological screening and save a lot of valuable time on toxicological work. (c) 2010 Elsevier Ireland Ltd. All

  19. Screening Genetic Resources of Capsicum Peppers in Their Primary Center of Diversity in Bolivia and Peru.

    van Zonneveld, Maarten; Ramirez, Marleni; Williams, David E; Petz, Michael; Meckelmann, Sven; Avila, Teresa; Bejarano, Carlos; Ríos, Llermé; Peña, Karla; Jäger, Matthias; Libreros, Dimary; Amaya, Karen; Scheldeman, Xavier

    2015-01-01

    For most crops, like Capsicum, their diversity remains under-researched for traits of interest for food, nutrition and other purposes. A small investment in screening this diversity for a wide range of traits is likely to reveal many traditional varieties with distinguished values. One objective of this study was to demonstrate, with Capsicum as model crop, the application of indicators of phenotypic and geographic diversity as effective criteria for selecting promising genebank accessions for multiple uses from crop centers of diversity. A second objective was to evaluate the expression of biochemical and agromorphological properties of the selected Capsicum accessions in different conditions. Four steps were involved: 1) Develop the necessary diversity by expanding genebank collections in Bolivia and Peru; 2) Establish representative subsets of ~100 accessions for biochemical screening of Capsicum fruits; 3) Select promising accessions for different uses after screening; and 4) Examine how these promising accessions express biochemical and agromorphological properties when grown in different environmental conditions. The Peruvian Capsicum collection now contains 712 accessions encompassing all five domesticated species (C. annuum, C. chinense, C. frutescens, C. baccatum, and C. pubescens). The collection in Bolivia now contains 487 accessions, representing all five domesticates plus four wild taxa (C. baccatum var. baccatum, C. caballeroi, C. cardenasii, and C. eximium). Following the biochemical screening, 44 Bolivian and 39 Peruvian accessions were selected as promising, representing wide variation in levels of antioxidant capacity, capsaicinoids, fat, flavonoids, polyphenols, quercetins, tocopherols, and color. In Peru, 23 promising accessions performed well in different environments, while each of the promising Bolivian accessions only performed well in a certain environment. Differences in Capsicum diversity and local contexts led to distinct outcomes in

  20. A chemical genetic screen for modulators of asymmetrical 2,2'-dimeric naphthoquinones cytotoxicity in yeast.

    Ashkan Emadi

    Full Text Available BACKGROUND: Dimeric naphthoquinones (BiQ were originally synthesized as a new class of HIV integrase inhibitors but have shown integrase-independent cytotoxicity in acute lymphoblastic leukemia cell lines suggesting their use as potential anti-neoplastic agents. The mechanism of this cytotoxicity is unknown. In order to gain insight into the mode of action of binaphthoquinones we performed a systematic high-throughput screen in a yeast isogenic deletion mutant array for enhanced or suppressed growth in the presence of binaphthoquinones. METHODOLOGY/PRINCIPAL FINDINGS: Exposure of wild type yeast strains to various BiQs demonstrated inhibition of yeast growth with IC(50s in the microM range. Drug sensitivity and resistance screens were performed by exposing arrays of a haploid yeast deletion mutant library to BiQs at concentrations near their IC(50. Sensitivity screens identified yeast with deletions affecting mitochondrial function and cellular respiration as having increased sensitivity to BiQs. Corresponding to this, wild type yeast grown in the absence of a fermentable carbon source were particularly sensitive to BiQs, and treatment with BiQs was shown to disrupt the mitochondrial membrane potential and lead to the generation of reactive oxygen species (ROS. Furthermore, baseline ROS production in BiQ sensitive mutant strains was increased compared to wild type and could be further augmented by the presence of BiQ. Screens for resistance to BiQ action identified the mitochondrial external NAD(PH dehydrogenase, NDE1, as critical to BiQ toxicity and over-expression of this gene resulted in increased ROS production and increased sensitivity of wild type yeast to BiQ. CONCLUSIONS/SIGNIFICANCE: In yeast, binaphthoquinone cytotoxicity is likely mediated through NAD(PH:quonine oxidoreductases leading to ROS production and dysfunctional mitochondria. Further studies are required to validate this mechanism in mammalian cells.

  1. The Peru Cervical Cancer Screening Study (PERCAPS): the design and implementation of a mother/daughter screen, treat, and vaccinate program in the Peruvian jungle.

    Abuelo, Carolina E; Levinson, Kimberly L; Salmeron, Jorge; Sologuren, Carlos Vallejos; Fernandez, Maria Jose Vallejos; Belinson, Jerome L

    2014-06-01

    Peru struggles to prevent cervical cancer (CC). In the jungle, prevention programs suffer from significant barriers although technology exists to detect CC precursors. This study used community based participatory research (CBPR) methods to overcome barriers. The objective was to evaluate the utility of CBPR techniques in a mother-child screen/treat and vaccinate program for CC prevention in the Peruvian jungle. The CC prevention program used self-sampling for human papillomavirus (HPV) for screening, cryotherapy for treatment and the HPV vaccine Gardasil for vaccination. Community health leaders (HL) from around Iquitos participated in a two half day educational course. The HLs then decided how to implement interventions in their villages or urban sectors. The success of the program was measured by: (1) ability of the HLs to determine an implementation plan, (2) proper use of research forms, (3) participation and retention rates, and (4) participants' satisfaction. HLs successfully registered 320 women at soup kitchens, schools, and health posts. Screening, treatment, and vaccination were successfully carried out using forms for registration, consent, and results with minimum error. In the screen/treat intervention 100% of participants gave an HPV sample and 99.7% reported high satisfaction; 81% of HPV + women were treated, and 57% returned for 6-month followup. Vaccine intervention: 98% of girls received the 1st vaccine, 88% of those received the 2nd, and 65% the 3rd. CBPR techniques successfully helped implement a screen/treat and vaccinate CC prevention program around Iquitos, Peru. These techniques may be appropriate for large-scale preventive health-care interventions.

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

    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.

  3. Cost-Effectiveness of Elderly Health Examination Program: The Example of Hypertension Screening

    Bing-Hwa Deng

    2007-01-01

    Full Text Available The National Health Insurance (NHI and social welfare agencies have implemented the Elderly Health Examination Program (EHEP for years. No study has ever attempted to evaluate whether this program is cost-effective. The purposes of this study were, firstly, to understand the prevalence and incidence rates of hypertension and, secondly, to estimate the cost and effectiveness of the EHEP, focusing on hypertension screening. The data sources were: (1 hypertension and clinical information derived from the 1996 and 1997 EHEP, which was used to generate prevalence and incidence rates of hypertension; and (2 claim data of the NHI that included treatment costs of stroke patients (in-and outpatients. Hypothetical models were used to evaluate the cost-effectiveness of the hypertension screening program in various conditions. Sensitivity analysis was also employed to evaluate the effect of each estimation indicator on the cost and effectiveness of the hypertension screening program. A total of 28.3% of the elderly population in Kaohsiung (25,174 of 88,812 participated in the 1996 EHEP; 14,915 of them participated in the following 1997 EHEP, with a retention rate of 59.3%. Criteria from the Sixth Report of the Joint National Committee on Detection, Evaluation, and Treatment of High Blood Pressure (JNC VI (systolic blood pressure/diastolic blood pressure ≥ 160/95mmHg or taking antihypertensive drugs were used; we found that prevalence and incidence rates of hypertension were 24.6% and 6.6%, respectively. Hypertension rates are increasing in the aging process as shown in both prevalence and incidence models. In comparison with non-participants, the prevalence model indicates that each hypertension patient who had attended the EHEP not only saved NT$34,570–34,890 in medical and associated costs, but also increased their lifespan by 128 days. The present findings suggest that the EHEP is a cost-effective program with health and social welfare policy

  4. A genome-wide screen for genetic variants that modify the recruitment of REST to its target genes.

    Rory Johnson

    Full Text Available Increasing numbers of human diseases are being linked to genetic variants, but our understanding of the mechanistic links leading from DNA sequence to disease phenotype is limited. The majority of disease-causing nucleotide variants fall within the non-protein-coding portion of the genome, making it likely that they act by altering gene regulatory sequences. We hypothesised that SNPs within the binding sites of the transcriptional repressor REST alter the degree of repression of target genes. Given that changes in the effective concentration of REST contribute to several pathologies-various cancers, Huntington's disease, cardiac hypertrophy, vascular smooth muscle proliferation-these SNPs should alter disease-susceptibility in carriers. We devised a strategy to identify SNPs that affect the recruitment of REST to target genes through the alteration of its DNA recognition element, the RE1. A multi-step screen combining genetic, genomic, and experimental filters yielded 56 polymorphic RE1 sequences with robust and statistically significant differences of affinity between alleles. These SNPs have a considerable effect on the the functional recruitment of REST to DNA in a range of in vitro, reporter gene, and in vivo analyses. Furthermore, we observe allele-specific biases in deeply sequenced chromatin immunoprecipitation data, consistent with predicted differenes in RE1 affinity. Amongst the targets of polymorphic RE1 elements are important disease genes including NPPA, PTPRT, and CDH4. Thus, considerable genetic variation exists in the DNA motifs that connect gene regulatory networks. Recently available ChIP-seq data allow the annotation of human genetic polymorphisms with regulatory information to generate prior hypotheses about their disease-causing mechanism.

  5. A Genome-Wide Screen for Genetic Variants That Modify the Recruitment of REST to Its Target Genes

    Johnson, Rory; Richter, Nadine; Bogu, Gireesh K.; Bhinge, Akshay; Teng, Siaw Wei; Choo, Siew Hua; Andrieux, Lise O.; de Benedictis, Cinzia; Jauch, Ralf; Stanton, Lawrence W.

