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Sample records for prenatal diagnostic tool

  1. Amniocentesis is a safe and effective prenatal diagnostic tool: a clinical study in Eastern India

    Directory of Open Access Journals (Sweden)

    Kanchan Mukherjee

    2015-10-01

    Conclusions: Two factors, indications for amniocentesis as well as the procedure itself, contribute to the risk of miscarriage. The procedure-related risk is very low and the total risk of miscarriage is around one percent. Amniocentesis is a safe and effective prenatal diagnostic procedure. [Int J Reprod Contracept Obstet Gynecol 2015; 4(5.000: 1330-1334

  2. Prenatal Genetic Diagnostic Tests

    Science.gov (United States)

    ... are offered to all pregnant women. What is amniocentesis? Amniocentesis is a diagnostic test. It usually is done ... a very small chance of pregnancy loss with amniocentesis. Leakage of amniotic fluid and slight bleeding can ...

  3. Rig Diagnostic Tools

    Science.gov (United States)

    Soileau, Kerry M.; Baicy, John W.

    2008-01-01

    Rig Diagnostic Tools is a suite of applications designed to allow an operator to monitor the status and health of complex networked systems using a unique interface between Java applications and UNIX scripts. The suite consists of Java applications, C scripts, Vx- Works applications, UNIX utilities, C programs, and configuration files. The UNIX scripts retrieve data from the system and write them to a certain set of files. The Java side monitors these files and presents the data in user-friendly formats for operators to use in making troubleshooting decisions. This design allows for rapid prototyping and expansion of higher-level displays without affecting the basic data-gathering applications. The suite is designed to be extensible, with the ability to add new system components in building block fashion without affecting existing system applications. This allows for monitoring of complex systems for which unplanned shutdown time comes at a prohibitive cost.

  4. [Prenatal diagnostics of chromosomal aberrations Czech Republic: 1994-2007].

    Science.gov (United States)

    Gregor, V; Sípek, A; Sípek, A; Horácek, J '; Langhammer, P; Petrzílková, L; Calda, P

    2009-02-01

    An analysis of prenatal diagnostics efficiency of selected types of chromosomal aberrations in the Czech Republic in 2007. Update of 1994-2007 data according to particular selected diagnoses. Retrospective epidemiological analysis of pre- and postnatal chromosomal aberrations diagnostics and its efficiency. Data on pre- and postnatally diagnosed birth defects in the Czech Republic during 1994-2007 were used. Data on prenatally diagnosed birth defects (and for terminated pregnancies) were collected from particular departments of prenatal diagnostics, medical genetics and ultrasound diagnostics in the Czech Republic, data on birth defects in births from the National Birth Defects Register (Institute for Health Information and Statistics). Total numbers over the period under the study, mean incidences of selected types of chromosomal aberrations and mean prenatal diagnostics efficiencies were analyzed. Following chromosomal aberrations were studied: Down, Edwards, Patau, Turner and Klinefelter syndromes and syndromes 47,XXX and 47,XYY. A relative proportion of Down, Edwards and Patau syndromes as well as other autosomal and gonosomal aberration is presented in figures. Recently, trisomies 13, 18 and 21 present around 70% of all chromosomal aberrations in selectively aborted fetuses, in other pregnancies, "other chromosomal aberrations" category (mostly balanced reciprocal translocations and inversions) present more than 2/3 of all diagnoses. During the period under the study, following total numbers, mean relative incidences (per 10,000 live births, in brackets) and mean prenatal diagnostics efficiency (in %) were found in following chromosomal syndromes: Down syndrome 2,244 (16.58) and 63.37%, Edwards syndrome 521 (3.85) and 79.93%, Patau syndrome 201 (1.49) and 68.87%, Turner syndrome 380 (2.81) and 79.89%, 47,XXX syndrome 61 (0.45) and 59.74%, Klinefelter syndrome 163 (1.20) and 73.65% and 47,XYY syndrome 22 (0.16) and 54.76%. The study gives updated results of

  5. Two cases of pontocerebellar hypoplasia: ethical and prenatal diagnostic dilemma.

    Science.gov (United States)

    Ajibola, Ayodeji J; Netzloff, Michael; Samaraweera, Ranji; Omar, Said A

    2010-02-01

    We report the clinical characteristics and the outcome of two cases of pontocerebellar hypoplasia (PCH) in one family. The objective of this report is to describe the mode of presentation, discuss the clinical course, and address the dilemma of prenatal diagnosis and the prospects for genetic diagnosis for PCH. The first case is a 4-year-old boy in whom the diagnosis was made in the neonatal period. Despite extensive prenatal follow-up during the mother's subsequent pregnancy, prenatal diagnosis could not be made and a second affected child was born. Both siblings have severe developmental delay. The cases raise an important ethical dilemma about the most appropriate intervention if the mother of a child affected with PCH becomes pregnant. PCH is considered to have an autosomal-recessive mode of inheritance and a recurrence risk of 25% in each pregnancy. Until recently when genetic mutations in PCH types 2, 4, and 6 began to be identified, the lack of well-recognized genetic testing precluded experts from making clear recommendations. The best advice to these parents was difficult or elusive. With two children currently affected, should the parents terminate or continue with the latest pregnancy? Extensive monitoring with serial prenatal ultrasound failed in the previous pregnancy and resulted in the birth of the second affected child. It is evident that serial ultrasound scan may not be helpful in making the diagnosis prenatally. Therefore, other diagnostic modalities such as magnetic resonance imaging may be necessary and should be considered. With the identification of genetic basis or mutations in PCH types 2, 4, and 6 and possible development of commercial genetic testing for these types of PCH, reproductive decision or genetic testing during pregnancy should be recommended to affected families to enable informed choices. Thieme Medical Publishers.

  6. Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

    Directory of Open Access Journals (Sweden)

    Ryszard Slezak

    2008-04-01

    Full Text Available The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous abortion. Prenatal diagnosis allowed identification of malformations and/or some genetic syndromes in fetuses during the first trimester of pregnancy. Thereafter, taking into account the severity of the disorders the decision should be taken in regard of subsequent course of the pregnancy taking into account a possibilities of treatment, parent's acceptation of a handicapped child but also, in some cases the possibility of termination of the pregnancy. In prenatal testing, both screening and diagnostic procedures are included. Screening procedures such as first and second trimester biochemical and/or ultrasound screening, first trimester combined ultrasound/biochemical screening and integrated screening should be widely offered to pregnant women. However, interpretation of screening results requires awareness of both sensitivity and predictive value of these procedures. In prenatal diagnosis ultrasound/MRI searching as well as genetic procedures are offered to pregnant women. A variety of approaches for genetic prenatal analyses are now available, including preimplantation diagnosis, chorion villi sampling, amniocentesis, fetal blood sampling as well as promising experimental procedures (e.g. fetal cell and DNA isolation from maternal blood. An incredible progress in genetic methods opened new possibilities for valuable genetic diagnosis. Although karyotyping is widely accepted as golden standard, the discussion is ongoing throughout Europe concerning shifting to new genetic techniques which allow obtaining rapid results in prenatal diagnosis of aneuploidy (e.g. RAPID-FISH, MLPA, quantitative PCR.

  7. Diagnostic tools for neuropathic pain

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    CHEN Xiang-jun

    2013-09-01

    Full Text Available Neuropathic pain (NP is a kind of chronic, severe and persistent pain syndrome. Due to the underlying mechanisms, the treatment for NP differs from that of nociceptive pain. An accurate diagnosis of NP is very important. However, the present diagnostic process which mainly depends on clinical and neurophysiological assessments is quite time-consuming and low efficient. In recent years, various screening tools and drug efficacy assessments for NP have been developed and validated. They become very useful in the diagnosis and treatment of NP, as well as in epidemiological study. These tools are also very useful in elucidating the underlying mechanism of NP.

  8. Prenatal Sex Selection and Missing Girls in China: Evidence from the Diffusion of Diagnostic Ultrasound

    Science.gov (United States)

    Chen, Yuyu; Li, Hongbin; Meng, Lingsheng

    2013-01-01

    How much of the increase in sex ratio (male to female) at birth since the early 1980s in China is attributed to increased prenatal sex selection? This question is addressed by exploiting the differential introduction of diagnostic ultrasound in the country during the 1980s, which significantly reduced the cost of prenatal sex selection. We…

  9. Prenatal Sex Selection and Missing Girls in China: Evidence from the Diffusion of Diagnostic Ultrasound

    Science.gov (United States)

    Chen, Yuyu; Li, Hongbin; Meng, Lingsheng

    2013-01-01

    How much of the increase in sex ratio (male to female) at birth since the early 1980s in China is attributed to increased prenatal sex selection? This question is addressed by exploiting the differential introduction of diagnostic ultrasound in the country during the 1980s, which significantly reduced the cost of prenatal sex selection. We…

  10. Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe

    NARCIS (Netherlands)

    Garne, E; Loane, M; de Vigan, C; Scarano, G; de Walle, H; Gillerot, Y; Stoll, C; Addor, MC; Stone, D; Gener, B; Feijoo, M; Mosquera-Tenreiro, C; Gatt, M; Queisser-Luft, A; Baena, N; Dolk, H

    2004-01-01

    Objective To investigate outcomes of ultrasound investigations (US) and invasive diagnostic procedures in cases of congenital malformations (CM), and to compare the use of invasive prenatal test techniques (amniocentesis (AC) versus chorionic villus sampling (CVS)) among European populations. Design

  11. Invasive prenatal diagnostic procedures: a developing countries' perspective

    Directory of Open Access Journals (Sweden)

    Namrata Kashyap

    2016-01-01

    Conclusions: With appropriate prenatal invasive test were able to prevent birth of affected fetus which is of huge importance considering the patients who give birth to abnormal babies only to see them suffering and frequently dying also. Prenatal invasive test were able to prevent this psychological, mental as well as physical trauma in these patients. [Int J Reprod Contracept Obstet Gynecol 2016; 5(1.000: 41-47

  12. Diagnostic Tools for Learning Organizations.

    Science.gov (United States)

    Moilanen, Raili

    2001-01-01

    The Learning Organization Diamond Tool was designed for holistic analysis of 10 learning organization elements at the individual and organizational levels. A test in 25 Finnish organizations established validity. Comparison with existing tools showed that differences derive from their different purposes. (Contains 33 references.) (SK)

  13. Potential diagnostic consequences of applying non-invasive prenatal testing

    DEFF Research Database (Denmark)

    Petersen, Olav Bjørn; Vogel, I; Ekelund, C

    2014-01-01

    OBJECTIVES: Targeted non-invasive prenatal testing (NIPT) tests for trisomies 21, 18 and 13 and sex chromosome aneuploidies and could be an alternative to traditional karyotyping. The aim of this study was to determine the risk of missing other abnormal karyotypes of probable phenotypic...

  14. Invasive prenatal diagnostic practice in Denmark 1996 to 2006

    DEFF Research Database (Denmark)

    Vestergaard, Christina H F; Lidegaard, Øjvind; Tabor, Ann

    2009-01-01

    The Danish National Board of Health recommended in 2004 routine ultrasound scanning in week 12 with nuchal translucency measurement, combined with the double test to all pregnant women. Those who were found to have a risk of trisomy 21 higher than 1:300 were offered amniocentesis or chorionic...... to 52%. The mean gestational age at which the procedures were done increased--for CVS from week 11 to 13, and for amniocentesis from week 16 to 17. We thus achieved to more than double the offer of prenatal screening and at the same time reduce the number of invasive procedures by 55%....

  15. Modified breastfeeding attrition prediction tool: prenatal and postpartum tests.

    Science.gov (United States)

    Evans, Marilyn L; Dick, Margaret J; Lewallen, Lynne P; Jeffrey, Cynthia

    2004-01-01

    In earlier studies, the Breastfeeding Attrition Prediction Tool (BAPT) demonstrated predictive validity in the postpartum period. The purpose of this study was to compare the effectiveness of a modified version of the BAPT when given in the last trimester (BAPT1) and following delivery (BAPT2) in predicting breastfeeding attrition among 117 women who planned to breastfeed for at least 8 weeks. Subjects completed the BAPT during a prenatal breastfeeding class and again at delivery, and they received a phone call at 8 weeks to determine breastfeeding status. In this study, neither of the two administrations of the BAPT was predictive of breastfeeding status at 8 weeks. Findings here may differ because subjects in the current study were all committed enough to attend breastfeeding class and, thus, varied less on commitment than women in earlier studies. Significant associations were found with level of education and having a close relative who breastfed. To assist the perinatal educator in identifying women most at risk for early cessation of breastfeeding, the use of three questions regarding level of education, family support, and breastfeeding preparation is suggested.

  16. [Diagnostic tools for canine parvovirus infection].

    Science.gov (United States)

    Proksch, A L; Hartmann, K

    2015-01-01

    Canine parvovirus (CPV) infection is one of the most important and common infectious diseases in dogs, in particular affecting young puppies when maternal antibodies have waned and vaccine-induced antibodies have not yet developed. The mortality rate remains high. Therefore, a rapid and safe diagnostic tool is essential to diagnose the disease to 1) provide intensive care treatment and 2) to identify virus-shedding animals and thus prevent virus spread. Whilst the detection of antibodies against CPV is considered unsuitable to diagnose the disease, there are several different methods to directly detect complete virus, virus antigen or DNA. Additionally, to test in commercial laboratories, rapid in-house tests based on ELISA are available worldwide. The specificity of the ELISA rapid in-house tests is reported to be excellent. However, results on sensitivity vary and high numbers of false-negative results are commonly reported, which potentially leads to misdiagnosis. Polymerase chain reaction (PCR) is a very sensitive and specific diagnostic tool. It also provides the opportunity to differentiate vaccine strains from natural infection when sequencing is performed after PCR.

  17. Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands.

    Science.gov (United States)

    Dommering, Charlotte J; Henneman, Lidewij; van der Hout, Annemarie H; Jonker, Marianne A; Tops, Carli M J; van den Ouweland, Ans M W; van der Luijt, Rob B; Mensenkamp, Arjen R; Hogervorst, Frans B L; Redeker, Egbert J W; de Die-Smulders, Christine E M; Moll, Annette C; Meijers-Heijboer, Hanne

    2017-04-01

    Since the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes may opt for prenatal diagnoses (PND). We studied the uptake of prenatal diagnosis for five hereditary cancer syndromes in the Netherlands. Uptake for retinoblastoma (Rb) was compared with uptake for Von Hippel-Lindau disease (VHL), Li-Fraumeni syndrome (LFS), familial adenomatous polyposis (FAP), and hereditary breast ovarian cancer (HBOC). A questionnaire was completed by all nine DNA-diagnostic laboratories assessing the number of independent mutation-positive families identified from the start of diagnostic testing until May 2013, and the number of PNDs performed for these syndromes within these families. Of 187 families with a known Rb-gene mutation, 22 had performed PND (11.8%), this was significantly higher than uptake for FAP (1.6%) and HBOC (<0.2%). For VHL (6.5%) and LFS (4.9%) the difference was not statistically significant. PND for Rb started 3 years after introduction of diagnostic DNA testing and remained stable over the years. For the other cancer syndromes PND started 10-15 years after the introduction and uptake for PND showed an increase after 2009. We conclude that uptake of PND for Rb was significantly higher than for FAP and HBOC, but not different from VHL and LFS. Early onset, high penetrance, lack of preventive surgery and perceived burden of disease may explain these differences.

  18. Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing.

    Science.gov (United States)

    Yu, Stephanie C Y; Chan, K C Allen; Zheng, Yama W L; Jiang, Peiyong; Liao, Gary J W; Sun, Hao; Akolekar, Ranjit; Leung, Tak Y; Go, Attie T J I; van Vugt, John M G; Minekawa, Ryoko; Oudejans, Cees B M; Nicolaides, Kypros H; Chiu, Rossa W K; Lo, Y M Dennis

    2014-06-10

    Noninvasive prenatal testing using fetal DNA in maternal plasma is an actively researched area. The current generation of tests using massively parallel sequencing is based on counting plasma DNA sequences originating from different genomic regions. In this study, we explored a different approach that is based on the use of DNA fragment size as a diagnostic parameter. This approach is dependent on the fact that circulating fetal DNA molecules are generally shorter than the corresponding maternal DNA molecules. First, we performed plasma DNA size analysis using paired-end massively parallel sequencing and microchip-based capillary electrophoresis. We demonstrated that the fetal DNA fraction in maternal plasma could be deduced from the overall size distribution of maternal plasma DNA. The fetal DNA fraction is a critical parameter affecting the accuracy of noninvasive prenatal testing using maternal plasma DNA. Second, we showed that fetal chromosomal aneuploidy could be detected by observing an aberrant proportion of short fragments from an aneuploid chromosome in the paired-end sequencing data. Using this approach, we detected fetal trisomy 21 and trisomy 18 with 100% sensitivity (T21: 36/36; T18: 27/27) and 100% specificity (non-T21: 88/88; non-T18: 97/97). For trisomy 13, the sensitivity and specificity were 95.2% (20/21) and 99% (102/103), respectively. For monosomy X, the sensitivity and specificity were both 100% (10/10 and 8/8). Thus, this study establishes the principle of size-based molecular diagnostics using plasma DNA. This approach has potential applications beyond noninvasive prenatal testing to areas such as oncology and transplantation monitoring.

  19. NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy.

    Science.gov (United States)

    Wilson, K L; Czerwinski, J L; Hoskovec, J M; Noblin, S J; Sullivan, C M; Harbison, A; Campion, M W; Devary, K; Devers, P; Singletary, C N

    2013-02-01

    The BUN and FASTER studies, two prospective multicenter trials in the United States, validated the accuracy and detection rates of first and second trimester screening previously reported abroad. These studies, coupled with the 2007 release of the American College of Obstetricians and Gynecologists (ACOG) Practice Bulletin that endorsed first trimester screening as an alternative to traditional second trimester multiple marker screening, led to an explosion of screening options available to pregnant women. ACOG also recommended that invasive diagnostic testing for chromosome aneuploidy be made available to all women regardless of maternal age. More recently, another option known as Non-invasive Prenatal Testing (NIPT) became available to screen for chromosome aneuploidy. While screening and testing options may be limited due to a variety of factors, healthcare providers need to be aware of the options in their area in order to provide their patients with accurate and reliable information. If not presented clearly, patients may feel overwhelmed at the number of choices available. The following guideline includes recommendations for healthcare providers regarding which screening or diagnostic test should be offered based on availability, insurance coverage, and timing of a patient's entry into prenatal care, as well as a triage assessment so that a general process can be adapted to unique situations.

  20. Diagnostic performance and costs of contingent screening models for trisomy 21 incorporating non-invasive prenatal testing.

    Science.gov (United States)

    Maxwell, Susannah; O'Leary, Peter; Dickinson, Jan E; Suthers, Graeme K

    2017-08-01

    Contingent screening for trisomy 21 using non-invasive prenatal testing has the potential to reduce invasive diagnostic testing and increase the detection of trisomy 21. To describe the diagnostic and economic performance of prenatal screening models for trisomy 21 that use non-invasive prenatal testing as a contingent screen across a range of combined first trimester screening risk cut-offs from a public health system perspective. Using a hypothetical cohort of 300 000 pregnancies, we modelled the outcomes of 25 contingent non-invasive prenatal testing screening models and compared these to conventional screening, offering women with a high-risk (1 > 300) combined first trimester screening result an invasive test. The 25 models used a range of risk cut-offs. High-risk women were offered invasive testing. Intermediate-risk women were offered non-invasive prenatal testing. We report the cost of each model, detection rate, costs per diagnosis, invasive tests per diagnosis and the number of fetal losses per diagnosis. The cost per prenatal diagnosis of trisomy 21 using the conventional model was $51 876 compared to the contingent models which varied from $49 309-66 686. The number of diagnoses and cost per diagnosis increased as the intermediate-risk threshold was lowered. Results were sensitive to trisomy 21 incidence, uptake of testing and cost of non-invasive prenatal testing. Contingent non-invasive prenatal testing models using more sensitive combined first trimester screening risk cut-offs than conventional screening improved the detection rate of trisomy 21, reduced procedure-related fetal loss and could potentially be provided at a lower cost per diagnosis than conventional screening. © 2017 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  1. Male Partners’ Involvement Towards Prenatal Screening And Diagnostic Testing For Down Syndrome

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    Niken Kusumaningrum

    2015-03-01

    Full Text Available Introduction: Now, male partners’ involvement in prenatal screening and diagnostic testing for Down syndrome is becoming increasingly recognized as well to ensure that parents are well informed of the risks and benefits of screening. The aim of study was to understand the degree of male partners’ involvement during pregnancy in Singapore population. Methods: A cross-sectional survey of male partners’ attending prenatal counseling was performed. The instrument used to measure the level of involvement is a self-assessment questionnaire that identifies the role of male partners with a Likert scale. Descriptive statistics was used to analyze data gained. Result: A total of 107 participants completed the questionnaire. Sixty-seven percent of male partners were found to have a highlevel of involvement while 32.7% was found to have a medium level of involvement. Most of them stated that women can pursue prenatal testing without their permission. Male partners found it more important for them to accompany their spouse to amniocentesis or CVS than to the Down syndrome screening test. When participants were asked about how much information about Down syndrome they sought prior to the appointment, how much discussion they had with their spouse about Down syndrome testing, and about whether they or their spouse should be the first person to receive test results, most stated that they were undecided. Conclusion: These results revealed that male partners were very well involved in the Down syndrome testing during pregnancy and future studies should assess possible underlying factors that influence male partners’ involvement.

  2. The size of the thymus: an important immunological diagnostic tool?

    DEFF Research Database (Denmark)

    Jeppesen, Dorthe Lisbeth

    2003-01-01

    of the thymus relevant to its function and could measurement of the thymus be a useful immunological diagnostic tool in the investigation of thymic function in humans with a depressed immune system? Conclusion: Studies using the size of the thymus as an immunological diagnostic tool should be encouraged....

  3. Post-and prenatal testing for FSHD: Diagnostic approach for sporadic and familial cases

    Energy Technology Data Exchange (ETDEWEB)

    Bakker, E.; Wielen, M.J.R. van der; Losekoot, M. [Leiden Univ. (Netherlands)] [and others

    1994-09-01

    Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disorder. A major locus for FSHD was localized at the distal part of chromosome 4q. More recently, a disease associated DNA rearrangement was detected with the polymorphic probe p13E-11 (D4F104S1). In most FSHD patients, a shortened (< 28 kb instead of 50-300 kb) allele was detected. In sporadic patients a de novo deletion was found to be associated with the occurrence of FSHD. Diagnostically there were a number of problems to overcome. (1) About 5% of families show no linkage to chromosome 4q35. (2) Some 10% normal individuals show a shortened p13E11 allele, which is located at chromosome 10q. Our diagnostic strategy is as follows: If in sporadic patients a shortened p13E-11 allele is detected and neither parent shows this allele, then a de novo deletion has occurred and FSHD is proven. If no shortened allele is detected FSHD is less likely. In case one of the parents shows a shortened allele then clinical investigations and linkage studies are performed for both chromosome 4 and 10 markers. In familial cases both p13E-11 and polymorphic markers are tested. A shortened p13E-11 allele and/or chromosome 4 haplotype segregating with FSHD can be used for presymptomatic and prenatal diagnosis. Up to now, 45 sporadic cases and 21 families were referred for diagnosis. In 22 sporadic cases a shortened allele was detected, 13 were proven de novo. The first prenatal test was recently performed. The index patient was a de novo case with a shortened allele; the fetus had inherited this allele.

  4. Diagnostics Tools Identify Faults Prior to Failure

    Science.gov (United States)

    2013-01-01

    Through the SBIR program, Rochester, New York-based Impact Technologies LLC collaborated with Ames Research Center to commercialize the Center s Hybrid Diagnostic Engine, or HyDE, software. The fault detecting program is now incorporated into a software suite that identifies potential faults early in the design phase of systems ranging from printers to vehicles and robots, saving time and money.

  5. ODX - diagnostic standard and development tools; ODX Diagnosestandard und Entwicklungswerkzeuge

    Energy Technology Data Exchange (ETDEWEB)

    Gomez, A.; Kricke, C.; Meyer, J. [ETAS GmbH, Stuttgart (Germany)

    2005-09-01

    ODX, the new standard for the description of diagnostic protocols and data for electronic control units was released a year ago. After a brief review of the standard, ETAS introduces development tools for measuring, calibration, and diagnostic applications, with an emphasis on ECU calibration tasks. (orig.)

  6. Saliva as a potential diagnostic tool.

    Science.gov (United States)

    Deepa, T; Thirrunavukkarasu, N

    2010-07-01

    Saliva is a complex fluid consisting of secretions from the major and minor salivary glands. Gland-specific saliva can be used to diagnose any pathology from the specific major salivary gland. Whole saliva has serum constituents that are derived from the local vasculature of the salivary glands and gingival crevicular fluid. Saliva, as a diagnostic fluid, has distinctive advantages over serum as whole saliva can be collected non-invasively by individuals with limited training using simple equipments. This review aimed to explore the diagnostic applications of saliva in systemic and oral diseases. Analysis of saliva can offer a cost-effective approach to screen for a larger population. Salivary analysis may be useful for diagnosing systemic oral disorders, as well as for monitoring hormone and therapeutic levels of drug.

  7. Saliva as a potential diagnostic tool

    Directory of Open Access Journals (Sweden)

    T Deepa

    2010-01-01

    Full Text Available Saliva is a complex fluid consisting of secretions from the major and minor salivary glands. Gland-specific saliva can be used to diagnose any pathology from the specific major salivary gland. Whole saliva has serum constituents that are derived from the local vasculature of the salivary glands and gingival crevicular fluid. Saliva, as a diagnostic fluid, has distinctive advantages over serum as whole saliva can be collected non-invasively by individuals with limited training using simple equipments. This review aimed to explore the diagnostic applications of saliva in systemic and oral diseases. Analysis of saliva can offer a cost-effective approach to screen for a larger population. Salivary analysis may be useful for diagnosing systemic oral disorders, as well as for monitoring hormone and therapeutic levels of drug.

  8. Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000.

    Science.gov (United States)

    Creighton, S; Almqvist, E W; MacGregor, D; Fernandez, B; Hogg, H; Beis, J; Welch, J P; Riddell, C; Lokkesmoe, R; Khalifa, M; MacKenzie, J; Sajoo, A; Farrell, S; Robert, F; Shugar, A; Summers, A; Meschino, W; Allingham-Hawkins, D; Chiu, T; Hunter, A; Allanson, J; Hare, H; Schween, J; Collins, L; Sanders, S; Greenberg, C; Cardwell, S; Lemire, E; MacLeod, P; Hayden, M R

    2003-06-01

    Predictive and pre-natal testing for Huntington's Disease (HD) has been available since 1987. Initially this was offered by linkage analysis, which was surpassed by the advent of the direct mutation test for HD in 1993. Direct mutation analysis provided an accurate test that not only enhanced predictive and pre-natal testing, but also permitted the diagnostic testing of symptomatic individuals. The objective of this study was to investigate the uptake, utilization, and outcome of predictive, pre-natal and diagnostic testing in Canada from 1987 to April 1, 2000. A retrospective design was used; all Canadian medical genetics centres and their affiliated laboratories offering genetic testing for HD were invited to participate. A total of 15 of 22 centres (68.2%), currently offering or ever having offered genetic testing for HD, responded, providing data on test results, demographics, and clinical history. A total of 1061 predictive tests, 15 pre-natal tests, and 626 diagnostic tests were performed. The uptake for predictive testing was approximately 18% of the estimated at-risk Canadian population, ranging from 12.5% in the Maritimes to 20.7% in British Columbia. There appears to have been a decline in the rate of testing in recent years. Of the predictive tests, 45.0% of individuals were found to have an increased risk, and a preponderance of females (60.2%) sought testing. A greater proportion of those at testing once direct CAG mutation analysis had become available (10.9% after mutation analysis vs 4.7% before mutation analysis, p = 0.0077). Very few pre-natal tests were requested. Of the 15 pre-natal tests, 12 had an increased risk, resulting in termination of pregnancy in all but one. Diagnostic testing identified 68.5% of individuals to be positive by mutation analysis, while 31.5% of those with HD-like symptoms were not found to have the HD mutation. The positive diagnostic tests included 24.5% of individuals with no known prior family history of HD.

  9. Merits and pitfalls of currently used diagnostic tools in mycetoma.

    Directory of Open Access Journals (Sweden)

    Wendy W J van de Sande

    2014-07-01

    Full Text Available Treatment of mycetoma depends on the causative organism and since many organisms, both actinomycetes (actinomycetoma and fungi (eumycetoma, are capable of producing mycetoma, an accurate diagnosis is crucial. Currently, multiple diagnostic tools are used to determine the extent of infections and to identify the causative agents of mycetoma. These include various imaging, cytological, histopathological, serological, and culture techniques; phenotypic characterisation; and molecular diagnostics. In this review, we summarize these techniques and identify their merits and pitfalls in the identification of the causative agents of mycetoma and the extent of the disease. We also emphasize the fact that there is no ideal diagnostic tool available to identify the causative agents and that future research should focus on the development of new and reliable diagnostic tools.

  10. Merits and pitfalls of currently used diagnostic tools in mycetoma.

    Science.gov (United States)

    van de Sande, Wendy W J; Fahal, Ahmed H; Goodfellow, Michael; Mahgoub, El Sheikh; Welsh, Oliverio; Zijlstra, Ed E

    2014-07-01

    Treatment of mycetoma depends on the causative organism and since many organisms, both actinomycetes (actinomycetoma) and fungi (eumycetoma), are capable of producing mycetoma, an accurate diagnosis is crucial. Currently, multiple diagnostic tools are used to determine the extent of infections and to identify the causative agents of mycetoma. These include various imaging, cytological, histopathological, serological, and culture techniques; phenotypic characterisation; and molecular diagnostics. In this review, we summarize these techniques and identify their merits and pitfalls in the identification of the causative agents of mycetoma and the extent of the disease. We also emphasize the fact that there is no ideal diagnostic tool available to identify the causative agents and that future research should focus on the development of new and reliable diagnostic tools.

  11. Different diagnostic tools in nonfunctional overreaching

    NARCIS (Netherlands)

    Nederhof, E.; Zwerver, J.; Brink, M.; Meeusen, R.; Lemmink, K.

    2008-01-01

    The current diagnosis of overreaching and overtraining is based on exclusion. In the present paper, four possible confirmative tools have been examined in three female speed skaters between 16 and 19 years old. A nonfunctional overreached (NFO) athlete, an athlete who was recovering from NFO and a h

  12. Different diagnostic tools in nonfunctional overreaching

    NARCIS (Netherlands)

    Nederhof, E.; Zwerver, J.; Brink, M.; Meeusen, R.; Lemmink, K.

    2008-01-01

    The current diagnosis of overreaching and overtraining is based on exclusion. In the present paper, four possible confirmative tools have been examined in three female speed skaters between 16 and 19 years old. A nonfunctional overreached (NFO) athlete, an athlete who was recovering from NFO and a h

  13. Comportamiento del programa de diagnóstico prenatal cromosómico Behavior of the prenatal chromosomal diagnostic program

    Directory of Open Access Journals (Sweden)

    Mabel Domínguez Mena

    2005-04-01

    Full Text Available Se realizó un estudio descriptivo en el Centro de Desarrollo de la Genética del municipio La Lisa, en el período comprendido de enero de 1999 hasta diciembre de 2003. La muestra la conformaron 251 embarazadas con edad materna avanzada (38 años o más que acudieron a recibir asesoramiento genético por tener riesgo incrementado de cromosomopatías. Los datos fueron procesados con el cálculo porcentual. Se realizaron diagnóstico prenatal (DPN 189 pacientes (75,29 %, y se obtuvieron 6 casos positivos, 4 síndrome Down (47 XY+21, 1 súper macho (47 XYY, 1 trisomía 18 (47 XY+18 y 15 casos sin resultados. No se realizaron el diagnóstico prenatal 62 pacientes, 12 por amenaza de aborto, 25 por edad gestacional avanzada, 25 por negarse a la realización del proceder y 3 por otras causas. El asesoramiento genético fue no directivo, respetando las decisiones personales, confiabilidad, exponiendo la relación riesgo / beneficio y obteniendo el consentimiento informado para su realización.A descriptive study was conducted in the Center of Genetic Development in La Lisa municipality from January 1999 to December 2003. The sample was composed of 251 pregnant women with advanced maternal age (38 or over that seeked genetic counselling for having increased risk of chromosomopathies. The data were processed by the percentage calculation. 189 patients (75.29 % were prenatally diagnosed (PND. 6 cases were positive, 4 Down's syndrome (47 XY+ 21, 1 super male (47 XYY, 1 trisomy 18 (47 XY + 18 and 15 cases without results. The prenatal diagnosis was not made in 62 patients, 12 due to threatened abortion, 25 due to advanced gestational age, 25 rejected the procedure and 3 for other causes. The genetic counseling was not directive. It respected the personal decisions and it was also reliable, presented the risk-benefit relation and required the informed consent.

  14. Peripheral Lymphadenopathy: Approach and Diagnostic Tools

    Directory of Open Access Journals (Sweden)

    Shahrzad Mohseni

    2014-03-01

    Full Text Available Peripheral lymph nodes, located deep in the subcutaneous tissue, clean antigens from the extracellular fluid. Generally, a normal sized lymph node is less than one cm in diameter. Peripheral lymphadenopathy (LAP is frequently due to a local or systemic, benign, self-limited, infectious disease. However, it could be a manifestation of underlying malignancy. Seventy-five percent of all LAPs are localized, with more than 50% being seen in the head and neck area. LAP may be localized or generalized. Cervical lymph nodes are involved more often than the other lymphatic regions. Generally, it is due to infections, but most of the supraclavicular lymphadenopathies are associated with malignancy. Based on different geographical areas, the etiology is various. For example, in tropical areas, tuberculosis (TB is a main benign cause of LAP in adults and children. Complete history taking and physical examination are mandatory for diagnosis; however, laboratory tests, imaging diagnostic methods, and tissue samplings are the next steps. Tissue diagnosis by fine needle aspiration biopsy or excisional biopsy is the gold standard evaluation for LAP. We concluded that in patients with peripheral LAP, the patient’s age and environmental exposures along with a careful history taking and physical examination can help the physician to request step by step further work-up when required, including laboratory tests, imaging modalities, and tissue diagnosis, to reach an appropriate diagnosis.

  15. Implementation of an electronic genomic and family health history tool in primary prenatal care.

    Science.gov (United States)

    Edelman, Emily A; Lin, Bruce K; Doksum, Teresa; Drohan, Brian; Edelson, Vaughn; Dolan, Siobhan M; Hughes, Kevin S; O'Leary, James; Galvin, Shelley L; Degroat, Nicole; Pardanani, Setul; Feero, W Gregory; Adams, Claire; Jones, Renee; Scott, Joan

    2014-03-01

    "The Pregnancy and Health Profile," (PHP) is a free genetic risk assessment software tool for primary prenatal providers that collects patient-entered family (FHH), personal, and obstetrical health history, performs risk assessment, and presents the provider with clinical decision support during the prenatal encounter. The tool is freely available for download at www.hughesriskapps.net. We evaluated the implementation of PHP in four geographically diverse clinical sites. Retrospective chart reviews were conducted for patients seen prior to the study period and for patients who used the PHP to collect data on documentation of FHH, discussion of cystic fibrosis (CF) and hemoglobinopathy (HB) carrier screening, and CF and HB interventions (tests, referrals). Five hundred pre-implementation phase and 618 implementation phase charts were reviewed. Documentation of a 3-generation FHH or pedigree improved at three sites; patient race/ethnicity at three sites, father of the baby (FOB) race/ethnicity at all sites, and ancestry for the patient and FOB at three sites (P < 0.001-0001). CF counseling improved for implementation phase patients at one site (8% vs. 48%, P < 0.0001) and CF screening/referrals at two (2% vs. 14%, P < 0.0001; 6% vs. 14%; P = 0.05). Counseling and intervention rates did not increase for HB. This preliminary study suggests that the PHP can improve documentation of FHH, race, and ancestry, as well as the compliance with current CF counseling and intervention guidelines in some prenatal clinics. Future evaluation of the PHP should include testing in a larger number of clinical environments, assessment of additional performance measures, and evaluation of the system's overall clinical utility.

  16. The size of the thymus: an important immunological diagnostic tool?

    DEFF Research Database (Denmark)

    Jeppesen, Dorthe Lisbeth

    2003-01-01

    The report on the influence of seasonal factors on thymic size in early life describes a pattern of ultrasonographically measured thymic growth in Gambian infants including the finding of a smaller thymus in the hungry season. These factors raise a number of important questions: Is the size...... of the thymus relevant to its function and could measurement of the thymus be a useful immunological diagnostic tool in the investigation of thymic function in humans with a depressed immune system? Conclusion: Studies using the size of the thymus as an immunological diagnostic tool should be encouraged....

  17. Evaluation of a novel electronic genetic screening and clinical decision support tool in prenatal clinical settings.

    Science.gov (United States)

    Edelman, Emily A; Lin, Bruce K; Doksum, Teresa; Drohan, Brian; Edelson, Vaughn; Dolan, Siobhan M; Hughes, Kevin; O'Leary, James; Vasquez, Lisa; Copeland, Sara; Galvin, Shelley L; DeGroat, Nicole; Pardanani, Setul; Gregory Feero, W; Adams, Claire; Jones, Renee; Scott, Joan

    2014-07-01

    "The Pregnancy and Health Profile" (PHP) is a free prenatal genetic screening and clinical decision support (CDS) software tool for prenatal providers. PHP collects family health history (FHH) during intake and provides point-of-care risk assessment for providers and education for patients. This pilot study evaluated patient and provider responses to PHP and effects of using PHP in practice. PHP was implemented in four clinics. Surveys assessed provider confidence and knowledge and patient and provider satisfaction with PHP. Data on the implementation process were obtained through semi-structured interviews with administrators. Quantitative survey data were analyzed using Chi square test, Fisher's exact test, paired t tests, and multivariate logistic regression. Open-ended survey questions and interviews were analyzed using qualitative thematic analysis. Of the 83% (513/618) of patients that provided feedback, 97% felt PHP was easy to use and 98% easy to understand. Thirty percent (21/71) of participating physicians completed both pre- and post-implementation feedback surveys [13 obstetricians (OBs) and 8 family medicine physicians (FPs)]. Confidence in managing genetic risks significantly improved for OBs on 2/6 measures (p values ≤0.001) but not for FPs. Physician knowledge did not significantly change. Providers reported value in added patient engagement and reported mixed feedback about the CDS report. We identified key steps, resources, and staff support required to implement PHP in a clinical setting. To our knowledge, this study is the first to report on the integration of patient-completed, electronically captured and CDS-enabled FHH software into primary prenatal practice. PHP is acceptable to patients and providers. Key to successful implementation in the future will be customization options and interoperability with electronic health records.

  18. Exfoliative cytology as a rapid diagnostic tool for lobomycosis.

    Science.gov (United States)

    Talhari, Carolina; Chrusciak-Talhari, Anette; de Souza, João Vicente Braga; Araújo, José Ribamar; Talhari, Sinésio

    2009-03-01

    Lobomycosis is a common subcutaneous mycosis in South America. It is caused by Lacazia loboi. We report two cases of lobomycosis which were diagnosed by exfoliative cytology without any special staining. We highlight this diagnostic tool as a simple, low-cost, painless, non-invasive and fast method for the diagnosis of lobomycosis.

  19. Merits and Pitfalls of Currently Used Diagnostic Tools in Mycetoma

    NARCIS (Netherlands)

    W.W.J. van de Sande (Wendy); A.H. Fahal (Ahmed); H. Goodfellow (Henry); E.S. Mahgoub (El Sheikh); O. Welsh (Oliverio); E. Zijlstra (Ed)

    2014-01-01

    textabstractTreatment of mycetoma depends on the causative organism and since many organisms, both actinomycetes (actinomycetoma) and fungi (eumycetoma), are capable of producing mycetoma, an accurate diagnosis is crucial. Currently, multiple diagnostic tools are used to determine the extent of infe

  20. Hair: A Diagnostic Tool to Complement Blood Serum and Urine.

    Science.gov (United States)

    Maugh, Thomas H., II

    1978-01-01

    Trace elements and some drugs can be identified in hair and it seems likely that other organic chemicals will be identifiable in the future. Since hair is so easily collected, stored, and analyzed it promises to be an ideal complement to serum and urine analysis as a diagnostic tool. (BB)

  1. An early diagnostic tool for diabetic peripheral neuropathy in rats

    NARCIS (Netherlands)

    S. Kambiz (Shoista); J.W. van Neck (Han); S.G. Cosgun (Saniye G.); M.H.N. van Velzen (M. H N); J.A.M.J.L. Janssen (Joseph); Avazverdi, N. (Naim); S.E.R. Hovius (Steven); E.T. Walbeehm (Erik)

    2015-01-01

    textabstractThe skin's rewarming rate of diabetic patients is used as a diagnostic tool for early diagnosis of diabetic neuropathy. At present, the relationship between microvascular changes in the skin and diabetic neuropathy is unclear in streptozotocin (STZ) diabetic rats. The aim of this study w

  2. An early diagnostic tool for diabetic peripheral neuropathy in rats

    NARCIS (Netherlands)

    Kambiz, S.; Neck, J.W. van; Cosgun, S.G.; Velzen, M.H. van; Janssen, J.A.M.; Avazverdi, N.; Hovius, S.E.; Walbeehm, E.T.

    2015-01-01

    The skin's rewarming rate of diabetic patients is used as a diagnostic tool for early diagnosis of diabetic neuropathy. At present, the relationship between microvascular changes in the skin and diabetic neuropathy is unclear in streptozotocin (STZ) diabetic rats. The aim of this study was to invest

  3. Comparative Evaluation of Diagnostic Value of Prenatal USG and MRI in the Diagnosis of Fetal Central Nervous System Defects

    Directory of Open Access Journals (Sweden)

    I. Herman-Sucharska

    2011-05-01

    Full Text Available Background/Objective: The purpose of the study was"nto compare the diagnostic values of prenatal ultrasound"nand MRI in fetal central nervous system defects."nPatients and Methods: Three-hundred eighty-five"nMRIs were performed in pregnant women with the"nultrasound suspicion of fetal defect. US was conducted"nwith the Voluson-Kretz730PRO. In 158 cases (41%"nfetal CNS defect was found. MR was performed with the"n1.5T system, torso surface coil, SSFSET2 sequence. MR"nresults were compared with prenatal US and verified"nafter the delivery by physical tests, US, TK and surgery"nor in cases of infant death with a pathomorphological"nexamination."nResults: Of 158 infants, eight died after delivery, 93 were"nconsulted in the neurosurgical clinic, 19 underwent a"nneurosurgery treatment and the remaining seven infants'"nfate is unknown. Fetal MRI widened the pertinent US"ndiagnoses in 62%. The 100% compliance is pertained"nto hydrocephalus and anencephaly. US results failed"nin some cases of corpus callosum agenesis, aqueductal"nstenosis, intracranial cyst, holoprosencephaly,"nschizencephaly, Dandy-Walker complex, syringomyelia,"ndiplomyelia and myelomeningocele. In 15 cases, MRI"ncompletely changed the prognosis and treatment"n(holoprosencephaly, myelomeningocoele, diplomyelia,"nintracranial cyst, lung hypoplasia, urinary bladder"nagenesis-not detected during prenatal US. Postnatal"nexaminations and surgery confirmed the results of"nprenatal MRI."nConclusion: MRI compared with prenatal US proved"nbetter effectiveness in imaging of fetal CNS defects,"nespecially in the imaging of the posterior fossa structures,"nthe ventricular system, the corpus callosum, the"nevaluation of meningocoele contents and the complex"nmalformations of the central nervous system.

  4. Prenatal diagnostics in TESA/PESA pregnancies in Denmark 1995-2007: a shift from invasive procedures to nuchal translucency examination

    DEFF Research Database (Denmark)

    Fedder, Jens; Erb, Karin; Humaidan, Peter

    2011-01-01

    Evidently, children born after intracytoplasmic sperm injection (ICSI) are at an increased risk of having sex chromosomal abnormalities. Here we evaluate the change in methods used for prenatal diagnostics in patients having ICSI with epididymal or testicular sperm from the introduction of the pr......Evidently, children born after intracytoplasmic sperm injection (ICSI) are at an increased risk of having sex chromosomal abnormalities. Here we evaluate the change in methods used for prenatal diagnostics in patients having ICSI with epididymal or testicular sperm from the introduction...... of the procedure in 1995 until December 2007. Four hundred and fifty pregnancies resulted in the birth of 553 children. Of the Danish subpopulation 115 (34.2%) received nuchal translucency examination (NT) and 43 (12.8%) received invasive prenatal diagnostics (IPD). IPD was carried out in 11 out of 23 couples (48...

  5. Diagnosis demystified: CT as diagnostic tool in endodontics.

    Science.gov (United States)

    Shruthi, Nagaraja; Murthy, B V Sreenivasa; Sundaresh, K J; Mallikarjuna, Rachappa

    2013-06-27

    Diagnosis in endodontics is usually based on clinical and radiographical presentations, which are only empirical methods. The role of healing profession is to apply knowledge and skills towards maintaining and restoring the patient's health. Recent advances in imaging technologies have added to correct interpretation and diagnosis. CT is proving to be an effective tool in solving endodontic mysteries through its three-dimensional visualisation. CT imaging offers many diagnostic advantages to produce reconstructed images in selected projection and low-contrast resolution far superior to that of all other X-ray imaging modalities. This case report is an endeavour towards effective treatment planning of cases with root fracture, root resorption using spiral CT as an adjuvant diagnostic tool.

  6. Polymerase chain reaction: A molecular diagnostic tool in periodontology.

    Science.gov (United States)

    Maheaswari, Rajendran; Kshirsagar, Jaishree Tukaram; Lavanya, Nallasivam

    2016-01-01

    This review discusses the principles of polymerase chain reaction (PCR) and its application as a diagnostic tool in periodontology. The relevant MEDLINE and PubMed indexed journals were searched manually and electronically by typing PCR, applications of PCR, PCR in periodontics, polymorphism studies in periodontitis, and molecular techniques in periodontology. The searches were limited to articles in English language and the articles describing PCR process and its relation to periodontology were collected and used to prepare a concise review. PCR has now become a standard diagnostic and research tool in periodontology. Various studies reveal that its sensitivity and specificity allow it as a rapid, efficient method of detecting, identifying, and quantifying organism. Different immune and inflammatory markers can be identified at the mRNA expression level, and also the determination of genetic polymorphisms, thus providing the deeper insight into the mechanisms underlying the periodontal disease.

  7. A defect-driven diagnostic method for machine tool spindles.

    Science.gov (United States)

    Vogl, Gregory W; Donmez, M Alkan

    2015-01-01

    Simple vibration-based metrics are, in many cases, insufficient to diagnose machine tool spindle condition. These metrics couple defect-based motion with spindle dynamics; diagnostics should be defect-driven. A new method and spindle condition estimation device (SCED) were developed to acquire data and to separate system dynamics from defect geometry. Based on this method, a spindle condition metric relying only on defect geometry is proposed. Application of the SCED on various milling and turning spindles shows that the new approach is robust for diagnosing the machine tool spindle condition.

  8. Condition monitoring, diagnostic and controlling tool for boiler feed pump

    Energy Technology Data Exchange (ETDEWEB)

    Ahmed, Sohail [Siemens AG, Muelheim (Germany). Energy Sector; Leithner, Reinhard; Kosyna, Guenter [TU Braunschweig (Germany)

    2010-07-01

    The boiler feed pump is an important component of a thermal power generation cycle and demands high safety and unquestionable availability for flexible power plant operation. In this research paper, the methodology of a general purpose condition monitoring, diagnostic and controlling tool is presented, which can address the challenges of operational safety and availability as well as optimal operation of a boiler feed pump. This tool not only effectively records the life time consumption of both casings and rotors and monitors the small gaps between casings and rotors but also suggests appropriate actions in order to ensure that the pump operates within the allowable design limits. (orig.)

  9. [Will the new molecular karyotyping BACs-on-Beads technique replace the traditional cytogenetic prenatal diagnostics? Preliminary reports].

    Science.gov (United States)

    Piotrowski, Krzysztof; Henkelman, Małgorzata; Zajaczek, Stanisław

    2012-04-01

    Recently several attempts have been made to introduce molecular karyotyping techniques into prenatal diagnosis. These methods can be used not only for the diagnosis of classical aneuploidies, but first of all they should be employed in the diagnostics of microaberrations, which are not revealed by low resolution methods of classical cytogenetics. The new method BACs-on-Beads is designed for quick detection of broad panel of aneuploidies and microdeletions, by the specified detection of deletions and duplications in the examined fetal DNA acquired from amniocytes. Prenatal diagnostics was performed with the use of BACs-on-Beads and classical amniocyte karyotyping simultaneously in a group of 54 pregnancies. This new method proved to be fully compatible with typical karyotyping in cultures of amniocytes in 98.2%. It was confirmed that the main advantage of this method is the possibility of quick diagnosis, within 48 hours, with much wider spectrum of detected anomalies when compared to classical methods. Contrary to other molecular karyotyping methods, the BACs-on-Beads technique is more economical, less time consuming and less complex equipment is needed than in case of other methods. We suppose that this technique can replace classical karyotyping methods in the near future.

  10. SNS Diagnostics Tools for Data Acquisition and Display

    CERN Document Server

    Sundaram, Madhan; Long, Cary D

    2005-01-01

    The Spallation Neutron Source (SNS) accelerator systems will deliver a 1.0 GeV, 1.4 MW proton beam to a liquid mercury target for neutron scattering research. The accelerator complex consists of a 1.0 GeV linear accelerator, an accumulator ring and associated transport lines. The SNS diagnostics platform is PC-based and will run Windows for its OS and LabVIEW as its programming language. The diagnostics platform as well as other control systems and operator consoles use the Channel Access (CA) protocol of the Experimental Physics and Industrial Control System (EPICS) to communicate. This paper describes the tools created to evaluate the diagnostic instrument using our standard programming environment, LabVIEW. The tools are based on the LabVIEW Channel Access library and can run on Windows, Linux, and Mac OS X. The data-acquisition tool uses drop and drag to select process variables organized by instrument, accelerator component, or beam parameters. The data can be viewed on-line and logged to disk for later ...

  11. Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing

    NARCIS (Netherlands)

    Yu, S.C.; Chan, K.C.; Zheng, Y.W.; Jiang, P.; Liao, G.J.; Sun, H; Akolekar, R.; Leung, T.Y.; Go, A.T.; Vugt, J.M.G. van; Minekawa, R.; Oudejans, C.B.; Nicolaides, K.H.; Chiu, R.W.; Lo, Y.M.

    2014-01-01

    Noninvasive prenatal testing using fetal DNA in maternal plasma is an actively researched area. The current generation of tests using massively parallel sequencing is based on counting plasma DNA sequences originating from different genomic regions. In this study, we explored a different approach th

  12. Clinical choice of prenatal diagnostic techniques%产前诊断实验技术的临床选择

    Institute of Scientific and Technical Information of China (English)

    吕时铭

    2015-01-01

    产前诊断技术对出生缺陷的控制至关重要。孕妇外周血生化标志检测的产前筛查、羊水脱落细胞、绒毛、脐血细胞的细胞遗传学分析等技术的成熟应用,荧光原位杂交、核酸体外扩增、基因测序、芯片等分子生物学技术的发展,使产前诊断水平得以大幅提高。高通量基因测序无创产前检测技术的应用迎来了产前诊断技术发展的新阶段。面对不断更新、日益增多的检测项目,需要客观地评估各项技术的优势与局限,才能科学地选择与组合各项技术进行产前诊断,充分发挥各技术在产前诊断中的作用。(中华检验医学杂志,2015,38:505-507)%Prenatal diagnosis is vitally important to control birth defects.The mature application of detecting biochemical markers in maternal serum and cytogenetic karyotype analysis of amniotic fluid cells , villi cells and umbilical cord blood cells , as well as the development of fluorescence in situ hybridization , nucleic acid amplification , gene sequencing , chips and other molecular biological techniques , have significantly improved the standards of prenatal diagnosis.The application of high-throughput sequencing , a non-invasive detection technique , ushers the development of prenatal diagnostic techniques into a new stage.In the face of a growing number of and constantly updated test items , it is necessary to assess the advantages and limitations of various prenatal diagnostic techniques , so as to realize scientific selection and combination, and utilize the techniques to their fullest potential.

  13. Sexually transmitted diseases during pregnancy: screening, diagnostic, and treatment practices among prenatal care providers in Georgia.

    Science.gov (United States)

    Weisbord, J S; Koumans, E H; Toomey, K E; Grayson, C; Markowitz, L E

    2001-01-01

    Sexually transmitted diseases (STD) during pregnancy are associated with adverse outcomes. We conducted a prenatal care provider survey to determine STD screening, diagnosis, and treatment practices. Standard questionnaires were mailed to Georgia-licensed obstetrician/ gynecologists, family practitioners, and nurse-midwives (N = 3,082) in 1998. Of the 1,300 care providers who returned the survey, 565 (44%) provided prenatal care, 390 (57%) were male, and 396 (70%) were obstetrician/ gynecologists. Overall, 553 prenatal care providers (98%) reported screening all pregnant patients for syphilis, 551 (98%) for hepatitis B, 501 (89%) for trichomonas, 474 (84%) for human immunodeficiency virus (HIV), 401 (71%) for gonorrhea, 403 (71%) for chlamydia, 475 (84%) for group B streptococci, and 130 (23%) for bacterial vaginosis (BV) (high risk). Less than 10% used amplification tests for chlamydia or gonorrhea. Most providers used appropriate regimens to treat STD in pregnant women. A written office policy on testing for BV or HIV was associated with increased screening. Provider education is needed about diagnosis and treatment of STD during pregnancy.

  14. Dural sinus malformation (DSM) in fetuses. Diagnostic value of prenatal MRI and follow-up

    Energy Technology Data Exchange (ETDEWEB)

    Merzoug, Valerie; Drissi, Cyrine; Adamsbaum, Catherine [Hopital Saint Vincent de Paul, Service de Radiopediatrie, Paris (France); Flunker, Sabrina; Couture, Alain [Hopital Arnaud de Villeneuve, Service de Radiopediatrie, Montpellier cedex 5 (France); Eurin, Danielle [Hopital Charles Nicolle, Service de Radiopediatrie, Rouen (France); Grange, Gilles [Hopital Cochin, Service de Gyneco-Obstetrique, Maternite Port-Royal, Paris (France); Garel, Catherine [Hopital Armand Trousseau, Service de Radiopediatrie, Paris (France); Richter, Brigitte [Hopital Clemenceau, Service de Radiopediatrie, Caen (France); Geissler, Frederic [Centre Hospitalier Universitaire, Service de Radiopediatrie, Clermont Ferrand (France)

    2008-04-15

    Dural sinus malformations (DSM) are rare malformations mainly reported after birth. The objectives of this study are to describe their prenatal patterns and to focus on their possible favorable outcome. This multicenter retrospective study reported 13 cases of DSM prenatally diagnosed. The admission criterion was a dural mass posterior to the vermis. In 12 patients, MRI was performed after US. Follow-up in 10 born babies (mean: 8 months) and three neuropathological examinations were available. In all fetuses, DSM presented as a well-delimited round mass involving the torcular. The follow-up examinations (n = 10) revealed progressive thrombosis of the DSM marked by a heterogeneous pattern (US and MRI) with concentric rings. The volume of the mass decreased, with complete regression in seven patients (five before and two after birth). One child died at the age of 5 months in the context of major hydrocephalus and another developed atrophy of the frontal lobes. The eight other babies were doing well (5 days to 3 years) without any treatment (n = 6) or following treatment for hydrocephalus (n = 2). Prenatal DSM may have a typical MR pattern, and the prognosis might not be as bad as has previously been reported. In the absence of criterion to predict the hydrovenous cerebral imbalance, it is mandatory to check the parenchyma and the ventricles during the pregnancy. (orig.)

  15. Comparative guide to emerging diagnostic tools for large commercial HVAC systems

    Energy Technology Data Exchange (ETDEWEB)

    Friedman, Hannah; Piette, Mary Ann

    2001-05-01

    This guide compares emerging diagnostic software tools that aid detection and diagnosis of operational problems for large HVAC systems. We have evaluated six tools for use with energy management control system (EMCS) or other monitoring data. The diagnostic tools summarize relevant performance metrics, display plots for manual analysis, and perform automated diagnostic procedures. Our comparative analysis presents nine summary tables with supporting explanatory text and includes sample diagnostic screens for each tool.

  16. The diagnostic path, a useful visualisation tool in virtual microscopy

    Directory of Open Access Journals (Sweden)

    Hufnagl Peter

    2006-11-01

    Full Text Available Abstract Background The Virtual Microscopy based on completely digitalised histological slide. Concerning this digitalisation many new features in mircoscopy can be processed by the computer. New applications are possible or old, well known techniques of image analyses can be adapted for routine use. Aims A so called diagnostic path observes in the way of a professional sees through a histological virtual slide combined with the text information of the dictation process. This feature can be used for image retrieval, quality assurance or for educational purpose. Materials and methods The diagnostic path implements a metadata structure of image information. It stores and processes the different images seen by a pathologist during his "slide viewing" and the obtained image sequence ("observation path". Contemporary, the structural details of the pathology reports were analysed. The results were transferred into an XML structure. Based on this structure, a report editor and a search function were implemented. The report editor compiles the "diagnostic path", which is the connection from the image viewing sequence ("observation path" and the oral report sequence of the findings ("dictation path". The time set ups of speech and image viewing serve for the link between the two sequences. The search tool uses the obtained diagnostic path. It allows the user to search for particular histological hallmarks in pathology reports and in the corresponding images. Results The new algorithm was tested on 50 pathology reports and 74 attached histological images. The creation of a new individual diagnostic path is automatically performed during the routine diagnostic process. The test prototype experienced an insignificant prolongation of the diagnosis procedure (oral case description and stated diagnosis by the pathologist and a fast and reliable retrieval, especially useful for continuous education and quality control of case description and diagnostic work

  17. Procrustes rotation as a diagnostic tool for projection pursuit analysis.

    Science.gov (United States)

    Wentzell, Peter D; Hou, Siyuan; Silva, Carolina Santos; Wicks, Chelsi C; Pimentel, Maria Fernanda

    2015-06-02

    Projection pursuit (PP) is an effective exploratory data analysis tool because it optimizes the projection of high dimensional data using distributional characteristics rather than variance or distance metrics. The recent development of fast and simple PP algorithms based on minimization of kurtosis for clustering data has made this powerful tool more accessible, but under conditions where the sample-to-variable ratio is small, PP fails due to opportunistic overfitting of random correlations to limiting distributional targets. Therefore, some kind of variable compression or data regularization is required in these cases. However, this introduces an additional parameter whose optimization is manually time consuming and subject to bias. The present work describes the use of Procrustes analysis as diagnostic tool that can be used to evaluate the results of PP analysis in an efficient manner. Through Procrustes rotation, the similarity of different PP projections can be examined in an automated fashion with "Procrustes maps" to establish regions of stable projections as a function of the parameter to be optimized. The application of this diagnostic is demonstrated using principal components analysis to compress FTIR spectra from ink samples of ten different brands of pen, and also in conjunction with regularized PP for soybean disease classification. Copyright © 2015 Elsevier B.V. All rights reserved.

  18. Hardware and tool equipment for fluorescence diagnostics and photodynamic therapy

    Directory of Open Access Journals (Sweden)

    V. B. Loschenov

    2013-01-01

    Full Text Available The results of hardware and tool development in photodynamic therapy and fluorescence diagnostics performed by the Natural Research Center, A.M. Prokhorov General Physics Institute, Russian Academy of Sciences in collaboration with several research and medical institutes are presented. Physical and technical aspects of the problem are mentioned. We describe schemes and the principle of operation of devices which we use with our medical colleagues in clinical and experimental studies. Some results of clinical use of the developed devices and methods are presented. 

  19. Photometric entropy of stellar populations and related diagnostic tools

    CERN Document Server

    Buzzoni, A

    2005-01-01

    We discuss, from a statistical point of view, some leading issues that deal with the study of stellar populations in fully or partially unresolved aggregates, like globular clusters and distant galaxies. A confident assessment of the effective number and luminosity of stellar contributors can provide, in this regard, a very useful interpretative tool to properly assess the observational bias coming from crowding conditions or surface brightness fluctuations. These arguments have led us to introduce a new concept of "photometric entropy" of a stellar population, whose impact on different astrophysical aspects of cluster diagnostic has been reviewed here.

  20. Granular filters for water treatment: heterogeneity and diagnostic tools

    DEFF Research Database (Denmark)

    Lopato, Laure Rose

    the last barrier against disinfection resistant protozoan pathogens and this has led to increased regulation of the filtration process. To be able to produce high-quality filtrate in a constant and reliable manner while meeting stricter drinking water guideline values, it is important to be able...... to be able to observe the physical state of the filter. The aim of this PhD study is to contribute to the understanding and optimization of the granular media filtration process. The focus of the work is to develop methodologies and diagnostic tools to analyze the physical state of rapid filters and improve....... Similarly, despite the importance of nitrification in groundwater treatment, the removal of ammonium and the determination of the kinetics of nitrification have been insufficiently researched in full-scale filters. A tool is developed to describe nitrification quantitatively on full-scale filters under real...

  1. A community diagnostic tool for chemistry climate model validation

    Directory of Open Access Journals (Sweden)

    A. Gettelman

    2012-09-01

    Full Text Available This technical note presents an overview of the Chemistry-Climate Model Validation Diagnostic (CCMVal-Diag tool for model evaluation. The CCMVal-Diag tool is a flexible and extensible open source package that facilitates the complex evaluation of global models. Models can be compared to other models, ensemble members (simulations with the same model, and/or many types of observations. The initial construction and application is to coupled chemistry-climate models (CCMs participating in CCMVal, but the evaluation of climate models that submitted output to the Coupled Model Intercomparison Project (CMIP is also possible. The package has been used to assist with analysis of simulations for the 2010 WMO/UNEP Scientific Ozone Assessment and the SPARC Report on the Evaluation of CCMs. The CCMVal-Diag tool is described and examples of how it functions are presented, along with links to detailed descriptions, instructions and source code. The CCMVal-Diag tool supports model development as well as quantifies model changes, both for different versions of individual models and for different generations of community-wide collections of models used in international assessments. The code allows further extensions by different users for different applications and types, e.g. to other components of the Earth system. User modifications are encouraged and easy to perform with minimum coding.

  2. Prenatal diagnostic evaluation of fetal ventricular dilatation by MRI; A report of eight cases

    Energy Technology Data Exchange (ETDEWEB)

    Kawabata, Ichiro; Tamaya, Teruhiko; Iwata, Tatsuo; Ando, Takashi; Yamada, Hiromu (Gifu Univ. (Japan). Faculty of Medicine)

    1992-10-01

    Recent advances in MRI have contributed to the antenatal confirmatory diagnosis of fetal anomalies, especially in the fetal brain and central nervous system. In this study, eight infants with fetal ventricular dilatation, suggested by prenatal ultrasonography, were evaluated with confirmatory diagnosis by MRI (SIGNA; General Electric Company, 1.5 tesla). These anomalies were demonstrated at 19 to 36 weeks by ultrasonography. One of the eight died in utero at 22 weeks of gestation, another one day after birth (33 weeks of gestation). Two were delivered by Cesarean section. It has been proved that clear and effective images can be obtained by mother's walking without sedative drugs. Fetal MRI gave clear images not only in fetal horizontal section, but also in sagittal section, which is usually difficult to obtain by ultrasonography. Confirmatory diagnosis of eight cases were obtained by MRI. Fetal MRI can provide an effective prenatal diagnosis, especially in cases of fetal brain anomaly, even when compared with postnatal CT findings. (author).

  3. Circulating nucleic acids in plasma and serum: applications in diagnostic techniques for noninvasive prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Gahan PB

    2013-04-01

    Full Text Available Peter B Gahan Anatomy and Human Sciences Department, King's College London, London Bridge, London, UK Abstract: The analysis of fetal nucleic acids in maternal blood 13 years ago has led to the initiation of noninvasive methods for the early determination of fetal gender, rhesus D status, and a number of aneuploid disorders and hemoglobinopathies. Subsequently, a comparatively large quantity of fetal DNA and RNA has been demonstrated in amniotic fluid as well as small amounts in premature infant saliva. The DNA and RNA in amniotic fluid has permitted an analysis of core transcriptomes, whilst the DNA and RNA in saliva allows the early detection and treatment monitoring of fetal developmental problems. These aspects are discussed together with the methodology and limits of analysis for noninvasive prenatal diagnosis in predictive, preventive, and personalized medicine. Keywords: fetal circulating DNA/RNA, amniotic fluid, saliva, aneuploidy, thalassemias

  4. MODERN DIAGNOSTIC TOOLS FOR DETECTING HEPATIC FIBROSIS IN CHILDREN

    Directory of Open Access Journals (Sweden)

    A.N. Surkov

    2009-01-01

    Full Text Available The present review highlights the new diagnostic tools for detecting hepatic fibrosis against the backdrop of different liver pathologies in children. They are characterized by a variety of the clinical forms, progressive course along with the fibroid changes in liver and possible result in the liver cirrhosis. The authors considered the modern methods of the needle liver biopsy and noninvasive visualization, as well as justified the necessity to look for the noninvasive markers of the fibroid liver by means of the antibody'mediated diagnostic methods. Such tests are based on identification of various molecular compounds, which are fibrogenesis activators and take part in the formation of the extracellular matrix components. They also described changes of such fibroid liver markers, as hyaluronic acid, collagen type IV, matrix metalloproteinases 2 and 9, tissular inhibitor of the matrix metalloproteinases'1, transforming growth factor–1, which may be recommended for the noninvasive monitoring of the hepatic fibrosis in children.Key words: hepatic fibrosis, antibody'mediated fibrosis markers, children.

  5. Prenatal diagnosis as a tool and support for eugenics: myth or reality in contemporary French society?

    Science.gov (United States)

    Gaille, Marie; Viot, Géraldine

    2013-02-01

    Today, French public debate and bioethics research reflect an ongoing controversy about eugenics. The field of reproductive medicine is often targeted as pre-implantation genetic diagnosis (PGD), prenatal diagnosis, and prenatal detection are accused of drifting towards eugenics or being driven by eugenics considerations. This article aims at understanding why the charge against eugenics came at the forefront of the ethical debate. Above all, it aims at showing that the charge against prenatal diagnosis is groundless. The point of view presented in this article has been elaborated jointly by a geneticist and a philosopher. Besides a survey of the medical, bioethical, philosophical and social sciences literature on the topic, the methodology is founded on a joint analysis of geneticist's various consults. Evidence from office visits demonstrated that prenatal diagnosis leads to case-by-case decisions. As we have suggested, this conclusion does not mean that prenatal diagnosis is devoid of ethical issues, and we have identified at least two. The first is related to the evaluation of a decision to abort. The second line of ethical questions arises from the fact that the claim for "normality" hardly hides normative and ambiguous views about disability. As a conclusion, ethical dilemmas keep being noticeable in the field of reproductive medicine and genetic counselling, but an enquiry about eugenic tendencies probably does not allow us to understand them in the proper way.

  6. [Diagnostic strategy of beta-thalassemic mutation in a Tunisian family, application in prenatal diagnosis].

    Science.gov (United States)

    Khelil, A H; Laradi, S; Ferchichi, S; Carion, N; Béjaoui, M; Saad, A; Chaieb, A; Miled, A; Ben Chibani, J; Perrin, P

    2003-01-01

    At present, the application of combined methods in molecular biology allows us to carry out the prenatal diagnosis in a more rapid and less onerous manner especially when the family presents an index case. In this study, we have analyzed a family with one case of intermediate beta-thalassemia. First, we have used the denaturing gradient gel electrophoresis (DGGE). Then, we have identified the mutations by the refractory mutation system technique (ARMS PCR) using specific primers for the most frequent mutations in the Tunisian population (codon 39 (C --> T) and IVS-I-2 (T--> G) for beta0 thalassemias and IVS-I-110 (G --> A) for beta+ thalassemias). The analyzed family has shown the IVS-I-110 (G --> A) mutation in the heterozygous state in the mother and the index case. Subsequently, sequencing in the gene revealed a frameshift 8 (-AA) mutation in the father and his daughter. This patient is thus a compound heterozygote Codon 8 (-AA)/IVS-I-110. DGGE and ARMS PCR analysis of foetal DNA extracted from trophoblast culture didn't show any of the two mutations found in the family.

  7. NIPTRIC : an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results

    NARCIS (Netherlands)

    Sikkema-Raddatz, Birgit; Johansson, Lennart F; de Boer, Eddy N; Boon, Elles M J; Suijkerbuijk, Ron F; Bouman, Katelijne; Bilardo, Catia M; Swertz, Morris A; Dijkstra, Martijn; van Langen, Irene M; Sinke, Richard J; Te Meerman, Gerard J

    2016-01-01

    To properly interpret the result of a pregnant woman's non-invasive prenatal test (NIPT), her a priori risk must be taken into account in order to obtain her personalised a posteriori risk (PPR), which more accurately expresses her true likelihood of carrying a foetus with trisomy. Our aim was to de

  8. GPCR-targeting nanobodies: attractive research tools, diagnostics, and therapeutics.

    Science.gov (United States)

    Mujić-Delić, Azra; de Wit, Raymond H; Verkaar, Folkert; Smit, Martine J

    2014-05-01

    G-protein-coupled receptors (GPCRs) represent a major therapeutic target class. A large proportion of marketed drugs exert their effect through modulation of GPCR function, and GPCRs have been successfully targeted with small molecules. Yet, the number of small new molecular entities targeting GPCRs that has been approved as therapeutics in the past decade has been limited. With new and improved immunization-related technologies and advances in GPCR purification and expression techniques, antibody-based targeting of GPCRs has gained attention. The serendipitous discovery of a unique class of heavy chain antibodies (hcAbs) in the sera of camelids may provide novel GPCR-directed therapies. Antigen-binding fragments of hcAbs, also referred to as nanobodies, combine the advantages of both small molecules (e.g., molecular cavity binding, low production costs) and monoclonal antibodies (e.g., high affinity and specificity). Nanobodies are gaining ground as therapeutics and are also starting to find application as diagnostics and as high-quality tools in GPCR research. Herein, we review recent advances in the use of nanobodies in GPCR research.

  9. Prenatal Radiation exposures at diagnostic procedures: methods to identify exposed pregnant patients

    Energy Technology Data Exchange (ETDEWEB)

    Pettersson, H.; Sandborg, M.; Nilsson, J.; Olsson, S.; Hellman, S. [Dept of Radiation Physics, Faculty of Health Sciences, Linkoeping University, Linkoeping(Sweden); Helmrot, E. [Radiology Dept, County Hospital Ryhov, Joenkoeping (Sweden); Persliden, J. [Dept of Medical Physics, Oerebro Univ Hospital, Oerebro (Sweden); Cederlund, T. [Swedish Radiation Protection Authority, Stockholm (Sweden)

    2003-06-01

    Knowledge about frequency and doses to embryo/foetus from diagnostic radiology is of great importance both in the sense of estimating the radiation risks but also for optimizing the diagnostic procedures and making decisions regarding alternative procedures. In addition, the pregnant patient has a right to know the magnitude and type of radiation risks expected as a result of foetus exposure. From a risk perspective epidemiological data has shown that the embryo/foetus together with children experience higher radiation sensitivity in terms of induced leukemia and cancer compared to an adult population. Recent estimates give cancer excess lifetime mortality risks for whole body exposures of children and foetus (0-15 y age) of 0.06% up to 0.14% per 10 mSv. In addition to the risk of cancer induction effects of cell killing, e.g. CNS abnormalities, cataracts, malformations, growth retardation, may occur. However, these effects are believed to have a threshold, about 100-200 mGy, and such foetus doses are rarely reached in diagnostic radiology procedures. There are 2 principal situations where foetus exposures may occur in diagnostic radiology; The pregnancy of the patient is known at the time of examination, but due to the medical indications the examination can not be postponed or put forward in time, and there are no suitable alternative non-radiological procedures. The pregnancy of the patient is not known at the time of examination, either due to the fact that the patient is unaware of her pregnancy or the medical personnel failed to obtain this information. The former situation may occur during the first few weeks from conception, whereas the latter situation may cover a greater gestation period. The frequency of foetus exposure is not well documented. In Sweden, there are well-established routines to track down pregnant patients before examinations are being performed. However, there are no general obligations or routines to document the cases either (i) when

  10. The diagnostic and prognostic value of conventional and rapid diagnostic tools in malaria

    Directory of Open Access Journals (Sweden)

    Chandrakanth C.H

    2016-10-01

    Full Text Available Background: The burden of malaria is raising all over the world and India is no exception. Despite well established treatment regimens and diagnostic tools, Malaria is thought to kill between1.1 to 2.7 million people worldwide each year. Rapid diagnosis and early treatment are one of the key factors in controlling the disease burden of malaria. Objective: The study was conducted to investigate the diagnostic and prognostic utility of rapid test (QBC, PLDH, HRP2 with conventional thick and thin films Methods: The present study included clinically suspected cases of malaria referred to Microbiology laboratory at Kempegowda Institute of Medical Sciences, Bangalore during the period from April 2004 to April 2005. Blood samples were collected and were subjected to conventional peripheral smear tests as well as rapid tests by using quantitative buffy coat and Paramax-3 kits. Results: Peripheral smear was 60.78% sensitive to Paramax -3 kit with 59.21% sensitivity for P falciparum and 65.38% for P vivax. Peripheral smear showed more number of false negatives as compared to Paramax-3 kit. QBC is 67.64% (69/102 sensitive to Paramax -3 kit with 60.81% sensitivity for P falciparum and 92.31% for P vivax. Although specificity and sensitivity of QBC higher than peripheral smear, it was not on par with Paramax-3 kit. Conclusion: The QBC method is highly sensitive and specific and provides a reliable, rapid and accurate method for diagnosis of malaria. However, Paramax-3 test was the most sensitive for P falciparum and P vivax.

  11. The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review.

    Science.gov (United States)

    Spinelli, Marialuigia; Sica, Carmine; Dallapiccola, Bruno; Novelli, Antonio; Di Meglio, Letizia; Martinelli, Pasquale

    2015-01-01

    Background. Prenatal diagnosis of Optiz G/BBB syndrome (OS) is challenging because the characteristic clinical features, such as facial and genitourinary anomalies, may be subtle at sonography and rather unspecific. Furthermore, molecular testing of the disease gene is not routinely performed, unless a specific diagnosis is suggested. Method. Both familial and ultrasound data were used to achieve the diagnosis of X-linked OS (XLOS), which was confirmed by molecular testing of MID1 gene (Xp22.3) at birth. Results. Sequencing of MID1 gene disclosed the nucleotide change c.1285 +1 G>T, previously associated with XLOS. Conclusions. This case illustrates current challenges of the prenatal diagnostic work-up of XLOS and exemplifies how clinical investigation, including family history, and accurate US foetal investigations can lead to the correct diagnosis.

  12. The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Marialuigia Spinelli

    2015-01-01

    Full Text Available Background. Prenatal diagnosis of Optiz G/BBB syndrome (OS is challenging because the characteristic clinical features, such as facial and genitourinary anomalies, may be subtle at sonography and rather unspecific. Furthermore, molecular testing of the disease gene is not routinely performed, unless a specific diagnosis is suggested. Method. Both familial and ultrasound data were used to achieve the diagnosis of X-linked OS (XLOS, which was confirmed by molecular testing of MID1 gene (Xp22.3 at birth. Results. Sequencing of MID1 gene disclosed the nucleotide change c.1285 +1 G>T, previously associated with XLOS. Conclusions. This case illustrates current challenges of the prenatal diagnostic work-up of XLOS and exemplifies how clinical investigation, including family history, and accurate US foetal investigations can lead to the correct diagnosis.

