Screening for genetically modified organisms sequences in food ...

African Journals Online (AJOL)

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 ...

Advances in preimplantation genetic diagnosis/screening.

Science.gov (United States)

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.

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening

Directory of Open Access Journals (Sweden)

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

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

Science.gov (United States)

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

Screening diagnostic program breast cancer

International Nuclear Information System (INIS)

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.,

New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening.

Science.gov (United States)

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

Evaluation of a workplace hemochromatosis screening program.

Science.gov (United States)

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.

Scientific discovery using genetic programming

DEFF Research Database (Denmark)

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...

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

Directory of Open Access Journals (Sweden)

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

Carrier screening in the era of expanding genetic technology.

Science.gov (United States)

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.

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

Science.gov (United States)

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.

Impact of a public cholesterol screening program.

Science.gov (United States)

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.

Preimplantation genetic screening: back to the future

NARCIS (Netherlands)

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

Counselling considerations for chromosomal mosaicism detected by preimplantation genetic screening.

Science.gov (United States)

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.

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

NARCIS (Netherlands)

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

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

Science.gov (United States)

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

Genetic programming in microorganisms

Energy Technology Data Exchange (ETDEWEB)

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.

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

OpenAIRE

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...

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

Science.gov (United States)

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.

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

DEFF Research Database (Denmark)

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....

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

Genetic screens to identify new Notch pathway mutants in Drosophila.

Science.gov (United States)

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.

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

Science.gov (United States)

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).

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

Science.gov (United States)

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.

Medical and lay attitudes towards genetic screening and testing in Finland

DEFF Research Database (Denmark)

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

2003-01-01

The purpose of this study was to compare physicians', midwives' and lay people's attitudes towards genetic screening and testing to find out whether medical education and experience influence attitudes of genetic screening and testing. The study was based on comparison of answers to joint questions...... in three different cross-sectional postal surveys between October 1996 and April 1998 in Finland. Target groups were physicians (study base n=772, response rate 74%, including gynaecologists, paediatricians, general practitioners and clinical geneticists), midwives and public health nurses (collectively...

Creation of a National, At-home Model for Ashkenazi Jewish Carrier Screening.

Science.gov (United States)

Grinzaid, Karen Arnovitz; Page, Patricia Zartman; Denton, Jessica Johnson; Ginsberg, Jessica

2015-06-01

Ethnicity-based carrier screening for the Ashkenazi Jewish population has been available and encouraged by advocacy and community groups since the early 1970's. Both the American College of Medical Genetics and the American Congress of Obstetricians and Gynecologists recommend carrier screening for this population (Obstetrics and Gynecology, 114(4), 950-953, 2009; Genetics in Medicine, 10(1), 55-56, 2008). While many physicians inquire about ethnic background and offer appropriate carrier screening, studies show that a gap remains in implementing recommendations (Genetic testing and molecular biomarkers, 2011). In addition, education and outreach efforts targeting Jewish communities have had limited success in reaching this at-risk population. Despite efforts by the medical and Jewish communities, many Jews of reproductive age are not aware of screening, and remain at risk for having children with preventable diseases. Reaching this population, preferably pre-conception, and facilitating access to screening is critically important. To address this need, genetic counselors at Emory University developed JScreen, a national Jewish genetic disease screening program. The program includes a national marketing and PR campaign, online education, at-home saliva-based screening, post-test genetic counseling via telephone or secure video conferencing, and referrals for face-to-face genetic counseling as needed. Our goals are to create a successful education and screening program for this population and to develop a model that could potentially be used for other at-risk populations.

Hybrid of Genetic Programming with PBIL

International Nuclear Information System (INIS)

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)

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

Science.gov (United States)

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.

Rapid Recombination Mapping for High-Throughput Genetic Screens in Drosophila

OpenAIRE

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...

Applications of Genetic Programming

DEFF Research Database (Denmark)

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....

The mammography screening employee inreach program.

Science.gov (United States)

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.

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

Energy Technology Data Exchange (ETDEWEB)

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

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

International Nuclear Information System (INIS)

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

Genetic screening for infertility: When should it be done?

Directory of Open Access Journals (Sweden)

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.

Cancer Screening and Genetics: A Tale of Two Paradigms

OpenAIRE

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...

The direct cost of "Thriasio" school screening program

Directory of Open Access Journals (Sweden)

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.

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

Science.gov (United States)

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

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 record-basedanalysis of subjects who underwent screening for hemoglobinopathies in Burdwan Medical College and Hospital over a period of 3 years and 4 months revealed that overall 29.3% of subjects were positive for hemoglobinopathies. Beta thalassemia heterozygous was the most commonhemoglobinopathy in this region closely followed by hemoglobin E heterozygous. In view of high prevalence of hemoglobinopathies in this region, a routine premarital screening program is needed for identification and prevention of high-risk marriages.

Amblyopia prevention screening program in Northwest Iran (Ardabil

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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.

Linear genetic programming

CERN Document Server

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

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

International Nuclear Information System (INIS)

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

Cervical cancer screening programs in Latin America and the Caribbean.

Science.gov (United States)

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.

The Potential Cost-Effectiveness of Amblyopia Screening Programs

Science.gov (United States)

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

Current and future role of genetic screening in gynecologic malignancies.

Science.gov (United States)

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.

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

Science.gov (United States)

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

Quality control in screening programs for cervical cancer

International Nuclear Information System (INIS)

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

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

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

Directory of Open Access Journals (Sweden)

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.

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

Science.gov (United States)

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.

Overcoming barriers in HPV vaccination and screening programs

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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

Smoking cessation results in a clinical lung cancer screening program.

Science.gov (United States)

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

Genetic programming theory and practice XII

CERN Document Server

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

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

Science.gov (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.

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

Recent advances in preimplantation genetic diagnosis and screening.

Science.gov (United States)

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.

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

Directory of Open Access Journals (Sweden)

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.

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

Science.gov (United States)

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.

Behavioral program synthesis with genetic programming

CERN Document Server

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...

Corporate-sponsored low-cost screening program at the workplace

International Nuclear Information System (INIS)

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

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

Science.gov (United States)

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

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

Science.gov (United States)

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.

Genetic diversity of Colletotrichum gloeosporioides in Nigeria using ...

African Journals Online (AJOL)

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.

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

Science.gov (United States)

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.

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

Energy Technology Data Exchange (ETDEWEB)

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.

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

Adult hearing screening: the Cyprus Pilot Program

Directory of Open Access Journals (Sweden)

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.

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

Science.gov (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

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

Science.gov (United States)

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.

Genetic Network Programming with Reconstructed Individuals

Science.gov (United States)

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.

Developing robotic behavior using a genetic programming model

International Nuclear Information System (INIS)

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

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

Science.gov (United States)

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

Testing the Structure of Hydrological Models using Genetic Programming

Science.gov (United States)

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.

Testing the structure of a hydrological model using Genetic Programming

Science.gov (United States)

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.

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

Science.gov (United States)

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

Fundus Autofluorescence Imaging in an Ocular Screening Program

Directory of Open Access Journals (Sweden)

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.

Fundus autofluorescence imaging in an ocular screening program.

Science.gov (United States)

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.

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.

Science.gov (United States)

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

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

OpenAIRE

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...

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

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

Directory of Open Access Journals (Sweden)

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

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

Indian Academy of Sciences (India)

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 ...

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

Science.gov (United States)

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.

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

Science.gov (United States)

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

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

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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.

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

Science.gov (United States)

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.

Genetics and bioethics: how our thinking has changed since 1969.

Science.gov (United States)

Walters, LeRoy

2012-02-01

In 1969, the field of human genetics was in its infancy. Amniocentesis was a new technique for prenatal diagnosis, and a newborn genetic screening program had been established in one state. There were also concerns about the potential hazards of genetic engineering. A research group at the Hastings Center and Paul Ramsey pioneered in the discussion of genetics and bioethics. Two principal techniques have emerged as being of enduring importance: human gene transfer research and genetic testing and screening. This essay tracks the development and use of these techniques and considers the ethical issues that they raise.

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

International Nuclear Information System (INIS)

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

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

African Journals Online (AJOL)

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.

Genetics Education in Nurse Residency Programs: A Natural Fit.

Science.gov (United States)

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.

A comprehensive platform for highly multiplexed mammalian functional genetic screens

Directory of Open Access Journals (Sweden)

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.

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

Science.gov (United States)

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.

Basic elements for breast screening programs for Rwanda

International Nuclear Information System (INIS)

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

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

Science.gov (United States)

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

Indicators for monitoring screening programs with primary HPV test.

Science.gov (United States)

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

Pooled-matrix protein interaction screens using Barcode Fusion Genetics.

Science.gov (United States)

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.

Screening of spontaneous castor bean accesses for genetic ...

African Journals Online (AJOL)

... 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, ...

Preimplantation genetic diagnosis and screening: Current status and future challenges

Directory of Open Access Journals (Sweden)

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.

Genetic Programming for Medicinal Plant Family Identification System

Directory of Open Access Journals (Sweden)

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%.

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

Science.gov (United States)

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.

A Call to Include Severe Combined Immunodeficiency in Newborn Screening Program

OpenAIRE

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...

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

Science.gov (United States)

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.

Current Screening Procedures for the Usher Syndrome at Residential Schools for the Deaf.

Science.gov (United States)

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)

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

Directory of Open Access Journals (Sweden)

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

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

Directory of Open Access Journals (Sweden)

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.

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

'A low risk is still a risk': exploring women's attitudes towards genetic testing for breast cancer susceptibility in order to target disease prevention

NARCIS (Netherlands)

Henneman, L.; Timmermans, D. R.; Bouwman, C. M.; Cornel, M. C.; Meijers-Heijboer, H.

2011-01-01

Population breast cancer screening programs by mammography are offered to women based on age. It has been suggested that a screening program based on genetic risk profile could be more effective by targeting interventions at those at higher genetic risk. This study explores women's attitudes towards

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

Science.gov (United States)

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.

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

NARCIS (Netherlands)

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

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

Science.gov (United States)

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

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

DEFF Research Database (Denmark)

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...

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

Energy Technology Data Exchange (ETDEWEB)

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.