    2012-01-01

    Increasing numbers of human diseases are being linked to genetic variants, but our understanding of the mechanistic links leading from DNA sequence to disease phenotype is limited. The majority of disease-causing nucleotide variants fall within the non-protein-coding portion of the genome, making it likely that they act by altering gene regulatory sequences. We hypothesised that SNPs within the binding sites of the transcriptional repressor REST alter the degree of repression of target genes. Given that changes in the effective concentration of REST contribute to several pathologies—various cancers, Huntington's disease, cardiac hypertrophy, vascular smooth muscle proliferation—these SNPs should alter disease-susceptibility in carriers. We devised a strategy to identify SNPs that affect the recruitment of REST to target genes through the alteration of its DNA recognition element, the RE1. A multi-step screen combining genetic, genomic, and experimental filters yielded 56 polymorphic RE1 sequences with robust and statistically significant differences of affinity between alleles. These SNPs have a considerable effect on the the functional recruitment of REST to DNA in a range of in vitro, reporter gene, and in vivo analyses. Furthermore, we observe allele-specific biases in deeply sequenced chromatin immunoprecipitation data, consistent with predicted differenes in RE1 affinity. Amongst the targets of polymorphic RE1 elements are important disease genes including NPPA, PTPRT, and CDH4. Thus, considerable genetic variation exists in the DNA motifs that connect gene regulatory networks. Recently available ChIP–seq data allow the annotation of human genetic polymorphisms with regulatory information to generate prior hypotheses about their disease-causing mechanism. PMID:22496669

  6. A genetic screen identifies interferon-α effector genes required to suppress hepatitis C virus replication.

    Fusco, Dahlene N; Brisac, Cynthia; John, Sinu P; Huang, Yi-Wen; Chin, Christopher R; Xie, Tiao; Zhao, Hong; Jilg, Nikolaus; Zhang, Leiliang; Chevaliez, Stephane; Wambua, Daniel; Lin, Wenyu; Peng, Lee; Chung, Raymond T; Brass, Abraham L

    2013-06-01

    Hepatitis C virus (HCV) infection is a leading cause of end-stage liver disease. Interferon-α (IFNα) is an important component of anti-HCV therapy; it up-regulates transcription of IFN-stimulated genes, many of which have been investigated for their antiviral effects. However, all of the genes required for the antiviral function of IFNα (IFN effector genes [IEGs]) are not known. IEGs include not only IFN-stimulated genes, but other nontranscriptionally induced genes that are required for the antiviral effect of IFNα. In contrast to candidate approaches based on analyses of messenger RNA (mRNA) expression, identification of IEGs requires a broad functional approach. We performed an unbiased genome-wide small interfering RNA screen to identify IEGs that inhibit HCV. Huh7.5.1 hepatoma cells were transfected with small interfering RNAs incubated with IFNα and then infected with JFH1 HCV. Cells were stained using HCV core antibody, imaged, and analyzed to determine the percent infection. Candidate IEGs detected in the screen were validated and analyzed further. The screen identified 120 previously unreported IEGs. From these, we more fully evaluated the following: asparagine-linked glycosylation 10 homolog (yeast, α-1,2-glucosyltransferase); butyrylcholinesterase; dipeptidyl-peptidase 4 (CD26, adenosine deaminase complexing protein 2); glucokinase (hexokinase 4) regulator; guanylate cyclase 1, soluble, β 3; MYST histone acetyltransferase 1; protein phosphatase 3 (formerly 2B), catalytic subunit, β isoform; peroxisomal proliferator-activated receptor-γ-DBD-interacting protein 1; and solute carrier family 27 (fatty acid transporter), member 2; and demonstrated that they enabled IFNα-mediated suppression of HCV at multiple steps of its life cycle. Expression of these genes had more potent effects against flaviviridae because a subset was required for IFNα to suppress dengue virus but not influenza A virus. In addition, many of the host genes detected in this

  7. BRCA Genetic Screening in Middle Eastern and North African: Mutational Spectrum and Founder BRCA1 Mutation (c.798_799delTT in North African

    Abdelilah Laraqui

    2015-01-01

    Full Text Available Background. The contribution of BRCA1 mutations to both hereditary and sporadic breast and ovarian cancer (HBOC has not yet been thoroughly investigated in MENA. Methods. To establish the knowledge about BRCA1 mutations and their correlation with the clinical aspect in diagnosed cases of HBOC in MENA populations. A systematic review of studies examining BRCA1 in BC women in Cyprus, Jordan, Egypt, Lebanon, Morocco, Algeria, and Tunisia was conducted. Results. Thirteen relevant references were identified, including ten studies which performed DNA sequencing of all BRCA1 exons. For the latter, 31 mutations were detected in 57 of the 547 patients ascertained. Familial history of BC was present in 388 (71% patients, of whom 50 were mutation carriers. c.798_799delTT was identified in 11 North African families, accounting for 22% of total identified BRCA1 mutations, suggesting a founder allele. A broad spectrum of other mutations including c.68_69delAG, c.181T>G, c.5095C>T, and c.5266dupC, as well as sequence of unclassified variants and polymorphisms, was also detected. Conclusion. The knowledge of genetic structure of BRCA1 in MENA should contribute to the assessment of the necessity of preventive programs for mutation carriers and clinical management. The high prevalence of BC and the presence of frequent mutations of the BRCA1 gene emphasize the need for improving screening programs and individual testing/counseling.

  8. Adherence to the cervical cancer screening program in women living with HIV in Denmark: comparison with the general population.

    Thorsteinsson, Kristina; Ladelund, Steen; Jensen-Fangel, Søren; Katzenstein, Terese L; Johansen, Isik Somuncu; Pedersen, Gitte; Junge, Jette; Helleberg, Marie; Storgaard, Merete; Lebech, Anne-Mette

    2014-05-13

    Women living with HIV (WLWH) are at increased risk of invasive cervical cancer (ICC). International HIV guidelines suggest cervical screening twice the first year after HIV diagnosis and thereafter annually. Adherence to the HIV cervical screening program in Denmark is unknown. We studied women from a population-based, nationwide HIV cohort in Denmark and a cohort of age-matched females from the general population. Screening behaviour was assessed from 1999-2010. Adjusted odds ratios (OR's) for screening attendance in the two cohorts and potential predictors of attendance to guidelines were estimated. Pathology specimens were identified from The Danish Pathology Data Bank. We followed 1143 WLWH and 17,145 controls with no prior history of ICC for 9,509 and 157,362 person-years. The first year after HIV diagnosis 2.6% of WLWH obtained the recommended two cervical cytologies. During the different calendar intervals throughout the study period between 29-46% of WLWH followed the HIV cervical screening guidelines. Adjusted OR's of attendance to the general population screening program for WLWH aged 30, 40 and 50 years, compared to controls, were 0.69 (95% CI: 0.56-0.87), 0.67 (0.55-0.80) and 0.84 (0.61-1.15). Predictors of attendance to the HIV cervical screening program were a CD4 count > 350 cells/μL and HIV RNA < 500 copies/mL. Calendar period after 2002 and HIV RNA < 500 copies/mL predicted attendance to the general population cervical screening program. The majority of WLWH do not follow the HIV guidelines for cervical screening. We support the idea of cytology as part of an annual review and integration of HIV care and cervical screening in a single clinic setting.

  9. Towards programming languages for genetic engineering of living cells.

    Pedersen, Michael; Phillips, Andrew

    2009-08-06

    Synthetic biology aims at producing novel biological systems to carry out some desired and well-defined functions. An ultimate dream is to design these systems at a high level of abstraction using engineering-based tools and programming languages, press a button, and have the design translated to DNA sequences that can be synthesized and put to work in living cells. We introduce such a programming language, which allows logical interactions between potentially undetermined proteins and genes to be expressed in a modular manner. Programs can be translated by a compiler into sequences of standard biological parts, a process that relies on logic programming and prototype databases that contain known biological parts and protein interactions. Programs can also be translated to reactions, allowing simulations to be carried out. While current limitations on available data prevent full use of the language in practical applications, the language can be used to develop formal models of synthetic systems, which are otherwise often presented by informal notations. The language can also serve as a concrete proposal on which future language designs can be discussed, and can help to guide the emerging standard of biological parts which so far has focused on biological, rather than logical, properties of parts.

  10. Genetically engineered tissue to screen for glycan function in tissue formation

    M., Adamopoulou; E.M., Pallesen; A., Levann

    2017-01-01

    engineered GlycoSkin tissue models can be used to study biological interactions involving glycan structure on lipids, or glycosaminoglycans. This engineering approach will allow us to investigate the functions of glycans in homeostasis and elucidate the role of glycans in normal epithelial formation....... We use genetic engineering with CRISPR/Cas9 combined with 3D organotypic skin models to examine how distinct glycans influence epithelial formation. We have performed knockout and knockin of more than 100 select genes in the genome of human immortalized human keratinocytes, enabling a systematic...... analysis of the impact of specific glycans in the formation and transformation of the human skin. The genetic engineered human skin models (GlycoSkin) was designed with and without all major biosynthetic pathways in mammalian glycan biosynthesis, including GalNAc-O-glycans, O-fucosylation, O...

  11. Testing of chemicals for genetic activity with Saccharomyces cerevisiae: a report of the U. S. Environmental Protection Agency Gene-Tox Program

    Zimmermann, F.K.; von Borstel, R.C.; von Halle, E.S.; Parry, J.M.; Siebert, D.; Zetterberg, G.; Barale, R.; Loprieno, N.

    1984-01-01

    This review article with over 200 references summarizes the results of mutation screening tests with 492 chemicals using saccharomyces cerevisiae as the test organism. In addition, an extensive description of S. cerevisiae as a test organism is given. Yeast can be used to study genetic effects both in mitotic and in meiotic cells because it can be cultured as a stable haploid or a stable diploid. The most commonly used genetic endpoint has been mitotic recombination either as mitotic crossing-over or mitotic gene conversion. Data were available on tests with 492 chemicals, of which 249 were positive, as reported in 173 articles or reports. The genetic test/carcinogenicity accuracy was 0.74, based on the carcinogen listing established in the gene-tox program. The yeast tests supplement the bacterial tests for detecting agents that act via radical formation, antibacterial drugs, and other chemicals interfering with chromosome segregation and recombination processes.

  12. Effect of intervention programs in schools to reduce screen time: a meta-analysis

    Roberta Roggia Friedrich

    Full Text Available OBJECTIVE:to evaluate the effects of intervention program strategies on the time spent on activities such as watching television, playing videogames, and using the computer among schoolchildren.SOURCES:a search for randomized controlled trials available in the literature was performed in the following electronic databases: PubMed, Lilacs, Embase, Scopus, Web of Science, and Cochrane Library using the following Keywords randomized controlled trial, intervention studies, sedentary lifestyle, screen time, and school. A summary measure based on the standardized mean difference was used with a 95% confidence interval.DATA SYNTHESIS: a total of 1,552 studies were identified, of which 16 were included in the meta-analysis. The interventions in the randomized controlled trials (n = 8,785 showed a significant effect in reducing screen time, with a standardized mean difference (random effect of: -0.25 (-0.37, -0.13, p < 0.01.CONCLUSION:interventions have demonstrated the positive effects of the decrease of screen time among schoolchildren.