  13. Spectroscopy as a diagnostic tool for urban soil contaminants

    Science.gov (United States)

    Brook, Anna; Kopel, Daniella

    2014-05-01

    Urbanization has become one of the major forces of change around the globe. Land use transformation, especially urbanization has the most profound influences of human activities because it affects so many of the planet's physical and biological systems. Land use changes directly impact the ability of the earth to continue to provide ecological services to human society and the other occupants of the ecosystems. The urban process gradually degrades and transforms agricultural and natural ecosystems into built environments. The urban environment includes cities, suburbs, peri-urban areas and towns. Urban ecosystems are highly heterogeneous due to the variety of land covers and land purposes. Thus, the choices on managing the extent and arranging the land cover patches (e.g., lawns) assist to shape the emergent structure and function of the urban ecosystems. As a result of ecological conditions and current management status the urban soils show substantial spatial heterogeneity. Whereas, adverse effects of pollutants on ecosystems have been demonstrated, one important need for environmental impact assessment have been defined as maintenance of long-term monitoring systems, which can enable to improve monitoring, modelling and assessment of various stressors in agriculture environment. Diffuse reflectance spectroscopy and diffuse reflectance Fourier-transform infrared (FTIR) spectroscopy across visible-near- short- mid- and long- wave infrared (0.4-14μm) has the potential to meet this demand. Relationships between spectral reflectance and soil properties, such as grain size distribution, moisture, iron oxides, carbonate content, and organic matter, have already been established in many studies (Krishnan et al. 1980, Ben-Dor and Banin 1995, Jarmer et al. 2008, Richter et al. 2009). The aims of this study are to develop diagnostic tool for heavy metals, polycyclic aromatic hydrocarbons, asbestos and other anthropogenic contaminants in urban soil using spectroscopy

  14. Decision support tools as alternative options to improve diagnostic ...

    African Journals Online (AJOL)

    Mo

    In a bid to improve diagnostic services for endemic bovine diseases in Uganda that are deteriorating as a result of non- functional ... Bovine disease, field diagnosis, veterinary services, Uganda. Introduction ..... Addison-Wesley, Reading,.

  15. Validation Tools and Methods for Diagnostic Systems Project

    Data.gov (United States)

    National Aeronautics and Space Administration — The potential benefits of advanced algorithms for diagnostics and prognostics, inner-loop control, and other flight critical systems have been demonstrated in a...

  16. A Verification and Validation Tool for Diagnostic Systems Project

    Data.gov (United States)

    National Aeronautics and Space Administration — Advanced diagnostic systems have the potential to improve safety, increase availability, and reduce maintenance costs in aerospace vehicle and a variety of other...

  17. Prenatal Genetic Screening Tests

    Science.gov (United States)

    ... cells from the fetus or placenta obtained through amniocentesis or chorionic villus sampling (CVS) . FAQ164 “Prenatal Genetic ... should be followed by a diagnostic test with amniocentesis or CVS. The cell-free DNA screening test ...

  18. Prenatal Diagnosis Procedures and Techniques to Obtain a Diagnostic Fetal Specimen or Tissue: Maternal and Fetal Risks and Benefits.

    Science.gov (United States)

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

    2015-07-01

    Objectif : Offrir aux fournisseurs de soins de maternité et à leurs patientes des lignes directrices factuelles contemporaines en ce qui concerne les services de counseling traitant des risques et des avantages maternels propres à la tenue des interventions diagnostiques prénatales orientées par échographie (et/ou des techniques permettant l’établissement d’un diagnostic génétique) nécessaires dans les cas où il a été établi pendant la période prénatale que la grossesse serait exposée à des risques, ainsi qu’en ce qui concerne la prise de décisions subséquentes quant à la prise en charge de la grossesse (questions abordant des aspects tels que le niveau du fournisseur de soins obstétricaux, la surveillance prénatale, le lieu où devraient se dérouler les soins et l’accouchement, et la décision de poursuivre ou d’interrompre la grossesse). La présente directive clinique se limite aux services de counseling traitant des risques et des avantages maternels, et aux décisions en matière de prise en charge de la grossesse pour les femmes qui nécessitent (ou qui envisagent) la mise en œuvre d’une intervention ou d’une technique effractive orientée par échographie aux fins de l’établissement d’un diagnostic prénatal. Population de patientes : Femmes enceintes identifiées, à la suite de la mise en œuvre de protocoles établis de dépistage prénatal (taux sériques maternels ± imagerie, résultats d’analyse de l’ADN acellulaire indiquant des risques élevés, résultats anormaux au moment de l’imagerie fœtale diagnostique ou antécédents familiaux de troubles héréditaires), comme étant exposées à un risque accru d’anomalie génétique fœtale. Ces femmes pourraient nécessiter ou demander des services de counseling au sujet des risques et des avantages pour la grossesse de la tenue d’une intervention effractive orientée par échographie visant à déterminer l’étiologie, le diagnostic, et/ou la

  19. PRENATAL DIAGNOSIS IN ORGANIC ACIDEMIA

    Directory of Open Access Journals (Sweden)

    Hedieh SANEIFARD

    2012-03-01

    Full Text Available Organic acidemias are the group of metabolic disorders which define by high anion gap metabolic acidosis, hypo or hyperglycemia & hyperammonemia.Because of the severity of disease in children and its fatality in severe form of disease and also need for life long treatment, prenatal diagnosis is an important diagnostic tool.Three approaches to prenatal diagnosis may be possible, including measurement of analytes in amniotic fluid or use of cells obtained by Choronic Villus sampling (CVS or amniocentesis to either assay enzyme activity or extract DNA for molecular genetic testing.Biochemical genetic testing: Prenatal diagnosis for pregnancies at increased risk for propionic acidemia, methylmalonic acidemia, biotin-unresponsive3-methylcrotonyl-CoA carboxylase deficiency, glutaric acidemia type 1, ketothiolase deficiency, methylmalonic aciduria and homocystinuria, cblC type, and isovaleric acidemia is possible by analysis of amniotic fluid if highly accurate quantitative methods are used to measure the appropriate analytes. Amniocentesis is usually performed at approximately 15 to 18 weeks gestation.Prenatal diagnosis for pregnancies at increased risk for MSUD is possible by measurement of enzyme activity in fetal cells obtained by chorionic villous sampling(CVS at approximately ten to 12 weeks gestation or amniocentesis usually performed at approximately 15 to 18 weeks gestation.(If cells from CVS are used, extreme care must be taken to assure that they are fetal rather than maternal cells.Molecular genetic testing:Prenatal diagnosis for pregnancies at increased risk for all disorders is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis usually performed at approximately 15 to 18 weeks of gestation or chorionic villous sampling (CVS at approximately ten to 12 weeks of gestation. Both disease-causing allels of an affected family member must be identified before prenatal testing.Preimplantation genetic diagnosis (PGD

  20. Companion diagnostics-a tool to improve pharmacotherapy.

    Science.gov (United States)

    Jørgensen, Jan Trøst; Hersom, Maria

    2016-12-01

    The variability of pharmacotherapy can be of a significant magnitude, and the main reason for this is often diseases heterogeneity. Patients who have similar diagnoses very often respond differently to the same pharmacological intervention, with great variability in both efficacy and safety outcome. Despite having discussed personalized medicine for more than a decade, we still see that most drug prescriptions for severe chronic diseases are largely based on 'trial and error' and not on solid biomarker data. However, with the advance of molecular diagnostics and a subsequent increased understanding of disease mechanisms, things are slowly changing. Within the last few years, we have seen an increasing number of predictive biomarker assays being developed to guide the use of targeted cancer drugs. This type of assay is called companion diagnostics and is developed in parallel to the drug using the drug-diagnostic co-development model. The development of companion diagnostics is a relatively new discipline and in this review, different aspects will be discussed including clinical and regulatory issues. Furthermore, examples of drugs, such as the ALK and PD-1/PD-L1 inhibitors, that have been approved recently together with a companion or complimentary diagnostic will be given.

  1. Diagnostic, carrier and prenatal genetic testing for fragile X syndrome and other FMR-1-related disorders in Johannesburg, South Africa: a 20-year review.

    Science.gov (United States)

    Essop, Fahmida B; Krause, Amanda

    2013-10-11

    Fragile X syndrome (FXS), the most common inherited cause of intellectual disability (ID) worldwide, is caused by the expansion of a CGG repeat in the fragile X mental retardation gene (FMR-1) gene. OBJECTIVES; To review, retrospectively, the genetic services for FXS and other FMR-1-related disorders - including fragile X-associated tremor/ataxia syndrome (FXTAS) and FMR-1-related primary ovarian insufficiency (POI) - at the Division of Human Genetics, Johannesburg, for diagnostic, carrier and prenatal genetic testing.Methods. The records of 2 690 patients with ID and suspected FXS (ID/?FXS) who had genetic testing for FMR-1 between 1992 and 2012 were reviewed. Of these, 2 239 had diagnostic testing, 430 carrier or cascade testing and 17 prenatal testing for FXS. Four had FXTAS or POI testing. Polymerase chain reaction (PCR) and/or Southern blotting techniques were used to test the patients' samples for FMR-1 and FMR-2 expansions. RESULTS; Of the 2 239 patients who had diagnostic testing, 128 (5.7%) had a full mutation, 12 (0.5%) had a premutation and 43 (1.9%) an intermediate allele. In 17 prenatal tests, eight fetuses tested positive for FXS. FMR-1 CGG repeat distribution analysis in 1 532 males negative for the FMR-1 expansion showed that 29 and 30 CGG repeats were the most common (61.1%), but distribution was significantly different in the black and white populations.CONCLUSION; The findings support the presence of FXS, as the most common cause of ID, in all local populations. The FMR-1 CGG repeat distribution varied from that found in other studies. The number of family members tested was relatively low suggesting that many at-risk individuals are not being referred.

  2. The usage and current approaches of cell free fetal DNA (cffDNA as a prenatal diagnostic method in fetal aneuploidy screening

    Directory of Open Access Journals (Sweden)

    Hülya Erbaba

    2015-12-01

    Full Text Available Prenatal diagnosis of invasive and noninvasive tests can be done in a way (NIPT, but because of the invasive methods have risks of infection and abortion, diagnosing non-invasive procedure increasing day by day. One of the widespread cell free fetal DNA in maternal blood test (cffDNA that is increasing in clinical use has been drawing attention. The incidence of aneuploidy chromosomal anomaly of the kind in which all live births; Trisomy 21 (Down Syndrome 1/800, trisomy 13 (Patau syndrome 1 /10,000, trisomy 18 (Edwards syndrome is a form of 1/6000. Because of the high mortality and morbidity, it is vital that congenital anomalies should be diagnosed in prenatal period. Aneuploidy testing for high-risk pregnant women after the 10th week of pregnancy in terms of the blood sample is taken and free fetal DNA in maternal plasma is based on the measurement of the relative amount. Knowledge of the current criteria for use by healthcare professionals in the field test will allow the exclusion of maternal and fetal risks. In this study, it is aimed to demonstrate current international approaches related to the positive and negative sides of non-invasive that is one of the prenatal diagnostic methods of cffDNA test. J Clin Exp Invest 2015; 6 (4: 414-417

  3. Prenatal Genetic Diagnostic Tests

    Science.gov (United States)

    ... is taken from the placenta. The two main advantages of having CVS over amniocentesis are that 1) ... the development of a person’s physical traits and control of the processes in the ... birth defect that causes intellectual disability, blindness, seizures, and ...

  4. Prototype of a diagnostic decision support tool for structural damage in masonry

    NARCIS (Netherlands)

    De Vent, I.A.E.

    2011-01-01

    This prototype of a diagnostic decision support tool for structural damage in traditional masonry is the result of a PhD research project. The research project has aimed to improve and facilitate the diagnostic process by offering support in the initial phase in which hypotheses are generated. The m

  5. Diagnostics as essential tools for containing antibacterial resistance.

    Science.gov (United States)

    Okeke, Iruka N; Peeling, Rosanna W; Goossens, Herman; Auckenthaler, Raymond; Olmsted, Stuart S; de Lavison, Jean-François; Zimmer, Barbara L; Perkins, Mark D; Nordqvist, Katarina

    2011-04-01

    Antibacterial drugs are overused and often inappropriately selected. This exacerbates drug resistance and exacts a high burden from acute respiratory tract, bloodstream, sexually-transmitted, diarrheal and other infections. Appropriate use of existing diagnostic tests, and developing better ones, could avert these costs and would avoid selective pressure from unnecessary antibacterial use. Product profiles of resistance-averting tests would specify WHO 'ASSURED' (Affordable, Sensitive, Specific, User-friendly, Rapid and Robust, Equipment-free and Deliverable) criteria and request susceptibility as well as etiological information. Advances in genomics, nanoscience, microfluidics and bioengineering, as well as innovative funding paradigms can help to overcome research and development barriers for such diagnostics if they are deliberately and forcefully applied. Rapid uptake of new tests requires timely translation of research on cost-benefit analyses into policy, value-based subsidies and reimbursements, as well as behavioral change of health care providers and users. Copyright © 2011 Elsevier Ltd. All rights reserved.

  6. Saliva-based biosensors: noninvasive monitoring tool for clinical diagnostics.

    Science.gov (United States)

    Malon, Radha S P; Sadir, Sahba; Balakrishnan, Malarvili; Córcoles, Emma P

    2014-01-01

    Saliva is increasingly recognised as an attractive diagnostic fluid. The presence of various disease signalling salivary biomarkers that accurately reflect normal and disease states in humans and the sampling benefits compared to blood sampling are some of the reasons for this recognition. This explains the burgeoning research field in assay developments and technological advancements for the detection of various salivary biomarkers to improve clinical diagnosis, management, and treatment. This paper reviews the significance of salivary biomarkers for clinical diagnosis and therapeutic applications, with focus on the technologies and biosensing platforms that have been reported for screening these biomarkers.

  7. Saliva-Based Biosensors: Noninvasive Monitoring Tool for Clinical Diagnostics

    Directory of Open Access Journals (Sweden)

    Radha S. P. Malon

    2014-01-01

    Full Text Available Saliva is increasingly recognised as an attractive diagnostic fluid. The presence of various disease signalling salivary biomarkers that accurately reflect normal and disease states in humans and the sampling benefits compared to blood sampling are some of the reasons for this recognition. This explains the burgeoning research field in assay developments and technological advancements for the detection of various salivary biomarkers to improve clinical diagnosis, management, and treatment. This paper reviews the significance of salivary biomarkers for clinical diagnosis and therapeutic applications, with focus on the technologies and biosensing platforms that have been reported for screening these biomarkers.

  8. Diagnostic tools for studying divertor detachment: bolometry, spectroscopy, and thermography for surface heat-flux

    Science.gov (United States)

    Terry, J. L.; Reinke, M. L.

    2017-04-01

    Some of the key aspects of divertor detachment that are addressed by bolometry, impurity spectroscopy, hydrogen spectroscopy, and measurements of divertor target heat-flux are reviewed. Measurement requirements for these diagnostic areas are defined, and brief descriptions of the techniques used for these diagnostics are given. Examples from the literature of measurements using these tools applied to detachment are presented. Feedback control of detachment using some of these diagnostics as the ‘sensors’ is reviewed. Challenges and some future directions for these diagnostics in the context of studying divertor detachment are described.

  9. Prenatal Testing: Is It Right for You?

    Science.gov (United States)

    Healthy Lifestyle Pregnancy week by week Prenatal testing, including screening and diagnostic tests, can provide valuable information about your baby's ... 2015 Original article: http://www.mayoclinic.org/healthy-lifestyle/pregnancy-week-by-week/in-depth/prenatal-testing/art- ...

  10. The Development of a Literacy Diagnostic Tool for Maltese Children

    Science.gov (United States)

    Xuereb, Rachael; Grech, Helen; Dodd, Barbara

    2011-01-01

    This article focuses on the development of a Literacy Assessment Battery for the diagnosis of Maltese children with specific learning difficulties. It forms part of a wider research study involving testing of 549 children in Malta as well as standardisation of the tool. Results of the children's performance and psychometric validation go beyond…

  11. Oral Cytology for HIV: A New Diagnostic Tool?

    Science.gov (United States)

    Jagad, Vaibhav Mahesh; Shenoy, Nandita; Ramapuram, John; Lewis, Amitha; Srikant, N; Sarin, Aditi

    2015-01-01

    To asses morphological and morphometrical alterations of oral squamous epithelial cells in HIV infected individuals, and determine its diagnostic significance for HIV infection. Informed Consent was obtained from all study subjects. 40 adult HIV infected patients (experimental group) and 40 adult non-infected volunteers (control group) participated. Age, occupation, and relevant medical history were recorded. The following laboratory tests reports were recorded: complete blood cell counts, blood glucose levels, serum iron and erythrocyte sedimentation rate. Oral smears were collected from normal appearing tongue and buccal mucosa of the individuals by exfoliative cytology. The cells were morphologically analysed and the nuclear area (NA), the cytoplasmic area (CA) and the nucleus-to-cytoplasm area ratio (NA/CA) were calculated. Cell yield, cell cohesion, presence/absence of inflammatory cells and candida were observed. The cytological smears of HIV patients showed abundant cell yield and the epithelial cells were found to be in close cohesive clusters and both findings were found to be statistically significant. Nuclear cytoplasmic ratio was seen to be increased in 93.8% of HIV positive patientsand Mild to moderate pleomorphism was observed in 17.9% of HIV positive patients. HIV positive patients had a diminished inflammatory response and this was found to be statistically significant. Statistically significant deviations from normal oral epithelium were found in the study conducted. With further research, oral exfoliative cytology may form a new, painless, inexpensive diagnostic method for HIV infections. © The Author(s) 2014.

  12. Development of a High-Temperature Diagnostics-While-Drilling Tool

    Energy Technology Data Exchange (ETDEWEB)

    Blankenship, Douglas [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Chavira, David [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Henfling, Joseph [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Hetmaniak, Chris [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Huey, David [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Jacobson, Ron [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); King, Dennis [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Knudsen, Steve [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Mansure, A. J. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Polsky, Yarom [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States)

    2009-01-01

    This report documents work performed in the second phase of the Diagnostics While-Drilling (DWD) project in which a high-temperature (HT) version of the phase 1 low-temperature (LT) proof-of-concept (POC) DWD tool was built and tested. Descriptions of the design, fabrication and field testing of the HT tool are provided.

  13. Psychometric Properties of the Iranian Version of the Premature Ejaculation Diagnostic Tool

    Directory of Open Access Journals (Sweden)

    Amir H. Pakpour, PhD

    2014-04-01

    Conclusion: The results provide evidence for good reliability and validity of the Iranian version of the PEDT. The questionnaire therefore represents a suitable tool for screening PE in Iranian men. Pakpour AH, Yekaninejad MS, Nikoobakht MR, Burri A, and Fridlund B. Psychometric properties of the Iranian version of the Premature Ejaculation Diagnostic Tool. Sex Med 2014;2:31–40.

  14. Coping with worry while waiting for diagnostic results: a qualitative study of the experiences of pregnant couples following a high-risk prenatal screening result.

    Science.gov (United States)

    Lou, Stina; Nielsen, Camilla P; Hvidman, Lone; Petersen, Olav B; Risør, Mette B

    2016-10-21

    It is well documented that pregnant women experience increased worry and uncertainty following a high-risk prenatal screening result. While waiting for diagnostic results this worry continues to linger. It has been suggested that high-risk women put the pregnancy mentally 'on hold' during this period, however, not enough is known about how high-risk women and their partners cope while waiting for diagnostic results. The aim of this study was to identify the strategies employed to cope with worry and uncertainty. Qualitative, semi-structured interviews with 16 high-risk couples who underwent diagnostic testing. The couples were recruited at a university hospital fetal medicine unit in Denmark. Data were analysed using thematic analysis. All couples reported feeling worried and sad upon receiving a high-risk screening result. While waiting for diagnostic results, the couples focused on coming to their own understanding of the situation and employed both social withdrawal and social engagement as strategies to prevent worry from escalating. Additionally, couples used gratitude, reassuring reasoning and selective memory as means to maintain hopes for a good outcome. Discussions about what to do in case of an abnormal test result were notably absent in the accounts of waiting. This bracketing of the potential abnormal result allowed the couples to hold on to a 'normal' pregnancy and to employ an 'innocent-till-proven-guilty' approach to their worries about the fetus's health. None of the interviewed couples regretted having prenatal screening and all of them expected to have prenatal screening in a future pregnancy. The couples in this study did not put the pregnancy mentally 'on hold'. Worry and uncertainty must be understood as managed through a diverse range of practical and emotional strategies that change and overlap in the process of waiting. Clinicians may support appropriate ways of coping with worry and waiting through empathetic and empowering clinical

  15. Nucleic acid aptamers: research tools in disease diagnostics and therapeutics.

    Science.gov (United States)

    Santosh, Baby; Yadava, Pramod K

    2014-01-01

    Aptamers are short sequences of nucleic acid (DNA or RNA) or peptide molecules which adopt a conformation and bind cognate ligands with high affinity and specificity in a manner akin to antibody-antigen interactions. It has been globally acknowledged that aptamers promise a plethora of diagnostic and therapeutic applications. Although use of nucleic acid aptamers as targeted therapeutics or mediators of targeted drug delivery is a relatively new avenue of research, one aptamer-based drug "Macugen" is FDA approved and a series of aptamer-based drugs are in clinical pipelines. The present review discusses the aspects of design, unique properties, applications, and development of different aptamers to aid in cancer diagnosis, prevention, and/or treatment under defined conditions.

  16. Phages of Listeria offer novel tools for diagnostics and biocontrol

    Directory of Open Access Journals (Sweden)

    Martin J Loessner

    2014-04-01

    Full Text Available Historically, bacteriophages infecting their hosts have perhaps been best known and even notorious for being a nuisance in dairy-fermentation processes. However, with the rapid progress in molecular microbiology and microbial ecology, a new dawn has risen for phages. This review will provide an overview on possible uses and applications of Listeria phages, including phage-typing, reporter phage for bacterial diagnostics, and use of phage as biocontrol agents for food safety. The use of phage-encoded enzymes such as endolysins for the detection and as antimicrobial will also be addressed. Desirable properties of candidate phages for biocontrol will be discussed. While emphasizing the enormous future potential for applications, we will also consider some of the intrinsic limitations dictated by both phage and bacterial ecology.

  17. Physicians' use of plasma methylmalonic acid as a diagnostic tool

    DEFF Research Database (Denmark)

    Hvas, A M; Vestergaard, H; Gerdes, Lars Ulrik;

    2000-01-01

    : This lack of response to an increased plasma methylmalonic acid raises an important question. Is the clinical response inadequate, or is the connection between an increased level of plasma methylmalonic acid and signs of clinical significant cobalamin deficiency less clear?......OBJECTIVES: To investigate physicians' reasons for requesting plasma methylmalonic acid and their reactions to an increased concentration of plasma methylmalonic acid. DESIGN: Study of medical records. SETTING: Three somatic district hospitals in Denmark. SUBJECTS: Medical records of 198 patients...... with a plasma methylmalonic acid measurement above the reference interval. Information on diagnostic decisions was available for 177 patients. MAIN OUTCOME MEASURES: Reasons for requesting plasma methylmalonic acid and the reactions to the finding of elevated plasma methylmalonic acid. RESULTS: An explicit...

  18. Photometric entropy of stellar populations and related diagnostic tools

    OpenAIRE

    Buzzoni, Alberto

    2005-01-01

    We discuss, from a statistical point of view, some leading issues that deal with the study of stellar populations in fully or partially unresolved aggregates, like globular clusters and distant galaxies. A confident assessment of the effective number and luminosity of stellar contributors can provide, in this regard, a very useful interpretative tool to properly assess the observational bias coming from crowding conditions or surface brightness fluctuations. These arguments have led us to int...

  19. FNAC AS A DIAGNOSTIC TOOL IN SALIVARY GLAND TUMOURS

    Directory of Open Access Journals (Sweden)

    Kalivarapu

    2016-03-01

    Full Text Available BACKGROUND FNAC of salivary gland tumours is an accurate, simple, rapid, inexpensive, well tolerated and harmless procedure. The success of FNAC depends on the adequacy of sample and high-quality preparation. FNAC of salivary gland neoplasms provides essential information in decision making and management. AIM OF THE STUDY Know the role of fine needle aspiration cytology in the diagnosis of benign and malignant lesions of salivary gland. MATERIAL AND METHODS This was a prospective study done at the tertiary care centre for a period of three years. A total number of 67 cases of clinically suspected salivary gland tumours were subjected to fine needle aspiration cytology and correlated with histopathology. RESULTS A total number of 67 cases, clinically suspected as salivary gland tumours were subjected to FNAC and compared with histopathology. The observations of the study were as follows: Most of the tumours were observed between the age group of 31-40 years. The commonest gland involved was the parotid gland, 56 cases of benign, 10 cases of malignant and one case of inconclusive diagnosis was made on FNAC. In the present study, FNAC showed Sensitivity of 66.6%, Specificity of 98%, Positive predictive value; 90.9%, Negative predictive value; 91%, Percentage of false negative cases 33.3%, Percentage of false positive cases 1.9% and Overall Diagnostic Accuracy of 91%. CONCLUSION FNAC is a very useful, simple, cheap, accurate and repeatable technique in the preoperative diagnosis of various salivary gland neoplasms. Overall, diagnostic accuracy was 91%, in cystic lesions of salivary glands, combined FNAC and histopathology is essential for diagnosis.

  20. Comparison of prenatal diagnostic indications of trisomy 18%18-三体的产前诊断指征比较

    Institute of Scientific and Technical Information of China (English)

    曾艳; 许平; 范佳鸣; 张丽芳

    2012-01-01

    Objective: To evaluate the prenatal diagnostic indications of trisomy 18. Methods; The cases who received prenatal diagnosis in the hospital from 2004 to 2008 were analyzed retrospectively, then they were divided into different groups according to prenatal diagnostic indications; advanced age group (786 patients) , trisomy 18 high risk group (115 patients) , and abnormal ultrasonography group (90 patients) ; 15 cases with trisomy 18 screened out during the period and 2 cases with trisomy 18 found after birth were analyzed. Results; The detection rate of trisomy 18 in abnormal ultrasonography group was the highest (5. 56% ) , the detection rate of trisomy 18 in advanced age group was the lowest (0. 51% ) . Among 17 cases with trisomy 18, 14 cases were found with trisomy 18 of complete type, and 3 cases were found with trisomy 18 of translocation type. Conclusion; The most sensitive indication for prenatal diagnosis of trisomy 18 is still ultrasonography.%目的:对18-三体的产前诊断指征进行评估.方法:对2004 ~ 2008年间产前诊断病人进行回顾性分析,根据产前诊断指征进行分组,其中高龄组786例,18-三体高风险组115例,超声检测异常组90例,并对这期间产前诊断出的15例及出生的2例18-三体进行分析.结果:超声异常组18-三体检出率最高(5.56%),高龄组的检出率最低(0.51%).17例18-三体中完全型18-三体14例,3例易位型.结论:18-三体产前诊断最敏感的指征仍是超声检查.

  1. [Pharmacovigilance center --internal medicine interactions: A useful diagnostic tool].

    Science.gov (United States)

    Rochoy, M; Gautier, S; Bordet, R; Caron, J; Launay, D; Hachulla, E; Hatron, P-Y; Lambert, M

    2015-08-01

    Patients hospitalized in internal medicine often have unexplained clinical symptoms for which a drug origin can be considered. The prevalence of patients hospitalized for iatrogenic is estimated between 4-22%. We wanted to evaluate the diagnostic value of the regional center of pharmacovigilance to identify or confirm an iatrogenic disease in the department of internal medicine of Lille and characterize factors associated with drug-related side effect. This is a single-center prospective diagnostic study. We included all subsequent requests from the department of internal medicine with the Nord-Pas-de-Calais regional pharmacovigilance center between 2010 and 2012. The opinion of the regional pharmacovigilance centre was held on the record of the adverse drug reaction in the national pharmacovigilance database and analyzed according to the conclusion of iatrogenic used by clinicians in internal medicine (reference diagnosis) with a follow-up to June 2013. The variables relating to the patient, medication and adverse events were analyzed by binary logistic regression. We analyzed 160 contacts: 118 concordant cases, 38 false-positives (drug-related side effect retained by the regional pharmacovigilance center only), 4 false negatives. Registration in the national pharmacovigilance database had a sensitivity of 96% (95% CI [0.92 to 0.99]), a specificity of 46% (95% CI [0.38 to 0.53]), a value positive predictive of 69% (95% CI [0.62 to 0.76]), a negative predictive value of 89% (95% CI [0.84 to 0.94]) and a negative likelihood ratio of 0.1. False-positive had chronological and semiological accountabilities questionable (adjusted RR=2.1, 95% CI [1.2 to 2.8]). In our study, the regional pharmacovigilance center confirms the clinician's suspicion of drug-related side effects and helps to exclude drug-induced with a high negative predictive value. Copyright © 2015 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  2. Dogs as a diagnostic tool for ill health in humans.

    Science.gov (United States)

    Wells, Deborah L

    2012-01-01

    Researchers have long reported that dogs and cats improve the physical and psychological health of their human caregivers, and while it is still inconclusive, a substantial amount of research now lends support for the commonly held view that pets are good for us. Recently, studies have directed attention toward exploring the use of animals, most notably dogs, in the detection of disease and other types of health problems in people. This article reviews the evidence for dogs' ability to detect ill health in humans, focusing specifically on the detection of cancer, epileptic seizures, and hypoglycemia. The author describes the research carried out in this area and evaluates it in an effort to determine whether dogs have a role to play in modern health care as an alert tool or screening system for ill health. Where necessary, the author has highlighted weaknesses in the work and proposed directions for future studies.

  3. TRTViewer: the ATLAS TRT detector monitoring and diagnostics tool

    CERN Document Server

    Smirnov, S Yu

    2013-01-01

    The Transition Radiation Tracker (TRT) is the outermost of the three sub-systems of the ATLAS Inner Detector at the LargeHadron Collider (LHC) at CERN. It is designed to combine the drift tube tracker with transition radiation detector, providing an important contribution to the charged particles precise momentum measurement and particle (mainly electron) identification. The TRT consists of a barrel section at small pseudo rapidity (eta) and two separate end-cap partitions at large eta. The detector performance and its operational conditions were permanently monitored during all commissioning and data-taking stages using various software tools, one of which -- TRTViewer -- is described in the present paper. The TRTViewer is the dedicated program for monitoring the TRT raw data quality and detector performance at different hardware levels: individual straws, readout chips and electronic boards. The data analysis results can be presented on the event-by-event basis or in the form of color maps representing the ...

  4. Towards diagnostic tools for analysing Swarm data through model retrievals

    DEFF Research Database (Denmark)

    Kotsiaros, Stavros; Plank, Gernot; Haagmans, R.

    The objective of the Swarm mission is to provide the best ever survey of the geomagnetic field and its temporal dependency, and to gain new insights into improving our knowledge of the Earth’s interior and climate. The Swarm concept consists of a constellation of three satellites in three different...... polar orbits between 300 and 550 km altitude. Goal of the current study is to build tools and to analyze datasets, in order to allow a fast diagnosis of the Swarm system performance in orbit during the commission phase and operations of the spacecraft. The effects on the reconstruction of the magnetic...... field resulting from various error sources are investigated. By using a specially developed software package closed loop simulations are performed aiming at different scenarios. We start from the simple noise-free case and move on to more complex and realistic situations which include attitude errors...

  5. Development of -omics research in Schistosoma spp. and omics-based new diagnostic tools for schistosomiasis

    Directory of Open Access Journals (Sweden)

    Wei eHu

    2014-06-01

    Full Text Available Schistosomiasis, caused by dioecious flatworms in the genus Schistosoma, is torturing people from many developing countries nowadays and frequently leads to severe morbidity and mortality of the patients. Praziquantel (PZQ based chemotherapy and morbidity control for this disease adopted currently necessitate viable and efficient diagnostic technologies. Fortunately, those -omics researches, which rely on high-throughput experimental technologies to produce massive amounts of informative data, have substantially contributed to the exploitation and innovation of diagnostic tools of schistosomiasis. In its first section, this review provides a concise conclusion on the progresses pertaining to schistosomal omics researches to date, followed by a comprehensive section on the diagnostic methods of schistosomiasis, especially those innovative ones based on the detection of antibodies, antigens, nucleic acids, and metabolites with a focus on those achievements inspired by omics researches. Finally, suggestions about the design of future diagnostic tools of schistosomiasis are proposed, in order to better harness those data produced by omics studies.

  6. QUADAS-2: a revised tool for the quality assessment of diagnostic accuracy studies.

    Science.gov (United States)

    Whiting, Penny F; Rutjes, Anne W S; Westwood, Marie E; Mallett, Susan; Deeks, Jonathan J; Reitsma, Johannes B; Leeflang, Mariska M G; Sterne, Jonathan A C; Bossuyt, Patrick M M

    2011-10-18

    In 2003, the QUADAS tool for systematic reviews of diagnostic accuracy studies was developed. Experience, anecdotal reports, and feedback suggested areas for improvement; therefore, QUADAS-2 was developed. This tool comprises 4 domains: patient selection, index test, reference standard, and flow and timing. Each domain is assessed in terms of risk of bias, and the first 3 domains are also assessed in terms of concerns regarding applicability. Signalling questions are included to help judge risk of bias. The QUADAS-2 tool is applied in 4 phases: summarize the review question, tailor the tool and produce review-specific guidance, construct a flow diagram for the primary study, and judge bias and applicability. This tool will allow for more transparent rating of bias and applicability of primary diagnostic accuracy studies.

  7. Lacrimination in Sjogren′s syndrome. Is Schirmer′s test really a useful diagnostic tool?

    Directory of Open Access Journals (Sweden)

    Bhadoria D

    1988-01-01

    Full Text Available In the past, Schinier′s test was used as a diagnostic tool in Sjogren′s Syndrome. In this study, a comparison of 100 normal patients with 2l patients with Sjogren′s Syndrome has been made to study its reliability. It has been concluded that Schimer′s test is of a poor diagnostic value in Sjogren′s Syndrome.

  8. A Quantitative Tool for Producing DNA-Based Diagnostic Arrays

    Energy Technology Data Exchange (ETDEWEB)

    Tom J. Whitaker

    2008-07-11

    The purpose of this project was to develop a precise, quantitative method to analyze oligodeoxynucleotides (ODNs) on an array to enable a systematic approach to quality control issues affecting DNA microarrays. Two types of ODN's were tested; ODN's formed by photolithography and ODN's printed onto microarrays. Initial work in Phase I, performed in conjunction with Affymetrix, Inc. who has a patent on a photolithographic in situ technique for creating DNA arrays, was very promising but did seem to indicate that the atomization process was not complete. Soon after Phase II work was under way, Affymetrix had further developed fluorescent methods and indicated they were no longer interested in our resonance ionization technique. This was communicated to the program manager and it was decided that the project would continue and be focused on printed ODNs. The method being tested is called SIRIS, Sputter-Initiated Resonance Ionization Spectroscopy. SIRIS has been shown to be a highly sensitive, selective, and quantitative tool for atomic species. This project was aimed at determining if an ODN could be labeled in such a way that SIRIS could be used to measure the label and thus provide quantitative measurements of the ODN on an array. One of the largest problems in this study has been developing a method that allows us to know the amount of an ODN on a surface independent of the SIRIS measurement. Even though we could accurately determine the amount of ODN deposited on a surface, the amount that actually attached to the surface is very difficult to measure (hence the need for a quantitative tool). A double-labeling procedure was developed in which 33P and Pt were both used to label ODNs. The radioactive 33P could be measured by a proportional counter that maps the counts in one dimension. This gave a good measurement of the amount of ODN remaining on a surface after immobilization and washing. A second label, Pt, was attached to guanine nucleotides in the

  9. Watershed modeling tools and data for prognostic and diagnostic

    Science.gov (United States)

    Chambel-Leitao, P.; Brito, D.; Neves, R.

    2009-04-01

    When eutrophication is considered an important process to control it can be accomplished reducing nitrogen and phosphorus losses from both point and nonpoint sources and helping to assess the effectiveness of the pollution reduction strategy. HARP-NUT guidelines (Guidelines on Harmonized Quantification and Reporting Procedures for Nutrients) (Borgvang & Selvik, 2000) are presented by OSPAR as the best common quantification and reporting procedures for calculating the reduction of nutrient inputs. In 2000, OSPAR HARP-NUT guidelines on a trial basis. They were intended to serve as a tool for OSPAR Contracting Parties to report, in a harmonized manner, their different commitments, present or future, with regard to nutrients under the OSPAR Convention, in particular the "Strategy to Combat Eutrophication". HARP-NUT Guidelines (Borgvang and Selvik, 2000; Schoumans, 2003) were developed to quantify and report on the individual sources of nitrogen and phosphorus discharges/losses to surface waters (Source Orientated Approach). These results can be compared to nitrogen and phosphorus figures with the total riverine loads measured at downstream monitoring points (Load Orientated Approach), as load reconciliation. Nitrogen and phosphorus retention in river systems represents the connecting link between the "Source Orientated Approach" and the "Load Orientated Approach". Both approaches are necessary for verification purposes and both may be needed for providing the information required for the various commitments. Guidelines 2,3,4,5 are mainly concerned with the sources estimation. They present a set of simple calculations that allow the estimation of the origin of loads. Guideline 6 is a particular case where the application of a model is advised, in order to estimate the sources of nutrients from diffuse sources associated with land use/land cover. The model chosen for this was SWAT (Arnold & Fohrer, 2005) model because it is suggested in the guideline 6 and because it

  10. SNPs ANALYSIS AS A TOOL IN MOLECULAR GENETICS DIAGNOSTICS

    Directory of Open Access Journals (Sweden)

    Dewi Rusnita

    2015-05-01

    arrays is its ability in detecting low level mosaicism which was unidentified by conventional cytogenetic examination. Nowadays, SNP arrays are included in IVF process to obtain a healthy baby. It can be done by detecting the absence or the presence of disease-causing single gene in an embryo before it implanted to the womb. SNP analysis with SNP array has many advantages over other SNP analysis methods and is therefore expected can be widely used in the future in the field of molecular diagnostic.

  11. TRTViewer: the ATLAS TRT detector monitoring and diagnostics tool.

    CERN Document Server

    Smirnov, S Yu; The ATLAS collaboration

    2011-01-01

    The Transition Radiation Tracker (TRT) is the outermost of the three sub-systems of the ATLAS Inner Detector at the Large Hadron Collider (LHC) at CERN. It consists of close to 300000 thin-walled drift tubes (straws), providing on average 30 two-dimensional space points with 130 um resolution for charged particle tracks. Along with continuous tracking, it provides particle identification capability through the detection of transition radiation X-ray photons generated by high velocity particles in the many polymer fibers or films that fill the spaces between the straws, thus enabling the detector to separate electrons from pions over the energy range between 1 and 200 GeV. The TRT performance and its operation conditions have been permanently monitored during all commissioning and data-taking periods using various software tools, one of which - TRTViewer - is described in the present paper. The TRTViewer is the dedicated program for monitoring the TRT raw data quality and detector performance at different hard...

  12. Thoracic ultrasound: A complementary diagnostic tool in cardiology

    Science.gov (United States)

    Trovato, Guglielmo M

    2016-01-01

    Clinical assessment and workup of patients referred to cardiologists may need an extension to chest disease. This requires more in-depth examination of respiratory co-morbidities due to uncertainty or severity of the clinical presentation. The filter and integration of ecg and echocardiographic information, addressing to the clues of right ventricular impairment, pulmonary embolism and pulmonary hypertension, and other less frequent conditions, such as congenital, inherited and systemic disease, usually allow more timely diagnosis and therapeutic choice. The concurrent use of thoracic ultrasound (TUS) is important, because, despite the evidence of the strict links between cardiac and respiratory medicine, heart and chest US imaging approaches are still separated. Actually, available expertise, knowledge, skills and training and equipment’s suitability are not equally fitting for heart or lung examination and not always already accessible in the same room or facility. Echocardiography is useful for study and monitoring of several respiratory conditions and even detection, so that this is nowadays an established functional complementary tool in pulmonary fibrosis and diffuse interstitial disease diagnosis and monitoring. Extending the approach of the cardiologist to lung and pleura will allow the achievement of information on pleural effusion, even minimal, lung consolidation and pneumothorax. Electrocardiography, pulse oximetry and US equipment are the friendly extension of the physical examination, if their use relies on adequate knowledge and training and on appropriate setting of efficient and working machines. Lacking these premises, overshadowing or misleading artefacts may impair the usefulness of TUS as an imaging procedure. PMID:27847557

  13. Spectroscopy as a diagnostic tool for urban soil

    Science.gov (United States)

    Brook, Anna; Kopel, Daniella; Wittenberg, Lea

    2015-04-01

    Anthropogenic urban soil are the foundation of the urban green infrastructure, the green net quality is as good as each of its patches. In early days of pedology urban soil has been recognized with respect to contamination and the risks for human health but in study performed since the 70s, the importance of urban soil for the urban ecology became increasingly significant (Gómez-Baggethun and Barton 2013). Urban soils are highly disturbed land that was created by the process of urbanization. The dominant agent in the creation of urban soils is human activity which modifies the natural soil through mixing, filling or by contamination of land surfaces so as to create a layer of urban soil which can be more than 50 cm thick (Pavao-Zuckerman 2008). The objective of this study is to determine the extent to which field spectroscopy methods can be used to extend the knowledge of urban soils features and components. The majority of the studies on urban soils concentrate on identifying and mapping of pollution mostly heavy metals. In this study a top-down analysis is developed - a simple and intuitive spectral feature for detecting the presence of minerals, organic matter and pollutants in mixed soil samples. The developed method uses spectral activity (SA) detection in a structured hierarchical approach to quickly and, more importantly, correctly identify dominant spectral features. The developed method is adopted by multiple in-production tools including continuum removal normalization, guided by polynomial generalization, and spectral-likelihood algorithms: orthogonal subspace projection (OSP) and iterative spectral mixture analysis (ISMA) were compared to feature likelihood methods (Li et al. 2014). Results of the proposed top-down unmixing method suggest that the analysis is made very fast due to the simplified hierarchy which avoids the high-learning curve associated with unmixing algorithms showed that the most abundant components were coarse organic matter 12

  14. Diagnostic framework and health check tool for engineering and technology projects

    Directory of Open Access Journals (Sweden)

    Simon P Philbin

    2014-10-01

    Full Text Available Purpose: Development of a practitioner oriented diagnostic framework and health check tool to support the robust assessment of engineering and technology projects.Design/methodology/approach: The research is based on a literature review that draws together insights on project assessment and critical success factors to establish an integrated systems view of projects. This is extended to allow a comprehensive diagnostic framework to be developed along with a high-level health check tool that can be readily deployed on projects. The utility of the diagnostic framework and health check tool are explored through three illustrative case studies, with two from Canada and one from the United Kingdom. Findings andOriginality/value: The performance of engineering and technology projects can be viewed through a systems perspective and being a function of six sub-systems that are: process, technology, resources, impact, knowledge and culture. The diagnostic framework that is developed through this research integrates these sub-systems to provide a comprehensive assessment methodology for projects, which is linked to existing best practice for project reviews, performance management and maturity models. The case studies provide managerial insights that are related to the diagnostic framework but crucially also position the approach in the context of industrial applications for construction engineering and technology management.Research limitations/implications: The case study approach includes two case studies from the construction and facilities development sector with the third case study from the research and technology sector. Further work is required to investigate the use of the diagnostic framework and health check tool in other sectors.Practical implications: The health check tool will be of practical benefit to new projects managers that require access to a robust and convenient project review methodology for assessing the status and health of a

  15. Implementing the K-SADS-PL as a standard diagnostic tool: Effects on clinical diagnoses.

    Science.gov (United States)

    Matuschek, Tina; Jaeger, Sonia; Stadelmann, Stephanie; Dölling, Katrin; Grunewald, Madlen; Weis, Steffi; von Klitzing, Kai; Döhnert, Mirko

    2016-02-28

    Diagnostic interviews are valuable tools for generating reliable and valid psychiatric diagnoses. However, little is known about the diagnostic effects of implementing such an interview into the standard diagnostic procedure of a child psychiatric clinic. Therefore, we reviewed discharge diagnoses of psychiatric patients (age: 8-12 years; combined sample of inpatients and day hospital patients) over two intervals before and after implementing the semi-structured diagnostic interview K-SADS-PL as a diagnostic tool during intake. Each interval was a two year period spanning from 2009-2010 (pre sample; n=177) and from 2012-2013 (post sample; n=132). The number of diagnoses per patient and the co-morbidity rate increased significantly in the post sample. Furthermore, the percentage of children with a nonspecific diagnosis "other mixed disorders of conduct and emotions" (ICD-10: F92.8) decreased significantly after using the K-SADS-PL. Regarding the main diagnostic categories, a significant increase in the number of anxiety disorders and stress-related and somatoform disorders was found in the post sample. The results suggest that implementing a semi-structured interview into the daily routine of child psychiatry may have a substantial impact on discharge diagnoses. Practical implications are discussed and ideas for future research are given.

  16. 77 FR 42504 - Prospective Grant of Exclusive License: Development of a Diagnostic Tool for Diagnosing Benign...

    Science.gov (United States)

    2012-07-19

    .... malignant papillary thyroid tumors. Subsequently, a 72 gene model has been developed for diagnosing less common forms of thyroid cancer such as follicular carcinoma. These results provide a molecular... Diagnostic Tool for Diagnosing Benign Versus Malignant Thyroid Lesions AGENCY: National Institutes of...

  17. [Plasma copeptin--a multi-purpose diagnostic tool for clinicians?].

    Science.gov (United States)

    Koistinen, Heikki

    2012-01-01

    Measurement of antidiuretic hormone (ADH) is utilized in the diagnosis of hyponatremia and polyuria. However, determination of ADH is slow, and results may be unreliable. Copeptin is a glycopeptide of 39 amino acid residues that is cleaved from a precursor of ADH and secreted to the circulation in an equimolar manner with ADH. Determination of the copeptin level is quick and reliable, and improves the diagnostics of osmotic disorders. Copeptin seems to be a promising diagnostic tool also in acute coronary syndrome and may have prognostic significance in cardiac insufficiency, stroke or septicaemia, too.

  18. 高龄孕妇产前筛查与诊断分析%Prenatal diagnostic testing among women referred for advanced maternal age

    Institute of Scientific and Technical Information of China (English)

    李东明; 黄海锋; 陶春凤

    2016-01-01

    Objective:To investigate the incidence of aneuploidies of chromosomal in pregnant women with advanced maternal age (AMA) as indicator for invasive diagnostic testing.Methods:The results of prenatal diagnosis and clinical data were collected retrospectively,according to the indicator for invasive diagnostic testing.Results:Among the 8771 cases,188 cases (2.14%) of a fetal with aneuploidies of chromosomal were diagnosed,which are trisomy 21 (111 cases),trisomy 18 (27 cases),47,XXY (15 cases),45,X (13 cases),47,XXX (11 cases),trisomy 13 (10 cases),47,XYY (1 case).The detective rate of fetal with aneuploidies of chromosomal was higher in noninvasive prenatal testing (91.677%),followed by Abnormal serum screening and ultrasound findings group (7.01%),abnormal ultrasonic findings group (6.57%),Abnormal serum screening group (1.60%).Conclusion:The incidence of aneuploidies of chromosomal in pregnant women with AMA was high.The incidence was higher in pregnancy with multiple abnormal screening indexes.%目的 了解不同产前诊断指征高龄孕妇的胎儿染色体非整倍体检出情况.方法 回顾分析高龄孕妇产前诊断结果及其临床资料,分析不同指征孕妇胎儿非整倍体发生率.结果 8771例子高龄孕妇中,检出胎儿染色体非整倍体188例(2.14%),其中21三体最多为111例,依次为18三体27例,47,XXY 15例,45,X 13例,47,XXX 11例,13三体10例,47,XYY 1例.无创产前筛查阳性检出率最高为91.67%,其次为血清学筛查高风险+超声异常发现(7.10%)、超声异常发现(6.57%)和血清学筛查高风险(1.60%).结论 高龄妊娠胎儿染色体非整倍体发生率高于一般人群,妊娠合并多项筛查指标异常时,胎儿染色体非整倍体发生的风险增加.

  19. MALDI TOF imaging mass spectrometry in clinical pathology: a valuable tool for cancer diagnostics (review).

    Science.gov (United States)

    Kriegsmann, Jörg; Kriegsmann, Mark; Casadonte, Rita

    2015-03-01

    Matrix-assisted laser desorption/ionization (MALDI) time-of-flight (TOF) imaging mass spectrometry (IMS) is an evolving technique in cancer diagnostics and combines the advantages of mass spectrometry (proteomics), detection of numerous molecules, and spatial resolution in histological tissue sections and cytological preparations. This method allows the detection of proteins, peptides, lipids, carbohydrates or glycoconjugates and small molecules.Formalin-fixed paraffin-embedded tissue can also be investigated by IMS, thus, this method seems to be an ideal tool for cancer diagnostics and biomarker discovery. It may add information to the identification of tumor margins and tumor heterogeneity. The technique allows tumor typing, especially identification of the tumor of origin in metastatic tissue, as well as grading and may provide prognostic information. IMS is a valuable method for the identification of biomarkers and can complement histology, immunohistology and molecular pathology in various fields of histopathological diagnostics, especially with regard to identification and grading of tumors.

  20. Invasive prenatal diagnostic procedures in twin gestations%介入性产前诊断技术在双胎妊娠中的应用

    Institute of Scientific and Technical Information of China (English)

    韩振艳; 方群; 罗艳敏; 陈宝江; 陈敏玲; 陈健生; 陈筠虹; 陈涌珍

    2011-01-01

    Objective To evaluate the effectiveness and safety of invasive procedures of prenatal diagnosis for twin gestations through analysing the results and outcomes of twins.Methods Invasive prenatal diagnostic procedures guided by ultrasound were introduced to 164 twin pregnancies with various indications,including 111 amniocentesis,and 53 cordocentesis.The results of prenatal diagnosis,complications and outcomes of these twins were analyzed with Chi-square test or Fisher's exact test.Results (1) Chromosome was examined in 261 fetuses and 6.13% (16/261)had abnormal karyotypes.(2) Comparing amniocentesis with cordocentesis,the fetal loss rate within two weeks after the procedure were 0.00% (0/191) and 3.85% (3/78),respectively (P=0.024).The total fetal loss rate and preterm delivery rates in amniocentesis and cordocentesis group were 3.87% (6/155) and 5.45% (3/55),51.22% (42/82)and 38.71% (12/31),respectively (P=0.235and 0.618).(3) Selective feticide was performed on 18 cases after prenatal diagnosis.Fifteen cases had survival neonates,two cases suffered from spontaneous abortion,and two cases had preterm labor with neonatal death.Conclusions (1) Invasive prenatal diagnostic procedures are effective and feasible in twins.Amniocentesis is a relative safer and simpler alternative to cordocentesis,which demanding higher skill and carrying higher fetal loss rate.(2) Mid-trimester selective feticide after prenatal diagnosis appears safety.Before the procedure,the chorionicity and fetal condition should be considered,in order to choose suitable feticide procedures.%目的 通过分析双胎妊娠产前诊断结果 及妊娠结局,探讨双胎介入性产前诊断技术的有效性及安全性.方法 超声介导下对有各种产前诊断指征的164例双胎妊娠行介入性产前诊断操作,包括羊膜腔穿刺(简称羊穿)111例、脐带穿刺(简称脐穿)53例,分析产前诊断结果,追踪术后并发症及妊娠结局.率的比较采用x2

  1. A survey of diagnostic ultrasound within the physiotherapy profession for the design of future training tools

    Energy Technology Data Exchange (ETDEWEB)

    McKiernan, Sharmaine, E-mail: sharmaine.mckiernan@newcastle.edu.a [School of Health Sciences, University of Newcastle, Callaghan, NSW (Australia); Chiarelli, Pauline; Warren-Forward, Helen [School of Health Sciences, University of Newcastle, Callaghan, NSW (Australia)

    2011-05-15

    The expansion of diagnostic ultrasound outside of the traditional radiology profession into the physiotherapy profession is occurring. The purpose of this study was to determine if physiotherapists are purchasing diagnostic ultrasound machines, receiving training in the modality and what imaging procedures they are performing. For the design of future training tools, also investigated were the methods of training that physiotherapists might find most beneficial and what content they deem necessary to be covered during such training for the use of diagnostic ultrasound for their profession. An e-mail invitation was sent to physiotherapists throughout Australian who were registered on two databases, asking them to complete a web based survey. The survey was comprised of 18 questions including open and closed items. The data was then categorised into themes in accordance with the purpose of the study. Of the respondents, 39% did not own a diagnostic ultrasound machine, 33% had access to a machine that was owned by their employer and 18% actually owned a machine themselves. Training in diagnostic ultrasound had been received by 61% of the respondents however for 67% of those who had been trained, this training had only lasted for several hours, not days or weeks. For future training in ultrasound the majority of respondents would prefer either a workshop or DVD to cover imaging anatomy, the use of machine controls and scanning the pelvic floor, abdominal muscles and shoulder. From this survey it can be concluded that physiotherapists have an interest in or are using diagnostic ultrasound in their practice. While some form of training is being provided, further training is considered necessary and wanted by the physiotherapists so training tools need to be developed.

  2. The H$\\alpha$ surface brightness $-$ radius plane as a diagnostic tool for photoionized nebulae

    CERN Document Server

    Frew, David J; Parker, Quentin A

    2016-01-01

    The H$\\alpha$ surface brightness $-$ radius ($S-r$) relation is a robust distance indicator for planetary nebulae (PNe), further enhanced by different populations of PNe having distinct loci in $S-r$ space. Other types of photoionized nebulae also plot in quite distinct regions in the $S-r$ plane, allowing its use as a diagnostic tool. In particular, the nova shells and massive star ejecta (MSE) plot on relatively tight loci illustrating their evolutionary sequences. For the MSE, there is potential to develop a distance indicator for these objects, based on their trend in $S-r$ space. As high-resolution, narrowband surveys of the nearest galaxies become more commonplace, the $S-r$ plane is a potentially useful diagnostic tool to help identify the various ionized nebulae in these systems.

  3. Feasibility of streamlining an interactive Bayesian-based diagnostic support tool designed for clinical practice

    Science.gov (United States)

    Chen, Po-Hao; Botzolakis, Emmanuel; Mohan, Suyash; Bryan, R. N.; Cook, Tessa

    2016-03-01

    In radiology, diagnostic errors occur either through the failure of detection or incorrect interpretation. Errors are estimated to occur in 30-35% of all exams and contribute to 40-54% of medical malpractice litigations. In this work, we focus on reducing incorrect interpretation of known imaging features. Existing literature categorizes cognitive bias leading a radiologist to an incorrect diagnosis despite having correctly recognized the abnormal imaging features: anchoring bias, framing effect, availability bias, and premature closure. Computational methods make a unique contribution, as they do not exhibit the same cognitive biases as a human. Bayesian networks formalize the diagnostic process. They modify pre-test diagnostic probabilities using clinical and imaging features, arriving at a post-test probability for each possible diagnosis. To translate Bayesian networks to clinical practice, we implemented an entirely web-based open-source software tool. In this tool, the radiologist first selects a network of choice (e.g. basal ganglia). Then, large, clearly labeled buttons displaying salient imaging features are displayed on the screen serving both as a checklist and for input. As the radiologist inputs the value of an extracted imaging feature, the conditional probabilities of each possible diagnosis are updated. The software presents its level of diagnostic discrimination using a Pareto distribution chart, updated with each additional imaging feature. Active collaboration with the clinical radiologist is a feasible approach to software design and leads to design decisions closely coupling the complex mathematics of conditional probability in Bayesian networks with practice.

  4. Remifentanil-induced spike activity as a diagnostic tool in epilepsy surgery

    DEFF Research Database (Denmark)

    Gronlykke, L.; Knudsen, M.L.; Hogenhaven, H.;

    2008-01-01

    OBJECTIVES: To assess the value of remifentanil in intraoperative evaluation of spike activity in patients undergoing surgery for mesial temporal lobe epilepsy (MTLE). MATERIALS AND METHODS: Twenty-five patients undergoing temporal lobectomy for medically intractable MTLE were enrolled in the study...... activity in the epileptogenic zone and reveal otherwise concealed epileptogenic tissue in patients with MTLE. Thus, remifentanil may prove to be an important diagnostic tool during surgical treatment for intractable focal epilepsy Udgivelsesdato: 2008/2...

  5. Acute cardiac arrhythmias following surgery for congenital heart disease: mechanisms, diagnostic tools, and management.

    Science.gov (United States)

    Payne, Linda; Zeigler, Vicki L; Gillette, Paul C

    2011-06-01

    This article focuses on the management of those cardiac arrhythmias most commonly seen in the immediate postoperative period. They include ventricular tachycardia, ventricular fibrillation, atrial flutter, junctional ectopic tachycardia, bradycardia, and atrioventricular block. The mechanisms of cardiac arrhythmias are reviewed followed by a brief overview of the predominant acute arrhythmias, tools used for the diagnostic evaluation of these arrhythmias, management strategies, and, finally, nursing considerations.

  6. Population synthesis at short wavelengths and spectrophotometric diagnostic tools for galaxy evolution

    CERN Document Server

    Buzzoni, A; Chavez, M; Rodríguez-Merino, L H

    2007-01-01

    Taking advantage of recent important advances in the calculation of high-resolution spectral grids of stellar atmospheres at short wavelengths, and their implementation for population synthesis models, we briefly review here some special properties of ultraviolet emission in SSPs, and discuss their potential applications for identifying and tuning up effective diagnostic tools to probe distinctive evolutionary properties of early-type galaxies and other evolved stellar systems.

  7. Population Synthesis at Short Wavelengths and Spectrophotometric Diagnostic Tools for Galaxy Evolution

    Science.gov (United States)

    Buzzoni, A.; Bertone, E.; Chávez, M.; Rodríguez-Merino, L. H.

    2009-03-01

    Taking advantage of recent important advances in the calculation of high-resolution spectral grids of stellar atmospheres at short wavelengths, and their implementation for population synthesis models, we briefly review here some special properties of ultraviolet emission in SSPs, and discuss their potential applications for identifying and tuning up effective diagnostic tools to probe distinctive evolutionary properties of early-type galaxies and other evolved stellar systems.

  8. Teaching prenatal ultrasound to family medicine residents.

    Science.gov (United States)

    Dresang, Lee T; Rodney, William MacMillan; Dees, Jason

    2004-02-01

    Prenatal ultrasound is a powerful diagnostic tool, but there has been little research on how to teach ultrasound to family physicians. The available evidence supports teaching through didactics followed by supervised scanning. Didactic topics include physics and machine usage, indications, fetal biometry, anatomic survey, practice management, ethical issues, and resources. Supervised scanning reinforces the didactic components of training. A "hand-on-hand" supervised scanning technique is recommended for the transmission of psychomotor skills in these sessions. Curricula for teaching ultrasound should include information on which residents will be taught prenatal ultrasound, who will teach them, how to create time for learning ultrasound skills, and how to test for competency. The literature suggests that competency can be achieved within 25-50 supervised scans. Measures of competency include examination and qualitative analysis of scanning. Competency-based testing needs further development because no uniform standards have been established.

  9. Prenatal parenting.

    Science.gov (United States)

    Glover, Vivette; Capron, Lauren

    2017-06-01

    Parenting begins before birth. This includes prenatal maternal and paternal bonding with the baby, and biological effects on fetal development. Recent research has confirmed how prenatal maternal stress can alter the development of the fetus and the child, and that this can persist until early adulthood. Children are affected in different ways depending, in part, on their own genetic makeup. The fetus may also have a direct effect on prenatal maternal mood and later parenting behaviour via the placenta. The father is important prenatally too. An abusive partner can increase the mother's prenatal stress and alter fetal development, but he can also be an important source of emotional support. New research suggests the potential benefits of prenatal interventions, including viewing of prenatal scans and cognitive behavioural therapy. Copyright © 2017 Elsevier Ltd. All rights reserved.

  10. Validation of three early ejaculation diagnostic tools: a composite measure is accurate and more adequate for diagnosis by updated diagnostic criteria.

    Directory of Open Access Journals (Sweden)

    Patrick Jern

    Full Text Available PURPOSE: To validate three early ejaculation diagnostic tools, and propose a new tool for diagnosis in line with proposed changes to diagnostic criteria. Significant changes to diagnostic criteria are expected in the near future. Available screening tools do not necessarily reflect proposed changes. MATERIALS AND METHODS: Data from 148 diagnosed early ejaculation patients (M age = 42.8 and 892 controls (M age = 33.1 years from a population-based sample were used. Participants responded to three different questionnaires (Premature Ejaculation Profile; Premature Ejaculation Diagnostic Tool; Multiple Indicators of Premature Ejaculation. Stopwatch measured ejaculation latency times were collected from a subsample of early ejaculation patients. We used two types of responses to the questionnaires depending on the treatment status of the patients 1 responses regarding the situation before starting pharmacological treatment and 2 responses regarding current situation. Logistic regressions and Receiver Operating Characteristics were used to assess ability of both the instruments and individual items to differentiate between patients and controls. RESULTS: All instruments had very good precision (Areas under the Curve ranging from .93-.98. A new five-item instrument (named CHecklist for Early Ejaculation Symptoms - CHEES consisting of high-performance variables selected from the three instruments had validity (Nagelkerke R (2 range .51-.79 for backwards/forwards logistic regression equal to or slightly better than any individual instrument (i.e., had slightly higher validity statistics, but these differences did not achieve statistical significance. Importantly, however, this instrument was more in line with proposed changes to diagnostic criteria. CONCLUSIONS: All three screening tools had good validity. A new 5-item diagnostic tool (CHEES based on the three instruments had equal or somewhat more favorable validity statistics compared to the other three

  11. Systematic review and meta-analysis of persistent left superior vena cava on prenatal ultrasound: associated anomalies, diagnostic accuracy and postnatal outcome.

    Science.gov (United States)

    Gustapane, S; Leombroni, M; Khalil, A; Giacci, F; Marrone, L; Bascietto, F; Rizzo, G; Acharya, G; Liberati, M; D'Antonio, F

    2016-12-01

    To quantify the prevalence of chromosomal anomalies in fetuses with persistent left superior vena cava (PLSVC), assess the strength of the association between PLSVC and coarctation of the aorta and ascertain the diagnostic accuracy of antenatal ultrasound in correctly identifying isolated cases of PLSVC. MEDLINE, EMBASE, CINHAL and the Cochrane databases were searched from the year 2000 onwards using combinations of keywords 'left superior vena cava' and 'outcome'. Two authors reviewed all abstracts independently. Quality assessment of the included studies was performed using the Newcastle-Ottawa Scale for cohort studies. The rates of the following outcomes were analyzed: chromosomal abnormalities; associated intracardiac anomalies (ICAs) and extracardiac anomalies (ECAs) diagnosed prenatally; additional ICAs and ECAs detected only at postnatal imaging or clinical evaluation but missed at prenatal imaging; and association of PLSVC and coarctation of the aorta. Meta-analyses of proportions were used to combine data. In total, 2708 articles were identified and 13 (n = 501) were included in the systematic review. Associated ICAs and ECAs were detected at the prenatal ultrasound examination or at a follow-up assessment in 60.7% (95% CI, 44.2-75.9%) and 37.8% (95% CI, 31.0-44.8%) of cases, respectively. Chromosomal anomalies occurred in 12.5% (95% CI, 9.0-16.4%) of cases in the overall population of fetuses with PLSVC and in 7.0% (95% CI, 2.7-13.0%) of isolated cases. Additional ICAs and ECAs were detected only after birth and missed at ultrasound in 2.4% (95% CI, 0.5-5.8%) and 6.7% (95% CI, 2.2-13.2%) of cases, respectively. Coarctation of the aorta was associated with isolated PLSVC in 21.3% (95% CI, 13.6-30.3%) of cases. PLSVC is commonly associated with ICAs, ECAs and chromosomal anomalies. Fetuses with isolated PLSVC should be followed up throughout pregnancy in order to rule out coarctation of the aorta. As most of the data in this review were derived from

  12. MODIFIED ALVARADO SCORING AS A DIAGNOSTIC TOOL IN ACUTE APPENDICITIS- A PROSPECTIVE STUDY

    Directory of Open Access Journals (Sweden)

    V. K. Arun Kumar

    2017-02-01

    Full Text Available BACKGROUND Acute Appendicitis commonest community-acquired intra-abdominal infections. Acute appendicitis and its associated complications are significant source of morbidity and sometimes mortality. The Modified Alvarado Scoring System (MASS has been reported to be a cheap and quick diagnostic tool in patients with acute appendicitis. Diagnostic accuracy have been observed if the scores were applied to various populations and clinical settings. The purpose of this study was to evaluate the diagnostic value of Modified Alvarado Scoring System in patients with acute appendicitis in our setting. The aim of the study is to evaluate the efficacy of the modified Alvarado score as a diagnostic tool in Acute Appendicitis, as the diagnosis of appendicitis depends on the onset of symptoms and the subjective interpretation of the physical examination. MATERIALS AND METHODS This was a prospective study carried out in Pondicherry Institute of Medical Science during the period of November 2013 to May 2015. This study was done on 50 patients diagnosed with Acute Appendicitis and admitted in General Surgery. RESULTS In this study, there were a total of 50 patients who were taken up for surgery based on clinical and radiological diagnosis. Our study demonstrates that modified Alvarado score applied to all adult patients of acute appendicitis in adults with a sensitivity of 60% and a specificity of 40% only. Showing it wasn’t efficient in diagnosing acute appendicitis. The positive predictive value shown by our study was 80% which is marginally lower than that explained in literature which reports 87.5%. Negative appendicectomy rate in this study is 12%. CONCLUSION Alvarado score is a non-invasive, safe diagnostic procedure, which is simple, fast reliable and repeatable; it can be used in all conditions, without expensive and complicated supportive diagnostic methods. Alvarado score increases the diagnostic certainty of clinical examination in diagnosis of

  13. Doing diagnosis: whether and how clinicians use a diagnostic tool of uncertain clinical utility.

    Science.gov (United States)

    Armstrong, Natalie; Hilton, Paul

    2014-11-01

    Diagnosis is fundamental to the practice of medicine and mastery of it is central to the process of both becoming and practicing as a doctor. We focus on diagnosis as a process, in particular from the perspective of clinicians performing it. We explore how UK clinicians exercise discretion about whether and how to use a diagnostic tool (invasive urodynamic tests - IUT) for which there is, currently, no clear, high-quality evidence. Interviews were conducted with a purposive sample of 18 clinicians who had previously completed a survey on their use of IUT. Analysis was based on the constant comparative method. Participants tended to be polarised in their view of IUT. While many regarded it as a valuable diagnostic tool that they used frequently and thought was important, others reported using it only infrequently, and some were sceptical of its value in the diagnostic process even if they commonly used it. In addition to the anticipated clinical functions (e.g. adding to understanding of the condition, helping determine best treatment) there were additional, more social, functions that IUT could serve, including fitting in with local practice and helping to defend against possible future litigation. We discern two distinct approaches to the practice of diagnosis: one approach means 'leaving no stone unturned' and seeking all available evidence, proven or otherwise; while a second means using clinical judgement to say 'enough is enough' and thereby avoid exposing patients to possibly unnecessary tests and potentially wasting scarce healthcare resources.

  14. Saliva as a non-invasive diagnostic tool for inflammation and insulin-resistance

    Institute of Scientific and Technical Information of China (English)

    Gauri; S; Desai; Suresh; T; Mathews

    2014-01-01

    Saliva has been progressively studied as a non-invasive and relatively stress-free diagnostic alternative to blood. Currently, saliva testing is used for clinical assessment of hormonal perturbations, detection of HIV antibodies, DNA analysis, alcohol screening, and drug testing. Recently, there has been increasing interest in evaluating the diagnostic potential of saliva in obesity, inflammation, and insulin-resistance. Current literature has demonstrated elevated levels of inflammatory biomarkers including C-reactive protein, tumor necrosis factor-α, interleukin-6, and interferon-γ in saliva of obese/overweight children and adults. Salivary antioxidant status has also been studied as a measure of oxidative stress in individuals with type 2 diabetes. Further, several studies have demonstrated correlations of salivary markers of stress and insulin resistance including cortisol, insulin, adiponectin, and resistin with serum concentrations. These findings suggest the potential diagnostic value of saliva in health screening and risk stratification studies, particularly in the pediatric population, with implications for inflammatory, metabolic and cardiovascular conditions. However, additionalstudies are required to standardize saliva collection and storage procedures, validate analytical techniques for biomarker detection, and establish reference ranges for routine clinical use. The purpose of this review is to summarize and evaluate recent advancements in using saliva as a diagnostic tool for inflammation and insulinresistance.

  15. Addiction screening and diagnostic tools: 'Refuting' and 'unmasking' claims to legitimacy.

    Science.gov (United States)

    Dwyer, Robyn; Fraser, Suzanne

    2015-12-01

    Human practices of all kinds - substance use, gambling, sex, even eating - are increasingly being reframed through the language of addiction. This 'addicting' of contemporary society is achieved, in part, through the screening and diagnostic tools intended to identify and measure addiction. These tools are a key element in the expert knowledge-making through which realities of addiction emerge. Promoted as objective and accurate, the tools are given legitimacy through application of scientific validation techniques. In this article, we critically examine the operations of these validation techniques as applied to substance addiction tools. Framed by feminist and other scholarship that decentres the epistemological guarantees of objectivity and validity, we structure our analysis using Ian Hacking's (1999) concepts of 'refuting' (showing a thesis to be false) and 'unmasking' (undermining a thesis). Under 'refuting', we consider the methodological validation processes on their own terms, identifying contradictory claims, weak findings and inconsistent application of methodological standards. Under 'unmasking', we critically analyse validation as a concept in itself. Here we identify two fundamental problems: symptom learning and feedback effects; and circularity and assumptions of independence and objectivity. Our analysis also highlights the extra-theoretical functions and effects of the tools. Both on their own terms and when subjected to more searching analysis, then, the validity claims the tools make fail to hold up to scrutiny. In concluding, we consider some of the effects of the processes we identify. Not only do these tools make certainty where there is none, we contend, they actively participate in the creation of social objects and social groups, and in shaping affected individuals and their opportunities. In unpacking in detail the legitimacy of the tools, our aim is to open up for further scrutiny the processes by which they go about making (rather than

  16. The Resolution Integral – a tool for characterising the performance of diagnostic ultrasound scanners

    Science.gov (United States)

    Inglis, Scott; Pye, Stephen D

    2014-01-01

    In this paper, we describe how the resolution integral can be used as a tool for characterising the grey-scale imaging of diagnostic ultrasound scanners. The definitions of resolution integral, characteristic resolution and depth of field are discussed in relation to grey-scale imaging performance, together with a method of measuring these parameters using the Edinburgh Pipe Phantom. We show how the characteristic resolution and depth of field can be used to quantify the differences between transducers designed for different applications and how they are useful in identifying and quantifying changes in the performance of individual transducers. PMID:27433191

  17. Maternal plasma levels of cell-free β-HCG mRNA as a prenatal diagnostic indicator of placenta accrete.

    Science.gov (United States)

    Zhou, J; Li, J; Yan, P; Ye, Y H; Peng, W; Wang, S; Wang, X Tong

    2014-09-01

    Several biomarkers, including maternal serum creatinine kinase and α-fetoprotein, have been described as potential tools for the diagnosis of placental abnormalities. This study aimed to determine whether maternal plasma mRNA levels of the β subunit of human chorionic gonadotropin (β-HCG) could predict placenta accreta prenatally. Sixty-eight singleton pregnant women with prior cesarean deliveries (CDs) were classified into three groups: normal placentation (35 women, control group); placenta previa alone (21 women, placenta previa group); and both placenta previa and placenta accreta (12 women, placenta previa/accreta group). Maternal plasma concentrations of cell-free β-HCG mRNA were measured by real-time reverse-transcription polymerase chain reaction and were expressed as multiples of the median (MoM). Cell-free β-HCG mRNA concentrations (MoM, range) were significantly higher in women with placenta accreta (3.65, 2.78-7.19) than in women with placenta previa (0.94, 0.00-2.97) or normal placentation (1.00, 0.00-2.69) (Steel-Dwass test, P placenta previa/accreta group, the concentration of cell-free β-HCG mRNA was significantly higher among women who underwent CDs with hysterectomy (4.41, 3.49-7.19) than among women whose CDs did not result in hysterectomy (3.20, 2.78-3.70) (Mann-Whitney U test, P = 0.012). An increased level of cell-free β-HCG mRNA in the maternal plasma of women with placenta accreta may arise from direct uteroplacental transfer of cell-free placental mRNA molecules. The concentration of cell-free β-HCG mRNA in maternal plasma may be applicable to the prenatal diagnosis of placenta accreta, especially to identify women with placenta accreta likely to require hysterectomy. Copyright © 2014 Elsevier Ltd. All rights reserved.

  18. Chromosomal microarray versus karyotyping for prenatal diagnosis.

    Science.gov (United States)

    Wapner, Ronald J; Martin, Christa Lese; Levy, Brynn; Ballif, Blake C; Eng, Christine M; Zachary, Julia M; Savage, Melissa; Platt, Lawrence D; Saltzman, Daniel; Grobman, William A; Klugman, Susan; Scholl, Thomas; Simpson, Joe Leigh; McCall, Kimberly; Aggarwal, Vimla S; Bunke, Brian; Nahum, Odelia; Patel, Ankita; Lamb, Allen N; Thom, Elizabeth A; Beaudet, Arthur L; Ledbetter, David H; Shaffer, Lisa G; Jackson, Laird

    2012-12-06

    Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis. Samples from women undergoing prenatal diagnosis at 29 centers were sent to a central karyotyping laboratory. Each sample was split in two; standard karyotyping was performed on one portion and the other was sent to one of four laboratories for chromosomal microarray. We enrolled a total of 4406 women. Indications for prenatal diagnosis were advanced maternal age (46.6%), abnormal result on Down's syndrome screening (18.8%), structural anomalies on ultrasonography (25.2%), and other indications (9.4%). In 4340 (98.8%) of the fetal samples, microarray analysis was successful; 87.9% of samples could be used without tissue culture. Microarray analysis of the 4282 nonmosaic samples identified all the aneuploidies and unbalanced rearrangements identified on karyotyping but did not identify balanced translocations and fetal triploidy. In samples with a normal karyotype, microarray analysis revealed clinically relevant deletions or duplications in 6.0% with a structural anomaly and in 1.7% of those whose indications were advanced maternal age or positive screening results. In the context of prenatal diagnostic testing, chromosomal microarray analysis identified additional, clinically significant cytogenetic information as compared with karyotyping and was equally efficacious in identifying aneuploidies and unbalanced rearrangements but did not identify balanced translocations and triploidies. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others; ClinicalTrials.gov number, NCT01279733.).

  19. Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis.

    Directory of Open Access Journals (Sweden)

    Helen E White

    Full Text Available BACKGROUND: Analysis of cell free fetal (cff DNA in maternal plasma is used routinely for non invasive prenatal diagnosis (NIPD of fetal sex determination, fetal rhesus D status and some single gene disorders. True positive results rely on detection of the fetal target being analysed. No amplification of the target may be interpreted either as a true negative result or a false negative result due to the absence or very low levels of cffDNA. The hypermethylated RASSF1A promoter has been reported as a universal fetal marker to confirm the presence of cffDNA. Using methylation-sensitive restriction enzymes hypomethylated maternal sequences are digested leaving hypermethylated fetal sequences detectable. Complete digestion of maternal sequences is required to eliminate false positive results. METHODS: cfDNA was extracted from maternal plasma (n = 90 and digested with methylation-sensitive and insensitive restriction enzymes. Analysis of RASSF1A, SRY and DYS14 was performed by real-time PCR. RESULTS: Hypermethylated RASSF1A was amplified for 79 samples (88% indicating the presence of cffDNA. SRY real time PCR results and fetal sex at delivery were 100% accurate. Eleven samples (12% had no detectable hypermethylated RASSF1A and 10 of these (91% had gestational ages less than 7 weeks 2 days. Six of these samples were male at delivery, five had inconclusive results for SRY analysis and one sample had no amplifiable SRY. CONCLUSION: Use of this assay for the detection of hypermethylated RASSF1A as a universal fetal marker has the potential to improve the diagnostic reliability of NIPD for fetal sex determination and single gene disorders.