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

Science.gov (United States)

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

Community Genetics: a new discipline and its application in Brazil

Directory of Open Access Journals (Sweden)

Antonio Sérgio Ramalho

Full Text Available Community genetics is a new discipline which aims to provide genetic services to the community as a whole. As a science, community genetics encompasses all research needed to develop and evaluate its application. There is no question that the development of community genetics is necessary in Brazil. The implementation of such programs in our country, especially for hemoglobinopathies, has been recommended by the World Health Organization and other international organizations. Apart from the need for and appeal of community genetics programs, some aspects require serious review. This article discusses various cultural, social, psychological, and economic factors that can make genetic screening an invasion of individual privacy

Community Genetics: a new discipline and its application in Brazil

Directory of Open Access Journals (Sweden)

Ramalho Antonio Sérgio

2000-01-01

Full Text Available Community genetics is a new discipline which aims to provide genetic services to the community as a whole. As a science, community genetics encompasses all research needed to develop and evaluate its application. There is no question that the development of community genetics is necessary in Brazil. The implementation of such programs in our country, especially for hemoglobinopathies, has been recommended by the World Health Organization and other international organizations. Apart from the need for and appeal of community genetics programs, some aspects require serious review. This article discusses various cultural, social, psychological, and economic factors that can make genetic screening an invasion of individual privacy

Colorectal Cancer in Iran: Molecular Epidemiology and Screening Strategies

Directory of Open Access Journals (Sweden)

Roya Dolatkhah

2015-01-01

Full Text Available Purpose. The increasing incidence of colorectal cancer (CRC in the past three decades in Iran has made it a major public health burden. This study aimed to report its epidemiologic features, molecular genetic aspects, survival, heredity, and screening pattern in Iran. Methods. A comprehensive literature review was conducted to identify the relevant published articles. We used medical subject headings, including colorectal cancer, molecular genetics, KRAS and BRAF mutations, screening, survival, epidemiologic study, and Iran. Results. Age standardized incidence rate of Iranian CRCs was 11.6 and 10.5 for men and women, respectively. Overall five-year survival rate was 41%, and the proportion of CRC among the younger age group was higher than that of western countries. Depending on ethnicity, geographical region, dietary, and genetic predisposition, mutation genes were considerably diverse and distinct among CRCs across Iran. The high occurrence of CRC in records of relatives of CRC patients showed that family history of CRC was more common among young CRCs. Conclusion. Appropriate screening strategies for CRC which is amenable to early detection through screening, especially in relatives of CRCs, should be considered as the first step in CRC screening programs.

Colorectal Cancer in Iran: Molecular Epidemiology and Screening Strategies

International Nuclear Information System (INIS)

Dolatkhah, R.; Somi, M. H.; Dolatkhah, R.; Kermani, I. A.; Dastgiri, S.

2015-01-01

The increasing incidence of colorectal cancer (CRC) in the past three decades in Iran has made it a major public health burden. This study aimed to report its epidemiologic features, molecular genetic aspects, survival, heredity, and screening pattern in Iran. Methods. A comprehensive literature review was conducted to identify the relevant published articles. We used medical subject headings, including colorectal cancer, molecular genetics, KRAS and BRAF mutations, screening, survival, epidemiologic study, and Iran. Results. Age standardized incidence rate of Iranian CRCs was 11.6 and 10.5 for men and women, respectively. Overall five-year survival rate was 41%, and the proportion of CRC among the younger age group was higher than that of western countries. Depending on ethnicity, geographical region, dietary, and genetic predisposition, mutation genes were considerably diverse and distinct among CRCs across Iran. The high occurrence of CRC in records of relatives of CRC patients showed that family history of CRC was more common among young CRCs. Conclusion. Appropriate screening strategies for CRC which is amenable to early detection through screening, especially in relatives of CRCs, should be considered as the first step in CRC screening programs.

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

Directory of Open Access Journals (Sweden)

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.

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

Science.gov (United States)

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

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

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

Directory of Open Access Journals (Sweden)

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.

CDC’s Newborn Screening Program - Role of Laboratories

Centers for Disease Control (CDC) Podcasts

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.

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

Energy Technology Data Exchange (ETDEWEB)

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.

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

Science.gov (United States)

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.

Genetic variability and heritability studies of some reproductive traits ...

African Journals Online (AJOL)

GRACE

2006-07-03

Jul 3, 2006 ... The success of most crop improvement programs largely depends upon the genetic variability and the heritability of desirable traits. The magnitude and type of genetic variability help the breeder to determine the selection criteria and breeding schemes to be used for improvement purposes. A screen.

Phenylketonuria Genetic Screening Simulation

Science.gov (United States)

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…

Expanded newborn screening: social and ethical issues.

Science.gov (United States)

Dhondt, Jean-Louis

2010-10-01

Newborn screening and genetic testing have expanded rapidly in the last decade with the advent of multiplex (e.g., tandem mass spectrometry) and/or DNA technologies. However, screening panels include a large number of disorders, which may not meet all of the traditional screening criteria, established in late 1960s, and used for years to justify screening programs. After a period of expansion driven by technological advances, many reports have reconsidered the justification of expanded programs. Many factors have contributed to test-panel discrepancies between countries. The test-panel review methodology, the way health benefits are weighed against harms, and the socioeconomic-political environment all play a role. Expansion of screening also requires reconsideration of the infrastructure (ideally, in the context of national plans for rare diseases) to support testing, counselling, education, treatment, and follow-up. Consequently, economic aspects cannot be ignored and can be a limitation for expansion. New ethical questions have emerged: risks of discrimination or stigmatization, respect of the autonomy of persons to make decisions, parental anxiety resulting from a false positive test (especially when reporting to parents screening results for untreatable conditions identified as by-products of screening), etc. For disorders where there is not yet confirmation of benefit, it may be prudent to recommend pilot screening and to have a mechanism that can be used to adapt or even to stop a program.

Portfolio optimization by using linear programing models based on genetic algorithm

Science.gov (United States)

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.

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

Directory of Open Access Journals (Sweden)

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

Bavarian mammography screening program; Bayerisches Mammographiescreening (BMS)

Energy Technology Data Exchange (ETDEWEB)

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.)

Benefit-risk analysis for mass screening of stomach cancer in Japan, 2

International Nuclear Information System (INIS)

Iinuma, Takeshi; Tateno, Yukio; Umegaki, Yoichiro; Hashizume, Tadashi; Kitabatake, Takashi.

1978-01-01

Mass screening of stomach cancer is one of the largest screening systems in Japan. In the previous paper, we have described the benefit-risk analysis in terms of life-saving due to early detection of stomach cancer and loss of life due to late induction of cancer by radiation. In this paper, we report the genetic effect of x-ray diagnosis used in the mass screening and cost-effectiveness for the screening program. The former is calculated by the product of genetically significant dose and rate of induction for genetic effects. Since the genetically significant dose in woman is about 10 times larger than that in man, the genetic risk is greater in woman accordingly. It is also found that the genetic risk over 40 years old is only 3% of the risk in the whole population and that it is almost neglected if the screening is performed only over age of 40. Cost of the screening is estimated to be yen 3,000/person which includes that of photofluorography and a part of other detailed examinations. Since total population screened is about 4 million in 1975, the total amount of cost is 1.2 x 10 10 yen/year. Cost per person-year is mainly dependent upon the age of the person: for one person-year in man or woman of 15 - 19 years old, the cost is about 20 million yen, but it is about 150,000 yen for man of 70 - 74 years old. These information is useful in the decision on the mass screening policy for stomach cancer in Japan. (auth.)

Routine human-competitive machine intelligence by means of genetic programming

Science.gov (United States)

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.

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

International Nuclear Information System (INIS)

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)

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

Directory of Open Access Journals (Sweden)

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

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

Developing close combat behaviors for simulated soldiers using genetic programming techniques.

Energy Technology Data Exchange (ETDEWEB)

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.

Genetic programming applied to RFI mitigation in radio astronomy

Science.gov (United States)

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.

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

Science.gov (United States)

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.

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

DEFF Research Database (Denmark)

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...

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

Science.gov (United States)

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

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

Science.gov (United States)

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…

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

Science.gov (United States)

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

Applications of genetic programming in cancer research.

Science.gov (United States)

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.

Abdominal aortic aneurysm screening program in Poland.

Science.gov (United States)

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

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

Directory of Open Access Journals (Sweden)

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.

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

Genetic programs can be compressed and autonomously decompressed in live cells

Science.gov (United States)

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.

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.

Science.gov (United States)

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.

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

Science.gov (United States)

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.

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.

Science.gov (United States)

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.

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

Directory of Open Access Journals (Sweden)

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

[Breast cancer incidence related with a population-based screening program].

Science.gov (United States)

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.

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

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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

CDC’s Newborn Screening Program - Role of Laboratories

Centers for Disease Control (CDC) Podcasts

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.

Selecting the Best Forecasting-Implied Volatility Model Using Genetic Programming

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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.

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

DEFF Research Database (Denmark)

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...

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

Science.gov (United States)

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.

National screening program vs. standardized neurodevelopmental follow-up

NARCIS (Netherlands)

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

The "GeneTrustee": a universal identification system that ensures privacy and confidentiality for human genetic databases.

Science.gov (United States)

Burnett, Leslie; Barlow-Stewart, Kris; Proos, Anné L; Aizenberg, Harry

2003-05-01

This article describes a generic model for access to samples and information in human genetic databases. The model utilises a "GeneTrustee", a third-party intermediary independent of the subjects and of the investigators or database custodians. The GeneTrustee model has been implemented successfully in various community genetics screening programs and has facilitated research access to genetic databases while protecting the privacy and confidentiality of research subjects. The GeneTrustee model could also be applied to various types of non-conventional genetic databases, including neonatal screening Guthrie card collections, and to forensic DNA samples.

Molecular and genetic basis for partial resistance of western white pine against Cronartium ribicola.

Science.gov (United States)

Jun-Jun Liu; Arezoo Zamany; Richard. Sniezko

2012-01-01

Western white pine (Pinus monticola Douglas ex D. Don) is an important forest species in North America. Forest genetics programs have been breeding for durable genetic resistance against white pine blister rust (WPBR) caused by Cronartium ribicola in the past few decades. As various genetic resistance resources are screened and...

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

Science.gov (United States)

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.

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

Energy Technology Data Exchange (ETDEWEB)

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.

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

Science.gov (United States)

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…

Psychological impact of von Hippel-Lindau genetic screening in patients with a previous history of hemangioblastoma of the central nervous system.