  13. Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

    Havndrup, Ole; Christiansen, Michael; Stoevring, Birgitte

    2010-01-01

    AIMS: Fabry disease, an X-linked storage disorder caused by defective lysosomal enzyme alpha-galactosidase A activity, may resemble sarcomere-gene-associated hypertrophic cardiomyopathy (HCM). The 'cardiac variant' of Fabry disease which only affects the heart may be missed unless specifically te...... therapy, supports systematic testing for Fabry disease. Enzyme measurements are sufficient in men, but genetic testing is needed in women....

  14. Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation

    Rossing, Maria; Albrechtsen, Anders; Skytte, Anne-Bine

    2016-01-01

    Pathogenic germline mutations in the folliculin (FLCN) tumor suppressor gene predispose to Birt-Hogg-Dubé (BHD) syndrome, a rare disease characterized by the development of cutaneous hamartomas (fibrofolliculomas), multiple lung cysts, spontaneous pneumothoraces and renal cell cancer. In this stu...... understanding of BHD syndrome and management of BHD patients.Journal of Human Genetics advance online publication, 13 October 2016; doi:10.1038/jhg.2016.118....

  15. SERS-based detection methods for screening of genetically modified bacterial strains

    Morelli, Lidia

    factories vary largely, including industrial production of valuable compounds for biofuels, polymer synthesis and food, cosmetic and pharmaceutical industry. The improvement of computational and biochemical tools has revolutionized the synthesis of novel modified microbial strains, opening up new......The importance of metabolic engineering has been growing over the last decades, establishing the use of genetically modified microbial strains for overproduction of metabolites at industrial scale as an innovative, convenient and biosustainable method. Nowadays, application areas of microbial...

  16. Identification of autophagosome-associated proteins and regulators by quantitative proteomic analysis and genetic screens

    Dengjel, Jörn; Høyer-Hansen, Maria; Nielsen, Maria

    2012-01-01

    Autophagy is one of the major intracellular catabolic pathways, but little is known about the composition of autophagosomes. To study the associated proteins, we isolated autophagosomes from human breast cancer cells using two different biochemical methods and three stimulus types: amino acid dep...... regulators of autophagy, including subunits of the retromer complex. The combined spatiotemporal proteomic and genetic data sets presented here provide a basis for further characterization of autophagosome biogenesis and cargo selection....

  17. Chemical Genetic Screens for TDP-43 Modifiers and ALS Drug Discovery

    2015-03-01

    Champagne , and Pierre Drapeau. 25th international symposium on ALS/MND (5-7 December 2014) Patten SA, Vaccaro A, Drapeau P, Kabashi E, Parker JA...transgenic mice produced with TDP- 43 genomic fragments. Brain 134, 2610-2626 (2011). 6 Kabashi, E., Champagne , N., Brustein, E. & Drapeau, P. In the...swim of things: recent insights to neurogenetic disorders from zebrafish. Trends Genet 26, 373-381 (2010). 7 Kabashi, E., Brustein, E., Champagne , N

  18. Chemical Genetic Screens for TDP-43 Modifiers and ALS Drug Discovery

    2013-10-01

    red. Chlo= Chlorprothixene hydrochloride; Amo= Amoxapine; Mians = Mianserine hydrochloride; Pizo= Pizotifen malate; Pimet= Pimethixene maleate; Cloz...lobar degeneration in transgenic mice produced with TDP-43 genomic fragments. Brain. 32. Li Y, Ray P, Rao EJ, Shi C, Guo W, et al. (2010) A Drosophila...2008) Sirtuin Inhibition Protects from the Polyalanine Muscular Dystrophy Protein PABPN1. Hum Mol Genet. 36. Wang J, Farr GW, Hall DH, Li F, Furtak

  19. Comparison between different colon cleansing products for screening colonoscopy. A noninferiority trial in population-based screening programs in Italy.

    Zorzi, Manuel; Valiante, Flavio; Germanà, Bastianello; Baldassarre, Gianluca; Coria, Bartolomea; Rinaldi, Michela; Heras Salvat, Helena; Carta, Alessandra; Bortoluzzi, Francesco; Cervellin, Erica; Polo, Maria Luisa; Bulighin, Gianmarco; Azzurro, Maurizio; Di Piramo, Daniele; Turrin, Anna; Monica, Fabio

    2016-03-01

    The high volume and poor palatability of 4 L of polyethylene glycol (PEG)-based bowel cleansing preparation required before a colonoscopy represent a major obstacle for patients. The aim of this study was to compare two low volume PEG-based preparations with standard 4 L PEG in individuals with a positive fecal immunochemical test (FIT) within organized screening programs in Italy. A total of 3660 patients with a positive FIT result were randomized to receive, in a split-dose regimen, 4 L PEG or 2 L PEG plus ascorbate (PEG-A) or 2 L PEG with citrate and simethicone plus bisacodyl (PEG-CS). The noninferiority of the low volume preparations vs. 4 L PEG was tested through the difference in proportions of adequate cleansing. A total of 2802 patients were included in the study. Adequate bowel cleansing was achieved in 868 of 926 cases (93.7 %) in the 4 L PEG group, in 872 out of 911 cases in the PEG-A group (95.7 %, difference in proportions  + 1.9 %, 95 % confidence interval [CI]  - 0.1 to 3.9), and in 862 out of 921 cases in the PEG-CS group (93.6 %, difference in proportions  - 0.2 %, 95 %CI  - 2.4 to 2.0). Bowel cleansing was adequate in 95.5 % of cases when the preparation-to-colonoscopy interval was between 120 and 239 minutes, whereas it dropped to 83.3 % with longer intervals. Better cleansing was observed in patients with regular bowel movements (95.6 %) compared with those with diarrhea (92.4 %) or constipation (90.8 %). Low volume PEG-based preparations administered in a split-dose regimen guarantee noninferior bowel cleansing compared with 4 L PEG. Constipated patients require a personalized preparation. EudraCT 2012 - 003958 - 82. © Georg Thieme Verlag KG Stuttgart · New York.

  20. Consensus review of discordant findings maximizes cancer detection rate in double-reader screening mammography: Irish National Breast Screening Program experience.

    Shaw, Colette M; Flanagan, Fidema L; Fenlon, Helen M; McNicholas, Michelle M

    2009-02-01

    To assesses consensus review of discordant screening mammography findings in terms of its sensitivity, safety, and effect on overall performance in the first 6 years of operation of the Irish National Breast Screening Program (NBSP). Women who participated in the Irish NBSP gave written informed consent for use of their data for auditing purposes. Local ethics committee approval was obtained. The study population consisted of women who participated in the Irish NBSP and underwent initial screening mammography at one of the two screening centers serving the eastern part of Ireland between 2000 and 2005. Independent double reading of mammograms was performed. When the readers disagreed regarding referral, the case was reviewed by a consensus panel. Of the 128 569 screenings performed, 1335 (1%) were discussed by consensus. Of the 1335 cases discussed by consensus, 606 (45.39%) were recalled for further assessment. This resulted in an overall recall rate of 4.41%. In those recalled to assessment, 71 cases of malignant disease were diagnosed (ductal carcinoma in situ, n = 24; invasive cancer, n = 47). The remaining 729 patients were returned to biennial screening. Of these 729 patients, seven had false-negative findings that were identified in the subsequent screening round. Use of the highest reader recall method, in which a patient is recalled if her findings are deemed abnormal by either reader, could potentially increase the cancer detection rate by 0.6 per 1000 women screened but would increase the recall rate by 12.69% and the number of false-positive findings by 15.37%. The consensus panel identified 71 (7.33%) of 968 cancers diagnosed. Consensus review substantially reduced the number of cases recalled and was associated with a low false-negative rate.

  1. Gestational surrogacy and the role of routine embryo screening: Current challenges and future directions for preimplantation genetic testing.

    Sills, E Scott; Anderson, Robert E; McCaffrey, Mary; Li, Xiang; Arrach, Nabil; Wood, Samuel H

    2016-03-01

    Preimplantation genetic screening (PGS) is a component of IVF entailing selection of an embryo for transfer on the basis of chromosomal normalcy. If PGS were integrated with single embryo transfer (SET) in a surrogacy setting, this approach could improve pregnancy rates, minimize miscarriage risk, and limit multiple gestations. Even without PGS, pregnancy rates for IVF surrogacy cases are generally satisfactory, especially when treatment utilizes embryos derived from young oocytes and transferred to a healthy surrogate. However, there could be a more general role for PGS in surrogacy, since background aneuploidy in embryos remains a major factor driving implantation failure and miscarriage for all infertility patients. At present, the proportion of IVF cases involving GS is limited, while the number of IVF patients requesting PGS appears to be increasing. In this report, the relevance of PGS for surrogacy in the rapidly changing field of assisted fertility medicine is discussed. © 2015 Wiley Periodicals, Inc.

  2. NEWBORN SCREENING PROGRAM: WHY TO COLLECT IN HIGH THE HOSPITAL ONE?

    Maria Ribeiro Lacerda

    2003-12-01

    Full Text Available The National Program of Newborn Screening for research of the Phenylketonuria, Congenital Hypothyroidism,Cystic Fibrosis, Sickle Cell Disease and other Hemoglobinopathies, it has as objective precociously todetect and to treat illnesses that, if prevented, prevent sequels as the mental deficiency and others. We intend,through this article, to awake the attention of the health professionals, mainly of the nurses, who act in the attendanceof the just-been newborn, of the gestante, the woman in labor and in puerperium, on the importance of theprecocious diagnosis of the diseases searched in the Program, with primordial purposes to assist the suckle for itsgood physical, neurological, psychological and intellectual development, besides offering to familiar the o geneticadvise. The examination gratuitous and is supported by law, and so that the prevention is effective, all the Maternitiesmust always carry through the collections of sample of blood of the heel of the high baby in the hospital one.

  3. Association Between Socioeconomic Status and Participation in Colonoscopy Screening Program in First Degree Relatives of Colorectal Cancer Patients.