  20. Knowledge, awareness and attitude about prenatal sex determination, pre-conception and pre-natal diagnostic techniques act among pregnant women in the South Indian union territory of Puducherry

    Directory of Open Access Journals (Sweden)

    Vijayan Sharmila

    2016-10-01

    Conclusions: Though higher proportion of our study participants knew about the prenatal sex determination, they were not fully aware of the punishment for prenatal sex determination. Pregnant women have to be educated about the penalization for violation of the Act and ethical issues related with female sex selective abortion and feticide. Similar studies in other settings on a larger sample size should be done for in depth understanding of this issue. [Int J Reprod Contracept Obstet Gynecol 2016; 5(10.000: 3470-3474

  1. Structural chromosomal anomalies detected by prenatal genetic diagnosis: our experience.

    Science.gov (United States)

    Farcaş, Simona; Crişan, C D; Andreescu, Nicoleta; Stoian, Monica; Motoc, A G M

    2013-01-01

    The prenatal diagnosis is currently widely spread and facilitates the acquiring of important genetic information about the fetus by a rate extremely accelerate and considered without precedent. In this paper, we like to present our experience concerning the genetic diagnosis and counseling offered for pregnancies in which a structural chromosomal aberration was found. The study group is formed by 528 prenatal samples of amniotic fluid and chorionic villi, received by our laboratory from 2006 through October 2012 for cytogenetic diagnosis. The appropriate genetic investigation was selected based on the indications for prenatal diagnosis. The cases with structural chromosomal anomalies and polymorphic variants were analyzed as regard to the maternal age, gestational age, referral indications and type of chromosomal anomaly found. A total number of 21 structural chromosomal anomalies and polymorphic variants were identified in the study group. Out of 21 structural chromosomal anomalies and polymorphic variants, six deletions and microdeletions, four situations with abnormal long "p" arm of acrocentric chromosomes, two duplications, two reciprocal translocations, two inversions, two additions, one Robertsonian translocation associating trisomy 13, one 9q heteromorphism and one complex chromosome rearrangement were noticed. To the best of our knowledge, this is the first Romanian study in which the diagnostic strategies and the management of the prenatal cases with structural rearrangements are presented. The data provided about the diagnosis strategy and the management of the prenatal cases with structural chromosomal anomalies represents a useful tool in genetic counseling of pregnancies diagnosed with rare structural chromosomal anomalies.

  2. Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Ozge Ozalp Yuregir

    2012-02-01

    Full Text Available Prenatal diagnosis is the process of determining the health or disease status of the fetus or embryo before birth. The purpose is early detection of diseases and early intervention when required. Prenatal genetic tests comprise of cytogenetic (chromosome assessment and molecular (DNA mutation analysis tests. Prenatal testing enables the early diagnosis of many diseases in risky pregnancies. Furthermore, in the event of a disease, diagnosing prenatally will facilitate the planning of necessary precautions and treatments, both before and after birth. Upon prenatal diagnosis of some diseases, termination of the pregnancy could be possible according to the family's wishes and within the legal frameworks. [Archives Medical Review Journal 2012; 21(1.000: 80-94

  3. Monocyte-targeting supramolecular micellar assemblies: a molecular diagnostic tool for atherosclerosis.

    Science.gov (United States)

    Chung, Eun Ji; Mlinar, Laurie B; Nord, Kathryn; Sugimoto, Matthew J; Wonder, Emily; Alenghat, Francis J; Fang, Yun; Tirrell, Matthew

    2015-02-18

    Atherosclerosis is a multifactorial inflammatory disease that can progress silently for decades and result in myocardial infarction, stroke, and death. Diagnostic imaging technologies have made great strides to define the degree of atherosclerotic plaque burden through the severity of arterial stenosis. However, current technologies cannot differentiate more lethal "vulnerable plaques," and are not sensitive enough for preventive medicine. Imaging early molecular markers and quantifying the extent of disease progression continues to be a major challenge in the field. To this end, monocyte-targeting, peptide amphiphile micelles (PAMs) are engineered through the incorporation of the chemokine receptor CCR2-binding motif of monocyte chemoattractant protein-1 (MCP-1) and MCP-1 PAMs are evaluated preclinically as diagnostic tools for atherosclerosis. Monocyte-targeting is desirable as the influx of monocytes is a marker of early lesions, accumulation of monocytes is linked to atherosclerosis progression, and rupture-prone plaques have higher numbers of monocytes. MCP-1 PAMs bind to monocytes in vitro, and MCP-1 PAMs detect and discriminate between early- and late-stage atherosclerotic aortas. Moreover, MCP-1 PAMs are found to be eliminated via renal clearance and the mononuclear phagocyte system (MPS) without adverse side effects. Thus, MCP-1 PAMs are a promising new class of diagnostic agents capable of monitoring the progression of atherosclerosis.

  4. Established and Adapted Diagnostic Tools for Investigation of a Special Twin-Wire Arc Spraying Process

    Science.gov (United States)

    König, Johannes; Lahres, Michael; Zimmermann, Stephan; Schein, Jochen

    2016-10-01

    In the LDS® ( Lichtbogendrahtspritzen) process, a twin-wire arc spraying (TWAS) process developed by Daimler AG, the gas injection and feed to the arc play a crucial role in separating the molten particles from the wire ends. This paper describes an investigation of the gas and particle behavior according to individual LDS® process parameters. Coating problems are not considered. The measurements are separated into two different parts: "cold" (without arc and particles) and "hot" (with arc and particles). The results provide the first detailed understanding of the effect of different LDS® process parameters. A correlation between the gas parameter settings and the particle beam properties was found. Using established and adapted diagnostic tools, as also applied for conventional TWAS processes, this special LDS® process was investigated and the results (gas and particle behavior) validated, thereby allowing explanation and comparison of the diagnostic methods, which is the main focus of this paper. Based on error analysis, individual instabilities, limits, and deviations during the gas determinations and particle measurements are explained in more detail. The paper concludes with presentation of the first particle-shadow diagnostic results and main statements regarding these investigations.

  5. Differential scanning calorimetry as a complementary diagnostic tool for the evaluation of biological samples.

    Science.gov (United States)

    Garbett, Nichola C; Brock, Guy N

    2016-05-01

    Differential scanning calorimetry (DSC) is a tool for measuring the thermal stability profiles of complex molecular interactions in biological fluids. DSC profiles (thermograms) of biofluids provide specific signatures which are being utilized as a new diagnostic approach for characterizing disease but the development of these approaches is still in its infancy. This article evaluates several approaches for the analysis of thermograms which could increase the utility of DSC for clinical application. Thermograms were analyzed using localized thermogram features and principal components (PCs). The performance of these methods was evaluated alongside six models for the classification of a data set comprised of 300 systemic lupus erythematosus (SLE) patients and 300 control subjects obtained from the Lupus Family Registry and Repository (LFRR). Classification performance was substantially higher using the penalized algorithms relative to localized features/PCs alone. The models were grouped into two sets, the first having smoother solution vectors but lower classification accuracies than the second with seemingly noisier solution vectors. Coupling thermogram technology with modern classification algorithms provides a powerful diagnostic approach for analysis of biological samples. The solution vectors from the models may reflect important information from the thermogram profiles for discriminating between clinical groups. DSC thermograms show sensitivity to changes in the bulk plasma proteome that correlate with clinical status. To move this technology towards clinical application the development of new approaches is needed to extract discriminatory parameters from DSC profiles for the comparison and diagnostic classification of patients. Copyright © 2015 Elsevier B.V. All rights reserved.

  6. Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics.

    Directory of Open Access Journals (Sweden)

    Kim De Leeneer

    Full Text Available Despite improvements in terms of sequence quality and price per basepair, Sanger sequencing remains restricted to screening of individual disease genes. The development of massively parallel sequencing (MPS technologies heralded an era in which molecular diagnostics for multigenic disorders becomes reality. Here, we outline different PCR amplification based strategies for the screening of a multitude of genes in a patient cohort. We performed a thorough evaluation in terms of set-up, coverage and sequencing variants on the data of 10 GS-FLX experiments (over 200 patients. Crucially, we determined the actual coverage that is required for reliable diagnostic results using MPS, and provide a tool to calculate the number of patients that can be screened in a single run. Finally, we provide an overview of factors contributing to false negative or false positive mutation calls and suggest ways to maximize sensitivity and specificity, both important in a routine setting. By describing practical strategies for screening of multigenic disorders in a multitude of samples and providing answers to questions about minimum required coverage, the number of patients that can be screened in a single run and the factors that may affect sensitivity and specificity we hope to facilitate the implementation of MPS technology in molecular diagnostics.

  7. Microarray-based genomic profiling as a diagnostic tool in acute lymphoblastic leukemia.

    Science.gov (United States)

    Simons, Annet; Stevens-Kroef, Marian; El Idrissi-Zaynoun, Najat; van Gessel, Sabine; Weghuis, Daniel Olde; van den Berg, Eva; Waanders, Esmé; Hoogerbrugge, Peter; Kuiper, Roland; van Kessel, Ad Geurts

    2011-12-01

    In acute lymphoblastic leukemia (ALL) specific genomic abnormalities provide important clinical information. In most routine clinical diagnostic laboratories conventional karyotyping, in conjunction with targeted screens using e.g., fluorescence in situ hybridization (FISH), is currently considered as the gold standard to detect such aberrations. Conventional karyotyping, however, is limited in its resolution and yield, thus hampering the genetic diagnosis of ALL. We explored whether microarray-based genomic profiling would be feasible as an alternative strategy in a routine clinical diagnostic setting. To this end, we compared conventional karyotypes with microarray-deduced copy number aberration (CNA) karyotypes in 60 ALL cases. Microarray-based genomic profiling resulted in a CNA detection rate of 90%, whereas for conventional karyotyping this was 61%. In addition, many small (< 5 Mb) genetic lesions were encountered, frequently harboring clinically relevant ALL-related genes such as CDKN2A/B, ETV6, PAX5, and IKZF1. From our data we conclude that microarray-based genomic profiling serves as a robust tool in the genetic diagnosis of ALL, outreaching conventional karyotyping in CNA detection both in terms of sensitivity and specificity. We also propose a practical workflow for a comprehensive and objective interpretation of CNAs obtained through microarray-based genomic profiling, thereby facilitating its application in a routine clinical diagnostic setting.

  8. Use of Aptamers as Diagnostics Tools and Antiviral Agents for Human Viruses

    Directory of Open Access Journals (Sweden)

    Víctor M. González

    2016-12-01

    Full Text Available Appropriate diagnosis is the key factor for treatment of viral diseases. Time is the most important factor in rapidly developing and epidemiologically dangerous diseases, such as influenza, Ebola and SARS. Chronic viral diseases such as HIV-1 or HCV are asymptomatic or oligosymptomatic and the therapeutic success mainly depends on early detection of the infective agent. Over the last years, aptamer technology has been used in a wide range of diagnostic and therapeutic applications and, concretely, several strategies are currently being explored using aptamers against virus proteins. From a diagnostics point of view, aptamers are being designed as a bio-recognition element in diagnostic systems to detect viral proteins either in the blood (serum or plasma or into infected cells. Another potential use of aptamers is for therapeutics of viral infections, interfering in the interaction between the virus and the host using aptamers targeting host-cell matrix receptors, or attacking the virus intracellularly, targeting proteins implicated in the viral replication cycle. In this paper, we review how aptamers working against viral proteins are discovered, with a focus on recent advances that improve the aptamers’ properties as a real tool for viral infection detection and treatment.

  9. Super-Resolution Microscopy of Cerebrospinal Fluid Biomarkers as a Tool for Alzheimer's Disease Diagnostics.

    Science.gov (United States)

    Zhang, William I; Antonios, Gregory; Rabano, Alberto; Bayer, Thomas A; Schneider, Anja; Rizzoli, Silvio O

    2015-01-01

    Alzheimer's disease (AD) is neuropathologically characterized by aggregates of amyloid-β peptides (Aβ) and tau proteins. The consensus in the AD field is that Aβ and tau should serve as diagnostic biomarkers for AD. However, their aggregates have been difficult to investigate by conventional fluorescence microscopy, since their size is below the diffraction limit (∼200 nm). To solve this, we turned to a super-resolution imaging technique, stimulated emission depletion (STED) microscopy, which has a high enough precision to allow the discrimination of low- and high-molecular weight aggregates prepared in vitro. We used STED to analyze the structural organization of Aβ and tau in cerebrospinal fluid (CSF) from 36 AD patients, 11 patients with mild cognitive impairment (MCI), and 21 controls. We measured the numbers of aggregates in the CSF samples, and the aggregate sizes and intensities. These parameters enabled us to distinguish AD patients from controls with a specificity of ∼87% and a sensitivity of ∼79% . In addition, the aggregate parameters determined with STED microscopy correlated with the severity of cognitive impairment in AD patients. Finally, these parameters may be useful as predictive tools for MCI cases. The STED parameters of two MCI patients who developed AD during the course of the study, as well as of MCI patients whose Aβ ELISA values fall within the accepted range for AD, placed them close to the AD averages. We suggest that super-resolution imaging is a promising tool for AD diagnostics.

  10. COMPREHENSIVE DIAGNOSTIC AND IMPROVEMENT TOOLS FOR HVAC-SYSTEM INSTALLATIONS IN LIGHT COMMERCIAL BUILDINGS

    Energy Technology Data Exchange (ETDEWEB)

    Abram Conant; Mark Modera; Joe Pira; John Proctor; Mike Gebbie

    2004-10-31

    Proctor Engineering Group, Ltd. (PEG) and Carrier-Aeroseal LLP performed an investigation of opportunities for improving air conditioning and heating system performance in existing light commercial buildings. Comprehensive diagnostic and improvement tools were created to address equipment performance parameters (including airflow, refrigerant charge, and economizer operation), duct-system performance (including duct leakage, zonal flows and thermal-energy delivery), and combustion appliance safety within these buildings. This investigation, sponsored by the National Energy Technology Laboratory, a division of the U.S. Department of Energy, involved collaboration between PEG and Aeroseal in order to refine three technologies previously developed for the residential market: (1) an aerosol-based duct sealing technology that allows the ducts to be sealed remotely (i.e., without removing the ceiling tiles), (2) a computer-driven diagnostic and improvement-tracking tool for residential duct installations, and (3) an integrated diagnosis verification and customer satisfaction system utilizing a combined computer/human expert system for HVAC performance. Prior to this work the aerosol-sealing technology was virtually untested in the light commercial sector--mostly because the savings potential and practicality of this or any other type of duct sealing had not been documented. Based upon the field experiences of PEG and Aeroseal, the overall product was tailored to suit the skill sets of typical HVAC-contractor personnel.

  11. Evaluation of optical coherence tomography as a non-invasive diagnostic tool in cutaneous wound healing.

    Science.gov (United States)

    Kuck, Monika; Strese, Helene; Alawi, Seyed Arash; Meinke, Martina C; Fluhr, Joachim W; Burbach, Guido J; Krah, Martin; Sterry, Wolfram; Lademann, Jürgen

    2014-02-01

    The monitoring of wound-healing processes is indispensable for the therapeutic effectiveness and improved care of chronic wounds. Histological sections provide the best morphological assessment of wound recovery, but cause further tissue destruction and increase the risk of infection. Therefore, it is reasonable to apply a diagnostic tool that allows a non-invasive and reliable observation of morphological changes in wound healing. Optical coherence tomography (OCT) is an imaging technique for in vivo evaluation of skin diseases with a resolution close to histopathology. The aim of this study was to investigate whether OCT is suited to display the phases of wound healing. For this purpose, six patients with chronic wounds were objectively characterized by OCT during a period of 2 weeks. Comparable results between histological findings and OCT were achieved. OCT allowed the detection of partial loss of the epidermis, vasoconstriction, vasodilatation and epithelialization. Consequently, OCT could be a potential non-invasive diagnostic tool for the characterization and monitoring of cutaneous wound-healing processes over time. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  12. The Limpopo Non-Metropolitan Drinking Water Supplier Response to a Diagnostic Tool for Technical Compliance.

    Science.gov (United States)

    Nefale, Avhashoni D; Kamika, Ilunga; Obi, Chikwelu L; Momba, Maggy Nb

    2017-07-19

    Water services providers should supply water that is fit for human consumption, taking into account multi-barrier approaches and technical aspects such as design aspects, operation monitoring, final water quality compliance monitoring, plant monitoring practices, maintenance, and risk management practices. Against this background, this study focused on applying the diagnostic tool for technical compliance as well as assessing the compliance of water treatment plants with management norms. Six plants in the Vhembe District Municipality were selected; the Vondo, Malamulele, Mutshedzi, and Mutale plants (conventional), and the Dzingahe and Tshedza package plants. During the first assessment, four (Malamulele, Mutshedzi, Mutale and Dzingahe) plants scored between 44% and 49% and achieved Class 3 certification, revealing serious challenges requiring immediate intervention. Two water plants (Vondo and Tshedza, scoring 53% and 63%, respectively) were in the Class 2 category, revealing serious challenges requiring attention and improvement. During the second assessment, all plants scored between 63% and 87% (Class 2 category). The greatest improvement (30%) was noted for the Dzingahe and Tshedza plants, followed by the Malamulele plant, while the Mutale, Vondo, and Mutshedzi plants improved their scores by 20%, 17% and 14%, respectively. After corrective actions and re-measurement, no plant complied. It is recommended that Water Services Providers (WSPs) regularly apply the diagnostic tools and water safety plans as developed in order to comply with applicable standards.

  13. The Limpopo Non-Metropolitan Drinking Water Supplier Response to a Diagnostic Tool for Technical Compliance

    Directory of Open Access Journals (Sweden)

    Avhashoni D. Nefale

    2017-07-01

    Full Text Available Water services providers should supply water that is fit for human consumption, taking into account multi-barrier approaches and technical aspects such as design aspects, operation monitoring, final water quality compliance monitoring, plant monitoring practices, maintenance, and risk management practices. Against this background, this study focused on applying the diagnostic tool for technical compliance as well as assessing the compliance of water treatment plants with management norms. Six plants in the Vhembe District Municipality were selected; the Vondo, Malamulele, Mutshedzi, and Mutale plants (conventional, and the Dzingahe and Tshedza package plants. During the first assessment, four (Malamulele, Mutshedzi, Mutale and Dzingahe plants scored between 44% and 49% and achieved Class 3 certification, revealing serious challenges requiring immediate intervention. Two water plants (Vondo and Tshedza, scoring 53% and 63%, respectively were in the Class 2 category, revealing serious challenges requiring attention and improvement. During the second assessment, all plants scored between 63% and 87% (Class 2 category. The greatest improvement (30% was noted for the Dzingahe and Tshedza plants, followed by the Malamulele plant, while the Mutale, Vondo, and Mutshedzi plants improved their scores by 20%, 17% and 14%, respectively. After corrective actions and re-measurement, no plant complied. It is recommended that Water Services Providers (WSPs regularly apply the diagnostic tools and water safety plans as developed in order to comply with applicable standards.

  14. EICT Based Diagnostic Tool and Monitoring System for EMF Radiation to Sustain Environmental Safety

    Directory of Open Access Journals (Sweden)

    K Parandham

    2013-10-01

    Full Text Available the adverse effects of electromagnetic radiation from mobile phones and communication towers on health issues are being well documented today. However, exact correlation between radiation of communication towers and their radiation levels, are not monitored. Aim of this paper is to study, analyze, apply networking and data mining technologies to develop an EICT based Diagnostic tool and Monitoring system for electromagnetic radiation levels into environment. This system is to network all mobile towers of each service provider as a single entity and then connect all service providers to a central monitoring agency online for continuous monitoring. Since very large numbers of mobile towers exist in India, each state can have its own regional network which is further networked with national central network. This can be enlarged to entire world for monitoring the EMF radiation levels near every mobile tower. For these regional national and international networks the connectivity is to be instituted by the respective service provider. In this paper an attempt is made to logically apply Data Mining and networking technologies to develop a central EICT based diagnostic tool and monitoring system for EMF radiation from each transmission tower. With this system regional, national and international agencies/authorities can monitor the EMF radiation at each and every transmission tower area continuously and verify them with exposure standards. It is proposed to display this information using Integrated Display System in front of monitoring authority at appropriate levels.

  15. Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.

    Science.gov (United States)

    Tacik, Pawel; Guthrie, Kimberly J; Strongosky, Audrey J; Broderick, Daniel F; Riegert-Johnson, Douglas L; Tang, Sha; El-Khechen, Dima; Parker, Alexander S; Ross, Owen A; Wszolek, Zbigniew K

    2015-03-01

    Complex neurologic phenotypes are inherently difficult to diagnose. Whole-exome sequencing (WES) is a new tool in the neurologist's diagnostic armamentarium. Whole-exome sequencing can be applied to investigate the "diagnostic odyssey" cases. These cases involve patients with rare diseases that likely have a genetic etiology but have failed to be diagnosed by clinical evaluation and targeted gene testing. We describe such a case, a 22-year-old man who had mild intellectual developmental disability and episodes of jerking ataxic movements that affected his whole body. He underwent numerous multidisciplinary and multicentric evaluations throughout his life that failed to establish a clear diagnosis. Following his visit to Mayo Clinic in Jacksonville, Florida, WES was applied for genetic determination of the unknown disorder in the proband and his biological parents and sister. Additional clinical evaluation, magnetic resonance neuroimaging, electromyography, and electroencephalography of the proband were performed to verify the phenotype after the WES results were available. To our knowledge, this is the first report of the application of WES to facilitate the diagnosis of episodic ataxia type 1. This case illustrates that WES supported by clinical data is a useful and time-saving tool in the evaluation of patients with rare and complex hereditary disorders. Copyright © 2015 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

  16. Development of in situ diagnostics and tools handled by a light multipurpose carrier for tokamak in-vessel interventions

    Energy Technology Data Exchange (ETDEWEB)

    Houry, M., E-mail: michael.houry@cea.f [CEA, Institut de Recherche sur la Fusion par confinement Magnetique, F-13108 Saint-Paul-Lez-Durance (France); Bayetti, P. [CEA, Institut de Recherche sur la Fusion par confinement Magnetique, F-13108 Saint-Paul-Lez-Durance (France); Keller, D. [CEA, LIST, Service de Robotique Interactive, 18 route du Panorama, BP6, F-92265 Fontenay-aux-Roses (France); Gargiulo, L.; Bruno, V.; Hatchressian, J.C.; Hernandez, C.; Martins, J.P. [CEA, Institut de Recherche sur la Fusion par confinement Magnetique, F-13108 Saint-Paul-Lez-Durance (France); Measson, Y.; Perrot, Y.; Russotto, F.X. [CEA, LIST, Service de Robotique Interactive, 18 route du Panorama, BP6, F-92265 Fontenay-aux-Roses (France)

    2010-12-15

    A multipurpose carrier prototype called Articulated Inspection Arm (AIA) has been developed and demonstrated by CEA laboratories to operate embedded diagnostics or tools into a tokamak vacuum-vessel. The AIA robot with a vision diagnostic has been deployed inside the vacuum-vessel of Tore Supra tokamak and has realized closed inspections of plasma facing components' under relevant conditions (high vacuum and temperature). CEA is engaged in development of interchangeable diagnostics or tools to be plugged on the front head of the arm. This covers applications such as in-vessel inspections, water leak localization, Plasma Facing Components (PFCs) characterization and treatment. This paper describes R and D activities performed in CEA laboratories to develop diagnostics and tools for in-vessel interventions. The AIA multipurpose carrier to carry such devices is also presented. The first demonstration of a quick intervention for plasma facing components performed in the Tore Supra Facility is described as well.

  17. Rapid antigen detection test for respiratory syncytial virus diagnosis as a diagnostic tool,

    Directory of Open Access Journals (Sweden)

    Flávio da Silva Mesquita

    Full Text Available Abstract Objective: The aim of this study was to evaluate the QuickVue® RSV Test Kit (QUIDEL Corp, CA, USA as a screening tool for respiratory syncytial virus in children with acute respiratory disease in comparison with the indirect immunofluorescence assay as gold standard. In Brazil, rapid antigen detection tests for respiratory syncytial virus are not routinely utilized as a diagnostic tool, except for the diagnosis of dengue and influenza. Methods: The authors retrospectively analyzed 486 nasopharyngeal aspirate samples from children under age 5 with acute respiratory infection, between December 2013 and August 2014, the samples were analyzed by indirect immunofluorescence assay and QuickVue® RSV Test kit. Samples with discordant results were analyzed by real time PCR and nucleotide sequencing. Results: From 313 positive samples by immunofluorescence assays, 282 (90% were also positive by the rapid antigen detection test, two were positive only by rapid antigen detection test, 33 were positive only by immunofluorescence assays, and 171 were positive by both methods. The 35 samples with discordant results were analyzed by real time PCR; the two samples positive only by rapid antigen detection test and the five positive only by immunofluorescence assays were also positive by real time PCR. There was no relation between the negativity by QuickVue® RSV Test and viral load or specific strain. The QuickVue® RSV Test showed sensitivity of 90%, specificity of 98.8%, predictive positive value of 99.3%, and negative predictive value of 94.6%, with accuracy of 93.2% and agreement κ index of 0.85 in comparison to immunofluorescence assay. Conclusions: This study demonstrated that the QuickVue® RSV Test Kit can be effective in early detection of Respiratory syncytial virus in nasopharyngeal aspirate and is reliable for use as a diagnostic tool in pediatrics.

  18. Rapid antigen detection test for respiratory syncytial virus diagnosis as a diagnostic tool.

    Science.gov (United States)

    Mesquita, Flávio da Silva; Oliveira, Danielle Bruna Leal de; Crema, Daniela; Pinez, Célia Miranda Nunes; Colmanetti, Thaís Cristina; Thomazelli, Luciano Matsumia; Gilio, Alfredo Elias; Vieira, Sandra Elisabeth; Martinez, Marina Baquerizo; Botosso, Viviane Fongaro; Durigon, Edison Luiz

    The aim of this study was to evaluate the QuickVue(®) RSV Test Kit (QUIDEL Corp, CA, USA) as a screening tool for respiratory syncytial virus in children with acute respiratory disease in comparison with the indirect immunofluorescence assay as gold standard. In Brazil, rapid antigen detection tests for respiratory syncytial virus are not routinely utilized as a diagnostic tool, except for the diagnosis of dengue and influenza. The authors retrospectively analyzed 486 nasopharyngeal aspirate samples from children under age 5 with acute respiratory infection, between December 2013 and August 2014, the samples were analyzed by indirect immunofluorescence assay and QuickVue(®) RSV Test kit. Samples with discordant results were analyzed by real time PCR and nucleotide sequencing. From 313 positive samples by immunofluorescence assays, 282 (90%) were also positive by the rapid antigen detection test, two were positive only by rapid antigen detection test, 33 were positive only by immunofluorescence assays, and 171 were positive by both methods. The 35 samples with discordant results were analyzed by real time PCR; the two samples positive only by rapid antigen detection test and the five positive only by immunofluorescence assays were also positive by real time PCR. There was no relation between the negativity by QuickVue(®) RSV Test and viral load or specific strain. The QuickVue(®) RSV Test showed sensitivity of 90%, specificity of 98.8%, predictive positive value of 99.3%, and negative predictive value of 94.6%, with accuracy of 93.2% and agreement κ index of 0.85 in comparison to immunofluorescence assay. This study demonstrated that the QuickVue(®) RSV Test Kit can be effective in early detection of Respiratory syncytial virus in nasopharyngeal aspirate and is reliable for use as a diagnostic tool in pediatrics. Copyright © 2016 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  19. Prenatal Clinical Assessment of NT-proBNP as a Diagnostic Tool for Preeclampsia, Gestational Hypertension and Gestational Diabetes Mellitus

    Science.gov (United States)

    Sadlecki, Pawel; Grabiec, Marek; Walentowicz-Sadlecka, Malgorzata

    2016-01-01

    Common complications of pregnancy include preeclampsia (PE), gestational hypertension (GH) and gestational diabetes mellitus (GDM). Hypertensive disorders (PE/GH) and GDM may result in greater maternal, fetal and neonatal morbidity and mortality. Women with PE/GH, one of the most common causes of heart burden in an obstetrical setting, present with elevated serum levels of BNP and NT-proBNP. The aim of this study was to shed more light on the role of NT-proBNP in pathophysiology of PE, GH and GDM. The study included 156 pregnant women with singleton pregnancies. A total of 26 women developed arterial hypertension during pregnancy, 14 were diagnosed with PE, and GDM was detected in 81 patients. The control group included 35 women with uncomplicated pregnancies, normal arterial blood pressure and normal glucose concentrations. Patients with GH presented with significantly higher serum concentrations of NT-proBNPthan normotensive women (65.5 vs. 37.4 pg/ml; p = 0.0136). Serum levels of NT-proBNP in patients with PE were the highest of all the analyzed subsets, being significantly higher than in women without this condition (89.00 vs. 37.4pg/ml,p = 0,0136). However, women with and without GDM did not differ significantly in terms of their serum NT-proBNPconcentrations. Serum NT-proBNP (pg/ml) (p = 0.0001) and BMI (p<0.0001) turned out to be independent predictors of GH on multivariate logistic regression analysis.Moreover, serum NT-proBNP (pg/ml) was identified as an independent indicator of PE (p = 0.0016). A significant inverse correlation was found between birth weight and maternal serum NT-proBNP concentrations. In our opinion, NT-proBNP can be a useful clinical marker of GH and PE. Determination of NT-proBNP levels may be helpful in identification of patients with PE and GH and in their qualification for intensive treatment; this in turn, may be reflected by better neonatal outcomes. PMID:27685993

  20. Control Prenatal

    National Research Council Canada - National Science Library

    P. Susana Aguilera, DRA; M.D. Peter Soothill, MR

    2014-01-01

    Los principales objetivos del control prenatal son identificar aquellos pacientes de mayor riesgo, con el fin de realizar intervenciones en forma oportuna que permitan prevenir dichos riesgos y así...

  1. Image-matching as a medical diagnostic support tool (DST) for brain diseases in children.

    Science.gov (United States)

    Huang, H K; Nielsen, J F; Nelson, Marvin D; Liu, Lifeng

    2005-01-01

    Imaging-matching is an important research area in imaging informatics. We have developed and evaluated a novel diagnostic support tool (DST) based on medical image matching using MR brain images. The approach consists of two steps, database generation and image matching. The database contains pre-diagnosed MR brain images. As the images are added to the database, they are registered to the 3D Talairach coordinate system. In addition, regions of interests (ROI) are generated, and image-processing techniques are used to extract relevant image parameters related to the brain and diseases from the ROIs and from the entire MR image. The second step is to retrieve relevant information from the database by performing image matching. In this step, the physician first submits a query image. The DST computes the similarity between the query image and each of the images in the database, and then presents the most similar images to the user. Since the database contains pre-diagnosed images, the retrieved cases tend to contain relevant diagnostic information. To evaluate the usefulness of the DST in a clinical setting, pediatric brain diseases were used. The database contains 2500 pediatric patients between ages 0 and 18 with brain Magnetic Resonance (MR) images of known brain lesions. A testbed was established at the Children's Hospital Los Angeles (CHLA) for acquiring MR images from the PACS server of patients with known lesions. These images were matched against those in the DST pediatric brain MR database. An expert pediatric neuroradiologist evaluated the matched results. We found that in most cases, the image-matching method was able to quickly retrieve images with relevant diagnostic content. The evaluation method and results are given.

  2. Virtual Guidance Ultrasound: A Tool to Obtain Diagnostic Ultrasound for Remote Environments

    Science.gov (United States)

    Caine,Timothy L.; Martin David S.; Matz, Timothy; Lee, Stuart M. C.; Stenger, Michael B.; Platts, Steven H.

    2012-01-01

    Astronauts currently acquire ultrasound images on the International Space Station with the assistance of real-time remote guidance from an ultrasound expert in Mission Control. Remote guidance will not be feasible when significant communication delays exist during exploration missions beyond low-Earth orbit. For example, there may be as much as a 20- minute delay in communications between the Earth and Mars. Virtual-guidance, a pre-recorded audio-visual tutorial viewed in real-time, is a viable modality for minimally trained scanners to obtain diagnostically-adequate images of clinically relevant anatomical structures in an autonomous manner. METHODS: Inexperienced ultrasound operators were recruited to perform carotid artery (n = 10) and ophthalmic (n = 9) ultrasound examinations using virtual guidance as their only instructional tool. In the carotid group, each each untrained operator acquired two-dimensional, pulsed, and color Doppler of the carotid artery. In the ophthalmic group, operators acquired representative images of the anterior chamber of the eye, retina, optic nerve, and nerve sheath. Ultrasound image quality was evaluated by independent imaging experts. RESULTS: Eight of the 10 carotid studies were judged to be diagnostically adequate. With one exception the quality of all the ophthalmic images were adequate to excellent. CONCLUSION: Diagnostically-adequate carotid and ophthalmic ultrasound examinations can be obtained by untrained operators with instruction only from an audio/video tutorial viewed in real time while scanning. This form of quick-response-guidance, can be developed for other ultrasound examinations, represents an opportunity to acquire important medical and scientific information for NASA flight surgeons and researchers when trained medical personnel are not present. Further, virtual guidance will allow untrained personnel to autonomously obtain important medical information in remote locations on Earth where communication is

  3. Implantable "loop recorder": A new diagnostic tool for syncope of unknown cause

    Directory of Open Access Journals (Sweden)

    Milašinović Goran

    2005-01-01

    Full Text Available Introduction. The implantable loop recorder (ILR is a new diagnostic tool in cardiology for establishing The causes of unexplained syncope in patients where standard conventional tests, invasive tests included, have failed. The device is a diagnostic "pacemaker," surgically implanted underneath the skin of the chest, with leads attached to the case of the device, not requiring endovenous lead implantation. Heart rhythm is monitored continuously on the basis of an endless loop, up to a maximum period of 14 months. Recording is carried out either by applying an outside activator whenever symptoms occur, or automatically, according to a preset algorithm for bradycardia, tachycardia, and/or asystolic detection. Objective. The aim of this study was to present this new diagnostic method as well as our first experiences with its implementation. METHOD We followed 5 patients (3 male, 2 female, mean age: 46.4±19 who had ILRs ("Reveal Plus," Medtronic Inc., USA implanted at our centre, over a period of 14 months (7.6 ±5.5], concentrating on their clinical course, symptom occurrence, and electronically monitored heart rhythm at the time of ILR auto activation and/or recordings triggered by outside activation whenever a patient's symptoms were discernible. Results. In three patients, the ILR revealed syncope aetiology by documenting heart rhythm at the time of its occurrence. In one patient, involving a lethal outcome, the ILR was not explanted, so that the rhythm at the time of the fatal syncope, although assumed, remained undocumented, in one, most recently implanted patient, follow-up is still in progress. Conclusion. The implantable loop recorder represents an important innovation and a step forward in establishing the causes of recurrent syncope, which cannot be determined by standard invasive and non-invasive testing.

  4. Laparohysteroscopy in female infertility: A diagnostic cum therapeutic tool in Indian setting.

    Science.gov (United States)

    Puri, Suman; Jain, Dinesh; Puri, Sandeep; Kaushal, Sandeep; Deol, Satjeet Kaur

    2015-01-01

    To evaluate the role of laparohysteroscopy in female infertility andto study the effect of therapeutic procedures in achieving fertility. Patients with female infertility presenting to outpatient Department of Obstetrics and Gynecology were evaluated over a period of 18 months. Fifty consenting subjects excluding male factor infertility with normal hormonal profile and no contraindication to laparoscopy were subject to diagnostic laparoscopy and hysteroscopy. T-test. We studied 50 patients comprising of 24 (48%) cases of primary infertility and 26 (52%) patients of secondary infertility. The average age of active married life for 50 patients was between 8 and 9 years. In our study, the most commonly found pathologies were PCOD, endometroisis and tubal blockage. 11 (28.2) patients conceived after laparohysteroscopy followed by artificial reproductive techniques. This study demonstrates the benefit of laparohysteroscopy for diagnosis and as a therapeutic tool in patients with primary and secondary infertility. We were able to achieve a higher conception rate of 28.2%.

  5. Advanced microscopic and histochemical techniques: diagnostic tools in the molecular era of myology

    Directory of Open Access Journals (Sweden)

    G Meola

    2009-06-01

    Full Text Available Over the past two centuries, myology (i.e. the basic and clinical science of muscle and muscle disease has passed through 3 stages of development: the classical period, the modern stage and the molecular era. The classical period spans the last part of nineteenth century and the earlier part of the twentieth century. During this time, several major muscle disease were clinically and pathologically characterized, including Duchenne muscular dystrophy (DMD, myotonic dystrophy (DM and facioscapulohumeral dystrophy (FSHD. The modern stage in the second half of the twentieth century is characterized by the adaptation of histo and cytochemical techniques to the study of muscle biopsies. These tools improved the diagnostic accuracy and made possible the identification of new changes and structures (Engel and Cunningham, 1963; Scarlato, 1975.

  6. [Plasma cholesterol determination in birds--a diagnostic tool for detection of organophosphate and carbamate intoxication].

    Science.gov (United States)

    Kiesau, B; Kummerfeld, N

    1998-07-01

    An investigation was done on the clinical usefulness of the dry chemistry analyzer Vitros DT 60 II for determination of avian plasma cholinesterase. The analytical reliability of the method, evaluated by precision and accuracy, proved to be high for plasma of numerous pet and wild birds. Values of normal plasma-cholinesterase activity were established for different psittacine and European wild birds. Significant differences in physiologic plasma-cholinesterase activity were noted between closely related species as well as between juvenile and adult birds. These findings emphasize the necessity to use control values of the same species and age group for comparison. Dry chemistry plasma-cholinesterase determination can be used as a diagnostic tool for detection of organophosphate and carbamate poisonings in the majority of investigated birds.

  7. Diagnostic Tools for Operation and Optimization of the ELBE-FEL

    CERN Document Server

    Michel, P; Lehnert, U; Schneider, C; Schurig, R; Seidel, W; Teichert, J; Wohlfarth, D

    2005-01-01

    A FEL in the mid infrared range is one of the applications of the ELBE cw-electron accelerator. The successful operation of the lasing process for the different wavelength is mainly determined by the alignment of the optical cavities, the bunch length and the energy spread of the electron beam so as the transversal adjustment of the beam through the FEL. The energy spread and the bunch length of the electron beam have their minima at different phase conditions of the accelerator. For various energy settings of the accelerator a special adjustment of both parameters has to be found for the lasing process. The presentation describes the diagnostic tools used at ELBE for the correct alignment of the optical cavity, the steering of the electron beam through the FEL and the adjustment of the electron beam parameters with respect to energy spread and bunch length.

  8. An Update on Clinical Burden, Diagnostic Tools, and Therapeutic Options of Staphylococcus aureus

    Science.gov (United States)

    Reddy, Prakash Narayana; Srirama, Krupanidhi; Dirisala, Vijaya R

    2017-01-01

    Staphylococcus aureus is an important pathogen responsible for a variety of diseases ranging from mild skin and soft tissue infections, food poisoning to highly serious diseases such as osteomyelitis, endocarditis, and toxic shock syndrome. Proper diagnosis of pathogen and virulence factors is important for providing timely intervention in the therapy. Owing to the invasive nature of infections and the limited treatment options due to rampant spread of antibiotic-resistant strains, the trend for development of vaccines and antibody therapy is increasing at rapid rate than development of new antibiotics. In this article, we have discussed elaborately about the host-pathogen interactions, clinical burden due to S aureus infections, status of diagnostic tools, and treatment options in terms of prophylaxis and therapy. PMID:28579798

  9. Development of class model based on blood biochemical parameters as a diagnostic tool of PSE meat.

    Science.gov (United States)

    Qu, Daofeng; Zhou, Xu; Yang, Feng; Tian, Shiyi; Zhang, Xiaojun; Ma, Lin; Han, Jianzhong

    2017-06-01

    A fast, sensitive and effective method based on the blood biochemical parameters for the detection of PSE meat was developed in this study. A total of 200 pigs were slaughtered in the same slaughterhouse. Meat quality was evaluated by measuring pH, electrical conductivity and color at 45min, 2h and 24h after slaughtering in M. longissimus thoracis et lumborum (LD). Blood biochemical parameters were determined in blood samples collected during carcass bleeding. Principal component analysis (PCA) biplot showed that high levels of exsanguination Creatine Kinase, Lactate Dehydrogenase, Aspertate aminotransferase, blood glucose and lactate were associated with the PSE meat, and the five biochemical parameters were found to be good indicators of PSE meat Discriminant function analysis (DFA) was able to clearly identify PSE meat using the five biochemical parameters as input data, and the class model is an effective diagnostic tool in pigs which can be used to detect the PSE meat and reduce economic loss for the company.

  10. Refractive lenses as a beam diagnostics tool for high-energy synchrotron radiation

    CERN Document Server

    Weitkamp, T; Drakopoulos, M; Souvorov, A; Snigireva, I; Snigirev, A; Guenzler, F; Schrör, C; Lengeler, B

    2001-01-01

    Parabolic compound refractive lenses (CRLs) for hard X rays have been used to image the electron beam at undulator and bending-magnet beamlines at the ESRF. The measurements yield the shape and size of the synchrotron radiation source, and show that CRLs with paraboloid surface shape can be used as a beam diagnostics tool at high-energy electron storage rings. The optical resolution of the imaging setup can be as small as 4 mu m. This is smaller than typical values of the electron beam size in third-generation synchrotron sources. We report measurements at two ESRF beamlines and resolution calculations taking into account the properties of synchrotron radiation and the transmission characteristics of the CRLs used.

  11. Supramaximal Stimulus Intensity as a Diagnostic Tool in Chronic Demyelinating Neuropathy

    Directory of Open Access Journals (Sweden)

    Vivien Parker

    2016-01-01

    Full Text Available Objective. The ability to correctly identify chronic demyelinating neuropathy can have important therapeutic and prognostic significance. The stimulus intensity value required to obtain a supramaximal compound muscle action potential amplitude is a commonly acquired data point that has not been formally assessed as a diagnostic tool in routine nerve conduction studies to identify chronic neuropathies. We postulated that this value was significantly elevated in chronic demyelinating neuropathy. Methods. We retrospectively reviewed electrophysiology laboratory records to compare the stimulus intensity values recorded during median and ulnar motor nerve conduction studies. The groups studied included normal controls (n=42 and the following diagnostic categories: chronic inflammatory demyelinating neuropathy (CIDP (n=20, acquired inflammatory demyelinating neuropathy (AIDP (n=13, Charcot Marie Tooth (CMT type 1 or 4C (n=15, carpal tunnel syndrome (CTS (n=11, and amyotrophic lateral sclerosis (ALS (n=18. Results. Supramaximal intensities were significantly higher in patients with CMT (median nerve: 43.4 mA and CIDP (median nerve: 38.9 mA, whereas values similar to normal controls (median nerve: 25.3 mA were obtained in ALS, CTS, and AIDP. Conclusions. Supramaximal stimulus intensity may be used as an additional criterion to identify the pathophysiology of neuropathy. We postulate that endoneurial hypertrophic changes may increase electrical impedance and thus the threshold of excitation at nodes of Ranvier.

  12. MicroRNAs: A Puzzling Tool in Cancer Diagnostics and Therapy.

    Science.gov (United States)

    D'Angelo, Barbara; Benedetti, Elisabetta; Cimini, Annamaria; Giordano, Antonio

    2016-11-01

    MicroRNAs (miRNAs) constitute a dominating class of small RNAs that regulate diverse cellular functions. Due the pivotal role of miRNAs in biological processes, a deregulated miRNA expression is likely involved in human cancers. MicroRNAs possess tumor suppressor capability, as well as display oncogenic characteristics. Interestingly, miRNAs exist in various biological fluids as circulating entities. Changes in the profile of circulating miRNAs are indicative of pathophysiological conditions in human cancer. This concept has led to consider circulating miRNAs valid biomarkers in cancer diagnostics. Furthermore, current research promotes the use of miRNAs as a target in cancer therapy. However, miRNAs are an evolving research field. Although miRNAs have been demonstrated to be potentially valuable tools both in cancer diagnosis and treatment, a greater effort should be made to improve our understanding of miRNAs biology. This review describes the biology of microRNAs, emphasizing on the use of miRNAs in cancer diagnostics and therapy.

  13. Supramaximal Stimulus Intensity as a Diagnostic Tool in Chronic Demyelinating Neuropathy

    Science.gov (United States)

    Parker, Vivien; Warman Chardon, Jodi; Mills, Julie; Goldsmith, Claire; Bourque, Pierre R.

    2016-01-01

    Objective. The ability to correctly identify chronic demyelinating neuropathy can have important therapeutic and prognostic significance. The stimulus intensity value required to obtain a supramaximal compound muscle action potential amplitude is a commonly acquired data point that has not been formally assessed as a diagnostic tool in routine nerve conduction studies to identify chronic neuropathies. We postulated that this value was significantly elevated in chronic demyelinating neuropathy. Methods. We retrospectively reviewed electrophysiology laboratory records to compare the stimulus intensity values recorded during median and ulnar motor nerve conduction studies. The groups studied included normal controls (n = 42) and the following diagnostic categories: chronic inflammatory demyelinating neuropathy (CIDP) (n = 20), acquired inflammatory demyelinating neuropathy (AIDP) (n = 13), Charcot Marie Tooth (CMT) type 1 or 4C (n = 15), carpal tunnel syndrome (CTS) (n = 11), and amyotrophic lateral sclerosis (ALS) (n = 18). Results. Supramaximal intensities were significantly higher in patients with CMT (median nerve: 43.4 mA) and CIDP (median nerve: 38.9 mA), whereas values similar to normal controls (median nerve: 25.3 mA) were obtained in ALS, CTS, and AIDP. Conclusions. Supramaximal stimulus intensity may be used as an additional criterion to identify the pathophysiology of neuropathy. We postulate that endoneurial hypertrophic changes may increase electrical impedance and thus the threshold of excitation at nodes of Ranvier. PMID:27413732

  14. Tooth mineralization stages as a diagnostic tool for assessment of skeletal maturity.

    Science.gov (United States)

    Surendran, Sharmila; Thomas, Eapen

    2014-01-01

    The objective of this study was to determine whether dental calcification can be used as a first-level diagnostic tool for assessment of skeletal maturity. A total of 150 healthy subjects (79 boys, 71 girls; mean age, 12.19 ± 2.03 years; range, 8-16 years) were enrolled in the study. Dental maturity was assessed through the calcification stages from panoramic radiographs of the mandibular canine, the first and second premolars, and the second molar. Determination of skeletal maturity was according to the modified middle phalanx of third finger (MP3) stages method on digital radiographs. Diagnostic ability was evaluated according to the dental maturation stages for each tooth for identification of the MP3 stages and the growth phases (prepubertal, pubertal, postpubertal) using positive likelihood ratios. Dental maturation stage E of the first premolars and the combination of canine stage F, first premolar stage E, second premolar stage E, and second molar stage D (FEED) gave the highest values for identification of the prepubertal growth phase, and stage H of the second molar had the highest value for identification of the postpubertal growth phase. Dental maturation assessment is only useful for diagnosis of the prepubertal and postpubertal growth phases. Copyright © 2014 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.

  15. Testicular fine needle aspiration as a diagnostic tool in non-obstructive azoospermia

    Institute of Scientific and Technical Information of China (English)

    A. Bettella; A. Ferlin; M. Menegazzo; M. Ferigo; I. M. Tavolini; P. F. Bassi; C. Foresta

    2005-01-01

    Aim: To report the fine needle aspiration cytology (FNAC) of the testes used as a diagnostic tool in non-obstructive azoospermic patients. Methods: One hundred and twenty-five non-obstructive azoospermic male candidates to intracytoplasmic sperm injetion (ICSI) were analysed for follicle stimulating hormone (FSH), luteinizing hormone (LH), testosterone and inhibin B plasma levels. They were classified into three groups on the basis of FNAC: 1) Sertoli cell-only syndrome (SCOS) (70); 2) severe hypospermatogenesis (42); and 3) maturation arrest (13). Then, all men underwent testicular sperm extraction (TESE) for sperm recovery for ICSI. Results: Mature spermatozoa were detected by FNAC in 24 of 42 men with severe hypospermatogenesis and nine of 13 men with maturation arrest;while they were retrieved by TESE in 29 of 70 men with SCOS, 35 of 42 men with severe hypospermatogenesis (including the 24 by FNAC) and 10 of 13 men with maturation arrest (including the nine by FNAC). The sensitivity and specificity of FNAC were 44.6 % and 100 %, respectively. There was no difference on testicular volume and hormonal parameters in men with and without sperm retrieved. Conclusion: These findings suggest that FNAC may be a simple and valid diagnostic parameter in non-obstructive azoospermic men and it may represent a valid positive prognostic parameter for sperm recovery at TESE.

  16. T-scan III system diagnostic tool for digital occlusal analysis in orthodontics - a modern approach.

    Science.gov (United States)

    Trpevska, Vesna; Kovacevska, Gordana; Benedeti, Alberto; Jordanov, Bozidar

    2014-01-01

    This systematic literature review was performed to establish the mechanism, methodology, characteristics, clinical application and opportunities of the T-Scan III System as a diagnostic tool for digital occlusal analysis in different fields of dentistry, precisely in orthodontics. Searching of electronic databases, using MEDLINE and PubMed, hand searching of relevant key journals, and screening of reference lists of included studies with no language restriction was performed. Publications providing statistically examined data were included for systematic review. Twenty potentially relevant Randomized Controlled Trials (RCTs) were identified. Only ten met the inclusion criteria. The literature demonstrates that using digital occlusal analysis with T-Scan III System in orthodontics has significant advantage with regard to the capability of measuring occlusal parameters in static positions and during dynamic of the mandible. Within the scope of this systematic review, there is evidence to support that T-Scan system is rapid and accurate in identifying the distribution of the tooth contacts and it shows great promise as a clinical diagnostic screening device for occlusion and for improving the occlusion after various dental treatments. Additional clinical studies are required to advance the indication filed of this system. Importance of using digital occlusal T-Scan analysis in orthodontics deserves further investigation.

  17. Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience

    OpenAIRE

    C Alexander Valencia; Ammar eHusami; Jennifer eHolle; Johnson, Judith A; Yaping eQian; Abhinav eMathur; Chao eWei; Subba Rao Indugula; Fanggeng eZou; Haiying eMeng; Lijun eWang; Xia eLi; Rachel eFisher; Tony eTan; Amber eHogart Begtrup

    2015-01-01

    Background There are limited reports of the use of whole exome sequencing (WES) as a clinical diagnostic tool. Moreover, there are no reports addressing the cost burden associated with genetic tests performed prior to WES. Objective We demonstrate the performance characteristics of WES in a pediatric setting by describing our patient cohort, calculating the diagnostic yield, and detailing the patients for whom clinical management was altered. Moreover, we examined the potential cos...

  18. The Signal Data Explorer: A high performance Grid based signal search tool for use in distributed diagnostic applications

    OpenAIRE

    2006-01-01

    We describe a high performance Grid based signal search tool for distributed diagnostic applications developed in conjunction with Rolls-Royce plc for civil aero engine condition monitoring applications. With the introduction of advanced monitoring technology into engineering systems, healthcare, etc., the associated diagnostic processes are increasingly required to handle and consider vast amounts of data. An exemplar of such a diagnosis process was developed during the DAME project, which b...

  19. Web-based tools for quality assurance and radiation protection in diagnostic radiology.

    Science.gov (United States)

    Moores, B M; Charnock, P; Ward, M

    2010-01-01

    Practical and philosophical aspects of radiation protection in diagnostic radiology have changed very little over the past 50 y even though patient doses have continued to rise significantly in this period. This rise has been driven by technological developments, such as multi-slice computed tomography, that have been able to improve diagnostic accuracy but not necessarily provide the same level of risk-benefit to all patients or groups of patients given the dose levels involved. Can practical radiation protection strategies hope to keep abreast of these ongoing developments? A project was started in 1992 in Liverpool that aimed to develop IT driven quality assurance (QA)/radiation protection software tools based upon a modular quality assurance dose data system. One of the modules involved the assessment of the patient entrance surface air kerma (ESAK) for an X-ray examination that was based upon the use of calibrated X-ray tube exposure factors to calculate ESAK as well as collecting appropriate patient details (age, sex, weight, thickness etc). The package also contained modules for logging all necessary equipment performance QA data. This paper will outline the experience gained with this system through its transition from a local application on a stand alone PC within the department to the current web-based approach. Advantages of a web-based approach to delivering such an application as well as centrally storing data originating on many hospital sites will be discussed together with the scientific support processes that can be developed with such a system. This will include local, national and international considerations. The advantages of importing radiographic examination details directly from other electronic storage systems such as a hospital's radiology information system will be presented together with practical outcomes already achieved. This will include the application of statistical techniques to the very large data sets generated. The development

  20. Serum tumour markers as a diagnostic and prognostic tool in Libyan breast cancer.

    Science.gov (United States)

    Elfagieh, Mohamed; Abdalla, Fathi; Gliwan, Asma; Boder, Jamela; Nichols, Wafa; Buhmeida, Abdelbaset

    2012-12-01

    Results from studies on efficacy of carcinoembryonic antigen (CEA), carbohydrate antigen 15.3 (CA 15.3) and thymidine kinase (TK1) as diagnostic and prognostic tools for primary breast cancer (BC) have presented conflicting results, and usefulness of these markers for clinical use in BC remains unclear. The aim of this study is to evaluate potential of concentration of the sera CEA, CA15.3 and TK1 peptides' use as markers in the diagnosis and prognosis of breast lesions of Libyan patients. Serum tumour markers were studied in 20 healthy subjects, 30 patient with benign lesion diseases and 50 patients with histologically confirmed BC diagnosed at the National Cancer Institute (NCI), Misurata, Libya during the period 2005-2009. The concentrations of the BC patients' cutoff points used for diagnostic and prognostic sensitivity were 8.82 ng/ml, 35.57 U/ml and 32.57 U/mg/protein for CEA, CA15.3 and TK1, respectively. Increased CEA (>8.82 ng/ml), CA 15.3 (>35.57 U/ml) and TK1 (>32.57 U/mg/protein) concentrations were found in 62 %, 70 % and 78 % of the BC patients, respectively. For all three tumour markers, increased concentrations correlated increased tumour size and nodal involvement. Significantly higher serum TK1 levels were found in patients with advanced disease (p < 0.0001) and TK1 levels also correlated with disease-specific survival (DSS, p < 0.07). The combined data set of the three markers' data from three markers increased the diagnostic sensitivity to 90 %. The serum marker analysis for CEA, CA 15.3, and S-TK1 concentrations is shown to be a useful tool for identification of malignant cases in our BC population and for the prognostic evaluation of patients with primary BC. Increased concentrations of the markers were also observed to be higher in patients with advanced tumours and indicative of the development of distant metastasis.

  1. ADHD and Present Hedonism: time perspective as a potential diagnostic and therapeutic tool

    Science.gov (United States)

    Weissenberger, S; Klicperova-Baker, M; Zimbardo, P; Schonova, K; Akotia, D; Kostal, J; Goetz, M; Raboch, J; Ptacek, R

    2016-01-01

    The article draws primarily from the behavioral findings (mainly psychiatric and psychological observations) and points out the important relationships between attention-deficit/hyperactivity disorder (ADHD) symptoms and time orientation. Specifically, the authors argue that there is a significant overlap between the symptoms of ADHD and Present Hedonism. Present Hedonism is defined by Zimbardo’s time perspective theory and assessed by Zimbardo Time Perspective Inventory. Developmental data on Present Hedonism of males and females in the Czech population sample (N=2201) are also presented. The hypothesis of relationship between ADHD and Present Hedonism is mainly derived from the prevalence of addictive behavior (mainly excessive Internet use, alcohol abuse, craving for sweets, fatty foods, and fast foods), deficits in social learning, and increased aggressiveness both in ADHD and in the population scoring high on Present Hedonism in the Zimbardo Time Perspective Inventory. We conclude that Zimbardo’s time perspective offers both: 1) a potential diagnostic tool – the Zimbardo Time Perspective Inventory, particularly its Present Hedonism scale, and 2) a promising preventive and/or therapeutic approach by the Time Perspective Therapy. Time Perspective Therapy has so far been used mainly to treat past negative trauma (most notably, posttraumatic stress disorder); however, it also has value as a potential therapeutic tool for possible behavioral compensation of ADHD. PMID:27895485

  2. ADHD and Present Hedonism: time perspective as a potential diagnostic and therapeutic tool.

    Science.gov (United States)

    Weissenberger, S; Klicperova-Baker, M; Zimbardo, P; Schonova, K; Akotia, D; Kostal, J; Goetz, M; Raboch, J; Ptacek, R

    2016-01-01

    The article draws primarily from the behavioral findings (mainly psychiatric and psychological observations) and points out the important relationships between attention-deficit/hyperactivity disorder (ADHD) symptoms and time orientation. Specifically, the authors argue that there is a significant overlap between the symptoms of ADHD and Present Hedonism. Present Hedonism is defined by Zimbardo's time perspective theory and assessed by Zimbardo Time Perspective Inventory. Developmental data on Present Hedonism of males and females in the Czech population sample (N=2201) are also presented. The hypothesis of relationship between ADHD and Present Hedonism is mainly derived from the prevalence of addictive behavior (mainly excessive Internet use, alcohol abuse, craving for sweets, fatty foods, and fast foods), deficits in social learning, and increased aggressiveness both in ADHD and in the population scoring high on Present Hedonism in the Zimbardo Time Perspective Inventory. We conclude that Zimbardo's time perspective offers both: 1) a potential diagnostic tool - the Zimbardo Time Perspective Inventory, particularly its Present Hedonism scale, and 2) a promising preventive and/or therapeutic approach by the Time Perspective Therapy. Time Perspective Therapy has so far been used mainly to treat past negative trauma (most notably, posttraumatic stress disorder); however, it also has value as a potential therapeutic tool for possible behavioral compensation of ADHD.

  3. ESMValTool (v1.0) - a community diagnostic and performance metrics tool for routine evaluation of Earth system models in CMIP

    Science.gov (United States)

    Eyring, Veronika; Righi, Mattia; Lauer, Axel; Evaldsson, Martin; Wenzel, Sabrina; Jones, Colin; Anav, Alessandro; Andrews, Oliver; Cionni, Irene; Davin, Edouard L.; Deser, Clara; Ehbrecht, Carsten; Friedlingstein, Pierre; Gleckler, Peter; Gottschaldt, Klaus-Dirk; Hagemann, Stefan; Juckes, Martin; Kindermann, Stephan; Krasting, John; Kunert, Dominik; Levine, Richard; Loew, Alexander; Mäkelä, Jarmo; Martin, Gill; Mason, Erik; Phillips, Adam S.; Read, Simon; Rio, Catherine; Roehrig, Romain; Senftleben, Daniel; Sterl, Andreas; van Ulft, Lambertus H.; Walton, Jeremy; Wang, Shiyu; Williams, Keith D.

    2016-05-01

    A community diagnostics and performance metrics tool for the evaluation of Earth system models (ESMs) has been developed that allows for routine comparison of single or multiple models, either against predecessor versions or against observations. The priority of the effort so far has been to target specific scientific themes focusing on selected essential climate variables (ECVs), a range of known systematic biases common to ESMs, such as coupled tropical climate variability, monsoons, Southern Ocean processes, continental dry biases, and soil hydrology-climate interactions, as well as atmospheric CO2 budgets, tropospheric and stratospheric ozone, and tropospheric aerosols. The tool is being developed in such a way that additional analyses can easily be added. A set of standard namelists for each scientific topic reproduces specific sets of diagnostics or performance metrics that have demonstrated their importance in ESM evaluation in the peer-reviewed literature. The Earth System Model Evaluation Tool (ESMValTool) is a community effort open to both users and developers encouraging open exchange of diagnostic source code and evaluation results from the Coupled Model Intercomparison Project (CMIP) ensemble. This will facilitate and improve ESM evaluation beyond the state-of-the-art and aims at supporting such activities within CMIP and at individual modelling centres. Ultimately, we envisage running the ESMValTool alongside the Earth System Grid Federation (ESGF) as part of a more routine evaluation of CMIP model simulations while utilizing observations available in standard formats (obs4MIPs) or provided by the user.

  4. ESMValTool (v1.0 – a community diagnostic and performance metrics tool for routine evaluation of Earth System Models in CMIP

    Directory of Open Access Journals (Sweden)

    V. Eyring

    2015-09-01

    Full Text Available A community diagnostics and performance metrics tool for the evaluation of Earth System Models (ESMs has been developed that allows for routine comparison of single or multiple models, either against predecessor versions or against observations. The priority of the effort so far has been to target specific scientific themes focusing on selected Essential Climate Variables (ECVs, a range of known systematic biases common to ESMs, such as coupled tropical climate variability, monsoons, Southern Ocean processes, continental dry biases and soil hydrology-climate interactions, as well as atmospheric CO2 budgets, tropospheric and stratospheric ozone, and tropospheric aerosols. The tool is being developed in such a way that additional analyses can easily be added. A set of standard namelists for each scientific topic reproduces specific sets of diagnostics or performance metrics that have demonstrated their importance in ESM evaluation in the peer-reviewed literature. The Earth System Model Evaluation Tool (ESMValTool is a community effort open to both users and developers encouraging open exchange of diagnostic source code and evaluation results from the CMIP ensemble. This will facilitate and improve ESM evaluation beyond the state-of-the-art and aims at supporting such activities within the Coupled Model Intercomparison Project (CMIP and at individual modelling centres. Ultimately, we envisage running the ESMValTool alongside the Earth System Grid Federation (ESGF as part of a more routine evaluation of CMIP model simulations while utilizing observations available in standard formats (obs4MIPs or provided by the user.

  5. Toxicogenomics in vitro as an alternative tool for safety evaluation of petroleum substances and PAHs with regard to prenatal developmental toxicity

    NARCIS (Netherlands)

    Tsitou, Polyxeni; Heneweer, Marjoke; Boogaard, P.J.

    2015-01-01

    The REACH legislation requires chemicals - including petroleum substances - that are put on the EU market in quantities greater than 1000 tonnes/year, to be tested for prenatal developmental toxicity. This will require large numbers of animals since prenatal development toxicity testing is animal

  6. Validity of magnetic resonance arthrography as a diagnostic tool in femoroacetabular impingement syndrome.

    Science.gov (United States)

    González Gil, A B; Llombart Blanco, R; Díaz de Rada, P

    2015-01-01

    Femoroacetabular impingement (FAI) is one of the main causes of hip pain in young adult and a contributory factor for development of early primary osteoarthritis. An accurate clinical diagnosis, supported by imaging studies, is important to determine the best treatment for the patient. The aim of this study is to determine the diagnostic correlation between direct magnetic resonance imaging (MRI) arthrography and the arthroscopic findings. A review was performed on a series of 36 patients diagnosed with FAI, and who underwent hip arthroscopy surgery between 2009 and 2012. All of them had a direct MRI arthrography performed in our hospital. The presence of labral lesions, CAM deformity, and acetabular and femoral cartilage damage, were evaluated in both imaging techniques. After analysing the results and taking the hip arthroscopy as 'gold standard', a sensitivity of 87% and a specificity of 77% were obtained, with a PPV of 87% for the diagnosis of labral lesions by direct MR arthrography. The specificity for CAM deformity was 100%, with a sensitivity of 79% and PPV of 100%. For chondral disorders lower values were found for both acetabulum and femoral head. For acetabular lesions the sensitivity was 78.5%, and specificity was 82% with a PPV of 73% and NPV of 80%. For femoral lesions, there was a sensitivity of 71.5%, a specificity of 73%, with a PPV of 62.5% and NPV of 80%. Due to the high sensitivity for the detection of labral lesions and the high specificity to detect CAM deformity, hip MR arthrography is a useful diagnostic tool for femoroacetabular impingement. Copyright © 2014 SECOT. Published by Elsevier Espana. All rights reserved.

  7. Metabolic and Genetic Screening of Electromagnetic Hypersensitive Subjects as a Feasible Tool for Diagnostics and Intervention

    Directory of Open Access Journals (Sweden)

    Chiara De Luca

    2014-01-01

    Full Text Available Growing numbers of “electromagnetic hypersensitive” (EHS people worldwide self-report severely disabling, multiorgan, non-specific symptoms when exposed to low-dose electromagnetic radiations, often associated with symptoms of multiple chemical sensitivity (MCS and/or other environmental “sensitivity-related illnesses” (SRI. This cluster of chronic inflammatory disorders still lacks validated pathogenetic mechanism, diagnostic biomarkers, and management guidelines. We hypothesized that SRI, not being merely psychogenic, may share organic determinants of impaired detoxification of common physic-chemical stressors. Based on our previous MCS studies, we tested a panel of 12 metabolic blood redox-related parameters and of selected drug-metabolizing-enzyme gene polymorphisms, on 153 EHS, 147 MCS, and 132 control Italians, confirming MCS altered (P<0.05–0.0001 glutathione-(GSH, GSH-peroxidase/S-transferase, and catalase erythrocyte activities. We first described comparable—though milder—metabolic pro-oxidant/proinflammatory alterations in EHS with distinctively increased plasma coenzyme-Q10 oxidation ratio. Severe depletion of erythrocyte membrane polyunsaturated fatty acids with increased ω6/ω3 ratio was confirmed in MCS, but not in EHS. We also identified significantly (P=0.003 altered distribution-versus-control of the CYP2C19*1/*2 SNP variants in EHS, and a 9.7-fold increased risk (OR: 95% C.I.=1.3–74.5 of developing EHS for the haplotype (nullGSTT1 + (nullGSTM1 variants. Altogether, results on MCS and EHS strengthen our proposal to adopt this blood metabolic/genetic biomarkers’ panel as suitable diagnostic tool for SRI.

  8. Human prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Filkins, K.; Russo, R.J.

    1985-01-01

    The multiauthor text is written as a ''guide to rationalize and clarify certain aspects of diagnosis, general counseling and intervention'' for ''health professionals who provide care to pregnant women.'' The text is not aimed at the ultrasonographer but rather at the physicians who are clinically responsible for patient management. Chapters of relevance to radiologists include an overview of prenatal screening and counseling, diagnosis of neural tube defects, ultrasonographic (US) scanning of fetal disorders in the first and second trimesters of pregnancy, US scanning in the third trimester, multiple gestation and selective termination, fetal echo and Doppler studies, and fetal therapy. Also included are overviews of virtually all currently utilized prenatal diagnostic techniques including amniocentesis, fetal blood sampling, fetoscopy, recombinant DNA detection of hemoglobinopathies, chorionic villus sampling, embryoscopy, legal issues, and diagnosis of Mendelian disorders by DNA analysis.

  9. Turkish validation of the premature ejaculation diagnostic tool and its association with intravaginal ejaculatory latency time.

    Science.gov (United States)

    Serefoglu, E C; Cimen, H I; Ozdemir, A T; Symonds, T; Berktas, M; Balbay, M D

    2009-01-01

    There are uncertain issues on the diagnostic methods of premature ejaculation (PE). The premature ejaculation diagnostic tool (PEDT) was developed to systematically apply the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) criteria in diagnosing PE and the aim of this study is to carry out the Turkish validation of the PEDT and to evaluate its association with intravaginal ejaculatory latency time (IELT). A total of 94 patients with a self-reported complaint of PE and 88 men without PE were enrolled into the study and requested to complete the nine-item PEDT, which was translated into Turkish. The patients were also requested to measure IELT. All participants were requested to come for a second visit to assess the PEDT's retest reliability; data from 78 men in the PE group and 69 men in the control group were collected. The IELT data of 35 patients were also recorded. The mean age of the PE group and the control group were 39.4+/-9.7 (24-65) and 30.1+/-5.7 (20-56), respectively, (P=0.068). Among the patients in the PE group, 24 (68.5%) reported life-long PE, whereas 11 (31.5%) reported acquired PE. The geometric mean IELT of the PE group was 59.7+/-46.2 (6.5-197.7) s. The number of men reporting IELTs of 2 min were 20 (57.1%), 11 (31.5) and 4 (11.4%), respectively. The factor analysis assessment showed that the five-item combination (questions 1, 2, 3, 4 and 8) explained 74.4% of the variance, there were no other combinations that explained the variance more effectively. Cronbach's alpha score of five-item combination was calculated as 0.77, showing adequate internal consistency. The overall Cronbach's alpha score did not increase if any item combination was deleted. The test-retest correlation coefficients of each item were higher than 0.80 and the correlation coefficient of the total score was 0.90. The PEDT and IELT showed an adequate correlation (rho=0.44). As a conclusion, the validated five-item Turkish version of PEDT is a

  10. Fitting cognitive diagnostic assessment to the Concept Assessment Tool for Statics (CATS)

    Science.gov (United States)

    Santiago Roman, Aidsa Ivette

    A concept inventory (CI) is a multiple-choice instrument designed to evaluate whether a person has an accurate, working knowledge of a specific set of concepts. An important role of CI's is to provide instructors with clues about the pre-conceptions (or misconceptions) their students hold which may be actively interfering with learning. Only a few engineering CI's have been able to be applied successfully in instructional settings, due in part to statistical analysis techniques that are typically applied to the instrument. These techniques include psychometric interpretative techniques such as Classical Test Theory (CTT) and Item Response Theory (IRT), which measure the item performance data of the CI's. However, these strategies do not measure students' cognitive abilities (misconceptions). To begin filing this gap, the objective of this study was to determine the applicability of a new statistical method called the Fusion Model to the Concept Assessment Tool for Statics (CATS) among engineering students from various US universities. Specifically, the research question that guided this study was: Can the Fusion Model be appropriately used with the Cognitive Assessment Tool for Statics (CATS) to diagnostically measure students' cognitive understanding of Statics concepts? In this study, the Fusion Model was applied to CATS through a four-phase procedure. Each phase had a specific objective that was tied to the primary research question. The analysis performed resulted in the generation of a Q-matrix that relates a set of cognitive attributes to specific questions. These attributes were determined using the expertise of the author of this study and most importantly the developer of CATS. Results of the study indicated that CATS has high capability to be used as diagnostic assessment, and also identified items (questions) that needed to be revised because they were not able to discriminate between examinees who were masters and non-masters of the specified attributes

  11. Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial.

    Science.gov (United States)

    Wapner, Ronald J; Driscoll, Deborah A; Simpson, Joe Leigh

    2012-04-01

    Cytogenetic microarray analysis (CMA) in prenatal testing detects chromosome abnormalities and new genetic syndromes that would be missed by conventional cytogenetics and has the potential to significantly enhance prenatal genetic evaluation. A large Eunice Kennedy Shriver National Institute Of Child Health and Human Development (NICHD)-sponsored multicentered trial to assess the role of CMA as a primary prenatal diagnostic tool has been completed, and results will soon be available. Integration of this technology into clinical care will require thoughtful changes in patient counseling. Here, we examine four cases, all ascertained in the NICHD prenatal microarray study, to illustrate the challenges and subtleties of genetic counseling required with prenatal CMA testing. Although the specifics of each case are distinct, the underlying genetic principles of uncertainty, variable expressivity, and lack of precise genotype-phenotype correlation are well known and already part of prenatal counseling. Counselor and practitioner education will need to include both the science of interpreting array findings as well as development of improved approaches to uncertainty. A team approach to interpretation will need to be developed, as will standardized guidelines by professional organizations and laboratories. Of equal import is additional research into patient attitudes and desires, and a better understanding of the full phenotypic spectrum of copy number variants discovered in utero.

  12. Development and Assessment of a Diagnostic Tool to Identify Organic Chemistry Students' Alternative Conceptions Related to Acid Strength

    Science.gov (United States)

    McClary, LaKeisha M.; Bretz, Stacey Lowery

    2012-01-01

    The central goal of this study was to create a new diagnostic tool to identify organic chemistry students' alternative conceptions related to acid strength. Twenty years of research on secondary and college students' conceptions about acids and bases has shown that these important concepts are difficult for students to apply to qualitative problem…

  13. A Quasi-Universal Nonword Repetition Task as a Diagnostic Tool for Bilingual Children Learning Dutch as a Second Language

    Science.gov (United States)

    Boerma, Tessel; Chiat, Shula; Leseman, Paul; Timmermeister, Mona; Wijnen, Frank; Blom, Elma

    2015-01-01

    Purpose: This study evaluated a newly developed quasi-universal nonword repetition task (Q-U NWRT) as a diagnostic tool for bilingual children with language impairment (LI) who have Dutch as a 2nd language. The Q-U NWRT was designed to be minimally influenced by knowledge of 1 specific language in contrast to a language-specific NWRT with which it…

  14. Development and Assessment of a Diagnostic Tool to Identify Organic Chemistry Students' Alternative Conceptions Related to Acid Strength

    Science.gov (United States)

    McClary, LaKeisha M.; Bretz, Stacey Lowery

    2012-01-01

    The central goal of this study was to create a new diagnostic tool to identify organic chemistry students' alternative conceptions related to acid strength. Twenty years of research on secondary and college students' conceptions about acids and bases has shown that these important concepts are difficult for students to apply to qualitative problem…

  15. The BOUT Project; Validation and Benchmark of BOUT Code and Experimental Diagnostic Tools for Fusion Boundary Turbulence

    Institute of Scientific and Technical Information of China (English)

    徐学桥

    2001-01-01

    A boundary plasma turbulence code BOUT is presented. The preliminary encour aging results have been obtained when comparing with probe measurements for a typical Ohmic discharge in HT-7 tokamak. The validation and benchmark of BOUT code and experimental diagnostic tools for fusion boundary plasma turbulence is proposed.

  16. Evaluation of QUADAS, a tool for the quality assessment of diagnostic accuracy studies

    Directory of Open Access Journals (Sweden)

    Bossuyt Patrick NM

    2006-03-01

    Full Text Available Abstract Background A quality assessment tool for diagnostic accuracy studies, named QUADAS, has recently been developed. Although QUADAS has been used in several systematic reviews, it has not been formally validated. The objective was to evaluate the validity and usefulness of QUADAS. Methods Three reviewers independently rated the quality of 30 studies using QUADAS. We assessed the proportion of agreements between each reviewer and the final consensus rating. This was done for all QUADAS items combined and for each individual item. Twenty reviewers who had used QUADAS in their reviews completed a short structured questionnaire on their experience of QUADAS. Results Over all items, the agreements between each reviewer and the final consensus rating were 91%, 90% and 85%. The results for individual QUADAS items varied between 50% and 100% with a median value of 90%. Items related to uninterpretable test results and withdrawals led to the most disagreements. The feedback on the content of the tool was generally positive with only small numbers of reviewers reporting problems with coverage, ease of use, clarity of instructions and validity. Conclusion Major modifications to the content of QUADAS itself are not necessary. The evaluation highlighted particular difficulties in scoring the items on uninterpretable results and withdrawals. Revised guidelines for scoring these items are proposed. It is essential that reviewers tailor guidelines for scoring items to their review, and ensure that all reviewers are clear on how to score studies. Reviewers should consider whether all QUADAS items are relevant to their review, and whether additional quality items should be assessed as part of their review.