Science.gov (United States)

Rochette, Claire; Baumstarck, Karine; Canoni-Zattara, Hélène; Abdullah, Ahmad Esmaeel; Figarella-Branger, Dominique; Pertuit, Morgane; Barlier, Anne; Castinetti, Frédéric; Pacak, Karel; Metellus, Philippe; Taïeb, David

2018-05-15

Von Hippel-Lindau (VHL) syndrome is a hereditary cancer syndrome characterized by a high risk of developing benign and malignant tumors, including central nervous system hemangioblastomas (CNS HBs). For an early diagnosis of VHL, before the occurrence of cancers (especially renal cell carcinoma), it is of huge importance to initiate VHL genetic testing in at-risk patients. The aim of the study was to assess the psychological impact of VHL genetic testing in patients previously diagnosed with a CNS HB. From 1999 until 2015, 55 patients underwent surgery for CNS HBs. Eleven patients were already screened for VHL mutations and 3 patients deceased before the start of the study. From the remaining 42 patients, 24 were accepted to be enrolled in the study. Assessment of psychological impact of VHL genetic testing was performed by measuring anxiety levels, mood disorders, quality of life, and psychological consequences of genetic screening. Twenty-one of the enrolled 24 patients underwent VHL genetic testing and 12 patients came back for the communication of positive genetic results. The baseline psychological status did not differ between these 2 groups. Patients who attended the visit of communication of genetic results had similar anxiety levels compared to those who had not. Furthermore, they also experienced an improvement in the level of anxiety and two QoL dimension scores compared to their baseline status. In summary, there is no evidence of a negative psychosocial impact of VHL genetic testing in patients with a previous history of CNS HB. We, therefore, recommend the recall of patients who have not been previously screened.

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

Science.gov (United States)

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

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

Directory of Open Access Journals (Sweden)

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

Algorithmic Trading with Developmental and Linear Genetic Programming

Science.gov (United States)

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.

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

Directory of Open Access Journals (Sweden)

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.

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

International Nuclear Information System (INIS)

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.)

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

Science.gov (United States)

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

2004-11-01

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

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

Directory of Open Access Journals (Sweden)

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.

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

Science.gov (United States)

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.

Developing the Biomolecular Screening Facility at the EPFL into the Chemical Biology Screening Platform for Switzerland.

Science.gov (United States)

Turcatti, Gerardo

2014-05-01

The Biomolecular Screening Facility (BSF) is a multidisciplinary laboratory created in 2006 at the Ecole Polytechnique Federale de Lausanne (EPFL) to perform medium and high throughput screening in life sciences-related projects. The BSF was conceived and developed to meet the needs of a wide range of researchers, without privileging a particular biological discipline or therapeutic area. The facility has the necessary infrastructure, multidisciplinary expertise and flexibility to perform large screening programs using small interfering RNAs (siRNAs) and chemical collections in the areas of chemical biology, systems biology and drug discovery. In the framework of the National Centres of Competence in Research (NCCR) Chemical Biology, the BSF is hosting 'ACCESS', the Academic Chemical Screening Platform of Switzerland that provides the scientific community with chemical diversity, screening facilities and know-how in chemical genetics. In addition, the BSF started its own applied research axes that are driven by innovation in thematic areas related to preclinical drug discovery and discovery of bioactive probes.

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

Science.gov (United States)

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.

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

Directory of Open Access Journals (Sweden)

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.

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

International Nuclear Information System (INIS)

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.

The sheep blowfly genetic control program in Australia

International Nuclear Information System (INIS)

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

Primer on molecular genetics. DOE Human Genome Program

Energy Technology Data Exchange (ETDEWEB)

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.

Influencing Cancer Screening Participation Rates—Providing a Combined Cancer Screening Program (a ‘One Stop’ Shop Could Be a Potential Answer

Directory of Open Access Journals (Sweden)

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

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

Science.gov (United States)

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.

Guidelines on the use of molecular genetics in reintroduction programs

Science.gov (United States)

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-...

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

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

Directory of Open Access Journals (Sweden)

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.

Skin Cancer Screening

Science.gov (United States)

... Genetics of Skin Cancer Skin Cancer Screening Research Skin Cancer Screening (PDQ®)–Patient Version What is screening? ... These are called diagnostic tests . General Information About Skin Cancer Key Points Skin cancer is a disease ...

Cost-effectiveness and budget impact analysis of a population-based screening program for colorectal cancer.

Science.gov (United States)

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.

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

Non-linear nuclear engineering models as genetic programming application

International Nuclear Information System (INIS)

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

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

OpenAIRE

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...

Development and validation of duplex, triplex, and pentaplex real-time PCR screening assays for the detection of genetically modified organisms in food and feed.

Science.gov (United States)

Huber, Ingrid; Block, Annette; Sebah, Daniela; Debode, Frédéric; Morisset, Dany; Grohmann, Lutz; Berben, Gilbert; Stebih, Dejan; Milavec, Mojca; Zel, Jana; Busch, Ulrich

2013-10-30

Worldwide, qualitative methods based on PCR are most commonly used as screening tools for genetically modified material in food and feed. However, the increasing number and diversity of genetically modified organisms (GMO) require effective methods for simultaneously detecting several genetic elements marking the presence of transgenic events. Herein we describe the development and validation of a pentaplex, as well as complementary triplex and duplex real-time PCR assays, for the detection of the most common screening elements found in commercialized GMOs: P-35S, T-nos, ctp2-cp4-epsps, bar, and pat. The use of these screening assays allows the coverage of many GMO events globally approved for commercialization. Each multiplex real-time PCR assay shows high specificity and sensitivity with an absolute limit of detection below 20 copies for the targeted sequences. We demonstrate by intra- and interlaboratory tests that the assays are robust as well as cost- and time-effective for GMO screening if applied in routine GMO analysis.

Considering genetic characteristics in German Holstein breeding programs.

Science.gov (United States)

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

Testing of chemicals for genetic activity with Saccharomyces cerevisiae: a report of the U. S. Environmental Protection Agency Gene-Tox Program

Energy Technology Data Exchange (ETDEWEB)

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.

Colorectal Cancer Screening

Science.gov (United States)

... Genetics of Colorectal Cancer Colorectal Cancer Screening Research Colorectal Cancer Screening (PDQ®)–Patient Version What is screening? Go ... These are called diagnostic tests . General Information About Colorectal Cancer Key Points Colorectal cancer is a disease in ...

Barriers to cancer screening among Orthodox Jewish women.

Science.gov (United States)

Tkatch, Rifky; Hudson, Janella; Katz, Anne; Berry-Bobovski, Lisa; Vichich, Jennifer; Eggly, Susan; Penner, Louis A; Albrecht, Terrance L

2014-12-01

The increased risk of genetic cancer mutations for Ashkenazi Jews is well known. However, little is known about the cancer-related health behaviors of a subset of Ashkenazi Jews, Orthodox Jews, who are a very religious and insular group. This study partnered with Rabbinical leadership and community members in an Orthodox Jewish community to investigate barriers to cancer screening in this community. Orthodox Jewish women were recruited to participate in focus groups designed to elicit their perspectives on barriers to cancer screening. A total of five focus groups were conducted, consisting of 3-5 members per group, stratified by age and family history of cancer. Focus groups were audio recorded and transcribed. Transcripts were coded using conventional content analysis. The resulting themes identified as barriers to cancer screening were: preservation of hidden miracles, fate, cost, competing priorities, lack of culturally relevant programming, lack of information, and fear. These results provide a unique perspective on barriers to cancer screening in a high risk but understudied population. Findings from this study may serve to inform culturally appropriate cancer education programs to overcome barriers to screening in this and other similar communities.

Validation of Version 3.0 of the Breast Cancer Genetics Referral Screening Tool (B-RST™).

Science.gov (United States)

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.

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

Directory of Open Access Journals (Sweden)

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

Hazard screening application guide. Safety Analysis Report Update Program

Energy Technology Data Exchange (ETDEWEB)

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.

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

Science.gov (United States)

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.

Detection of prostate cancer by an FDG-PET cancer screening program: results from a Japanese nationwide survey

International Nuclear Information System (INIS)

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

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

International Nuclear Information System (INIS)

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

Proof of concept: preimplantation genetic screening without embryo biopsy through analysis of cell-free DNA in spent embryo culture media.

Science.gov (United States)

Shamonki, Mousa I; Jin, Helen; Haimowitz, Zachary; Liu, Lian

2016-11-01

To assess whether preimplantation genetic screening (PGS) is possible by testing for free embryonic DNA in spent IVF media from embryos undergoing trophectoderm biopsy. Prospective cohort analysis. Academic fertility center. Seven patients undergoing IVF and 57 embryos undergoing trophectoderm biopsy for PGS. On day 3 of development, each embryo was placed in a separate media droplet. All biopsied embryos received a PGS result by array comparative genomic hybridization. Preimplantation genetic screening was performed on amplified DNA extracted from media and results were compared with PGS results for the corresponding biopsy. [1] Presence of DNA in spent IVF culture media. [2] Correlation between genetic screening result from spent media and corresponding biopsy. Fifty-five samples had detectable DNA ranging from 2-642 ng/μL after a 2-hour amplification. Six samples with the highest DNA levels underwent PGS, rendering one result with a derivative log ratio SD (DLRSD) of media and a result that is consistent with trophectoderm biopsy. Improvements in DNA collection, amplification, and testing may allow for PGS without biopsy in the future. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

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

Directory of Open Access Journals (Sweden)

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.

Simulation of reduced breast cancer mortality in breast cancer screening programs

International Nuclear Information System (INIS)

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.

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

Directory of Open Access Journals (Sweden)

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.

Screen-film mammography versus full-field digital mammography in a population-based screening program: The Sogn and Fjordane study

International Nuclear Information System (INIS)

Juel, Inger-Marie; Johannessen, Gunnar; Skaane, Per; Roth Hoff, Solveig; Hofvind, Solveig

2010-01-01

Background: Studies comparing analog and digital mammography in breast cancer screening have shown conflicting results. Little is known about the use of digital photon-counting detectors. Purpose: To retrospectively compare performance indicators in screen-film (SFM) and full-field digital mammography (FFDM) using a photon-counting detector in a population-based screening program. Material and Methods: The Norwegian Social Science Data Services approved the study, which was part of the Norwegian Breast Cancer Screening Program. The program invites women aged 50-69 years to two-view mammography biannually. The study period was January 2005 to June 2006 for SFM and August 2006 to December 2007 for FFDM. Independent double reading was performed using a five-point rating scale for probability of cancer. Recalls due to abnormal mammography were retrospectively reviewed by an expert panel. Performance indicators for the two techniques were compared. Attendance rate was 83.6% (7442/8901) for SFM and 82.0% (6932/8451) for FFDM. Results: The recall rate due to abnormal mammography, cancer detection rate and positive predictive value did not differ significantly between SFM and FFDM: recall 2.3% (174/7442) versus 2.4% (168/6932), cancer detection 0.39% (29/7442) versus 0.48% (33/6932), positive predictive value 16.7% (29/174) versus 19.6% (33/168), respectively (P>0.05 for all). The recall rate due to technically inadequate mammograms was 0.3% (19/7442) for SFM and 0.01% (1/6932) for FFDM. In the retrospective review, a significantly higher proportion of calcifications and asymmetric density were categorized as normal or definitively benign in FFDM compared with SFM. The average glandular dose was 2.17 mGy for SFM and 1.25 mGy for FFDM. Conclusion: Performance indicators show that FFDM using photon-counting detector is suitable for breast cancer screening. The lower radiation dose and lower recalls due to technically inadequate mammograms are of importance in mammography

[Generalized neonatal screening based on laboratory tests].