    Chouhdari, Arezoo; Yavari, Parvin; Pourhoseingholi, Mohammad Amin; Sohrabi, Mohammad-Reza

    2016-04-01

    Approximately 15% to 25% of colorectal cancer (CRC) cases have positive family history for disease. Colonoscopy screening test is the best way for prevention and early diagnosis. Studies have found that first degree relatives (FDRs) with low socioeconomic status are less likely to participate in colonoscopy screening program. The aim of this study is to determine the association between socioeconomic status and participation in colonoscopy screening program in FDRs. This descriptive cross-sectional, study has been conducted on 200 FDRs who were consulted for undergoing colonoscopy screening program between 2007 and 2013 in research institute for gastroenterology and liver disease of Shahid Beheshti University of Medical Sciences, Tehran, Iran. They were interviewed via phone by a valid questionnaire about socioeconomic status. For data analysis, chi-square, exact fisher and multiple logistic regression were executed by SPSS 19. The results indicated 58.5% participants underwent colonoscopy screening test at least once to the time of the interview. There was not an association between participation in colonoscopy screening program and socioeconomic status to the time of the interview in binomial analysis. But statistical significance between intention to participate and educational and income level were found. We found, in logistic regression analysis, that high educational level (Diploma and University degree in this survey) was a predictor to participate in colonoscopy screening program in FDRs. According to this survey low socioeconomic status is an important factor to hinder participation of FDRs in colonoscopy screening program. Therefore, planned interventions for elevation knowledge and attitude in FDRs with low educational level are necessary. Also, reducing colonoscopy test costs should be a major priority for policy makers.

  4. A Hybrid Genetic Programming Algorithm for Automated Design of Dispatching Rules.

    Nguyen, Su; Mei, Yi; Xue, Bing; Zhang, Mengjie

    2018-06-04

    Designing effective dispatching rules for production systems is a difficult and timeconsuming task if it is done manually. In the last decade, the growth of computing power, advanced machine learning, and optimisation techniques has made the automated design of dispatching rules possible and automatically discovered rules are competitive or outperform existing rules developed by researchers. Genetic programming is one of the most popular approaches to discovering dispatching rules in the literature, especially for complex production systems. However, the large heuristic search space may restrict genetic programming from finding near optimal dispatching rules. This paper develops a new hybrid genetic programming algorithm for dynamic job shop scheduling based on a new representation, a new local search heuristic, and efficient fitness evaluators. Experiments show that the new method is effective regarding the quality of evolved rules. Moreover, evolved rules are also significantly smaller and contain more relevant attributes.

  5. Selecting the Best Forecasting-Implied Volatility Model Using Genetic Programming

    Wafa Abdelmalek

    2009-01-01

    Full Text Available The volatility is a crucial variable in option pricing and hedging strategies. The aim of this paper is to provide some initial evidence of the empirical relevance of genetic programming to volatility's forecasting. By using real data from S&P500 index options, the genetic programming's ability to forecast Black and Scholes-implied volatility is compared between time series samples and moneyness-time to maturity classes. Total and out-of-sample mean squared errors are used as forecasting's performance measures. Comparisons reveal that the time series model seems to be more accurate in forecasting-implied volatility than moneyness time to maturity models. Overall, results are strongly encouraging and suggest that the genetic programming approach works well in solving financial problems.

  6. Academic training: From Evolution Theory to Parallel and Distributed Genetic Programming

    2007-01-01

    2006-2007 ACADEMIC TRAINING PROGRAMME LECTURE SERIES 15, 16 March From 11:00 to 12:00 - Main Auditorium, bldg. 500 From Evolution Theory to Parallel and Distributed Genetic Programming F. FERNANDEZ DE VEGA / Univ. of Extremadura, SP Lecture No. 1: From Evolution Theory to Evolutionary Computation Evolutionary computation is a subfield of artificial intelligence (more particularly computational intelligence) involving combinatorial optimization problems, which are based to some degree on the evolution of biological life in the natural world. In this tutorial we will review the source of inspiration for this metaheuristic and its capability for solving problems. We will show the main flavours within the field, and different problems that have been successfully solved employing this kind of techniques. Lecture No. 2: Parallel and Distributed Genetic Programming The successful application of Genetic Programming (GP, one of the available Evolutionary Algorithms) to optimization problems has encouraged an ...

  7. Computational approaches to screen candidate ligands with anti- Parkinson's activity using R programming.

    Jayadeepa, R M; Niveditha, M S

    2012-01-01

    It is estimated that by 2050 over 100 million people will be affected by the Parkinson's disease (PD). We propose various computational approaches to screen suitable candidate ligand with anti-Parkinson's activity from phytochemicals. Five different types of dopamine receptors have been identified in the brain, D1-D5. Dopamine receptor D3 was selected as the target receptor. The D3 receptor exists in areas of the brain outside the basal ganglia, such as the limbic system, and thus may play a role in the cognitive and emotional changes noted in Parkinson's disease. A ligand library of 100 molecules with anti-Parkinson's activity was collected from literature survey. Nature is the best combinatorial chemist and possibly has answers to all diseases of mankind. Failure of some synthetic drugs and its side effects have prompted many researches to go back to ancient healing methods which use herbal medicines to give relief. Hence, the candidate ligands with anti-Parkinson's were selected from herbal sources through literature survey. Lipinski rules were applied to screen the suitable molecules for the study, the resulting 88 molecules were energy minimized, and subjected to docking using Autodock Vina. The top eleven molecules were screened according to the docking score generated by Autodock Vina Commercial drug Ropinirole was computed similarly and was compared with the 11 phytochemicals score, the screened molecules were subjected to toxicity analysis and to verify toxic property of phytochemicals. R Programming was applied to remove the bias from the top eleven molecules. Using cluster analysis and Confusion Matrix two phytochemicals were computationally selected namely Rosmarinic acid and Gingkolide A for further studies on the disease Parkinson's.

  8. Telemedicine-based diabetic retinopathy screening programs: an evaluation of utility and cost-effectiveness

    Cuadros JA

    2015-06-01

    Full Text Available Jorge A Cuadros Optometry/Vision Science, University of California, Berkeley, CA, USA Abstract: Diabetes is the main cause of blindness among working age adults, although treatment is highly effective in preventing vision loss. Eye examinations are recommended on a yearly basis for most patients for timely detection of retinal disease. Telemedicine-based diabetic retinopathy screening (TMDRS programs have been developed to identify patients with sight-threatening diabetic eye disease because patients are often noncompliant with recommended live eye examinations. This article reviews the cost-effectiveness of the various forms of TMDRS. A review of relevant articles, mostly published since 2008, shows that societal benefits generally outweigh the costs of TMDRS. However, advances in technology to improve efficacy, lower costs, and broaden screening to other sight-threatening conditions, such as glaucoma and refractive error, are necessary to improve the sustainability of TMDRS within health care organizations. Patient satisfaction with these telemedicine programs is generally high. New models of shared care with primary care providers and staff are emerging to improve patient engagement and follow-up care when individuals are found to have sight-threatening eye disease. TMDRS programs are growing and provide valuable clinical benefit. The cost-utility is currently well proven in locations with limited access to regular eye care services, such as rural areas, poor communities, and prison systems; however, improvements over time are necessary for these programs to be cost-effective in mainstream medical settings in the future. Keywords: telemedicine, diabetes, retinopathy, retinal imaging

  9. Energy Consumption Forecasting Using Semantic-Based Genetic Programming with Local Search Optimizer

    Mauro Castelli

    2015-01-01

    Full Text Available Energy consumption forecasting (ECF is an important policy issue in today’s economies. An accurate ECF has great benefits for electric utilities and both negative and positive errors lead to increased operating costs. The paper proposes a semantic based genetic programming framework to address the ECF problem. In particular, we propose a system that finds (quasi-perfect solutions with high probability and that generates models able to produce near optimal predictions also on unseen data. The framework blends a recently developed version of genetic programming that integrates semantic genetic operators with a local search method. The main idea in combining semantic genetic programming and a local searcher is to couple the exploration ability of the former with the exploitation ability of the latter. Experimental results confirm the suitability of the proposed method in predicting the energy consumption. In particular, the system produces a lower error with respect to the existing state-of-the art techniques used on the same dataset. More importantly, this case study has shown that including a local searcher in the geometric semantic genetic programming system can speed up the search process and can result in fitter models that are able to produce an accurate forecasting also on unseen data.

  10. Neurodevelopmental Outcome of Children with Congenital Hypothyroidism Diagnosed in a National Screening Program in Turkey.

    Baysal, Bahar Toklu; Baysal, Bora; Genel, Ferah; Erdur, Baris; Ozbek, Erhan; Demir, Korcan; Ozkan, Behzat

    2017-05-15

    To study the factors affecting a neurodevelopmental status of children with congenital hypothyroidism, diagnosed on national screening program. The study was performed in the Pediatric Endocrinology Department of Dr. Behcet Uz Children's Hospital between May 2012 and May 2013. Children with congenital hypothyroidism, aged between 24 and 36 months, diagnosed by national screening program were included in the study group. Healthy subjects at the same age group consisted of the control group. For the neurodevelopmental evaluation, Bayley Scale of Infant Development- II (BSID-II) was used. Factors possibly effective on neurodevelopment were evaluated. 42 patients and 40 healthy children (mean (SD) age, 29.4 (3.7) and 29.2 (3.5), respectively were included in the study. The mean MDI score [92.6 (7.07) vs 97.1 (9.69), P=0.14)] and the mean PDI score [97.8 (15.68) vs 99.1 (10.57), P=0.66)] in the study group and control group were not significantly different. Among the patient, 4.6% and 4.7% children were moderately retarded as per the MDI scores and PPI scores, respectively. The sex, socioeconomic status, birth weight, screening levels of TSH, severity of the congenital hypothyroidism, initiation time and the dosage of thyroid hormone replacement, length of the normalization period of TSH, and adherence to treatment were not found to affect the MDI and PDI scores of the patients. Some children with congenital hypothyrodism may have mild to moderate neurodevelopmental retardation, despite the early diagnosis and treatment, and thus need to be under regular follow-up for neurodevelopmental status.