  17. AN ASSESSMENT OF ECHOCARDIOGRAPHY AS A DIAGNOSTIC TOOL FOR DILATED CARDIOMYOPATHY IN TURKEY (MELEAGRIS GALLOPAVO

    Directory of Open Access Journals (Sweden)

    Kwaku Gyenai

    2012-01-01

    Full Text Available Our understanding of the etiology of Dilated Cardiomyopathy (DCM, which affects about 5% of turkeys, is limited. This limitation may be due to the lack of an easy-to-use diagnostic tool with well-defined parameters and does not involve necropsy. This lack of a widely tested non-necropsy method makes it difficult for a large-scale study of the genetic factors that underlie DCM. Here, we Evaluated Echocardiography (ECHO for its ease and reliability for identifying DCM-affected turkeys from hatch to four weeks-of-age. The parameters evaluated included Left Ventricular Internal-Diastolic (LVIDd, Internal-Systolic Dimension (LVISd, Interventricular Septum End-Diastolic (IVSEd, Interventricular Septum End-Systolic (IVSEs, Left Ventricular Wall End-Systolic (LVWEs and Left Ventricular Wall End-Diastolic (LVWEd. To induce DCM, feed containing 700 ppm of Furazolidone (Fz was fed to turkey poults from one to 28 days-of-age. The LVIDd and LVISd were the most consistent indicators of DCM. Both parameters revealed differences between control and treatment poults of between 25 and 326% at the 4 ages at which ECHO measurements were taken. The average difference in LVIDd between control and poults fed Fz-containing diets ranged from 25% in one week-old to 80% in 4-week-old poults. At similar ages, average differences between control and poults fed Fz-containing diets in LVISd were 74 and 326% respectively. Necropsy of poults that survived to the end of the 4-week Fz-treatment confirmed these ECHO measurements in treatment and normal poults. Our data suggest that using LVIDd and LVISd as parameters make ECHO a reliable tool for identifying DCM in turkeys. "

  18. ADHD and Present Hedonism: time perspective as a potential diagnostic and therapeutic tool

    Directory of Open Access Journals (Sweden)

    Weissenberger S

    2016-11-01

    Full Text Available S Weissenberger,1 M Klicperova-Baker,2 P Zimbardo,3 K Schonova,1 D Akotia,1 J Kostal,2 M Goetz,4 J Raboch,1 R Ptacek1 1First Medical Faculty, Charles University, 2Institute of Psychology, Academy of Sciences of the Czech Republic, Praha, Czech Republic; 3Department of Psychology, Stanford University, Stanford, CA, USA; 4Second Faculty of Medicine, Department of Child Psychiatry, Charles University, Motol University Hospital, Praha, Czech RepublicAbstract: The article draws primarily from the behavioral findings (mainly psychiatric and psychological observations and points out the important relationships between attention-deficit/hyperactivity disorder (ADHD symptoms and time orientation. Specifically, the authors argue that there is a significant overlap between the symptoms of ADHD and Present Hedonism. Present Hedonism is defined by Zimbardo’s time perspective theory and assessed by Zimbardo Time Perspective Inventory. Developmental data on Present Hedonism of males and females in the Czech population sample (N=2201 are also presented. The hypothesis of relationship between ADHD and Present Hedonism is mainly derived from the prevalence of addictive behavior (mainly excessive Internet use, alcohol abuse, craving for sweets, fatty foods, and fast foods, deficits in social learning, and increased aggressiveness both in ADHD and in the population high on Present Hedonism. We conclude that Zimbardo’s time perspective offers both: 1 a potential diagnostic tool – the Zimbardo Time Perspective Inventory, particularly its Present Hedonism scale, and 2 a promising preventive and/or therapeutic approach by the Time Perspective Therapy. Time Perspective Therapy has so far been used mainly to treat past negative trauma (most notably, posttraumatic stress disorder; however, it also has value as a potential therapeutic tool for possible behavioral compensation of ADHD.Keywords: ADHD, time perspective, ZTPI, Zimbardo, addiction, alcoholism, delinquency

  19. Confocal laser scanning microscopy, a new in vivo diagnostic tool for schistosomiasis.

    Directory of Open Access Journals (Sweden)

    Carlos Fritzsche

    Full Text Available BACKGROUND: The gold standard for the diagnosis of schistosomiasis is the detection of the parasite's characteristic eggs in urine, stool, or rectal and bladder biopsy specimens. Direct detection of eggs is difficult and not always possible in patients with low egg-shedding rates. Confocal laser scanning microscopy (CLSM permits non-invasive cell imaging in vivo and is an established way of obtaining high-resolution images and 3-dimensional reconstructions. Recently, CLSM was shown to be a suitable method to visualize Schistosoma mansoni eggs within the mucosa of dissected mouse gut. In this case, we evaluated the suitability of CLSM to detect eggs of Schistosoma haematobium in a patient with urinary schistosomiasis and low egg-shedding rates. METHODOLOGY/PRINCIPAL FINDINGS: The confocal laser scanning microscope used in this study was based on a scanning laser system for imaging the retina of a living eye, the Heidelberg Retina Tomograph II, in combination with a lens system (image modality. Standard light cystoscopy was performed using a rigid cystoscope under general anaesthesia. The CLSM endoscope was then passed through the working channel of the rigid cystoscope. The mucosal tissue of the bladder was scanned using CLSM. Schistoma haematobium eggs appeared as bright structures, with the characteristic egg shape and typical terminal spine. CONCLUSION/SIGNIFICANCE: We were able to detect schistosomal eggs in the urothelium of a patient with urinary schistosomiasis. Thus, CLSM may be a suitable tool for the diagnosis of schistosomiasis in humans, especially in cases where standard diagnostic tools are not suitable.

  20. Neurofibromatosis type I (NFI) in Israeli families: Linkage analysis as a diagnostic tool

    Energy Technology Data Exchange (ETDEWEB)

    Elyakim, S.; Lerer, I.; Zlotogora, J.; Sagi, M.; Merin, S.; Abeliovich, D. [Hadassah Univ. Hospital, Jerusalem (Israel); Gelman-Kohan, Z. [Hebrew Univ. Hadassah Medical School, Rehovot (Israel)

    1994-12-01

    Linkage analysis of 18 neurofibromatosis type I (NFI) families was performed using intragenic and flanking polymorphic markers. The aims of the analysis were prenatal diagnosis of at-risk fetuses, and of asymptomatic individuals who were relatives of NFI patients. Prenatal diagnosis was performed in 9 pregnancies of 7 families; 5 fetuses were diagnosed as affected. In 6 families with an affected spouse, the request was to identify informative polymorphisms to be used in future pregnancies. Presymptomatic diagnosis was performed in 4 families. One individual, a brother of an NFI patient, was found to have Lisch nodules as the only NFI symptom. Linkage analysis indicated that if this person is a carrier of the NFI gene, he must be a product of intragenic crossover. In 2 individuals with a new NFI mutation, the origin of the NFI-bearing chromosomes was paternal. The same observation was noted by others. A summary of published cases shows that some 90% of the NFI-bearing chromosomes of patients with new mutations were of paternal origin. We therefore suggest that for the purpose of prenatal diagnosis in carriers of NFI new (and unidentified) mutations, the paternal chromosome will be considered as the NFI-bearing chromosome. 49 refs., 4 figs., 3 tabs.

  1. Development of a high-temperature diagnostics-while-drilling tool.

    Energy Technology Data Exchange (ETDEWEB)

    Chavira, David J.; Huey, David (Stress Engineering Services, Inc.); Hetmaniak, Chris (Stress Engineering Services, Inc.); Polsky, Yarom; King, Dennis K.; Jacobson, Ronald David; Blankenship, Douglas Alan; Knudsen, Steven Dell; Henfling, Joseph Anthony; Mansure, Arthur James

    2009-01-01

    The envisioned benefits of Diagnostics-While-Drilling (DWD) are based on the principle that high-speed, real-time information from the downhole environment will promote better control of the drilling process. Although in practice a DWD system could provide information related to any aspect of exploration and production of subsurface resources, the current DWD system provides data on drilling dynamics. This particular set of new tools provided by DWD will allow quicker detection of problems, reduce drilling flat-time and facilitate more efficient drilling (drilling optimization) with the overarching result of decreased drilling costs. In addition to providing the driller with an improved, real-time picture of the drilling conditions downhole, data generated from DWD systems provides researchers with valuable, high fidelity data sets necessary for developing and validating enhanced understanding of the drilling process. Toward this end, the availability of DWD creates a synergy with other Sandia Geothermal programs, such as the hard-rock bit program, where the introduction of alternative rock-reduction technologies are contingent on the reduction or elimination of damaging dynamic effects. More detailed descriptions of the rationale for the program and early development efforts are described in more detail by others [SAND2003-2069 and SAND2000-0239]. A first-generation low-temperature (LT) DWD system was fielded in a series of proof-of-concept tests (POC) to validate functionality. Using the LT system, DWD was subsequently used to support a single-laboratory/multiple-partner CRADA (Cooperative Research and Development Agreement) entitled Advanced Drag Bits for Hard-Rock Drilling. The drag-bit CRADA was established between Sandia and four bit companies, and involved testing of a PDC bit from each company [Wise, et al., 2003, 2004] in the same lithologic interval at the Gas Technology Institute (GTI) test facility near Catoosa, OK. In addition, the LT DWD system has

  2. Species-specific nested PCR as a diagnostic tool for Brucella ovis infection in rams

    Directory of Open Access Journals (Sweden)

    L.F. Costa

    2013-02-01

    Full Text Available The aim of the present study was to evaluate a species-specific nested PCR based on a previously described species-specific PCR for detection of B. ovis in semen and urine samples of experimentally infected rams. The performance of the species-specific nested PCR was compared with the results of a genus-specific PCR. Fourteen rams were experimentally infected with the Brucella ovis REO 198 strain and samples of semen and urine were collected every week up to 180 days post infection. Out of 83 semen samples collected, 42 (50.6% were positive for the species-specific nested PCR, and 23 (27.7% were positive for the genus-specific PCR. Out of 75 urine samples, 49 (65.3% were positive for the species-specific nested PCR, whereas 11 (14.6% were genus-specific PCR positive. Species-specific nested PCR was significantly more sensitive (P<0.001 than the genus-specific PCR in semen and urine from experimentally infected rams. In conclusion, the species-specific nested PCR developed in this study may be used as a diagnostic tool for the detection of B. ovis in semen and urine samples from suspected rams.

  3. Near-Infrared Spectroscopy as a Diagnostic Tool for Distinguishing between Normal and Malignant Colorectal Tissues

    Directory of Open Access Journals (Sweden)

    Hui Chen

    2015-01-01

    Full Text Available Cancer diagnosis is one of the most important tasks of biomedical research and has become the main objective of medical investigations. The present paper proposed an analytical strategy for distinguishing between normal and malignant colorectal tissues by combining the use of near-infrared (NIR spectroscopy with chemometrics. The successive projection algorithm-linear discriminant analysis (SPA-LDA was used to seek a reduced subset of variables/wavenumbers and build a diagnostic model of LDA. For comparison, the partial least squares-discriminant analysis (PLS-DA based on full-spectrum classification was also used as the reference. Principal component analysis (PCA was used for a preliminary analysis. A total of 186 spectra from 20 patients with partial colorectal resection were collected and divided into three subsets for training, optimizing, and testing the model. The results showed that, compared to PLS-DA, SPA-LDA provided more parsimonious model using only three wavenumbers/variables (4065, 4173, and 5758 cm−1 to achieve the sensitivity of 84.6%, 92.3%, and 92.3% for the training, validation, and test sets, respectively, and the specificity of 100% for each subset. It indicated that the combination of NIR spectroscopy and SPA-LDA algorithm can serve as a potential tool for distinguishing between normal and malignant colorectal tissues.

  4. Diagnosis of acute surgical abdomen - The best diagnostic tool to reach a final diagnosiscin

    Institute of Scientific and Technical Information of China (English)

    Wong CS; Al-Ajami AK; Boshahri M; Naqvi SA

    2012-01-01

    Objective: To evaluate the best diagnostic tool (clinical, radiological, laboratory, or endoscopy) used to reach a final diagnosis of four most common presentations of acute abdomen to the surgical unit in the Limerick University Hospital, Limerick, Ireland. Methods: Data was analyzed retrospectively of prospective collected data of all patients who had been admitted at a single academic institution from July 2011 till September 2011. Radiology, operating theatre and histopathology, haematology and endoscopy databases were searched from the Hospital Inpatient Enquiry (HIPE) department for patients who had presented with acute abdominal pain. Patients’ charts were searched manually and final diagnosis of each patient was recorded. Results: Out of 30 confirmed final diagnosis of appendicitis or appendicular mass, 9/30 (30.0%) were diagnosed with radiological (either on ultrasonography or CT scan). The remaining 21 cases (70.0%) were diagnosed clinically. Majority cases of diverticulitis 16/22 (72.7%) was diagnosed radiologically compared to only 6/22 (27.3%) of those confirmed by endoscopy. All diagnosis of gallstone-related diseases (cholecytitis, biliary colic, or cholelithiasis and/or choledocholithiasis) and bowel obstruction were confirmed by radiological investigation. Conclusions: Appendicitis can be accurately diagnosed clinically based on history and clinical examination alone. Diagnosis of diverticular disease, gallstone disease, and bowel obstruction further requires radiology intervention to confirm the provisional diagnosis.

  5. Nasal and oral snoring endoscopy: novel and promising diagnostic tools in OSAS patients.

    Science.gov (United States)

    Lovato, Andrea; Kotecha, Bhik; Vianello, Andrea; Giacomelli, Luciano; Staffieri, Alberto; Marchese-Ragona, Rosario

    2015-07-01

    The aim of the present study was to investigate if any of the three awake procedures [fiberoptic nasopharyngoscopy with modified Müller Maneuver (FNMM), nasal snoring endoscopy (NSE), or oral snoring endoscopy (OSE)] could efficiently predict the grade or pattern of upper airway (UA) collapse found with drug-induced sleep endoscopy (DISE), which is considered by many authors as the current gold standard in optimizing obstructive sleep apnea syndrome (OSAS) patient selection for UA surgery. Twenty consecutive patients (simple snorers and OSAS patients) were studied with FNMM, NSE, OSE, and DISE. The inter-test agreement was evaluated with Cohen's kappa coefficient (κ). In the current series, we found that NSE and OSE were better than FNMM in predicting the pattern of collapse found with DISE. A significant pattern agreement between NSE and DISE was present in all sub-sites, and the agreement was measured with a scale proposed by Landis and Koch as: moderate in velo- and oropharynx (κ = 0.52, p = 0.001, and κ = 0.47, p = 0.003, respectively), and substantial in hypopharynx (κ = 0.63, p DISE, the pattern agreement was almost perfect at oropharyngeal level (κ = 0.82, p DISE only at oropharyngeal level (κ = 0.31, p = 0.009); while in the other sub-sites, no significant agreement was found. NSE and OSE are new promising diagnostic tools in OSAS patients. Further investigations are needed to see if they could predict the effectiveness of UA surgery.

  6. FTIR spectroscopy: A new diagnostic tool to aid DNA analysis from heated bone.

    Science.gov (United States)

    Fredericks, Jamie Daniel; Bennett, Phil; Williams, Anna; Rogers, Keith Derek

    2012-05-01

    Deoxyribonucleic acid (DNA) extracted from skeletal tissue can be invaluable in genetic profiling applications, as it is often the only source available. Like all forensic samples, skeletal tissue may have been exposed to a variety of environmental insults, including heat. This study has focussed upon characterising changes in the material properties of bone that has been compromised by controlled heat treatments. These changes were then examined in relation to the subsequent success or failure of nuclear DNA (nDNA) amplification, using a range of differently sized amplicons, relevant to alternate profiling strategies. The results presented demonstrate that the ability to amplify nDNA correlates well with particular changes in mineral and organic content of bone. As such, we propose the application of a 'diagnostic triage tool' that can be performed quickly and at low cost on individual bone samples, in order to determine whether nDNA analysis is likely to be a viable option. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  7. Multirule Based Diagnostic Approach for the Fog Predictions Using WRF Modelling Tool

    Directory of Open Access Journals (Sweden)

    Swagata Payra

    2014-01-01

    Full Text Available The prediction of fog onset remains difficult despite the progress in numerical weather prediction. It is a complex process and requires adequate representation of the local perturbations in weather prediction models. It mainly depends upon microphysical and mesoscale processes that act within the boundary layer. This study utilizes a multirule based diagnostic (MRD approach using postprocessing of the model simulations for fog predictions. The empiricism involved in this approach is mainly to bridge the gap between mesoscale and microscale variables, which are related to mechanism of the fog formation. Fog occurrence is a common phenomenon during winter season over Delhi, India, with the passage of the western disturbances across northwestern part of the country accompanied with significant amount of moisture. This study implements the above cited approach for the prediction of occurrences of fog and its onset time over Delhi. For this purpose, a high resolution weather research and forecasting (WRF model is used for fog simulations. The study involves depiction of model validation and postprocessing of the model simulations for MRD approach and its subsequent application to fog predictions. Through this approach model identified foggy and nonfoggy days successfully 94% of the time. Further, the onset of fog events is well captured within an accuracy of 30–90 minutes. This study demonstrates that the multirule based postprocessing approach is a useful and highly promising tool in improving the fog predictions.

  8. Saliva specimen: a new laboratory tool for diagnostic and basic investigation.

    Science.gov (United States)

    Chiappin, Silvia; Antonelli, Giorgia; Gatti, Rosalba; De Palo, Elio F

    2007-08-01

    The assay of saliva is an increasing area of research with implications for basic and clinical purposes. Although this biological fluid is easy to manipulate and collect, careful attention must be directed to limit variation in specimen integrity. Recently, the use of saliva has provided a substantial addition to the diagnostic armamentarium as an investigative tool for disease processes and disorders. In addition to its oral indications, the analysis of saliva provides important information about the functioning of various organs within the body. In this respect, endocrine research certainly occupies a central role. The present review considers the laboratory aspects of salivary assays with respect to the different analytes including ions, drugs and various non-protein/protein compounds such as hormones and immunoglobulins. This review also examines the consequences of preanalytical variation with respect to collection strategy and subsequent storage conditions. It is likely that the use of saliva in assays will continue to expand thus providing a new instrument of investigation for physiologic as well as pathophysiologic states.

  9. Prenatal Care.

    Science.gov (United States)

    Health Resources and Services Administration (DHHS/PHS), Rockville, MD. Office for Maternal and Child Health Services.

    This booklet is the first in a series of publications designed to provide parents with useful information about childrearing. Contents are organized into three parts. Part I focuses on the pregnancy, prenatal care, development of the baby, pregnant lifestyles, nutrition, common discomforts, and problems of pregnancy. Part II provides information…

  10. Overview of erosion–deposition diagnostic tools for the ITER-Like Wall in the JET tokamak

    Energy Technology Data Exchange (ETDEWEB)

    Rubel, M., E-mail: rubel@kth.se [Royal Institute of Technology (KTH), Association EURATOM-VR, Stockholm (Sweden); Coad, J.P. [VTT, Association EURATOM-Tekes, 02044 VTT (Finland); Widdowson, A.; Matthews, G.F. [EURATOM/CCFE Fusion Association, Culham Science Centre, Abingdon OX14 3DB (United Kingdom); Esser, H.G. [Forschungszentrum Jülich, Association EURATOM-FZJ, Jülich (Germany); Hirai, T. [ITER Organisation, Cadarache (France); Likonen, J. [VTT, Association EURATOM-Tekes, 02044 VTT (Finland); Linke, J. [Forschungszentrum Jülich, Association EURATOM-FZJ, Jülich (Germany); Lungu, C.P. [NILPRP, Association EURATOM-MEdC, Bucharest (Romania); Mayer, M. [Max Planck Institute for Plasma Physics, EURATOM Association, Garching (Germany); Pedrick, L. [VTT, Association EURATOM-Tekes, 02044 VTT (Finland); Ruset, C. [NILPRP, Association EURATOM-MEdC, Bucharest (Romania)

    2013-07-15

    This paper presents scientific and technical issues related to the development of erosion–deposition diagnostic tools for JET operated with the ITER-Like Wall: beryllium and tungsten marker tiles and several types of wall probes installed in the main chamber and in the divertor. Markers tiles are the standard limiter and divertor components additionally coated first with a thin sandwich of Ni–Be and Mo–W for, beryllium and tungsten markers, respectively. Both types of markers are embedded in regular arrays of limiter and divertor tiles. Coated W–Be probes are also inserted in the Be-covered Inconel cladding tiles on the central column. Other types of erosion–deposition diagnostic tools are: rotating collectors, deposition traps, louver clips, quartz microbalance and mirrors for the First Mirror Test at JET for ITER. The specific role of these tools is discussed in detail.

  11. Pallister-Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnostics.

    Science.gov (United States)

    Polityko, Anna D; Goncharova, Elena; Shamgina, Ludmila; Drozdovskaja, Natalia; Podleschuk, Lubov; Abramchik, Elena; Jaroshevich, Eugenia; Khurs, Olga; Pisarik, Irina; Pribushenya, Oksana; Rumyantseva, Natalia; Naumchik, Irina

    2005-03-01

    Pallister-Killian syndrome (PKS) is characterized cytogenetically by mosaic tetrasomy of chromosome 12p. Routine prenatal diagnosis of PKS is still complicated because of the difficulties of discriminating between the supernumerary isochromosome 12p and the duplication 21q and because of the variable level of mosaicism. The frequency of cells with an extra metacentric chromosome i(12)(p10) is usually determined by tissue-limited or tissue-specific mosaicism. We demonstrated a decrease of the abnormal clone with extra i(12p) in the amniotic fluid cells of the PKS fetus during amniocyte subculturing. The rapid loss of the i(12p) in the course of amniocyte subculturing should be the focus of attention during prenatal karyotyping. This is especially necessary for cultures with slow growth, which require further interpretation of the result during cytogenetic diagnosis of PKS.

  12. Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis

    Directory of Open Access Journals (Sweden)

    Wright Caroline F

    2012-09-01

    Full Text Available Abstract Background Cell-free fetal DNA (cffDNA can be detected in maternal blood during pregnancy, opening the possibility of early non-invasive prenatal diagnosis for a variety of genetic conditions. Since 1997, many studies have examined the accuracy of prenatal fetal sex determination using cffDNA, particularly for pregnancies at risk of an X-linked condition. Here we report a review and meta-analysis of the published literature to evaluate the use of cffDNA for prenatal determination (diagnosis of fetal sex. We applied a sensitive search of multiple bibliographic databases including PubMed (MEDLINE, EMBASE, the Cochrane library and Web of Science. Results Ninety studies, incorporating 9,965 pregnancies and 10,587 fetal sex results met our inclusion criteria. Overall mean sensitivity was 96.6% (95% credible interval 95.2% to 97.7% and mean specificity was 98.9% (95% CI = 98.1% to 99.4%. These results vary very little with trimester or week of testing, indicating that the performance of the test is reliably high. Conclusions Based on this review and meta-analysis we conclude that fetal sex can be determined with a high level of accuracy by analyzing cffDNA. Using cffDNA in prenatal diagnosis to replace or complement existing invasive methods can remove or reduce the risk of miscarriage. Future work should concentrate on the economic and ethical considerations of implementing an early non-invasive test for fetal sex.

  13. 前置胎盘合并胎盘植入的产前彩色多普勒超声诊断价值%Diagnostic Value of placenta previa complicated with placenta increta by prenatal Color Doppler sonography

    Institute of Scientific and Technical Information of China (English)

    韩新洪; 解左平; 邱合荣

    2011-01-01

    Objective: To approach sonographic feature and the prenatal diagnostic value of placenta previa complicated with placenta increta. Methods: 289 cases with placenta previa underwent rout prenatal sonography to observe the sate of placenta increta. Results: 14 cases with placenta increta were detected by sonography, 12 cases were confirmed by clinic and pathology. The diagnose accordance rate was 85.7% (12/14). 5 cases were missed diagnosed, 2 cases were misdiagnosed. Conclusion: With the typical sonographic feature, prenatal sonography of placenta previa complicated with placenta increta help to the clinic diagnosis and handle.%目的 探讨前置胎盘合并胎盘植入的产前彩色多普勒超声的声像图特点及诊断价值.方法 对289例前置胎盘患者行常规产前超声检查,重点观察胎盘植入情况.结果 超声诊断胎盘植入14例,产后经临床及病理确诊12例,诊断符合率85.7%(12/14).5例漏诊,2例误诊.结论 前置胎盘合并胎盘植入的彩色多普勒超声具有较典型声像图特点,产前超声检查能为临床诊断及处理提供帮助.

  14. Peste des petits ruminants diagnosis and diagnostic tools at a glance: perspectives on global control and eradication.

    Science.gov (United States)

    Santhamani, Ramasamy; Singh, Rabindra Prasad; Njeumi, Felix

    2016-11-01

    Peste des petits ruminants (PPR) is a highly contagious, economically important viral disease of small ruminants, targeted for global eradication by the year 2030. The recent geographic surge in PPR virus distribution, economic implications, the success of the rinderpest eradication campaign, and ongoing national/regional efforts convinced the FAO and OIE to initiate a global PPR control and eradication strategy. Since its discovery, a series of diagnostic tools have been developed for detecting PPR virus and virus-specific antibodies. Furthermore, it is understood that diagnostic and vaccine-monitoring tools are inevitable components of the four-stage strategy of global PPR eradication from assessment to the post-eradication phase. However, these tools may not be suitable for all stages of PPR control and eradication. For instance, diagnostics such as ELISA could be used for mass screening of clinical and serum samples, whereas immunochromatographic tests can be used at the field level as a pen-side test. Yet, assays with higher sensitivity, such as RT-PCR, RT-PCR ELISA, real-time RT-PCR and LAMP are important for early diagnosis of PPR and also, theoretically, during the late stages of eradication or when sampling non-natural hosts. Moreover, during the later stages of any control program, suspected/doubtful outbreaks will have to be reconfirmed using multiple laboratory tests. Hence, diagnostics can and should be efficiently applied at different stages of the PPR control and eradication campaign based on available resources and the number of samples to be tested. This article provides an overview of the various PPR diagnostic tools and suggests where and how they should be logically applied during the different phases of global PPR control and eradication.

  15. EEG, CT scan and MRI as diagnostic tools for ADHD in population between 6 and 19 years: a systematic review

    Directory of Open Access Journals (Sweden)

    José Calleja

    2012-09-01

    Full Text Available Introduction: Attention deficit and hyperactivity disorder (ADHD is generally diagnosed based on the criteria of DSM-IV. Because several diagnostic tests have appeared such as electroencephalography (EEG, CT scan and magnetic resonance imaging (MRI, there is a particular interest in determining the usefulness and diagnostic accuracy of these tests for the diagnosis of ADHD. Purpose: To identify, synthesize and evaluate the best available evidence on the usefulness of EEG, CT and MRI as a diagnostic tool in ADHD in the 6-19 year-old population. Methods: A systematic review of studies on diagnostic tests that assessed the validity, reliability and effectiveness of the implementation of EEG, CT and MRI in the diagnosis of ADHD in the 6-19 year-old population was conducted. Searches were done in PubMed/MEDLINE, LILACS, Cochrane, DARE and National Guideline Clearinghouse databases, until February 2012, in English and Spanish. The articles that met the inclusion criteria were independently assessed by two investigators for methodological quality using standard checklists for review articles and diagnostic test articles. Results: Of the 115 studies found, eight studies were included, among which two medium-quality systematic reviews and a good-quality primary article on diagnostic tests. Additionally, five evidence-based clinical guidelines that address this issue were also included. Conclusions: The available evidence on the validity, reliability and effectiveness of the electroencephalogram, computed tomography and magnetic resonance imaging, does not recommend their use as diagnostic tools for ADHD. Clinical practice guidelines do not recommend their use either. These tests are recommended for the assessment of the individual patient with the disorder.

  16. Embryonal tumor with multilayered rosettes: diagnostic tools update and review of the literature.

    Science.gov (United States)

    Ceccom, Johnatan; Bourdeaut, Franck; Loukh, Najat; Rigau, Valerie; Milin, Serge; Takin, Romulus; Richer, Wilfrid; Uro-Coste, Emmanuelle; Couturier, Jerome; Bertozzi, Anne Isabelle; Delattre, Olivier; Delisle, Marie Bernadette

    2014-01-01

    Embryonal tumor with multilayered rosettes (ETMR), including embryonal tumor with abundant neuropil and true rosettes (ETANTR), and ependymoblastoma (EBL) constitute a distinct entity of the primitive neuroectodermal tumor (PNET) family. The presence of a focal amplification at chromosome region 19q13.42 associated with an up-regulation of the oncogenic miRNA cluster C19MC suggests that they may represent a histological spectrum of a single biological entity. Their histopathological spectrum is wide, including medulloepithelioma, their location may be supra- or infra-tentorial, their prognosis is poor. Recent data on molecular subgroups of PNETs have led to new insights on diagnosis and treatment of these tumors. Subsequently, LIN28A immunoexpression was identified as a highly specific marker for ETMR. In this study, we report 4 cases diagnosed initially as ETANTR with CGH-array data, including 19q13.42 gain with absence of other amplicons, particularly of the MYC gene family, and inconstant gain of whole chromosome 2. Immunohistochemical positive expression of LIN28A and absence of Olig2 expression were observed. We summarize the literature on ETMR, pointing out on the nosological evolution of this entity and the findings on genetic hallmarks of this particular tumor. Our results emphasize the usefulness of immunohistochemistry as a highly sensitive and fast diagnostic tool for ETMR and for genetic data, especially for 19q13.42 locus. Biological features may offer new therapeutic options for these embryonal tumors that do not usually respond to conventional treatments of PNETs.

  17. Raman spectroscopy provides a powerful diagnostic tool for accurate determination of albumin glycation.

    Directory of Open Access Journals (Sweden)

    Narahara Chari Dingari

    Full Text Available We present the first demonstration of glycated albumin detection and quantification using Raman spectroscopy without the addition of reagents. Glycated albumin is an important marker for monitoring the long-term glycemic history of diabetics, especially as its concentrations, in contrast to glycated hemoglobin levels, are unaffected by changes in erythrocyte life times. Clinically, glycated albumin concentrations show a strong correlation with the development of serious diabetes complications including nephropathy and retinopathy. In this article, we propose and evaluate the efficacy of Raman spectroscopy for determination of this important analyte. By utilizing the pre-concentration obtained through drop-coating deposition, we show that glycation of albumin leads to subtle, but consistent, changes in vibrational features, which with the help of multivariate classification techniques can be used to discriminate glycated albumin from the unglycated variant with 100% accuracy. Moreover, we demonstrate that the calibration model developed on the glycated albumin spectral dataset shows high predictive power, even at substantially lower concentrations than those typically encountered in clinical practice. In fact, the limit of detection for glycated albumin measurements is calculated to be approximately four times lower than its minimum physiological concentration. Importantly, in relation to the existing detection methods for glycated albumin, the proposed method is also completely reagent-free, requires barely any sample preparation and has the potential for simultaneous determination of glycated hemoglobin levels as well. Given these key advantages, we believe that the proposed approach can provide a uniquely powerful tool for quantification of glycation status of proteins in biopharmaceutical development as well as for glycemic marker determination in routine clinical diagnostics in the future.

  18. Raman spectroscopy provides a powerful diagnostic tool for accurate determination of albumin glycation.

    Science.gov (United States)

    Dingari, Narahara Chari; Horowitz, Gary L; Kang, Jeon Woong; Dasari, Ramachandra R; Barman, Ishan

    2012-01-01

    We present the first demonstration of glycated albumin detection and quantification using Raman spectroscopy without the addition of reagents. Glycated albumin is an important marker for monitoring the long-term glycemic history of diabetics, especially as its concentrations, in contrast to glycated hemoglobin levels, are unaffected by changes in erythrocyte life times. Clinically, glycated albumin concentrations show a strong correlation with the development of serious diabetes complications including nephropathy and retinopathy. In this article, we propose and evaluate the efficacy of Raman spectroscopy for determination of this important analyte. By utilizing the pre-concentration obtained through drop-coating deposition, we show that glycation of albumin leads to subtle, but consistent, changes in vibrational features, which with the help of multivariate classification techniques can be used to discriminate glycated albumin from the unglycated variant with 100% accuracy. Moreover, we demonstrate that the calibration model developed on the glycated albumin spectral dataset shows high predictive power, even at substantially lower concentrations than those typically encountered in clinical practice. In fact, the limit of detection for glycated albumin measurements is calculated to be approximately four times lower than its minimum physiological concentration. Importantly, in relation to the existing detection methods for glycated albumin, the proposed method is also completely reagent-free, requires barely any sample preparation and has the potential for simultaneous determination of glycated hemoglobin levels as well. Given these key advantages, we believe that the proposed approach can provide a uniquely powerful tool for quantification of glycation status of proteins in biopharmaceutical development as well as for glycemic marker determination in routine clinical diagnostics in the future.

  19. Duplex ultrasound: A diagnostic tool for carotid stenosis management in type 2 diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Yogan Kisten

    2013-01-01

    Full Text Available Background: Diabetic patients are at increased risk of developing cardiac events and stroke, and prevention of diabetes mellitus is therefore desirable. Marked geographical and ethnic variation in the prevalence of diabetes caused by urbanisation, demographic and epidemiological transitions has rendered this one of the major non-communicable diseases in South Africa. Duplex ultrasound (DUS plays an important role in primary health care in early detection of carotid atherosclerotic disease and the degree of carotid stenosis present. It is a reliable, cost-effective and non-invasive diagnostic tool. The purpose of this study was to determine the role of ultrasound in carotid stenosis management in type 2 diabetes mellitus (T2DM.Objectives: To determine the prevalence of carotid stenosis in a selected T2DM population using DUS and to correlate these findings with other predisposing atherosclerotic risk factors.Methods: The study setting was at an academic hospital in the Western Cape using carotid DUS reports of 103 diabetic subjects ≥ 35 years old. Predisposing risk factors were correlated with degree of carotid stenosis present. Data were analysed using the Fischer exact test, Chisquare and Student t-test.Results: Carotid DUS reports of 63 out of 103 T2DM patients revealed no evidence of a carotid stenosis, thereby lowering the risk profile. Forty patients were identified as having carotidstenosis; 22 symptomatic patients had a > 70% carotid stenosis which warranted surgicalintervention. A greater prevalence of stenosis in the Caucasian group, in both the male (p =0.0411 and female (p = 0.0458 cohorts, was noted. The overall trend suggested a relationship between T2DM and lifestyle, and a statistically significant relationship (p = 0.0063 between smoking and carotid stenosis was observed.Conclusion: T2DM and predisposing atherosclerotic risk factors significantly increased thepossibility of carotid stenosis development.

  20. Automated innovative diagnostic, data management and communication tool, for improving malaria vector control in endemic settings.

    Science.gov (United States)

    Vontas, John; Mitsakakis, Konstantinos; Zengerle, Roland; Yewhalaw, Delenasaw; Sikaala, Chadwick Haadezu; Etang, Josiane; Fallani, Matteo; Carman, Bill; Müller, Pie; Chouaïbou, Mouhamadou; Coleman, Marlize; Coleman, Michael

    2016-01-01

    Malaria is a life-threatening disease that caused more than 400,000 deaths in sub-Saharan Africa in 2015. Mass prevention of the disease is best achieved by vector control which heavily relies on the use of insecticides. Monitoring mosquito vector populations is an integral component of control programs and a prerequisite for effective interventions. Several individual methods are used for this task; however, there are obstacles to their uptake, as well as challenges in organizing, interpreting and communicating vector population data. The Horizon 2020 project "DMC-MALVEC" consortium will develop a fully integrated and automated multiplex vector-diagnostic platform (LabDisk) for characterizing mosquito populations in terms of species composition, Plasmodium infections and biochemical insecticide resistance markers. The LabDisk will be interfaced with a Disease Data Management System (DDMS), a custom made data management software which will collate and manage data from routine entomological monitoring activities providing information in a timely fashion based on user needs and in a standardized way. The ResistanceSim, a serious game, a modern ICT platform that uses interactive ways of communicating guidelines and exemplifying good practices of optimal use of interventions in the health sector will also be a key element. The use of the tool will teach operational end users the value of quality data (relevant, timely and accurate) to make informed decisions. The integrated system (LabDisk, DDMS & ResistanceSim) will be evaluated in four malaria endemic countries, representative of the vector control challenges in sub-Saharan Africa, (Cameroon, Ivory Coast, Ethiopia and Zambia), highly representative of malaria settings with different levels of endemicity and vector control challenges, to support informed decision-making in vector control and disease management.

  1. Bedside tomographic scintigraphy: a diagnostic tool in intensive care and the emergency room

    Science.gov (United States)

    Bone, Dianna; Persson, Mikael; Ribbe, Tommy; Dale, Susanne

    2001-09-01

    Scintigraphic tomography (SPECT) with a gamma camera is an established tool for the diagnosis of disturbances in perfusion of the myocardium. The technique has been shown to be useful in the management of patients with acute myocardial infarction. However, SPECT is not widely used for seriously ill patients due to the need to transport the patient to the gamma camera system. In order to make tomography available by the bedside, a form of limited view angle tomography, Ectomography, has been implemented on a mobile gamma camera system. Projection data are acquired by rotating a slant hole collimator in front of the stationary detector and therefore, the head gantry is simple and easily transported. The mobile system is completely self-contained providing acquisition, reconstruction and bedside display. System sensitivity can be increased by using a segmented collimator, making it possible to present reconstructed sections for diagnosis less than 10 min after the start of acquisition. At present, reconstruction is performed with 2D filtered back projection. A comparative study of patients with suspected coronary artery disease has shown that Ectomography and SPECT yield similar diagnostic information. In an experimental study, in which a coronary artery was occluded, it has been possible to use Ectomography to define myocardial area at risk and final infarct size. Myocardial imaging has been performed in the intensive care unit and a pilot study has demonstrated that brain scans can also be performed. Bedside tomographic scintigraphy has been shown to be feasible and studies can be performed without moving the patient. The method should provide, therefore, an alternative to SPECT in intensive care and the emergency room.

  2. Diagnostic tool for the identification of MLL rearrangements including unknown partner genes

    Science.gov (United States)

    Meyer, Claus; Schneider, Bjoern; Reichel, Martin; Angermueller, Sieglinde; Strehl, Sabine; Schnittger, Susanne; Schoch, Claudia; Jansen, Mieke W. J. C.; van Dongen, Jacques J.; Pieters, Rob; Haas, Oskar A.; Dingermann, Theo; Klingebiel, Thomas; Marschalek, Rolf

    2005-01-01

    Approximately 50 different chromosomal translocations of the human MLL gene are currently known and associated with high-risk acute leukemia. The large number of different MLL translocation partner genes makes a precise diagnosis a demanding task. After their cytogenetic identification, only the most common MLL translocations are investigated by RT-PCR analyses, whereas infrequent or unknown MLL translocations are excluded from further analyses. Therefore, we aimed at establishing a method that enables the detection of any MLL rearrangement by using genomic DNA isolated from patient biopsy material. This goal was achieved by establishing a universal long-distance inverse-PCR approach that allows the identification of any kind of MLL rearrangement if located within the breakpoint cluster region. This method was applied to biopsy material derived from 40 leukemia patients known to carry MLL abnormalities. Thirty-six patients carried known MLL fusions (34 with der(11) and 2 with reciprocal alleles), whereas 3 patients were found to carry novel MLL fusions to ACACA, SELB, and SMAP1, respectively. One patient carried a genomic fusion between MLL and TIRAP, resulting from an interstitial deletion. Because of this interstitial deletion, portions of the MLL and TIRAP genes were deleted, together with 123 genes located within the 13-Mbp interval between both chromosomal loci. Therefore, this previously undescribed diagnostic tool has been proven successful for analyzing any MLL rearrangement including previously unrecognized partner genes. Furthermore, the determined patient-specific fusion sequences are useful for minimal residual disease monitoring of MLL associated acute leukemias. PMID:15626757

  3. Immature-to-total neutrophil ratio as an early diagnostic tool of bacterial neonatal sepsis

    Directory of Open Access Journals (Sweden)

    Darnifayanti Darnifayanti

    2015-05-01

    Full Text Available Background Bacterial sepsis is the main cause of morbidity and mortality in neonates. Early diagnosis and appropriate treatment for the condition can reduce mortality rates. Blood cultures are the gold standard to diagnose bacterial sepsis, but they require 3-5 days for results, whilst the disease may progress rapidly in neonates. Examination of immature-to-total neutrophil ratio (I/T ratio in peripheral blood smears is a quicker and less expensive method to diagnose bacterial sepsis in neonates. Some studies found the sensitivity of I/T ratio to be 88%-90% in predicting bacterial spesis.Objective To assess the usefulness of the I/T ratio as an early diagnostic tool for neonatal bacterial sepsis.Methods This cross-sectional study was conducted from February to March 2011. Subjects were collected by consecutive sampling. Fifty-three neonates suspected to have bacterial sepsis in the Perinatology Unit at H. Adam Malik Hospital were included. Subjects underwent routine blood examinations, C-reactive protein level measurements, blood cultures, and peripheral blood smears. All statistical analyses were conducted with SPSS (version 16.0 for Windows.Results Of the 53 subjects, 26 had bacterial sepsis based on blood cultures. The I/T ratio had a sensitivity of 88.46%, specificity 81.84%, positive predictive value 82.14%, and negative predictive value 88%. The receiver operating characteristic curve showed a cut-off point of 83.3 (95%CI 71.3 to 95.3%.Conclusion The I/T ratio may be a good alternative to blood cultures as an early indicator of bacterial neonatal sepsis, as it is faster, less expensive and has good sensitivity and specificity.

  4. Immature-to-total neutrophil ratio as an early diagnostic tool of bacterial neonatal sepsis

    Directory of Open Access Journals (Sweden)

    DarnifayantI

    2015-05-01

    Full Text Available Background Bacterial sepsis is the main cause of morbidity and mortality in neonates. Early diagnosis and appropriate treatment for the condition can reduce mortality rates. Blood cultures are the gold standard to diagnose bacterial sepsis, but they require 3-5 days for results, whilst the disease may progress rapidly in neonates. Examination of immature-to-total neutrophil ratio (I/T ratio in peripheral blood smears is a quicker and less expensive method to diagnose bacterial sepsis in neonates. Some studies found the sensitivity of I/T ratio to be 88%-90% in predicting bacterial spesis. Objective To assess the usefulness of the I/T ratio as an early diagnostic tool for neonatal bacterial sepsis. Methods This cross-sectional study was conducted from February to March 2011. Subjects were collected by consecutive sampling. Fifty-three neonates suspected to have bacterial sepsis in the Perinatology Unit at H. Adam Malik Hospital were included. Subjects underwent routine blood examinations, C-reactive protein level measurements, blood cultures, and peripheral blood smears. All statistical analyses were conducted with SPSS (version 16.0 for Windows. Results Of the 53 subjects, 26 had bacterial sepsis based on blood cultures. The I/T ratio had a sensitivity of 88.46%, specificity 81.84%, positive predictive value 82.14%, and negative predictive value 88%. The receiver operating characteristic curve showed a cut-off point of 83.3 (95%CI 71.3 to 95.3%. Conclusion The I/T ratio may be a good alternative to blood cultures as an early indicator of bacterial neonatal sepsis, as it is faster, less expensive and has good sensitivity and specificity. [Paediatr Indones. 2015;55:153-7.].

  5. Bedside tomographic scintigraphy: a diagnostic tool in intensive care and the emergency room

    Energy Technology Data Exchange (ETDEWEB)

    Bone, Dianna E-mail: dianna.bone@ks.se; Persson, Mikael; Ribbe, Tommy; Dale, Susanne

    2001-09-21

    Scintigraphic tomography (SPECT) with a gamma camera is an established tool for the diagnosis of disturbances in perfusion of the myocardium. The technique has been shown to be useful in the management of patients with acute myocardial infarction. However, SPECT is not widely used for seriously ill patients due to the need to transport the patient to the gamma camera system. In order to make tomography available by the bedside, a form of limited view angle tomography, Ectomography, has been implemented on a mobile gamma camera system. Projection data are acquired by rotating a slant hole collimator in front of the stationary detector and therefore, the head gantry is simple and easily transported. The mobile system is completely self-contained providing acquisition, reconstruction and bedside display. System sensitivity can be increased by using a segmented collimator, making it possible to present reconstructed sections for diagnosis less than 10 min after the start of acquisition. At present, reconstruction is performed with 2D filtered back projection. A comparative study of patients with suspected coronary artery disease has shown that Ectomography and SPECT yield similar diagnostic information. In an experimental study, in which a coronary artery was occluded, it has been possible to use Ectomography to define myocardial area at risk and final infarct size. Myocardial imaging has been performed in the intensive care unit and a pilot study has demonstrated that brain scans can also be performed. Bedside tomographic scintigraphy has been shown to be feasible and studies can be performed without moving the patient. The method should provide, therefore, an alternative to SPECT in intensive care and the emergency room.

  6. Development of an epitope conservancy analysis tool to facilitate the design of epitope-based diagnostics and vaccines

    Directory of Open Access Journals (Sweden)

    Fusseder Nicolas

    2007-09-01

    Full Text Available Abstract Background In an epitope-based vaccine setting, the use of conserved epitopes would be expected to provide broader protection across multiple strains, or even species, than epitopes derived from highly variable genome regions. Conversely, in a diagnostic and disease monitoring setting, epitopes that are specific to a given pathogen strain, for example, can be used to monitor responses to that particular infectious strain. In both cases, concrete information pertaining to the degree of conservancy of the epitope(s considered is crucial. Results To assist in the selection of epitopes with the desired degree of conservation, we have developed a new tool to determine the variability of epitopes within a given set of protein sequences. The tool was implemented as a component of the Immune Epitope Database and Analysis Resources (IEDB, and is directly accessible at http://tools.immuneepitope.org/tools/conservancy. Conclusion An epitope conservancy analysis tool was developed to analyze the variability or conservation of epitopes. The tool is user friendly, and is expected to aid in the design of epitope-based vaccines and diagnostics.

  7. Women's and healthcare professionals' preferences for prenatal testing: a discrete choice experiment

    NARCIS (Netherlands)

    Beulen, L.; Grutters, J.P.C.; Faas, B.H.W.; Feenstra, I.; Groenewoud, H.; Vugt, J.M.G. van; Bekker, M.N.

    2015-01-01

    OBJECTIVE: This study evaluates pregnant women's and healthcare professionals' preferences regarding specific prenatal screening and diagnostic test characteristics. METHOD: A discrete choice experiment was developed to assess preferences for prenatal tests that differed in seven attributes: minimal

  8. Review of diagnostic tools to investigate the physical state of rapid granular filters

    DEFF Research Database (Denmark)

    Lopato, Laure Rose; Binning, Philip John; Arvin, Erik

    2012-01-01

    of the art tools and tools currently in development or conception stage. The development status, usability and availability of each tool and procedure are discussed. Some conventional, simple and low-tech tools are available which can rapidly provide both qualitative and quantitative information. However...

  9. Quantitative Electroencephalography as a Diagnostic Tool for Alzheimer's Dementia in Adults with Down Syndrome

    DEFF Research Database (Denmark)

    Salem, Lise Cronberg; Sabers, Anne; Kjaer, Troels W

    2015-01-01

    be used as a diagnostic marker for dementia. The aim of this study was to examine the value of qEEG in the diagnostic evaluation of dementia in patients with Down syndrome (DS). METHOD: The study included 21 patients with DS and mild-to-moderate dementia due to Alzheimer's disease (DS-AD) and 16 age...

  10. Quantified light-induced fluorescence, review of a diagnostic tool in prevention of oral disease

    NARCIS (Netherlands)

    de Josselin de Jong, E.; Higham, S.M.; Smith, P.W.; van Daelen, C.J.; van der Veen, M.H.

    2009-01-01

    Diagnostic methods for the use in preventive dentistry are being developed continuously. Few of these find their way into general practice. Although the general trend in medicine is to focus on disease prevention and early diagnostics, in dentistry this is still not the case. Nevertheless, in dental

  11. How to make DNA count: DNA-based diagnostic tools in veterinary parasitology.

    Science.gov (United States)

    Hunt, P W; Lello, J

    2012-05-04

    Traditional methods for the diagnosis of parasitic helminth infections of livestock have a number of limitations, such as the inability to distinguish mixed-species infections, a heavy reliance on technical experience and also sub-sampling errors. Some of these limitations may be overcome through the development of rapid and accurate DNA-based tests. For example, DNA-based tests can specifically detect individual species in a mixed infection at either the larval or egg stages, in the absence of morphological differences among species. Even so, some diagnostic problems remain the same, irrespective of whether a DNA-based or traditional method is used. For example, sub-sampling errors from an aggregated distribution are likely to persist. It is proposed, however, that DNA-based diagnostic technologies offer an opportunity to expand diagnostic capabilities, and are discussed in the current review. The future introduction of DNA-based diagnostic technologies into routine diagnostic settings will also be discussed.

  12. Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric center’s experience

    Directory of Open Access Journals (Sweden)

    C. Alexander Valencia

    2015-08-01

    Full Text Available Background: There are limited reports of the use of whole exome sequencing as a clinical diagnostic tool. Moreover, there are no reports addressing the cost burden associated with genetic tests performed prior to WES.Objective: We demonstrate the performance characteristics of WES in a pediatric setting by describing our patient cohort, calculating the diagnostic yield, and detailing the patients for whom clinical management was altered. Moreover, we examined the potential cost-effectiveness of WES by examining the cost burden of diagnostic workups.Methods: To determine the clinical utility of our hospital’s clinical WES, we performed a retrospective review of the first 40 cases. We utilized dual bioinformatics analyses pipelines based on commercially available software and in-house tools. Results: Of the first 40 clinical cases, we identified genetic defects in twelve (30% patients, of which, 47% of the mutations were previously unreported in the literature. Among the 12 patients with positive findings, 7 have autosomal dominant disease and 5 have autosomal recessive disease. Ninety percent of the cohort opted to receive secondary findings, and of those, secondary medical actionable results were returned in three cases. Among these positive cases there are a number of novel mutations that are being reported here. The diagnostic workup included a significant number of genetic tests with microarray and single gene sequencing being the most popular tests. Significantly, genetic diagnosis from WES led to altered patient medical management in positive cases. Conclusions: We demonstrate the clinical utility of WES by establishing the clinical diagnostic rate and its impact on medical management in a large pediatric center. The cost-effectiveness of WES was demonstrated by ending the diagnostic odyssey in positive cases. Also, in some cases it may be most cost-effective to directly perform WES. WES provides a unique glimpse into the complexity of

  13. Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.

    Science.gov (United States)

    Valencia, C Alexander; Husami, Ammar; Holle, Jennifer; Johnson, Judith A; Qian, Yaping; Mathur, Abhinav; Wei, Chao; Indugula, Subba Rao; Zou, Fanggeng; Meng, Haiying; Wang, Lijun; Li, Xia; Fisher, Rachel; Tan, Tony; Hogart Begtrup, Amber; Collins, Kathleen; Wusik, Katie A; Neilson, Derek; Burrow, Thomas; Schorry, Elizabeth; Hopkin, Robert; Keddache, Mehdi; Harley, John Barker; Kaufman, Kenneth M; Zhang, Kejian

    2015-01-01

    There are limited reports of the use of whole exome sequencing (WES) as a clinical diagnostic tool. Moreover, there are no reports addressing the cost burden associated with genetic tests performed prior to WES. We demonstrate the performance characteristics of WES in a pediatric setting by describing our patient cohort, calculating the diagnostic yield, and detailing the patients for whom clinical management was altered. Moreover, we examined the potential cost-effectiveness of WES by examining the cost burden of diagnostic workups. To determine the clinical utility of our hospital's clinical WES, we performed a retrospective review of the first 40 cases. We utilized dual bioinformatics analyses pipelines based on commercially available software and in-house tools. Of the first 40 clinical cases, we identified genetic defects in 12 (30%) patients, of which 47% of the mutations were previously unreported in the literature. Among the 12 patients with positive findings, seven have autosomal dominant disease and five have autosomal recessive disease. Ninety percent of the cohort opted to receive secondary findings and of those, secondary medical actionable results were returned in three cases. Among these positive cases, there are a number of novel mutations that are being reported here. The diagnostic workup included a significant number of genetic tests with microarray and single-gene sequencing being the most popular tests. Significantly, genetic diagnosis from WES led to altered patient medical management in positive cases. We demonstrate the clinical utility of WES by establishing the clinical diagnostic rate and its impact on medical management in a large pediatric center. The cost-effectiveness of WES was demonstrated by ending the diagnostic odyssey in positive cases. Also, in some cases it may be most cost-effective to directly perform WES. WES provides a unique glimpse into the complexity of genetic disorders.

  14. Evaluation of a new paleosecular variation activity index as a diagnostic tool for geomagnetic field variations

    Science.gov (United States)

    Panovska, Sanja; Constable, Catherine

    2015-04-01

    Geomagnetic indices like Dst, K and A, have been used since the early twentieth century to characterize activity in the external part of the modern geomagnetic field and as a diagnostic for space weather. These indices reflect regional and global activity and serve as a proxy for associated physical processes. However, no such tools are yet available for the internal geomagnetic field driven by the geodynamo in Earth's liquid outer core. To some extent this reflects limited spatial and temporal sampling for longer timescales associated with paleomagnetic secular variation, but recent efforts in both paleomagnetic data gathering and modeling activity suggest that longer term characterization of the internal geomagnetic weather/climate and its variability would be useful. Specifically, we propose an index for activity in paleosecular variation, useful as both a local and global measure of field stability during so-called normal secular variation and as a means of identifying more extreme behavior associated with geomagnetic excursions and reversals. To date, geomagnetic excursions have been identified by virtual geomagnetic poles (VGPs) deviating more than some conventional limit from the geographic pole (often 45 degrees), and/or by periods of significant intensity drops below some critical value, for example 50% of the present-day field. We seek to establish a quantitative definition of excursions in paleomagnetic records by searching for synchronous directional deviations and lows in relative paleointensity. We combine paleointensity variations with deviations from the expected geocentric axial dipole (GAD) inclination in a single parameter, which we call the paleosecular variation (PSV) activity index. This new diagnostic can be used on any geomagnetic time series (individual data records, model predictions, spherical harmonic coefficients, etc.) to characterize the level of paleosecular variation activity, find excursions, or even study incipient reversals

  15. Infrared thermography as a diagnostic tool to indicate sick-house-syndrome: a case-study

    Science.gov (United States)

    Ljungberg, Sven-Ake

    1996-03-01

    function, manload and demand of air flow. Field control inspections were performed partly from the inside and partly from the outside of the building. Microbial activities were investigated by traditional measurements of the emissions and contamination of indoor air, and by ocular inspections and laboratory tests of building materials. Despite the fact that the building studied has a complicated composition of surface materials, including glass, wood, steel and concrete panels, it was possible to indirectly indicate surface anomalies, related to microbial deterioration of organic materials, through mold and rot activities, due to in-exfiltration of humid air, causing moisture problems within the construction. The result from this case-study shows that thermography can become an important diagnostic tool in order to detect and map sick-house-syndromes. The project is to be continued.

  16. Salivary glucose as a diagnostic tool in Type II diabetes mellitus: A ...

    African Journals Online (AJOL)

    2015-11-02

    Nov 2, 2015 ... diagnostic markers for human disease. A growing number ... This study aimed to determine any alterations in the salivary glucose levels and to .... other biological fluids like urine, sweat, and saliva are also being utilized for ...

  17. Epidemiologic aspects of neural tube defects in the United States: changing concepts and their importance for screening and prenatal diagnostic programs

    Energy Technology Data Exchange (ETDEWEB)

    Sever, L.E.; Strassburg, M.A.

    1983-09-01

    This report considers several major epidemiologic aspects of neural tube defects (NTDs). After examining briefly the approaches and goals of epidemiology the traditional epidemiologic concepts of NTDs are reviewed and new interpretations of the epidemiology of these defects is suggested. Three major topics are addressed: (1) that much of our knowledge of the epidemiology of the NTDs comes from areas or periods of high rates of occurrence and that generalizations based on these data may not be applicable to low incidence situations; (2) that the etiology of these defects is multifactorial, involving interaction between genetic and nongenetic factors which may differ in their relative importance between populations; and (3) that anencephalus and spina bifida may be more epidemiologically and etiologically distinct than is usually appreciated. A final consideration deals with some recent contributions of epidemiology to screening and prenatal diagnosis programs.

  18. Cost-effectiveness of novel diagnostic tools for the diagnosis of tuberculosis.

    Science.gov (United States)

    Dowdy, D W; O'Brien, M A; Bishai, D

    2008-09-01

    The potential cost-effectiveness of improved diagnostic tests for tuberculosis (TB) in resource-limited settings is unknown. To estimate the incremental cost-effectiveness of a hypothetical new point-of-care TB diagnostic test in South Africa, Brazil and Kenya. Decision-analysis model, adding four diagnostic interventions (sputum smear microscopy, new test, smear plus new test and smear plus TB culture) to a baseline of existing infrastructure without smear. Adding sputum smear was estimated to be more cost-effective (incremental cost per disability-adjusted life year [DALY] of $86 [South Africa], $131 [Brazil], $38 (Kenya]) than a new TB diagnostic with 70% sensitivity, 95% specificity and price of $20 per test ($198 [South Africa], $275 [Brazil], $84 [Kenya]). However, compared to sputum smear, smear plus new test averted 46-49% more DALYs per 1000 TB suspects (321 vs. 215 [South Africa], 243 vs. 166 [Brazil], 790 vs. 531 [Kenya]), at an incremental cost of $170 (Kenya) to $625 (Brazil) per DALY averted. Cost-effectiveness was most sensitive to the specificity and price of the new test, the baseline TB case detection rate and the discount rate. Novel diagnostic tests for TB are potentially highly cost-effective. Cost-effectiveness is maximized by high-specificity, low-cost tests deployed to regions with poor infrastructure.

  19. "Light-tagged" bacteriophage as a diagnostic tool for the detection of phytopathogens.

    Science.gov (United States)

    Schofield, David; Bull, Carolee T; Rubio, Isael; Wechter, W Patrick; Westwater, Caroline; Molineux, Ian J

    2013-01-01

    Detection of the phytopathogen Pseudomonas cannabina pv alisalensis, the causal agent of bacterial blight of crucifers is essential for managing this disease. A phage-based diagnostic assay was developed that detects and identifies P. cannabina pv alisalensis from cultures and diseased plant specimens. A recombinant "light-tagged" reporter phage was generated by integrating the luxAB genes into the P. cannabina pv alisalensis phage PBSPCA1 genome. PBSPCA1::luxAB is viable, stable and detects P. cannabina pv alisalensis within minutes and with high sensitivity by conferring a bioluminescent signal. Detection is dependent on cell viability since cells treated with a bactericidal disinfectant are unable to elicit a signal. Importantly, the reporter phage detects P. cannabina pv alisalensis from diseased plant specimens indicating the potential of the diagnostic for disease identification. The reporter phage displays promise for the rapid and specific diagnostic detection of cultivated isolates, and infected plant specimens.

  20. Structural studies of Helix aspersa agglutinin complexed with GalNAc: A lectin that serves as a diagnostic tool.

    Science.gov (United States)

    Pietrzyk, Agnieszka J; Bujacz, Anna; Mak, Paweł; Potempa, Barbara; Niedziela, Tomasz

    2015-11-01

    Lectins belong to a differentiated group of proteins known to possess sugar-binding properties. Due to this fact, they are interesting research targets in medical diagnostics. Helix aspersa agglutinin (HAA) is a lectin that recognizes the epitopes containing α-d-N-acetylgalactosamine (GalNAc), which is present at the surface of metastatic cancer cells. Although several reports have already described the use of HAA as a diagnostic tool, this protein was not characterized on the molecular level. Here, we present for the first time the structural information about lectin isolated from mucus of Helix aspersa (garden snail). The amino acid sequence of this agglutinin was determined by Edman degradation and tertiary as well as quaternary structure by X-ray crystallography. The high resolution crystal structure (1.38Å) and MALDI-TOF mass spectrometry analysis provide the detailed information about a large part of the HAA natural glycan chain. The topology of the GalNAc binding cleft and interaction with lectin are very well defined in the structure and fully confirmed by STD HSQC NMR spectroscopy. Together, this provides structural clues regarding HAA specificity and opens possibilities to rational modifications of this important diagnostic tool.

  1. Does Radar Technology Support the Diagnosis of Pneumothorax? PneumoScan—A Diagnostic Point-of-Care Tool

    Directory of Open Access Journals (Sweden)

    T. Lindner

    2013-01-01

    Full Text Available Background. A nonrecognized pneumothorax (PTX may become a life-threatening tension PTX. A reliable point-of-care diagnostic tool could help in reduce this risk. For this purpose, we investigated the feasibility of the use of the PneumoScan, an innovative device based on micropower impulse radar (MIR. Patients and Methods. addition to a standard diagnostic protocol including clinical examination, chest X-ray (CXR, and computed tomography (CT, 24 consecutive patients with chest trauma underwent PneumoScan testing in the shock trauma room to exclude a PTX. Results. The application of the PneumoScan was simple, quick, and reliable without functional disorder. Clinical examination and CXR each revealed one and PneumoScan three out of altogether four PTXs (sensitivity 75%, specificity 100%, positive predictive value 100%, and negative predictive value 95%. The undetected PTX did not require intervention. Conclusion. The PneumoScan as a point-of-care device offers additional diagnostic value in patient management following chest trauma. Further studies with more patients have to be performed to evaluate the diagnostic accuracy of the device.

  2. Diagnostic significance of prenatal ultrasonographic for fetal polycystic renal diseases%产前超声对胎儿肾脏囊性病变的诊断价值

    Institute of Scientific and Technical Information of China (English)

    黄猛; 梁朝朝; 王玲; 李亮; 樊松; 张翼飞

    2013-01-01

    目的 探讨产前超声检查诊断胎儿肾脏多囊性疾病的临床价值.方法 回顾性分析该院超声科检出的36例肾脏多囊性疾病胎儿的声像图特点.结果 28 405名孕妇中检出36例肾囊性病变,发病率0.127%,36例中婴儿型多囊肾7例(0.194%),多囊性发育不良肾15例(0.417%),成人型多囊肾6例(0.167%),梗阻性囊性发育不良肾8例(0.222%).结论 产前超声检查能及时诊断胎儿肾脏囊性病变,能对胎儿可能的预后给予客观的评价,并为临床干预提供有价值的依据,从而达到优生优育提高人口质量的目的.%Objective To discuss the diagnostic value of the prenatal ultrasonography for fetal polycystic renal diseases. Methods The ultrasonographic features of 36 cases with fetal polycystic renal diseases found with prenatal ultrasound were analyzed retrospectively. Results There were 36 cases of fetal polycystic renal diseases found from 28 405 pregnant women. Of the 36 fetuses,there were 7 fetuses with infantile polycystic kidney(0. 194% ) ,15 fetuses with multicystic dysplastic kidney(0.417% ) ,6 fetuses with adult polyeystic kid-ney(0. 167% ) ,8 fetuses with obstructive cystic dysplastic kidney(0. 222% ) . Conclusion Prenatal ultrasound can make correct and timely diagnosis for the fetal polycystic renal diseases,give an objective evaluation to the prognosis of the fetus,and for clinical intervention provide valuable basis,so as to improve the quality of the population eugenic and superior nurture purpose.

  3. The Diagnostic Accuracy of Screening Tools to Detect Eating Disorders in Female Athletes.

    Science.gov (United States)

    Wagner, Alyssa J; Erickson, Casey D; Tierney, Dayna K; Houston, Megan N; Bacon, Cailee E Welch

    2016-12-01

    Clinical Scenario: Eating disorders in female athletes are a commonly underdiagnosed condition. Better screening tools for eating disorders in athletic females could help increase diagnosis and help athletes get the treatment they need. Focused Clinical Question: Should screening tools be used to detect eating disorders in female athletes? Summary of Key Findings: The literature was searched for studies that included information regarding the sensitivity and specificity of screening tools for eating disorders in female athletes. The search returned 5 possible articles related to the clinical question; 3 studies met the inclusion criteria (2 cross-sectional studies, 1 cohort study) and were included. All 3 studies reported sensitivity and specificity for the Athletic Milieu Direct Questionnaire version 2, the Brief Eating Disorder in Athletes Questionnaire version 2, and the Physiologic Screening Test to Detect Eating Disorders Among Female Athletes. All 3 studies found that the respective screening tool was able to accurately identify female athletes with eating disorders; however, the screening tools varied in sensitivity and specificity values. Clinical Bottom Line: There is strong evidence to support the use of screening tools to detect eating disorders in female athletes. Screening tools with higher sensitivity and specificity have demonstrated a successful outcome of determining athletes with eating disorders or at risk for developing an eating disorder. Strength of Recommendation: There is grade A evidence available to demonstrate that screening tools accurately detect female athletes at risk for eating disorders.

  4. The challenge of Clostridium difficile infection: Overview of clinical manifestations, diagnostic tools and therapeutic options

    NARCIS (Netherlands)

    Postma, N.; Kiers, D.; Pickkers, P.

    2015-01-01

    The most important infectious cause of antibiotic-associated diarrhoea and colitis is Clostridium difficile, which is a Gram-positive, anaerobic, spore-forming, toxin-producing bacillus. In this overview we will discuss the diagnostic and therapeutic management of patients presenting with suspected

  5. Urine steroid metabolomics as a novel diagnostic tool for early detection of recurrence in adrenocortical carcinoma

    NARCIS (Netherlands)

    Chortis, Vasileios; Bancos, Irina; Lang, Katharina; Hughes, Beverly A.; O'Neil, Donna M.; Taylor, Angela E.; Fassnacht, Martin; Bertherat, Jerome; Beuschlein, Felix; Quinkler, Marcus; Vassiliadi, Dimitri; Conall Dennedy, M; Mannelli, Massimo; Biehl, Michael; Arlt, Wiebke

    2015-01-01

    Introduction: Adrenocortical carcinoma (ACC) is an aggressive malignancy with a high rate of recurrence. Regular post-operative follow-up imaging is necessary, but associated with high radiation exposure and frequent diagnostic ambiguity. Urine steroid metabolomics has recently been introduced as a

  6. The challenge of Clostridium difficile infection: Overview of clinical manifestations, diagnostic tools and therapeutic options

    NARCIS (Netherlands)

    Postma, N.; Kiers, D.; Pickkers, P.

    2015-01-01

    The most important infectious cause of antibiotic-associated diarrhoea and colitis is Clostridium difficile, which is a Gram-positive, anaerobic, spore-forming, toxin-producing bacillus. In this overview we will discuss the diagnostic and therapeutic management of patients presenting with suspected

  7. The Career Assessment Diagnostic Inventory: A New Career Indecision Assessment Tool.

    Science.gov (United States)

    Vidal-Brown, Sherry A.; Thompson, Bruce

    2001-01-01

    The Career Assessment Diagnostic Inventory evaluates six career indecision factors: family conflict, emotional independence, decision-making anxiety, identity development, career information, and career self-efficacy. Factor analysis and convergent validity results of scores of 539 students supported the instrument's validity. (SK)

  8. Ultrafast Laser Diagnostics for Energetic-Material Ignition Mechanisms: Tools for Physics-Based Model Development.

    Energy Technology Data Exchange (ETDEWEB)

    Kearney, Sean Patrick; Jilek, Brook Anton; Kohl, Ian Thomas; Farrow, Darcie; Urayama, Junji

    2014-11-01

    We present the results of an LDRD project to develop diagnostics to perform fundamental measurements of material properties during shock compression of condensed phase materials at micron spatial scales and picosecond time scales. The report is structured into three main chapters, which each focus on a different diagnostic devel opment effort. Direct picosecond laser drive is used to introduce shock waves into thin films of energetic and inert materials. The resulting laser - driven shock properties are probed via Ultrafast Time Domain Interferometry (UTDI), which can additionally be used to generate shock Hugoniot data in tabletop experiments. Stimulated Raman scattering (SRS) is developed as a temperature diagnostic. A transient absorption spectroscopy setup has been developed to probe shock - induced changes during shock compressio n. UTDI results are presented under dynamic, direct - laser - drive conditions and shock Hugoniots are estimated for inert polystyrene samples and for the explosive hexanitroazobenzene, with results from both Sandia and Lawrence Livermore presented here. SRS a nd transient absorption diagnostics are demonstrated on static thin - film samples, and paths forward to dynamic experiments are presented.

  9. Three-dimensional X-ray Computed Tomography: a new diagnostic tool for artistic and Cultural Heritage

    Directory of Open Access Journals (Sweden)

    Maria Pia Morigi

    2010-06-01

    Full Text Available Born in the early Seventies for medical applications, X-ray Computed Tomography is currently playing an increasingly important role in the field of Cultural Heritage diagnostics. It represents a powerful non-destructive investigation technique, capable of displaying in a three-dimensional way the volume and the internal structure of the investigated objects, also thanks to modern 3D rendering techniques. This article presents the results of some diagnostic tests carried out by our research group, in collaboration with major restoration centers, using transportable tomographic systems developed by us. In particular it will deal with case studies that highlight the versatility and potential of computed tomography as a tool of knowledge in the field of artistic and cultural heritage.

  10. Endoscopic ultrasonography is a valuable diagnostic tool in patients with incidental findings in the pancreas or bile ducts

    DEFF Research Database (Denmark)

    Al-Najami, Issam; Ainsworth, Alan Patrick

    2015-01-01

    evaluation (n = 27), referred for new EUS or other imaging procedures (n = 14) and referred for surgery/endoscopic retrograde cholangiopancreatography (n = 6). In total, 6 patients proved to have neoplastic diseases in the pancreas. None of the patients who were stopped from further evaluation following EUS...... later proved to have a malignant disease in the pancreas. CONCLUSION: EUS is a valuable diagnostic tool in patients with incidental findings in the pancreas/bile duct noted at a CT. Many patients can be stopped from further diagnostic work-up after EUS with a minimal risk of overlooking a malignant......INTRODUCTION: Incidental findings are often seen at computed tomographies (CT). This study describes patients who had an endoscopic ultrasonography (EUS) because of an incidental finding in the pancreas/bile duct. METHODS: Patients referred for EUS between September 2012 and September 2013 because...

  11. Elastography as a new diagnostic tool to detect breast cancer – evaluation of research and clinical applications

    Directory of Open Access Journals (Sweden)

    Paweł Rzymski

    2011-10-01

    Full Text Available Mammography and ultrasonography are currently the most sensitive methods for detecting breast cancer,but elastography is a new diagnostic tool. Stiffness of invasive carcinomas were found to be 5-25 times largerthan that of normal adipose tissue. There are basically two types of elastography examination used in initialclinical research: conventional elastography with compression and shear wave elastography. Analysis of 20 studiesin the years 1997-2010 with 1484 malignant and 2822 benign breast lesions is presented in this paper. Theoverall sensitivity was 67-100% with specificity of 62-99% for elastography. This raises the hope of introducingthis method in the BI-RADS classification and modifying diagnostics in category 3-4.

  12. Pediatric sleep questionnaires as diagnostic or epidemiological tools: a review of currently available instruments.

    Science.gov (United States)

    Spruyt, Karen; Gozal, David

    2011-02-01

    An extensive list of published and unpublished instruments used to investigate or evaluate sleep issues in children was collected and assessed based on the fundamental operational principles of instrument development (11 steps). Of all the available tools identified, only a few were validated and standardized using appropriate psychometric criteria. In fact, only 2 fulfill all desirable criteria and approximately 11 instruments seem to adhere to most of the psychometric tool development requirements, and were therefore assessed in greater detail. Notwithstanding, in the rapidly developing scientific world of pediatric sleep, there are too many tools being used that have not undergone careful and methodical psychometric evaluation, and as such may be fraught with biased or invalid findings. It is hoped that this initial effort in categorizing and assessing available tools for pediatric sleep will serve as recognition of the relatively early developmental stage of our field, and provide the necessary impetus for future tool development using multicentered approaches and adequate methodologies.

  13. Image analysis as an adjunct to manual HER-2 immunohistochemical review: a diagnostic tool to standardize interpretation.

    LENUS (Irish Health Repository)

    Dobson, Lynne

    2010-07-01

    AIMS: Accurate determination of HER-2 status is critical to identify patients for whom trastuzumab treatment will be of benefit. Although the recommended primary method of evaluation is immunohistochemistry, numerous reports of variability in interpretation have raised uncertainty about the reliability of results. Recent guidelines have suggested that image analysis could be an effective tool for achieving consistent interpretation, and this study aimed to assess whether this technology has potential as a diagnostic support tool. METHODS AND RESULTS: Across a cohort of 275 cases, image analysis could accurately classify HER-2 status, with 91% agreement between computer-aided classification and the pathology review. Assessment of the continuity of membranous immunoreactivity in addition to intensity of reactivity was critical to distinguish between negative and equivocal cases and enabled image analysis to report a lower referral rate of cases for confirmatory fluorescence in situ hybridization (FISH) testing. An excellent concordance rate of 95% was observed between FISH and the automated review across 136 informative cases. CONCLUSIONS: This study has validated that image analysis can robustly and accurately evaluate HER-2 status in immunohistochemically stained tissue. Based on these findings, image analysis has great potential as a diagnostic support tool for pathologists and biomedical scientists, and may significantly improve the standardization of HER-2 testing by providing a quantitative reference method for interpretation.

  14. ULTRASONOGRAPHY, AN EFFECTIVE TOOL IN DIAGNOSING PLANTAR FASCIITIS: A SYSTEMATIC REVIEW OF DIAGNOSTIC TRIALS

    Science.gov (United States)

    Wyland, Matthew; Applequist, Lee; Bolowsky, Erin; Klingensmith, Heather; Virag, Isaac

    2016-01-01

    Background Plantar fasciitis (PF) is the most common cause of heel pain that affects 10% of the general population, whether living an athletic or sedentary lifestyle. The most frequent mechanism of injury is an inflammatory response that is caused by repetitive micro trauma. Many techniques are available to diagnose PF, including the use of ultrasonography (US). Purpose The purpose of this study is to systematically review and appraise previously published articles published between the years 2000 and 2015 that evaluated the effectiveness of using US in the process of diagnosing PF, as compared to alternative diagnostic methods. Methods A total of eight databases were searched to systematically review scholarly (peer reviewed) diagnostic and intervention articles pertaining to the ability of US to diagnose PF. Results Using specific key words the preliminary search yielded 264 articles, 10 of which were deemed relevant for inclusion in the study. Two raters independently scored each article using the 15 point modified QUADAS scale. Discussion Six studies compared the diagnostic efficacy of US to another diagnostic technique to diagnose PF, and four studies focused on comparing baseline assessment of plantar fascia before subsequent intervention. The most notable US outcomes measured were plantar fascia thickness, enthesopathy, and hypoechogenicity. Conclusion US was found to be accurate and reliable compared to alternative reference standards like MRI in the diagnosis of PF. The general advantages of US (e.g. cost efficient, ease of administration, non-invasive, limited contraindications) make it a superior diagnostic modality in the diagnosis of PF. US should be considered in rehabilitation clinics to effectively diagnose PF and to accurately monitor improvement in the disease process following rehabilitation interventions. Level of Evidence 1A PMID:27757279

  15. Delving into cornerstones of hypersensitivity to antineoplastic and biological agents: value of diagnostic tools prior to desensitization.

    Science.gov (United States)

    Alvarez-Cuesta, E; Madrigal-Burgaleta, R; Angel-Pereira, D; Ureña-Tavera, A; Zamora-Verduga, M; Lopez-Gonzalez, P; Berges-Gimeno, M P

    2015-07-01

    Evidence regarding drug provocation test (DPT) with antineoplastic and biological agents is scarce. Our aim was to assess the usefulness of including DPT as a paramount gold standard diagnostic tool (prior to desensitization). Prospective, observational, longitudinal study with patients who, during a 3-year period, were referred to the Desensitization Program at Ramon y Cajal University Hospital. Patients underwent a structured diagnostic protocol by means of anamnesis, skin tests (ST), risk assessment, and DPT. Oxaliplatin-specific IgE was determined in oxaliplatin-reactive patients (who underwent DPT regardless of oxaliplatin-specific IgE results). Univariate analysis and multivariate analysis were used to identify predictors of the final diagnosis among several variables. A total of 186 patients were assessed. A total of 104 (56%) patients underwent DPT. Sixty-four percent of all DPTs were negative (i.e., hypersensitivity was excluded). Sensitivity for oxaliplatin-specific IgE (0.35 UI/l cutoff point) was 34%, specificity 90.3%, negative predictive value 45.9%, positive predictive value 85%, negative likelihood ratio 0.7, and positive likelihood ratio 3.5. These are the first reported data based on more than 100 DPTs with antineoplastic and biological agents (paclitaxel, oxaliplatin, rituximab, infliximab, irinotecan, and other drugs). Implementation of DPT in diagnostic protocols helps exclude hypersensitivity (in 36% of all referred patients), and avoids unnecessary desensitizations in nonhypersensitive patients (30-56% of patients, depending on culprit-drug). Drug provocation test is vital to validate diagnostic tools; consequently, quality data are shown on oxaliplatin-specific IgE and oxaliplatin-ST in the largest series of oxaliplatin-reactive patients reported to date (74 oxaliplatin-reactive patients). Identifying phenotypes and predictors of a diagnosis of hypersensitivity may be helpful for tailored plans. © 2015 John Wiley & Sons A/S. Published by

  16. Diagnostic value of prenatal ultrasonography in detection the fetal eye abnormalities%产前超声检测胎儿眼部异常的价值

    Institute of Scientific and Technical Information of China (English)

    黄苑铭; 饶金; 黄冬平; 陈燕; 马小燕

    2011-01-01

    Objective To evaluate the value of prenatal ultrasonography in detection the fetal eye abnormalities. Methods Prenatal ultrasonography was performed in 3400 fetuses, 20 cases of fetal eye abnormalities were found. The fetal eye abnormalities were classified according to the sonographic characteristics and autopsy results. Results Among the 20 cases of fetal eye abnormalities, 2 microph thalmia, 6 ocular hypotelorism and cyclopia all combined with holoprosencephaly, 5 anophthalmos( including 2 bilateral anophthalmos and 3 unilateral anophthalmia ), 1 persistent hyperplastic primary vitreous, 6 ocular hypertelorism ( including 4 cases concomitant multiple abnormalities, 1 case of minor anomaly and 1 case of median cleft face syndrome ). Fifteen cases were determined after termination of pregnancy and 5 cases missed following up. Conclusion Ultrasonography can directly display the fetal eye structures, and play an important role in detecting and diagnosing for type of fetal eye abnormalities.%目的 探讨产前超声诊断胎儿眼部结构畸形的应用价值.方法 应用二维超声对3400例胎儿眼部进行检查,结合声像图特征及引产后尸解结果对眼部异常病例进行分类诊断.结果 3400例胎儿中检出眼部结构异常20例,其中小眼畸形2例,眼距过窄及独眼6例(均合并全前脑),无眼畸形5例(双侧无眼2例,单侧无眼3例),原始玻璃体残留组织增生症(PHPV)1 例,眼距过宽6例(4例合并多发畸形,1例合并微小畸形,1例为正中面裂综合征);经引产后证实产前超声诊断眼部异常正确15例,5例失随访.结论 超声能直观显示胎儿眼部结构,在胎儿眼部畸形的检出及分类诊断方面有重要作用.