Science.gov (United States)

Ardaillou, Raymond; Le Gall, Jean-Yves

2006-11-01

diseases in a single run. In addition to issues of cost and organization, any increase in the number of screened diseases will raise ethical problems, such as how to inform parents of an incurable disease, a late-onset disease, or an entirely asymptomatic disorder. It is unanimously agreed that only Mendelian diseases should be screened for (excluding genetic polymorphisms). Analysis of the present situation suggests the following changes:--guidelines for choosing new diseases for neonatal screening should be updated;--all new screening programs should be tested locally before nationwide implementation;--an evaluation committee of paediatricians and epidemiologists should be created, and the children's long-term outcome should be studied;--the conditions in which heterozygous carriers are informed after familial investigations need to be precisely defined;--blood samples should be banked for epidemiological studies.

Polyglot programming in applications used for genetic data analysis.

Science.gov (United States)

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.

Energy Consumption Forecasting Using Semantic-Based Genetic Programming with Local Search Optimizer

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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.

Expert and Advocacy Group Consensus Findings on the Horizon of Public Health Genetic Testing

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Stephen M. Modell

2016-01-01

Full Text Available Description: Among the two leading causes of death in the United States, each responsible for one in every four deaths, heart disease costs Americans $300 billion, while cancer costs Americans $216 billion per year. They also rank among the top three causes of death in Europe and Asia. In 2012 the University of Michigan Center for Public Health and Community Genomics and Genetic Alliance, with the support of the Centers for Disease Control and Prevention Office of Public Health Genomics, hosted a conference in Atlanta, Georgia to consider related action strategies based on public health genomics. The aim of the conference was consensus building on recommendations to implement genetic screening for three major heritable contributors to these mortality and cost figures: hereditary breast and ovarian cancer (HBOC, familial hypercholesterolemia (FH, and Lynch syndrome (LS. Genetic applications for these three conditions are labeled with a “Tier 1” designation by the U.S. Centers for Disease Control and Prevention because they have been fully validated and clinical practice guidelines based on systematic review support them. Methodology: The conference followed a deliberative sequence starting with nationally recognized clinical and public health presenters for each condition, followed by a Patient and Community Perspectives Panel, working group sessions for each of the conditions, and a final plenary session. The 74 conference participants represented disease research and advocacy, public health, medicine and nursing, genetics, governmental health agencies, and industry. Participants drew on a public health framework interconnecting policy, clinical intervention, surveillance, and educational functions for their deliberations. Results: Participants emphasized the importance of collaboration between clinical, public health, and advocacy groups in implementing Tier 1 genetic screening. Advocacy groups could help with individual and institutional

Genetic variability of broodstocks of restocking programs in Brazil

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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.

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

Directory of Open Access Journals (Sweden)

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.

Effectiveness of an employee skin cancer screening program for secondary prevention.

Science.gov (United States)

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.

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

Science.gov (United States)

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.

Feature extraction from multiple data sources using genetic programming.

Energy Technology Data Exchange (ETDEWEB)

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.

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

Science.gov (United States)

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

[Molecular genetic diagnostics and screening of hereditary hemochromatosis].

Science.gov (United States)

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.

Genetic similarity of polyploids - A new version of the computer program POPDIST (ver. 1.2.0) considers intraspecific genetic differentiation

DEFF Research Database (Denmark)

Tomiuk, Jürgen; Guldbrandtsen, Bernt; Loeschcke, Volker

2009-01-01

For evolutionary studies of polyploid species estimates of the genetic identity between species with different degrees of ploidy are particularly required because gene counting in samples of polyploid individuals often cannot be done, e.g., in triploids the phenotype AB can be genotypically either...... ABB or AAB. We recently suggested a genetic distance measure that is based on phenotype counting and made available the computer program POPDIST. The program provides maximum-likelihood estimates of the genetic identities and distances between polyploid populations, but this approach...

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

OpenAIRE

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...

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

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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.

Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience.

Science.gov (United States)

Lew, Raelia M; Burnett, Leslie; Proos, Anné L; Barlow-Stewart, Kristine; Delatycki, Martin B; Bankier, Agnes; Aizenberg, Harry; Field, Michael J; Berman, Yemima; Fleischer, Ronald; Fietz, Michael

2015-03-01

Internationally, Tay-Sachs disease (TSD) preconception screening of Ashkenazi Jewish (AJ) individuals and couples has led to effective primary prevention of TSD. In Australia, adolescent preconception genetic screening programs operate mainly in Jewish community high schools. These existing programs offer an effective means of primary prevention of TSD, are cost effective and safe. However, in the broader Australian community TSD screening is not systematically performed and cases still occur in unscreened AJ individuals. In order to improve the effectiveness of Australian screening, there is a need for definitive guidelines for healthcare professionals to facilitate extension of the proven benefits of preconception TSD screening to all AJ individuals at risk. We performed a systematic review of the relevant literature relating to AJ pre-conception and antenatal screening for TSD. The evidence was assessed using an established National Health and Medical Research Council evidence grading system. Evaluations of efficacy of TSD screening programs design and execution, cost-benefit and cost-utility health economic evaluation, and population outcomes were undertaken. The results have been used to propose a model for universal AJ TSD preconception and antenatal screening for the primary care setting. © 2014 The Authors. Journal of Paediatrics and Child Health © 2014 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

The Peru Cervical Cancer Screening Study (PERCAPS): the design and implementation of a mother/daughter screen, treat, and vaccinate program in the Peruvian jungle.

Science.gov (United States)

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.

Using genetic programming to find Lyapunov functions

NARCIS (Netherlands)

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

A Hybrid Genetic Programming Algorithm for Automated Design of Dispatching Rules.

Science.gov (United States)

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.

Academic training: From Evolution Theory to Parallel and Distributed Genetic Programming

CERN Multimedia

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 ...

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

Public health genetic counselors: activities, skills, and sources of learning.

Science.gov (United States)

McWalter, Kirsty M; Sdano, Mallory R; Dave, Gaurav; Powell, Karen P; Callanan, Nancy

2015-06-01

Specialization within genetic counseling is apparent, with 29 primary specialties listed in the National Society of Genetic Counselors' 2012 Professional Status Survey (PSS). PSS results show a steady proportion of genetic counselors primarily involved in public health, yet do not identify all those performing public health activities. Little is known about the skills needed to perform activities outside of "traditional" genetic counselor roles and the expertise needed to execute those skills. This study aimed to identify genetic counselors engaging in public health activities, the skills used, and the most influential sources of learning for those skills. Participants (N = 155) reported involvement in several public health categories: (a) Education of Public and/or Health Care Providers (n = 80, 52 %), (b) Population-Based Screening Programs (n = 70, 45 %), (c) Lobbying/Public Policy (n = 62, 40 %), (d) Public Health Related Research (n = 47, 30 %), and (e) State Chronic Disease Programs (n = 12, 8 %). Regardless of category, "on the job" was the most common primary source of learning. Genetic counseling training program was the most common secondary source of learning. Results indicate that the number of genetic counselors performing public health activities is likely higher than PSS reports, and that those who may not consider themselves "public health genetic counselors" do participate in public health activities. Genetic counselors learn a diverse skill set in their training programs; some skills are directly applicable to public health genetics, while other public health skills require additional training and/or knowledge.

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

NARCIS (Netherlands)

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

A Genetic-Algorithms-Based Approach for Programming Linear and Quadratic Optimization Problems with Uncertainty

Directory of Open Access Journals (Sweden)

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.

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

Science.gov (United States)

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

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

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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.

Cost-effectiveness analysis of preimplantation genetic screening and in vitro fertilization versus expectant management in patients with unexplained recurrent pregnancy loss.

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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.

Weqaya: A Population-Wide Cardiovascular Screening Program in Abu Dhabi, United Arab Emirates

Science.gov (United States)

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

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

NARCIS (Netherlands)

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

Factors influencing participation in colorectal cancer screening programs in Spain.

Science.gov (United States)

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.

Association Between Socioeconomic Status and Participation in Colonoscopy Screening Program in First Degree Relatives of Colorectal Cancer Patients.

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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.

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

Screening synteny blocks in pairwise genome comparisons through integer programming.

Science.gov (United States)

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

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

International Nuclear Information System (INIS)

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)

Applying theological developments to bioethical issues such as genetic screening.

Science.gov (United States)

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.

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

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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

A Call to Include Severe Combined Immunodeficiency in Newborn Screening Program

Directory of Open Access Journals (Sweden)

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.

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

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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.

Establishing and Sustaining a Prospective Screening Program for Breast Cancer-Related Lymphedema at the Massachusetts General Hospital: Lessons Learned

Directory of Open Access Journals (Sweden)

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.

Genetic Programming for Sea Level Predictions in an Island Environment

Directory of Open Access Journals (Sweden)

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.

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

Science.gov (United States)

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...

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

Science.gov (United States)

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.

Genetic programming theory and practice X

CERN Document Server

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

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

Directory of Open Access Journals (Sweden)

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

Digital Breast Tomosynthesis with Synthesized Two-Dimensional Images versus Full-Field Digital Mammography for Population Screening: Outcomes from the Verona Screening Program.

Science.gov (United States)

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

Implementing a Fee-for-Service Cervical Cancer Screening and Treatment Program in Cameroon: Challenges and Opportunities.

Science.gov (United States)

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

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

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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

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

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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

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

African Journals Online (AJOL)

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 ...

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

Science.gov (United States)

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.

Models of Community-Based Hepatitis B Surface Antigen Screening Programs in the U.S. and Their Estimated Outcomes and Costs

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Rein, David B.; Lesesne, Sarah B.; Smith, Bryce D.; Weinbaum, Cindy M.

2011-01-01

Objectives Information on the process and method of service delivery is sparse for hepatitis B surface antigen (HBsAg) testing, and no systematic study has evaluated the relative effectiveness or cost-effectiveness of different HBsAg screening models. To address this need, we compared five specific community-based screening programs. Methods We funded five HBsAg screening programs to collect information on their design, costs, and outcomes of participants during a six-month observation period. We categorized programs into four types of models. For each model, we calculated the number screened, the number screened as per Centers for Disease Control and Prevention (CDC) recommendations, and the cost per screening. Results The models varied by cost per person screened and total number of people screened, but they did not differ meaningfully in the proportion of people screened following CDC recommendations, the proportion of those screened who tested positive, or the proportion of those who newly tested positive. Conclusions Integrating screening into outpatient service settings is the most cost-effective method but may not reach all people needing to be screened. Future research should examine cost-effective methods that expand the reach of screening into communities in outpatient settings. PMID:21800750

Mapping public policy on genetics.