  11. Application of Adverse Outcome Pathways to U.S. EPA's Endocrine Disruptor Screening Program.

    Browne, Patience; Noyes, Pamela D; Casey, Warren M; Dix, David J

    2017-09-01

    The U.S. EPA's Endocrine Disruptor Screening Program (EDSP) screens and tests environmental chemicals for potential effects in estrogen, androgen, and thyroid hormone pathways, and it is one of the only regulatory programs designed around chemical mode of action. This review describes the EDSP's use of adverse outcome pathway (AOP) and toxicity pathway frameworks to organize and integrate diverse biological data for evaluating the endocrine activity of chemicals. Using these frameworks helps to establish biologically plausible links between endocrine mechanisms and apical responses when those end points are not measured in the same assay. Pathway frameworks can facilitate a weight of evidence determination of a chemical's potential endocrine activity, identify data gaps, aid study design, direct assay development, and guide testing strategies. Pathway frameworks also can be used to evaluate the performance of computational approaches as alternatives for low-throughput and animal-based assays and predict downstream key events. In cases where computational methods can be validated based on performance, they may be considered as alternatives to specific assays or end points. A variety of biological systems affect apical end points used in regulatory risk assessments, and without mechanistic data, an endocrine mode of action cannot be determined. Because the EDSP was designed to consider mode of action, toxicity pathway and AOP concepts are a natural fit. Pathway frameworks have diverse applications to endocrine screening and testing. An estrogen pathway example is presented, and similar approaches are being used to evaluate alternative methods and develop predictive models for androgen and thyroid pathways. https://doi.org/10.1289/EHP1304.

  12. Comparison of characteristics between frequent participants and non-participants in screening program for stomach cancer.

    Fukao, A; Hisamichi, S; Komatsu, S; Shimizu, H; Satoh, H; Nakatsuka, H; Watanabe, T; Fujisaku, S; Ichinowatari, Y; Kuroda, S

    1992-04-01

    To clarify the differences in characteristics between participants and non-participants in the screening program for stomach cancer, life-style and medical histories were compared among 20, 169 subjects who lived in an urban area (Sendai) and a rural area (Wakuya and Tajiri) in Miyagi Prefecture, Japan. All subjects were classified into three groups according to the frequency of participation in the screening program during the last 5 years; i.e., frequent participating group (FPG) for 4 or 5 times, reference group (RG) for 1-3 times and non-participating group (NPG) for 0 times. Subjects in the FPG consumed more milk and green-yellow vegetable whereas those in the NPG consumed less these foods. The age-adjusted proportions of present smokers were higher in the NPG but lower in the FPG significantly. The proportions of subjects who had parental histories of all cancers and stomach cancer and past history of gastro-duodenal ulcer were higher in the FPG and lower in the NPG. To control influences among the variables a stepwise multiple regression analysis was done, and it revealed that smoking and parental history of cancers were strong predictors to explain the frequency of participation.

  13. RNAi-Mediated Reverse Genetic Screen Identified Drosophila Chaperones Regulating Eye and Neuromuscular Junction Morphology

    Sandeep Raut

    2017-07-01

    Full Text Available Accumulation of toxic proteins in neurons has been linked with the onset of neurodegenerative diseases, which in many cases are characterized by altered neuronal function and synapse loss. Molecular chaperones help protein folding and the resolubilization of unfolded proteins, thereby reducing the protein aggregation stress. While most of the chaperones are expressed in neurons, their functional relevance remains largely unknown. Here, using bioinformatics analysis, we identified 95 Drosophila chaperones and classified them into seven different classes. Ubiquitous actin5C-Gal4-mediated RNAi knockdown revealed that ∼50% of the chaperones are essential in Drosophila. Knocking down these genes in eyes revealed that ∼30% of the essential chaperones are crucial for eye development. Using neuron-specific knockdown, immunocytochemistry, and robust behavioral assays, we identified a new set of chaperones that play critical roles in the regulation of Drosophila NMJ structural organization. Together, our data present the first classification and comprehensive analysis of Drosophila chaperones. Our screen identified a new set of chaperones that regulate eye and NMJ morphogenesis. The outcome of the screen reported here provides a useful resource for further elucidating the role of individual chaperones in Drosophila eye morphogenesis and synaptic development.

  14. Genetic Screen Reveals the Role of Purine Metabolism in Staphylococcus aureus Persistence to Rifampicin

    Rebecca Yee

    2015-12-01

    Full Text Available Chronic infections with Staphylococcus aureus such as septicemia, osteomyelitis, endocarditis, and biofilm infections are difficult to treat because of persisters. Despite many efforts in understanding bacterial persistence, the mechanisms of persister formation in S. aureus remain elusive. Here, we performed a genome-wide screen of a transposon mutant library to study the molecular mechanisms involved in persistence of community-acquired S. aureus. Screening of the library for mutants defective in persistence or tolerance to rifampicin revealed many genes involved in metabolic pathways that are important for antibiotic persistence. In particular, the identified mutants belonged to metabolic pathways involved in carbohydrate, amino acid, lipid, vitamin and purine biosynthesis. Five mutants played a role in purine biosynthesis and two mutants, purB, an adenylosuccinate lyase, and purM, a phosphoribosylaminoimidazole synthetase, were selected for further confirmation. Mutants purB and purM showed defective persistence compared to the parental strain USA300 in multiple stress conditions including various antibiotics, low pH, and heat stress. The defect in persistence was restored by complementation with the wildtype purB and purM gene in the respective mutants. These findings provide new insights into the mechanisms of persistence in S. aureus and provide novel therapeutic targets for developing more effective treatment for persistent infections due to S. aureus.

  15. Identification of small molecule and genetic modulators of AON-induced dystrophin exon skipping by high-throughput screening.

    Debra A O'Leary

    Full Text Available One therapeutic approach to Duchenne Muscular Dystrophy (DMD recently entering clinical trials aims to convert DMD phenotypes to that of a milder disease variant, Becker Muscular Dystrophy (BMD, by employing antisense oligonucleotides (AONs targeting splice sites, to induce exon skipping and restore partial dystrophin function. In order to search for small molecule and genetic modulators of AON-dependent and independent exon skipping, we screened approximately 10,000 known small molecule drugs, >17,000 cDNA clones, and >2,000 kinase- targeted siRNAs against a 5.6 kb luciferase minigene construct, encompassing exon 71 to exon 73 of human dystrophin. As a result, we identified several enhancers of exon skipping, acting on both the reporter construct as well as endogenous dystrophin in mdx cells. Multiple mechanisms of action were identified, including histone deacetylase inhibition, tubulin modulation and pre-mRNA processing. Among others, the nucleolar protein NOL8 and staufen RNA binding protein homolog 2 (Stau2 were found to induce endogenous exon skipping in mdx cells in an AON-dependent fashion. An unexpected but recurrent theme observed in our screening efforts was the apparent link between the inhibition of cell cycle progression and the induction of exon skipping.

  16. Interlaboratory validation of quantitative duplex real-time PCR method for screening analysis of genetically modified maize.

    Takabatake, Reona; Koiwa, Tomohiro; Kasahara, Masaki; Takashima, Kaori; Futo, Satoshi; Minegishi, Yasutaka; Akiyama, Hiroshi; Teshima, Reiko; Oguchi, Taichi; Mano, Junichi; Furui, Satoshi; Kitta, Kazumi

    2011-01-01

    To reduce the cost and time required to routinely perform the genetically modified organism (GMO) test, we developed a duplex quantitative real-time PCR method for a screening analysis simultaneously targeting an event-specific segment for GA21 and Cauliflower Mosaic Virus 35S promoter (P35S) segment [Oguchi et al., J. Food Hyg. Soc. Japan, 50, 117-125 (2009)]. To confirm the validity of the method, an interlaboratory collaborative study was conducted. In the collaborative study, conversion factors (Cfs), which are required to calculate the GMO amount (%), were first determined for two real-time PCR instruments, the ABI PRISM 7900HT and the ABI PRISM 7500. A blind test was then conducted. The limit of quantitation for both GA21 and P35S was estimated to be 0.5% or less. The trueness and precision were evaluated as the bias and reproducibility of the relative standard deviation (RSD(R)). The determined bias and RSD(R) were each less than 25%. We believe the developed method would be useful for the practical screening analysis of GM maize.

  17. A highly sensitive and specific method for the screening detection of genetically modified organisms based on digital PCR without pretreatment.

    Fu, Wei; Zhu, Pengyu; Wang, Chenguang; Huang, Kunlun; Du, Zhixin; Tian, Wenying; Wang, Qin; Wang, Huiyu; Xu, Wentao; Zhu, Shuifang

    2015-08-04

    Digital PCR has developed rapidly since it was first reported in the 1990 s. It was recently reported that an improved method facilitated the detection of genetically modified organisms (GMOs). However, to use this improved method, the samples must be pretreated, which could introduce inaccuracy into the results. In our study, we explored a pretreatment-free digital PCR detection method for the screening for GMOs. We chose the CaMV35s promoter and the NOS terminator as the templates in our assay. To determine the specificity of our method, 9 events of GMOs were collected, including MON810, MON863, TC1507, MIR604, MIR162, GA21, T25, NK603 and Bt176. Moreover, the sensitivity, intra-laboratory and inter-laboratory reproducibility of our detection method were assessed. The results showed that the limit of detection of our method was 0.1%, which was lower than the labeling threshold level of the EU. The specificity and stability among the 9 events were consistent, respectively. The intra-laboratory and inter-laboratory reproducibility were both good. Finally, the perfect fitness for the detection of eight double-blind samples indicated the good practicability of our method. In conclusion, the method in our study would allow more sensitive, specific and stable screening detection of the GMO content of international trading products.

  18. Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign.

    Fendler, W; Borowiec, M; Baranowska-Jazwiecka, A; Szadkowska, A; Skala-Zamorowska, E; Deja, G; Jarosz-Chobot, P; Techmanska, I; Bautembach-Minkowska, J; Mysliwiec, M; Zmyslowska, A; Pietrzak, I; Malecki, M T; Mlynarski, W

    2012-10-01

    The aim of this study was to study dynamic changes in the prevalence of different types of diabetes in paediatric populations in Poland, with a specific focus on monogenic diabetes (MD). Using epidemiologic data (PolPeDiab Collaboration) and nationwide genetic test results (TEAM Programme), we compared the prevalence of type 1, type 2 and cystic fibrosis-related diabetes (CFRD) and MD. Genetically confirmed MD included MODY, neonatal diabetes and Wolfram and Alström syndromes. The study covered all children aged 0-18 years treated for diabetes between 2005 and 2011 in three regions, inhabited by 23.7% (1,989,988) of Polish children, with a low prevalence of childhood obesity (type 1 diabetes showed a continuous increase, from 96 to 138/100,000 children. The prevalence of type 2 diabetes and CFRD also increased, from 0.3 to 1.01/100,000 children and from 0.1 to 0.95/100,000 children, respectively. The prevalence of MD was stable at between 4.2 and 4.6/100,000 children, accounting for 3.1-4.2% of children with diabetes, with glucokinase (GCK)-MODY being the most frequent type, amounting to 83% of patients with MD. The percentage of positive test results decreased with the number of referrals, suggesting that children with the highest probability of MD were referred initially, followed by those with a less clear-cut phenotype. The prevalence of neonatal diabetes equalled 1 in 300,000 children. The prevalence of MD in a paediatric population with a low prevalence of obesity remains stable and is nearly fivefold higher than that of type 2 diabetes and CFRD, justifying a need for increased access to genetic diagnostic procedures in diabetic children.