  17. Methodological deficits in diagnostic research using '-omics' technologies: evaluation of the QUADOMICS tool and quality of recently published studies.

    Directory of Open Access Journals (Sweden)

    Lucy A Parker

    Full Text Available BACKGROUND: QUADOMICS is an adaptation of QUADAS (a quality assessment tool for use in systematic reviews of diagnostic accuracy studies, which takes into account the particular challenges presented by '-omics' based technologies. Our primary objective was to evaluate the applicability and consistency of QUADOMICS. Subsequently we evaluated and describe the methodological quality of a sample of recently published studies using the tool. METHODOLOGY/PRINCIPAL FINDINGS: 45'-omics'-based diagnostic studies were identified by systematic search of Pubmed using suitable MeSH terms ("Genomics", "Sensitivity and specificity", "Diagnosis". Three investigators independently assessed the quality of the articles using QUADOMICS and met to compare observations and generate a consensus. Consistency and applicability was assessed by comparing each reviewer's original rating with the consensus. Methodological quality was described using the consensus rating. Agreement was above 80% for all three reviewers. Four items presented difficulties with application, mostly due to the lack of a clearly defined gold standard. Methodological quality of our sample was poor; studies met roughly half of the applied criteria (mean +/- sd, 54.7+/-18.4%. Few studies were carried out in a population that mirrored the clinical situation in which the test would be used in practice, (6, 13.3%; none described patient recruitment sufficiently; and less than half described clinical and physiological factors that might influence the biomarker profile (20, 44.4%. CONCLUSIONS: The QUADOMICS tool can consistently be applied to diagnostic '-omics' studies presently published in biomedical journals. A substantial proportion of reports in this research field fail to address design issues that are fundamental to make inferences relevant for patient care.

  18. A malaria diagnostic tool based on computer vision screening and visualization of Plasmodium falciparum candidate areas in digitized blood smears.

    Directory of Open Access Journals (Sweden)

    Nina Linder

    Full Text Available INTRODUCTION: Microscopy is the gold standard for diagnosis of malaria, however, manual evaluation of blood films is highly dependent on skilled personnel in a time-consuming, error-prone and repetitive process. In this study we propose a method using computer vision detection and visualization of only the diagnostically most relevant sample regions in digitized blood smears. METHODS: Giemsa-stained thin blood films with P. falciparum ring-stage trophozoites (n = 27 and uninfected controls (n = 20 were digitally scanned with an oil immersion objective (0.1 µm/pixel to capture approximately 50,000 erythrocytes per sample. Parasite candidate regions were identified based on color and object size, followed by extraction of image features (local binary patterns, local contrast and Scale-invariant feature transform descriptors used as input to a support vector machine classifier. The classifier was trained on digital slides from ten patients and validated on six samples. RESULTS: The diagnostic accuracy was tested on 31 samples (19 infected and 12 controls. From each digitized area of a blood smear, a panel with the 128 most probable parasite candidate regions was generated. Two expert microscopists were asked to visually inspect the panel on a tablet computer and to judge whether the patient was infected with P. falciparum. The method achieved a diagnostic sensitivity and specificity of 95% and 100% as well as 90% and 100% for the two readers respectively using the diagnostic tool. Parasitemia was separately calculated by the automated system and the correlation coefficient between manual and automated parasitemia counts was 0.97. CONCLUSION: We developed a decision support system for detecting malaria parasites using a computer vision algorithm combined with visualization of sample areas with the highest probability of malaria infection. The system provides a novel method for blood smear screening with a significantly reduced need for

  19. Control Prenatal

    Directory of Open Access Journals (Sweden)

    P. Susana Aguilera, DRA.

    2014-11-01

    Full Text Available Los principales objetivos del control prenatal son identificar aquellos pacientes de mayor riesgo, con el fin de realizar intervenciones en forma oportuna que permitan prevenir dichos riesgos y así lograr un buen resultado perinatal. Esto se realiza a través de la historia médica y reproductiva de la mujer, el examen físico, la realización de algunos exámenes de laboratorio y exámenes de ultrasonido. Además es importante promover estilos de vida saludables, la suplementación de ácido fólico, una consejería nutricional y educación al respecto.

  20. Lessons learned developing a diagnostic tool for HIV-associated dementia feasible to implement in resource-limited settings: pilot testing in Kenya.

    Directory of Open Access Journals (Sweden)

    Judith Kwasa

    Full Text Available To conduct a preliminary evaluation of the utility and reliability of a diagnostic tool for HIV-associated dementia (HAD for use by primary health care workers (HCW which would be feasible to implement in resource-limited settings.In resource-limited settings, HAD is an indication for anti-retroviral therapy regardless of CD4 T-cell count. Anti-retroviral therapy, the treatment for HAD, is now increasingly available in resource-limited settings. Nonetheless, HAD remains under-diagnosed likely because of limited clinical expertise and availability of diagnostic tests. Thus, a simple diagnostic tool which is practical to implement in resource-limited settings is an urgent need.A convenience sample of 30 HIV-infected outpatients was enrolled in Western Kenya. We assessed the sensitivity and specificity of a diagnostic tool for HAD as administered by a primary HCW. This was compared to an expert clinical assessment which included examination by a physician, neuropsychological testing, and in selected cases, brain imaging. Agreement between HCW and an expert examiner on certain tool components was measured using Kappa statistic.The sample was 57% male, mean age was 38.6 years, mean CD4 T-cell count was 323 cells/µL, and 54% had less than a secondary school education. Six (20% of the subjects were diagnosed with HAD by expert clinical assessment. The diagnostic tool was 63% sensitive and 67% specific for HAD. Agreement between HCW and expert examiners was poor for many individual items of the diagnostic tool (K = .03-.65. This diagnostic tool had moderate sensitivity and specificity for HAD. However, reliability was poor, suggesting that substantial training and formal evaluations of training adequacy will be critical to enable HCW to reliably administer a brief diagnostic tool for HAD.

  1. Innovative Tools for Structural Diagnostics of Rotorcraft Fatigue Critical Composite Parts Project

    Data.gov (United States)

    National Aeronautics and Space Administration — We propose the development of a validated analysis tool to characterize manufacturing defects and structural damage in composite parts. The objective of Phase I is...

  2. Laparohysteroscopy in female infertility: A diagnostic cum therapeutic tool in Indian setting

    OpenAIRE

    Puri, Suman; Jain, Dinesh; Puri, Sandeep; Kaushal, Sandeep; Deol, Satjeet Kaur

    2015-01-01

    Aims: To evaluate the role of laparohysteroscopy in female infertility andto study the effect of therapeutic procedures in achieving fertility. Settings and Design: Patients with female infertility presenting to outpatient Department of Obstetrics and Gynecology were evaluated over a period of 18 months. Materials and Methods: Fifty consenting subjects excluding male factor infertility with normal hormonal profile and no contraindication to laparoscopy were subject to diagnostic laparoscopy a...

  3. [Dogs as a diagnostic tool--utopian dream or unexploited possibility?].

    Science.gov (United States)

    Klockars, Tuomas

    2016-01-01

    The dog's sense of smell has been estimated to be as much as 100 000 times more sensitive than that of man. While the dog's sense of smell is utilized by various authorities, medical exploitation of dogs is scarce. A disorder causes in the body metabolic changes, which could possibly be detected by using trained dogs. Promising studies have been published in recent years about the use of diagnostic dogs in identifying cancers or antibiotic-associated diarrhea, for example.

  4. Nanomaterials—Tools, Technology and Methodology of Nanotechnology Based Biomedical Systems for Diagnostics and Therapy

    Directory of Open Access Journals (Sweden)

    Christian Schmidt

    2015-07-01

    Full Text Available Nanomedicine helps to fight diseases at the cellular and molecular level by utilizing unique properties of quasi-atomic particles at a size scale ranging from 1 to 100 nm. Nanoparticles are used in therapeutic and diagnostic approaches, referred to as theranostics. The aim of this review is to illustrate the application of general principles of nanotechnology to select examples of life sciences, molecular medicine and bio-assays. Critical aspects relating to those examples are discussed.

  5. Do recent US Supreme Court rulings on patenting of genes and genetic diagnostics affect the practice of genetic screening and diagnosis in prenatal and reproductive care?

    Science.gov (United States)

    Chandrasekharan, Subhashini; McGuire, Amy L; Van den Veyver, Ignatia B

    2014-10-01

    Thousands of patents have been awarded that claim human gene sequences and their uses, and some have been challenged in court. In a recent high-profile case, Association for Molecular Pathology, et al. v. Myriad Genetics, Inc., et al., the US Supreme Court ruled that genes are natural occurring substances and therefore not patentable through 'composition of matter' claims. The consequences of this ruling will extend well beyond ending Myriad's monopoly over BRCA testing and may affect similar monopolies of other commercial laboratories for tests involving other genes. It could also simplify intellectual property issues surrounding genome-wide clinical sequencing, which can generate results for genes covered by intellectual property. Non-invasive prenatal testing (NIPT) for common aneuploidies using cell-free fetal (cff) DNA in maternal blood is currently offered through commercial laboratories and is also the subject of ongoing patent litigation. The recent Supreme Court decision in the Myriad case has already been invoked by a lower district court in NIPT litigation and resulted in invalidation of primary claims in a patent on currently marketed cffDNA-based testing for chromosomal aneuploidies.

  6. DEVELOPMENT OF SIGNAL PROCESSING TOOLS AND HARDWARE FOR PIEZOELECTRIC SENSOR DIAGNOSTIC PROCESSES

    Energy Technology Data Exchange (ETDEWEB)

    OVERLY, TIMOTHY G. [Los Alamos National Laboratory; PARK, GYUHAE [Los Alamos National Laboratory; FARRAR, CHARLES R. [Los Alamos National Laboratory

    2007-02-09

    This paper presents a piezoelectric sensor diagnostic and validation procedure that performs in -situ monitoring of the operational status of piezoelectric (PZT) sensor/actuator arrays used in structural health monitoring (SHM) applications. The validation of the proper function of a sensor/actuator array during operation, is a critical component to a complete and robust SHM system, especially with the large number of active sensors typically involved. The method of this technique used to obtain the health of the PZT transducers is to track their capacitive value, this value manifests in the imaginary part of measured electrical admittance. Degradation of the mechanical/electric properties of a PZT sensor/actuator as well as bonding defects between a PZT patch and a host structure can be identified with the proposed procedure. However, it was found that temperature variations and changes in sensor boundary conditions manifest themselves in similar ways in the measured electrical admittances. Therefore, they examined the effects of temperature variation and sensor boundary conditions on the sensor diagnostic process. The objective of this study is to quantify and classify several key characteristics of temperature change and to develop efficient signal processing techniques to account for those variations in the sensor diagnostis process. In addition, they developed hardware capable of making the necessary measurements to perform the sensor diagnostics and to make impedance-based SHM measurements. The paper concludes with experimental results to demonstrate the effectiveness of the proposed technique.

  7. Coronary CT Angiography as a Diagnostic and Prognostic Tool: Perspectives from the SCOT-HEART Trial.

    Science.gov (United States)

    Doris, Mhairi; Newby, David E

    2016-02-01

    Coronary artery disease is the leading cause of death worldwide. Many trials to date have investigated the diagnostic accuracy of coronary computed tomography angiography (CCTA) when compared to the gold standard diagnostic test, invasive coronary angiography. However, whether the use of a non-invasive anatomical test, such as CCTA, can translate into improved patient risk stratification, management and outcome has yet to be established. The Scottish COmputed Tomography of the HEART (SCOT-HEART) trial sought to address these questions and determined whether CCTA, when used in addition to standard care, could aid the diagnosis, further investigation and treatment of patients referred to the cardiology clinic with suspected angina due to coronary heart disease. In this trial, CCTA clarified the diagnosis of angina due to coronary heart disease in a quarter of patients and this led to major alterations in treatment and management that appeared to reduce the risk of subsequent coronary heart disease death or non-fatal myocardial infarction. The SCOT-Heart trial has established that CCTA is a valuable diagnostic test in patients with suspected angina pectoris due to coronary heart disease and leads to greater clarity, more focused appropriate treatments and better coronary heart disease outcomes.

  8. Non-Coding RNAs in Lung Cancer: Contribution of Bioinformatics Analysis to the Development of Non-Invasive Diagnostic Tools

    Science.gov (United States)

    Kunz, Meik; Wolf, Beat; Schulze, Harald; Atlan, David; Walles, Thorsten; Walles, Heike; Dandekar, Thomas

    2016-01-01

    Lung cancer is currently the leading cause of cancer related mortality due to late diagnosis and limited treatment intervention. Non-coding RNAs are not translated into proteins and have emerged as fundamental regulators of gene expression. Recent studies reported that microRNAs and long non-coding RNAs are involved in lung cancer development and progression. Moreover, they appear as new promising non-invasive biomarkers for early lung cancer diagnosis. Here, we highlight their potential as biomarker in lung cancer and present how bioinformatics can contribute to the development of non-invasive diagnostic tools. For this, we discuss several bioinformatics algorithms and software tools for a comprehensive understanding and functional characterization of microRNAs and long non-coding RNAs. PMID:28035947

  9. A retrospective analysis between indications for the invasive prenatal diagnostics and chromosomal karyotypes for 2371 cases%2371例孕妇产前诊断的指证及其结果分析

    Institute of Scientific and Technical Information of China (English)

    司红卫

    2012-01-01

    目的 分析产前诊断指证与胎儿染色体检测结果的关系.方法 2371例有产前诊断指证的孕妇,进行羊膜腔穿刺或脐静脉穿刺术,取羊水细胞或脐血细胞培养,作胎儿染色体核型分析.结果 2371例孕妇共检出胎儿染色体异常60例,染色体异常率为2.53%,显著高于一般人群的异常率(P<0.01).其中孕母血清唐氏筛查阳性组和高龄孕妇组的异常率分别为1.63% (13/794)、2.32% (15/646),产前胎儿超声异常标记组胎儿染色体异常率16.12% (15/93),夫妇一方为染色体平衡易位携带者组的胎儿染色体异常率达71.4% (5/7),21-三体儿检出25例,占异常率的41.67%(25/60),其中一例连续两次诊断出21-三体儿.结论 出现胎儿染色体异常率最高的指证,依次为平衡易位携带、产前超声发现胎儿异常标记、高龄孕妇、孕母血清唐氏筛查阳性.掌握好产前诊断指证,可更有价值地控制和减少出生缺陷的发生.%Objective: To analyze indications for the invasive prenatal diagnostics and chromosomal karyotypes. Methods: A total of 2371 cases for prenatal diagnosis in our hospital was enrolled into this study. These women were in the second and thirdtrimester of pregnancy. Fetalblood and amniotiefluid from these women were obtained. And chromosomal karyotypes were determined. Results: Among 2371 cases, 60 cases of fetus' chromosomal abnormalities were detected, and the abnormal incidence was 2.53%. In groups of parental balanced chromosome rearrangements , abnormal ultrasonography markers, maternal serum Downs syndrome screening positive, and advanced maternal age, the abnormal incidences were 71. 4% (5/7), 16.12% (15/93), 1.63% (13/794), 2.32% (15/646), respectively. Except 1 case have twice trisomy 21, no fetus's chromosomal abnormality was observed in groups of triso-myl8, 21 pregnant history and possible teratogenic exposure. Conclusion; In the pregnant women with prenatal diagnosis, the highest

  10. 室间隔完整型肺动脉闭锁的产前超声诊断价值分析%Diagnostic value of pulmonary atresia with intact ventricular septum by prenatal echocardiography

    Institute of Scientific and Technical Information of China (English)

    杨萍; 葛群; 张玉奇; 王凤蕾; 张志芳; 江丽

    2014-01-01

    Objective To evaluate the diagnostic value of prenatal echocardiography in pulmonary atresia with intact ven‐tricular septum (PA/IVS) ,to analyze the reasons of misdiagnosed and to improve the echocardiographic diagnosis .Meth‐ods A retrospective echocardiographic review was performed on 19 fetus with PA/IVS confirmed by prenatal magnetic resonance imaging (MRI) or postnatal echocardiography .Results More common findings of PA/IVS were tricuspid valve regurgitation in 19 cases (100% ) ,reversed flow through ductus arteriosus by color Doppler flow imaging in 18 cases (94.7% ) ,and right ventricular hypoplasia in 13 cases(68 .4% ) .Among 19 PA/IVS fetus ,16 cases (84 .2% ) were diag‐nosed correctly by echocardiography .In the remaining 3 cases (15 .8% ) ,1 case with pulmonary valve stenosis ,tricuspid valve regurgitation and right ventricular hypoplasia and 1 case with mild tricuspid valve regurgitation were diagnosed by prenatal echocardiography ,1 case with intramyocardial sinusoids was misdiagnosed .Conclusion Combining visualization of PA/IVS in four‐chamber view ,outflow tract view ,and three vessels view ,PA/IVS could be accurately diagnosed by prenatal echocardiography ,but it should be differentiated from critical pulmonary valve stenosis .%目的:评价超声心动图对室间隔完整型肺动脉闭锁伴(PA/IVS )的产前诊断价值,分析超声心动图误诊的原因,旨在提高超声心动图对胎儿PA/IVS诊断的正确性。方法回顾性分析19例经胎儿核磁共振(M RI)或出生后超声心动图诊断为PA/IVS的产前超声资料。结果 PA/IVS最常见的超声征象为三尖瓣反流19例(100%)、动脉导管内逆向血流18例(94.7%)及右心室肥厚伴心腔小13例(68.4%)。19例 PA/IVS 胎儿超声心动图诊断正确16例,占84.2%;漏、误诊3例,占15.8%;误诊2例,其中1例产前超声心动图误诊为肺动脉瓣重度狭窄、三尖瓣重度反流,1

  11. Fluorescence in situ hybridisation analysis of bone marrow trephine biopsy specimens; an additional tool in the diagnostic armoury.

    Science.gov (United States)

    Neat, Michael J; Moonim, Mufaddal T; Dunn, Robert G; Geoghegan, Helen; Foot, Nicola J

    2013-01-01

    Fluorescence in situ hybridisation (FISH) analysis is now widely employed in the diagnosis and risk stratification of a wide range of malignant diseases. While this technique is used successfully with formalin-fixed paraffin-embedded (FFPE) sections from numerous tissue types, FISH analysis of FFPE tissue sections from trephine biopsy specimens has been less widely reported, possibly due to technical limitations relating to the decalcification protocols employed. During the last 4 years FISH analysis has been carried out successfully in 42 out of 55 (76%) consecutive trephine biopsy specimens received as part of the standard diagnostic service at our institution. Samples decalcified using EDTA-based protocols were analysed successfully in 31/31 cases (100%), whereas only 11/24 samples (46%) decalcified using formic acid-based protocols were successful. In our experience, FISH analysis of trephine biopsy specimens is a highly reproducible technique and a very useful adjunctive tool in the diagnostic armoury; however, its use in a standard diagnostic setting relies on the use of EDTA-based decalcification protocols.

  12. Bacterial clonal diagnostics as a tool for evidence-based empiric antibiotic selection.

    Science.gov (United States)

    Tchesnokova, Veronika; Avagyan, Hovhannes; Rechkina, Elena; Chan, Diana; Muradova, Mariya; Haile, Helen Ghirmai; Radey, Matthew; Weissman, Scott; Riddell, Kim; Scholes, Delia; Johnson, James R; Sokurenko, Evgeni V

    2017-01-01

    Despite the known clonal distribution of antibiotic resistance in many bacteria, empiric (pre-culture) antibiotic selection still relies heavily on species-level cumulative antibiograms, resulting in overuse of broad-spectrum agents and excessive antibiotic/pathogen mismatch. Urinary tract infections (UTIs), which account for a large share of antibiotic use, are caused predominantly by Escherichia coli, a highly clonal pathogen. In an observational clinical cohort study of urgent care patients with suspected UTI, we assessed the potential for E. coli clonal-level antibiograms to improve empiric antibiotic selection. A novel PCR-based clonotyping assay was applied to fresh urine samples to rapidly detect E. coli and the urine strain's clonotype. Based on a database of clonotype-specific antibiograms, the acceptability of various antibiotics for empiric therapy was inferred using a 20%, 10%, and 30% allowed resistance threshold. The test's performance characteristics and possible effects on prescribing were assessed. The rapid test identified E. coli clonotypes directly in patients' urine within 25-35 minutes, with high specificity and sensitivity compared to culture. Antibiotic selection based on a clonotype-specific antibiogram could reduce the relative likelihood of antibiotic/pathogen mismatch by ≥ 60%. Compared to observed prescribing patterns, clonal diagnostics-guided antibiotic selection could safely double the use of trimethoprim/sulfamethoxazole and minimize fluoroquinolone use. In summary, a rapid clonotyping test showed promise for improving empiric antibiotic prescribing for E. coli UTI, including reversing preferential use of fluoroquinolones over trimethoprim/sulfamethoxazole. The clonal diagnostics approach merges epidemiologic surveillance, antimicrobial stewardship, and molecular diagnostics to bring evidence-based medicine directly to the point of care.

  13. Evaluation of real-time PCR for Strongyloides stercoralis and hookworm as diagnostic tool in asymptomatic schoolchildren in Cambodia.

    Science.gov (United States)

    Schär, Fabian; Odermatt, Peter; Khieu, Virak; Panning, Marcus; Duong, Socheat; Muth, Sinuon; Marti, Hanspeter; Kramme, Stefanie

    2013-05-01

    Diagnosis of soil-transmitted helminths such as Strongyloides stercoralis and hookworms (Ancylostoma duodenale and Necator americanus) is challenging due to irregular larval and egg output in infected individuals and insensitive conventional diagnostic procedures. Sensitive novel real-time PCR assays have been developed. Our study aimed to evaluate the real-time PCR assays as a diagnostic tool for detection of Strongyloides spp. and hookworms in a random stool sample of 218 asymptomatic schoolchildren in Cambodia. Overall prevalence of 17.4% (38/218) and 34.9% (76/218) were determined by real-time PCR for S. stercoralis and hookworms, respectively. Sensitivity and specificity of S. stercoralis specific real-time PCR as compared to the combination of Baermann/Koga Agar as gold standard were 88.9% and 92.7%, respectively. For hookworm specific real-time PCR a sensitivity of 78.9% and specificity of 78.9% were calculated. Co-infections were detectable by PCR in 12.8% (28/218) of individuals. S. stercoralis real-time PCR applied in asymptomatic cases showed a lower sensitivity compared to studies undertaken with symptomatic patients with the same molecular tool, yet it proved to be a valid supplement in the diagnosis of STH infection in Cambodia.

  14. Ultraviolet-visible and fluorescence spectroscopy can be used as a diagnostic tool for gamma irradiation detection in vivo.

    Science.gov (United States)

    K-Abdelhalim, Mohamed Anwar; Moussa, Sherif A-Abdelmottaleb

    2016-09-01

    The spectroscopic properties can indicate important features about the nature and severity of the disease. However, no earlier studies have been used the spectroscopic properties as a diagnostic tool for radiation detection. This study was aimed to use ultraviolet-visible and fluorescence spectroscopy as a diagnostic tool for gamma irradiation detection in rats in vivo. Adult male rats were exposed to 25, 50, 75 and 100 Gray as single dose, using Cobalt-60 (Co-60) source with a dose rate of 0.883 centi Gray/sec (cGy/s). Ultraviolet and fluorescence spectroscopy of rat's blood serum were measured. After gamma irradiation of rats in vivo, the blood serum absorbance peaks for 25, 50, 75 and 100 Gray (Gy) decreased and shifted towards the ultra violet wavelength. A maximal change in fluorescence intensity of blood serum at 350 nm was obtained when exciting light at 194 nm after irradiation. The fluorescence intensity also decreased with the dose. The highest radiation gamma dose might be accompanied with the highest oxidative stress. This study suggests that at the above mentioned gamma radiation doses, the blood is highly fragmented; with low aggregation at 25 Gy and with high aggregation at 50-100 Gy.

  15. SDA-Based Diagnostic and Analysis Tools for Collider Run II

    CERN Document Server

    Papadimitriou, Vaia; Lebrun, Paul; Panacek, S; Slaughter, Anna Jean; Xiao, Aimin

    2005-01-01

    Operating and improving the understanding of the Fermilab Accelerator Complex for the colliding beam experiments requires advanced software methods and tools. The Shot Data Acquisition and Analysis (SDA) has been developed to fulfill this need. Data is stored in a relational database, and is served to programs and users via Web-based tools. Summary tables are systematically generated during and after a store. These tables, the Supertable, and the Recomputed Emittances and Recomputed Intensity tables are discussed here. This information is also accesible in JAS3 (Java Analysis Studio version 3).

  16. A contactless microwave-based diagnostic tool for high repetition rate laser systems

    CERN Document Server

    Braggio, C

    2014-01-01

    We report on a novel electro-optic device for the diagnostics of high repetition rate laser systems. It is composed of a microwave receiver and of a second order nonlinear crystal, whose irradiation with a train of short laser pulses produces a time-dependent polarization in the crystal itself as a consequence of optical rectification. This process gives rise to the emission of microwave radiation that is detected by a receiver and is analyzed to infer the repetition rate and intensity of the pulses. We believe that this new method may overcome some of the limitations of photodetection techniques.

  17. AMACR is not applicable as a diagnostic tool in hepatocellular carcinoma

    DEFF Research Database (Denmark)

    Willemoe, Gro Linno; Vainer, Ben

    2010-01-01

    Alpha-methylacyl coenzyme A racemase (AMACR or P504S) is a mitochondrial and peroxisomal protein present in a variety of human cells. Demonstration of increased expression is used diagnostically in prostatic adenocarcinoma. AMACR is also produced by normal hepatocytes and it has been postulated...... that the demonstration of AMACR expression or its pattern of distribution is useful in the diagnosis of hepatocellular carcinoma (HCC) (Jiang et al., Hum Pathol 2003;34, Guzman et al., Appl Immunohistochem Mol Morphol 2006;14, Li et al., J Exp Clin Cancer Res 2008;27). The aim of the present study was to evaluate...

  18. L-Shell Spectroscopy of Au as a Temperature Diagnostic Tool

    Energy Technology Data Exchange (ETDEWEB)

    Trabert, E; Hansen, S B; Beiersdorfer, P; Brown, G V; Widmann, K; Chung, H K

    2008-03-27

    In order to develop plasma diagnostic for reduced-size hot hohlraums under laser irradiation, they have studied the L-shell emission from highly charged gold ions in the SuperEBIT electron beam ion trap. The resolving power necessary to identify emission features from individual charge states in a picket fence pattern has been estimated, and the observed radiation features have been compared with atomic structure calculations. They find that the strong 3d{sub 5/2} {yields} 2p{sub 3/2} emission features are particularly useful in determining the charge state distribution and average ion charge , which are strongly sensitive to the electron temperature.

  19. Phase-contrast enhanced mammography: A new diagnostic tool for breast imaging

    Energy Technology Data Exchange (ETDEWEB)

    Wang Zhentian; Thuering, Thomas; David, Christian; Roessl, Ewald; Trippel, Mafalda; Kubik-Huch, Rahel A.; Singer, Gad; Hohl, Michael K.; Hauser, Nik; Stampanoni, Marco [Swiss Light Source, Paul Scherrer Institut, 5232 Villigen (Switzerland); Laboratory for Micro and Nanotechnology, Paul Scherrer Institut, 5232 Villigen (Switzerland); Philips Technologie GmbH, Roentgenstrasse 24, 22335 Hamburg (Germany); Institute of Pathology, Kantonsspital Baden, 5404 Baden (Switzerland); Department of Radiology, Kantonsspital Baden, 5404 Baden (Switzerland); Institute of Pathology, Kantonsspital Baden, 5404 Baden (Switzerland); Department of Gynecology and Obstetrics, Interdisciplinary Breast Center Baden, Kantonsspital Baden, 5404 Baden (Switzerland); Swiss Light Source, Paul Scherrer Institut, 5232 Villigen, Switzerland and Institute for Biomedical Engineering, University and ETH Zuerich, 8092 Zuerich (Switzerland)

    2012-07-31

    Phase contrast and scattering-based X-ray imaging can potentially revolutionize the radiological approach to breast imaging by providing additional and complementary information to conventional, absorption-based methods. We investigated native, non-fixed whole breast samples using a grating interferometer with an X-ray tube-based configuration. Our approach simultaneously recorded absorption, differential phase contrast and small-angle scattering signals. The results show that this novel technique - combined with a dedicated image fusion algorithm - has the potential to deliver enhanced breast imaging with complementary information for an improved diagnostic process.

  20. DIAGNOSIS OF ABDOMINAL TUBERCULOSIS IN CHRONIC ABDO MINAL PAIN: LAPAROSCOPY AS AN EFFECTIVE DIAGNOSTIC TOOL

    Directory of Open Access Journals (Sweden)

    Rajiv

    2013-04-01

    Full Text Available ABSTRACT: Chronic abdominal pain is a FREQUENTLY ENCOUNTERED pr oblem and abdominal tuberculosis is a very common cause of the same. Di agnostic laparoscopy is a highly sensitive, specific, and safe procedure for the early diagnosis of abdominal tuberculosis. The procedure is beneficial because it is minimally invasive and prov ides diagnostic benefit in terms of both visual appearances and tissue yield for histopathologi cal and cytological confirmation. We have performed an extensive retrospective study with 250 s ubjects and were able to justify the safety, sensitivity & early selection of laparoscopy as a procedure of choice to confirm tuberculosis in chronic abdominal pain.

  1. Conflict management, Part 1. Conflict management checklist: a diagnostic tool for assessing conflict in organizations.

    Science.gov (United States)

    Siders, C T; Aschenbrener, C A

    1999-01-01

    Complex interpersonal conflicts are inevitable in the high speed, high stakes, pressured work of health care. Poorly managed, conflict saps productivity, erodes trust, and spawns additional disputes. Well managed, conflict can enhance the self-confidence and self-esteem of the parties, build relationships, and engender creative solutions beyond expectations. Just as thoughtful differential diagnosis precedes optimum treatment in the doctor-patient relationship, management of conflict is greatly enhanced when preceded by careful assessment. In the first of two articles, the authors present a diagnostic approach, the Conflict Management Checklist, to increase self-awareness and decrease anxiety around conflict.

  2. SU-E-J-17: A Study of Accelerator-Induced Cerenkov Radiation as a Beam Diagnostic and Dosimetry Tool

    Energy Technology Data Exchange (ETDEWEB)

    Bateman, F; Tosh, R [NIST, Gaithersburg, MD (United States)

    2014-06-01

    Purpose: To investigate accelerator-induced Cerenkov radiation imaging as a possible beam diagnostic and medical dosimetry tool. Methods: Cerenkov emission produced by clinical accelerator beams in a water phantom was imaged using a camera system comprised of a high-sensitivity thermoelectrically-cooled CCD camera coupled to a large aperture (f/0.75) objective lens with 16:1 magnification. This large format lens allows a significant amount of the available Cerenkov light to be collected and focused onto the CCD camera to form the image. Preliminary images, obtained with 6 MV photon beams, used an unshielded camera mounted horizontally with the beam normal to the water surface, and confirmed the detection of Cerenkov radiation. Several improvements were subsequently made including the addition of radiation shielding around the camera, and altering of the beam and camera angles to give a more favorable geometry for Cerenkov light collection. A detailed study was then undertaken over a range of electron and photon beam energies and dose rates to investigate the possibility of using this technique for beam diagnostics and dosimetry. Results: A series of images were obtained at a fixed dose rate over a range of electron energies from 6 to 20 MeV. The location of maximum intensity was found to vary linearly with the energy of the beam. A linear relationship was also found between the light observed from a fixed point on the central axis and the dose rate for both photon and electron beams. Conclusion: We have found that the analysis of images of beam-induced Cerenkov light in a water phantom has potential for use as a beam diagnostic and medical dosimetry tool. Our future goals include the calibration of the light output in terms of radiation dose and development of a tomographic system for 3D Cerenkov imaging in water phantoms and other media.

  3. A Pilot Study for the Evaluation of PCR as a Diagnostic Tool in Patients with Suspected Dermatophytoses.

    Science.gov (United States)

    Sharma, Robin; Gupta, Samiksha; Asati, Dinesh P; Karuna, T; Purwar, Shashank; Biswas, Debasis

    2017-01-01

    The conventional diagnostic tools for dermatophytoses suffer from several limitations including low sensitivity, specificity, and long turn-around-time. The present study was, therefore, performed to evaluate the performance of a polymerase chain reaction (PCR)-based method for the diagnosis of this condition. The study was conducted in the Dermatology outpatient department of a tertiary care teaching hospital in central India over a period of 3 months from July to September 2015. Forty participants, including 25 cases and 15 controls, were recruited in this observational study. Direct microscopy and fungal culture were performed from skin scrapings and nail clippings collected from the participants. PCR was also performed to amplify the chitin synthase 1 and internal transcribed spacer 2 genes from DNA samples extracted from the same clinical materials, using the method reported by Brillowska-Dabrowska et al. The diagnostic performance of fungal culture and PCR was compared using OpenEpi software. We observed a significant male predominance among patients with dermatophytoses. The sensitivity of fungal culture and dermatophyte PCR to diagnose dermatophytoses was 24% and 48%, respectively, whereas the specificity of the two assays was 100% and 93.3%, respectively. The likelihood ratio of a positive PCR assay was 7.2 and the negative likelihood ratio was 0.5. PCR assay also delivered a significant shortening of the time-to-diagnosis, with the mean turn-around-time being 8 hours and 14 days for PCR and culture, respectively. This study, thus, highlights the potential merits of the dermatophyte PCR assay in achieving a rapid diagnosis of dermatophytoses and underscores its utility as a complementary test to improve the sensitivity of the conventional diagnostic tools for this condition, as well as to reliably differentiate this condition from other similar skin conditions.

  4. 产前超声在前脑无裂畸形诊断中的临床价值分析%Diagnostic value of prenatal ultrasound to fetal holoprosencephaly

    Institute of Scientific and Technical Information of China (English)

    林毅; 雷芳

    2014-01-01

    目的:探讨分析产前超声在前脑无裂畸形诊断中的临床价值。方法选取2010年1月至2013年1月接受产前胎儿系统超声检查的15000例孕妇资料进行回顾性分析。结果15000例接受产前胎儿系统超声检查的孕妇中共有11例胎儿被检出存在前脑无裂畸形的现象。其中5例为无叶全前脑畸形,3例胎儿的超声图片显示为半叶前脑无裂畸形,3例胎儿的超声图片信息显示为叶状前脑无裂畸形。合并畸形的情况为3例胎儿为唇腭裂畸形,1例胎儿为无鼻畸形,1例胎儿为眼距畸形,2例胎儿为dandy-w alker综合征。此外还有2例胎儿为羊水多,1例为多囊肾。11例胎儿经过尸检后证实为前脑无裂畸形。结论产前超声检查在前脑无裂畸形诊断中的准确率较高,临床价值较高,值得推广。%Objective To explore the diagnostic value of prenatal ultrasound to fetal holoprosencephaly .Meth-ods A total of 15 000 cases ,receiving ultrasonography examination during Jan .2010 to Jan .2013 in this hospital were chosen to be analyzed .Results Among all 15 000 cases ,11 cases were found as holoprosencephaly ,of which 5 cases were non-forebrain-cleaved deformity ,3 cases were semi- forebrain-cleaved deformity ,and 3 cases were fore-brain-cleaved deformity .3 cases were combined with cleft lips ,1 case was combined with no nose ,1 case was com-bined with eyes distance deformity ,and 2 cases were combined with dandy-walker syndrome .2 cases were polyhydr-amnios ,and 1 case was polycystic kidney .All of the 11 cases were confirmed by corpses .Conclusion The accuracy of prenatal ultrasonography could be high ,and be with important diagnostic value for prenatal diagnosis ,which might be worth to be promoted .

  5. Toward an Attention-Based Diagnostic Tool for Patients With Locked-in Syndrome

    NARCIS (Netherlands)

    Lesenfants, Damien; Habbal, Dina; Chatelle, Camille; Soddu, Andrea; Laureys, Steven; Noirhomme, Quentin

    2016-01-01

    Electroencephalography (EEG) has been proposed as a supplemental tool for reducing clinical misdiagnosis in severely brain-injured populations helping to distinguish conscious from unconscious patients. We studied the use of spectral entropy as a measure of focal attention in order to develop a moto

  6. Current immunological and molecular tools for leptospirosis: diagnostics, vaccine design, and biomarkers for predicting severity.

    Science.gov (United States)

    Rajapakse, Senaka; Rodrigo, Chaturaka; Handunnetti, Shiroma M; Fernando, Sumadhya Deepika

    2015-01-16

    Leptospirosis is a zoonotic spirochaetal illness that is endemic in many tropical countries. The research base on leptospirosis is not as strong as other tropical infections such as malaria. However, it is a lethal infection that can attack many vital organs in its severe form, leading to multi-organ dysfunction syndrome and death. There are many gaps in knowledge regarding the pathophysiology of leptospirosis and the role of host immunity in causing symptoms. This hinders essential steps in combating disease, such as developing a potential vaccine. Another major problem with leptospirosis is the lack of an easy to perform, accurate diagnostic tests. Many clinicians in resource limited settings resort to clinical judgment in diagnosing leptospirosis. This is unfortunate, as many other diseases such as dengue, hanta virus, rickettsial infections, and even severe bacterial sepsis, can mimic leptospirosis. Another interesting problem is the prediction of disease severity at the onset of the illness. The majority of patients recover from leptospirosis with only a mild febrile illness, while a few others have severe illness with multi-organ failure. Clinical features are poor predictors of potential severity of infection, and therefore the search is on for potential biomarkers that can serve as early warnings for severe disease. This review concentrates on these three important aspects of this neglected tropical disease: diagnostics, developing a vaccine, and potential biomarkers to predict disease severity.

  7. Exploiting the Campylobacter jejuni protein glycosylation system for glycoengineering vaccines and diagnostic tools directed against brucellosis

    Directory of Open Access Journals (Sweden)

    Iwashkiw Jeremy A

    2012-01-01

    Full Text Available Abstract Background Immune responses directed towards surface polysaccharides conjugated to proteins are effective in preventing colonization and infection of bacterial pathogens. Presently, the production of these conjugate vaccines requires intricate synthetic chemistry for obtaining, activating, and attaching the polysaccharides to protein carriers. Glycoproteins generated by engineering bacterial glycosylation machineries have been proposed to be a viable alternative to traditional conjugation methods. Results In this work we expressed the C. jejuni oligosaccharyltansferase (OTase PglB, responsible for N-linked protein glycosylation together with a suitable acceptor protein (AcrA in Yersinia enterocolitica O9 cells. MS analysis of the acceptor protein demonstrated the transfer of a polymer of N-formylperosamine to AcrA in vivo. Because Y. enterocolitica O9 and Brucella abortus share an identical O polysaccharide structure, we explored the application of the resulting glycoprotein in vaccinology and diagnostics of brucellosis, one of the most common zoonotic diseases with over half a million new cases annually. Injection of the glycoprotein into mice generated an IgG response that recognized the O antigen of Brucella, although this response was not protective against a challenge with a virulent B. abortus strain. The recombinant glycoprotein coated onto magnetic beads was efficient in differentiating between naïve and infected bovine sera. Conclusion Bacterial engineered glycoproteins show promising applications for the development on an array of diagnostics and immunoprotective opportunities in the future.

  8. Interferon-gamma producing regulatory T cells as a diagnostic and therapeutic tool in organ transplantation.

    Science.gov (United States)

    Daniel, Volker; Wang, Haihao; Sadeghi, Mahmoud; Opelz, Gerhard

    2014-01-01

    There is increasing evidence that IFNg plays a major role in both induction of Tregs as well as immunosuppression mediated by IFNg-producing Tregs. The present review focuses on a small subset of iTregs that produces IFNg, comprises only 0.04% of all CD4(+) T lymphocytes in the blood of healthy individuals, and increases strongly during an immune response. IFNg(+) Tregs are induced by IFNg and IL12, making them sensors for inflammatory cytokines. They develop rapidly during inflammation and represent the first line of Tregs that suppress initial immune responses. The pool of IFNg(+) Tregs consists of activated stable immunosuppressive thymus-derived nTregs as well as peripherally proliferating iTregs with in part only transient immunosuppressive function, which limits their diagnostic and therapeutic usefulness in organ transplantation. Apparently, a part of IFNg(+) Tregs dies during the immune response, whereas others, after efficient immunosuppression with resolution of the immune response, differentiate toward Th1 lymphocytes. Goals of further research are the development of appropriate diagnostic tests for rapid and exact determinination of immunosuppressive IFNg(+) iTregs, as well as the induction and propagation of stable immunosuppressive IFNg(+) Tregs that establish and maintain good long-term graft function in transplant recipients.

  9. CENTRAL NERVOUS SYSTEM INVOLVEMENT IN ADULT ACUTE LYMPHOBLASTIC LEUKEMIA: DIAGNOSTIC TOOLS, PROPHYLAXIS AND THERAPY

    Directory of Open Access Journals (Sweden)

    Maria Ilaria Del Principe

    2014-11-01

    Full Text Available In adult patients with acute lymphoblastic leukemia (ALL, Central Nervous System (CNS involvement is associated with a very poor prognosis. The diagnostic assessment of this condition relies on the use of neuroradiology, conventional cytology (CC and flow cytometry (FCM. Among these approaches, which is the gold standard it is still a matter of debate. Neuroradiology and CC have a limited sensitivity with a higher rate of false negative results. FCM demonstrated a superior sensitivity over CC, particularly when low levels of CNS infiltrating cells are present. Although prospective studies of large series of patients are still awaited, a positive finding by FCM appears to anticipate an adverse outcome even if CC shows no infiltration. Current strategies for adult ALL CNS-directed prophylaxis or therapy involve systemic and intrathecal chemotherapy and radiation therapy. Actually, early and frequent intrathecal injection of cytostatic combined with systemic chemotherapy is the most effective strategy to reduce the frequency of CNS involvement. In patients with CNS overt ALL, at diagnosis or upon relapse, allogenic hematopoietic stem cell transplantation might be considered. This review will discuss risk factors, diagnostic techniques for identification of CNS infiltration and modalities of prophylaxis and therapy to manage it.

  10. Development of RAD-Score: A Tool to Assess the Procedural Competence of Diagnostic Radiology Residents.

    Science.gov (United States)

    Isupov, Inga; McInnes, Matthew D F; Hamstra, Stan J; Doherty, Geoffrey; Gupta, Ashish; Peddle, Susan; Jibri, Zaid; Rakhra, Kawan; Hibbert, Rebecca M

    2017-04-01

    The purpose of this study is to develop a tool to assess the procedural competence of radiology trainees, with sources of evidence gathered from five categories to support the construct validity of tool: content, response process, internal structure, relations to other variables, and consequences. A pilot form for assessing procedural competence among radiology residents, known as the RAD-Score tool, was developed by evaluating published literature and using a modified Delphi procedure involving a group of local content experts. The pilot version of the tool was tested by seven radiology department faculty members who evaluated procedures performed by 25 residents at one institution between October 2014 and June 2015. Residents were evaluated while performing multiple procedures in both clinical and simulation settings. The main outcome measure was the percentage of residents who were considered ready to perform procedures independently, with testing conducted to determine differences between levels of training. A total of 105 forms (for 52 procedures performed in a clinical setting and 53 procedures performed in a simulation setting) were collected for a variety of procedures (eight vascular or interventional, 42 body, 12 musculoskeletal, 23 chest, and 20 breast procedures). A statistically significant difference was noted in the percentage of trainees who were rated as being ready to perform a procedure independently (in postgraduate year [PGY] 2, 12% of residents; in PGY3, 61%; in PGY4, 85%; and in PGY5, 88%; p radiology trainees with high levels of construct validity in multiple domains. Implementation of the tool in the radiology residency curriculum is planned and can play an instrumental role in the transition to competency-based radiology training.

  11. Lymphocyte and monocyte flow cytometry immunophenotyping as a diagnostic tool in uncharacteristic inflammatory disorders

    Directory of Open Access Journals (Sweden)

    Grip Olof

    2010-07-01

    Full Text Available Abstract Background Patients with uncharacteristic inflammatory symptoms such as long-standing fatigue or pain, or a prolonged fever, constitute a diagnostic and therapeutic challenge. The aim of the present study was to determine if an extended immunophenotyping of lymphocytes and monocytes including activation markers can define disease-specific patterns, and thus provide valuable diagnostic information for these patients. Methods Whole blood from patients with gram-negative bacteraemia, neuroborreliosis, tuberculosis, acute mononucleosis, influenza or a mixed connective tissue disorders, as diagnosed by routine culture and serology techniques was analysed for lymphocyte and monocyte cell surface markers using a no-wash, no-lyse protocol for multi-colour flow cytometry method. The immunophenotyping included the activation markers HLA-DR and CD40. Plasma levels of soluble TNF alpha receptors were analysed by ELISA. Results An informative pattern was obtained by combining two of the analysed parameters: (i, the fractions of HLA-DR-expressing CD4+ T cells and CD8+ T cells, respectively, and (ii, the level of CD40 on CD14+ CD16- monocytes. Patients infected with gram-negative bacteria or EBV showed a marked increase in monocyte CD40, while this effect was less pronounced for tuberculosis, borrelia and influenza. The bacterial agents could be distinguished from the viral agents by the T cell result; CD4+ T cells reacting in bacterial infection, and the CD8+ T cells dominating for the viruses. Patients with mixed connective tissue disorders also showed increased activation, but with similar engagement of CD4+ and CD8+ T cells. Analysis of soluble TNF alpha receptors was less informative due to a large inter-individual variation. Conclusion Immunophenotyping including the combination of the fractions of HLA-DR expressing T cell subpopulations with the level of CD40 on monocytes produces an informative pattern, differentiating between infections of

  12. Application and evaluation of invasive prenatal diagnostic techniques and analysis of chromosomal karyotype%两种侵入性产前诊断技术的评估及染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    王丽琼; 王新; 张绍菱; 周仲民; 朱付凡; 丁依玲

    2013-01-01

    目的:系统评估现有的侵入性产前诊断技术的安全性、有效性及其手术并发症的发生率,并对产前诊断指征及各种异常核型的临床意义进行探讨.方法:回顾性总结分析2005年3月至2012年5月中南大学湘雅二医院产前诊断中心所进行的羊膜腔穿刺、脐静脉穿刺的病例并分析其手术指征、成功率、安全性和并发症等情况;对25例异常染色体核型进行分析.结果:2005年3月至2012年5月共对669例孕妇进行了侵入性产前诊断,其中羊膜腔穿刺组598例,脐静脉穿刺组71例,与脐静脉穿刺组比较,羊膜腔穿刺组有更高的穿刺成功率(91.54% vs 100%,P<0.05),更低的流产率(1.41% vs 0.33%,P<0.05)、异常染色体发现率(11.27% vs 2.84%,P<0.05)及医疗费用(880元vs800元,P<0.05).羊膜腔穿刺术及脐静脉穿刺的产前诊断指征前3位均为唐筛高风险、高龄孕妇、超声检查异常.侵入性产前诊断共发现异常染色体25例,其中21-三体6例,性染色体数目异常4例,常染色体平衡易位7例,标记染色体1例,嵌合体7例.结论:羊膜腔穿刺作为成熟的产前诊断取材技术其临床应用是安全有效的;脐静脉穿刺的手术并发症发生率远高于羊膜腔穿刺不应作为染色体异常产前诊断的常规手段.染色体核型分析不仅能及时发现胎儿染色体异常,而且能为孕妇是否继续妊娠提供科学依据,有利于降低出生缺陷的发生率.%Objective:To evaluate the safety,effectiveness and complications of serial invasive prenatal diagnostic techniques,and to investigate the prenatal diagnosis indication as well as to analyze the abnormal chromosomal karyotype.Methods:We retrospectively studied all patients from March 2005 to May 2012 who received amniocentesis and cordocentesis in the prenatal diagnosis center of Second Xiangya Hospital.The indication of the procedure,successful rate and complications were evaluated,and 25 abnormal

  13. Database with web interface and search engine as a diagnostics tool for electromagnetic calorimeter

    CERN Document Server

    Paluoja, Priit

    2017-01-01

    During 2016 data collection, the Compact Muon Solenoid Data Acquisition (CMS DAQ) system has shown a very good reliability. Nevertheless, the high complexity of the hardware and the software involved is, by its nature, prone to some occasional problems. As CMS subdetector, electromagnetic calorimeter (ECAL) is affected in the same way. Some of the issues are not predictable and can appear during the year more than once such as components getting noisy, power shortcuts or failing communication between machines. The chain detection-diagnosis-intervention must be as fast as possible to minimise the downtime of the detector. The aim of this project was to create a diagnostic software for ECAL crew, which consists of database and its web interface that allows to search, add and edit the contents of the database.

  14. Serum fucosyl transferase activity and serum fucose levels as diagnostic tools in malignancy.

    Directory of Open Access Journals (Sweden)

    Sen,Umi

    1983-12-01

    Full Text Available Glycoproteins play a significant role in neoplastic transformations. Both the levels of fucose and the activity of fucosyl transferase, which mediates the assembly of the oligosaccharide moieties of the glycoprotein chains, have been found to be elevated in neoplastic conditions. Since these elevations are common features of a variety of neoplastic cells, these two have been designated as non-specific markers of malignancy. In the present study, the fucose level and fucosyl transferase activity were determined in the sera of cancer patients and an attempt was made to establish a relationship between the two. It was found that both the fucose levels and fucosyl transferase activities showed considerable elevation in the five cancer groups studied, establishing them as useful diagnostic parameters. However, it was also observed that the rate of increased fucosyl transferase activity was not fully reflected in the resulting serum fucose levels in a few cases.

  15. A diagnostic and prognostic tool for epidemiologic and economic analyses of dairy herd health management

    DEFF Research Database (Denmark)

    Enevoldsen, Carsten; Sørensen, J.T.; Thysen, Iver;

    1995-01-01

    A computer program framework was established to enable a dairy herd production consultant to perform whole-herd analysis. The diagnostic process was an extensive data analysis 1) to derive key parameters related to production, reproduction, and health and 2) to produce input to a prognostic process....... The prognostic process synthesized the obtained information into short- or long-term prognoses for the herd through a complex herd simulation model. Site specificity of parameter estimation and forecasting and explorability of assumptions and results were major characteristics of the approach. A user acceptance...... problem related to the simulation was addressed through a simultaneous process of development and validation during the introduction of the program framework into veterinary practices. The generally slow adoption of herd simulation models in extension work could be due to lack of credibility of the models...

  16. The Biplot as a diagnostic tool of local dependence in latent class models. A medical application.

    Science.gov (United States)

    Sepúlveda, R; Vicente-Villardón, J L; Galindo, M P

    2008-05-20

    Latent class models (LCMs) can be used to assess diagnostic test performance when no reference test (a gold standard) is available, considering two latent classes representing disease or non-disease status. One of the basic assumptions in such models is that of local or conditional independence: all indicator variables (tests) are statistically independent within each latent class. However, in practice this assumption is often violated; hence, the two-LCM fits the data poorly. In this paper, we propose the use of Biplot methods to identify the conditional dependence between pairs of manifest variables within each latent class. Additionally, we propose incorporating such dependence in the corresponding latent class using the log-linear formulation of the model.

  17. A diagnostic and prognostic tool for epidemiologic and economic analyses of dairy herd health management

    DEFF Research Database (Denmark)

    Enevoldsen, Carsten; Sørensen, J.T.; Thysen, Iver

    1995-01-01

    A computer program framework was established to enable a dairy herd production consultant to perform whole-herd analysis. The diagnostic process was an extensive data analysis 1) to derive key parameters related to production, reproduction, and health and 2) to produce input to a prognostic process....... The prognostic process synthesized the obtained information into short- or long-term prognoses for the herd through a complex herd simulation model. Site specificity of parameter estimation and forecasting and explorability of assumptions and results were major characteristics of the approach. A user acceptance...... problem related to the simulation was addressed through a simultaneous process of development and validation during the introduction of the program framework into veterinary practices. The generally slow adoption of herd simulation models in extension work could be due to lack of credibility of the models...

  18. 2068例胎儿染色体产前诊断结果分析%Analysis on prenatal diagnostic results of chromosome karyotypes in 2 068 fetuses

    Institute of Scientific and Technical Information of China (English)

    王岳平; 姜卫华; 郝明革; 任彦; 李诗强; 齐漫龙

    2009-01-01

    To explore the incidence of chromosomal diseases in fetuses by analyzing chromosome karyotypes on the high risk population of chromosomal diseases. Methods: 2 068 pregnant women with high risk of chromosomal diseases in their fetuses un-derwent amniocentesis or percutaneous umbilical blood sampling from September 2003 to September 2008, then karyotypes of their fetuses were analysed. Results: 68 fetuses were found chromosome abnormalities, the rate was 3.29%, including 44 fetuses of numerical abnor-mality and 19 fetuses of structural abnormality. Conclusion: Chromosomal karyotypos analysis on high risk population in the mid trimester of pregnancy is an important prenatal diagnosis method. Serum screening, B ultrasound screening and advanced maternal age are important measures to find fetus with chromosomal diseases.%目的:通过对妊娠中期染色体病高危胎儿进行染色体核型分析,对染色体病所致的畸形儿进行产前诊断,探讨胎儿染色体病的发生情况.方法:对2003年9月~2008年9月中国医科大学附属盛京医院2 068例染色体病高危孕妇进行羊膜腔穿刺或胎儿脐静脉穿刺,采取细胞培养,制备中期染色体,分析胎儿核型,进行产前诊断.结果:在2 068例胎儿染色体核型中,发现染色体异常68例,异常率为3.29%,其中数目异常41例,结构异常27例.结论:妊娠中期对染色体病高危胎儿进行羊水或脐血染色体核型分析是产前诊断的重要方法,孕母血清筛查、B超检查并结合孕妇高龄等是发现染色体病胎儿的重要措施.

  19. Anatomic pathology of hepatocellular carcinoma: histopathology using classic and new diagnostic tools.

    Science.gov (United States)

    Pittman, Meredith E; Brunt, Elizabeth M

    2015-05-01

    Hepatocellular carcinoma can be diagnosed on a needle biopsy of the liver; however, uncertainty may arise because of the inherent complexity of liver histology. This article aims to provide practicing pathologists with tools for the approach to mass-directed liver biopsies clinically concerning for hepatocellular carcinoma. The examination of routine hematoxylin-eosin stains and the use of ancillary histochemical and immunohistochemical stains are discussed. Sections reviewing liver carcinoma with biphenotypic differentiation and the challenge of dysplastic nodules are included.

  20. The use of different diagnostic tools for Babesia and Theileria parasites in cattle in Menofia, Egypt.

    Science.gov (United States)

    Nayel, Mohamed; El-Dakhly, Khaled Mohamed; Aboulaila, Mahmoud; Elsify, Ahmed; Hassan, Hany; Ibrahim, Elsayed; Salama, Akram; Yanai, Tokuma

    2012-09-01

    Bovine piroplasmosis is caused by tick-borne hemoprotozoans of the genera Babesia and Theileria and is the most prevalent in tropical and subtropical countries, causing a major economic impact worldwide. In the current study, a total of 405 cattle of different ages, sexes, and breeds were randomly sampled for surveying and diagnosis of babesiosis and theileriosis using three methods: direct microscopy (blood smears), indirect fluorescent antibody test (IFAT) and polymerase chain reaction (PCR). Giemsa-stained blood smears revealed that, out of 405 examined cattle, 33 (8.15 %) were infected with Babesia sp. and 65 (16.05 %) with Theileria sp. (total number of infected cattle was 98). Mixed infection was seen in 11 (2.72 %) animals. Moreover, application of the three diagnostic assays on 158 randomly sampled cattle indicated that 17 (10.76 %) and 33 (20.89 %) were positive for Babesia and Theileria spp. by the direct smear technique, 25 (15.82 %) and 33 (20.89 %) by IFAT (fluorescence was greenish yellow for Babesia and yellowish for Theileria), and 20 (12.66 %) and 38 (24.05 %) by PCR. Using primers specific for Babesia and Theileria spp., we found that diagnostic bands appeared at ~350 and ~370 bp, respectively indicating the presence of these piroplasms. Statistically, there was a non-significant difference of the positivity in response to the three techniques; thus, any of these methods can be described as useful for diagnosing blood parasites in both domesticated animals and birds. On the basis of the obtained results, it could be concluded that direct microscopy can be used in acute infections, whereas IFAT and PCR are useful in chronicity.

  1. Hemoglobin A1c May Be an Inadequate Diagnostic Tool for Diabetes Mellitus in Anemic Subjects

    Directory of Open Access Journals (Sweden)

    Jung Il Son

    2013-10-01

    Full Text Available BackgroundRecently, a hemoglobin A1c (HbA1c level of 6.5% has been determined to be a criterion for diabetes mellitus (DM, and it is a widely used marker for the diagnosis of DM. However, HbA1c may be influenced by a number of factors. Anemia is one of the most prevalent diseases with an influence on HbA1c; however, its effect on HbA1c varies based on the variable pathophysiology of anemia. The aim of this study was to determine the effect of anemia on HbA1c levels.MethodsAnemic subjects (n=112 and age- and sex-matched controls (n=217 who were drug naive and suspected of having DM were enrolled. The subjects underwent an oral glucose tolerance test and HbA1c simultaneously. We compared mean HbA1c and its sensitivity and specificity for diagnosing DM between each subgroup.ResultsClinical characteristics were found to be similar between each subgroup. Also, when glucose levels were within the normal range, the difference in mean HbA1c was not significant (P=0.580. However, when plasma glucose levels were above the diagnostic cutoff for prediabetes and DM, the mean HbA1c of the anemic subgroup was modestly higher than in the nonanemic group. The specificity of HbA1c for diagnosis of DM was significantly lower in the anemic subgroup (P<0.05.ConclusionThese results suggest that the diagnostic significance of HbA1c might be limited in anemic patients.

  2. Tandem repeat markers as novel diagnostic tools for high resolution fingerprinting of Wolbachia

    Directory of Open Access Journals (Sweden)

    Riegler Markus

    2012-01-01

    Full Text Available Abstract Background Strains of the endosymbiotic bacterium Wolbachia pipientis are extremely diverse both genotypically and in terms of their induced phenotypes in invertebrate hosts. Despite extensive molecular characterisation of Wolbachia diversity, little is known about the actual genomic diversity within or between closely related strains that group tightly on the basis of existing gene marker systems, including Multiple Locus Sequence Typing (MLST. There is an urgent need for higher resolution fingerprinting markers of Wolbachia for studies of population genetics, horizontal transmission and experimental evolution. Results The genome of the wMel Wolbachia strain that infects Drosophila melanogaster contains inter- and intragenic tandem repeats that may evolve through expansion or contraction. We identified hypervariable regions in wMel, including intergenic Variable Number Tandem Repeats (VNTRs, and genes encoding ankyrin (ANK repeat domains. We amplified these markers from 14 related Wolbachia strains belonging to supergroup A and were successful in differentiating size polymorphic alleles. Because of their tandemly repeated structure and length polymorphism, the markers can be used in a PCR-diagnostic multilocus typing approach, analogous to the Multiple Locus VNTR Analysis (MLVA established for many other bacteria and organisms. The isolated markers are highly specific for supergroup A and not informative for other supergroups. However, in silico analysis of completed genomes from other supergroups revealed the presence of tandem repeats that are variable and could therefore be useful for typing target strains. Conclusions Wolbachia genomes contain inter- and intragenic tandem repeats that evolve through expansion or contraction. A selection of polymorphic tandem repeats is a novel and useful PCR diagnostic extension to the existing MLST typing system of Wolbachia, as it allows rapid and inexpensive high-throughput fingerprinting of

  3. Later Prenatal Checkups

    Science.gov (United States)

    ... report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ... Last reviewed: May, 2011 Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ...

  4. Prenatal Care Checkup

    Science.gov (United States)

    ... report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ... Careers Archives Health Topics Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ...

  5. Prenatal ultrasound - slideshow

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/presentations/100197.htm Prenatal ultrasound - series—Procedure, part 1 To use the sharing ... Editorial team. Related MedlinePlus Health Topics Prenatal Testing Ultrasound A.D.A.M., Inc. is accredited by ...

  6. Prenatal screening methods for aneuploidies

    Directory of Open Access Journals (Sweden)

    Madhusudan Dey

    2013-01-01

    Full Text Available Aneuploidies are a major cause of perinatal morbidity and mortality. Therefore, it is the most common indication for invasive prenatal diagnosis. Initially, screening for aneuploidies started with maternal age risk estimation. Later on, serum testing for biochemical markers and ultrasound markers were added. Women detected to be at high-risk for aneuploidies were offered invasive testing. New research is now focusing on non-invasive prenatal testing using cell-free fetal DNA in maternal circulation. The advantage of this technique is the ability to reduce the risk of miscarriage associated with invasive diagnostic procedures. However, this new technique has its own set of technical limitations and ethical issues at present and careful consideration is required before broad implementation

  7. Oral fluid nanosensor test: saliva as a diagnostic tool for oral health.

    Science.gov (United States)

    Pujari, Mallayya; Bahirwani, Shraddha; Balaji, P; Kaul, Rachna; Shah, Bina; Daryani, Deepak; Iqbal, Sidra

    2012-09-01

    High-impact diseases, especially cancer, are challenging to diagnose without supplementing laboratory testing. Even with laboratory tools, definitive diagnosis often remains elusive. The oral fluid nanosensor test technology platform combines cutting-edge technologies--such as self-assembled monolayers, bionanotechnology, cyclic enzymatic amplification, and microfluidics--with several well-established techniques including microinjection molding, hybridization-based detection, and molecular purification. The intended use of the OFNASET is for the point-of-care multiplex detection of salivary biomarkers for oral cancer.

  8. [Early lung disease in infants with cystic fibrosis. Diagnostic tools and possible therapeutic pathways].

    Science.gov (United States)

    Reix, P; Matecki, S; Fayon, M

    2016-02-01

    The lungs of infants with cystic fibrosis (CF) have been considered to be normal at birth. However, recent data indicates that this is unlikely to be true in most cases. Animal CF-models developed in the early 2000s have shown that constitutional airway narrowing may be present at birth, and is associated with both functional and structural abnormalities. Longitudinal birth cohort studies have shown that 25 % of CF infants followed in specialized centers, while being asymptomatic, showed decreased lung function at 3months of age. Air trapping was present in 68 % and bronchiectasis in 28 % of patients at the same age. The presence of neutrophil elastase in the bronchoalveolar lavage at 3months of age tripled the risk of bronchiectasis at the age of 3years. Currently available tools such as infant pulmonary function tests (both the jacket and multiple breath washout) as well as high-resolution volume controlled chest-computed tomography or functional magnetic resonance imaging will facilitate early intervention trials in the very near future. The role of such tools for the routine follow-up of patients, and the ability of early therapeutic interventions to alter the natural history of CF-lung disease should soon be established. Copyright © 2015 SPLF. Published by Elsevier Masson SAS. All rights reserved.

  9. Diagnostic tools for preventing and managing maternal and congenital syphilis: an overview.

    Science.gov (United States)

    Peeling, Rosanna W.; Ye, Htun

    2004-01-01

    Syphilis is a major cause of adverse outcomes in pregnancy in developing countries. Fetal death and morbidity due to congenital syphilis are preventable if infected mothers are identified and treated appropriately by the middle of the second trimester. Most pregnant women with syphilis are asymptomatic and can only be identified through serological screening. Non-treponemal tests, such as the rapid plasma reagin (RPR) test, are sensitive, simple to perform, and inexpensive. However, they have often not been available at primary health-care settings because they required cold storage for reagents and electricity to operate a rotator. Additionally, as many as 28% of positive RPR results in pregnant women are biological false positives. Confirmatory assays are usually available only in reference laboratories. Technological advances have resulted in improved serodiagnostic tools for syphilis. New enzyme immunoassays are available for surveillance and for large-scale screening programmes. Decentralized antenatal screening with on-site confirmation is now possible since new RPR reagents that are stable at room temperature have become commercially available, as have solar-powered rotators and simple, rapid point-of-care treponemal tests that use whole blood and do not require electricity or equipment. These will be valuable tools for preventing or eliminating congenital syphilis. The development of a non-invasive rapid treponemal test that distinguishes between active and past infections remains a high priority in areas where syphilis is endemic. PMID:15356937

  10. TRACEing the roots: a diagnostic "Tool for Retrospective Analysis of Critical Events".

    Science.gov (United States)

    Hannawa, Annegret F; Roter, Debra L

    2013-11-01

    The lack of interdisciplinary clarity in the conceptualization of medical errors discourages effective incident analysis, particularly in the event of harmless outcomes. This manuscript integrates communication competence theory, the criterion of reasonability, and a typology of human error into a theoretically grounded Tool for Retrospective Analysis of Critical Events (TRACE) to overcome this limitation. A conceptual matrix synthesizing foundational elements pertinent to critical incident analysis from the medical, legal, bioethical and communication literature was developed. Vetting of the TRACE through focus groups and interviews was conducted to assure utility. The interviews revealed that TRACE may be useful in clinical settings, contributing uniquely to the current literature by framing critical incidents in regard to theory and the primary clinical contexts within which errors may occur. TRACE facilitates a comprehensive, theoretically grounded analysis of clinical performance, and identifies the intrapersonal and interpersonal factors that contribute to critical events. The TRACE may be used as (1) the means for a comprehensive, detailed analysis of human performance across five clinical practice contexts, (2) an objective "fact-check" after a critical event, (3) a heuristic tool to prevent critical incidents, and (4) a data-keeping system for quality improvement. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  11. Digital capillaroscopy as important tool for early diagnostics of arterial hypertension

    Science.gov (United States)

    Gurfinkel, Yu. I.; Sasonko, M. L.; Priezzhev, A. V.

    2015-03-01

    The study is aimed to determine the digital capillaroscopy possibilities in early diagnostics of an arterial hypertension. A total of 123 adult persons were examined in the study. The first group consisted of 40 patients with prehypertension (BP 130-139/85-89 mm Hg). The second group included 36 patients with 1-2 stage of hypertension (mean systolic BP 152.7±12 mm Hg). Patients in both groups did not receive regular drug therapy. The group of volunteers (n=47) included healthy adults without signs of cardiovascular pathology. The capillary circulation was examined on the nailbed using the optical digital capillaroscope developed by the company "AET", Russia. Diameters of the arterial and venous segments, perivascular zone size, capillary blood velocity, the degree of arterial loops narrowing and the density of the capillary network were estimated. In patients with arterial hypertension and even in patients with prehypertension remodeling and rarefaction of capillaries and the expressed narrowing their arterial loops were manifested. The results of the study revealed the presence of abnormalities of microcirculation parameters in patients of both groups. The capillaries density in both groups of patients was significantly lower than in healthy persons. The significant narrowing of arterial loops was revealed in patients with both arterial hypertension and prehypertension, in comparison with healthy volunteers. Capillary blood velocity did not differ significantly between healthy volunteers group and the group of prehypertensive patients. However in patients with hypertension this parameter was significantly lower in comparison with control group.

  12. Comparison of New Diagnostic Tools for Management of Pediatric Mediterranean Visceral Leishmaniasis

    Science.gov (United States)

    Cruz, Israel; Chicharro, Carmen; Nieto, Javier; Bailo, Begoña; Cañavate, Carmen; Figueras, María-Concepción; Alvar, Jorge

    2006-01-01

    New techniques are available for diagnosing leishmaniasis, but their efficacy in the identification of pediatric visceral leishmaniasis (VL) has not been compared with that of traditional methods. Blood, bone marrow, and urine samples were taken from 25 children with VL during their first clinical episode, 22 days after the start of treatment with liposomal amphotericin B (3 mg/kg/day on 6 days over a 10-day period), and when a relapse was suspected during follow-up. The results obtained suggest that antibody detection techniques, the antigen detection in urine (KAtex kit), and Leishmania nested PCR (LnPCR) analysis of the blood could be used for diagnosis of the first clinical episode. After treatment, clinical improvement was associated with negativization of Novy-MacNeal-Nicolle culture and microscopy of bone marrow aspirate, KAtex test, and LnPCR blood analysis results. Interestingly, LnPCR analysis of the bone marrow aspirate showed that sterile cure was not achieved in eight patients, two of which suffered a relapse within 10 to 20 weeks. All of the new noninvasive techniques tested showed high diagnostic sensitivity. However, LnPCR analysis of the bone marrow was the most sensitive; this test was able to detect the persistence of parasites and predict potential relapses. PMID:16825347

  13. Laparoscopy:As a First Line Diagnostic Tool for Infertility Evaluation

    Science.gov (United States)

    Khatuja, Ritu; Juneja, Atul; Mehta, Sumita

    2014-01-01

    Introduction: The role of diagnostic and therapeutic hystero-laparoscopy in women with infertility is well established. It is helpful not only in the identification of the cause but also in the management of the same at that time. Materials and Methods: In this study, the aim was to analyse the results of 203 women on whom laparoscopy for the evaluation of infertility was done. This study was carried out at a tertiary level hospital from 2005 to 2012. The study group included 121 women with primary infertility and 82 women with secondary infertility. Women with incomplete medical records and isolated male factor infertility were excluded from the study. Results: It was observed that tubal disease was the responsible factor in 62.8% women with primary infertility and 54.8% women with secondary infertility followed by pelvic adhesions in 33% and 31.5%, ovarian factor in 14% and 8.5%, pelvic endometriosis in 9.9% and 6.1% women respectively. Thus tubal factor infertility is still a major cause of infertility in developing countries and its management at an early stage is important to prevent an irreversible damage. At the same time, it also directs which couples would be benefited from assisted reproductive technologies (ART). PMID:25478408

  14. Point-of-care Diagnostic Tools to Detect Circulating MicroRNAS as Biomarkers of Disease

    Directory of Open Access Journals (Sweden)

    Luis Vaca

    2014-05-01

    Full Text Available MicroRNAs or miRNAs are a form of small non-coding RNAs (ncRNAs of 19–22 nucleotides in length in their mature form. miRNAs are transcribed in the nucleus of all cells from large precursors, many of which have several kilobases in length. Originally identified as intracellular modulators of protein synthesis via posttranscriptional gene silencing, more recently it has been found that miRNAs can travel in extracellular human fluids inside specialized vesicles known as exosomes. We will be referring to this miRNAs as circulating microRNAs. More interestingly, the miRNA content inside exosomes changes during pathological events. In the present review we analyze the literature about circulating miRNAs and their possible use as biomarkers. Furthermore, we explore their future in point-of-care (POC diagnostics and provide an example of a portable POC apparatus useful in the detection of circulating miRNAs.

  15. The Electrochemical Impedance Spectroscopy as a Diagnostic Tool of the Transformer Oil

    Directory of Open Access Journals (Sweden)

    Alexander Cueli Corugedo

    2014-11-01

    Full Text Available The quality of the transformer oil is essential to ensure its right performance in electrical appliances such as transformers and switches, in which oil works as insulating. The necessity toguarantee such condition can be affected due to the law level of pollution, refining, and humidity among others, reason why a systematic evaluation of the oil´s condition must be carried out to avoid the expensive failures in the power´s transmission and distribution. This work deals with the usage of the Electrochemical Impedance Spectroscopy for the first time as a diagnostic of the national new regenerated oils, which helps showing its resistive behavior to corrosive processes and so the preservation of its electrical properties. An electrochemical glass cell with three electrodes is used in this work in order to control the test temperature to a specific determined range (75° C y 95° C. Electrolytic copper was used as work electrode, taking as reference and auxiliary the ones specified for this purpose. The impedance spectrums obtained, confirmed the dielectric properties of the oil tested. With the increase of the temperature, the resistive effect of the oil decreases.

  16. Palmar dermatoglyphics as diagnostic tool: Mayer-rokintansky-kuster-hauser syndrome

    Directory of Open Access Journals (Sweden)

    Kumar A

    2003-03-01

    Full Text Available The congential anomalies involving Mullerian duct dysgenesis, the MRKH (Mayer-Rokitansky-Kuster-Hauser syndrome overlaps a ′community of syndromes′ which share, apart from a complete absence of uterus and vagina, associated presentations that include developmental abnormalities of skeletal, renal, dental and other dysmorphias. First described more than 400 years ago, this complement of anomalies now rechristened, the MRKH syndrome has been extensively studied. Found to occur once in every 4000 females; estimated on its incidence vary from 1/5000 to 1/20,000. Despite its fairly wide prevalence, this syndrome has remained largely underdiagnosed or cryptic. Social and cultural perceptions have perforce driven, the wide existence of the very personal handicap underground and unacceptable. Accidentally discovered during routine examination, during secondarily associated medical problems, the mullerian agenecies syndrome has been subject of a wide range of clinical and laboratory investigations. The oddity in the syndrome is that the patient appears absolutely normal and that it presents with no genetic marker. We herein report the palmar dermatoglyphic and doctylographic features of a patient with MRKH syndrome. However interpretation, show conclusively, at least in this single case that the MRKH syndrome can be diagnosed through its characteristic dermatography patterns. In our view, routine dermatographic study of all live females births may lead to not only an early but also a cost effective diagnostic method.

  17. Raman spectroscopy: a diagnostic tool for detection of early malignant changes in the larynx

    Science.gov (United States)

    Stone, Nicholas; Stavroulaki, Pelagia; Kendall, Catherine A.; Birchall, Martin; Barr, Hugh

    2000-05-01

    The incidence of laryngeal cancer has risen progressively over the last 25 years. Early diagnosis and treatment of premalignant lesions of the larynx is vital to prevent progression to invasive squamous cell carcinoma. In the larynx, it has long been recognized that histological evidence of maturation abnormality is associated with a higher risk of transformation to malignancy. Currently, it is extremely difficult if not impossible for the clinician to ascertain the level of abnormality present without removing a biopsy sample and sending it for histopathological analysis. Inherent risks with this technique include damage to vocal chords and loss of speech quality as well as possible selection of unrepresentative biopsy samples. Raman spectroscopy, incorporated into an endoscopic system, has the potential to provide a real-time, non-invasive diagnostic technique able to detect biochemical changes that accompany abnormal pathology. Likely outcomes would be improved biopsy targeting and patient management by providing immediate result of tissue pathology. This paper demonstrates the capacity of near IR Raman spectroscopy combine with statistical data analysis techniques to discriminate between normal, dysplastic and cancerous laryngeal tissue.

  18. High-Content Movement Analysis as a Diagnostic Tool in C. elegans

    Science.gov (United States)

    Winter, Peter; Lancichinetti, Andrea; Krevitt, Leah; Amaral, Luis; Morimoto, Rick

    2013-03-01

    Many neurodegenerative diseases manifest themselves through a loss of motor control and give us information about the underlying disease. This loss of coordination is observed in humans and in the model organisms used to study neurodegeneration. In Caenorhabditis elegans, there is an extensive genetic library of strains that lack functional neuronal signaling pathways and expressing proteins associated with neurodegenerative diseases. While most of these strains have decrease motility or cause paralysis, relatively few have been screened to look for more subtle changes in motor control such as stiffness, twitching, or other changes in behavior. we use high-resolution position and posture data to automatically analyze the movement of worms from different genetic backgrounds and characterize 14 movement characteristics. By creating a quantitative mapping between the movement characterization and an online database of gene annotation, gene expression, and anatomy, we aim to predict a likely set of cellular and molecular disruptions. This work provides a proof of concept for the use of detailed movement analysis to uncover novel disruptions in certain motor control processes. Knowledge of the molecular origin of these disruptions provided by our understanding of C. elegans genetics and physiology could lead to new diagnostic and therapeutic targets for neurodegenerative disease.