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Weisfeld, N E

2002-06-01

The mapping of the human genome and related advances in genetics are stimulating the development of public policies on genetics. Certain notions that currently prevail in public policy development overall--including the importance of protecting privacy of information, an interest in cost-effectiveness, and the power of the anecdote--will help determine the future of public policy on genetics. Information areas affected include discrimination by insurers and employers, confidentiality, genetic databanks, genetic testing in law enforcement, and court-ordered genetic testing in civil cases. Service issues address clinical standards, insurance benefits, allocation of resources, and screening of populations at risk. Supply issues encompass funding of research and clinical positions. Likely government actions include, among others: (1) Requiring individual consent for the disclosure of personal information, except when such consent would impose inordinate costs; (2) licensing genetic databases; (3) allowing courts to use personal information in cases where a refusal to use such information would offend the public; (4) mandating health insurers to pay for cost-effective genetic services; (5) funding pharmaceutical research to develop tailored products to prevent or treat diseases; and (6) funding training programs.

A screening program to test and treat for Helicobacter pylori infection: Cost-utility analysis by age, sex and ethnicity

Directory of Open Access Journals (Sweden)

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.

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

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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.

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

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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.

[The significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis].

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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.

The potential use of genetics to increase the effectiveness of treatment programs for criminal offenders.

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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.

Screening of genetic parameters for soluble protein expression in Escherichia coli

DEFF Research Database (Denmark)

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...

Results of National Colorectal Cancer Screening Program in Croatia (2007-2011)

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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

Results of National Colorectal Cancer Screening Program in Croatia (2007-2011).

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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

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

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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.

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

International Nuclear Information System (INIS)

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

Risks of Colorectal Cancer Screening

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... Genetics of Colorectal Cancer Colorectal Cancer Screening Research Colorectal Cancer Screening (PDQ®)–Patient Version What is screening? Go ... These are called diagnostic tests . General Information About Colorectal Cancer Key Points Colorectal cancer is a disease in ...

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

Science.gov (United States)

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.

Forecasting Shaharchay River Flow in Lake Urmia Basin using Genetic Programming and M5 Model Tree

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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

Haploid genetic screens identify an essential role for PLP2 in the downregulation of novel plasma membrane targets by viral E3 ubiquitin ligases.

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Richard T Timms

Full Text Available The Kaposi's sarcoma-associated herpesvirus gene products K3 and K5 are viral ubiquitin E3 ligases which downregulate MHC-I and additional cell surface immunoreceptors. To identify novel cellular genes required for K5 function we performed a forward genetic screen in near-haploid human KBM7 cells. The screen identified proteolipid protein 2 (PLP2, a MARVEL domain protein of unknown function, as essential for K5 activity. Genetic loss of PLP2 traps the viral ligase in the endoplasmic reticulum, where it is unable to ubiquitinate and degrade its substrates. Subsequent analysis of the plasma membrane proteome of K5-expressing KBM7 cells in the presence and absence of PLP2 revealed a wide range of novel K5 targets, all of which required PLP2 for their K5-mediated downregulation. This work ascribes a critical function to PLP2 for viral ligase activity and underlines the power of non-lethal haploid genetic screens in human cells to identify the genes involved in pathogen manipulation of the host immune system.

Comprehensive evaluation of cervical cancer screening programs: the case of Colombia

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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

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

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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

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

DEFF Research Database (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....

Current status of the congenital hypothyroidism neonatal screening program in Adana Province, Turkey.

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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).

Economic evaluation of screening programs for hepatitis C virus infection: evidence from literature

Directory of Open Access Journals (Sweden)

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

Multi-gene genetic programming based predictive models for municipal solid waste gasification in a fluidized bed gasifier.

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Pandey, Daya Shankar; Pan, Indranil; Das, Saptarshi; Leahy, James J; Kwapinski, Witold

2015-03-01

A multi-gene genetic programming technique is proposed as a new method to predict syngas yield production and the lower heating value for municipal solid waste gasification in a fluidized bed gasifier. The study shows that the predicted outputs of the municipal solid waste gasification process are in good agreement with the experimental dataset and also generalise well to validation (untrained) data. Published experimental datasets are used for model training and validation purposes. The results show the effectiveness of the genetic programming technique for solving complex nonlinear regression problems. The multi-gene genetic programming are also compared with a single-gene genetic programming model to show the relative merits and demerits of the technique. This study demonstrates that the genetic programming based data-driven modelling strategy can be a good candidate for developing models for other types of fuels as well. Copyright © 2014 Elsevier Ltd. All rights reserved.

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

Science.gov (United States)

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.

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

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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.

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

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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

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

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

Directory of Open Access Journals (Sweden)

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.

From Cancer Screening to Treatment: Service Delivery and Referral in the National Breast and Cervical Cancer Early Detection Program

Science.gov (United States)

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

Retinal photography screening programs to prevent vision loss from diabetic retinopathy in rural and urban Australia: a review.

Science.gov (United States)

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.

Artificial intelligence programming with LabVIEW: genetic algorithms for instrumentation control and optimization.

Science.gov (United States)

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.

The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry.

Science.gov (United States)

la Marca, Giancarlo; Giocaliere, Elisa; Malvagia, Sabrina; Funghini, Silvia; Ombrone, Daniela; Della Bona, Maria Luisa; Canessa, Clementina; Lippi, Francesca; Romano, Francesca; Guerrini, Renzo; Resti, Massimo; Azzari, Chiara

2014-01-01

Severe combined immunodeficiency due to adenosine-deaminase defect (ADA-SCID) is usually deadly in childhood because of severe recurrent infections. When clinical diagnosis is done, permanent damages due to infections or metabolite accumulation are often present. Gene therapy, bone marrow transplantation or enzyme replacement therapy may be effective if started early. The aim of this study was to set-up a robust method suitable for screening with a minimized preparation process and with inexpensive running costs, for diagnosing ADA-SCID by tandem mass spectrometry. ADA-SCID satisfies all the criteria for inclusion in a newborn screening program. We describe a protocol revised to incorporate adenosine and 2-deoxyadenosine testing into an expanded newborn screening program. We assessed the effectiveness of this approach testing dried blood spots from 4 genetically confirmed early-onset and 5 delayed-onset ADA-SCID patients. Reference values were established on 50,000 healthy newborns (deoxyadenosine ADA) gene. The results show that the method having great simplicity, low cost and low process preparations can be fully applicable to a mass screening program. Copyright © 2013 Elsevier B.V. All rights reserved.

A Systematic Review on the Existing Screening Pathways for Lynch Syndrome Identification

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Alessia Tognetto

2017-09-01

Full Text Available BackgroundLynch syndrome (LS is the most common hereditary colon cancer syndrome, accounting for 3–5% of colorectal cancer (CRC cases, and it is associated with the development of other cancers. Early detection of individuals with LS is relevant, since they can take advantage of life-saving intensive care surveillance. The debate regarding the best screening policy, however, is far from being concluded. This prompted us to conduct a systematic review of the existing screening pathways for LS.MethodsWe performed a systematic search of MEDLINE, ISI Web of Science, and SCOPUS online databases for the existing screening pathways for LS. The eligibility criteria for inclusion in this review required that the studies evaluated a structured and permanent screening pathway for the identification of LS carriers. The effectiveness of the pathways was analyzed in terms of LS detection rate.ResultsWe identified five eligible studies. All the LS screening pathways started from CRC cases, of which three followed a universal screening approach. Concerning the laboratory procedures, the pathways used immunohistochemistry and/or microsatellite instability testing. If the responses of the tests indicated a risk for LS, the genetic counseling, performed by a geneticist or a genetic counselor, was mandatory to undergo DNA genetic testing. The overall LS detection rate ranged from 0 to 5.2%.ConclusionThis systematic review reported different existing pathways for the identification of LS patients. Although current clinical guidelines suggest to test all the CRC cases to identify LS cases, the actual implementation of pathways for LS identification has not been realized. Large-scale screening programs for LS have the potential to reduce morbidity and mortality for CRC, but coordinated efforts in educating all key stakeholders and addressing public needs are still required.

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

DEFF Research Database (Denmark)

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...

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

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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.

Genetic algorithms and genetic programming for multiscale modeling: Applications in materials science and chemistry and advances in scalability

Science.gov (United States)

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

Factors associated with non-attendance, opportunistic attendance and reminded attendance to cervical screening in an organized screening program: a cross-sectional study of 12,058 Norwegian women

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Eriksen Tormod

2011-04-01

Full Text Available Abstract Background Cervical cancer incidence and mortality may be reduced by organized screening. Participant compliance with the attendance recommendations of the screening program is necessary to achieve this. Knowledge about the predictors of compliance is needed in order to enhance screening attendance. Methods The Norwegian Co-ordinated Cervical Cancer Screening Program (NCCSP registers all cervix cytology diagnoses in Norway and individually reminds women who have no registered smear for the past three years to make an appointment for screening. In the present study, a questionnaire on lifestyle and health was administered to a random sample of Norwegian women. The response rate was 68%. To address the predictors of screening attendance for the 12,058 women aged 25-45 who were eligible for this study, individual questionnaire data was linked to the cytology registry of the NCCSP. We distinguished between non-attendees, opportunistic attendees and reminded attendees to screening for a period of four years. Predictors of non-attendance versus attendance and reminded versus opportunistic attendance were established by multivariate logistic regression. Results Women who attended screening were more likely than non-attendees to report that they were aware of the recommended screening interval, a history of sexually transmitted infections and a history of hormonal contraceptive and condom use. Attendance was also positively associated with being married/cohabiting, being a non-smoker and giving birth. Women who attended after being reminded were more likely than opportunistic attendees to be aware of cervical cancer and the recommended screening interval, but less likely to report a history of sexually transmitted infections and hormonal contraceptive use. Moreover, the likelihood of reminded attendance increased with age. Educational level did not significantly affect the women's attendance status in the fully adjusted models. Conclusions The

[Mass neonatal screening using biological testing].