  19. Retinal photography screening programs to prevent vision loss from diabetic retinopathy in rural and urban Australia: a review.

    Tapp, Robyn J; Svoboda, Jean; Fredericks, Bronwyn; Jackson, A Jonathan; Taylor, Hugh R

    2015-02-01

    This review assessed the effectiveness of diabetic retinopathy (DR) screening programs, using retinal photography in Australian urban and rural settings, and considered implications for public health strategy and policy. An electronic search of MEDLINE, PubMed, and Embase for studies published between 1 January 1996 and the 30 June 2013 was undertaken. Key search terms were "diabetic retinopathy," "screening," "retinal photography" and "Australia." Twelve peer-reviewed publications were identified. The 14 DR screening programs identified from the 12 publications were successfully undertaken in urban, rural and remote communities across Australia. Locations included a pathology collection center, and Indigenous primary health care and Aboriginal community controlled organizations. Each intervention using retinal photography was highly effective at increasing the number of people who underwent screening for DR. The review identified that prior to commencement of the screening programs a median of 48% (range 16-85%) of those screened had not undergone a retinal examination within the recommended time frame (every year for Indigenous people and every 2 years for non-Indigenous people in Australia). A median of 16% (range 0-45%) of study participants had evidence of DR. This review has shown there have been many pilot and demonstration projects in rural and urban Australia that confirm the effectiveness of retinal photography-based screening for DR.

  20. High-Throughput Genetic Screens Identify a Large and Diverse Collection of New Sporulation Genes in Bacillus subtilis.

    Meeske, Alexander J; Rodrigues, Christopher D A; Brady, Jacqueline; Lim, Hoong Chuin; Bernhardt, Thomas G; Rudner, David Z

    2016-01-01

    The differentiation of the bacterium Bacillus subtilis into a dormant spore is among the most well-characterized developmental pathways in biology. Classical genetic screens performed over the past half century identified scores of factors involved in every step of this morphological process. More recently, transcriptional profiling uncovered additional sporulation-induced genes required for successful spore development. Here, we used transposon-sequencing (Tn-seq) to assess whether there were any sporulation genes left to be discovered. Our screen identified 133 out of the 148 genes with known sporulation defects. Surprisingly, we discovered 24 additional genes that had not been previously implicated in spore formation. To investigate their functions, we used fluorescence microscopy to survey early, middle, and late stages of differentiation of null mutants from the B. subtilis ordered knockout collection. This analysis identified mutants that are delayed in the initiation of sporulation, defective in membrane remodeling, and impaired in spore maturation. Several mutants had novel sporulation phenotypes. We performed in-depth characterization of two new factors that participate in cell-cell signaling pathways during sporulation. One (SpoIIT) functions in the activation of σE in the mother cell; the other (SpoIIIL) is required for σG activity in the forespore. Our analysis also revealed that as many as 36 sporulation-induced genes with no previously reported mutant phenotypes are required for timely spore maturation. Finally, we discovered a large set of transposon insertions that trigger premature initiation of sporulation. Our results highlight the power of Tn-seq for the discovery of new genes and novel pathways in sporulation and, combined with the recently completed null mutant collection, open the door for similar screens in other, less well-characterized processes.

  1. High-Throughput Genetic Screens Identify a Large and Diverse Collection of New Sporulation Genes in Bacillus subtilis

    Brady, Jacqueline; Lim, Hoong Chuin; Bernhardt, Thomas G.; Rudner, David Z.

    2016-01-01

    The differentiation of the bacterium Bacillus subtilis into a dormant spore is among the most well-characterized developmental pathways in biology. Classical genetic screens performed over the past half century identified scores of factors involved in every step of this morphological process. More recently, transcriptional profiling uncovered additional sporulation-induced genes required for successful spore development. Here, we used transposon-sequencing (Tn-seq) to assess whether there were any sporulation genes left to be discovered. Our screen identified 133 out of the 148 genes with known sporulation defects. Surprisingly, we discovered 24 additional genes that had not been previously implicated in spore formation. To investigate their functions, we used fluorescence microscopy to survey early, middle, and late stages of differentiation of null mutants from the B. subtilis ordered knockout collection. This analysis identified mutants that are delayed in the initiation of sporulation, defective in membrane remodeling, and impaired in spore maturation. Several mutants had novel sporulation phenotypes. We performed in-depth characterization of two new factors that participate in cell–cell signaling pathways during sporulation. One (SpoIIT) functions in the activation of σE in the mother cell; the other (SpoIIIL) is required for σG activity in the forespore. Our analysis also revealed that as many as 36 sporulation-induced genes with no previously reported mutant phenotypes are required for timely spore maturation. Finally, we discovered a large set of transposon insertions that trigger premature initiation of sporulation. Our results highlight the power of Tn-seq for the discovery of new genes and novel pathways in sporulation and, combined with the recently completed null mutant collection, open the door for similar screens in other, less well-characterized processes. PMID:26735940

  2. The genetic origins of biosynthesis and light-responsive control of the chemical UV screen of land plants

    Jorgensen, R.

    1994-01-01

    Most land plants possess the capacity to protect themselves from UV light, and do so by producing pigments that absorb efficiently in the UV-A and UV-B regions of the spectrum while allowing transmission of nearly all photosynthetically useful wavelengths. These UV-absorbing pigments are mainly phenylpropanoids and flavonoids. This chapter summarizes current understanding of the mechanism of UV protection in higher land plants, evaluates the information available from lower land plants and their green-algal relatives, and then considers the possible evolutionary origins of this use of chemical filters for selectively screening UV light from solar radiation. It is proposed that photo control over the biosynthesis of UV-absorbing phenylpropanoids and flavonoids may have evolved in concert with the evolution of the high biosynthetic activity necessary for UV protection. The toxicity of phenylpropanoids and flavonoids has been postulated to have been a barrier to the evolution of an effective chemical UV screen, and that some means for sequestering these compounds and/or for controlling their synthesis probably evolved prior to, or in concert with, the evolution of high rates of biosynthesis. The original photoreceptor and signal transduction system is speculated to have been based on photo isomerization of a phenylpropanoid ester and a pre-existing product feedback mechanism for controlling phenylpropanoid biosynthesis. Understanding the original mechanism for photo control of the chemical UV screen of land plants could be valuable for understanding the adaptability of extant land plants to rising levels of solar UV-B radiation and may suggest genetic strategies for engineering improved UV tolerance in crop plants. (author)

  3. NeuroChip: a microfluidic electrophysiological device for genetic and chemical biology screening of Caenorhabditis elegans adult and larvae.

    Chunxiao Hu

    Full Text Available Genetic and chemical biology screens of C. elegans have been of enormous benefit in providing fundamental insight into neural function and neuroactive drugs. Recently the exploitation of microfluidic devices has added greater power to this experimental approach providing more discrete and higher throughput phenotypic analysis of neural systems. Here we make a significant addition to this repertoire through the design of a semi-automated microfluidic device, NeuroChip, which has been optimised for selecting worms based on the electrophysiological features of the pharyngeal neural network. We demonstrate this device has the capability to sort mutant from wild-type worms based on high definition extracellular electrophysiological recordings. NeuroChip resolves discrete differences in excitatory, inhibitory and neuromodulatory components of the neural network from individual animals. Worms may be fed into the device consecutively from a reservoir and recovered unharmed. It combines microfluidics with integrated electrode recording for sequential trapping, restraining, recording, releasing and recovering of C. elegans. Thus mutant worms may be selected, recovered and propagated enabling mutagenesis screens based on an electrophysiological phenotype. Drugs may be rapidly applied during the recording thus permitting compound screening. For toxicology, this analysis can provide a precise description of sub-lethal effects on neural function. The chamber has been modified to accommodate L2 larval stages showing applicability for small size nematodes including parasitic species which otherwise are not tractable to this experimental approach. We also combine NeuroChip with optogenetics for targeted interrogation of the function of the neural circuit. NeuroChip thus adds a new tool for exploitation of C. elegans and has applications in neurogenetics, drug discovery and neurotoxicology.

  4. A genetic screen identifies Tor as an interactor of VAPB in a Drosophila model of amyotrophic lateral sclerosis

    Senthilkumar Deivasigamani

    2014-10-01

    Full Text Available Amyotrophic Lateral Sclerosis (ALS is a progressive neurodegenerative disorder characterized by selective death of motor neurons. In 5–10% of the familial cases, the disease is inherited because of mutations. One such mutation, P56S, was identified in human VAPB that behaves in a dominant negative manner, sequestering wild type protein into cytoplasmic inclusions. We have conducted a reverse genetic screen to identify interactors of Drosophila VAPB. We screened 2635 genes and identified 103 interactors, of which 45 were enhancers and 58 were suppressors of VAPB function. Interestingly, the screen identified known ALS loci – TBPH, alsin2 and SOD1. Also identified were genes involved in cellular energetics and homeostasis which were used to build a gene regulatory network of VAPB modifiers. One key modifier identified was Tor, whose knockdown reversed the large bouton phenotype associated with VAP(P58S expression in neurons. A similar reversal was seen by over-expressing Tuberous Sclerosis Complex (Tsc1,2 that negatively regulates TOR signaling as also by reduction of S6K activity. In comparison, the small bouton phenotype associated with VAP(wt expression was reversed with Tsc1 knock down as well as S6K-CA expression. Tor therefore interacts with both VAP(wt and VAP(P58S, but in a contrasting manner. Reversal of VAP(P58S bouton phenotypes in larvae fed with the TOR inhibitor Rapamycin suggests upregulation of TOR signaling in response to VAP(P58S expression. The VAPB network and further mechanistic understanding of interactions with key pathways, such as the TOR cassette, will pave the way for a better understanding of the mechanisms of onset and progression of motor neuron disease.