  19. Taeniasis-cysticercosis in Southern Ecuador: assessment of infection status using multiple laboratory diagnostic tools

    Directory of Open Access Journals (Sweden)

    R Rodriguez-Hidalgo

    2006-11-01

    Full Text Available Taenia solium-taeniasis and cysticercosis were studied in the human and porcine populations of a rural community in the Southern Ecuadorian Andes. From the 1059 inhabitants, 800 serum samples and 958 stool samples could be collected. In addition, 646 from the estimated 1148 pigs were tongue inspected. Circulating antigen was detected by enzyme linked immunosorbent assay (Ag-ELISA in 2.25% of the human population, whereas intestinal taeniasis was detected in 1.46% by the formalin-ether technique. Following treatment and recovery of tapeworm fragments these were all identified as T. solium. Porcine cysticercosis was diagnosed in 3.56% of the pigs by tongue inspection. In addition, enzyme linked immunoelectrotransfer blot (EITB was performed on a subset group of 100 humans to confirm the results of the Ag-ELISA. One hundred serum samples from pigs were also analysed by EITB. It appeared that 43 and 74% of humans and pigs had antibodies against T. solium cysticerci, respectively. It is concluded that contrary to the high exposure of the human population to T. solium that is suggested by EITB, the number of active cysticercosis cases, diagnosed by Ag-ELISA, was low, which may indicate endemic stability. The further use of complementary diagnostic methods for a better understanding of the epidemiology of T. solium is suggested.

  20. Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities.

    Science.gov (United States)

    Gouas, L; Goumy, C; Véronèse, L; Tchirkov, A; Vago, P

    2008-09-01

    Cytogenetics is the part of genetics that deals with chromosomes, particularly with numerical and structural chromosome abnormalities, and their implications in congenital or acquired genetic disorders. Standard karyotyping, successfully used for the last 50 years in investigating the chromosome etiology in patients with infertility, fetal abnormalities and congenital disorders, is constrained by the limits of microscopic resolution and is not suited for the detection of subtle chromosome abnormalities. The ability to detect submicroscopic chromosomal rearrangements that lead to copy-number changes has escalated progressively in recent years with the advent of molecular cytogenetic techniques. Here, we review various gene dosage methods such as FISH, PCR-based approaches (MLPA, QF-PCR, QMPSF and real time PCR), CGH and array-CGH, that can be used for the identification and delineation of copy-number changes for diagnostic purposes. Besides comparing their relative strength and weakness, we will discuss the impact that these detection methods have on our understanding of copy number variations in the human genome and their implications in genetic counseling.

  1. The challenge of Clostridium difficile infection: Overview of clinical manifestations, diagnostic tools and therapeutic options.

    Science.gov (United States)

    Postma, Nynke; Kiers, Dorien; Pickkers, Peter

    2015-12-01

    The most important infectious cause of antibiotic-associated diarrhoea and colitis is Clostridium difficile, which is a Gram-positive, anaerobic, spore-forming, toxin-producing bacillus. In this overview we will discuss the diagnostic and therapeutic management of patients presenting with suspected or proven C. difficile infection (CDI). The clinical spectrum varies from asymptomatic C. difficile carriers to fulminant colitis with multi-organ failure. The onset of symptoms is usually within 2 weeks after initiation of antibiotic treatment. Diagnosis is based on the combination of clinical symptoms and either a positive stool test for C. difficile toxins or endoscopic or histological findings of pseudomembranous colitis. There is no indication for treatment of asymptomatic carriers, but patients with proven CDI should be treated. Treatment consists of cessation of the provoking antibiotic treatment, secondary prevention by infection control strategies, and treatment with metronidazole or vancomycin. Treatment of recurring CDI, severe infection, the need for surgery, and novel alternative potential treatment strategies will be discussed. The concurrent increase in multiresistant colonisation and increasing numbers of asymptomatic carriers of C. difficile will lead to an increase of the situation in which patients with severe infections, treated with broad-spectrum antibiotics, will develop concurrent severe CDI. We will discuss possible therapy strategies for these patients.

  2. Innovating lifetime microscopy: a compact and simple tool for life sciences, screening, and diagnostics.

    Science.gov (United States)

    Esposito, Alessandro; Gerritsen, Hans C; Oggier, Thierry; Lustenberger, Felix; Wouters, Fred S

    2006-01-01

    Fluorescence lifetime imaging microscopy (FLIM) allows the investigation of the physicochemical environment of fluorochromes and protein-protein interaction mapping by Forster resonance energy transfer (FRET) in living cells. However, simpler and cheaper solutions are required before this powerful analytical technique finds a broader application in the life sciences. Wide-field frequency-domain FLIM represents a solution whose application is currently limited by the need for multichannel-plate image intensifiers. We recently showed the feasibility of using a charge-coupled device/complementory metal-oxide semiconductor (CCD/CMOS) hybrid lock-in imager, originally developed for 3-D vision, as an add-on device for lifetime measurements on existing wide-field microscopes. In the present work, the performance of the setup is validated by comparison with well-established wide-field frequency-domain FLIM measurements. Furthermore, we combine the lock-in imager with solid-state light sources. This results in a simple, inexpensive, and compact FLIM system, operating at a video rate and capable of single-shot acquisition by virtue of the unique parallel retrieval of two phase-dependent images. This novel FLIM setup is used for cellular and FRET imaging, and for high-throughput and fast imaging applications. The all-solid-state design bridges the technological gap that limits the use of FLIM in areas such as drug discovery and medical diagnostics.

  3. Taeniasis-cysticercosis in Southern Ecuador: assessment of infection status using multiple laboratory diagnostic tools.

    Science.gov (United States)

    Rodriguez-Hidalgo, R; Benitez-Ortiz, W; Praet, N; Saa, L R; Vercruysse, J; Brandt, J; Dorny, P

    2006-11-01

    Taenia solium-taeniasis and cysticercosis were studied in the human and porcine populations of a rural community in the Southern Ecuadorian Andes. From the 1059 inhabitants, 800 serum samples and 958 stool samples could be collected. In addition, 646 from the estimated 1148 pigs were tongue inspected. Circulating antigen was detected by enzyme linked immunosorbent assay (Ag-ELISA) in 2.25% of the human population, whereas intestinal taeniasis was detected in 1.46% by the formalin-ether technique. Following treatment and recovery of tapeworm fragments these were all identified as T. solium. Porcine cysticercosis was diagnosed in 3.56% of the pigs by tongue inspection. In addition, enzyme linked immunoelectrotransfer blot (EITB) was performed on a subset group of 100 humans to confirm the results of the Ag-ELISA. One hundred serum samples from pigs were also analysed by EITB. It appeared that 43 and 74% of humans and pigs had antibodies against T. solium cysticerci, respectively. It is concluded that contrary to the high exposure of the human population to T. solium that is suggested by EITB, the number of active cysticercosis cases, diagnosed by Ag-ELISA, was low, which may indicate endemic stability. The further use of complementary diagnostic methods for a better understanding of the epidemiology of T. solium is suggested.

  4. Comparison of new diagnostic tools for management of pediatric Mediterranean visceral leishmaniasis.

    Science.gov (United States)

    Cruz, Israel; Chicharro, Carmen; Nieto, Javier; Bailo, Begoña; Cañavate, Carmen; Figueras, María-Concepción; Alvar, Jorge

    2006-07-01

    New techniques are available for diagnosing leishmaniasis, but their efficacy in the identification of pediatric visceral leishmaniasis (VL) has not been compared with that of traditional methods. Blood, bone marrow, and urine samples were taken from 25 children with VL during their first clinical episode, 22 days after the start of treatment with liposomal amphotericin B (3 mg/kg/day on 6 days over a 10-day period), and when a relapse was suspected during follow-up. The results obtained suggest that antibody detection techniques, the antigen detection in urine (KAtex kit), and Leishmania nested PCR (LnPCR) analysis of the blood could be used for diagnosis of the first clinical episode. After treatment, clinical improvement was associated with negativization of Novy-MacNeal-Nicolle culture and microscopy of bone marrow aspirate, KAtex test, and LnPCR blood analysis results. Interestingly, LnPCR analysis of the bone marrow aspirate showed that sterile cure was not achieved in eight patients, two of which suffered a relapse within 10 to 20 weeks. All of the new noninvasive techniques tested showed high diagnostic sensitivity. However, LnPCR analysis of the bone marrow was the most sensitive; this test was able to detect the persistence of parasites and predict potential relapses.

  5. Thyroid transcription factor-1 immunohistochemistry: diagnostic tool and malignancy marker in canine malignant lung tumours.

    Science.gov (United States)

    Bettini, G; Marconato, L; Morini, M; Ferrari, F

    2009-03-01

    Distinguishing primary lung carcinomas (PLCs) from metastases is a challenging task. The diagnostic and prognostic relevance of thyroid transcription factor-1 (TTF-1), a nuclear protein expressed in follicular cells of the thyroid gland and pneumocytes, was tested in 34 primary and 27 nonprimary canine lung tumours. Normal pneumocytes stained negatively in 14 PLCs because of overfixation or prolonged storage of paraffin blocks and were excluded from the study. Among the 20 immunoreactive PLCs, 17 showed strong nuclear positivity. The three tumours that scored negative were two squamous cell and one papillary carcinoma. Metastatic tumours were always negative. TTF-1 was 100% specific and 85% sensitive for PLCs. There was no significant relationship among the percentage of labelled tumour cells (TTF-1 index) and the considered clinicopathological parameters (age, gender, histological type, tumour grade, TNM stage, node status and MIB-1 index). TTF-1 immunohistochemistry may give useful additional information regarding the origin of canine lung tumours, whereas its prognostic use still needs to be determined.

  6. Development of an Internet-Enabled Tool for NSTX-U Thomson Diagnostic Data

    Science.gov (United States)

    Wallace, William; Diallo, Ahmed

    2016-10-01

    MultiPoint Thomson Scattering (MPTS) is an established, accurate method of finding the temperature, density, and pressure of a magnetically confined plasma. Two Nd:YAG (1064 nm) lasers are fired into the plasma with a effective frequency of 60 Hz, and the light is Doppler shifted by Thomson scattering. Polychromators on the NSTX-U midplane collect the scattered photons at various radii/scattering angles, and the avalanche photodiode voltages are saved to an MDSplus tree for later analysis. IDL code is then used to determine plasma temperature, pressure, and density from the captured polychromator measurements via Selden formulas.[1] OMFIT, from the General Atomics Fusion Theory Team, is a rich data workflow package used on DIII-D, NSTX-U, and other experiments to rapidly investigate and draw conclusions from collated data sets and simulations. OMFIT can also be used as a data access source into other toolkits and fusion analysis software. This project, written in Python and taking advantage of late-generation Internet software technologies, uses OMFIT to rapidly find and visualize Thomson diagnostic plasma characteristics enabling scientists to gain a quick understanding of shot behavior and timeframes.

  7. Infrared vibrational spectroscopy: a rapid and novel diagnostic and monitoring tool for cystinuria

    Science.gov (United States)

    Oliver, Katherine V.; Vilasi, Annalisa; Maréchal, Amandine; Moochhala, Shabbir H.; Unwin, Robert J.; Rich, Peter R.

    2016-01-01

    Cystinuria is the commonest inherited cause of nephrolithiasis (~1% in adults; ~6% in children) and is the result of impaired cystine reabsorption in the renal proximal tubule. Cystine is poorly soluble in urine with a solubility of ~1 mM and can readily form microcrystals that lead to cystine stone formation, especially at low urine pH. Diagnosis of cystinuria is made typically by ion-exchange chromatography (IEC) detection and quantitation, which is slow, laboursome and costly. More rapid and frequent monitoring of urinary cystine concentration would significantly improve the diagnosis and clinical management of cystinuria. We used attenuated total reflection - Fourier transform infrared spectroscopy (ATR-FTIR) to detect and quantitate insoluble cystine in 22 cystinuric and 5 healthy control urine samples. Creatinine concentration was also determined by ATR-FTIR to adjust for urinary concentration/dilution. Urine was centrifuged, the insoluble fraction re-suspended in 5 μL water and dried on the ATR prism. Cystine was quantitated using its 1296 cm−1 absorption band and levels matched with parallel measurements made using IEC. ATR-FTIR afforded a rapid and inexpensive method of detecting and quantitating insoluble urinary cystine. This proof-of-concept study provides a basis for developing a high-throughput, cost-effective diagnostic method for cystinuria, and for point-of-care clinical monitoring PMID:27721432

  8. Fetal alcohol syndrome – causes, diagnostic criteria and prevalence

    Directory of Open Access Journals (Sweden)

    Agata Horecka-Lewitowicz

    2014-04-01

    Full Text Available Fetal alcohol syndrome (FAS is the outcome of alcohol exposition in the prenatal period. It is irreversible. In Poland, FAS is becoming more and more common, the diagnostic tools are limited though. It is recommended to use the 4-Digit Diagnostic Code, which evaluates the 4 basic FAS symptoms: growth retardation, dysmorphic appearance, damage to the central nervous system and prenatal alcohol exposure. It has been confirmed that there is no safe amount of alcohol for a mother to drink while carrying a baby. To put it another way, only a complete lack of alcohol consumption is a guarantee that the baby will not suffer from FAS. It is necessary for society to know that even the smallest amount of alcohol is bad for the foetus. A number of people still believe that, for example, red wine is good and healthy for both the mother and child.

  9. Follow-up studies in prenatal medicine

    NARCIS (Netherlands)

    Nagel, Hélène Theodora Catharina

    2007-01-01

    With the availability of prenatal diagnostics in the last century, the fetus became a patient. Obstetricians looked togheter with neonatologist and pediatric surgeons, who in the past needed to treat sick neonates, for an earlier moment of treatment. An example of such a shift towards an earlier mom

  10. Follow-up studies in prenatal medicine

    NARCIS (Netherlands)

    Nagel, Hélène Theodora Catharina

    2007-01-01

    With the availability of prenatal diagnostics in the last century, the fetus became a patient. Obstetricians looked togheter with neonatologist and pediatric surgeons, who in the past needed to treat sick neonates, for an earlier moment of treatment. An example of such a shift towards an earlier mom

  11. Noninvasive prenatal detection of genetic defects

    NARCIS (Netherlands)

    Oever, Jessica Maria Elisabeth van den

    2016-01-01

    Current prenatal diagnostics is mainly based on obtaining fetal DNA through invasive procedures such as chorionic villi sampling (CVS) or amniocentesis. These procedures are associated with a small, but significant risk of fetal loss. The discovery of the presence of cell-free fetal DNA (cffDNA) in

  12. Optical property measurements as a diagnostic tool for control of materials processing in space and on Earth

    Science.gov (United States)

    Krishnan, Shankar; Weber, J. K. Richard; Nordine, Paul C.; Schiffman, Robert A.

    1990-01-01

    A new method is described, including results, to measure, control, and follow containerless processing in ground based levitators. This technique enables instantaneous optical property measurements from a transient solid or liquid surface concurrent with true temperature measurement. This was used successfully as a diagnostic tool to follow processing of Al, Si, and Ti during electromagnetic levitation. Experiments on Al show the disappearance of the oxide (emittance 0.33) at ca. 1300 C leaving a liquid surface with an emittance of 0.06. Electromagnetic levitation of silicon shows a liquid with a constant emittance (0.2) but with a solid whose emittance decreases very rapidly with increasing temperature. Consequently, the processing of materials at high temperatures can be controlled quite well through the control of surface optical properties.

  13. 毛细管电泳在产前诊断地中海贫血中的应用%DIAGNOSTIC UTILITY OF CAPILLARY ELECTROPHORESIS IN PRENATAL DIAGNOSIS SCREENING FOR THALASSEMIA

    Institute of Scientific and Technical Information of China (English)

    郭浩; 郭莉; 唐斌; 陈汉彪; 杜丽; 王奕霞

    2015-01-01

    Objective To study the diagnostic utility of capillary electrophoresis in prenatal diagnosis screening for thalassemia .Methods Between January 2013 and June 2014, 286 pregnant women were recruited who attended the prenatal diagnosis screening for thalassemia with hemoglobin electrophoresis and genetic testing at third term.Results With the genetic testing , 83 cases were normal;21 cases were homozygous α-thalassemia;13 cases wereα-thalassemia intermedia;86 cases were mildα-thalassemia;11 cases were'silent'α-thalassemia.Besides, 15 cases were homozygous β-thalassemia;51 cases were heterozygotes β-thalassemia;6 cases were compound het-erozygotes mutation of the αand β-globin chain gene .The results showed that increased Hb Bart's level or the pro-portion of Hb A in fetuses could be induced by the severity of thalassemia .Conclusion Capillary electrophoresis was definitely helpful in prenatal diagnosis screening for thalassemia at the third term .%目的:探讨毛细管电泳技术在产前诊断地中海贫血中的应用价值。方法2013年1月~2014年6月期间在本院因夫妇双方为同型地中海贫血为产前诊断指征且孕周为24~34周的就诊病例286例。对脐带穿刺后获取的脐血标本进行血红蛋白毛细管电泳和地中海贫血基因诊断。结果286例标本中,正常83例,巴氏水肿胎21例, Hb H 13例,轻型α-地贫86例,静止型α-地贫11例,重型β-地贫15例,轻型β-地贫51例,α复合β-地贫6例。脐血血红蛋白组成分析显示α-地贫胎儿脐血Hb Bart ’ s百分含量随受累α-珠蛋白基因个数的增加而增多,β-地贫胎儿脐血Hb A百分含量随受累β-珠蛋白基因个数的增加而减少。结论毛细管电泳能辅助诊断孕晚期胎儿α地中海贫血及β地中海贫血。

  14. In-situ diagnostic tools for hydrogen transfer leak characterization in PEM fuel cell stacks part II: Operational applications

    Science.gov (United States)

    Niroumand, Amir M.; Homayouni, Hooman; DeVaal, Jake; Golnaraghi, Farid; Kjeang, Erik

    2016-08-01

    This paper describes a diagnostic tool for in-situ characterization of the rate and distribution of hydrogen transfer leaks in Polymer Electrolyte Membrane (PEM) fuel cell stacks. The method is based on reducing the air flow rate from a high to low value at a fixed current, while maintaining an anode overpressure. At high air flow rates, the reduction in air flow results in lower oxygen concentration in the cathode and therefore reduction in cell voltages. Once the air flow rate in each cell reaches a low value at which the cell oxygen-starves, the voltage of the corresponding cell drops to zero. However, oxygen starvation results from two processes: 1) the electrochemical oxygen reduction reaction which produces current; and 2) the chemical reaction between oxygen and the crossed over hydrogen. In this work, a diagnostic technique has been developed that accounts for the effect of the electrochemical reaction on cell voltage to identify the hydrogen leak rate and number of leaky cells in a fuel cell stack. This technique is suitable for leak characterization during fuel cell operation, as it only requires stack air flow and voltage measurements, which are readily available in an operational fuel cell system.

  15. Ultrasonography as a diagnostic tool in assessing deltoid ligament injury in supination external rotation fractures of the ankle.

    LENUS (Irish Health Repository)

    Henari, Shwan

    2011-10-01

    The medial deltoid ligament is the primary stabilizing structure in the ankle joint following lateral malleolar fracture. However, medial deltoid ligament ruptures are difficult to diagnose using current imaging modalities. We hypothesized that ultrasonography can be used to accurately allow early clinical assessment of ankle fracture stability, thereby negating the need to perform plain film stress views of the acutely injured ankle. This prospective study included 12 patients (age range, 18-72) with supination external rotation fractures requiring operative fixation. Following induction of anesthesia, ultrasonography examination was performed, followed by an arthrogram under fluoroscopic screening. Radiographs, ultrasonography, and arthrographic findings were compared. There was 100% correlation between ultrasonography and arthrogram findings. Ultrasonography accurately diagnosed medial deltoid rupture with a sensitivity of 100% and specificity of 100%. Plain film radiographs of the ankle had a sensitivity of 57.1% and a specificity of 60%. The difference between these was significant (χ(2)=.0091). This study demonstrates diagnostic ultrasonography to be an accurate diagnostic modality in assessing medial deltoid ligament integrity in patients with supination external rotation fractures. It offers the same sensitivity and specificity as arthrography without the need for additional invasive procedures. Its relative ease of use and lack of ionizing radiation make it a potentially useful tool, particularly in a busy trauma service.

  16. Detection of collagen by second harmonic microscopy as a diagnostic tool for liver fibrosis

    Science.gov (United States)

    Banavar, Maruth; Kable, Eleanor P. W.; Braet, Filip; Wang, X. M.; Gorrell, M. D.; Cox, Guy

    2006-02-01

    Liver fibrosis has many causes, including hepatitis C, alcohol abuse, and non-alcoholic steatohepatitis. It is characterized by abnormal deposition of extracellular matrix proteins, mainly collagen. The deposition of these proteins results in impaired liver function caused by distortion of the hepatic architecture by fibrous scar tissue. The unique triple helix structure of collagen and high level of crystallinity make it very efficient for generating second harmonic signals. In this study we have set out to see if second harmonic imaging of collagen can be used as a non-biased quantitative tool for classification of fibrosis levels in liver biopsies and if it can detect early fibrosis formation not detected by current methods.

  17. DIAGNOSTICS OF WORKPIECE SURFACE CONDITION BASED ON CUTTING TOOL VIBRATIONS DURING MACHINING

    Directory of Open Access Journals (Sweden)

    Jerzy Józwik

    2015-05-01

    Full Text Available The paper presents functional relationships between surface geometry parameters, feed and vibrations level in the radial direction of the workpiece. Time characteristics of the acceleration of cutting tool vibration registered during C45 steel and stainless steel machining for separate axes (X, Y, Z were presented as a function of feedrate f. During the tests surface geometric accuracy assessment was performed and 3D surface roughness parameters were determined. The Sz parameter was selected for the analysis, which was then collated with RMS vibration acceleration and feedrate f. The Sz parameter indirectly provides information on peak to valley height and is characterised by high generalising potential i.e. it is highly correlated to other surface and volume parameters of surface roughness. Test results presented in this paper may constitute a valuable source of information considering the influence of vibrations on geometric accuracy of elements for engineers designing technological processes.

  18. The multi-component field topology of sunspot penumbrae - A diagnostic tool for spectropolarimetric measurements

    CERN Document Server

    Mueller, D A N; Fritz, G; Beck, C

    2006-01-01

    Context: Sunspot penumbrae harbor highly structured magnetic fields and flows. The moving flux tube model offers an explanation for several observed phenomena, e.g. the Evershed effect and bright penumbral grains. Aims: A wealth of information can be extracted from spectropolarimetric observations. In order to deduce the structure of the magnetic field in sunspot penumbrae, detailed forward modeling is necessary. On the one hand, it gives insight into the sensitivity of various spectral lines to different physical scenarios. On the other hand, it is a very useful tool to guide inversion techniques. In this work, we present a generalized 3D geometrical model that embeds an arbitrarily shaped flux tube in a stratified magnetized atmosphere. Methods: The new semi-analytical geometric model serves as a frontend for a polarized radiative transfer code. The advantage of this model is that it preserves the discontinuities of the physical parameters across the flux tube boundaries. This is important for the detailed ...

  19. Novel Diagnostic and Monitoring Tools in Stroke: an Individualized Patient-Centered Precision Medicine Approach.

    Science.gov (United States)

    de Villiers, Sulette; Swanepoel, Albe; Bester, Janette; Pretorius, Etheresia

    2016-05-02

    Central to the pathogenesis of ischaemic stroke are the normally protective processes of platelet adhesion and activation. Experimental evidence has shown that the ligand-receptor interactions in ischaemic stroke represent a thrombo-inflammatory cascade, which presents research opportunities into new treatment. However, as anti-platelet drugs have the potential to cause severe side effects in ischaemic stroke patients (as well as other vascular disease patients), it is important to carefully monitor the risk of bleeding and risk of thrombus in patients receiving treatment. Because thrombo-embolic ischaemic stroke is a major health issue, we suggest that the answer to adequate treatment is based on an individualized patient-centered approach, inline with the latest NIH precision medicine approach. A combination of viscoelastic methodologies may be used in a personalized patient-centered regime, including thromboelastography (TEG®) and the lesser used scanning electron microscopy approach (SEM). Thromboelastography provides a dynamic measure of clot formation, strength, and lysis, whereas SEM is a visual structural tool to study patient fibrin structure in great detail. Therefore, we consider the evidence for TEG® and SEM as unique means to confirm stroke diagnosis, screen at-risk patients, and monitor treatment efficacy. Here we argue that the current approach to stroke treatment needs to be restructured and new innovative thought patterns need to be applied, as even approved therapies require close patient monitoring to determine efficacy, match treatment regimens to each patient's individual needs, and assess the risk of dangerous adverse effects. TEG® and SEM have the potential to be a useful tool and could potentially alter the clinical approach to managing ischaemic stroke. As envisaged in the NIH precision medicine approach, this will involve a number of role players and innovative new research ideas, with benefits that will ultimately only be realized in a

  20. FINE NEEDLE ASPIRATION CYTOLOGY IS A DIAGNOSTIC TOOL IN THE THYROID LESION

    Directory of Open Access Journals (Sweden)

    Mani

    2015-12-01

    Full Text Available Thyroid nodules the main indication for FNAC, and the goal of this diagnostic procedure is to detect thyroid neoplasm for surgical resection and to identify non-neoplastic lesions that may be managed conservatively. MATERIAL AND METHOD Three hundred and fourteen patients with thyroid nodules diagnosed on physical examination underwent fine-needle aspiration with 23-gauge needle and 10ml syringe. FNAC results were classified into non-neoplastic lesion and neoplastic lesion for diagnosis. RESULT AND ANALYSIS We included 314 cases; 37 were male and 277 were female with female-to-male ratio of 7.48:1. The age ranged from 8 to 87 years with a median age of 47.5 years. Maximum number of patients were found in age group of 41-50 years. In the present study we found 285(90.76% non-neoplastic lesion and 29(9.23% neoplastic lesions. Out of 285 non-neoplastic lesion, most commonly encountered were colloid goiter 178(56.68% and second most common thyroiditis 100(31.84%. Out of 314,29(9.23% neoplastic lesions, most commonly encountered neoplasm were papillary carcinoma 14(4.45% followed by 9(2.86% follicular neoplasm, Hurthle cell neoplasm 2(0.63%, medullary carcinoma 4(1.27%. AIMS AND OBJECTIVES  To study the distribution of various thyroid lesions among the age and sex groups.  To study the cytomorphological, clinical and biochemical correlation. CONCLUSION Clinical features and serum findings when used alone to diagnose thyroid lesion, diagnosis will be missed in many cases.

  1. Children’s Sleep Comic: development of a new diagnostic tool for children with sleep disorders

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    Schwerdtle B

    2012-08-01

    Full Text Available Barbara Schwerdtle,1 Julia Kanis,1 Lena Kahl,1 Andrea Kübler,1,2 Angelika A Schlarb3,41Institute of Psychology, Department of Psychology I, University of Würzburg, Würzburg, 2Institute of Medical Psychology and Behavioral Neurobiology, 3Faculty of Science, Clinical and Developmental Psychology, University of Tübingen, Tübingen, 4Department of Clinical Psychology and Psychotherapy, University of Koblenz-Landau, Landau, GermanyBackground: A solid diagnosis of sleep disorders in children should include both self-ratings and parent ratings. However, there are few standardized self-assessment instruments to meet this need. The Children’s Sleep Comic is an adapted version of the unpublished German questionnaire “Freiburger Kinderschlafcomic” and provides pictures for items and responses. Because the drawings were outdated and allowed only for qualitative analysis, we revised the comic, tested its applicability in a target sample, and suggest a procedure for quantitative analysis.Methods: All items were updated and pictures were newly drawn. We used a sample of 201 children aged 5–10 years to test the applicability of the Children’s Sleep Comic in young children and to run a preliminary analysis.Results: The Children’s Sleep Comic comprises 37 items covering relevant aspects of sleep disorders in children. Application took on average 30 minutes. The procedure was well accepted by the children, as reflected by the absence of any dropouts. First comparisons with established questionnaires indicated moderate correlations.Conclusion: The Children’s Sleep Comic is appropriate for screening sleep behavior and sleep problems in children. The interactive procedure can foster a good relationship between the investigator and the child, and thus establish the basis for successful intervention if necessary.Keywords: children, sleep, sleep disorders, diagnostic, assessment, self-rating

  2. Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome.

    Science.gov (United States)

    Beicht, Sonja; Strobl-Wildemann, Gertrud; Rath, Sabine; Wachter, Oliver; Alberer, Martin; Kaminsky, Elke; Weber, Lutz T; Hinrichsen, Tanja; Klein, Hanns-Georg; Hoefele, Julia

    2013-09-10

    Alport syndrome (ATS) is a progressive hereditary nephropathy characterized by hematuria and/or proteinuria with structural defects of the glomerular basement membrane. It can be associated with extrarenal manifestations (high-tone sensorineural hearing loss and ocular abnormalities). Somatic mutations in COL4A5 (X-linked), COL4A3 and COL4A4 genes (both autosomal recessive and autosomal dominant) cause Alport syndrome. Somatic mosaicism in Alport patients is very rare. The reason for this may be due to the difficulty of detection. We report the case of a boy and his mother who presented with Alport syndrome. Mutational analysis showed the novel hemizygote pathogenic mutation c.2396-1G>A (IVS29-1G>A) at the splice acceptor site of the intron 29 exon 30 boundary of the COL4A5 gene in the boy. The mutation in the mother would not have been detected by Sanger sequencing without the knowledge of the mutational analysis result of her son. Further investigation of the mother using next generation sequencing showed somatic mosaicism and implied potential germ cell mosaicism. The mutation in the mother has most likely occurred during early embryogenesis. Analysis of tissue of different embryonic origin in the mother confirmed mosaicism in both mesoderm and ectoderm. Low grade mosaicism is very difficult to detect by Sanger sequencing. Next generation sequencing is increasingly used in the diagnostics and might improve the detection of mosaicism. In the case of definite clinical symptoms of ATS and missing detection of a mutation by Sanger sequencing, mutational analysis should be performed by next generation sequencing.

  3. A new molecular diagnostic tool for surveying and monitoring Triops cancriformis populations

    Directory of Open Access Journals (Sweden)

    Graham S. Sellers

    2017-05-01

    Full Text Available The tadpole shrimp, Triops cancriformis, is a freshwater crustacean listed as endangered in the UK and Europe living in ephemeral pools. Populations are threatened by habitat destruction due to land development for agriculture and increased urbanisation. Despite this, there is a lack of efficient methods for discovering and monitoring populations. Established macroinvertebrate monitoring methods, such as net sampling, are unsuitable given the organism’s life history, that include long lived diapausing eggs, benthic habits and ephemerally active populations. Conventional hatching methods, such as sediment incubation, are both time consuming and potentially confounded by bet-hedging hatching strategies of diapausing eggs. Here we develop a new molecular diagnostic method to detect viable egg banks of T. cancriformis, and compare its performance to two conventional monitoring methods involving diapausing egg hatching. We apply this method to a collection of pond sediments from the Wildfowl & Wetlands Trust Caerlaverock National Nature Reserve, which holds one of the two remaining British populations of T. cancriformis. DNA barcoding of isolated eggs, using newly designed species-specific primers for a large region of mtDNA, was used to estimate egg viability. These estimates were compared to those obtained by the conventional methods of sediment and isolation hatching. Our method outperformed the conventional methods, revealing six ponds holding viable T. cancriformis diapausing egg banks in Caerlaverock. Additionally, designed species-specific primers for a short region of mtDNA identified degraded, inviable eggs and were used to ascertain the levels of recent mortality within an egg bank. Together with efficient sugar flotation techniques to extract eggs from sediment samples, our molecular method proved to be a faster and more powerful alternative for assessing the viability and condition of T. cancriformis diapausing egg banks.

  4. Algorithms for optimized maximum entropy and diagnostic tools for analytic continuation

    Science.gov (United States)

    Bergeron, Dominic; Tremblay, A.-M. S.

    2016-08-01

    Analytic continuation of numerical data obtained in imaginary time or frequency has become an essential part of many branches of quantum computational physics. It is, however, an ill-conditioned procedure and thus a hard numerical problem. The maximum-entropy approach, based on Bayesian inference, is the most widely used method to tackle that problem. Although the approach is well established and among the most reliable and efficient ones, useful developments of the method and of its implementation are still possible. In addition, while a few free software implementations are available, a well-documented, optimized, general purpose, and user-friendly software dedicated to that specific task is still lacking. Here we analyze all aspects of the implementation that are critical for accuracy and speed and present a highly optimized approach to maximum entropy. Original algorithmic and conceptual contributions include (1) numerical approximations that yield a computational complexity that is almost independent of temperature and spectrum shape (including sharp Drude peaks in broad background, for example) while ensuring quantitative accuracy of the result whenever precision of the data is sufficient, (2) a robust method of choosing the entropy weight α that follows from a simple consistency condition of the approach and the observation that information- and noise-fitting regimes can be identified clearly from the behavior of χ2 with respect to α , and (3) several diagnostics to assess the reliability of the result. Benchmarks with test spectral functions of different complexity and an example with an actual physical simulation are presented. Our implementation, which covers most typical cases for fermions, bosons, and response functions, is available as an open source, user-friendly software.

  5. Evaluation of Ultrasonography as a Diagnostic Tool in Maxillofacial Space Infections

    Directory of Open Access Journals (Sweden)

    Praveen Kumar Pandey

    2011-11-01

    Full Text Available Objectives: The purpose of the study was to establish the role of ultrasonography in determining the involvement of specific fascial spaces in maxillofacial region and the stage of infection, in indicating the appropriate time for surgical intervention and to compare clinical and ultrasonographic findings.Material and Methods: Twenty five patients with fascial space infection in maxillofacial region were subjected to ultrasonographic examination following a detailed clinical and radiological examination. Ultrasonography guided needle aspiration was performed. Based on the findings, patients diagnosed with abscess were subjected to incision and drainage and those with cellulitis were subjected to medical line of treatment.Results: More than one fascial space was involved in all patients. On clinical examination 64 spaces were involved, of them 34 spaces had abscess formation and 30 spaces were in the stage of cellulitis. On ultrasonography examination, 28 spaces were reported to have abscess formation and 36 spaces were diagnosed to be in the stage of cellulitis. On comparative analysis of both clinical and ultrasonographic findings, ultrasonography was found to be sensitive in 65% of the cases and having specificity of 80%. It was registered statistically significant (P < 0.001 agreement between these two methods of assessment (kappa index = 0.814.Conclusions: Ultrasonography is a quick, widely available, relatively inexpensive, and painless procedure and can be repeated as often as necessary without risk to the patient. Thus ultrasonography is a valuable diagnostic aid to the oral and maxillofacial surgeon for early and accurate diagnosis of fascial space infection, their appropriate treatment and to limit their further spread.

  6. Serum biomarkers reflecting specific tumor tissue remodeling processes are valuable diagnostic tools for lung cancer.

    Science.gov (United States)

    Willumsen, Nicholas; Bager, Cecilie L; Leeming, Diana J; Smith, Victoria; Christiansen, Claus; Karsdal, Morten A; Dornan, David; Bay-Jensen, Anne-Christine

    2014-10-01

    Extracellular matrix (ECM) proteins, such as collagen type I and elastin, and intermediate filament (IMF) proteins, such as vimentin are modified and dysregulated as part of the malignant changes leading to disruption of tissue homeostasis. Noninvasive biomarkers that reflect such changes may have a great potential for cancer. Levels of matrix metalloproteinase (MMP) generated fragments of type I collagen (C1M), of elastin (ELM), and of citrullinated vimentin (VICM) were measured in serum from patients with lung cancer (n = 40), gastrointestinal cancer (n = 25), prostate cancer (n = 14), malignant melanoma (n = 7), chronic obstructive pulmonary disease (COPD) (n = 13), and idiopathic pulmonary fibrosis (IPF) (n = 10), as well as in age-matched controls (n = 33). The area under the receiver operating characteristics (AUROC) was calculated and a diagnostic decision tree generated from specific cutoff values. C1M and VICM were significantly elevated in lung cancer patients as compared with healthy controls (AUROC = 0.98, P < 0.0001) and other cancers (AUROC = 0.83 P < 0.0001). A trend was detected when comparing lung cancer with COPD+IPF. No difference could be seen for ELM. Interestingly, C1M and VICM were able to identify patients with lung cancer with a positive predictive value of 0.9 and an odds ratio of 40 (95% CI = 8.7-186, P < 0.0001). Biomarkers specifically reflecting degradation of collagen type I and citrullinated vimentin are applicable for lung cancer patients. Our data indicate that biomarkers reflecting ECM and IMF protein dysregulation are highly applicable in the lung cancer setting. We speculate that these markers may aid in diagnosing and characterizing patients with lung cancer.

  7. Differential scanning calorimetry of gliomas: a new tool in brain cancer diagnostics?

    Science.gov (United States)

    Chagovetz, Alexis A; Quinn, Colette; Damarse, Neil; Hansen, Lee D; Chagovetz, Alexander M; Jensen, Randy L

    2013-08-01

    Thermal stability signatures of complex molecular interactions in biological fluids can be measured using differential scanning calorimetry (DSC). Evaluating the thermal stability of plasma proteomes offers a method of producing a disease-specific "signature" (thermogram) in neoplastic and autoimmune diseases. The authors describe the use of DSC with human brain tumor tissue to create unique thermograms for correlation with histological tumor classification. Primary brain tumors were classified according to the World Health Organization classification. Tumor samples were digested and assayed by a DSC calorimeter. Experimental thermograms were background subtracted and normalized to the total area of transitions to exclude concentration effects. The resulting thermograms were analyzed by applying 2-state, scaled, Gaussian distributions. Differences in glioma-specific signatures are described by using calculated parameters at transitions that are characterized, in the equilibrium approximation, by a melting temperature (Tm), an apparent enthalpy change (ΔH), and a scaling factor related to the relative abundance of the materials denatured in the transition (Aw). Thermogram signatures of glioblastoma multiforme and low-grade astrocytomas were differentiated by calculated values of Aw3 and Tm4, those of glioblastoma multiforme and oligodendrogliomas were differentiated by Aw2, ΔH2, ΔH4, and Tm4, and those of low-grade astrocytomas and oligodendroglioma were differentiated by Aw4. Our preliminary results suggest that solid brain tumors exhibit specific thermogram profiles that are distinguishable among glioma grades. We anticipate that our results will form the conceptual base of a novel diagnostic assay based on tissue thermograms as a complement to currently used histological analysis.

  8. Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies

    Directory of Open Access Journals (Sweden)

    G Meola

    2009-06-01

    Full Text Available Hereditary muscle channelopathies are caused by dominant mutations in the genes encoding for subunits of muscle voltage- gated ion channels. Point mutations on the human skeletal muscle Na+ channel (Nav1.4 give rise to hyperkalemic periodic paralysis, potassium aggravated myotonia, paramyotonia congenita and hypokalemic periodic paralysis type 2. Point mutations on the human skeletal muscle Ca2+ channel give rise to hypokalemic periodic paralysis and malignant hyperthermia. Point mutations in the human skeletal chloride channel ClC-1 give rise to myotonia congenita. Point mutations in the inwardly rectifying K+ channel Kir2.1 give rise to a syndrome characterized by periodic paralysis, severe cardiac arrhythmias and skeletal alterations (Andersen’s syndrome. Involvement of the same ion channel can thus give rise to different phenotypes. In addition, the same mutation can lead to different phenotypes or similar phenotypes can be caused by different mutations on the same or on different channel subtypes. Bearing in mind, the complexity of this field, the growing number of potential channelopathies (such as the myotonic dystrophies, and the time and cost of the genetic procedures, before a biomolecular approach is addressed, it is mandatory to apply strict diagnostic protocols to screen the patients. In this study we propose a protocol to be applied in the diagnosis of the hereditary muscle channelopathies and we demonstrate that muscle biopsy studies and muscle cell cultures may significantly contribute towards the correct diagnosis of the channel involved. DNAbased diagnosis is now a reality for many of the channelopathies. This has obvious genetic counselling, prognostic and therapeutic implications.

  9. Prenatal 3- and 4-dimensional Ultrasonographic Findings of Giant Fetal Nuchal Hemangioma

    Directory of Open Access Journals (Sweden)

    Jenn-Jhy Tseng

    2007-10-01

    Full Text Available A precise prenatal diagnosis of hemangioma may be uncertain although a variety of the antenatal appearances on 2-dimensional sonography have been reported. A 27-year-old primigravida was referred at 32 weeks of gestation for evaluation of a fetal nuchal mass. Two-dimensional sonography showed an extracranial mixed echogenic mass (65 × 54 × 59 mm occupying the posterior neck. Color Doppler imaging revealed intense hypervascularization. Three-dimensional (3D and 4-dimensional (4D sonography showed that the mass was lobulated, with a lumpy internal structure. Nuchal hemangioma was further confirmed by clinical examination and postnatal magnetic resonance imaging. The tumor began to regress in size when the infant was 7 months old. Prenatal 3D/4D ultrasound techniques could be considered as complementary diagnostic tools for such a tumor. They have the advantages of providing accurate and inexpensive virtual reality images through more realistic interactions with the virtualized in utero condition.

  10. Application of Infrared Thermography as a Diagnostic Tool of Knee Osteoarthritis

    Science.gov (United States)

    Arfaoui, Ahlem; Bouzid, Mohamed Amine; Pron, Hervé; Taiar, Redha; Polidori, Guillaume

    This paper aimed to study the feasibility of application of infrared thermography to detect osteoarthritis of the knee and to compare the distribution of skin temperature between participants with osteoarthritis and those without pathology. All tests were conducted at LACM (Laboratory of Mechanical Stresses Analysis) and the gymnasium of the University of Reims Champagne Ardennes. IR thermography was performed using an IR camera. Ten participants with knee osteoarthritis and 12 reference healthy participants without OA participated in this study. Questionnaires were also used. The participants with osteoarthritis of the knee were selected on clinical examination and a series of radiographs. The level of pain was recorded by using a simple verbal scale (0-4). Infrared thermography reveals relevant disease by highlighting asymmetrical behavior in thermal color maps of both knees. Moreover, a linear evolution of skin temperature in the knee area versus time has been found whatever the participant group is in the first stage following a given effort. Results clearly show that the temperature can be regarded as a key parameter for evaluating pain. Thermal images of the knee were taken with an infrared camera. The study shows that with the advantage of being noninvasive and easily repeatable, IRT appears to be a useful tool to detect quantifiable patterns of surface temperatures and predict the singular thermal behavior of this pathology. It also seems that this non-intrusive technique enables to detect the early clinical manifestations of knee OA.

  11. Rare splenic complications and specific serology: decisive diagnostic tools in two cases of visceral leishmaniasis

    Directory of Open Access Journals (Sweden)

    Andrea Celestini

    2012-01-01

    Full Text Available Introduction: Visceral leishmaniasis (VL is a major endemic vector-borne disease in Southern Europe. We present two cases of VL, both characterized by splenic complications. Methods and results: Case 1: A 47-year-old female presented with effort angina, hepatosplenomegaly and pancytopenia. The clinical course was complicated by splenic infarction. Although bone marrow biopsy failed to show amastigotes, diagnosis was performed by a fast agglutinating screening test (FAST and confirmed by a direct agglutinating test (DAT. The patient was treated successfully with AmBisome. Case 2: A 22-year-old male who had undergone a splenectomy to treat splenic rupture related to a minor trauma four months earlier presented with fever, nocturnal sweats and weight loss. The lack of pancytopenia was due to the absence of the spleen. The first biopsy did not identify parasites, but because the FAST had been positive, another bone marrow biopsy was performed, which demonstrated leishmaniasis. This patient was treated with the same schedule of AmBisome infusion. Discussion: 1 The clinical presentation of VL can be atypical, 2 splenic complications can characterize this disease, and 3 specific serology may be an important tool to reach a diagnosis.

  12. Power-Production Diagnostic Tools for Low-Density Wind Farms with Applications to Wake Steering

    Science.gov (United States)

    Takle, E. S.; Herzmann, D.; Rajewski, D. A.; Lundquist, J. K.; Rhodes, M. E.

    2016-12-01

    Hansen (2011) provided guidelines for wind farm wake analysis with applications to "high density" wind farms (where average distance between turbines is less than ten times rotor diameter). For "low-density" (average distance greater than fifteen times rotor diameter) wind farms, or sections of wind farms we demonstrate simpler sorting and visualization tools that reveal wake interactions and opportunities for wind farm power prediction and wake steering. SCADA data from a segment of a large mid-continent wind farm, together with surface flux measurements and lidar data are subjected to analysis and visualization of wake interactions. A time-history animated visualization of a plan view of power level of individual turbines provides a quick analysis of wake interaction dynamics. Yaw-based sectoral histograms of enhancement/decline of wind speed and power from wind farm reference levels reveals angular width of wake interactions and identifies the turbine(s) responsible for the power reduction. Concurrent surface flux measurements within the wind farm allowed us to evaluate stability influence on wake loss. A one-season climatology is used to identify high-priority candidates for wake steering based on estimated power recovery. Typical clearing prices on the day-ahead market are used to estimate the added value of wake steering. Current research is exploring options for identifying candidate locations for wind farm "build-in" in existing low-density wind farms.

  13. Direct blood dry LAMP: a rapid, stable, and easy diagnostic tool for Human African Trypanosomiasis.

    Directory of Open Access Journals (Sweden)

    Kyoko Hayashida

    2015-03-01

    Full Text Available Loop-mediated isothermal amplification (LAMP is a rapid and sensitive tool used for the diagnosis of a variety of infectious diseases. One of the advantages of this method over the polymerase chain reaction is that DNA amplification occurs at a constant temperature, usually between 60-65°C; therefore, expensive devices are unnecessary for this step. However, LAMP still requires complicated sample preparation steps and a well-equipped laboratory to produce reliable and reproducible results, which limits its use in resource-poor laboratories in most developing countries. In this study, we made several substantial modifications to the technique to carry out on-site diagnosis of Human African Trypanosomiasis (HAT in remote areas using LAMP. The first essential improvement was that LAMP reagents were dried and stabilized in a single tube by incorporating trehalose as a cryoprotectant to prolong shelf life at ambient temperature. The second technical improvement was achieved by simplifying the sample preparation step so that DNA or RNA could be amplified directly from detergent-lysed blood samples. With these modifications, diagnosis of HAT in local clinics or villages in endemic areas becomes a reality, which could greatly impact on the application of diagnosis not only for HAT but also for other tropical diseases.

  14. Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer.

    Science.gov (United States)

    Da Costa, Lydie; Suner, Ludovic; Galimand, Julie; Bonnel, Amandine; Pascreau, Tiffany; Couque, Nathalie; Fenneteau, Odile; Mohandas, Narla

    2016-01-01

    Inherited red blood cell (RBC) membrane disorders, such as hereditary spherocytosis, elliptocytosis and hereditary ovalocytosis, result from mutations in genes encoding various RBC membrane and skeletal proteins. The RBC membrane, a composite structure composed of a lipid bilayer linked to a spectrin/actin-based membrane skeleton, confers upon the RBC unique features of deformability and mechanical stability. The disease severity is primarily dependent on the extent of membrane surface area loss. RBC membrane disorders can be readily diagnosed by various laboratory approaches that include RBC cytology, flow cytometry, ektacytometry, electrophoresis of RBC membrane proteins and genetics. The reference technique for diagnosis of RBC membrane disorders is the osmotic gradient ektacytometry. However, in spite of its recognition as the reference technique, this technique is rarely used as a routine diagnosis tool for RBC membrane disorders due to its limited availability. This may soon change as a new generation of ektacytometer has been recently engineered. In this review, we describe the workflow of the samples shipped to our Hematology laboratory for RBC membrane disorder analysis and the data obtained for a large cohort of French patients presenting with RBC membrane disorders using a newly available version of the ektacytomer.

  15. Procalcitonin as an early diagnostic and monitoring tool in urosepsis following percutaneous nephrolithotomy.

    Science.gov (United States)

    Zheng, Ji; Li, Qianwei; Fu, Weihua; Ren, Jing; Song, Siji; Deng, Guoxian; Yao, Jiwei; Wang, Yongquan; Li, Weibing; Yan, Junan

    2015-02-01

    To evaluate the value of procalcitonin (PCT) as an early marker for diagnosis and differentiation of without urosepsis, urosepsis, severe urosepsis, and uroseptic shock following PCNL and the ability of PCT to assess the effectiveness of antibiotic therapy in patients with urosepsis. From June 2012 to August 2013, 267 patients undergoing PCNL for renal calculi, and who fulfilled selection criteria, were recruited into our study. The patients' medical records were reviewed retrospectively. One of selection criteria was the scores of PCT and WBC were collected at operative day, postoperative day one, day two, day three, day five and day seven. The area under the ROC curve for the prediction of urosepsis was 0.960 for PCT and 0.634 for WBC. PCT concentrations were higher in patients with uroseptic shock versus severe urosepsis versus urosepsis versus without urosepsis following PCNL. WBC values showed no significant difference between patients with urosepsis, severe urosepsis and uroseptic shock following PCNL. With time, in patients with successfully treated urosepsis following PCNL, the PCT concentrations significantly declined and kept decreasing from postoperative day two to postoperative day seven and the WBC scores showed no significant change over the first postoperative 2 days and were decreased only after postoperative day three. PCT appears to be a useful early marker to diagnosis and discriminate urosepsis, severe urosepsis and uroseptic shock following PCNL. Daily PCT measurements may be a valuable tool in monitoring the effectiveness of antibiotic therapy in urosepsis following PCNL.

  16. Third Harmonic Generation microscopy as a diagnostic tool for the investigation of microglia BV-2 and breast cancer cells activation

    Science.gov (United States)

    Gavgiotaki, E.; Filippidis, G.; Psilodimitrakopoulos, S.; Markomanolaki, H.; Kalognomou, M.; Agelaki, S.; Georgoulias, V.; Athanassakis, I.

    2015-07-01

    Nonlinear optical imaging techniques have created new opportunities of research in the biomedical field. Specifically, Third Harmonic Generation (THG) seems to be a suitable noninvasive imaging tool for the delineation and quantification of biological structures at the microscopic level. The aim of this study was to extract information as to the activation state of different cell types by using the THG imaging microscopy as a diagnostic tool. BV-2 microglia cell line was used as a representative biological model enabling the study of resting and activated state of the cells linked to various pathological conditions. Third Harmonic Generation (THG) and Two Photon Excitation Fluorescence (TPEF) measurements were simultaneously collected from stained breast cancer cells, by employing a single homemade experimental apparatus and it was shown that high THG signals mostly arise from lipid bodies. Continuously, BV-2 microglia cells were examined with or without activation by lipopolysaccharide (LPS) in order to discriminate between control and activated cells based on the quantification of THG signals. Statistically quantification was accomplished in both mean area and mean intensity values of THG. The values for mean total area and mean THG intensity values have been increased in activated versus the non-activated cells. Similar studies of quantification are underway in breast cancer cells for the exact discrimination on different cell lines. Furthermore, laser polarization dependence of SHG and THG signal in unstained biological samples is investigated.

  17. Characterizing the intrinsic bioremediation potential of 1,4-dioxane and trichloroethene using innovative environmental diagnostic tools.

    Science.gov (United States)

    Chiang, Sheau-Yun Dora; Mora, Rebecca; Diguiseppi, William H; Davis, Greg; Sublette, Kerry; Gedalanga, Phillip; Mahendra, Shaily

    2012-09-01

    An intrinsic biodegradation study involving the design and implementation of innovative environmental diagnostic tools was conducted to evaluate whether monitored natural attenuation (MNA) could be considered as part of the remedial strategy to treat an aerobic aquifer contaminated with 1,4-dioxane and trichloroethene (TCE). In this study, advanced molecular biological and stable isotopic tools were applied to confirm in situ intrinsic biodegradation of 1,4-dioxane and TCE. Analyses of Bio-Trap® samplers and groundwater samples collected from monitoring wells verified the abundance of bacteria and enzymes capable of aerobically degrading TCE and 1,4-dioxane. Furthermore, phospholipid fatty acid analysis with stable isotope probes (PLFA-SIP) of the microbial community validated the ability for microbial degradation of TCE and 1,4-dioxane. Compound specific isotope analysis (CSIA) of groundwater samples for TCE resulted in δ(13)C values that indicated likely biodegradation of TCE in three of the four monitoring wells sampled. Results of the MNA evaluation showed that enzymes capable of aerobically degrading TCE and 1,4-dioxane were present, abundant, and active in the aquifer. Taken together, these results provide direct evidence of the occurrence of TCE and 1,4-dioxane biodegradation at the study site, supporting the selection of MNA as part of the final remedy at some point in the future.

  18. Tools for Evaluating Fault Detection and Diagnostic Methods for HVAC Secondary Systems

    Science.gov (United States)

    Pourarian, Shokouh

    Although modern buildings are using increasingly sophisticated energy management and control systems that have tremendous control and monitoring capabilities, building systems routinely fail to perform as designed. More advanced building control, operation, and automated fault detection and diagnosis (AFDD) technologies are needed to achieve the goal of net-zero energy commercial buildings. Much effort has been devoted to develop such technologies for primary heating ventilating and air conditioning (HVAC) systems, and some secondary systems. However, secondary systems, such as fan coil units and dual duct systems, although widely used in commercial, industrial, and multifamily residential buildings, have received very little attention. This research study aims at developing tools that could provide simulation capabilities to develop and evaluate advanced control, operation, and AFDD technologies for these less studied secondary systems. In this study, HVACSIM+ is selected as the simulation environment. Besides developing dynamic models for the above-mentioned secondary systems, two other issues related to the HVACSIM+ environment are also investigated. One issue is the nonlinear equation solver used in HVACSIM+ (Powell's Hybrid method in subroutine SNSQ). It has been found from several previous research projects (ASRHAE RP 825 and 1312) that SNSQ is especially unstable at the beginning of a simulation and sometimes unable to converge to a solution. Another issue is related to the zone model in the HVACSIM+ library of components. Dynamic simulation of secondary HVAC systems unavoidably requires an interacting zone model which is systematically and dynamically interacting with building surrounding. Therefore, the accuracy and reliability of the building zone model affects operational data generated by the developed dynamic tool to predict HVAC secondary systems function. The available model does not simulate the impact of direct solar radiation that enters a zone

  19. Circulating tumor cells (CTCs) in breast cancer: a diagnostic tool for prognosis and molecular analysis

    Institute of Scientific and Technical Information of China (English)

    Xiaoshen Dong; R.Katherine Alpaugh; Massimo Cristofanilli

    2012-01-01

    Metastatic breast cancer (MBC) is characterized by a combination of tumor growth,proliferation and metastatic progression and is typically managed with palliative intent.The benefit of standard systemic therapies is relatively limited and the disease is considered incurable suggesting the need to investigate the biological drivers of the various phases of the metastatic process in order to improve the selection of molecularly driven therapies.The detection,enumeration and molecular analysis of circulating tumor cells (CTCs) provide an intriguing opportunity to advance this knowledge.CTCs enumerated by the Food and Drugs Administration-cleared CellSearchTM system are an independent prognostic factor of progression-free survival (PFS) and overall survival (OS) in MBC patients.Several published papers demonstrated the poor prognosis for MBC patients that presented basal CTC count ≥5 in 7.5 mL of blood.Therefore,the enumeration of CTCs during treatment for MBC provides a tool with the ability to predict progression of disease earlier than standard timing of anatomical assessment using conventional radiological tests.During the metastatic process cancer cells exhibit morphological and phenotypic plasticity undergoing epithelial-mesenchymal transition (EMT).This important phenomenon is associated with down regulation of epithelial marker (e.g.,EpCAM) with potential limitations in the applicability of current CTCs enrichment methods.Such observations translated in a number of investigations aimed at improving our capabilities to enumerate and perform molecular characterization of CTCs.Theoretically,the phenotypic analysis of CTCs can represent a "liquid" biopsy of breast tumor that is able to identify a new potential target against the metastatic disease and advance the development and monitoring of personalized therapies.

  20. Immunoassay for ethyl glucuronide in vitreous humor: a new tool for postmortem diagnostics of alcohol use.

    Science.gov (United States)

    Rainio, Juha; Kultti, Johanna; Kangastupa, Päivikki; Tuomi, Heidi; Ahola, Sanna; Karhunen, Pekka J; Helander, Anders; Niemelä, Onni

    2013-03-10

    Although excessive alcohol consumption plays a major role in fatal events, the role of alcohol use as a possible contributing factor at the time of death is not easy to establish due to lack of suitable biomarkers for postmortem analyses. We used an immunological approach to measure ethyl glucuronide (EtG) concentrations from vitreous humor (VH) and serum from 58 individuals representing a forensic autopsy population of cases with either a well-documented history of excessive alcohol use (n=37) or cases without such history (n=21), according to medical and police records and blood alcohol determinations (BAC). The immunoassay was based on the Microgenics DRI-EtG EIA reagents applied on an automated Abbott Architect c8000 clinical chemistry analyzer. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) determination of EtG and ethyl sulfate (EtS) was used as a reference method. At a cut-off of 0.3mg/l for VH-EtG, the immunoassay correctly identified 92% of the cases with a history of excessive alcohol use, whereas the BAC was positive (cut-off 10mg/dl) in 68% of the cases. A significant correlation emerged between VH-EtG and serum EtG (r=0.77, p<0.001) and between VH-EtG and BAC (r=0.62, p<0.001), although VH-EtG was frequently elevated also in cases with no detectable BAC. The EtG immunoassay showed a strong correlation with the LC-MS/MS reference method (r=0.94, p<0.001) and there was 100% agreement in the frequency of marker positive and negative findings between the immunoassay EtG results and the LC-MS/MS analysis of EtG and EtS. The present data indicate that the immunoassay for VH-EtG is a useful forensic tool for screening of antemortem alcohol use.

  1. Fluorescence: a diagnostic tool for the detection of stress in plants

    Science.gov (United States)

    Chappelle, Emmett W.; Corp, Lawrence A.; McMurtrey, James E., III; Kim, Moon S.; Daughtry, Craig S. T.

    1997-01-01

    Green vegetation when excited by specific wavelengths of light dissipates a portion of the absorbed energy as light emissions in the form of fluorescence in several broad areas of the spectrum. Currently, leaf level fluoresence emissions have been broken down into five primary regions, namely; ultraviolet (UV), blue, green, red, and near-infrared (NIR). The optimal excitation wavelengths for each of these bands was verified for healthy soybean leaves through the use of the EEM. Intact vegetation when excited at 280 nm emits substantial fluorescence in two bands; the first centered near 335 nm, and the second centered near 440 nm. UV band fluorescence from vegetation treated with varying levels of nitrogen decreases relative to the blur fluorescence as a function of total protein concentration. These studies indicate that in vivo UV band fluorescence can be utilized as a non-destructive tool to remotely sense variations in protein concentration due to nitrogen fertilization level. It has been well established that this fluorescence emission originates from proteins contain aromatic amino acids. The majority of plant proteins contain these amino acids and as a result have the potential to fluorescence in the region of the spectrum discussed here. Pure ribulose 1,5-bisphosphate carboxylase in aqueous solution exhibited intense UV fluorescence characteristics with excitation and emission distributions similar to those of intact vegetation. Due to its high concentration we believe this protein contributes to the UV band fluorescence emanating from the intact leaf. The red and NIR fluorescence emissions can be excited within the broad wavelength region from 250 to 675 nm with excitation maxima at 430 nm, 470 nm, 600 nm, and 660 nm. The ratio of red to NIR fluorescence excitation spectra produces a ratio spectrum which exhibits striking similarities to the action spectrum of photosynthesis. The relative differences between these two emission bands depend on the wavelength

  2. The California Prenatal Screening Program: "options and choices" not "coercion and eugenics".

    Science.gov (United States)

    Flessel, Monica C; Lorey, Fred W

    2011-08-01

    The California Prenatal Screening Program is designed to make prenatal screening available to the state's large and diverse population. The Program provides information to women which will allow them to make informed choices regarding prenatal screening and prenatal diagnosis. Since the Program's inception in 1986, women in California have had the option to participate in prenatal screening or to decline prenatal screening. The California Program offers prenatal diagnostic services to women whose screening tests indicate an increased risk for birth defects, including Down syndrome. Women can decline any or all of these follow-up services. Genetic counseling, diagnostic services, and the presentation of diagnostic results are performed by medical professionals (not State staff) who follow established guidelines for nondirective counseling. Program data clearly demonstrate that women in California have a wide range of options and make a wide range of choices regarding prenatal screening and prenatal diagnosis. California's comprehensive Prenatal Screening Program promotes optimal care for all women within all options and choices. The important and necessary communication among organizations and stakeholders involved in prenatal screening and diagnosis, and in related care for pregnant women and for people with Down syndrome, is not served by misrepresentation and inflammatory rhetoric.

  3. Prenatal psychosocial risk assessment using event history calendars with Black women.

    Science.gov (United States)

    Munro, Michelle L; Dahlem, Chin Hwa Y; Lori, Jody R; Martyn, Kristy K

    2012-01-01

    To explore the clinical acceptability and perceptions of use of a prenatal event history calendar (EHC) for prenatal psychosocial risk assessment in Black pregnant women. A qualitative descriptive study focused on interviews and prenatal EHCs completed by Black pregnant women. Inner city hospital prenatal care clinic in Southeastern Michigan. Thirty 18-35 year old pregnant Black women receiving prenatal care at the participating clinic. Women completed the prenatal EHCs and their perceptions of its use were obtained through face to face interviews. The constant comparative method of analysis (Glaser, 1978, 1992) revealed themes from participants' descriptions about use of a prenatal EHC for prenatal psychosocial risk assessment. Three main themes emerged describing how the prenatal EHC enhanced communication. The prenatal EHC provided "an opening" for disclosure, "an understanding with you," and a way for providers to "know you, your life, and future plans." The participants' completed prenatal EHCs included information regarding their pre-pregnancies, trimester histories, and future plans. These completed prenatal EHCs showed patterns of change in life events and behaviors that included worries, stressors, and risk behaviors. The participants perceived the prenatal EHC as an easy to use tool that should be used to improve communication with health care providers. The prenatal EHC allows the patient and provider to "start on the same page" and provides an additional avenue for discussion of sensitive psychosocial issues with Black pregnant women. As a clinical tool, the prenatal EHC facilitated patient-provider communication for pregnant women often marked by health disparities. The prenatal EHC is a clinically acceptable tool to assess for psychosocial risk factors of Black women in a prenatal clinical setting. © 2012 AWHONN, the Association of Women's Health, Obstetric and Neonatal Nurses.

  4. CRITERIA AND DIAGNOSTIC TOOLS FOR MONITORING QUALITY ASSESSMENT OF PRE-SERVICE TEACHERS’ TRAINING FOR PRACTICE-ORIENTED RESEARCH ACTIVITY

    Directory of Open Access Journals (Sweden)

    Tamara А. Strokova

    2016-01-01

    each of three levels of high school education – a bachelor degree, a magistracy and postgraduate study is defined. Practical significance. The proposed criteria and diagnostic tools can be used in work of higher education for monitor tracking the quality of learners training to research activity. 

  5. Ovarian cysts on prenatal MRI

    Energy Technology Data Exchange (ETDEWEB)

    Nemec, Ursula [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Nemec, Stefan F., E-mail: stefan.nemec@meduniwien.ac.at [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048 (United States); Bettelheim, Dieter [Department of Obstetrics and Gynaecology, Division of Prenatal Diagnosis and Therapy, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Brugger, Peter C. [Center of Anatomy and Cell Biology, Integrative Morphology Group, Medical University Vienna, Waehringerstrasse 13, A-1090 Vienna (Austria); Horcher, Ernst [Department of Pediatric Surgery, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Schoepf, Veronika [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Graham, John M.; Rimoin, David L. [Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048 (United States); Weber, Michael; Prayer, Daniela [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria)

    2012-08-15

    Objective: Ovarian cysts are the most frequently encountered intra-abdominal masses in females in utero. They may, at times, require perinatal intervention. Using magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US) in prenatal diagnosis, we sought to demonstrate the ability to visualize ovarian cysts on prenatal MRI. Materials and methods: This retrospective study included 17 fetal MRI scans from 16 female fetuses (23-37 gestational weeks) with an MRI diagnosis of ovarian cysts after suspicious US findings. A multiplanar MRI protocol was applied to image and to characterize the cysts. The US and MRI findings were compared, and the prenatal findings were compared with postnatal imaging findings or histopathology. Results: Simple ovarian cysts were found in 10/16 cases and complex cysts in 7/16 cases, including one case with both. In 11/16 (69%) cases, US and MRI diagnoses were in agreement, and, in 5/16 (31%) cases, MRI specified or expanded the US diagnosis. In 6/16 cases, postnatal US showed that the cysts spontaneously resolved or decreased in size, and in 1/16 cases, postnatal imaging confirmed a hemorrhagic cyst. In 4/16 cases, the prenatal diagnoses were confirmed by surgery/histopathology, and for the rest, postnatal correlation was not available. Conclusion: Our results illustrate the MRI visualization of ovarian cysts in utero. In most cases, MRI will confirm the US diagnosis. In certain cases, MRI may provide further diagnostic information, additional to US, which is the standard technique for diagnosis, monitoring, and treatment planning.

  6. Diagnóstico Prenatal

    OpenAIRE

    2010-01-01

    Diagnóstico Prenatal/ propósitos del diagnóstico prenatal/ Tamizaje a partir del Control Prenatal/ Pacientes de bajo riesgo/ Tamizaje bioquímico/ Pacientes de alto riesgo/ Pruebas invasivas y no invasivas

  7. Constructive Technology Assessment (CTA) as a tool in coverage with evidence development: the case of the 70-gene prognosis signature for breast cancer diagnostics

    NARCIS (Netherlands)

    Retèl, Valesca P.; Bueno-de-Mesquita, Jolien M.; Hummel, Marjan J.M.; Vijver, van de Marc J.; Douma, Kirsten F.L.; Karsenberg, Kim; Dam, van Frits S.A.M.; Krimpen, van Cees; Bellot, Frank E.; Roumen, Rudi M.H.; Linn, Sabine C.; Harten, van Wim H.

    2009-01-01

    Objectives: Constructive Technology Assessment (CTA) is a means to guide early implementation of new developments in society, and can be used as an evaluation tool for Coverage with Evidence Development (CED). We used CTA for the introduction of a new diagnostic test in the Netherlands, the 70-gene

  8. Re-appraisal of old and new diagnostic tools in the current management of chronic hepatitis B.

    Science.gov (United States)

    Bessone, Fernando

    2014-08-01

    Hepatitis B virus (HBV) is a very complex and intricate DNA structure associated with a particular genomic organization and replication cycle. However, many years of investigations allowed clarification of the real HBV natural history, through a deeper knowledge of the behavior of HBV antigens and viral structures. Several of the old diagnostic tools, such as HBV surface antigen (HBsAg) and HBV e antigen (HBeAg) determinations, gained prominence now, since the variation of both HBsAg and HBeAg plasma levels was shown to predict treatment response. In addition, the availability of more sensitive methods, such as HBV DNA detection by real-time PCR, has improved the current knowledge of the relationships between HBV replication levels and the natural history of the disease. It is now well established that some HBV genotypes are associated with a better response to treatment with pegylated interferon. Despite the widely accepted value of liver biopsy as a staging tool, transient elastography is being increasingly acknowledged as a non-invasive method to assess liver stiffness, chiefly for detection of advanced fibrosis. Current international guidelines for the management of chronic hepatitis B have provided several accurate biochemical and serological criteria for selecting patients for treatment, allowing a higher number of cases to be enrolled into antiviral therapy. This review describes the different serological markers used for the study of HBV and their clinical significance. It also deals with methods used for detection of genotypes and HBV DNA, emphasizing the effectiveness of such determinations for both patient selection and chronic hepatitis B therapy/monitoring.

  9. Hypersensitivity and desensitization to antineoplastic agents: outcomes of 189 procedures with a new short protocol and novel diagnostic tools assessment.

    Science.gov (United States)

    Madrigal-Burgaleta, R; Berges-Gimeno, M P; Angel-Pereira, D; Ferreiro-Monteagudo, R; Guillen-Ponce, C; Pueyo, C; Gomez de Salazar, E; Alvarez-Cuesta, E

    2013-07-01

    Desensitization to antineoplastic agents is becoming a standard of care. Efforts to establish and improve these techniques are being made at many institutions. Our aims are to evaluate a new rapid desensitization protocol designed to be shorter (approximately 4 h) and safer (reducing hazardous drugs exposure risks) and to assess the oxaliplatin-specific immunoglobulin E (IgE) as a novel diagnostic tool. Prospective, observational, longitudinal study with patients who, for a 1-year period, suffered reactions to antineoplastic agents and were referred to the Desensitization Program at Ramon y Cajal University Hospital (RCUH). Patients were included or excluded as desensitization candidates after anamnesis, skin testing, risk assessment, and graded challenge. Specific IgE was determined in oxaliplatin-reactive patients. Candidate patients were desensitized using the new RCUH rapid desensitization protocol. Of 189 intravenous rapid desensitizations, 188 were successfully accomplished in the 23 patients who met inclusion criteria for desensitization (of 58 referred patients). No breakthrough reactions occurred in 94% of desensitizations, and most breakthrough reactions were mild. In 10 oxaliplatin-reactive patients, 38 desensitizations were successfully accomplished. Sensitivity for oxaliplatin-specific IgE was 38% (0.35UI/l cutoff point) and 54% (0.10UI/l cutoff point); specificity was 100% for both cutoff points. In the hands of a Desensitization Program, managed by drug desensitization experts, this new protocol has proven an effective therapeutic tool for hypersensitivity to several antineoplastic agents (oxaliplatin, carboplatin, paclitaxel, docetaxel, cyclophosphamide, and rituximab); moreover, it improves safety handling of hazardous drugs. We report the first large series of oxaliplatin desensitizations. Oxaliplatin-specific IgE determination could be helpful. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  10. A potential new diagnostic tool to aid DNA analysis from heat compromised bone using colorimetry: A preliminary study.

    Science.gov (United States)

    Fredericks, Jamie D; Ringrose, Trevor J; Dicken, Anthony; Williams, Anna; Bennett, Phil

    2015-03-01

    Extracting viable DNA from many forensic sample types can be very challenging, as environmental conditions may be far from optimal with regard to DNA preservation. Consequently, skeletal tissue can often be an invaluable source of DNA. The bone matrix provides a hardened material that encapsulates DNA, acting as a barrier to environmental insults that would otherwise be detrimental to its integrity. However, like all forensic samples, DNA in bone can still become degraded in extreme conditions, such as intense heat. Extracting DNA from bone can be laborious and time-consuming. Thus, a lot of time and money can be wasted processing samples that do not ultimately yield viable DNA. We describe the use of colorimetry as a novel diagnostic tool that can assist DNA analysis from heat-treated bone. This study focuses on characterizing changes in the material and physical properties of heated bone, and their correlation with digitally measured color variation. The results demonstrate that the color of bone, which serves as an indicator of the chemical processes that have occurred, can be correlated with the success or failure of subsequent DNA amplification.

  11. Two-photon microscopes and in vivo multiphoton tomographs--powerful diagnostic tools for tissue engineering and drug delivery.

    Science.gov (United States)

    Schenke-Layland, Katja; Riemann, Iris; Damour, Odile; Stock, Ulrich A; König, Karsten

    2006-09-15

    Near-infrared multiphoton microscopes and in vivo femtosecond laser tomographs are novel powerful diagnostic tools for intra-tissue drug screening and high-resolution structural imaging applicable to many areas of biomedical research. Deep tissue cells and extracellular matrix (ECM) compartments can be visualized in situ with submicron resolution without the need for tissue processing. In particular, the reduced fluorescent coenzyme NAD(P)H, flavoproteins, keratin, melanin, and elastin are detected by two-photon excited autofluorescence, whereas myosin, tubulin and the ECM protein collagen can be imaged additionally by second harmonic generation (SHG). Therefore, these innovative multiphoton technologies have been used to probe architecture and state of a variety of native tissues, as well as of tissue-engineered constructs, giving insights on the interaction between scaffolds and seeded cells in vitro prior implantation. Moreover, non-invasive 4-D multiphoton tomographs are employed in clinical studies to examine the diffusion behavior, the intra-tissue accumulation of topically applied cosmetic and pharmaceutical components, and their interaction with skin cells.

  12. Diagnostic tool based on an HTLV-1-Tax expression system in eukaryotic cells using a poxvirus vector.

    Science.gov (United States)

    de Souza, Jaqueline Gontijo; Fonseca, Flávio Guimarães da; Martins-Filho, Olindo Assis; Teixeira-Carvalho, Andrea; Martins, Camila Pacheco Silveira; Carvalho, Luciana Debortoli; Coelho-Dos-Reis, Jordana Grazziela Alves; Barbosa-Stancioli, Edel Figueiredo

    2010-06-01

    Human T-lymphotropic virus 1 (HTLV-1) induces an immune-mediated inflammatory disease affecting the nervous system that eventually is accompanied by ocular, rheumatic and dermatologic manifestations (HTLV-1 associated myelopathy/tropical spastic paraparesis, or HAM/TSP). Proviral load and HTLV-1 protein expression, mainly of Tax, is correlated with disease progression and induction of host-virus equilibrium breakdown that, reportedly, involves the presence of Tax-specific cytotoxic T lymphocytes (CTL), T regulatory cells and anti-Tax antibodies. Based on knowledge of anti-Tax antibodies as markers of disease progression, the objectives of this study were both to design an infection/transfection system using the Vaccinia virus and a tax-encoding plasmid for the expression of Tax protein as well as to use this cell support to evaluate anti-Tax IgG by flow cytometry. The flow cytometry assay was standardized using pooled sera from each test group (negative, asymptomatic and HAM/TSP patients). The HAM/TSP group presented higher IgG anti-Tax reactivity (above 70%) than the asymptomatic group (nearly 40% reactivity). The data indicate that the infection/transfection system is useful for assessing Tax expression. This is a promising assay for use as a diagnostic tool to detect IgG anti-Tax and monitor HTLV-1 infected individuals.

  13. Auditory Brainstem Response Wave Amplitude Characteristics as a Diagnostic Tool in Children with Speech Delay with Unknown Causes

    Directory of Open Access Journals (Sweden)

    Susan Abadi

    2016-09-01

    Full Text Available Speech delay with an unknown cause is a problem among children. This diagnosis is the last differential diagnosis after observing normal findings in routine hearing tests. The present study was undertaken to determine whether auditory brainstem responses to click stimuli are different between normally developing children and children suffering from delayed speech with unknown causes. In this cross-sectional study, we compared click auditory brainstem responses between 261 children who were clinically diagnosed with delayed speech with unknown causes based on normal routine auditory test findings and neurological examinations and had >12 months of speech delay (case group and 261 age- and sex-matched normally developing children (control group. Our results indicated that the case group exhibited significantly higher wave amplitude responses to click stimuli (waves I, III, and V than did the control group (P=0.001. These amplitudes were significantly reduced after 1 year (P=0.001; however, they were still significantly higher than those of the control group (P=0.001. The significant differences were seen regardless of the age and the sex of the participants. There were no statistically significant differences between the 2 groups considering the latency of waves I, III, and V. In conclusion, the higher amplitudes of waves I, III, and V, which were observed in the auditory brainstem responses to click stimuli among the patients with speech delay with unknown causes, might be used as a diagnostic tool to track patients’ improvement after treatment.

  14. Fetal alcohol spectrum disorders and fetal alcohol syndrome: the state of the art and new diagnostic tools.

    Science.gov (United States)

    Memo, Luigi; Gnoato, Elisa; Caminiti, Stefania; Pichini, Simona; Tarani, Luigi

    2013-06-01

    Ethanol consumption during pregnancy is a widespread problem which is increasing in the generation of young women. Gestational alcohol consumption causes fetal exposure to this teratogen and is associated with the onset of fetal alcohol spectrum disorders (FASD) including fetal alcohol syndrome (FAS). FASD and FAS can lead to several physical, cognitive and behavioral disabilities, whose early diagnosis is of primary importance to perform primary prevention with total abstinence from alcohol during pregnancy and secondary prevention in newborns and children for a proper follow up to reduce risk of secondary consequences. In recent years significant efforts have been made to understand the underlying mechanisms of this disease and to identify objective biological and instrumental diagnostic tools, such as exposure biomarkers in neonatal meconium and advanced magnetic resonance imaging. Nonetheless, further studies are still needed to implement our knowledge on fetal effects of ethanol, and multidisciplinary actions are necessary to raise awareness among women of childbearing age about the danger of consuming even small amounts of ethanol during pregnancy.

  15. Dissociative symptoms and dissociative disorders comorbidity in obsessive compulsive disorder: Symptom screening, diagnostic tools and reflections on treatment.