Science.gov (United States)

Ardaillou, R; Le Gall, J-Y

2007-04-01

Implementation of a generalized screening program for neonatal diseases obeys precise guidelines. The disease must be severe, recognizable at an early stage, accessible to an effective treatment, detected with a non expansive and widely applicable test and it must represent an important health problem. In case of positive results, treatment or prevention shall be offered immediately and any screening program has to be regularly evaluated. There is in France since 1978 a national screening program that depends on a private association ("Association française pour le dépistage et la prévention des handicaps de l'enfant") and is supervised by the "Caisse nationale d'assurance maladie" and the "Direction Générale de la Sante". Presently, five diseases are included in the screening program: phenylketonuria, hypothyroidism, congenital adrenal hyperplasia, cystic fibrosis and sickle cell disease, the latter only in at risk newborns. Toxoplasmosis represents a particular problem because screening takes place only in children of mothers that have not been controlled during their pregnancy or in case of seroconversion. Neonatal screening of phenylketonuria and hypothyrodism is unanimously recommended. That of congenital adrenal hyperplasia is approved in most countries. The cases of sickle cell disease and cystic fibrosis are more complex because: 1) all the children that carry the mutations are not affected with a severe disease; 2) there is no curative treatment; 3) parents given information are made anxious, sometimes wrongly if the disease is mild or asymptomatic. The supporters of the screening insist on the interest of an early diagnosis which makes longer the life time of these children, the possibility for the parents to utilize prenatal screening in case of a future pregnancy, and the information given to the heterozygous carriers following a familial screening. The question is raised of the extension of neonatal screening to other diseases. This is now

Results of a pediatric vision screening program in western South Dakota.

Science.gov (United States)

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.

Modeling the Isentropic Head Value of Centrifugal Gas Compressor using Genetic Programming

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Safiyullah Ferozkhan

2016-01-01

Full Text Available Gas compressor performance is vital in oil and gas industry because of the equipment criticality which requires continuous operations. Plant operators often face difficulties in predicting appropriate time for maintenance and would usually rely on time based predictive maintenance intervals as recommended by original equipment manufacturer (OEM. The objective of this work is to develop the computational model to find the isentropic head value using genetic programming. The isentropic head value is calculated from the OEM performance chart. Inlet mass flow rate and speed of the compressor are taken as the input value. The obtained results from the GP computational models show good agreement with experimental and target data with the average prediction error of 1.318%. The genetic programming computational model will assist machinery engineers to quantify performance deterioration of gas compressor and the results from this study will be then utilized to estimate future maintenance requirements based on the historical data. In general, this genetic programming modelling provides a powerful solution for gas compressor operators to realize predictive maintenance approach in their operations.

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

NARCIS (Netherlands)

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

Print information to inform decisions about mammography screening participation in 16 countries with population-based programs.

Science.gov (United States)

Zapka, Jane G; Geller, Berta M; Bulliard, Jean-Luc; Fracheboud, Jacques; Sancho-Garnier, Helene; Ballard-Barbash, Rachel

2006-10-01

To profile and compare the content and presentation of written communications related to informed decision-making about mammography. Materials from 16 screening programs organized at the national or regional level were analyzed according to five major information domains suggested by the international literature. A majority of countries provided information on the program (interval, cost and quality). There was considerable variability in comprehensiveness of elements in the domains, e.g., test characteristics (false positive/negative) and pros and cons of screening. The majority noted the likelihood of recall for further tests, few commented on the risks of additional tests or finding unimportant tumors. The audit also found variation in presentation (words and pictures). Presentation of comprehensive, but balanced information on screening benefits and risks is complex and daunting. Issues such as framing effects, coupled with debate about screening efficacy are challenging to the design of effective information tools. The objective of increasing screening prevalence at the population level must be balanced with objectively presenting complete and clear information. Additional research is needed on how information (and mode of presentation) impact screening decisions. Public health officials need to articulate their objectives and review written communication according to important decision-making domains.

Effectiveness of a Web-Based Protocol for the Screening and Phenotyping of Individuals with Tourette Syndrome for Genetic Studies

Science.gov (United States)

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

Adherence to the cervical cancer screening program in women living with HIV in Denmark: comparison with the general population.

Science.gov (United States)

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.

A NEW MUTATION OPERATOR IN GENETIC PROGRAMMING

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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.

Superior performance of liquid-based versus conventional cytology in a population-based cervical cancer screening program

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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

Report on an Investigation into an Entry Level Clinical Doctorate for the Genetic Counseling Profession and a Survey of the Association of Genetic Counseling Program Directors.

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Reiser, Catherine; LeRoy, Bonnie; Grubs, Robin; Walton, Carol

2015-10-01

The master's degree is the required entry-level degree for the genetic counseling profession in the US and Canada. In 2012 the Association of Genetic Counseling Program Directors (AGCPD) passed resolutions supporting retention of the master's as the entry-level and terminal degree and opposing introduction of an entry-level clinical doctorate (CD) degree. An AGCPD workgroup surveyed directors of all 34 accredited training programs with the objective of providing the Genetic Counseling Advanced Degrees Task Force (GCADTF) with information regarding potential challenges if master's programs were required to transition to an entry-level CD. Program demographics, projected ability to transition to an entry-level CD, factors influencing ability to transition, and potential effects of transition on programs, students and the genetic counseling workforce were characterized. Two programs would definitely be able to transition, four programs would close, thirteen programs would be at risk to close and fourteen programs would probably be able to transition with varying degrees of difficulty. The most frequently cited limiting factors were economic, stress on clinical sites, and administrative approval of a new degree/program. Student enrollment under an entry-level CD model was projected to decrease by 26.2 %, negatively impacting the workforce pipeline. The results further illuminate and justify AGCPD's position to maintain the master's as the entry-level degree.

Ultrasensitive Single Fluorescence-Labeled Probe-Mediated Single Universal Primer-Multiplex-Droplet Digital Polymerase Chain Reaction for High-Throughput Genetically Modified Organism Screening.

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Niu, Chenqi; Xu, Yuancong; Zhang, Chao; Zhu, Pengyu; Huang, Kunlun; Luo, Yunbo; Xu, Wentao

2018-05-01

As genetically modified (GM) technology develops and genetically modified organisms (GMOs) become more available, GMOs face increasing regulations and pressure to adhere to strict labeling guidelines. A singleplex detection method cannot perform the high-throughput analysis necessary for optimal GMO detection. Combining the advantages of multiplex detection and droplet digital polymerase chain reaction (ddPCR), a single universal primer-multiplex-ddPCR (SUP-M-ddPCR) strategy was proposed for accurate broad-spectrum screening and quantification. The SUP increases efficiency of the primers in PCR and plays an important role in establishing a high-throughput, multiplex detection method. Emerging ddPCR technology has been used for accurate quantification of nucleic acid molecules without a standard curve. Using maize as a reference point, four heterologous sequences ( 35S, NOS, NPTII, and PAT) were selected to evaluate the feasibility and applicability of this strategy. Surprisingly, these four genes cover more than 93% of the transgenic maize lines and serve as preliminary screening sequences. All screening probes were labeled with FAM fluorescence, which allows the signals from the samples with GMO content and those without to be easily differentiated. This fiveplex screening method is a new development in GMO screening. Utilizing an optimal amplification assay, the specificity, limit of detection (LOD), and limit of quantitation (LOQ) were validated. The LOD and LOQ of this GMO screening method were 0.1% and 0.01%, respectively, with a relative standard deviation (RSD) < 25%. This method could serve as an important tool for the detection of GM maize from different processed, commercially available products. Further, this screening method could be applied to other fields that require reliable and sensitive detection of DNA targets.

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

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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.

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

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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

Compression force and radiation dose in the Norwegian Breast Cancer Screening Program

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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

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

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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.

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

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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...

Genetic counseling for schizophrenia: a review of referrals to a provincial medical genetics program from 1968–2007

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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

Multigene Genetic Programming for Estimation of Elastic Modulus of Concrete

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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.

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

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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

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

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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.

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

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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.

An adverse event in a well-established cervical cancer screening program: an observational study of 19,000 females unsubscribed to the program

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Larsen MB

2016-10-01

Full Text Available Mette Bach Larsen,1 Hans Svanholm,1,2 Berit Andersen1 1Department of Public Health Programmes, 2Department of Pathology, Randers Regional Hospital, Randers, Denmark Introduction: In Denmark, an organized approach to cervical cancer screening has had national coverage since 1998. However, in 2013, it was discovered that 19,000 females had been unsubscribed from the Danish National Cervical Cancer Screening Program and had thus not received invitations or reminders as recommended by the health authorities. The study aims to report the essence of this adverse event and describe the outcomes of reestablishing invitations in terms of participation rates and screening results. Furthermore, patient compensations to affected females diagnosed with cervical cancer and coverage in the mass media was reported.Methods: An observational study based on information from the Danish Pathology Databank, the Department of Public Health Programs, and Infomedia (a Danish database of media coverage was carried out.Results: A total of 19,106 females were affected. Of those still in the screening age, 37.7% had been tested within 3 years or 5 years despite not receiving any invitation. A total of 21.6% reconfirmed their status as unsubscribed. Of the remaining females, 55.6% were tested within a year, and 94.6% of these test results were normal. Among females aged >64 years, 12.7% accepted the offer of a final screening test. Totally, 90% of these tests were normal. Nineteen females diagnosed with cervical cancer were compensated by the Danish Patient Compensation Association with a total of €693,000, ranging from €8,900 to €239,700. Coverage of cervical cancer screening in the mass media increased from 25 items in the 3 months prior to this adverse event to 590 items in the month when it became public.Conclusion: Even though more than one-third of the affected females were tested despite not receiving regular invitations to participate in the screening

The Outcomes of an Educational Program Involving Men as Motivators to Encourage Women to Be Screened for Cervical Cancer.

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Rwamugira, Jeniffer; Maree, Johanna E; Mafutha, Nokuthula

2017-11-14

Cervical cancer is a major health problem in South Africa. Despite having a national, population-based screening program, screening coverage is as low as 13%. Based on the role men could play in increasing cervical cancer screening and the low level of knowledge, men living in the study setting had about this health issue, we developed and pilot tested an educational program aimed at empowering men to teach their female partners and family members about cervical cancer and motivate them to be screened. The study setting was Ward 23 in Muldersdrift, a semi-urban, resource poor area situated northeast of Johannesburg. We used an intervention research design to assess the outcomes of our educational program. The primary outcome was screening uptake, with knowledge the secondary outcome. Statistics and face-to-face and telephone interviews, guided by questionnaires, were used to collect the data which were analyzed by means of descriptive statistics and content analysis. A total of 120 men (n = 120) participated in the educational program and 100 (n = 100) completed the post-test questionnaire. Only 30 women (n = 30) reported for screening. The men's knowledge improved after the education program but did not guarantee that they would educate women about cervical cancer as only 55% (n = 66) indicated they taught a female family member or their partner. Cultural restrictions were the most common reason presented for not teaching women about this health issue. Ways of supporting men to overcome cultural barriers prohibiting them from discussing matters related to sexuality should be explored, before refining and replicating the intervention.