  5. A genetic screen identifies Tor as an interactor of VAPB in a Drosophila model of amyotrophic lateral sclerosis.

    Deivasigamani, Senthilkumar; Verma, Hemant Kumar; Ueda, Ryu; Ratnaparkhi, Anuradha; Ratnaparkhi, Girish S

    2014-10-31

    Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder characterized by selective death of motor neurons. In 5-10% of the familial cases, the disease is inherited because of mutations. One such mutation, P56S, was identified in human VAPB that behaves in a dominant negative manner, sequestering wild type protein into cytoplasmic inclusions. We have conducted a reverse genetic screen to identify interactors of Drosophila VAPB. We screened 2635 genes and identified 103 interactors, of which 45 were enhancers and 58 were suppressors of VAPB function. Interestingly, the screen identified known ALS loci - TBPH, alsin2 and SOD1. Also identified were genes involved in cellular energetics and homeostasis which were used to build a gene regulatory network of VAPB modifiers. One key modifier identified was Tor, whose knockdown reversed the large bouton phenotype associated with VAP(P58S) expression in neurons. A similar reversal was seen by over-expressing Tuberous Sclerosis Complex (Tsc1,2) that negatively regulates TOR signaling as also by reduction of S6K activity. In comparison, the small bouton phenotype associated with VAP(wt) expression was reversed with Tsc1 knock down as well as S6K-CA expression. Tor therefore interacts with both VAP(wt) and VAP(P58S), but in a contrasting manner. Reversal of VAP(P58S) bouton phenotypes in larvae fed with the TOR inhibitor Rapamycin suggests upregulation of TOR signaling in response to VAP(P58S) expression. The VAPB network and further mechanistic understanding of interactions with key pathways, such as the TOR cassette, will pave the way for a better understanding of the mechanisms of onset and progression of motor neuron disease. © 2014. Published by The Company of Biologists Ltd.

  6. [Verification of doubtful PAP smear results of women included in the screening program in the Podlaskie province].

    Błońska, Ewa; Knapp, Piotr Andrzej

    2013-08-01

    Verification of uncertain PAP-smear results in a group of women covered by the cervical screening program in the Podlaski province. The main aim of the study was to identify CIN (Cervical Intraepithelial Neoplasia) lesions present, with varying degrees of severity in women with cytological diagnosis of ASCUS (atypical squamous cells of undetermined significance), LSIL (low grade squamous intraepithelial lesion), and ASC-H (atypical squamous cells - cannot exclude high grade squamous intraepithelial lesion). The study evaluated 101 cervical smears taken from the vaginal part of the cervix in a group of screened women in the Podlaski province. Cytological evaluation was performed according the Bethesda System. We analyzed abnormal smears selected from a total of 7296 cytological examinations performed during 2012 at the University Center for Pathomorphological and Genetic - Molecular Diagnosis, Medical University in Białystok. The cytological results which were of interest to us included 19 cases with ASCUS, 59 with LSIL, and 23 with ASC-H, as well as with morphological features of the presence of Human Papilloma Virus (HPV). Staining was performed using CINtecPLUS test according to the manufacturer's instructions. CINtecPLUS is a immunocytochemical test based on specially designed monoclonal antibodies (E6H4TM) that let us identify protein p16ink4a within the cervical smear Additionally the diagnostic kit was provided with antibodies for diagnosing the presence of Ki-67 protein, a known marker of cell proliferation. The result was considered positive when staining of the nucleus and the cytoplasm appeared in red and brown, respectively. All abnormal results were eventually verified by histological examination of the tissue taken from cervical lesions by diagnostic-therapeutic procedure following colposcopic evaluation of cervical lesion topography In the group of cytological smears with ASCUS, the diagnosis was positive in 5 cases (26.3%), negative in 14 (73

  7. A genetic screen for anchorage-independent proliferation in mammalian cells identifies a membrane-bound neuregulin.

    Davide Danovi

    2010-07-01

    Full Text Available Anchorage-independent proliferation is a hallmark of oncogenic transformation and is thought to be conducive to proliferation of cancer cells away from their site of origin. We have previously reported that primary Schwann cells expressing the SV40 Large T antigen (LT are not fully transformed in that they maintain a strict requirement for attachment, requiring a further genetic change, such as oncogenic Ras, to gain anchorage-independence. Using the LT-expressing cells, we performed a genetic screen for anchorage-independent proliferation and identified Sensory and Motor Neuron Derived Factor (SMDF, a transmembrane class III isoform of Neuregulin 1. In contrast to oncogenic Ras, SMDF induced enhanced proliferation in normal primary Schwann cells but did not trigger cellular senescence. In cooperation with LT, SMDF drove anchorage-independent proliferation, loss of contact inhibition and tumourigenicity. This transforming ability was shared with membrane-bound class III but not secreted class I isoforms of Neuregulin, indicating a distinct mechanism of action. Importantly, we show that despite being membrane-bound signalling molecules, class III neuregulins transform via a cell intrinsic mechanism, as a result of constitutive, elevated levels of ErbB signalling at high cell density and in anchorage-free conditions. This novel transforming mechanism may provide new targets for cancer therapy.

  8. A genetic screen for vascular mutants in zebrafish reveals dynamic roles for Vegf/Plcg1 signaling during artery development.

    Covassin, L D; Siekmann, A F; Kacergis, M C; Laver, E; Moore, J C; Villefranc, J A; Weinstein, B M; Lawson, N D

    2009-05-15

    In this work we describe a forward genetic approach to identify mutations that affect blood vessel development in the zebrafish. By applying a haploid screening strategy in a transgenic background that allows direct visualization of blood vessels, it was possible to identify several classes of mutant vascular phenotypes. Subsequent characterization of mutant lines revealed that defects in Vascular endothelial growth factor (Vegf) signaling specifically affected artery development. Comparison of phenotypes associated with different mutations within a functional zebrafish Vegf receptor-2 ortholog (referred to as kdr-like, kdrl) revealed surprisingly varied effects on vascular development. In parallel, we identified an allelic series of mutations in phospholipase c gamma 1 (plcg1). Together with in vivo structure-function analysis, our results suggest a requirement for Plcg1 catalytic activity downstream of receptor tyrosine kinases. We further find that embryos lacking both maternal and zygotic plcg1 display more severe defects in artery differentiation but are otherwise similar to zygotic mutants. Finally, we demonstrate through mosaic analysis that plcg1 functions autonomously in endothelial cells. Together our genetic analyses suggest that Vegf/Plcg1 signaling acts at multiple time points and in different signaling contexts to mediate distinct aspects of artery development.

  9. A genetic screen of the mutations in the Korean patients with early-onset Alzheimer’s disease

    An SS

    2016-12-01

    Full Text Available Seong Soo An,1,* Sun Ah Park,2,* Eva Bagyinszky,1 Sun Oh Bae,1 Yoon-Jeong Kim,2 Ji Young Im,2 Kyung Won Park,3 Kee Hyung Park,4 Eun-Joo Kim,5 Jee Hyang Jeong,6 Jong Hun Kim,7 Hyun Jeong Han,8 Seong Hye Choi,9 SangYun Kim10 1Department of Bionano Technology, Gachon University, Seongnam-si, 2Department of Neurology, Soonchunhyang University Bucheon Hospital, Bucheon, 3Department of Neurology, Dong-A University College of Medicine and Institute of Convergence Bio-Health, Busan, 4Department of Neurology, Gachon University Gil Medical Center, Incheon, 5Department of Neurology, Pusan National University Hospital, Busan, 6Department of Neurology, Ewha Womans University Mokdong Hospital, Seoul, 7Department of Neurology, Ilsan Hospital, National Health Insurance Corporation, 8Department of Neurology, Myongii Hospital, Goyang, 9Department of Neurology, Inha University School of Medicine, Incheon, 10Department of Neurology, Seoul National University College of Medicine & Neurocognitive Behavior Center, Seoul National University Bundang Hospital, Seongnam-si, Republic of Korea *These authors contributed equally to this work Abstract: Early-onset Alzheimer’s disease (EOAD has distinct clinical characteristics in comparison to late-onset Alzheimer’s disease (LOAD. The genetic contribution is suggested to be more potent in EOAD. However, the frequency of causative mutations in EOAD could be variable depending on studies. Moreover, no mutation screening study has been performed yet employing large population in Korea. Previously, we reported that the rate of family history of dementia in EOAD patients was 18.7% in a nationwide hospital-based cohort study, the Clinical Research Center for Dementia of South Korea (CREDOS study. This rate is much lower than in other countries and is even comparable to the frequency of LOAD patients in our country. To understand the genetic characteristics of EOAD in Korea, we screened the common Alzheimer’s disease (AD

  10. Cost-effectiveness and budget impact analysis of a population-based screening program for colorectal cancer.

    Pil, L; Fobelets, M; Putman, K; Trybou, J; Annemans, L

    2016-07-01

    Colorectal cancer (CRC) is one of the leading causes of cancer mortality in Belgium. In Flanders (Belgium), a population-based screening program with a biennial immunochemical faecal occult blood test (iFOBT) in women and men aged 56-74 has been organised since 2013. This study assessed the cost-effectiveness and budget impact of the colorectal population-based screening program in Flanders (Belgium). A health economic model was conducted, consisting of a decision tree simulating the screening process and a Markov model, with a time horizon of 20years, simulating natural progression. Predicted mortality and incidence, total costs, and quality-adjusted life-years (QALYs) with and without the screening program were calculated in order to determine the incremental cost-effectiveness ratio of CRC screening. Deterministic and probabilistic sensitivity analyses were conducted, taking into account uncertainty of the model parameters. Mortality and incidence were predicted to decrease over 20years. The colorectal screening program in Flanders is found to be cost-effective with an ICER of 1681/QALY (95% CI -1317 to 6601) in males and €4,484/QALY (95% CI -3254 to 18,163). The probability of being cost-effective given a threshold of €35,000/QALY was 100% and 97.3%, respectively. The budget impact analysis showed the extra cost for the health care payer to be limited. This health economic analysis has shown that despite the possible adverse effects of screening and the extra costs for the health care payer and the patient, the population-based screening program for CRC in Flanders is cost-effective and should therefore be maintained. Copyright © 2016 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.

  11. Screening and genetic improvement of pectinolytic fungi for degumming of textile fibers

    Molina Silvia M.G.