    Science.gov (United States)

    Belli, Hasan

    2014-08-16

    Borderline personality disorder, conversion disorder and obsessive compulsive disorder frequently have dissociative symptoms. The literature has demonstrated that the level of dissociation might be correlated with the severity of obsessive compulsive disorder (OCD) and that those not responding to treatment had high dissociative symptoms. The structured clinical interview for DSM-IV dissociative disorders, dissociation questionnaire, somatoform dissociation questionnaire and dissociative experiences scale can be used for screening dissociative symptoms and detecting dissociative disorders in patients with OCD. However, a history of neglect and abuse during childhood is linked to a risk factor in the pathogenesis of dissociative psychopathology in adults. The childhood trauma questionnaire-53 and childhood trauma questionnaire-40 can be used for this purpose. Clinicians should not fail to notice the hidden dissociative symptoms and childhood traumatic experiences in OCD cases with severe symptoms that are resistant to treatment. Symptom screening and diagnostic tools used for this purpose should be known. Knowing how to treat these pathologies in patients who are diagnosed with OCD can be crucial.

  16. Copper as ancillary diagnostic tool in preoperative evaluation of possible papillary thyroid carcinoma in patients with benign thyroid disease.

    Science.gov (United States)

    Dragutinović, Vesna V; Tatić, Svetislav B; Nikolić-Mandić, Snežana D; Tripković, Tatjana M; Dunđerović, Duško M; Paunović, Ivan R

    2014-09-01

    Preoperative diagnosis of papillary thyroid carcinoma (PTC) comprises numerous diagnostic procedures which are mostly applicable in tertiary institutions. Normal thyroid function depends on the presence of many trace elements and copper (Cu) and zinc (Zn) are some of those. The study is based on retrospective review of 118 patients with preoperatively diagnosed benign thyroid disease (BTD) and 12 with PTC, who underwent thyroid surgery at the Center for Endocrine Surgery Clinical Center of Serbia, Belgrade, between 2010 and 2012. The objective was to evaluate concentrations of Cu and Zn in serum as possible prediction markers for PTC in patients who underwent surgery for preoperatively diagnosed BTD. Concentrations of Cu and Zn ions in serum were measured using atomic absorption spectrophotometer. Data were analyzed using methods of descriptive statistics, Anova and t-test (p papillary microcarcinoma-mPTC in 13 (11.0%) of BTD patients. The concentrations of Cu ions in serum of PTC patients as well as in serum of patients with mPTC were significantly higher than in serum of BTD patients (p thyroid surgery can be useful, easy available, and a low-cost tool in prediction of preoperatively undiagnosed PTC in patients with BTD.

  17. In vitro fertilization as a diagnostic and therapeutic tool in a patient with partial 17,20-desmolase deficiency.

    Science.gov (United States)

    Pellicer, A; Miró, F; Sampaio, M; Gómez, E; Bonilla-Musoles, F M

    1991-05-01

    To present a case with 17,20-desmolase activity deficiency in which in vitro fertilization (IVF) served not only as a therapeutic approach but also as a diagnostic tool for the specificity of the enzymatic deficiency. IVF in the patient under study compared with a control group. All women treated with pure follicle-stimulating hormone (FSH). IVF program at the Instituto Valenciano de Infertilidad. A patient with primary amenorrhea, who was the subject under study, and seven normally cycling control patients undergoing IVF in the same series. IVF, steroidogenesis in vitro of granulosa-luteal cell obtained at ovum pick-up. Oocyte fertilization and embryo cleavage. Serum and follicular fluid (FF) levels of estradiol (E2), progesterone (P), testosterone (T), androstendione (A), 17 alpha-hydroxyprogesterone (17-OHP). In vitro accumulation of E2 and P. Ovulation induction with FSH was successful in achieving follicular development despite low circulating E2. Fertilization and cleavage rates were similar to the control subjects. The patient developed ovarian hyperstimulation. The lack of 17,20-desmolase activity was detected by normal P levels in serum and FF, high 17-OHP, and low T, A, and E2 levels in serum and FF. Granulosaluteal cell cultures in the presence of T restored normal E2 and P production in response to gonadotropins. In patients with 17,20-desmolase deficiency, follicular development, oocyte maturation, and fertilization can take place in a low estrogenic environment.

  18. The Role of Epigenomics in the Study of Cancer Biomarkers and in the Development of Diagnostic Tools.

    Science.gov (United States)

    Verma, Mukesh

    2015-01-01

    Epigenetics plays a key role in cancer development. Genetics alone cannot explain sporadic cancer and cancer development in individuals with no family history or a weak family history of cancer. Epigenetics provides a mechanism to explain the development of cancer in such situations. Alterations in epigenetic profiling may provide important insights into the etiology and natural history of cancer. Because several epigenetic changes occur before histopathological changes, they can serve as biomarkers for cancer diagnosis and risk assessment. Many cancers may remain asymptomatic until relatively late stages; in managing the disease, efforts should be focused on early detection, accurate prediction of disease progression, and frequent monitoring. This chapter describes epigenetic biomarkers as they are expressed during cancer development and their potential use in cancer diagnosis and prognosis. Based on epigenomic information, biomarkers have been identified that may serve as diagnostic tools; some such biomarkers also may be useful in identifying individuals who will respond to therapy and survive longer. The importance of analytical and clinical validation of biomarkers is discussed, along with challenges and opportunities in this field.

  19. Metal Emission Lines as Diagnostic Tools for Shock Waves in Outer Atmospheres of M-type Mira Stars

    Science.gov (United States)

    Richter, He.; Sedlmayr, E.; Wood, P. R.

    One way to reveal the thermo- and hydrodynamical conditions in M-type Mira atmospheres is to study the various emission lines which are emitted behind a shock front and can be observed over a substantial portion of the pulsation period. Analysing a time-resolved series of these emission lines offers the possibility to determine these conditions in different atmospheric layers influenced by the passing shock wave. In particular, the metal emission lines are a diagnostic tool to probe the hydrodynamical conditions of the outer, dust-forming layers of the atmosphere, because they appear late in the pulsation cycle when the shock wave has reached these layers. We present quantitive data on radial velocities, shapes, widths and fluxes of metal emission lines obtained by spectral observations in the optical wavelength region for a sample of six M-type Miras (periods 281-389 days), namely R Aql, RR Sco, R Car, R Leo, S Scl and R Hya (cf. Richter & Wood 2001, A&A 369, 1027-1047). Because of the multiple phase coverage of our observations, the data shows the history of the shock as it emerges through the deep photosphere and then moves out through the atmosphere. The observations are analysed and discussed with regard to the atmospheric conditions.

  20. Quantum cascade laser based monitoring of CF2 radical concentration as a diagnostic tool of dielectric etching plasma processes

    Science.gov (United States)

    Hübner, M.; Lang, N.; Zimmermann, S.; Schulz, S. E.; Buchholtz, W.; Röpcke, J.; van Helden, J. H.

    2015-01-01

    Dielectric etching plasma processes for modern interlevel dielectrics become more and more complex by the introduction of new ultra low-k dielectrics. One challenge is the minimization of sidewall damage, while etching ultra low-k porous SiCOH by fluorocarbon plasmas. The optimization of this process requires a deeper understanding of the concentration of the CF2 radical, which acts as precursor in the polymerization of the etch sample surfaces. In an industrial dielectric etching plasma reactor, the CF2 radical was measured in situ using a continuous wave quantum cascade laser (cw-QCL) around 1106.2 cm-1. We measured Doppler-resolved ro-vibrational absorption lines and determined absolute densities using transitions in the ν3 fundamental band of CF2 with the aid of an improved simulation of the line strengths. We found that the CF2 radical concentration during the etching plasma process directly correlates to the layer structure of the etched wafer. Hence, this correlation can serve as a diagnostic tool of dielectric etching plasma processes. Applying QCL based absorption spectroscopy opens up the way for advanced process monitoring and etching controlling in semiconductor manufacturing.

  1. Major histocompatibility complex class I expression can be used as a diagnostic tool to differentiate idiopathic inflammatory myopathies from dystrophies

    Directory of Open Access Journals (Sweden)

    Sundaram C

    2008-01-01

    Full Text Available Aim: Utility of major histocompatibility complex (MHC Class I antigen immunostaining was studied to differentiate idiopathic inflammatory myopathies from dystrophies. Materials and Methods: Forty muscle biopsies including seven dermatomyositis (DM, six polymyositis (PM, two sporadic inclusion body myositis (sIBM, 20 dystrophies (one Duchenne, three Becker′s, four alpha, one gamma sarcoglycanopathy, nine limb girdle, one myotonic and one fascioscapulohumeral muscular dystrophy and five controls were stained with antibody for MHC Class I antigen (Novocastra clone W6/32 HL 1:100 dilution. Results: Polymyositis and sIBM showed MHC class I antigen positivity along sarcolemma of single and small groups of muscle fibers. The regenerating fibers in the perifascicular area in DM showed intense cytoplasmic positivity of MHC class I antigen. Muscle fibers in all dystrophies except regenerating fibers and control normal muscle were negative for MHC. Capillaries and lymphocytes were positive controls. There were no false positives in the study. Conclusion: MHC Class I immunostaining can be used as a complementary diagnostic tool for the diagnosis of idiopathic inflammatory myopathies.

  2. Spatial and temporal variability of soil water in drylands:plant water potential as a diagnostic tool

    Institute of Scientific and Technical Information of China (English)

    Maik VESTE; Markus STAUDINGER; Manfred K(U)PPERS

    2008-01-01

    Arid and semi-arid regions are characterized by low rainfall and high potential evaporative demand. Here, water is the major limiting factor for plant growth and productivity. Soil and surface hydrology properties (e.g. Field capacity, infiltration rates) effectively control the water re-distribution in the ecosystem, a fact that is aggravated in arid environments. Information of the spatial and temporal accessibility of soil water in desert ecosystems is limited. The purpose of the studies is the application of plant water potential to estimate the spatial and temporal variations of soil water availability in different arid ecosystems of the Negcv (Israel) and southern Morocco. As model plants the evergreen shrubs Retama raetam, Thymelaea kirsuta and trees (Acacia tortilis) were chosen. Seasonal and spatial variations of the pre-dawn water potential (ψpd) were examined as diagnostic tool to determine water availability on the landscape level. The seasonal differences in the pre-dawn water potential were less pronounced on the dune compared to the intcrdune. This showed a better water availability on the dune slope. Also in the investigated wadis systems spatial differences of the water potential could be detected and related to the vegetation pattern.

  3. Carbon isotope discrimination as a diagnostic tool for C4 photosynthesis in C3-C4 intermediate species.

    Science.gov (United States)

    Alonso-Cantabrana, Hugo; von Caemmerer, Susanne

    2016-05-01

    The presence and activity of the C4 cycle in C3-C4 intermediate species have proven difficult to analyze, especially when such activity is low. This study proposes a strategy to detect C4 activity and estimate its contribution to overall photosynthesis in intermediate plants, by using tunable diode laser absorption spectroscopy (TDLAS) coupled to gas exchange systems to simultaneously measure the CO2 responses of CO2 assimilation (A) and carbon isotope discrimination (Δ) under low O2 partial pressure. Mathematical models of C3-C4 photosynthesis and Δ are then fitted concurrently to both responses using the same set of constants. This strategy was applied to the intermediate species Flaveria floridana and F. brownii, and to F. pringlei and F. bidentis as C3 and C4 controls, respectively. Our results support the presence of a functional C4 cycle in F. floridana, that can fix 12-21% of carbon. In F. brownii, 75-100% of carbon is fixed via the C4 cycle, and the contribution of mesophyll Rubisco to overall carbon assimilation increases with CO2 partial pressure in both intermediate plants. Combined gas exchange and Δ measurement and modeling is a powerful diagnostic tool for C4 photosynthesis.

  4. Serum profiling by MALDI-TOF mass spectrometry as a diagnostic tool for domoic acid toxicosis in California sea lions

    Directory of Open Access Journals (Sweden)

    Neely Benjamin A

    2012-03-01

    Full Text Available Abstract Background There are currently no reliable markers of acute domoic acid toxicosis (DAT for California sea lions. We investigated whether patterns of serum peptides could diagnose acute DAT. Serum peptides were analyzed by MALDI-TOF mass spectrometry from 107 sea lions (acute DAT n = 34; non-DAT n = 73. Artificial neural networks (ANN were trained using MALDI-TOF data. Individual peaks and neural networks were qualified using an independent test set (n = 20. Results No single peak was a good classifier of acute DAT, and ANN models were the best predictors of acute DAT. Performance measures for a single median ANN were: sensitivity, 100%; specificity, 60%; positive predictive value, 71%; negative predictive value, 100%. When 101 ANNs were combined and allowed to vote for the outcome, the performance measures were: sensitivity, 30%; specificity, 100%; positive predictive value, 100%; negative predictive value, 59%. Conclusions These results suggest that MALDI-TOF peptide profiling and neural networks can perform either as a highly sensitive (100% negative predictive value or a highly specific (100% positive predictive value diagnostic tool for acute DAT. This also suggests that machine learning directed by populations of predictive models offer the ability to modulate the predictive effort into a specific type of error.

  5. Detection of ESAT-6 by a label free miniature immuno-electrochemical biosensor as a diagnostic tool for tuberculosis.

    Science.gov (United States)

    Diouani, Mohamed Fethi; Ouerghi, Oussama; Refai, Amira; Belgacem, Kamel; Tlili, Chaker; Laouini, Dhafer; Essafi, Makram

    2017-05-01

    Tuberculosis is a worldwide disease considered as a major health problem with high morbidity and mortality rates. Poor detection of Mycobacterium tuberculosis (Mtb), the causative agent of tuberculosis remains a major obstacle to the global control of this disease. Here we report the development of a new test based on the detection of the major virulent factor of Mtb, namely the early secreted antigenic target 6-kDa protein or ESAT-6. A label free electrochemical immunosensor using an anti-ESAT-6 monoclonal antibody as a bio-receptor is described herein. Anti-ESAT-6 antibodies were first covalently immobilized on the surface of a gold screen-printed electrode functionalized via a self-assembled thiol monolayer. Interaction between the bio-receptor and ESAT-6 antigen was evaluated by square wave voltammetry method using [Fe(CN)6](3-/4-) as redox probe. The detection limit of ESAT-6 antigen was 7ng/ml. The immunosensor has also been able to detect native ESAT-6 antigen secreted in cell culture filtrates of three pathogenic strains of Mtb (CDC1551, H37RV and H8N8). Overall, this work describes an immune-electrochemical biosensor, based on ESAT-6 antigen detection, as a useful diagnostic tool for tuberculosis. Copyright © 2016 Elsevier B.V. All rights reserved.

  6. STUDY OF ADENOSINE DEAMINASE AND LYMPHOCYTE/NEUTROPHIL RATIO IN COMBINATION AS DIAGNOSTIC TOOL FOR TUBERCULAR PLEURAL EFFUSION

    Directory of Open Access Journals (Sweden)

    Md. Faizur

    2015-10-01

    Full Text Available Adenosine deaminase, considered one of the key enzyme of purine metabolism, has been used in work up of lymphocytic pleural effusion. Low level of ADA 50IU/L specially when combined with Lymphocytic/neutrophil ratio >0.75 in pleural fluid is useful test in the diagnosis of tubercular pleurisy. AIM AND OBJECTIVE: To suggest a better diagnostic tool in the diagnosis of pleural effusion of tubercular origin by estimating the activity of ADA along with L/N ratio in pleural effusion. METHOD: Biochemical, cytological and microbiology studies were done by obtaining pleural fluid by thoracocentesis in 100 patients after excluding pleural effusion cases of malignancy, transudative effusion. RESULT: 84 cases were tubercular and had high level of ADA in comparison to rest of 16 non-tubercular cases. At level of 50 IU/L of ADA activity test had sensitivity of 97.6%, specificity 87.5%, positive predictive value 97.6%, negative predictive value 87.5%which increased to 100% and 92.8%, 98.6%, and 100% respectively in combination with test of Lymphocytic/Neutrophilic ratio >0.75. CONCLUSION: ADA level with L/N ratio can be important investigation in diagnosis of tubercular pleural effusion cases.

  7. Prenatal and newborn screening for hemoglobinopathies.

    Science.gov (United States)

    Hoppe, C C

    2013-06-01

    The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin and beta-globin genes. Increased immigration of high-risk populations has prompted the implementation of prenatal and newborn screening programs for hemoglobinopathies across Europe and North America. In Canada, the UK, and other European countries, prenatal screening to identify hemoglobinopathy carriers and offer prenatal diagnostic testing to couples at risk is linked to newborn screening, while in the United States, it is still not universally performed. The structure of screening programs, whether prenatal or postnatal, universal or selective, varies greatly among these countries and within the United States. The laboratory methods used to identify hemoglobinopathies are based on the prevalence of hemoglobinopathies within the population and the type of screening performed. Advances in molecular testing have facilitated the diagnosis of complex thalassemias and sickling disorders observed in ethnically diverse populations. This review summarizes the current approaches and methods used for carrier detection, prenatal diagnosis, and newborn screening.

  8. 基于LabVIEW的CAN总线UDS诊断工具开发%Development of CAN bus UDS diagnostic tool based on LabVIEW

    Institute of Scientific and Technical Information of China (English)

    游长能

    2016-01-01

    CAN总线是汽车上应用最广泛的通讯总线之一,在带CAN总线ECU的软硬件开发、产线测试、整车组装与调试过程中诊断协议是不可或缺的一种工具,通过诊断协议可以实现ECU的在线程序烧录、功能校准、内部错误和诊断码的读取和清除等功能.目前应用最广泛的诊断协议是UDS诊断协议.本文介绍了一种基于LabView的CAN总线UDS诊断工具开发.%CAN bus communication bus is one of the most widely used diagnostic protocol,assembled in hardware and software development,CAN bus ECU production line test,vehicle and debugging process is an indispensable tool, through the diagnostic protocol ECU can achieve the online program recording function, calibration, and internal error diagnosis codes read and clear functions.At present,the most widely used diagnostic protocol is UDS diagnostic protocol. In this paper, a LabView based CAN bus UDS diagnostic tool is introduced.

  9. Noninvasive prenatal molecular karyotyping from maternal plasma.

    Directory of Open Access Journals (Sweden)

    Stephanie C Y Yu

    Full Text Available Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex chromosomal aneuploidies noninvasively. Case reports describing the detection of fetal microdeletions from maternal plasma using massively parallel sequencing have been reported. However, these previous reports were either polymorphism-dependent or used statistical analyses which were confined to one or a small number of selected parts of the genome. In this report, we reported a procedure for performing noninvasive prenatal karyotyping at 3 Mb resolution across the whole genome through the massively parallel sequencing of maternal plasma DNA. This method has been used to analyze the plasma obtained from 6 cases. In three cases, fetal microdeletions have been detected successfully from maternal plasma. In two cases, fetal microduplications have been detected successfully from maternal plasma. In the remaining case, the plasma DNA sequencing result was consistent with the pregnant mother being a carrier of a microduplication. Simulation analyses were performed for determining the number of plasma DNA molecules that would need to be sequenced and aligned for enhancing the diagnostic resolution of noninvasive prenatal karyotyping to 2 Mb and 1 Mb. In conclusion, noninvasive prenatal molecular karyotyping from maternal plasma by massively parallel sequencing is feasible and would enhance the diagnostic spectrum of noninvasive prenatal testing.

  10. The IDEA Assessment Tool: Assessing the Reporting, Diagnostic Reasoning, and Decision-Making Skills Demonstrated in Medical Students' Hospital Admission Notes.

    Science.gov (United States)

    Baker, Elizabeth A; Ledford, Cynthia H; Fogg, Louis; Way, David P; Park, Yoon Soo

    2015-01-01

    Construct: Clinical skills are used in the care of patients, including reporting, diagnostic reasoning, and decision-making skills. Written comprehensive new patient admission notes (H&Ps) are a ubiquitous part of student education but are underutilized in the assessment of clinical skills. The interpretive summary, differential diagnosis, explanation of reasoning, and alternatives (IDEA) assessment tool was developed to assess students' clinical skills using written comprehensive new patient admission notes. The validity evidence for assessment of clinical skills using clinical documentation following authentic patient encounters has not been well documented. Diagnostic justification tools and postencounter notes are described in the literature (1,2) but are based on standardized patient encounters. To our knowledge, the IDEA assessment tool is the first published tool that uses medical students' H&Ps to rate students' clinical skills. The IDEA assessment tool is a 15-item instrument that asks evaluators to rate students' reporting, diagnostic reasoning, and decision-making skills based on medical students' new patient admission notes. This study presents validity evidence in support of the IDEA assessment tool using Messick's unified framework, including content (theoretical framework), response process (interrater reliability), internal structure (factor analysis and internal-consistency reliability), and relationship to other variables. Validity evidence is based on results from four studies conducted between 2010 and 2013. First, the factor analysis (2010, n = 216) yielded a three-factor solution, measuring patient story, IDEA, and completeness, with reliabilities of .79, .88, and .79, respectively. Second, an initial interrater reliability study (2010) involving two raters demonstrated fair to moderate consensus (κ = .21-.56, ρ =.42-.79). Third, a second interrater reliability study (2011) with 22 trained raters also demonstrated fair to moderate agreement

  11. Usefulness of Random Skin Biopsy as a Diagnostic Tool of Intravascular Lymphoma Presenting With Fever of Unknown Origin.

    Science.gov (United States)

    Pongpudpunth, Marinya; Rattanakaemakorn, Ploysyne; Fleischer, Alan B

    2015-09-01

    Intravascular B-cell lymphoma (IVBCL) is a rare type of extranodal lymphoma in which the lymphoma proliferates within vascular lumen. One of the most common presenting symptoms is prolonged fever. Although examination of a random skin biopsy from healthy-appearing skin in patients with suspected intravascular lymphoma has been reported to be useful, the sensitivity of this method for diagnosis is still unknown. To evaluate the usefulness of a random skin biopsy in the diagnosis of intravascular lymphoma in the patient presenting with fever of unknown origin. All cases that we performed random skin biopsy were retrospectively reviewed from March 2007 to June 2012 in Ramathibodi Hospital. The incisional biopsy technique was performed in 3 separate locations including 2 specimens from both upper thighs and 1 specimen from the abdomen. Of the 24 cases that were consulted to dermatologist for random skin biopsy, 3 cases (13%) were diagnosed of intravascular lymphoma and all presented with prolong fever, weight loss, and remarkable deterioration in Eastern Cooperative Oncology Group (ECOG) performance status (ECOG score) > 2. Interestingly, 2 cases (8%) were diagnosed with cytophagic histiocytic panniculitis from normal-appearing skin and subsequently investigated, which leads to the diagnosed of T-cell lymphoma. In an elderly patient with fever of unknown origin and/or weight loss with no evident of skin lesion, markedly elevated lactate dehydrogenase, remarkable deterioration in ECOG performance status who suspected IVBCL should be consider to perform incisional random skin biopsy at least 3 specimens from both thighs and abdomen to achieve a high sensitivity. We propose that this technique may serve as an important diagnostic tool to obtain the diagnosis of IVBCL. In summary, 5 of 24 (21%) positive results from random skin biopsy helped diagnoses of lymphoma.

  12. Circulating U2 small nuclear RNA fragments as a novel diagnostic tool for patients with epithelial ovarian cancer.

    Science.gov (United States)

    Kuhlmann, Jan Dominik; Baraniskin, Alexander; Hahn, Stephan A; Mosel, Frank; Bredemeier, Maren; Wimberger, Pauline; Kimmig, Rainer; Kasimir-Bauer, Sabine

    2014-01-01

    Ovarian cancer is the leading cause of death among malignancies in women. Despite advances in treatment, >50% of patients relapse. For disease monitoring, the identification of a blood-based biomarker would be of prime interest. In this regard, noncoding RNAs, such as microRNA (miRNA) or small nuclear RNA (snRNA), have been suggested as biomarkers for noninvasive cancer diagnosis. In the present study, we sought to identify differentially expressed miRNA/snRNA in sera of ovarian cancer patients and investigate their potential to aid in therapy monitoring. miRNA/snRNA abundance was investigated in serum (n = 10) by microarray analysis and validated in an extended serum set (n = 119) by reverse-transcription quantitative PCR. Abundance of U2-1 snRNA fragment (RNU2-1f) was significantly increased in sera of ovarian cancer patients (P < 0.0001) and paralleled International Federation of Gynecology and Obstetrics stage as well as residual tumor burden after surgery (P < 0.0001 and P = 0.011, respectively). Moreover, for patients with suboptimal debulking, preoperative RNU2-1f concentration was associated with radiographic response after chemotherapy and with platinum resistance (P = 0.0088 and P = 0.0015, respectively). Interestingly, according to the RNU2-1f abundance dynamics, persistent RNU2-1f positivity before surgery and after chemotherapy identified a subgroup of patients with high risk of recurrence and poor prognosis. This is the first report to suggest that a circulating snRNA can serve as an auxiliary diagnostic tool for monitoring tumor dynamics in ovarian cancer. Our results provide a rationale to further investigate whether this high-risk patient group may benefit from additional therapies that are directly applied after chemotherapy.

  13. Manganese-Enhanced Magnetic Resonance Imaging as a Diagnostic and Dispositional Tool after Mild-Moderate Blast Traumatic Brain Injury.

    Science.gov (United States)

    Rodriguez, Olga; Schaefer, Michele L; Wester, Brock; Lee, Yi-Chien; Boggs, Nathan; Conner, Howard A; Merkle, Andrew C; Fricke, Stanley T; Albanese, Chris; Koliatsos, Vassilis E

    2016-04-01

    Traumatic brain injury (TBI) caused by explosive munitions, known as blast TBI, is the signature injury in recent military conflicts in Iraq and Afghanistan. Diagnostic evaluation of TBI, including blast TBI, is based on clinical history, symptoms, and neuropsychological testing, all of which can result in misdiagnosis or underdiagnosis of this condition, particularly in the case of TBI of mild-to-moderate severity. Prognosis is currently determined by TBI severity, recurrence, and type of pathology, and also may be influenced by promptness of clinical intervention when more effective treatments become available. An important task is prevention of repetitive TBI, particularly when the patient is still symptomatic. For these reasons, the establishment of quantitative biological markers can serve to improve diagnosis and preventative or therapeutic management. In this study, we used a shock-tube model of blast TBI to determine whether manganese-enhanced magnetic resonance imaging (MEMRI) can serve as a tool to accurately and quantitatively diagnose mild-to-moderate blast TBI. Mice were subjected to a 30 psig blast and administered a single dose of MnCl2 intraperitoneally. Longitudinal T1-magnetic resonance imaging (MRI) performed at 6, 24, 48, and 72 h and at 14 and 28 days revealed a marked signal enhancement in the brain of mice exposed to blast, compared with sham controls, at nearly all time-points. Interestingly, when mice were protected with a polycarbonate body shield during blast exposure, the marked increase in contrast was prevented. We conclude that manganese uptake can serve as a quantitative biomarker for TBI and that MEMRI is a minimally-invasive quantitative approach that can aid in the accurate diagnosis and management of blast TBI. In addition, the prevention of the increased uptake of manganese by body protection strongly suggests that the exposure of an individual to blast risk could benefit from the design of improved body armor.

  14. IFN-γ release assay: a diagnostic assistance tool of tuberculin skin test in pediatric tuberculosis in China

    Institute of Scientific and Technical Information of China (English)

    SUN Lin; SHEN A-dong; YAN Hui-min; HU Ying-hui; JIAO Wei-wei; GU Yi; XIAO Jing; LI Hui-min; JIAO An-xia; GUO Ya-jie

    2010-01-01

    Background Prompt diagnosis of Mycobacterium tuberculosis (MTB) infection is an essential step in tuberculosis control and elimination. However, it is often difficult to accurately diagnose pediatric tuberculosis (TB). The tuberculin test (TST) may have a low specificity because of cross-reactivity with antigens present in Mycobacterium bovis bacillus Calmette-Guerin (BCG) and other mycobacteria, especially in China with a predominantly BCG-vaccinated population.Early-secreted antigenic target 6-kDa protein (ESAT-6) and culture filtrate protein 10 (CFP-10), stand out as suitable antigens that induce an interferon-gamma (IFN-γ) secreting, T-cell-mediated immune response to infection. While,considered the higher costs and complexity of the IFN-γ release assay (TSPOT), we aimed to evaluate the TSPOT and TST test in the clinical diagnosis of pediatric tuberculosis and to establish a diagnostic process suitable for China.Methods The sensitivity and specificity of the assay were evaluated in total seventy four children with active tuberculosis and fifty one nontuberculous children with other disease, and then the results were compared with TST.Logistic regression models were used to identify variables that were associated with positive results for each assay. The independent variables included sex, age, birth place, vaccination history, close contract with an active TB patient.Results The sensitivity of TSPOT was higher than TST in active TB children with or without BCG vaccination, as well as in children with culture-confirmed TB. But the difference was not significant statistically. Combining results of the TSPOT and TST improved the sensitivity to 94.6%. Agreement of the TST and TSPOT was low (77.0%, k=0.203) in active TB patients. The difference in specificity between TSPOT and TST test was statistically significant (94.1% vs.70.6%, P=0.006). Specificity of the two tests in patients without prior BCG vaccination history was similar (80.0% vs.60.0%). The concordance

  15. Investigation of the potential of optical coherence tomography (OCT) as a non-invasive diagnostic tool in reproductive medicine

    Science.gov (United States)

    Trottmann, Matthias; Homann, Christian; Leeb, R.; Doering, D.; Kuznetsova, J.; Reese, S.; Stief, C. G.; Koelle, S.; Sroka, R.

    2015-02-01

    Introduction and objective: In Europe, nearly every sixth couple in the reproductive age is involuntarily childless. In about 30%, both male and female reveal fertility problems. In about 10% of infertile men, azoospermia is the underlying cause. As conventional therapeutic options are limited, surgical testicular sperm extraction (TESE) is necessary to obtain sperms for assisted reproductive techniques. Regarding the females, up to 30% of all idiopathic infertilities are due to alterations of the uterine tube So far, no imaging technique, which does not require any labelling, is available to evaluate the male and female genital tract at a microscopic level under in vivo conditions. Thus, the aim of this study was to investigate the potential of optical coherence tomography (OCT) as a non-invasive diagnostic tool in gynaecology and andrology. Material and Methods: Tissues samples from the bovine testis, epididymis, vas deferens, ovary, oviduct (ampulla and isthmus) and uterus were obtained immediately after slaughter (14 cows aged 3 to 8 years and 14 bulls aged 3 to 6 years; breeds: Holstein- Friesian, and Deutsches Fleckvieh). Imaging was done by using the US Food and Drug Administration (FDA) approved probe-based Niris Imaging System (Imalux, Cleveland, Ohio, USA) and the Telesto 1325 nm OCT System and Ganymede 930 nm OCT System (Thorlabs Inc., Dachau, Germany). All images obtained were compared to histological images after paraffin embedding and HE staining. Results: OCT imaging visualized the microarchitecture of the testis, epididymis, spermatic duct and the ovary, oviduct and uterus. Using the Thorlabs systems a axial resolution of approx. 5μm and lateral resolution of 8- 15μm could be achieved. Different optical tissue volumes could be visualized, which depends on the optical penetration depth of the wavelength of the system used. While the tissue volume observed by probe based Imalux-OCT is similar to the used Thorlabs systems, the optical resolution is

  16. Prenatal screening and genetics

    DEFF Research Database (Denmark)

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

    2001-01-01

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

  17. WE-FG-207A-05: Dedicated Breast CT as a Diagnostic Imaging Tool: Physics and Clinical Feasibility.

    Science.gov (United States)

    Karellas, A

    2016-06-01

    Mammography-based screening has been a valuable imaging tool for the early detection of non-palpable lesions and has contributed to significant reduction in breast cancer associated mortality. However, the breast imaging community recognizes that mammography is not ideal, and in particular is inferior for women with dense breasts. Also, the 2-D projection of a 3-D organ results in tissue superposition contributing to false-positives. The sensitivity of mammography is breast-density dependent. Its sensitivity, especially in dense breasts, is low due to overlapping tissue and the fact that normal breast tissue, benign lesions and breast cancers all have similar "densities", making lesion detection more difficult. We ideally need 3-D imaging for imaging the 3-D breast. MRI is 3-D, whole breast ultrasound is 3-D, digital breast tomosynthesis is called 3-D but is really "pseudo 3-D" due to poor resolution along the depth-direction. Also, and importantly, we need to be able to administer intravenous contrast agents for optimal imaging, similar to other organ systems in the body. Dedicated breast CT allows for 3-D imaging of the uncompressed breast. In current designs, the patient is positioned prone on the table and the breast is pendant through an aperture and the scan takes approximately 10 seconds [O'Connell et al., AJR 195: 496-509, 2010]. Almost on the heels of the invention of CT itself, work began on the development of dedicated breast CT. These early breast CT systems were used in clinical trials and the results from comparative performance evaluation of breast CT and mammography for 1625 subjects were reported in 1980 [Chang et al., Cancer 46: 939-46, 1980]. However, the technological limitations at that time stymied clinical translation for decades. Subsequent to the landmark article in 2001 [Boone et al., Radiology 221: 657-67, 2001] that demonstrated the potential feasibility in terms of radiation dose, multiple research groups are actively investigating

  18. The clinical utility of non-invasive prenatal testing in pregnancies with ultrasound anomalies

    NARCIS (Netherlands)

    Beulen, Lean; Faas, Brigitte H W; Feenstra, Ilse; van Vugt, John M G; Bekker, Mireille N

    OBJECTIVE: This study aims to evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing for pregnancies with abnormal ultrasound findings. METHOD: A retrospective analysis was performed of 251 single and multiple pregnancies at high

  19. Clinical utility of non-invasive prenatal testing in pregnancies with ultrasound anomalies

    NARCIS (Netherlands)

    Beulen, L.; Faas, B.H.W.; Feenstra, I.; Vugt, J.M.G. van; Bekker, M.N.

    2017-01-01

    OBJECTIVE: To evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing in pregnancies with abnormal ultrasound findings. METHODS: This was a retrospective analysis of 251 singleton and multiple pregnancies at high risk for fetal

  20. Health behaviour modelling for prenatal diagnosis in Australia: a geodemographic framework for health service utilisation and policy development

    Directory of Open Access Journals (Sweden)

    Halliday Jane L

    2006-09-01

    Full Text Available Abstract Background Despite the wide availability of prenatal screening and diagnosis, a number of studies have reported no decrease in the rate of babies born with Down syndrome. The objective of this study was to investigate the geodemographic characteristics of women who have prenatal diagnosis in Victoria, Australia, by applying a novel consumer behaviour modelling technique in the analysis of health data. Methods A descriptive analysis of data on all prenatal diagnostic tests, births (1998 and 2002 and births of babies with Down syndrome (1998 to 2002 was undertaken using a Geographic Information System and socioeconomic lifestyle segmentation classifications. Results Most metropolitan women in Victoria have average or above State average levels of uptake of prenatal diagnosis. Inner city women residing in high socioeconomic lifestyle segments who have high rates of prenatal diagnosis spend 20% more on specialist physician's fees when compared to those whose rates are average. Rates of prenatal diagnosis are generally low amongst women in rural Victoria, with the lowest rates observed in farming districts. Reasons for this are likely to be a combination of lack of access to services (remoteness and individual opportunity (lack of transportation, low levels of support and income. However, there are additional reasons for low uptake rates in farming areas that could not be explained by the behaviour modelling. These may relate to women's attitudes and choices. Conclusion A lack of statewide geodemographic consistency in uptake of prenatal diagnosis implies that there is a need to target health professionals and pregnant women in specific areas to ensure there is increased equity of access to services and that all pregnant women can make informed choices that are best for them. Equally as important is appropriate health service provision for families of children with Down syndrome. Our findings show that these potential interventions are

  1. A national perspective on prenatal testing for mitochondrial disease.

    Science.gov (United States)

    Nesbitt, Victoria; Alston, Charlotte L; Blakely, Emma L; Fratter, Carl; Feeney, Catherine L; Poulton, Joanna; Brown, Garry K; Turnbull, Doug M; Taylor, Robert W; McFarland, Robert

    2014-11-01

    Mitochondrial diseases affect >1 in 7500 live births and may be due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). Genetic counselling for families with mitochondrial diseases, especially those due to mtDNA mutations, provides unique and difficult challenges particularly in relation to disease transmission and prevention. We have experienced an increasing demand for prenatal diagnostic testing from families affected by mitochondrial disease since we first offered this service in 2007. We review the diagnostic records of the 62 prenatal samples (17 mtDNA and 45 nDNA) analysed since 2007, the reasons for testing, mutation investigated and the clinical outcome. Our findings indicate that prenatal testing for mitochondrial disease is reliable and informative for the nuclear and selected mtDNA mutations we have tested. Where available, the results of mtDNA heteroplasmy analyses from other family members are helpful in interpreting the prenatal mtDNA test result. This is particularly important when the mutation is rare or the mtDNA heteroplasmy is observed at intermediate levels. At least 11 cases of mitochondrial disease were prevented following prenatal testing, 3 of which were mtDNA disease. On the basis of our results, we believe that prenatal testing for mitochondrial disease is an important option for couples where appropriate genetic analyses and pre/post-test counselling can be provided.

  2. Lichtheimia Infection in a Lymphoma Patient: Case Report and a Brief Review of the Available Diagnostic Tools.

    Science.gov (United States)

    Zimmerli, Stefan; Bialek, Ralf; Blau, Igor W; Christe, Andreas; Lass-Flörl, Cornelia; Presterl, Elisabeth

    2016-08-01

    We describe the case of a patient with a T-lymphoblastic lymphoma whose disseminated mucormycosis was diagnosed with delay, and we address the diagnostic and therapeutic decision-making process and review the diagnostic workup of patients with potential IFD. The diagnosis was delayed despite a suggestive radiological presentation of the patient's pulmonary lesion. The uncommon risk profile (T-lymphoblastic lymphoma, short neutropenic phases) wrongly led to a low level of suspicion. The diagnosis was also hampered by the lack of indirect markers for infections caused by Mucorales, the low sensitivity of both fungal culture and panfungal PCR, and the limited availability of species-specific PCR. A high level of suspicion of IFD is needed, and aggressive diagnostic procedures should be promptly initiated even in apparently low-risk patients with uncommon presentations. The extent of the analytical workup should be decided on a case-by-case base. Diagnostic tests such as the galactomannan and β-D-glucan test and/or PCR on biological material followed by sequencing should be chosen according to their availability and after evaluation of their specificity and sensitivity. In high-risk patients, preemptive therapy with a broad-spectrum mould-active antifungal agent should be started before definitive diagnostic findings become available.

  3. Optimized T1- and T2-weighted volumetric brain imaging as a diagnostic tool in very preterm neonates

    Energy Technology Data Exchange (ETDEWEB)

    Nossin-Manor, Revital [Neurosciences and Mental Health, Research Institute, Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto (Canada); Chung, Andrew D.; Morris, Drew; Thomas, Bejoy; Shroff, Manohar M. [The Hospital for Sick Children, Department of Diagnostic Imaging, Toronto (Canada); Soares-Fernandes, Joao P. [The Hospital for Sick Children, Department of Diagnostic Imaging, Toronto (Canada); Hospital de S. Marcos, Neuroradiology Department, Braga (Portugal); Cheng, Hai-Ling M. [The Hospital for Sick Children, Department of Diagnostic Imaging, Physiology Experimental Medicine, Research Institute, Toronto (Canada); University of Toronto, Medical Biophysics Department, Toronto (Canada); Whyte, Hilary E.A. [Neurosciences and Mental Health, Research Institute, Neonatology Department, The Hospital for Sick Children, Toronto (Canada); Taylor, Margot J. [The Hospital for Sick Children, Neurosciences and Mental Health, Research Institute, Department of Diagnostic Imaging, Toronto (Canada); University of Toronto, Medical Imaging, Toronto (Canada); Sled, John G. [University of Toronto, Physiology Experimental Medicine, Research Institute, The Hospital for Sick Children, Medical Biophysics, Toronto (Canada)

    2011-06-15

    T1- and T2-W MR sequences used for obtaining diagnostic information and morphometric measurements in the neonatal brain are frequently acquired using different imaging protocols. Optimizing one protocol for obtaining both kinds of information is valuable. To determine whether high-resolution T1- and T2-W volumetric sequences optimized for preterm brain imaging could provide both diagnostic and morphometric value. Thirty preterm neonates born between 24 and 32 weeks' gestational age were scanned during the first 2 weeks after birth. T1- and T2-W high-resolution sequences were optimized in terms of signal-to-noise ratio, contrast-to-noise ratio and scan time and compared to conventional spin-echo-based sequences. No differences were found between conventional and high-resolution T1-W sequences for diagnostic confidence, image quality and motion artifacts. A preference for conventional over high-resolution T2-W sequences for image quality was observed. High-resolution T1 images provided better delineation of thalamic myelination and the superior temporal sulcus. No differences were found for detection of myelination and sulcation using conventional and high-resolution T2-W images. High-resolution T1- and T2-W volumetric sequences can be used in clinical MRI in the very preterm brain to provide both diagnostic and morphometric information. (orig.)

  4. Two Consecutive Standardized Skin Surface Biopsies: An Improved Sampling Method to Evaluate Demodex Density as a Diagnostic Tool for Rosacea and Demodicosis.

    Science.gov (United States)

    Forton, Fabienne M N; De Maertelaer, Viviane

    2017-02-08

    Diagnosing papulopustular rosacea is not always straightforward; no specific diagnostic test is currently available. A high density of Demodex mites is consistently observed in this condition. This retrospective study assesses an improved method for evaluating Demodex density among 1,044 patients presenting to our dermatology practice. The skin was cleaned with ether and Demodex densities were measured in 2 consecutive standardized skin surface biopsies taken from the same site. Mean densities in patients with rosacea and demodicosis were much higher than those in healthy controls and patients with other facial dermatoses. The optimal cut-off values for the 2 biopsies were combined and the resultant criterion (presence of a first biopsy density rosacea or demodicosis with a sensitivity of 98.7% and specificity of 95.5%, making this a valuable diagnostic tool for dermatologists in routine clinical practice.

  5. Your First Prenatal Care Checkup

    Science.gov (United States)

    ... report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ... Last reviewed: May, 2011 Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ...

  6. Prenatal Care: Third Trimester Visits

    Science.gov (United States)

    Healthy Lifestyle Pregnancy week by week During the third trimester, prenatal care might include vaginal exams to check the baby's ... 2015 Original article: http://www.mayoclinic.org/healthy-lifestyle/pregnancy-week-by-week/in-depth/prenatal-care/art- ...

  7. Prenatal Care: Second Trimester Visits

    Science.gov (United States)

    Healthy Lifestyle Pregnancy week by week During the second trimester, prenatal care includes routine lab tests and measurements of your ... 2015 Original article: http://www.mayoclinic.org/healthy-lifestyle/pregnancy-week-by-week/in-depth/prenatal-care/art- ...

  8. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

    Science.gov (United States)

    Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne; Bianchi, Diana W; Bergmann, Carsten; Borry, Pascal; Chitty, Lyn S; Fellmann, Florence; Forzano, Francesca; Hall, Alison; Henneman, Lidewij; Howard, Heidi C; Lucassen, Anneke; Ormond, Kelly; Peterlin, Borut; Radojkovic, Dragica; Rogowski, Wolf; Soller, Maria; Tibben, Aad; Tranebjærg, Lisbeth; van El, Carla G; Cornel, Martina C

    2015-11-01

    -laboratory aspects such as information and counseling), education of professionals, systematic evaluation of all aspects of prenatal screening, development of better evaluation tools in the light of the aim of the practice, accountability to all stakeholders including children born from screened pregnancies and persons living with the conditions targeted in prenatal screening and promotion of equity of access.

  9. Meta-analysis diagnostic accuracy of SNP-based pathogenicity detection tools: a case of UTG1A1 gene mutations.

    Science.gov (United States)

    Galehdari, Hamid; Saki, Najmaldin; Mohammadi-Asl, Javad; Rahim, Fakher

    2013-01-01

    Crigler-Najjar syndrome (CNS) type I and type II are usually inherited as autosomal recessive conditions that result from mutations in the UGT1A1 gene. The main objective of the present review is to summarize results of all available evidence on the accuracy of SNP-based pathogenicity detection tools compared to published clinical result for the prediction of in nsSNPs that leads to disease using prediction performance method. A comprehensive search was performed to find all mutations related to CNS. Database searches included dbSNP, SNPdbe, HGMD, Swissvar, ensemble, and OMIM. All the mutation related to CNS was extracted. The pathogenicity prediction was done using SNP-based pathogenicity detection tools include SIFT, PHD-SNP, PolyPhen2, fathmm, Provean, and Mutpred. Overall, 59 different SNPs related to missense mutations in the UGT1A1 gene, were reviewed. Comparing the diagnostic OR, PolyPhen2 and Mutpred have the highest detection 4.983 (95% CI: 1.24 - 20.02) in both, following by SIFT (diagnostic OR: 3.25, 95% CI: 1.07 - 9.83). The highest MCC of SNP-based pathogenicity detection tools, was belong to SIFT (34.19%) followed by Provean, PolyPhen2, and Mutpred (29.99%, 29.89%, and 29.89%, respectively). Hence the highest SNP-based pathogenicity detection tools ACC, was fit to SIFT (62.71%) followed by PolyPhen2, and Mutpred (61.02%, in both). Our results suggest that some of the well-established SNP-based pathogenicity detection tools can appropriately reflect the role of a disease-associated SNP in both local and global structures.

  10. Infección prenatal

    OpenAIRE

    Pastor Durán, Xavier

    1986-01-01

    Protocolos terapeuticos. Infección prenatal. Riesgo de infección prenatal. La infección prenatal requiere un alto índice de sospecha, ya que no siempre, los antecedentes se hallan presentes bien porque faltan o bien porque hayan pasado desapercibidos. Dentro del concepto de infección prenatal se encuentran las englobadas en el acrónimo Torches (toxoplasmosis, rubeola, citomegalovirosis, herpes o sífilis) )...

  11. A Prenatal Case Report with Patau Syndrome

    Directory of Open Access Journals (Sweden)

    Mahmut Balkan

    2008-01-01

    Full Text Available In recent years, prenatal diagnosis and elective pregnancy termination have affected the reported birth prevalence of trisomies. Trisomy 13, or Patau syndrome, represents the third autosomic trisomy in order of frequency, after trisomy 21 (Down syndrome and trisomy 18 (Edwards syndrome, with a prevalence at birth estimated as between 1:12000 and 1:29000. In this study, we are presenting the results of cytogenetic analysis and clinic assessment in fetus of a woman at 22 weeks gestation, who were referred to our genetic diagnostic laboratory with abnormal triple test result, omphalosel and hydrocephaly. We performed the cordocentesis and pedigree analysis. We found a karyotype (47,XY,+13 in fetus. Because individuals of the family didn’t want, we were not followed the pregnancy prognosis for the mother and the fetus. We were recommending to the prenatal diagnosis for their further pregnancies.

  12. Transformation of theoretical-methodological approaches and methodical tools of the individual and territory welfare diagnostics. Part 1. From spreading to the alternative diagnostics approaches (background

    Directory of Open Access Journals (Sweden)

    Aleksandr Anatolyevich Kuklin

    2014-09-01

    Full Text Available This article presents an evolution of theoretical and methodological approaches to the welfare study. Existing theories of wellbeing are grouped according to accounted method of goods and resources distribution among society members. As a welfare future as a category we highlight objective (measured and subjective (estimated components. Based on the analysis of scientific literature we determine the ratio of individual and social welfare. The main differences between the categories of “ welfare” and “wealth” are given. The main difference consists in multidirectional changes of welfare and wealth for an increase (decrease in income of the individual (country. In this article we present an analysis of modern approaches to the definition of welfare: state, institutional and expendable approach. The welfare level estimation is complicated due to the need to consider the subjective component. The article provides an analysis of existing approaches to quantitative welfare evaluation ranging from the most common techniques (HDI, GDP to alternative techniques (Happy Planet Index.Methodological devices are structured by levels of welfare assessment objects (world, country, region, people. Based on the analysis of the advantages and disadvantages of methods we can conclude that the most reliable method is a comprehensive approach, which includes economic, environmental, social, vital and infrastructure indicators. The author’s approach to the formation of a complex methodological tool for individual and territory welfare estimation is presented in this article.

  13. Usefulness of gel filtration fraction as potential biomarker for neurocysticercosis in serum: towards a new diagnostic tool.

    Science.gov (United States)

    Nunes, D S; Gonzaga, H T; Ribeiro, V S; Cunha-Júnior, J P; Costa-Cruz, J M

    2016-10-17

    There is an increasing interest in improving neurocysticercosis (NCC) diagnosis through the search of new and alternative antigenic sources, as those obtained from heterologous antigens. The aim of this study was to obtain potential biomarkers for NCC diagnosis after gel filtration chromatography [gel filtration fraction (GFF)] from the total saline extract (SE) from Taenia saginata metacestodes, followed by protein identification and application in immunodiagnostic. SE and GFF proteic profiles were characterized in gel electrophoresis, and diagnostic performance was verified by testing 160 serum samples through enzyme-linked immunosorbent assay and immunoblotting. Sensitivity (Se), specificity (Sp) and other diagnostic parameters were calculated. Polypeptides of interest in the diagnosis of human NCC present at GFF were analysed by mass spectrometry (MS) and B-cell epitopes were predicted. GFF had the best diagnostic parameters: Se 93·3%; Sp 93%; AUC 0·990; LR+ = 13·42 and LR- = 0·07, and proved to be useful reacting with serum samples in immunoblotting. Proteic profile ranged from 64 to 68 kDa and enolase and calcium binding protein calreticulin precursor were identified after MS. The enolase and calcium-binding protein calreticulin precursor showed 18 and 10 predicted B-cell epitopes, respectively. In conclusion we identified important markers in the GFF with high efficiency to diagnose NCC.

  14. Prenatal detection of microtia by MRI in a fetus with trisomy 22

    Energy Technology Data Exchange (ETDEWEB)

    Milic, Andrea; Blaser, Susan; Robinson, Ashley [University of Toronto, Department of Diagnostic Imaging, Hospital for Sick Children, Toronto (Canada); Viero, Sandra; Halliday, William [University of Toronto, Laboratory Medicine and Pathobiology, Hospital for Sick Children, Toronto (Canada); Winsor, Elizabeth [University of Toronto, Department of Laboratory Medicine and Pathobiology, Mount Sinai Hospital, Toronto (Canada); Toi, Ants [University of Toronto, Department of Diagnostic Imaging, Mount Sinai Hospital, Toronto (Canada); Thomas, Micki [University of Toronto, The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Rm. 3292 Toronto, ON (Canada); Chitayat, David [University of Toronto, The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Rm. 3292 Toronto, ON (Canada); University of Toronto, Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto (Canada)

    2006-07-15

    Trisomy 22 is a rare chromosomal abnormality infrequently detected prenatally. External ear abnormalities, in particular microtia, are often associated with trisomy 22, but prenatal detection of microtia has not been reported in association with trisomy 22. We report a fetus with trisomy 22, with fetal MRI findings of microtia, craniofacial dysmorphism, and polygyria. Fetal MRI is a useful tool for auricular assessment and might have utility in the prenatal detection of chromosomal abnormalities, especially among fetuses with structural anomalies. (orig.)

  15. Prenatal diagnosis of congenital malformations in 500 pregnancies

    NARCIS (Netherlands)

    Leschot, N.J.; Treffers, P.E.; Verjaal, M.; Weduwen, J.J. der; Bennebroek Gravenhorst, J.; Coelingh Bennink, H.J.T.

    1979-01-01

    The organization, techniques used and diagnostic findings of 500 prenatal diagnoses are reported in detail. In 15 cases the pregnancy was terminated because of abnormal laboratory findings. Follow-up of the remaining pregnancies revealed a perinatal mortality of 1.7%, and the risk of an abortion ind

  16. Development of a nonsurgical diagnostic tool for endometriosis based on the detection of endometrial leukocyte subsets and serum CA-125 levels.

    Science.gov (United States)

    Gagné, Danièle; Rivard, Michèle; Pagé, Martin; Lépine, Manon; Platon, Christèle; Shazand, Kamran; Hugo, Patrice; Gosselin, Diane

    2003-10-01

    To determine whether the proportion of several leukocyte subsets is modulated in the endometrium of patients with endometriosis and, if yes, whether it can be used for diagnostic purposes. Case-control study. Eight clinical institutions of the Montreal area. Women who underwent laparoscopy or laparotomy between 1997 and 2001, who had regular menstrual cycles and were not under hormone treatment for the previous 3 months were selected. This study included 368 women, 173 with surgically confirmed endometriosis and 195 controls with no surgical evidence of endometriosis. Cytometry analysis was used to measure the proportion of several leukocyte subsets among CD45(+) endometrial cells. The proportion of CD3(+), CD16(+), CD3(-)HLADR(-), CD3(-)CD45RA(-), CD3(+)CD16(-), CD3(+)CD56(-), CD56(-)CD16(+), and CD16b(+) leukocytes was significantly altered in the endometrium of cases compared with controls. A multiple logistic regression model was adjusted with these endometrial leukocytes, serum CA-125 levels, risk factors, and confounders. The diagnostic performance of this predictive model was defined by a specificity of 95% and a sensitivity of 61%. Furthermore, the positive and negative predictive values were 91% and 75%, respectively. This predictive model represents a novel diagnostic tool to identify women with a high likelihood of suffering from endometriosis.

  17. [Usefulness of (18)FDG PET-CT scan as a diagnostic tool of fever of unknown origin].

    Science.gov (United States)

    García-Gómez, Francisco Javier; Acevedo-Báñez, Irene; Martínez-Castillo, Rubén; García-Gutiérrez, Manuel; Tirado-Hospital, Juan Luis; Borrego-Dorado, Isabel

    2015-07-20

    Classic fever of unknown origin (FUO) is defined as the presence of fever greater than 38.3°C of at least 3 weeks with an uncertain diagnosis. Identification of the etiology is crucial in guiding further diagnostic procedures and subsequent patient management. The aim of this study was to evaluate the role of fluorine-18 fluorodeoxyglucose ((18)F-FDG) positron emission tomography combined with computed tomography (PET/CT) in the diagnostic orientation of FUO. An observational retrospective study was performed, including 30 consecutive patients who had been studied between March 2010 and September 2013. Twenty-six out of 30 patients (86.67%) had a definitive diagnosis after pathologic confirmation in 15 cases, microbiological findings in one patient and clinical and radiological follow-up in 10 patients (mean: 16.38 months). Among the positive scans, malignancy (n=10), inflammatory (n=8), infectious (n=4) and miscellaneous causes (n=1) were identified. (18)F-FDG PET/CT had a diagnostic accuracy of 90.00%, sensitivity of 88.46% (95% confidence interval [95% CI] 76-101), specificity of 100.00% (95% CI 100-100), positive predictive values of 100.00% (95% CI100-100) and negative predictive value of 57.14% (95% CI 20-91). (18)F-FDG PET/CT provided useful for the etiologic diagnosis of FUO, with high sensitivity and specificity. (18)F-FDG PET/CT has an incremental morphological and functional value, especially indicating the best biopsy site. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  18. New bone post-processing tools in forensic imaging: a multi-reader feasibility study to evaluate detection time and diagnostic accuracy in rib fracture assessment.

    Science.gov (United States)

    Glemser, Philip A; Pfleiderer, Michael; Heger, Anna; Tremper, Jan; Krauskopf, Astrid; Schlemmer, Heinz-Peter; Yen, Kathrin; Simons, David

    2017-03-01

    The aim of this multi-reader feasibility study was to evaluate new post-processing CT imaging tools in rib fracture assessment of forensic cases by analyzing detection time and diagnostic accuracy. Thirty autopsy cases (20 with and 10 without rib fractures in autopsy) were randomly selected and included in this study. All cases received a native whole body CT scan prior to the autopsy procedure, which included dissection and careful evaluation of each rib. In addition to standard transverse sections (modality A), CT images were subjected to a reconstruction algorithm to compute axial labelling of the ribs (modality B) as well as "unfolding" visualizations of the rib cage (modality C, "eagle tool"). Three radiologists with different clinical and forensic experience who were blinded to autopsy results evaluated all cases in a random manner of modality and case. Rib fracture assessment of each reader was evaluated compared to autopsy and a CT consensus read as radiologic reference. A detailed evaluation of relevant test parameters revealed a better accordance to the CT consensus read as to the autopsy. Modality C was the significantly quickest rib fracture detection modality despite slightly reduced statistic test parameters compared to modalities A and B. Modern CT post-processing software is able to shorten reading time and to increase sensitivity and specificity compared to standard autopsy alone. The eagle tool as an easy to use tool is suited for an initial rib fracture screening prior to autopsy and can therefore be beneficial for forensic pathologists.

  19. [A New Diagnostic Tool for Apraxia in Patients with Right-Hemisphere Stroke: The Revised Cologne Apraxia Screening (KAS-R)].

    Science.gov (United States)

    Wirth, K; Held, A; Kalbe, E; Kessler, J; Saliger, J; Karbe, H; Fink, G R; Weiss, P H

    2016-10-01

    The Cologne Apraxia Screening (KAS) was developed to diagnose apraxia following left-hemisphere (LH) stroke. The present study aims at developing a diagnostic tool for patients with right-hemisphere (RH) stroke (KAS-R) by modifying the test material of the KAS and reducing the test items based on psychometric analyses.A total of 100 patients with RH stroke and 77 healthy control participants were tested. Psychometric analyses led to the exclusion of 8 KAS items. The final KAS-R, consisting of 12 items, shows good internal consistency (α = 0.795) as well as high sensitivity (79.4 %) and specificity (84.4 %). Applying a cut-off value of ≤ 46 (out of 48) points, 39 RH stroke patients were diagnosed with apraxia. Significant correlations were found between the KAS-R and an imitation test as well as expert ratings, indicating high construct validity. The results suggest that the KAS-R is a reliable and valid diagnostic tool for apraxic deficits after RH stroke. © Georg Thieme Verlag KG Stuttgart · New York.

  20. Stakeholder perspectives on the use of pig meat inspection as a health and welfare diagnostic tool in the Republic of Ireland and Northern Ireland; a SWOT analysis.

    Science.gov (United States)

    Devitt, C; Boyle, L; Teixeira, D L; O'Connell, N E; Hawe, M; Hanlon, A

    2016-01-01

    A SWOT (Strengths, Weaknesses, Opportunities and Threats) analysis is a strategic management tool applied to policy planning and decision-making. This short report presents the results of a SWOT analysis, carried out with n = 16 stakeholders i) involved in the pig industry in the Republic of Ireland and Northern Ireland, and ii) in general animal welfare and food safety policy areas. As part of a larger study called PIGWELFIND, the analysis sought to explore the potential development of pig meat inspection as an animal welfare and diagnostic tool. The final SWOT framework comprised two strengths, three opportunities, six weaknesses, and five threats. Issues around relationships and communication between producers and their veterinary practitioner, processors and producers were common to both the strengths and weakness clusters. Practical challenges within the processing plant were also named. Overall, the SWOT framework complements results reported in Devitt et al. (Ir Vet J 69:2, 2016) regarding problematic issues within the current system of information feedback on meat inspection especially within the Republic of Ireland, and the wider challenges of communication and problems of distrust. The results of the SWOT analysis support the conclusions from Devitt et al. (Ir Vet J 69:2, 2016), that trust between all stakeholders across the supply chain will be essential for the development of an effective environment in which to realise the full diagnostic potential of MI data. Further stakeholder engagement could seek to apply the findings of the SWOT analysis to a policy Delphi methodology, as used elsewhere.

  1. Prenatal screening and genetics

    NARCIS (Netherlands)

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

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

  2. Prenatal stress in pigs

    NARCIS (Netherlands)

    Kranendonk, Godelieve

    2006-01-01

    Studies in many species, including humans, have demonstrated that stress during gestation can have long-term developmental, neuroendocrine, and behavioural effects on the offspring. Because pregnant sows can be subjected to regular stressful situations, it is relevant to study whether prenatal stres

  3. Prenatal screening and genetics

    NARCIS (Netherlands)

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

    2001-01-01

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

  4. Prenatal stress in pigs

    NARCIS (Netherlands)

    Kranendonk, Godelieve

    2006-01-01

    Studies in many species, including humans, have demonstrated that stress during gestation can have long-term developmental, neuroendocrine, and behavioural effects on the offspring. Because pregnant sows can be subjected to regular stressful situations, it is relevant to study whether prenatal stres

  5. Prenatal screening and genetics

    DEFF Research Database (Denmark)

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

    2001-01-01

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

  6. Development of a Three-Tier Test as a Valid Diagnostic Tool for Identification of Misconceptions Related to Carbohydrates

    Science.gov (United States)

    Milenkovic, Dusica D.; Hrin, Tamara N.; Segedinac, Mirjana D.; Horvat, Sasa

    2016-01-01

    This study describes the development and application of a three-tier test as a valid and reliable tool in diagnosing students' misconceptions regarding some basic concepts about carbohydrates. The test was administrated to students of the Pharmacy Department at the University of Bijeljina (Serb Republic). The results denoted construct and content…

  7. Intelligent Information Retrieval: Diagnosing Information Need. Part II. Uncertainty Expansion in a Prototype of a Diagnostic IR Tool.

    Science.gov (United States)

    Cole, Charles; Cantero, Pablo; Sauve, Diane

    1998-01-01

    Outlines a prototype of an intelligent information-retrieval tool to facilitate information access for an undergraduate seeking information for a term paper. Topics include diagnosing the information need, Kuhlthau's information-search-process model, Shannon's mathematical theory of communication, and principles of uncertainty expansion and…

  8. Success Is an Open Book: Online Diagnostic Tools and Learning Outcomes in Introduction to American Government Courses

    Science.gov (United States)

    Reed, Ryan; Smith, Daniel E.

    2016-01-01

    This project examines the utility of a particular course enhancement, Cengage's Aplia, and more generally interactive tools designed to facilitate reading in the introductory American government course. Using two control and two treatment sections of the course (one section each for two instructors) during the Fall 2013 term, we measured student…

  9. Tuberculosis in elephants-a reemergent disease: diagnostic dilemmas, the natural history of infection, and new immunological tools.

    Science.gov (United States)

    Maslow, J N; Mikota, S K

    2015-05-01

    Tuberculosis (TB) in elephants has been described since ancient times. However, it was not until 1996 when infection with Mycobacterium tuberculosis was identified in a herd of circus elephants that significant research into this disease began. The epidemiology and natural history of TB were unknown in elephants since there had been no comprehensive screening programs, and diagnostic techniques developed for cervidae and bovidae were of unknown value. And, while precepts of test and slaughter were the norm for cattle and deer, this was considered untenable for an endangered species. With no precedent for the treatment of TB in animals, treatment regimens for elephants were extrapolated from human protocols, which guided changes to the Guidelines for the Control of Tuberculosis in Elephants. In the absence of diagnostic testing to confirm cure in elephants, the efficacy of these treatment regimens is only beginning to be understood as treated elephants die and are examined postmortem. However, because of pressures arising from public relations related to elephant husbandry and the added considerations of TB infection in animals (whether real or imagined), sharing of information to aid in research and treatment has been problematic. Here we review the challenges and successes of the diagnosis of tuberculosis in elephants and discuss the natural history of the disease to put the work of Landolfi et al on the immunological response to tuberculosis in elephants in perspective. © The Author(s) 2015.

  10. Flow Cytometry as a Diagnostic Tool in the Early Diagnosis of Aggressive Lymphomas Mimicking Life-Threatening Infection

    Directory of Open Access Journals (Sweden)

    Nikolaos J. Tsagarakis

    2011-01-01

    Full Text Available Aggressive lymphomas can present with symptoms mimicking life-threatening infection. Flow cytometry (FC is usually recommended for the classification and staging of lymphomas in patients with organomegaly and atypical cells in effusions and blood, after the exclusion of other possible diagnoses. FC may also have a place in the initial diagnostic investigation of aggressive lymphoma. Three cases are presented here of highly aggressive lymphomas in young adults, which presented with the clinical picture of fever of unknown origin (FUO in patients severely ill. All followed a life-threatening clinical course, and two developed the hemophagocytic syndrome (HPS, but microbiological, immunological, and morphological evaluation and immunohistochemistry (IHC failed to substantiate an early diagnosis. FC was the technique that provided conclusive diagnostic evidence of lymphoma, subsequently verified by IHC. Our experience with these three cases highlights the potential role of FC as an adjunct methodology in the initial assessment of possible highly aggressive lymphoma presenting with the signs and symptoms of life-threatening infection, although the definitive diagnosis should be established by biopsy. In such cases, FC can contribute to the diagnosis of lymphoma, independently of the presence of HPS.

  11. A user-friendly, open-source tool to project impact and cost of diagnostic tests for tuberculosis.

    Science.gov (United States)

    Dowdy, David W; Andrews, Jason R; Dodd, Peter J; Gilman, Robert H

    2014-06-04

    Most models of infectious diseases, including tuberculosis (TB), do not provide results customized to local conditions. We created a dynamic transmission model to project TB incidence, TB mortality, multidrug-resistant (MDR) TB prevalence, and incremental costs over 5 years after scale-up of nine alternative diagnostic strategies. A corresponding web-based interface allows users to specify local costs and epidemiology. In settings with little capacity for up-front investment, same-day microscopy had the greatest impact on TB incidence and became cost-saving within 5 years if delivered at $10/test. With greater initial investment, population-level scale-up of Xpert MTB/RIF or microcolony-based culture often averted 10 times more TB cases than narrowly-targeted strategies, at minimal incremental long-term cost. Xpert for smear-positive TB had reasonable impact on MDR-TB incidence, but at substantial price and little impact on overall TB incidence and mortality. This user-friendly modeling framework improves decision-makers' ability to evaluate the local impact of TB diagnostic strategies.

  12. The role of radiology in diagnosis and management of drug mules: an update with new challenges and new diagnostic tools.

    Science.gov (United States)

    Bulakci, Mesut; Cengel, Ferhat

    2016-01-01

    Emergency physicians and radiologists have been increasingly encountering internal concealment of illegal drugs. The packages commonly contain powdered solid drugs such as cocaine, heroin, methamphetamine and hashish, but they may also contain cocaine in the liquid form. The second type of package has recently been more commonly encountered, and poses a greater diagnostic challenge. As clinical evaluation and laboratory tests frequently fail to make the correct diagnosis, imaging examination is typically required. Imaging methods assume a vital role in the diagnosis, follow-up and management. Abdominal X-ray, ultrasonography, CT and MRI are used for the imaging purposes. Among the aforementioned methods, low-dose CT is state-of-the-art in these cases. It is of paramount importance that radiologists have a full knowledge of the imaging characteristics of these packages and accurately guide physicians and security officials.

  13. Diagnostic Tools for Performance Evaluation of Innovative In-Situ Remediation Technologies at Chlorinated Solvent-Contaminated Sites

    Science.gov (United States)

    2011-11-01

    Solvent-Contaminated Sites 5a. CONTRACT NUMBER 5b. GRANT NUMBER 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) 5d. PROJECT NUMBER 5e. TASK NUMBER 5f...reductase A vii MIPT Modified integral pumping test MLM system (General Purpose) Multi-level monitoring systems Mn Manganese MNA Monitored natural...Tool Recommendations Multi-Level Monitoring Systems Use MLM systems for vertical delineation of hydrogeologic properties and contaminant

  14. Indirect magnetic resonance arthrography of the shoulder; a reliable diagnostic tool for investigation of suspected labral pathology

    Energy Technology Data Exchange (ETDEWEB)

    Fallahi, Farshid [North Cumbria University Hospitals NHS Trust, Carlisle (United Kingdom); North Cumbria University Hospitals, Department of Radiology, Carlisle (United Kingdom); Green, Nick; Gadde, Sarat; Jeavons, Lisa; Armstrong, Patrick; Jonker, Leon [North Cumbria University Hospitals NHS Trust, Carlisle (United Kingdom)

    2013-09-15

    Indirect magnetic resonance arthrography (I-MRA) confers significant logistical advantages over direct MRA and does not require articular injection. In this study, we determined the diagnostic performance of I-MRA in relation to conventional MRI and arthroscopy or surgery in detecting tears of the glenoid labrum, including Bankart lesions and superior labral antero-posterior (SLAP) tears in a standard clinical setting. Ninety-one symptomatic patients underwent conventional MRI and I-MRA of the affected shoulder, followed by either arthroscopy or open surgery. The scans were interpreted independently by two experienced radiology consultants with a special interest in musculoskeletal radiology. Using the surgical findings as the standard of reference, sensitivity, specificity, and diagnostic accuracy of conventional non-contrast MRI and I-MRA in the detection of labral tears were calculated. The sensitivity of I-MRA was 95 and 97 %, respectively, for two radiologists as opposed to 79 and 83 % for conventional MRI. For both radiologists, the specificity of I-MRA, as well as MRI, was 91 % for detection of labral tears of all types. Accuracy of diagnosis was 93 and 95 %, respectively, for two radiologists with indirect MRA, compared to 84 and 86 % with non-contrast MRI. This retrospective study shows that I-MRA is a highly accurate and sensitive method for the detection of labral tears. The data obtained supports the use of I-MRA as standard practice in patients with shoulder instability due to suspected labral pathology where further investigative imaging is indicated. (orig.)

  15. Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening.

    Science.gov (United States)

    van Schendel, Rachèl V; Kleinveld, Johanna H; Dondorp, Wybo J; Pajkrt, Eva; Timmermans, Danielle R M; Holtkamp, Kim C A; Karsten, Margreet; Vlietstra, Anne L; Lachmeijer, Augusta M A; Henneman, Lidewij

    2014-12-01

    Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and men towards NIPT, and their views on widening the scope of prenatal testing in a country with a low uptake of prenatal screening (The Netherlands). Five focus groups with low-risk pregnant women (n=28), three focus groups with men (n=19) and 13 interviews with high- and low-risk pregnant women were conducted. Participants felt that current prenatal screening has great disadvantages such as uncertain results and risk of miscarriage from follow-up diagnostics. Characteristics of NIPT (accurate, safe and early testing) could therefore diminish these disadvantages of prenatal screening and help lower the barrier for participation. This suggests that NIPT might allow couples to decide about prenatal testing based mostly on their will to test or not, rather than largely based on fear of miscarriage risk or the uncertainty of results. The lower barrier for participation was also seen as a downside that could lead to uncritical use or pressure to test. Widening the scope of prenatal testing was seen as beneficial for severe disorders, although it was perceived difficult to determine where to draw the line. Participants argued that there should be a limit to the scope of NIPT, avoiding testing for minor abnormalities. The findings suggest that NIPT could enable more meaningful decision-making for prenatal screening. However, to ensure voluntary participation, especially when testing for multiple disorders, safeguards on the basis of informed decision-making will be of utmost importance.

  16. Review article: Diagnostic accuracy of risk stratification tools for patients with chest pain in the rural emergency department: A systematic review.

    Science.gov (United States)

    Roche, Tina; Jennings, Natasha; Clifford, Stuart; O'connell, Jane; Lutze, Matthew; Gosden, Edward; Hadden, N Fionna; Gardner, Glenn

    2016-10-01

    Risk stratification tools for patients presenting to rural EDs with undifferentiated chest pain enable early definitive treatment in high-risk patients. This systematic review compares the most commonly used risk stratification tools used to predict the risk of major adverse cardiac event (MACE) for patients presenting to rural EDs with chest pain. A comprehensive search of MEDLINE and Embase for studies published between January 2011 and January 2015 was undertaken. Study quality was assessed using QUADAS-2 criteria and the PRISMA guidelines.Eleven studies using eight risk stratification tools met the inclusion criteria. The percentage of MACE in the patients stratified as suitable for discharge, and the percentage of patients whose scores would have recommended admission that did not experience a MACE event were used as comparisons. Using the findings of a survey of emergency physicians that found a 1% MACE rate acceptable in discharged patients, the EDACS-ADP was considered the best performer. EDACS-ADP had one of the lowest rates of MACE in those discharged (3/1148, 0.3%) and discharged one of the highest percentage of patients (44.5%). Only the GRACE tool discharged more patients (69% - all patients with scores <100) but had a MACE rate of 0.3% in discharged patients. The HFA/CSANZ guidelines achieved zero cases of MACE but discharged only 1.3% of patients.EDACS-ADP can potentially increase diagnostic efficiency of patients presenting at ED with chest pain. Further assessment of tool in a rural context is recommended.

  17. Difficulties with Prenatal Diagnosis of the Walker-Warburg Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Low, A.S.C.; Lee, S.L.; Tan, A.S.A.; Chan, D.K.L.; Chan, L.L. [Singapore General Hospital (Singapore). Depts. of Diagnostic Radiology, Obstetrics and Gynecology and Neonatology

    2005-10-01

    We describe a postnatally diagnosed case of Walker-Warburg syndrome - a form of congenital muscular dystrophy with lissencephaly and eye abnormalities. We reviewed the literature to highlight its clinico-radiological diagnostic features and discuss the difficulties encountered with prenatal diagnosis, especially in cases with no positive family history. An increased awareness of this rare but lethal condition, and a high index of suspicion during routine antenatal ultrasound, could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling. Brain/brainstem, congenital, magnetic resonance imaging, obstetrics, pediatrics, ultrasound.

  18. The Diagnostic Value of Prenatal Ultrasound Screening for Complex Con-genital Cardiac Malformations During the Middle and Middle Pregnancy%中孕期胎儿产前超声筛查对复杂先天性心脏畸形的诊断价值探讨

    Institute of Scientific and Technical Information of China (English)

    李佳; 黄文英; 孙格格

    2015-01-01

    目的 分析妊娠中期胎儿行产前超声筛查对复杂先天性心脏畸形的临床诊断价值. 方法 整群选取该院2014年4月-2015年4月收治的5 800例妊娠中期的孕妇作为研究对象, 对其超声结果与产后的随访记录进行进一步分析. 结果共检出32例胎儿患有复杂先天性心脏畸形,检出率为0.55%.彩色多普勒超声诊断仪对单心房或单心室、大动脉转位、心内膜垫缺损、主动脉弓中断、永存动脉千、左心或右心发育不良、合并心外畸形、法洛四联征、左室横纹肌瘤和室间隔缺损进行筛查时,其检出率和随访记录差异无统计学意义;漏诊率为0.05%,漏诊的患儿分别为肺动脉狭窄、法洛四联征和室间隔缺损各1例. 结论 妊娠中期对胎儿进行产前超声筛查对其复杂先天性心脏畸形的临床诊断准确率较高,可降低复杂先天性心脏崎形胎儿出生率.%Objective To analyze the clinical diagnostic value of prenatal ultrasound screening for complex congenital cardiac mal-formations in the middle trimester of pregnancy. Methods In our hospital in April 2014 to 2015 April of 58 cases of prenatal ul-trasound screening in the second trimester pregnant women as the object of study and analysis of the ultrasonic imaging data and clinical data were retrospectively. The ultrasonic results and postpartum follow-up records for further analysis. Results 5 800 cases of pregnant women were checked out in 32 fetuses with complex congenital heart malformation, the detection rate was 0.55%. Col-or Doppler ultrasonic diagnostic apparatus of single atrial or ventricular, great artery transposition, endocardial cushion defect, aor-tic arch interruption, persistent truncus arteriosus thousand, left right heart or heart development adverse, with extra cardiac malfor-mations, tetralogy of Fallot, left ventricular rhabdomyoma and ventricular septal defect screening, by comparing the detection rate and follow-up record, the

  19. Gene transcription in sea otters (Enhydra lutris); development of a diagnostic tool for sea otter and ecosystem health

    Science.gov (United States)

    Bowen, Lizabeth; Miles, A. Keith; Murray, Michael; Haulena, Martin; Tuttle, Judy; van Bonn, William; Adams, Lance; Bodkin, James L.; Ballachey, Brenda; Estes, James A.; Tinker, M. Tim; Keister, Robin; Stott, Jeffrey L.

    2012-01-01

    Gene transcription analysis for diagnosing or monitoring wildlife health requires the ability to distinguish pathophysiological change from natural variation. Herein, we describe methodology for the development of quantitative real-time polymerase chain reaction (qPCR) assays to measure differential transcript levels of multiple immune function genes in the sea otter (Enhydra lutris); sea otter-specific qPCR primer sequences for the genes of interest are defined. We establish a ‘reference’ range of transcripts for each gene in a group of clinically healthy captive and free-ranging sea otters. The 10 genes of interest represent multiple physiological systems that play a role in immuno-modulation, inflammation, cell protection, tumour suppression, cellular stress response, xenobiotic metabolizing enzymes, antioxidant enzymes and cell–cell adhesion. The cycle threshold (CT) measures for most genes were normally distributed; the complement cytolysis inhibitor was the exception. The relative enumeration of multiple gene transcripts in simple peripheral blood samples expands the diagnostic capability currently available to assess the health of sea otters in situ and provides a better understanding of the state of their environment.