Implementation of the program for conservation and sustainable utilization of forest genetic resources in Republic of Serbia

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Šijačić-Nikolić Mirjana

2017-01-01

Full Text Available Program for conservation and sustainable utilization of forest genetic resources has been defined for 2016-2025 period and it is a base for concrete activities in this field. This Program could be divided into several parts that deal with: the legal framework for the conservation and sustainable utilization of forest genetic resources; status of forest genetic resources in Serbia; previous activities on the conservation of forest genetic resources; and objectives, priorities and measures of conservation. The Program should have an impact on the development of the forestry sector through the following activities: conservation and sustainable utilization of the available gene pool; improving forest management in accordance with conservation principles; improving the production of reproductive material of forest trees; make the public awareness of the need for conservation and sustainable utilization of forest genetic resources; fulfillment of international obligations related to this field and the possibility of joining FAO activities related to forest genetic resources - development of the national report as a part of the publication The State of the World's Forest Genetic Resources. Implementation of the Program will depend upon raising the awareness on the importance, conservation and sustainable utilization of forest genetic resources, as a precondition for the forests survival; it will depend of funds that will be allocated for this purpose and enthusiasm of people who deal with these issues.

Role of Protein Biomarkers in the Detection of High-Grade Disease in Cervical Cancer Screening Programs

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Charlotte A. Brown

2012-01-01

Full Text Available Since the Pap test was introduced in the 1940s, there has been an approximately 70% reduction in the incidence of squamous cell cervical cancers in many developed countries by the application of organized and opportunistic screening programs. The efficacy of the Pap test, however, is hampered by high interobserver variability and high false-negative and false-positive rates. The use of biomarkers has demonstrated the ability to overcome these issues, leading to improved positive predictive value of cervical screening results. In addition, the introduction of HPV primary screening programs will necessitate the use of a follow-up test with high specificity to triage the high number of HPV-positive tests. This paper will focus on protein biomarkers currently available for use in cervical cancer screening, which appear to improve the detection of women at greatest risk for developing cervical cancer, including Ki-67, p16INK4a, BD ProEx C, and Cytoactiv HPV L1.

A Peer Health Educator Program for Breast Cancer Screening Promotion: Arabic, Chinese, South Asian, and Vietnamese Immigrant Women's Perspectives.

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Crawford, Joanne; Frisina, Angela; Hack, Tricia; Parascandalo, Faye

2015-01-01

This study explored Arabic, Chinese, South Asian, and Vietnamese immigrant women's experiences with a peer health educator program, a public health program that facilitated access to breast health information and mammography screening. Framed within critical social theory, this participatory action research project took place from July 2009 to January 2011. Ten focus groups and 14 individual interviews were conducted with 82 immigrant women 40 years of age and older. Qualitative methods were utilized. Thematic content analysis derived from grounded theory and other qualitative literature was employed to analyze data. Four dominant themes emerged: Breast Cancer Prevention focused on learning within the program, Social Support provided by the peer health educator and other women, Screening Services Access for Women centered on service provision, and Program Enhancements related to specific modifications required to meet the needs of immigrant women accessing the program. The findings provide insights into strategies used to promote breast health, mammography screening, and the improvement of public health programming. Perceived barriers that continue to persist are structural barriers, such as the provision of information on breast cancer and screening by family physicians. A future goal is to improve collaborations between public health and primary care to minimize this barrier.

Including nonadditive genetic effects in mating programs to maximize dairy farm profitability.

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Aliloo, H; Pryce, J E; González-Recio, O; Cocks, B G; Goddard, M E; Hayes, B J

2017-02-01

We compared the outcome of mating programs based on different evaluation models that included nonadditive genetic effects (dominance and heterozygosity) in addition to additive effects. The additive and dominance marker effects and the values of regression on average heterozygosity were estimated using 632,003 single nucleotide polymorphisms from 7,902 and 7,510 Holstein cows with calving interval and production (milk, fat, and protein yields) records, respectively. Expected progeny values were computed based on the estimated genetic effects and genotype probabilities of hypothetical progeny from matings between the available genotyped cows and the top 50 young genomic bulls. An index combining the traits based on their economic values was developed and used to evaluate the performance of different mating scenarios in terms of dollar profit. We observed that mating programs with nonadditive genetic effects performed better than a model with only additive effects. Mating programs with dominance and heterozygosity effects increased milk, fat, and protein yields by up to 38, 1.57, and 1.21 kg, respectively. The inclusion of dominance and heterozygosity effects decreased calving interval by up to 0.70 d compared with random mating. The average reduction in progeny inbreeding by the inclusion of nonadditive genetic effects in matings compared with random mating was between 0.25 to 1.57 and 0.64 to 1.57 percentage points for calving interval and production traits, respectively. The reduction in inbreeding was accompanied by an average of A$8.42 (Australian dollars) more profit per mating for a model with additive, dominance, and heterozygosity effects compared with random mating. Mate allocations that benefit from nonadditive genetic effects can improve progeny performance only in the generation where it is being implemented, and the gain from specific combining abilities cannot be accumulated over generations. Continuous updating of genomic predictions and mate

Optimal Management Strategies for Primary HPV Testing for Cervical Screening: Cost-Effectiveness Evaluation for the National Cervical Screening Program in Australia.

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Simms, Kate T; Hall, Michaela; Smith, Megan A; Lew, Jie-Bin; Hughes, Suzanne; Yuill, Susan; Hammond, Ian; Saville, Marion; Canfell, Karen

2017-01-01

Several countries are implementing a transition to HPV testing for cervical screening in response to the introduction of HPV vaccination and evidence indicating that HPV screening is more effective than cytology. In Australia, a 2017 transition from 2-yearly conventional cytology in 18-20 to 69 years to 5-yearly primary HPV screening in 25 to 74 years will involve partial genotyping for HPV 16/18 with direct referral to colposcopy for this higher risk group. The objective of this study was to determine the optimal management of women positive for other high-risk HPV types (not 16/18) ('OHR HPV'). We used a dynamic model of HPV transmission, vaccination, natural history and cervical screening to determine the optimal management of women positive for OHR HPV. We assumed cytology triage testing was used to inform management in this group and that those with high-grade cytology would be referred to colposcopy and those with negative cytology would receive 12-month surveillance. For those with OHR HPV and low-grade cytology (considered to be a single low-grade category in Australia incorporating ASC-US and LSIL), we evaluated (1) the 20-year risk of invasive cervical cancer assuming this group are referred for 12-month follow-up vs. colposcopy, and compared this to the risk in women with low-grade cytology under the current program (i.e. an accepted benchmark risk for 12-month follow-up in Australia); (2) the population-level impact of the whole program, assuming this group are referred to 12-month surveillance vs. colposcopy; and (3) the cost-effectiveness of immediate colposcopy compared to 12-month follow-up. Evaluation was performed both for HPV-unvaccinated cohorts and cohorts offered vaccination (coverage ~72%). The estimated 20-year risk of cervical cancer is ≤1.0% at all ages if this group are referred to colposcopy vs. ≤1.2% if followed-up in 12 months, both of which are lower than the ≤2.6% benchmark risk in women with low-grade cytology in the current

Comparative performance of modern digital mammography systems in a large breast screening program

Energy Technology Data Exchange (ETDEWEB)

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.

A Case-Control Study to Estimate the Impact of the Icelandic Population-Based Mammography Screening Program on Breast Cancer Death

Energy Technology Data Exchange (ETDEWEB)

Gabe, R.; Tryggvadottir, L.; Sigfusson, B.F.; Olafsdottir, G.H.; Sigurarsson , K. [Icelandic Cancer Society (Krabbameinsfelag Islands), Reykjavik (Iceland); Duffy, S.W. [Cancer Research UK, Centre for Epidemiology, Mathematics and Stati stics, Wolfson Inst. of Preventive Medicine, London (United Kingdom)

2007-11-15

Background: The Icelandic breast cancer screening program, initiated November 1987 in Reykjavik and covering the whole country from December 1989, comprises biennial invitation to mammography for women aged 40-69 years old. Purpose: To estimate the impact of mammography service screening in Iceland on deaths from breast cancer. Material and Methods: Cases were deaths from breast cancer from 1990 onwards in women aged 40 and over at diagnosis, during the period November 1987 to December 31, 2002. Age- and screening-area-matched, population-based controls were women who had also been invited to screening but were alive at the time their case died. Results: Using conditional logistic regression on the data from 226 cases and 902 controls, the odds ratio for the risk of death from breast cancer in those attending at least one screen compared to those never screened was 0.59 (95% CI 0.41-0.84). After adjustment for healthy-volunteer bias and screening-opportunity bias, the odds ratio was 0.65 (95% CI 0.39-1.09). Conclusion: These results indicate a 35-40% reduction in breast cancer deaths by attending the Icelandic breast cancer screening program. These results are consistent with the overall evidence from other observational evaluations of mammography-based programs.

A Case-Control Study to Estimate the Impact of the Icelandic Population-Based Mammography Screening Program on Breast Cancer Death

International Nuclear Information System (INIS)

Gabe, R.; Tryggvadottir, L.; Sigfusson, B.F.; Olafsdottir, G.H.; Sigurarsson, K.; Duffy, S.W.

2007-01-01

Background: The Icelandic breast cancer screening program, initiated November 1987 in Reykjavik and covering the whole country from December 1989, comprises biennial invitation to mammography for women aged 40-69 years old. Purpose: To estimate the impact of mammography service screening in Iceland on deaths from breast cancer. Material and Methods: Cases were deaths from breast cancer from 1990 onwards in women aged 40 and over at diagnosis, during the period November 1987 to December 31, 2002. Age- and screening-area-matched, population-based controls were women who had also been invited to screening but were alive at the time their case died. Results: Using conditional logistic regression on the data from 226 cases and 902 controls, the odds ratio for the risk of death from breast cancer in those attending at least one screen compared to those never screened was 0.59 (95% CI 0.41-0.84). After adjustment for healthy-volunteer bias and screening-opportunity bias, the odds ratio was 0.65 (95% CI 0.39-1.09). Conclusion: These results indicate a 35-40% reduction in breast cancer deaths by attending the Icelandic breast cancer screening program. These results are consistent with the overall evidence from other observational evaluations of mammography-based programs

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

Science.gov (United States)

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.

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

Science.gov (United States)

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

Screening program for prostate cancer at a university hospital in eastern Saudi Arabia

International Nuclear Information System (INIS)

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)

Geometric Semantic Genetic Programming Algorithm and Slump Prediction

OpenAIRE

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...

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

Science.gov (United States)

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.