    2001-01-01

    Full Text Available Aiming at contributing to technological improvements in plant fiber processing methods, this paper reports research work on the obtainment of more efficient pectinase-producing fungi strains. More specifically, this work reports the analysis of 18 strains of filamentous fungi, with the purpose of obtaining enzymes for textile fibers degumming. The strains were evaluated for production of pectinolytic enzymes under several growth conditions (culture medium and growth temperature. Production of pectinases was measured by an enzymatic index (EI in solid pectin medium. Among the tested strains, Penicillium chrysogenum IFO 4626 (Q 176 showed the best performance. Genetic improvement of this strain was carried out to increase its pectinase production, while keeping cellulase activity down to a negligible level, since cellulases are known to decrease the resistance of the fiber. Variability was induced through several cycles of mutation and selection by exposing conidea to ultra-violet light (UV. We selected 39 out of 390 isolated colonies. Resulting mutants produced nine times more pectin lyase (PL than the original strain in terms of PL specific activity, and five times more in terms of PL activity (i.e. mmoles liberated per minute of reaction per mL of medium. Periodically, mutant performance was evaluated in solid pectin medium. Genetic stability was maintained for four years after isolation.

  12. Screening and genetic diagnosis of Hemoglobinopathies in Southern and Northern Europe: Two examples

    Antonio Amato

    2009-08-01

    Full Text Available Prevention of Hemoglobinopathies has developed around the world based upon the experience done in pioneering endemic countries and is now facing a new phase in non-endemic areas with a recent immigration history. We describe two situations, taking Latium (central Italy and The Netherlands as two models for endemic and non-endemic countries both confronted with a large multi-ethnic immigrant society. We present prevention results and discuss aspects such as local knowledge and organization. We illustrate the importance of issues like information, carrier diagnostics, screening, counseling and prenatal diagnosis in particular situation of contrasting interest an different ethical opinions. We conclude by underlining the importance of implementing primary prevention at the European level, based upon better information, diagnostics and counseling.

  13. Genetic screening strategy for rapid access to polyether ionophore producers and products in actinomycetes.

    Wang, Hao; Liu, Ning; Xi, Lijun; Rong, Xiaoying; Ruan, Jisheng; Huang, Ying

    2011-05-01

    Polyether ionophores are a unique class of polyketides with broad-spectrum activity and outstanding potency for the control of drug-resistant bacteria and parasites, and they are produced exclusively by actinomycetes. A special epoxidase gene encoding a critical tailoring enzyme involved in the biosynthesis of these compounds has been found in all five of the complete gene clusters of polyether ionophores published so far. To detect potential producer strains of these antibiotics, a pair of degenerate primers was designed according to the conserved regions of the five known polyether epoxidases. A total of 44 putative polyether epoxidase gene-positive strains were obtained by the PCR-based screening of 1,068 actinomycetes isolated from eight different habitats and 236 reference strains encompassing eight major families of Actinomycetales. The isolates spanned a wide taxonomic diversity based on 16S rRNA gene analysis, and actinomycetes isolated from acidic soils seemed to be a promising source of polyether ionophores. Four genera were detected to contain putative polyether epoxidases, including Micromonospora, which has not previously been reported to produce polyether ionophores. The designed primers also detected putative epoxidase genes from diverse known producer strains that produce polyether ionophores unrelated to the five published gene clusters. Moreover, phylogenetic and chemical analyses showed a strong correlation between the sequence of polyether epoxidases and the structure of encoded polyethers. Thirteen positive isolates were proven to be polyether ionophore producers as expected, and two new analogues were found. These results demonstrate the feasibility of using this epoxidase gene screening strategy to aid the rapid identification of known products and the discovery of unknown polyethers in actinomycetes.

  14. Genetic Screening Strategy for Rapid Access to Polyether Ionophore Producers and Products in Actinomycetes ▿ †

    Wang, Hao; Liu, Ning; Xi, Lijun; Rong, Xiaoying; Ruan, Jisheng; Huang, Ying

    2011-01-01

    Polyether ionophores are a unique class of polyketides with broad-spectrum activity and outstanding potency for the control of drug-resistant bacteria and parasites, and they are produced exclusively by actinomycetes. A special epoxidase gene encoding a critical tailoring enzyme involved in the biosynthesis of these compounds has been found in all five of the complete gene clusters of polyether ionophores published so far. To detect potential producer strains of these antibiotics, a pair of degenerate primers was designed according to the conserved regions of the five known polyether epoxidases. A total of 44 putative polyether epoxidase gene-positive strains were obtained by the PCR-based screening of 1,068 actinomycetes isolated from eight different habitats and 236 reference strains encompassing eight major families of Actinomycetales. The isolates spanned a wide taxonomic diversity based on 16S rRNA gene analysis, and actinomycetes isolated from acidic soils seemed to be a promising source of polyether ionophores. Four genera were detected to contain putative polyether epoxidases, including Micromonospora, which has not previously been reported to produce polyether ionophores. The designed primers also detected putative epoxidase genes from diverse known producer strains that produce polyether ionophores unrelated to the five published gene clusters. Moreover, phylogenetic and chemical analyses showed a strong correlation between the sequence of polyether epoxidases and the structure of encoded polyethers. Thirteen positive isolates were proven to be polyether ionophore producers as expected, and two new analogues were found. These results demonstrate the feasibility of using this epoxidase gene screening strategy to aid the rapid identification of known products and the discovery of unknown polyethers in actinomycetes. PMID:21421776

  15. Implementing a Fee-for-Service Cervical Cancer Screening and Treatment Program in Cameroon: Challenges and Opportunities.

    DeGregorio, Geneva; Manga, Simon; Kiyang, Edith; Manjuh, Florence; Bradford, Leslie; Cholli, Preetam; Wamai, Richard; Ogembo, Rebecca; Sando, Zacharie; Liu, Yuxin; Sheldon, Lisa Kennedy; Nulah, Kathleen; Welty, Thomas; Welty, Edith; Ogembo, Javier Gordon

    2017-07-01

    Cervical cancer screening is one of the most effective cancer prevention strategies, but most women in Africa have never been screened. In 2007, the Cameroon Baptist Convention Health Services, a large faith-based health care system in Cameroon, initiated the Women's Health Program (WHP) to address this disparity. The WHP provides fee-for-service cervical cancer screening using visual inspection with acetic acid enhanced by digital cervicography (VIA-DC), prioritizing care for women living with HIV/AIDS. They also provide clinical breast examination, family planning (FP) services, and treatment for reproductive tract infection (RTI). Here, we document the strengths and challenges of the WHP screening program and the unique aspects of the WHP model, including a fee-for-service payment system and the provision of other women's health services. We retrospectively reviewed WHP medical records from women who presented for cervical cancer screening from 2007-2014. In 8 years, WHP nurses screened 44,979 women for cervical cancer. The number of women screened increased nearly every year. The WHP is sustained primarily on fees-for-service, with external funding totaling about $20,000 annually. In 2014, of 12,191 women screened for cervical cancer, 99% received clinical breast exams, 19% received FP services, and 4.7% received treatment for RTIs. We document successes, challenges, solutions implemented, and recommendations for optimizing this screening model. The WHP's experience using a fee-for-service model for cervical cancer screening demonstrates that in Cameroon VIA-DC is acceptable, feasible, and scalable and can be nearly self-sustaining. Integrating other women's health services enabled women to address additional health care needs. The Cameroon Baptist Convention Health Services Women's Health Program successfully implemented a nurse-led, fee-for-service cervical cancer screening program using visual inspection with acetic acid-enhanced by digital cervicography in

  16. Genetic algorithms and genetic programming for multiscale modeling: Applications in materials science and chemistry and advances in scalability

    Sastry, Kumara Narasimha

    2007-03-01

    Effective and efficient rnultiscale modeling is essential to advance both the science and synthesis in a, wide array of fields such as physics, chemistry, materials science; biology, biotechnology and pharmacology. This study investigates the efficacy and potential of rising genetic algorithms for rnultiscale materials modeling and addresses some of the challenges involved in designing competent algorithms that solve hard problems quickly, reliably and accurately. In particular, this thesis demonstrates the use of genetic algorithms (GAs) and genetic programming (GP) in multiscale modeling with the help of two non-trivial case studies in materials science and chemistry. The first case study explores the utility of genetic programming (GP) in multi-timescaling alloy kinetics simulations. In essence, GP is used to bridge molecular dynamics and kinetic Monte Carlo methods to span orders-of-magnitude in simulation time. Specifically, GP is used to regress symbolically an inline barrier function from a limited set of molecular dynamics simulations to enable kinetic Monte Carlo that simulate seconds of real time. Results on a non-trivial example of vacancy-assisted migration on a surface of a face-centered cubic (fcc) Copper-Cobalt (CuxCo 1-x) alloy show that GP predicts all barriers with 0.1% error from calculations for less than 3% of active configurations, independent of type of potentials used to obtain the learning set of barriers via molecular dynamics. The resulting method enables 2--9 orders-of-magnitude increase in real-time dynamics simulations taking 4--7 orders-of-magnitude less CPU time. The second case study presents the application of multiobjective genetic algorithms (MOGAs) in multiscaling quantum chemistry simulations. Specifically, MOGAs are used to bridge high-level quantum chemistry and semiempirical methods to provide accurate representation of complex molecular excited-state and ground-state behavior. Results on ethylene and benzene---two common

  17. Patient and Clinician Perspectives on Shared Decision-making in Early Adopting Lung Cancer Screening Programs: a Qualitative Study.

    Wiener, Renda Soylemez; Koppelman, Elisa; Bolton, Rendelle; Lasser, Karen E; Borrelli, Belinda; Au, David H; Slatore, Christopher G; Clark, Jack A; Kathuria, Hasmeena

    2018-02-21

    Guidelines recommend, and Medicare requires, shared decision-making between patients and clinicians before referring individuals at high risk of lung cancer for chest CT screening. However, little is known about the extent to which shared decision-making about lung cancer screening is achieved in real-world settings. To characterize patient and clinician impressions of early experiences with communication and decision-making about lung cancer screening and perceived barriers to achieving shared decision-making. Qualitative study entailing semi-structured interviews and focus groups. We enrolled 36 clinicians who refer patients for lung cancer screening and 49 patients who had undergone lung cancer screening in the prior year. Participants were recruited from lung cancer screening programs at four hospitals (three Veterans He