Budget Impact Analysis of Switching to Digital Mammography in a Population-Based Breast Cancer Screening Program: A Discrete Event Simulation Model

Science.gov (United States)

Comas, Mercè; Arrospide, Arantzazu; Mar, Javier; Sala, Maria; Vilaprinyó, Ester; Hernández, Cristina; Cots, Francesc; Martínez, Juan; Castells, Xavier

2014-01-01

Objective To assess the budgetary impact of switching from screen-film mammography to full-field digital mammography in a population-based breast cancer screening program. Methods A discrete-event simulation model was built to reproduce the breast cancer screening process (biennial mammographic screening of women aged 50 to 69 years) combined with the natural history of breast cancer. The simulation started with 100,000 women and, during a 20-year simulation horizon, new women were dynamically entered according to the aging of the Spanish population. Data on screening were obtained from Spanish breast cancer screening programs. Data on the natural history of breast cancer were based on US data adapted to our population. A budget impact analysis comparing digital with screen-film screening mammography was performed in a sample of 2,000 simulation runs. A sensitivity analysis was performed for crucial screening-related parameters. Distinct scenarios for recall and detection rates were compared. Results Statistically significant savings were found for overall costs, treatment costs and the costs of additional tests in the long term. The overall cost saving was 1,115,857€ (95%CI from 932,147 to 1,299,567) in the 10th year and 2,866,124€ (95%CI from 2,492,610 to 3,239,638) in the 20th year, representing 4.5% and 8.1% of the overall cost associated with screen-film mammography. The sensitivity analysis showed net savings in the long term. Conclusions Switching to digital mammography in a population-based breast cancer screening program saves long-term budget expense, in addition to providing technical advantages. Our results were consistent across distinct scenarios representing the different results obtained in European breast cancer screening programs. PMID:24832200

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

Science.gov (United States)

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.

Quality control in screening programs for cervical cancer; Control de la calidad en los programas de pesquisa de cancer cervicouterino

Energy Technology Data Exchange (ETDEWEB)

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

Symptoms and biomarkers associated with celiac disease: evaluation of a population-based screening program in adults.

Science.gov (United States)

Kårhus, Line L; Thuesen, Betina H; Rumessen, Jüri J; Linneberg, Allan

2016-11-01

To identify possible early predictors (symptoms and biomarkers) of celiac disease, compare symptoms before and after screening, and evaluate the diagnostic efficacy of serologic screening for celiac disease in an adult Danish population. This cross-sectional population-based study was based on the 5-year follow-up of the Health2006 cohort, where 2297 individuals were screened for celiac disease; 56 were antibody positive and thus invited to clinical evaluation. Eight were diagnosed with biopsy-verified celiac disease. A follow-up questionnaire was sent to antibody-positive individuals 19 months after the clinical evaluation to obtain information on their symptoms and their experience with participation in the screening. Before screening, participants subsequently diagnosed with celiac disease did not differ from the rest of the population with respect to symptoms, but had significantly lower total cholesterol. Tissue transglutaminase IgA antibodies with a cut-off of 10 U/ml had a positive predictive value of 88%. The majority of participants were satisfied with their participation in the screening program. Individuals with celiac disease were generally satisfied with having been diagnosed and 71% felt better on a gluten-free diet. There were no differences in the prevalence of symptoms between participants with and without screening-detected celiac disease, confirming that risk stratification in a general population by symptoms is difficult. The majority of participants diagnosed with celiac disease felt better on a gluten-free diet despite not reporting abdominal symptoms before diagnosis and participants in the clinical evaluation were generally satisfied with participation in the screening program.

Development of a qualitative, multiplex real-time PCR kit for screening of genetically modified organisms (GMOs).

Science.gov (United States)

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.

Improving work-up of the abnormal mammogram through organized assessment: results from the ontario breast screening program.

Science.gov (United States)

Quan, May Lynn; Shumak, Rene S; Majpruz, Vicky; Holloway, Claire M D; O'Malley, Frances P; Chiarelli, Anna M

2012-03-01

Women with an abnormal screening mammogram should ideally undergo an organized assessment to attain a timely diagnosis. This study evaluated outcomes of women undergoing work-up after abnormal mammogram through a formal breast assessment affiliate (BAA) program with explicit care pathways compared with usual care (UC) using developed quality indicators for screening mammography programs. Between January 1 and December 31, 2007, a total of 320,635 women underwent a screening mammogram through the Ontario Breast Screening Program (OBSP), of whom 25,543 had an abnormal result requiring further assessment. Established indicators assessing timeliness, appropriateness of follow-up, and biopsy rates were compared between women who were assessed through either a BAA or UC using χ(2) analysis. Work-up of the abnormal mammogram for patients screened through a BAA resulted in a greater proportion of women attaining a definitive diagnosis within the recommended time interval when a histologic diagnosis was required. In addition, use of other quality measures including specimen radiography for both core biopsies and surgical specimens and preoperative core needle biopsy was greater in BAA facilities. These findings support future efforts to increase the number of BAAs within the OBSP, because the pathways and reporting methods associated with them result in improvements in our ability to provide timely and appropriate care for women requiring work-up of an abnormal mammogram.

[Evaluations of newborn screening program performance and enzymatic diagnosis of glucose-6-phosphate dehydrogenase deficiency in Guangzhou].

Science.gov (United States)

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

Identification of familial colorectal cancer and hereditary colorectal cancer syndromes through the Dutch population-screening program : Results ofa pilot study

NARCIS (Netherlands)

van Erp, Sanne J H; Leicher, Laura W; Hennink, Simone D; Ghorbanoghli, Zeinab; Breg, Simone A C; Morreau, Hans; Nielsen, Maartje; Hardwick, James C H; Roukema, J.A.; Langers, Alexandra M J; Cappel, Wouter H de Vos Tot Nederveen; Vasen, Hans F A

2016-01-01

OBJECTIVES: In 2014, a population-screening program using immuno-faecal occult blood testing (I-FOBT) has started in the Netherlands. The aims of this study were to evaluate the proportion of individuals in the Dutch screening program with a positive I-FOBT that fulfill the criteria for familial

Practical experiences with an extended screening strategy for genetically modified organisms (GMOs) in real-life samples.

Science.gov (United States)

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.

Parental Intentions to Enroll Children in a Voluntary Expanded Newborn Screening Program

Science.gov (United States)

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

Parental intentions to enroll children in a voluntary expanded newborn screening program.

Science.gov (United States)

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.

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

NARCIS (Netherlands)

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

Cervical cancer screening in adolescents: an evidence-based internet education program for practice improvement among advanced practice nurses.

Science.gov (United States)

Choma, Kim; McKeever, Amy E

2015-02-01

The literature reports great variation in the knowledge levels and application of the recent changes of cervical cancer screening guidelines into clinical practice. Evidence-based screening guidelines for the prevention and early detection of cervical cancer offers healthcare providers the opportunity to improve practice patterns among female adolescents by decreasing psychological distress as well as reducing healthcare costs and morbidities associated with over-screening. The purpose of this pilot intervention study was to determine the effects of a Web-based continuing education unit (CEU) program on advanced practice nurses' (APNs) knowledge of current cervical cancer screening evidence-based recommendations and their application in practice. This paper presents a process improvement project as an example of a way to disseminate updated evidence-based practice guidelines among busy healthcare providers. This Web-based CEU program was developed, piloted, and evaluated specifically for APNs. The program addressed their knowledge level of cervical cancer and its relationship with high-risk human papillomavirus. It also addressed the new cervical cancer screening guidelines and the application of those guidelines into clinical practice. Results of the study indicated that knowledge gaps exist among APNs about cervical cancer screening in adolescents. However, when provided with a CEU educational intervention, APNs' knowledge levels increased and their self-reported clinical practice behaviors changed in accordance with the new cervical cancer screening guidelines. Providing convenient and readily accessible up-to-date electronic content that provides CEU enhances the adoption of clinical practice guidelines, thereby decreasing the potential of the morbidities associated with over-screening for cervical cancer in adolescents and young women. © 2014 Sigma Theta Tau International.

A Tri-Part Model for Genetics Literacy: Exploring Undergraduate Student Reasoning about Authentic Genetics Dilemmas

Science.gov (United States)

Shea, Nicole A.; Duncan, Ravit Golan; Stephenson, Celeste

2015-01-01

Genetics literacy is becoming increasingly important as advancements in our application of genetic technologies such as stem cell research, cloning, and genetic screening become more prevalent. Very few studies examine how genetics literacy is applied when reasoning about authentic genetic dilemmas. However, there is evidence that situational…

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

Directory of Open Access Journals (Sweden)

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.

Analysis of genetic polymorphism and genetic distance among four ...

African Journals Online (AJOL)

use

2011-11-21

Nov 21, 2011 ... The genomes of 4 sheep populations {Yuanqu white Tan sheep (YWT), Baozhongchang white Tan sheep. (BWT), black Tan sheep (BT) and small-tailed Han sheep (Han)} were screened using 10 microsatellite. DNA markers to estimate the genetic diversities and genetic distances among these ...

A genetic screen in Myxococcus xanthus identifies mutants that uncouple outer membrane exchange from a downstream cellular response.

Science.gov (United States)

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.

A Peer Health Educator Program for Breast Cancer Screening Promotion: Arabic, Chinese, South Asian, and Vietnamese Immigrant Women’s Perspectives

Directory of Open Access Journals (Sweden)

Joanne Crawford

2015-01-01

Full Text Available This study explored Arabic, Chinese, South Asian, and Vietnamese immigrant women’s experiences with a peer health educator program, a public health program that facilitated access to breast health information and mammography screening. Framed within critical social theory, this participatory action research project took place from July 2009 to January 2011. Ten focus groups and 14 individual interviews were conducted with 82 immigrant women 40 years of age and older. Qualitative methods were utilized. Thematic content analysis derived from grounded theory and other qualitative literature was employed to analyze data. Four dominant themes emerged: Breast Cancer Prevention focused on learning within the program, Social Support provided by the peer health educator and other women, Screening Services Access for Women centered on service provision, and Program Enhancements related to specific modifications required to meet the needs of immigrant women accessing the program. The findings provide insights into strategies used to promote breast health, mammography screening, and the improvement of public health programming. Perceived barriers that continue to persist are structural barriers, such as the provision of information on breast cancer and screening by family physicians. A future goal is to improve collaborations between public health and primary care to minimize this barrier.

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

Science.gov (United States)

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...

Adherence to cancer screening guidelines and predictors of improvement among participants in the Kansas State Employee Wellness Program.

Science.gov (United States)

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.

The Peru Cervical Cancer Screening Study (PERCAPS): The Design and Implementation of a Mother/Daughter Screen, Treat, and Vaccinate Program in the Peruvian Jungle

OpenAIRE

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...