  20. Gene transcription in sea otters (Enhydra lutris); development of a diagnostic tool for sea otter and ecosystem health.

    Science.gov (United States)

    Bowen, Lizabeth; Miles, A Keith; Murray, Michael; Haulena, Martin; Tuttle, Judy; Van Bonn, William; Adams, Lance; Bodkin, James L; Ballachey, Brenda; Estes, James; Tinker, M Tim; Keister, Robin; Stott, Jeffrey L

    2012-01-01

    Gene transcription analysis for diagnosing or monitoring wildlife health requires the ability to distinguish pathophysiological change from natural variation. Herein, we describe methodology for the development of quantitative real-time polymerase chain reaction (qPCR) assays to measure differential transcript levels of multiple immune function genes in the sea otter (Enhydra lutris); sea otter-specific qPCR primer sequences for the genes of interest are defined. We establish a 'reference' range of transcripts for each gene in a group of clinically healthy captive and free-ranging sea otters. The 10 genes of interest represent multiple physiological systems that play a role in immuno-modulation, inflammation, cell protection, tumour suppression, cellular stress response, xenobiotic metabolizing enzymes, antioxidant enzymes and cell-cell adhesion. The cycle threshold (C(T)) measures for most genes were normally distributed; the complement cytolysis inhibitor was the exception. The relative enumeration of multiple gene transcripts in simple peripheral blood samples expands the diagnostic capability currently available to assess the health of sea otters in situ and provides a better understanding of the state of their environment.

  1. CLIPS: A tool for corn disease diagnostic system and an aid to neural network for automated knowledge acquisition

    Science.gov (United States)

    Wu, Cathy; Taylor, Pam; Whitson, George; Smith, Cathy

    1990-01-01

    This paper describes the building of a corn disease diagnostic expert system using CLIPS, and the development of a neural expert system using the fact representation method of CLIPS for automated knowledge acquisition. The CLIPS corn expert system diagnoses 21 diseases from 52 symptoms and signs with certainty factors. CLIPS has several unique features. It allows the facts in rules to be broken down to object-attribute-value (OAV) triples, allows rule-grouping, and fires rules based on pattern-matching. These features combined with the chained inference engine result to a natural user query system and speedy execution. In order to develop a method for automated knowledge acquisition, an Artificial Neural Expert System (ANES) is developed by a direct mapping from the CLIPS system. The ANES corn expert system uses the same OAV triples in the CLIPS system for its facts. The LHS and RHS facts of the CLIPS rules are mapped into the input and output layers of the ANES, respectively; and the inference engine of the rules is imbedded in the hidden layer. The fact representation by OAC triples gives a natural grouping of the rules. These features allow the ANES system to automate rule-generation, and make it efficient to execute and easy to expand for a large and complex domain.

  2. Diabetes epidemic in the Asia Pacific region: has hemoglobin A1C finally earned its place as a diagnostic tool?

    Directory of Open Access Journals (Sweden)

    Alexandra Bagley

    2014-02-01

    Full Text Available Two-third of the world's population lives in the Asia Pacific region where prevalence of diabetes has reached epidemic proportion. With China and India being the most populous nations on the globe, it is believed that over 150 million diabetes reside in the region with more than 95% being of type 2 diabetes mellitus (T2DM. Furthermore, other Pacific islands in the region have high rates of T2DM including Tonga, Fiji, French Polynesia, and Nauru. The latter has the highest prevalence of T2DM per population in the world. Over the past two decades, in Australia and New Zealand, the prevalence of T2DM has more than doubled, mainly amongst the Aboriginal and Torres Strait Islander and Maori peoples respectively. With the increasing prevalence of diabetes in the Asia Pacific region coupled with the limited number of resources, use of a reliable and effective mode of diagnosis for T2DM is warranted. Yet to date, only New Zealand has adopted the American Diabetes Association recommendation of using hemoglobin A1C in the diagnosis of the disease. The aim of this review is to discuss the clinical usefulness of hemoglobin A1C and highlight its diagnostic role in the Asia Pacific region where T2DM is increasingly encountered.

  3. Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.

    Science.gov (United States)

    Chen, Zhao; Wang, Jun-Ling; Tang, Bei-Sha; Sun, Zhan-Fang; Shi, Yu-Ting; Shen, Lu; Lei, Li-Fang; Wei, Xiao-Ming; Xiao, Jing-Jing; Hu, Zheng-Mao; Pan, Qian; Xia, Kun; Zhang, Qing-Yan; Dai, Mei-Zhi; Liu, Yu; Ashizawa, Tetsuo; Jiang, Hong

    2013-10-01

    Next-generation sequencing was used to investigate 9 rare Chinese pedigrees with rare autosomal recessive neurologic Mendelian disorders. Five probands with ataxia-telangectasia and 1 proband with chorea-acanthocytosis were analyzed by targeted gene sequencing. Whole-exome sequencing was used to investigate 3 affected individuals with Joubert syndrome, nemaline myopathy, or spastic ataxia Charlevoix-Saguenay type. A list of known and novel candidate variants was identified for each causative gene. All variants were genetically verified by Sanger sequencing or quantitative polymerase chain reaction with the strategy of disease segregation in related pedigrees and healthy controls. The advantages of using next-generation sequencing to diagnose rare autosomal recessive neurologic Mendelian disorders characterized by genetic and phenotypic heterogeneity are demonstrated. A genetic diagnostic strategy combining the use of targeted gene sequencing and whole-exome sequencing with the aid of next-generation sequencing platforms has shown great promise for improving the diagnosis of neurologic Mendelian disorders. Copyright © 2013 Elsevier Inc. All rights reserved.

  4. A review on epilepsy in the horse and the potential of Ambulatory EEG as a diagnostic tool.

    Science.gov (United States)

    van der Ree, Marleen; Wijnberg, Inge

    2012-01-01

    Epilepsy in the horse is diagnosed based on clinical signs, but diagnosing can be difficult if a grand mal is not present. The future prospects of the horse and potentially the safety of the owner depend on an accurate diagnosis. This review presents information on epilepsy and focuses on the diagnostic potential of (Ambulatory) electroencephalography ((A) EEG). An epileptic seizure is a brain disorder, which expresses itself as a recurrent episode of involuntary abnormal behaviour. The aetiology can originate from inside or outside the brain or is idiopathic. Besides those categories, seizures can be classified as generalised or partial. A typical generalised tonic-clonic seizure is characterised by the prodrome, the ictus and the post-ictal phase. EEG is the graphic recording of rhythmic bioelectric activity which originates predominantly from the cerebral cortex. In human medicine, the 10/20 international basis system for electrode placement is used. This makes comparison more reliable and consistent. The normal human brainwaves recorded are alpha, beta, theta and delta waves. In the horse, fewer descriptions of normal signals are available. In humans suffering from epilepsy, spikes, complexes, spike-and-wave discharges and rhythmical multi-spike activity are seen. In horses suffering from epilepsy, spikes, sharp waves and spike-and-wave discharges are seen. In humans, AEEG has numerous advantages above short-duration EEG in diagnosing epilepsy or intracranial pathology. In future, AEEG might be useful to record brain signals in awake horses expressing their behaviour under natural circumstances.

  5. Prenatal ultrasound and fetal MRI: The comparative value of each modality in prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Pugash, Denise [Department of Radiology, University of British Columbia, Vancouver (Canada)], E-mail: dpugash@cw.bc.ca; Brugger, Peter C. [Integrative Morphology Group, Centre of Anatomy and Cell Biology, Medical University of Vienna, Waehringerstrasse 13, 1090 Vienna (Austria); Bettelheim, Dieter [University Clinics of Obstetrics and Gynaecology, Medical University of Vienna, Waehringerguertel 18-20, 1090 Wien (Austria); Prayer, Daniela [University Clinics of Radiodiagnostics, Medical University of Vienna, Waehringerguertel 18-20, 1090 Wien (Austria)

    2008-11-15

    Fetal MRI is used with increasing frequency as an adjunct to ultrasound (US) in prenatal diagnosis. In this review, we discuss the relative value of both prenatal US and MRI in evaluating fetal and extra-fetal structures for a variety of clinical indications. Advantages and disadvantages of each imaging modality are addressed. In summary, MRI has advantages in demonstrating pathology of the brain, lungs, complex syndromes, and conditions associated with reduction of amniotic fluid. At present, US is the imaging method of choice during the first trimester, and in the diagnosis of cardiovascular abnormalities, as well as for screening. In some conditions, such as late gestational age, increased maternal body mass index, skeletal dysplasia, and metabolic disease, neither imaging method may provide sufficient diagnostic information.

  6. Prenatal testosterone and stuttering.

    Science.gov (United States)

    Montag, Christian; Bleek, Benjamin; Breuer, Svenja; Prüss, Holger; Richardt, Kirsten; Cook, Susanne; Yaruss, J Scott; Reuter, Martin

    2015-01-01

    The prevalence of stuttering is much higher in males compared to females. The biological underpinnings of this skewed sex-ratio is poorly understood, but it has often been speculated that sex hormones could play an important role. The present study investigated a potential link between prenatal testosterone and stuttering. Here, an indirect indicator of prenatal testosterone levels, the Digit Ratio (2D:4D) of the hand, was used. As numerous studies have shown, hands with more "male" characteristics (putatively representing greater prenatal testosterone levels) are characterized by a longer ring finger compared to the index finger (represented as a lower 2D:4D ratio) in the general population. We searched for differences in the 2D:4D ratios between 38 persons who stutter and 36 persons who do not stutter. In a second step, we investigated potential links between the 2D:4D ratio and the multifaceted symptomatology of stuttering, as measured by the Overall Assessment of the Speaker's Experience of Stuttering (OASES), in a larger sample of 44 adults who stutter. In the first step, no significant differences in the 2D:4D were observed between individuals who stutter and individuals who do not stutter. In the second step, 2D:4D correlated negatively with higher scores of the OASES (representing higher negative experiences due to stuttering), and this effect was more pronounced for female persons who stutter. The findings indicate for the first time that prenatal testosterone may influence individual differences in psychosocial impact of this speech disorder. Copyright © 2014 Elsevier Ltd. All rights reserved.

  7. Report of a case of primary breast lymphoma highlighting the importance of fine needle aspiration cytology as an initial diagnostic tool

    Directory of Open Access Journals (Sweden)

    Millu F Jain

    2015-01-01

    Full Text Available Primary non-Hodgkin lymphoma of breast is a rare pathology, representing 0.5% of malignant breast tumors. We report a case of 52 year old female presenting with a large painful mass in left breast with ipsilateral axillary lymph node diagnosed on fine needle aspiration cytology as non-Hodgkin′s lymphoma. Breast lymphoma should be differentiated from other breast malignancies because of the differences in their treatment modalities. When breast lymphoma presents as a lump with axillary node, it clinically mimics breast carcinoma. Ultrasonogram and mammogram shows no characteristic features that can distinguish it from other breast malignancy. In such cases, FNAC becomes an important diagnostic tool that can differentiate PBL from other breast malignancy and avoid unnecessary surgery.

  8. Measuring ultra-weak photon emission as a non-invasive diagnostic tool for detecting early-stage type 2 diabetes: A step toward personalized medicine.

    Science.gov (United States)

    Sun, Mengmeng; Van Wijk, Eduard; Koval, Slavik; Van Wijk, Roeland; He, Min; Wang, Mei; Hankemeier, Thomas; van der Greef, Jan

    2017-01-01

    The global prevalence of type 2 diabetes is estimated to reach 4.4% by 2030, placing a significant burden on our healthcare system. Therefore, the ability to identify patients in early stages of the disease is essential for both prevention and effective management, and diagnostic methods based on traditional Chinese medicine (TCM) may be suitable for identifying patients with early-stage type 2 diabetes. Here, a panel of three physicians trained in TCM classified 44 pre-diabetic subjects into three syndrome subtypes using TCM-based diagnostics. In addition, ultra-weak photon emission (UPE) was measured at four anatomical sites in each subject. Ten properties encompassing 40 parameters were then extracted from the UPE time series. Statistical analyses, including multinomial logistic regression, were performed using the results of each parameter measured at the four sites. Sixteen UPE parameters were then selected and used to discriminate between the three subtypes of pre-diabetic subjects. Next, Spearman's correlation coefficient was used to quantify the correlation between the 16 UPE parameters and the TCM-based diagnoses. The resulting correlation networks accurately reflected the differences between the three syndrome subtypes. These results suggest that UPE is a suitable tool for detecting subtypes in early-stage type 2 diabetes. In addition, our results provide evidence that TCM may represent an important step toward personalized medicine. Copyright © 2016 Elsevier B.V. All rights reserved.

  9. Pulse Waves in the Lower Extremities as a Diagnostic Tool of Peripheral Arterial Disease and Predictor of Mortality in Elderly Chinese.

    Science.gov (United States)

    Sheng, Chang-Sheng; Li, Yan; Huang, Qi-Fang; Kang, Yuan-Yuan; Li, Fei-Ka; Wang, Ji-Guang

    2016-03-01

    Patients with peripheral arterial disease may have elongated upstroke time in pulse waves in the lower extremities. We investigated upstroke time as a diagnostic tool of peripheral arterial disease and predictor of mortality in an elderly (≥60 years) Chinese population. We recorded pulse waves at the left and right ankles by pneumoplethysmography and calculated the percentage of upstroke time per cardiac cycle. Diagnostic accuracy was compared with the conventional ankle-brachial index method (n=4055) and computed tomographic angiography (34 lower extremities in 17 subjects). Upstroke time per cardiac cycle at baseline (mean±SD, 16.4%±3.1%) was significantly (Pperipheral arterial disease (upstroke time per cardiac cycle, ≥21.7%) in comparison with computed tomographic angiography. During 5.9 years (median) of follow-up, all-cause and cardiovascular deaths occurred in 366 and 183 subjects, respectively. In adjusted Cox regression analyses, an upstroke time per cardiac cycle ≥21.7% (n=219; 5.4%) significantly (Pperipheral arterial disease and predictor of mortality in the elderly.

  10. Ambulance smartphone tool for field triage of ruptured aortic aneurysms (FILTR): study protocol for a prospective observational validation of diagnostic accuracy.

    Science.gov (United States)

    Lewis, Thomas L; Fothergill, Rachael T; Karthikesalingam, Alan

    2016-10-24

    Rupture of an abdominal aortic aneurysm (rAAA) carries a considerable mortality rate and is often fatal. rAAA can be treated through open or endovascular surgical intervention and it is possible that more rapid access to definitive intervention might be a key aspect of improving mortality for rAAA. Diagnosis is not always straightforward with up to 42% of rAAA initially misdiagnosed, introducing potentially harmful delay. There is a need for an effective clinical decision support tool for accurate prehospital diagnosis and triage to enable transfer to an appropriate centre. Prospective multicentre observational study assessing the diagnostic accuracy of a prehospital smartphone triage tool for detection of rAAA. The study will be conducted across London in conjunction with London Ambulance Service (LAS). A logistic score predicting the risk of rAAA by assessing ten key parameters was developed and retrospectively validated through logistic regression analysis of ambulance records and Hospital Episode Statistics data for 2200 patients from 2005 to 2010. The triage tool is integrated into a secure mobile app for major smartphone platforms. Key parameters collected from the app will be retrospectively matched with final hospital discharge diagnosis for each patient encounter. The primary outcome is to assess the sensitivity, specificity and positive predictive value of the rAAA triage tool logistic score in prospective use as a mob app for prehospital ambulance clinicians. Data collection started in November 2014 and the study will recruit a minimum of 1150 non-consecutive patients over a time period of 2 years. Full ethical approval has been gained for this study. The results of this study will be disseminated in peer-reviewed publications, and international/national presentations. CPMS 16459; pre-results. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  11. Fluorescence In Situ Hybridization for MDM2 Amplification as a Routine Ancillary Diagnostic Tool for Suspected Well-Differentiated and Dedifferentiated Liposarcomas: Experience at a Tertiary Center

    Directory of Open Access Journals (Sweden)

    Khin Thway

    2015-01-01

    Full Text Available Background. The assessment of MDM2 gene amplification by fluorescence in situ hybridization (FISH has become a routine ancillary tool for diagnosing atypical lipomatous tumor (ALT/well-differentiated liposarcoma and dedifferentiated liposarcoma (WDL/DDL in specialist sarcoma units. We describe our experience of its utility at our tertiary institute. Methods. All routine histology samples in which MDM2 amplification was assessed with FISH over a 2-year period were included, and FISH results were correlated with clinical and histologic findings. Results. 365 samples from 347 patients had FISH for MDM2 gene amplification. 170 were positive (i.e., showed MDM2 gene amplification, 192 were negative, and 3 were technically unsatisfactory. There were 122 histologically benign cases showing a histology:FISH concordance rate of 92.6%, 142 WDL/DDL (concordance 96.5%, and 34 cases histologically equivocal for WDL (concordance 50%. Of 64 spindle cell/pleomorphic neoplasms (in which DDL was a differential diagnosis, 21.9% showed MDM2 amplification. Of the cases with discrepant histology and FISH, all but 3 had diagnoses amended following FISH results. For discrepancies of benign histology but positive FISH, lesions were on average larger, more frequently in “classical” (intra-abdominal or inguinal sites for WDL/DDL and more frequently core biopsies. Discrepancies of malignant histology but negative FISH were smaller, less frequently in “classical” sites but again more frequently core biopsies. Conclusions. FISH has a high correlation rate with histology for cases with firm histologic diagnoses of lipoma or WDL/DDL. It is a useful ancillary diagnostic tool in histologically equivocal cases, particularly in WDL lacking significant histologic atypia or DDL without corresponding WDL component, especially in larger tumors, those from intra-abdominal or inguinal sites or core biopsies. There is a significant group of well-differentiated adipocytic neoplasms

  12. [Fetal ocular anomalies: the advantages of prenatal magnetic resonance imaging].

    Science.gov (United States)

    Brémond-Gignac, D; Copin, H; Elmaleh, M; Milazzo, S

    2010-05-01

    Congenital ocular malformations are uncommon and require prenatal diagnosis. Severe anomalies are more often detected by trained teams and minor anomalies are more difficult to identify and must be systematically sought, particularly when multiple malformations or a family and maternal history is known. The prenatal diagnosis-imaging tool most commonly used is ultrasound but it can be completed by magnetic resonance imaging (MRI), which contributes crucial information. Fetal dysmorphism can occur in various types of dysfunction and prenatal diagnosis must recognize fetal ocular anomalies. After systematic morphologic ultrasound imaging, different abnormalities detected by MRI are studied. Classical parameters such as binocular and interorbital measurements are used to detect hypotelorism and hypertelorism. Prenatal ocular anomalies such as cataract microphthalmia, anophthalmia, and coloboma have been described. Fetal MRI added to prenatal sonography is essential in detecting cerebral and general anomalies and can give more information on the size and morphology of the eyeball. Fetal abnormality detection includes a detailed family and maternal history, an amniotic fluid sample for karyotype, and other analyses for a better understanding of the images. Each pregnancy must be discussed with all specialists for genetic counseling. With severe malformations, termination of pregnancy is proposed because of risk of blindness and associated cerebral or systemic anomalies. Early prenatal diagnosis of ocular malformations can also detect associated abnormalities, taking congenital cataracts that need surgical treatment into account as early as possible. Finally, various associated syndromes need a pediatric check-up that could lead to emergency treatment.

  13. Optical-fiber-coupled inferometric measurement of tympanic membrane temperature: a new diagnostic tool for acute otitis media

    Science.gov (United States)

    DeRowe, Ari; Ophir, Eyal; Sade, Sharon; Fishman, Gadi; Ophir, Dov; Grankin, Mila; Katzir, Abraham

    1998-07-01

    A novel infrared (IR) transparent optical fiber coupled to a hand held otoscope and a radiometer was constructed and used to measure the temperatures of the tympanic membrane (TM) and to distinguish between diseased and healthy middle ears. A greater temperature difference between TM readings was found when Acute Otitis Media (AOM) existed in one of the ears examined. This supports the hypothesis that acute inflammation of the middle ear will result in elevated local temperature when measured in such a way that the reading is taken only from the TM without interference of the external canal. The use of an optical fiber enabled temperature measurements of the TM with high spatial resolution eliminating the external ear canal interference. A small patient population was examined and the initial results were statistically significant. In the hands of the primary care physician, this tool would prevent misdiagnosis of AOM preventing indiscriminate use of antibiotics and avoiding complications by early diagnosis.

  14. Prenatal cytogenetic diagnosis study of 2782 cases of high-risk pregnant women

    Institute of Scientific and Technical Information of China (English)

    ZHANG Lin; ZHANG Xiao-hong; LIANG Mei-ying; REN Mei-hong

    2010-01-01

    Background Prenatal diagnoses are extremely advantageous for pregnant women with high-risk indicators and can help prevent the birth of malformed infants. However, no large-scale statistical study analyzing the correlation between fetal chromosome disorders and abnormal indicators during pregnancy has been done in China. The objectives of this study were to diagnose and analyze fetal chromosome abnormalities, determine the feasibility of the various prenatal test methods and establish diagnostic guidelines for the early, middle, and late trimesters.Methods From January 2004 to May 2009, 2782 pregnant women at high-risk underwent prenatal diagnoses. Categorized data expressed as either actual counts or percentages were analyzed by the chi-square or Fisher's exact test. Chorionic villus sampling was performed in the early-trimester (10-12 weeks of gestation), amniocentesis in mid-trimester (16-28 weeks of gestation), and umbilical cord blood collection in mid- or late-trimester (16-37 weeks of gestation). In 51 cases either autopsy samples from intrauterine fetal deaths or placental tissues from aborted fetuses were tested.Results Chromosomal abnormalities were observed in 3.99% (111/2782) of the samples. Overall, the success rate of cytogenetic analysis for high-risk pregnancy groups was 98.17% (2731/2782). It was significantly less successful when used to analyze data from the chorionic villus sampling compared with that from amniocentesis and umbilical cord blood (P=0.000). Abnormal chromosome carriers had the highest percentage of abnormal chromosomes (67.86%) when compared with chromosomal abnormalities in patients with ultra-sonographic "soft markers" (11.81%), advanced maternal age (4.51%) and those who had positive serum screening results (P=0.000).Conclusions Invasive prenatal diagnostic techniques are feasible tools for confirming fetal chromosomal abnormalities. Abnormal chromosomes detected in one of the parents carrying abnormal chromosome, ultrasound

  15. Painful knee joint after ACL reconstruction using biodegradable interference screws- SPECT/CT a valuable diagnostic tool? A case report

    Directory of Open Access Journals (Sweden)

    Hirschmann Michael T

    2010-09-01

    Full Text Available Abstract With the presented case we strive to introduce combined single photon emission computerized tomography and conventional computer tomography (SPECT/CT as new diagnostic imaging modality and illustrate the possible clinical value in patients after ACL reconstruction. We report the case of a painful knee due to a foreign body reaction and delayed degradation of the biodegradable interference screws after ACL reconstruction. The MRI showed an intact ACL graft, a possible tibial cyclops lesion and a patella infera. There was no increased fluid collection within the bone tunnels. The 99mTc-HDP-SPECT/CT clearly identified a highly increased tracer uptake around and within the tibial and femoral tunnels and the patellofemoral joint. On 3D-CT out of the SPECT/CT data the femoral graft attachment was shallow (50% along the Blumensaat's line and high in the notch. At revision arthroscopy a diffuse hypertrophy of the synovium, scarring of the Hoffa fat pad and a cyclops lesion of the former ACL graft was found. The interference screws were partially degraded and under palpation and pressure a grey fluid-like substance drained into the joint. The interference screws and the ACL graft were removed and an arthrolysis performed. In the case presented it was most likely a combination of improper graft placement, delayed degradation of the interference screws and unknown biological factors. The too shallow and high ACL graft placement might have led to roof impingement, chronic intraarticular inflammation and hence the delayed degradation of the screws. SPECT/CT has facilitated the establishment of diagnosis, process of decision making and further treatment in patients with knee pain after ACL reconstruction. From the combination of structural (tunnel position in 3D-CT and metabolic information (tracer uptake in SPECT/CT the patient's cause of the pain was established.

  16. Salmonella enterica serovar Typhi O:1,9,12 polysaccharide-protein conjugate as a diagnostic tool for typhoid fever.

    Science.gov (United States)

    Zuñiga, Jessica; Lillo, Luis; Shin, Junghee J; Machavarapu, Rajya L; Quiroga, Teresa; Goycoolea, Manuela; Matsuhiro, Betty; Aron-Hott, L; Godfrey, Henry P; Cabello, Felipe C

    2005-09-01

    Serologic tests play an important role in diagnosis of typhoid fever. In an effort to develop a more defined reagent for these tests, purified Salmonella enterica serovar Typhi (ST) O:1,9,12 polysaccharide was conjugated to human serum albumin (HSA), and the conjugate was purified chromatographically to yield a reagent with 2 moles ST O polysaccharide per mole HSA. In 40 patients with bacteriologically confirmed typhoid fever, significant dot immunobinding titers (> or =20,000) were present in 28 (70%) tested with 100 ng of ST O antigen-HSA (ST O-HSA) conjugate, in 38 (95%) tested with 100 ng of ST lipopolysaccharide, and in 16 (40%) tested with purified unconjugated ST O chains. In sera from 22 patients with other nontyphoid fevers, 2 (9.1%) had such reactivities with 100 ng of ST O-HSA, 1 (4.5%) had such reactivity with 100 ng of ST lipopolysaccharide (4.5%), and none reacted with 100 ng of unconjugated ST O chains. None of the 17 healthy-control sera reacted significantly with any of the ST reagents. None of the patient or control sera reacted with unconjugated HSA. The sensitivity of dot immunobinding for typhoid fever was 70% with 100 ng of ST O-HSA, somewhat lower than that with 100 ng of ST lipopolysaccharide (95%) but similar to that of the Widal H agglutination test with a > or =1/160 cutoff (74%). Specificities of these tests were 91%, 95%, and 86%, respectively. These preliminary results suggest that ST O polysaccharide-protein conjugates could provide a nontoxic, easily quality-controlled synthetic reagent for analysis of human immune responses to ST as well as for the development of new diagnostics and vaccines for typhoid fever.

  17. Expression signature as a biomarker for prenatal diagnosis of trisomy 21.

    Directory of Open Access Journals (Sweden)

    Marija Volk

    Full Text Available A universal biomarker panel with the potential to predict high-risk pregnancies or adverse pregnancy outcome does not exist. Transcriptome analysis is a powerful tool to capture differentially expressed genes (DEG, which can be used as biomarker-diagnostic-predictive tool for various conditions in prenatal setting. In search of biomarker set for predicting high-risk pregnancies, we performed global expression profiling to find DEG in Ts21. Subsequently, we performed targeted validation and diagnostic performance evaluation on a larger group of case and control samples. Initially, transcriptomic profiles of 10 cultivated amniocyte samples with Ts21 and 9 with normal euploid constitution were determined using expression microarrays. Datasets from Ts21 transcriptomic studies from GEO repository were incorporated. DEG were discovered using linear regression modelling and validated using RT-PCR quantification on an independent sample of 16 cases with Ts21 and 32 controls. The classification performance of Ts21 status based on expression profiling was performed using supervised machine learning algorithm and evaluated using a leave-one-out cross validation approach. Global gene expression profiling has revealed significant expression changes between normal and Ts21 samples, which in combination with data from previously performed Ts21 transcriptomic studies, were used to generate a multi-gene biomarker for Ts21, comprising of 9 gene expression profiles. In addition to biomarker's high performance in discriminating samples from global expression profiling, we were also able to show its discriminatory performance on a larger sample set 2, validated using RT-PCR experiment (AUC=0.97, while its performance on data from previously published studies reached discriminatory AUC values of 1.00. Our results show that transcriptomic changes might potentially be used to discriminate trisomy of chromosome 21 in the prenatal setting. As expressional alterations

  18. Congenital dacryocystocele: prenatal MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Yazici, Zeynep [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Uludag University, Department of Radiology, Faculty of Medicine, Bursa (Turkey); Kline-Fath, Beth M.; Rubio, Eva I.; Calvo-Garcia, Maria A.; Linam, Leann E. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Yazici, Bulent [Uludag University, Department of Ophthalmology, Faculty of Medicine, Bursa (Turkey)

    2010-12-15

    Congenital dacryocystocele can be diagnosed prenatally by imaging. Prenatal MRI is increasingly utilized for fetal diagnosis. To present the radiological and clinical features of seven fetuses with congenital dacryocystocele diagnosed with prenatal MRI. The institutional database of 1,028 consecutive prenatal MR examinations performed during a period of 4 years was reviewed retrospectively. The cases of congenital dacryocystocele were identified by reading the report of each MRI study. The incidence of dacryocystocele diagnosed with prenatal MRI was 0.7% (n=7/1,028). The dacryocystocele was bilateral in three fetuses. Mean gestational age at the time of diagnosis was 31 weeks. The indication for prenatal MRI was the presence or the suspicion of central nervous system abnormality in six fetuses and diaphragmatic hernia in one. Dacryocystocele was associated with an intranasal cyst in six of ten eyes. Prenatal sonography revealed dacryocystocele in only two of seven fetuses. Of eight eyes with postnatal follow-up, four did not have any lacrimal symptoms. Prenatal MRI can delineate congenital dacryocystocele more clearly and in a more detailed fashion than ultrasonography. Presence of dacryocystocele was symptomatic in only 50% of our patients, supporting that prenatal diagnosis of dacryocystocele might follow a benign course. (orig.)

  19. Prenatal diagnosis of cystic fibrosis: 10-years experience.

    Science.gov (United States)

    Hadj Fredj, S; Ouali, F; Siala, H; Bibi, A; Othmani, R; Dakhlaoui, B; Zouari, F; Messaoud, T

    2015-06-01

    We present in this study our 10years experience in prenatal diagnosis of cystic fibrosis performed in the Tunisian population. Based on family history, 40 Tunisian couples were selected for prenatal diagnosis. Fetal DNA was isolated from amniotic fluid collected by transabdominal amniocentesis or from chronic villi by transcervical chorionic villus sampling. The genetic analysis for cystic fibrosis mutations was performed by denaturant gradient gel electrophoresis and denaturing high-pressure liquid phase chromatography. We performed microsatellites analysis by capillary electrophoresis in order to verify the absence of maternal cell contamination. Thirteen fetuses were affected, 21 were heterozygous carriers and 15 were healthy with two normal alleles of CFTR gene. Ten couples opted for therapeutic abortion. The microsatellites genotyping showed the absence of contamination of the fetal DNA by maternal DNA in 93.75%. Our diagnostic strategy provides rapid and reliable prenatal diagnosis at risk families of cystic fibrosis. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  20. Physician liability and non-invasive prenatal testing.

    Science.gov (United States)

    Toews, Maeghan; Caulfield, Timothy

    2014-10-01

    Although non-invasive prenatal testing (NIPT) marks a notable development in the field of prenatal genetic testing, there are some physician liability considerations raised by this technology. As NIPT is still emerging as the standard of care and is just starting to receive provincial funding, the question arises of whether physicians are obligated to disclose the availability of NIPT to eligible patients as part of the physician-patient discussion about prenatal screening and diagnosis. If NIPT is discussed with patients, it is important to disclose the limitations of this technology with respect to its accuracy and the number of disorders that it can detect when compared with invasive diagnostic options. A failure to sufficiently disclose these limitations could leave patients with false assurances about the health of their fetuses and could raise informed consent and liability issues, particularly if a child is born with a disability as a result.

  1. Comparative Evaluation of Diagnostic Tools for Oxidative Deterioration of Polyunsaturated Fatty Acid-Enriched Infant Formulas during Storage

    Directory of Open Access Journals (Sweden)

    Caroline Siefarth

    2013-12-01

    Full Text Available The challenge in the development of infant formulas enriched with polyunsaturated fatty acids (PUFAs is to meet the consumers’ expectations with regard to high nutritional and sensory value. In particular, PUFAs may be prone to fatty acid oxidation that can generate potential rancid, metallic and/or fishy off-flavors. Although such off-flavors pose no health risk, they can nevertheless lead to rejection of products by consumers. Thus, monitoring autoxidation at its early stages is of great importance and finding a suitable analytical tool to perform these evaluations is therefore of high interest in quality monitoring. Two formulations of infant formulas were varied systematically in their mineral composition and their presence of antioxidants to produce 18 model formulas. All models were aged under controlled conditions and their oxidative deterioration was monitored. A quantitative study was performed on seven characteristic odor-active secondary oxidation products in the formulations via two-dimensional high resolution gas chromatography-mass spectrometry/olfactometry (2D-HRGC-MS/O. The sensitivity of the multi-dimensional GC-MS/O analysis was supported by two additional analytical tools for monitoring autoxidation, namely the analysis of lipid hydroperoxides and conjugated dienes. Furthermore, an aroma profile analysis (APA was performed to reveal the presence and intensities of typical odor qualities generated in the course of fatty acid oxidation. The photometrical analyses of lipid hydroperoxides and conjugated dienes were found to be too insensitive for early indication of the development of sensory defects. By comparison, the 2D-HRGC-MS/O was capable of monitoring peroxidation of PUFAs at low ppb-level in its early stages. Thereby, it was possible to screen oxidative variances on the basis of such volatile markers already within eight weeks after production of the products, which is an earlier indication of oxidative deterioration

  2. It's More Than a Blood Test: Patients' Perspectives on Noninvasive Prenatal Testing.

    Science.gov (United States)

    Farrell, Ruth M; Mercer, Mary Beth; Agatisa, Patricia K; Smith, Marissa B; Philipson, Elliot

    2014-06-19

    Noninvasive prenatal testing (NIPT) offers pregnant women a new risk assessment tool for fetal aneuploidy that is superior to conventional screening tests. We conducted focus groups with women who were currently pregnant or had recently delivered in the past year to characterize their perspectives about NIPT and to explore factors they would consider during decision making about its use. Women identified accuracy, early timing, testing ease, and determination of fetal sex as advantages of NIPT over other screens, and the noninvasive method of NIPT as an advantage over diagnostic tests. False positive and false negative results, anxiety, cost and insurance coverage were seen as disadvantages of NIPT. Women who do not want fetal aneuploidy information most likely will not undergo NIPT, despite its advantages over other screening tests. However, given its advantages, the decision to have NIPT is straightforward for women who want genetic information about the fetus. Women emphasized the need to make autonomous, private, and informed choices about NIPT, as they would with any prenatal genetic testing option. These perspectives may guide clinicians to conduct effective and clinically relevant counseling with pregnant women who consider utilizing this new genetic technology.

  3. It’s More Than a Blood Test: Patients’ Perspectives on Noninvasive Prenatal Testing

    Directory of Open Access Journals (Sweden)

    Ruth M. Farrell

    2014-06-01

    Full Text Available Noninvasive prenatal testing (NIPT offers pregnant women a new risk assessment tool for fetal aneuploidy that is superior to conventional screening tests. We conducted focus groups with women who were currently pregnant or had recently delivered in the past year to characterize their perspectives about NIPT and to explore factors they would consider during decision making about its use. Women identified accuracy, early timing, testing ease, and determination of fetal sex as advantages of NIPT over other screens, and the noninvasive method of NIPT as an advantage over diagnostic tests. False positive and false negative results, anxiety, cost and insurance coverage were seen as disadvantages of NIPT. Women who do not want fetal aneuploidy information most likely will not undergo NIPT, despite its advantages over other screening tests. However, given its advantages, the decision to have NIPT is straightforward for women who want genetic information about the fetus. Women emphasized the need to make autonomous, private, and informed choices about NIPT, as they would with any prenatal genetic testing option. These perspectives may guide clinicians to conduct effective and clinically relevant counseling with pregnant women who consider utilizing this new genetic technology.

  4. Quantitative Image Analysis of Epithelial and Stromal Area in Histological Sections of Colorectal Cancer: An Emerging Diagnostic Tool

    Directory of Open Access Journals (Sweden)

    R. Rogojanu

    2015-01-01

    Full Text Available In colorectal cancer (CRC, an increase in the stromal (S area with the reduction of the epithelial (E parts has been suggested as an indication of tumor progression. Therefore, an automated image method capable of discriminating E and S areas would allow an improved diagnosis. Immunofluorescence staining was performed on paraffin-embedded sections from colorectal tumors (16 samples from patients with liver metastasis and 18 without. Noncancerous tumor adjacent mucosa (n=5 and normal mucosa (n=4 were taken as controls. Epithelial cells were identified by an anti-keratin 8 (K8 antibody. Large tissue areas (5–63 mm2/slide including tumor center, tumor front, and adjacent mucosa were scanned using an automated microscopy system (TissueFAXS. With our newly developed algorithms, we showed that there is more K8-immunoreactive E in the tumor center than in tumor adjacent and normal mucosa. Comparing patients with and without metastasis, the E/S ratio decreased by 20% in the tumor center and by 40% at tumor front in metastatic samples. The reduction of E might be due to a more aggressive phenotype in metastasis patients. The novel software allowed a detailed morphometric analysis of cancer tissue compartments as tools for objective quantitative measurements, reduced analysis time, and increased reproducibility of the data.

  5. High-accuracy diagnostic tool for electron cloud observation in the LHC based on synchronous phase measurements

    CERN Document Server

    Esteban Müller, J F; Shaposhnikova, E; Valuch, D; Mastoridis, T

    2014-01-01

    Electron cloud effects such as heat load in the cryogenic system, pressure rise and beam instabilities are among the main limitations for the LHC operation with 25 ns spaced bunches. A new observation tool was developed to monitor the e-cloud activity and has been successfully used in the LHC during Run 1 (2010-2012). The power loss of each bunch due to the e-cloud can be estimated using very precise bunch-by-bunch measurement of the synchronous phase shift. In order to achieve the required accuracy, corrections for reflection in the cables and some systematic errors need to be applied followed by a post-processing of the measurements. Results clearly show the e-cloud build-up along the bunch trains and its evolution during each LHC fill as well as from fill to fill. Measurements during the 2012 LHC scrubbing run reveal a progressive reduction in the e-cloud activity and therefore a decrease in the secondary electron yield (SEY). The total beam power loss can be computed as a sum of the contributions from all...

  6. Fourier transform infrared microspectroscopy as a diagnostic tool for distinguishing between normal and malignant human gastric tissue

    Indian Academy of Sciences (India)

    Abasalt Hosseinzadeh Colagar; Mohammad Javad Chaichi; Tahereh Khadjvand

    2011-09-01

    Fourier transform infrared (FTIR) microspectroscopy can be considered to be a fast and non-invasive tool for distinguishing between normal and cancerous cells and tissues without the need for laborious and invasive sampling procedures. Gastric samples from four patients (age, 65±2 years) were analysed. Samples were obtained from the organs removed during gastrectomy and then classified as normal or cancerous. Classification was based on histopathological examinations at our institution. Formalin-fixed sections of gastric tissue were analysed by FTIR-microspectroscopy. To characterize differences between sections of normal and cancerous tissue, specific regions of the spectra were analysed to study variations in the levels of metabolites. To distinguish between two conditions (normal and cancerous), changes in the relative intensity of bands in the range 600–4000 cm−1 were analysed. A FTIR spectral map of the bands in the region 2800–3100 cm–1 and 900–1800 cm–1 were created to analyse pathological changes in tissues. The limited data available showed that normal gastric tissue had stronger absorption than cancerous tissue over a wide region in the four patients. There was a significant decrease in total biomolecular components for cancerous tissue compared with normal tissue.

  7. Feasibility study of the Fab fragment of a monoclonal antibody against tissue factor as a diagnostic tool.

    Science.gov (United States)

    Tsumura, Ryo; Sato, Ryuta; Furuya, Fumiaki; Koga, Yoshikatsu; Yamamoto, Yoshiyuki; Fujiwara, Yuki; Yasunaga, Masahiro; Matsumura, Yasuhiro

    2015-12-01

    Tissue factor (TF) is expressed strongly in various types of cancer, especially cancers that are often refractory to treatment, such as pancreatic cancer. In this study, we compared the differences in the biophysical and pharmacological properties of whole IgG and the Fab fragment of anti-human TF monoclonal antibody (1849 antibodies), in order to determine their suitability for application in the diagnosis and treatment of cancers. In the biophysical examination, we investigated the characteristics of 1849-whole IgG and 1849-Fab by SPR sensing and confocal fluorescence microscopy analysis using recombinant human TF antigen and TF-overexpressing human pancreatic cancer cell line, BxPC3, respectively. After conjugation with Alexa-Flour-647, in vivo imaging was conducted in mice bearing BxPC3 xenograft tumors. Furthermore, the distribution of the conjugates in tumors and major organs was evaluated by ex vivo study. The in vitro experiments showed that 1849 antibodies had high affinity against TF antigen. In addition, 1849-Fab showed a faster dissociation rate from the antigen than 1849-whole IgG. In mice, 1849-Fab-Alexa-Flour-647 showed rapid renal clearance and faster tumor accumulation, achieving a high contrast signal over nearby normal tissues in the early phase and enhanced tumor penetration after administration. On the other hand, 1849-whole IgG-Alexa-Flour-647 showed slow clearance from the blood and sustained high tumor accumulation. These results suggest that 1849-Fab may be a useful tool for pancreatic cancer diagnosis.

  8. How can we identify patients with delirium in the emergency department?: A review of available screening and diagnostic tools.

    Science.gov (United States)

    Tamune, Hidetaka; Yasugi, Daisuke

    2017-09-01

    Delirium is a widespread and serious but under-recognized problem. Increasing evidence argues that emergency health care providers need to assess the mental status of the patient as the "sixth vital sign". A simple, sensitive, time-efficient, and cost-effective tool is needed to identify delirium in patients in the emergency department (ED); however, a stand-alone measurement has not yet been established despite previous studies partly because the differential diagnosis of dementia and delirium superimposed on dementia (DSD) is too difficult to achieve using a single indicator. To fill up the gap, multiple aspects of a case should be assessed including inattention and arousal. For instance, we proposed the 100 countdown test as an effective means of detecting inattention. Further dedicated studies are warranted to shed light on the pathophysiology and better management of dementia, delirium and/or "altered mental status". We reviewed herein the clinical questions and controversies concerning delirium in an ED setting. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. High-accuracy diagnostic tool for electron cloud observation in the LHC based on synchronous phase measurements

    Science.gov (United States)

    Esteban Müller, J. F.; Baudrenghien, P.; Mastoridis, T.; Shaposhnikova, E.; Valuch, D.

    2015-11-01

    Electron cloud effects, which include heat load in the cryogenic system, pressure rise, and beam instabilities, are among the main intensity limitations for the LHC operation with 25 ns spaced bunches. A new observation tool was proposed and developed to monitor the e-cloud activity and it has already been used successfully during the LHC run 1 (2010-2012) and it is being intensively used in operation during the start of the LHC run 2 (2015-2018). It is based on the fact that the power loss of each bunch due to e-cloud can be estimated using bunch-by-bunch measurement of the synchronous phase. The measurements were done using the existing beam phase module of the low-level rf control system. In order to achieve the very high accuracy required, corrections for reflection in the cables and for systematic errors need to be applied followed by a post-processing of the measurements. Results clearly show the e-cloud buildup along the bunch trains and its time evolution during each LHC fill as well as from fill to fill. Measurements during the 2012 LHC scrubbing run reveal a progressive reduction in the e-cloud activity and therefore a decrease in the secondary electron yield. The total beam power loss can be computed as a sum of the contributions from all bunches and compared with the heat load deposited in the cryogenic system.

  10. Sensiprobe--a miniature thermal device incorporating Peltier technology as a diagnostic tool for studying human oesophageal sensitivity.

    Science.gov (United States)

    Reeves, J W; Al-Zinaty, M; Woodland, P; Sifrim, D; Aziz, Q; Birch, M J

    2014-07-01

    Heightened perception of gastrointestinal sensation is termed visceral hypersensitivity (VH) and is commonly observed in patients with gastrointestinal disorders. VH is thought to be a major contributory factor in oesophageal disease, particularly gastro-oesophageal reflux disease that does not respond to standard (proton pump inhibitor) treatment, and in functional heartburn. Clinical tools that can help phenotype according to the mechanism of chronic pain and thus allow targeted drug treatment (e.g. with pain modulator therapy) would be very desirable. A technique that produces repeatable and controllable thermal stimuli within the oesophagus could meet this need. The aims of this study were to develop a method for linear control of the heat stimulation in the oesophagus, to assess the reproducibility of this method, and obtain normal thermal sensitivity values in the distal and proximal oesophagus. The 7 mm diameter Peltier-based thermal device was investigated on 27 healthy subjects using a heating ramp of 0.2 °C s(-1). The pain detection threshold (PDT) temperature was recorded. To assess the reproducibility of the device, each subject underwent the procedure twice, with a minimum of two weeks between each procedure. The mean PDT temperature measured in the distal oesophagus, was 53.8 ± 2.9 °C and 53.6 ± 2.6 °C, for visits 1 and 2 respectively. The mean PDT temperature measured in the proximal oesophagus was 54.1 ± 2.4 °C and 54.0 ± 2.8 °C, for visits 1 and 2 respectively. The reproducibility of the PDT temperature in the distal and proximal oesophagus, was good (intra-class correlation >0.6). Future studies should be aimed to determine whether oesophageal thermal sensitivity can act as a biomarker of transient receptor potential vallanoid 1 upregulation.

  11. Severe hemiparesis as a prehospital tool to triage stroke severity: a pilot study to assess diagnostic accuracy and treatment times.

    Science.gov (United States)

    Gupta, Rishi; Manuel, Marissa; Owada, Kumiko; Dhungana, Samish; Busby, Leslie; Glenn, Brenda A; Brown, Debbie; Zimmermann, Susan A; Horn, Christopher; Rochestie, Dustin; Hormes, Joseph T; Johnson, Andrew K; Khaldi, Ahmad

    2016-08-01

    With the publication of the recent trials showing the tremendous benefits of mechanical thrombectomy, opportunities exist to refine prehospital processes to identify patients with larger stroke syndromes. We retrospectively reviewed consecutive patients who were brought via scene flight from rural parts of the region to our institution, from December 1, 2014 to June 5, 2015, with severe hemiparesis or hemiplegia. We assessed the accuracy of the diagnosis of stroke and the number of patients requiring endovascular therapy. Moreover, we reviewed the times along the pathway of patients who were treated with endovascular therapy. 45 patients were brought via helicopter from the field to our institution. 27 (60%) patients were diagnosed with an ischemic stroke. Of these, 12 (26.7%) were treated with mechanical thrombectomy and 6 (13.3%) with intravenous tissue plasminogen activator alone. An additional three patients required embolization procedures for either a dural arteriovenous fistula or cerebral aneurysm. Thus a total of 15 (33%) patients received an endovascular procedure and 21/45 (46.7%) received an acute treatment. For patients treated with thrombectomy, the median time from first medical contact to groin puncture was 101 min, with 8 of the 12 patients (66.7%) being discharged to home. We have presented a pilot study showing that severe hemiparesis or hemiplegia may be a reasonable prehospital tool in recognizing patients requiring endovascular treatment. Patients being identified earlier may be treated faster and potentially improve outcomes. Further prospective controlled studies are required to assess the impact on outcomes and cost effectiveness using this methodology. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  12. The modified ultrasound pattern sum score mUPSS as additional diagnostic tool for genetically distinct hereditary neuropathies.

    Science.gov (United States)

    Grimm, Alexander; Rasenack, Maria; Athanasopoulou, Ioanna M; Dammeier, Nele Maria; Lipski, Christina; Wolking, Stefan; Vittore, Debora; Décard, Bernhard F; Axer, Hubertus

    2016-02-01

    The objective of this study is to evaluate the nerve ultrasound characteristics in genetically distinct inherited neuropathies, the value of the modified ultrasound pattern sum score (mUPSS) to differentiate between the subtypes and the correlation of ultrasound with nerve conduction studies (NCS), disease duration and severity. All patients underwent a standardized neurological examination, ultrasound, and NCS. In addition, genetic testing was performed. Consequently, mUPSS was applied, which is a sum-score of cross-sectional areas (CSA) at predefined anatomical points in different nerves. 31 patients were included (10xCharcot-Marie-Tooth (CMT)1a, 3xCMT1b, 3xCMTX, 9xCMT2, 6xHNPP [Hereditary neuropathy with liability to pressure palsies]). Generalized, homogeneous nerve enlargement and significantly increased UPS scores emphasized the diagnosis of demyelinating neuropathy, particularly CMT1a and CMT1b. The amount of enlargement did not depend on disease duration, symptom severity, height and weight. In CMTX the nerves were enlarged, as well, however, only in the roots and lower limbs, most prominent in men. In CMT2 no significant enlargement was detectable. In HNPP the CSA values were increased at entrapped sites, and not elsewhere. However, a distinction from CMT1, which also showed enlarged CSA values at entrapment sites, was only possible by calculating the entrapment ratios and entrapment score. The mUPSS allowed distinction between CMT1a (increased UPS scores, entrapment ratios 1.4), while CMT1b and CMTX showed intermediate UPS types and entrapment ratios neuropathies. The modified UPSS is a quantitative tool, which may provide useful information for diagnosis, differentiation and follow-up evaluation in addition to NCS and molecular testing.

  13. Molecular diagnostic tools for detection and differentiation of phytoplasmas based on chaperonin-60 reveal differences in host plant infection patterns.

    Directory of Open Access Journals (Sweden)

    Tim J Dumonceaux

    Full Text Available Phytoplasmas ('Candidatus Phytoplasma' spp. are insect-vectored bacteria that infect a wide variety of plants, including many agriculturally important species. The infections can cause devastating yield losses by inducing morphological changes that dramatically alter inflorescence development. Detection of phytoplasma infection typically utilizes sequences located within the 16S-23S rRNA-encoding locus, and these sequences are necessary for strain identification by currently accepted standards for phytoplasma classification. However, these methods can generate PCR products >1400 bp that are less divergent in sequence than protein-encoding genes, limiting strain resolution in certain cases. We describe a method for accessing the chaperonin-60 (cpn60 gene sequence from a diverse array of 'Ca.Phytoplasma' spp. Two degenerate primer sets were designed based on the known sequence diversity of cpn60 from 'Ca.Phytoplasma' spp. and used to amplify cpn60 gene fragments from various reference samples and infected plant tissues. Forty three cpn60 sequences were thereby determined. The cpn60 PCR-gel electrophoresis method was highly sensitive compared to 16S-23S-targeted PCR-gel electrophoresis. The topology of a phylogenetic tree generated using cpn60 sequences was congruent with that reported for 16S rRNA-encoding genes. The cpn60 sequences were used to design a hybridization array using oligonucleotide-coupled fluorescent microspheres, providing rapid diagnosis and typing of phytoplasma infections. The oligonucleotide-coupled fluorescent microsphere assay revealed samples that were infected simultaneously with two subtypes of phytoplasma. These tools were applied to show that two host plants, Brassica napus and Camelina sativa, displayed different phytoplasma infection patterns.

  14. 产前超声筛查对妊娠中期胎儿复杂先天性心脏畸形的诊断价值%Diagnostic Value of Prenatal Ultrasound Screening on Fetuses with Complex Congenital Heart Malformation in Second Trimester of Pregnancy

    Institute of Scientific and Technical Information of China (English)

    夏曦; 周芬芳; 陈宏; 陈莉

    2014-01-01

    Objective To explore the diagnostic value of prenatal ultrasound screening on fetuses with complex con-genital heart malformation in second trimester of pregnancy. Methods From February 2012 to February 2014,the examination data of prenatal ultrasound screening of 9 300 pregnant women in second trimester of pregnancy in our hospital were retrospectively analyzed,the ultrasound findings and follow - up results were compared. Results The positive rate of complex congenital heart malformation was 0. 29% (27 / 9 300). There was no significant differences of detection rate of endocardial cushion defect, transposition of the great arteries,single atrium or ventricle,left or right heart dysplasia,persistent truncus arteriosus,inter-rupted aortic arch,left ventricular cardiac rhabdomyoma,Fallot's tetrad,outside heart malformations and ventricular septal de-fect between ultrasound findings and the fellow - up results(P > 0. 05). A total of 5 cases(0. 05% )got missed diagnosis,in-cluding one case of Fallot's tetrad,2 cases of pulmonary artery stenosis,2 cases of ventricular septal defect. Conclusion Pre-natal ultrasound screening has a higher accurate diagnosis rate on fetuses with complex congenital heart malformation in second tri-mester of pregnancy,is helpful in reducing the birth rate of fetuses with complex congenital heart malformation and to prenatal and postnatal care.%目的:探讨产前超声筛查对妊娠中期胎儿复杂先天性心脏畸形的诊断价值。方法回顾性分析2012年2月-2014年2月在我院进行产前超声筛查的9300例妊娠中期孕妇的超声检查资料,比较超声检查结果和产后随访结果。结果9300例孕妇共检出27例复杂先天性心脏畸形胎儿,检出率为0.29%。超声筛查对心内膜垫缺损、大动脉转位、单心房/单心室、左心/右心发育不良、永存动脉干、主动脉弓中断、左室横纹肌瘤、法洛四联征、合并心外畸形及室间隔缺损的检出率与随访结

  15. "Delirium Day": a nationwide point prevalence study of delirium in older hospitalized patients using an easy standardized diagnostic tool.

    Science.gov (United States)

    Bellelli, Giuseppe; Morandi, Alessandro; Di Santo, Simona G; Mazzone, Andrea; Cherubini, Antonio; Mossello, Enrico; Bo, Mario; Bianchetti, Angelo; Rozzini, Renzo; Zanetti, Ermellina; Musicco, Massimo; Ferrari, Alberto; Ferrara, Nicola; Trabucchi, Marco

    2016-07-18

    To date, delirium prevalence in adult acute hospital populations has been estimated generally from pooled findings of single-center studies and/or among specific patient populations. Furthermore, the number of participants in these studies has not exceeded a few hundred. To overcome these limitations, we have determined, in a multicenter study, the prevalence of delirium over a single day among a large population of patients admitted to acute and rehabilitation hospital wards in Italy. This is a point prevalence study (called "Delirium Day") including 1867 older patients (aged 65 years or more) across 108 acute and 12 rehabilitation wards in Italian hospitals. Delirium was assessed on the same day in all patients using the 4AT, a validated and briefly administered tool which does not require training. We also collected data regarding motoric subtypes of delirium, functional and nutritional status, dementia, comorbidity, medications, feeding tubes, peripheral venous and urinary catheters, and physical restraints. The mean sample age was 82.0 ± 7.5 years (58 % female). Overall, 429 patients (22.9 %) had delirium. Hypoactive was the commonest subtype (132/344 patients, 38.5 %), followed by mixed, hyperactive, and nonmotoric delirium. The prevalence was highest in Neurology (28.5 %) and Geriatrics (24.7 %), lowest in Rehabilitation (14.0 %), and intermediate in Orthopedic (20.6 %) and Internal Medicine wards (21.4 %). In a multivariable logistic regression, age (odds ratio [OR] 1.03, 95 % confidence interval [CI] 1.01-1.05), Activities of Daily Living dependence (OR 1.19, 95 % CI 1.12-1.27), dementia (OR 3.25, 95 % CI 2.41-4.38), malnutrition (OR 2.01, 95 % CI 1.29-3.14), and use of antipsychotics (OR 2.03, 95 % CI 1.45-2.82), feeding tubes (OR 2.51, 95 % CI 1.11-5.66), peripheral venous catheters (OR 1.41, 95 % CI 1.06-1.87), urinary catheters (OR 1.73, 95 % CI 1.30-2.29), and physical restraints (OR 1.84, 95 % CI 1.40-2.40) were associated with delirium. Admission

  16. The place of prenatal clases.

    Science.gov (United States)

    Enkin, M W

    1978-11-01

    The past 20 years has shown an exponential rise in both obstetrical intervention and family centred maternity care. Prenatal classes, although not as yet fully integrated into prenatal care, fill a vital role in teaching couples the information, skills, and attitudes required to participate actively in their reproductive care, and to recognize both their rights and their responsibilities.

  17. Maternal Plasma DNA and RNA Sequencing for Prenatal Testing.

    Science.gov (United States)

    Tamminga, Saskia; van Maarle, Merel; Henneman, Lidewij; Oudejans, Cees B M; Cornel, Martina C; Sistermans, Erik A

    2016-01-01

    Cell-free DNA (cfDNA) testing has recently become indispensable in diagnostic testing and screening. In the prenatal setting, this type of testing is often called noninvasive prenatal testing (NIPT). With a number of techniques, using either next-generation sequencing or single nucleotide polymorphism-based approaches, fetal cfDNA in maternal plasma can be analyzed to screen for rhesus D genotype, common chromosomal aneuploidies, and increasingly for testing other conditions, including monogenic disorders. With regard to screening for common aneuploidies, challenges arise when implementing NIPT in current prenatal settings. Depending on the method used (targeted or nontargeted), chromosomal anomalies other than trisomy 21, 18, or 13 can be detected, either of fetal or maternal origin, also referred to as unsolicited or incidental findings. For various biological reasons, there is a small chance of having either a false-positive or false-negative NIPT result, or no result, also referred to as a "no-call." Both pre- and posttest counseling for NIPT should include discussing potential discrepancies. Since NIPT remains a screening test, a positive NIPT result should be confirmed by invasive diagnostic testing (either by chorionic villus biopsy or by amniocentesis). As the scope of NIPT is widening, professional guidelines need to discuss the ethics of what to offer and how to offer. In this review, we discuss the current biochemical, clinical, and ethical challenges of cfDNA testing in the prenatal setting and its future perspectives including novel applications that target RNA instead of DNA.

  18. Noninvasive prenatal testing using cell-free fetal DNA in maternal plasma.

    Science.gov (United States)

    Dharajiya, Nilesh; Zwiefelhofer, Tricia; Guan, Xiaojun; Angkachatchai, Vach; Saldivar, Juan-Sebastian

    2015-01-20

    Noninvasive prenatal testing (NIPT) represents an outstanding example of how novel scientific discoveries can be quickly and successfully developed into hugely impactful clinical diagnostic tests. Since the introduction of NIPT to detect trisomy 21 in late 2011, the technology has rapidly advanced to analyze other autosomal and sex chromosome aneuploidies, and now includes the detection of subchromosomal deletion and duplication events. Here we provide a brief overview of how noninvasive prenatal testing using next-generation sequencing is performed.

  19. Prenatal ultrasound and magnetic resonance imaging depiction of a small sublingual ranula.

    Science.gov (United States)

    Tamaru, Shunsuke; Kikuchi, Akihiko; Ono, Kyoko; Kita, Mariko; Horikoshi, Tsuguhiro; Takagi, Kimiyo

    2010-01-01

    Prenatal diagnosis of a congenital ranula has rarely been reported. We describe the case of a small ranula depicted on prenatal sonogram and magnetic resonance imaging, in which we could confirm the intact airway. Although the size of the ranula noted in our fetus was the smallest among the cases reported in the English literature, both of these imaging modalities clearly presented typical diagnostic features present on both ultrasound and magnetic resonance imaging.

  20. 荧光原位杂交技术对无创DNA产前检测阳性病例的诊断价值%Prenatal diagnostic value of the fluorescence in situ hybridization in positive cases of noninvasive prenatal testing

    Institute of Scientific and Technical Information of China (English)

    张阳丽; 李荣; 赵纯全; 崔瑾; 詹茜; 白慧丽; 程伟; 张玉洪

    2016-01-01

    目的:探讨荧光原位杂交检测技术(fluorescence in situ hybridization,FISH)对无创DNA产前检测(noninvasive prenatal testing,NIPT)阳性病例的诊断价值.方法:对22例NIPT阳性病例的未培养羊水利用FISH技术进行胎儿13、18、21、X和Y染色体数目的检测,同时将所有病例的羊水或脐血细胞培养行常规染色体G显带染色体核型分析.应用Kappa检验比较FISH和染色体核型分析检测结果的一致性并进行分析.结果:22例样本FISH检测结果中,18例检测出胎儿染色体非整倍体异常,包括13-三体2例、21-三体11例、18-三体1例、XXY/XY嵌合型1例、XXY型1例、XXXXY型1例、XYY型1例,余下4例未发现染色体数目异常.FISH检测结果与染色体核型分析结果一致性极强(κ=1).结论:NIPT存在假阳性结果,阳性病例必须进行进一步产前诊断,FISH技术具有快速,简便,准确的技术特点,是快速确诊的有效手段.

  1. UNA HERRAMIENTA DE DIAGNÓSTICO PARA ENLACES DE SUSCRIPCIÓN DIGITAL ASIMÉTRICA (ADSL A DIAGNOSTIC TOOL FOR ASYMMETRIC DIGITAL SUBSCRIBER LINE LINKS

    Directory of Open Access Journals (Sweden)

    Mario Medina Carrasco

    2009-04-01

    Full Text Available Se presenta el software CuLineAnalyzer, una herramienta de diagnóstico para enlaces ADSL que aprovecha las mediciones de las razones señal-ruido (SNR de los subcanales de la técnica de transmisión DMT realizadas por las propias unidades de terminación ADSL (ATU. Estos datos son adquiridos remotamente y se almacenan en una estación central, desde donde pueden ser desplegados a solicitud del operador, el cual los utiliza para realizar los diagnósticos pertinentes. Una fortaleza importante de esta herramienta es la capacidad de almacenar mediciones realizadas a diferentes horas del día durante largos períodos para detectar así condiciones esporádicas, errores espurios y tendencias en la condición de la línea. Esta herramienta ha sido usada con éxito para monitorear un banco de módems ADSL Alcatel SpeedTouch. El diseño modular y operación paramétrica de la herramienta permite adaptarla fácilmente a nuevos modelos de módems ADSL y DSLAMs.We present the CuLineAnalyzer software, a diagnostic tool for ADSL links that leverages the DMT subchannel signal-to-noise ratio (SNR measurements made by the ATUs themselves. These measurements are read via remote access and are logged into a central server, from which they can be displayed under operator control, so the pertinent diagnosis can be performed. An important strength of this tool is that it can store measurements performed at different times for long periods, so as to detect sporadic conditions, spurious errors and line condition trends. This tool has been used successfully to monitor a bank of Alcatel SpeedTouch ADSL modems. The tool's modular design and parametric operation makes it easy to adapt it to new ADSL modem and DSLAM models.

  2. The Maastricht Ultrasound Shoulder pain trial (MUST): Ultrasound imaging as a diagnostic triage tool to improve management of patients with non-chronic shoulder pain in primary care

    Science.gov (United States)

    2011-01-01

    Background Subacromial disorders are considered to be one of the most common pathologies affecting the shoulder. Optimal therapy for shoulder pain (SP) in primary care is yet unknown, since clinical history and physical examination do not provide decisive evidence as to the patho-anatomical origin of the symptoms. Optimal decision strategies can be furthered by applying ultrasound imaging (US), an accurate method in diagnosing SP, demonstrating a clear relationship between diagnosis and available therapies. Yet, the clinical cost-effectiveness of applying US in the management of SP in primary care has not been studied. The aim of this paper is to describe the design and methods of a trial assessing the cost-effectiveness of ultrasound imaging as a diagnostic triage tool to improve management of primary care patients with non-chronic shoulder pain. Methods/Design This randomised controlled trial (RCT) will involve 226 adult patients with suspected subacromial disorders recruited by general practitioners. During a Qualification period of two weeks, patients receive care as usual as advised by the Dutch College of General Practitioners, and patients are referred for US. Patients with insufficient improvement qualify for the RCT. These patients are then randomly assigned to the intervention or the control group. The therapies used in both groups are the same (corticosteroid injections, referral to a physiotherapist or orthopedic surgeon) except that therapies used in the intervention group will be tailored based on the US results. Ultrasound diagnosed disorders include tendinopathy, calcific tendinitis, partial and full thickness tears, and subacromial bursitis. The primary outcome is patient-perceived recovery at 52 weeks, using the Global Perceived Effect questionnaire. Secondary outcomes are disease specific and generic quality of life, cost-effectiveness, and the adherence to the initial applied treatment. Outcome measures will be assessed at baseline, 13, 26, 39

  3. Sequential simulation (SqS) of clinical pathways: a tool for public and patient engagement in point-of-care diagnostics.

    Science.gov (United States)

    Huddy, Jeremy R; Weldon, Sharon-Marie; Ralhan, Shvaita; Painter, Tim; Hanna, George B; Kneebone, Roger; Bello, Fernando

    2016-09-13

    Public and patient engagement (PPE) is fundamental to healthcare research. To facilitate effective engagement in novel point-of-care tests (POCTs), the test and downstream consequences of the result need to be considered. Sequential simulation (SqS) is a tool to represent patient journeys and the effects of intervention at each and subsequent stages. This case study presents a process evaluation of SqS as a tool for PPE in the development of a volatile organic compound-based breath test POCT for the diagnosis of oesophagogastric (OG) cancer. Three 3-hour workshops in central London. 38 members of public attended a workshop, 26 (68%) had no prior experience of the OG cancer diagnostic pathway. Clinical pathway SqS was developed from a storyboard of a patient, played by an actor, noticing symptoms of oesophageal cancer and following a typical diagnostic pathway. The proposed breath testing strategy was then introduced and incorporated into a second SqS to demonstrate pathway impact. Facilitated group discussions followed each SqS. Evaluation was conducted through pre-event and postevent questionnaires, field notes and analysis of audiovisual recordings. 38 participants attended a workshop. All participants agreed they were able to contribute to discussions and like the idea of an OG cancer breath test. Five themes emerged related to the proposed new breath test including awareness of OG cancer, barriers to testing and diagnosis, design of new test device, new clinical pathway and placement of test device. 3 themes emerged related to the use of SqS: participatory engagement, simulation and empathetic engagement, and why participants attended. SqS facilitated a shared immersive experience for participants and researchers that led to the coconstruction of knowledge that will guide future research activities and be of value to stakeholders concerned with the invention and adoption of POCT. Published by the BMJ Publishing Group Limited. For permission to use (where not

  4. The Maastricht Ultrasound Shoulder pain trial (MUST: Ultrasound imaging as a diagnostic triage tool to improve management of patients with non-chronic shoulder pain in primary care

    Directory of Open Access Journals (Sweden)

    Cals Jochen WL

    2011-07-01

    Full Text Available Abstract Background Subacromial disorders are considered to be one of the most common pathologies affecting the shoulder. Optimal therapy for shoulder pain (SP in primary care is yet unknown, since clinical history and physical examination do not provide decisive evidence as to the patho-anatomical origin of the symptoms. Optimal decision strategies can be furthered by applying ultrasound imaging (US, an accurate method in diagnosing SP, demonstrating a clear relationship between diagnosis and available therapies. Yet, the clinical cost-effectiveness of applying US in the management of SP in primary care has not been studied. The aim of this paper is to describe the design and methods of a trial assessing the cost-effectiveness of ultrasound imaging as a diagnostic triage tool to improve management of primary care patients with non-chronic shoulder pain. Methods/Design This randomised controlled trial (RCT will involve 226 adult patients with suspected subacromial disorders recruited by general practitioners. During a Qualification period of two weeks, patients receive care as usual as advised by the Dutch College of General Practitioners, and patients are referred for US. Patients with insufficient improvement qualify for the RCT. These patients are then randomly assigned to the intervention or the control group. The therapies used in both groups are the same (corticosteroid injections, referral to a physiotherapist or orthopedic surgeon except that therapies used in the intervention group will be tailored based on the US results. Ultrasound diagnosed disorders include tendinopathy, calcific tendinitis, partial and full thickness tears, and subacromial bursitis. The primary outcome is patient-perceived recovery at 52 weeks, using the Global Perceived Effect questionnaire. Secondary outcomes are disease specific and generic quality of life, cost-effectiveness, and the adherence to the initial applied treatment. Outcome measures will be assessed

  5. The Maastricht Ultrasound Shoulder pain trial (MUST): ultrasound imaging as a diagnostic triage tool to improve management of patients with non-chronic shoulder pain in primary care.

    Science.gov (United States)

    Ottenheijm, Ramon P G; Joore, Manuela A; Walenkamp, Geert H I M; Weijers, René E; Winkens, Bjorn; Cals, Jochen W L; de Bie, Rob A; Dinant, Geert-Jan

    2011-07-08

    Subacromial disorders are considered to be one of the most common pathologies affecting the shoulder. Optimal therapy for shoulder pain (SP) in primary care is yet unknown, since clinical history and physical examination do not provide decisive evidence as to the patho-anatomical origin of the symptoms. Optimal decision strategies can be furthered by applying ultrasound imaging (US), an accurate method in diagnosing SP, demonstrating a clear relationship between diagnosis and available therapies. Yet, the clinical cost-effectiveness of applying US in the management of SP in primary care has not been studied. The aim of this paper is to describe the design and methods of a trial assessing the cost-effectiveness of ultrasound imaging as a diagnostic triage tool to improve management of primary care patients with non-chronic shoulder pain. This randomised controlled trial (RCT) will involve 226 adult patients with suspected subacromial disorders recruited by general practitioners. During a Qualification period of two weeks, patients receive care as usual as advised by the Dutch College of General Practitioners, and patients are referred for US. Patients with insufficient improvement qualify for the RCT. These patients are then randomly assigned to the intervention or the control group. The therapies used in both groups are the same (corticosteroid injections, referral to a physiotherapist or orthopedic surgeon) except that therapies used in the intervention group will be tailored based on the US results. Ultrasound diagnosed disorders include tendinopathy, calcific tendinitis, partial and full thickness tears, and subacromial bursitis. The primary outcome is patient-perceived recovery at 52 weeks, using the Global Perceived Effect questionnaire. Secondary outcomes are disease specific and generic quality of life, cost-effectiveness, and the adherence to the initial applied treatment. Outcome measures will be assessed at baseline, 13, 26, 39 and 52 weeks after

  6. 基于微阵列芯片的比较基因组杂交技术在临床实验室产前诊断中的应用%Prenatal diagnosis by array-based comparative genomic hybridization in the clinical laboratory setting

    Institute of Scientific and Technical Information of China (English)

    Amy M. BREMAN; 毕为民; 张秀慧

    2009-01-01

    Array-based comparative genomic hybridization (array CGH), a method used to detect gains or losses of genetic material, has recently been applied to prenatal diagnosis of genomic imbalance in the clinical laboratory setting. This new and exciting diagnostic tool represents a major technological step forward in cytogenetic testing and addresses many of the limitations of current cytogenetic methods.Conventional chromosome analysis, the current gold standard in prenatal diagnosis, focuses primarily on the detection of common aneuploidies and is limited by its capacity to detect only those copy number changes that are large enough to be microscopically visible (typically 5-6 Mb in size at the 500 band level). In contrast, array CGH analysis simultaneously evaluates regions across the entire genome and al-lows for detection of unbalanced structural and numerical chromosome abnormalities of less than one hun-dred kb. Array CGH analysis also overcomes some of the limitations of chromosome analysis, such as the requirement for cell culture and longer reporting time, by using direct uncultured fetal specimens. With many diagnostic laboratories now embracing this technology, the past year has seen tremendous growth in the use of array CGH analysis for prenatal diagnosis. This review aims to summarize array CGH methodology and its current applications in prenatal diagnosis.

  7. Prenatal diagnosis of hemimegalencephaly.

    Science.gov (United States)

    Lang, Shih-Shan; Goldberg, Ethan; Zarnow, Deborah; Johnson, Mark P; Storm, Phillip B; Heuer, Gregory G

    2014-01-01

    In recent literature, there have been case reports of prenatal diagnosis of hemimegalencephaly, an extremely rare entity characterized by enlargement of all or portions of 1 cerebral hemisphere and intractable seizures. A unique case is presented of hemimegalencephaly of a fetus diagnosed in utero. A 27-year-old woman presented at 32 weeks' gestation for fetal magnetic resonance imaging after an abnormal fetal ultrasound. Fetal magnetic resonance imaging showed hemimegalencephaly of the left cerebral hemisphere with abnormal gyration. The patient was born via cesarean section at 39 weeks' gestation. He had continuous infantile spasms and partial-onset seizures starting on day 1 of life, and electroencephalography showed burst suppression. The patient's seizures were initially managed with antiepileptics, prednisolone, and a ketogenic diet; however, he was hospitalized multiple times because of status epilepticus. At 6 months of age, he underwent a successful anatomic left hemispherectomy. In utero diagnosis of complex developmental brain anomalies allows a multidisciplinary approach to provide optimal prenatal patient treatment and parental counseling. Copyright © 2014 Elsevier Inc. All rights reserved.

  8. Improved tympanic thermometer based on a fiber optic infrared radiometer and an otoscope and its use as a new diagnostic tool for acute otitis media

    Science.gov (United States)

    Fishman, Gadi; DeRowe, Ari; Ophir, Eyal; Scharf, Vered; Shabtai, Abraham; Ophir, Dov; Katzir, Abraham

    1999-06-01

    Clinical diagnosis of acute otitis media (AOM) in children is not easy. It was assumed that there is a difference ΔT between the Tympanic Membrane (TM) temperatures in the two ears in unilateral AOM and that an accurate measurement of ΔT may improve the diagnosis accuracy. An IR transmitting fiber, made of AgClBr, was coupled into a hand held otoscope and was used for the non-contact (radiometric) measurements of TT, the TM temperature. Experiments were carried out, first, on a laboratory model that simulated the human ear, including an artificial tympanic membrane and an artificial ear canal. Measurements carried out using commercially available tympanic thermometers shown that the temperature Tc of the ear canal affected the results. Tc did not affect the fiberoptic radiometer, and this device accurately measured the true temperature, TT of the tympanic membrane. A prospective blinded sampling of the TM temperature was then performed on 48 children with suspected AOM. The mean temperature difference between the ears, for children with unilateral AOM was ΔT = (0.68 +/- 0.27)°C. For children with bilateral AOM it was ΔT = (0.14+/-0.10)°C (p<0.001). It was demonstrated that afor unilateral AOM the difference ΔT was proportional to the systemic temperature. In conclusion, the fiberoptic interferometric measurements of the TM can be a useful non-invasive diagnostic tool for AOM, when combined with other data.

  9. Fluorescence lifetime imaging of DAPI-stained nuclei as a novel diagnostic tool for the detection and classification of B-cell chronic lymphocytic leukemia.

    Science.gov (United States)

    Yahav, Gilad; Hirshberg, Abraham; Salomon, Ophira; Amariglio, Ninette; Trakhtenbrot, Luba; Fixler, Dror

    2016-07-01

    B-cell chronic lymphocytic leukaemia (B-CLL) and B-cell precursor acute lymphoblastic leukaemia (B-ALL) are the most common type of leukaemia in adults and children, respectively. Today, fluorescence in situ hybridization (FISH) is the standard for detecting chromosomal aberrations that reflect adverse and favorable outcome. This study revealed a new, simple, and fast diagnostic tool to detect pathological cells by measuring and imaging the fluorescence lifetime (FLT) using FLT imaging microscopy (FLIM) of the peripheral blood (PB) cells of B-CLL samples that were labeled with the DNA binder, DAPI. The FLT of DAPI in healthy individuals was found to be 2.66 ± 0.12 ns. In contrast, PB cells of B-CLL and BM cells of B-ALL patients were characterized by a specific group distribution of the FLT values. The FLT of DAPI was divided into four subgroups, relative to 2.66 ns: short+, normal, prolonged, and prolonged+. These alterations could be related to different chromatin arrangements of B-CLL and B-ALL interphase nuclei. Notably, extremely long FLT of nuclear DAPI correlate with the presence of extra chromosome 12, while moderate increases compared to normal characterize the deletion of p53. Such correlations potentially enable a FLT-based rapid automatic diagnosis and classification of B-CLL even when the frequency of genetic and chromosomal abnormalities is low. © 2016 International Society for Advancement of Cytometry.

  10. Comparison of the time behavior in the separation of light and heavy materials in X-ray backscattered method as a diagnostic tool in inspection

    Energy Technology Data Exchange (ETDEWEB)

    Faezeh, Rahmani, E-mail: FRahmani@kntu.ac.ir [Department of Physics, K.N. Toosi University of Technology, Tehran (Iran, Islamic Republic of); Sepideh Sadat, Azimi [Radiation Application Department, Shahid Beheshti University, Tehran (Iran, Islamic Republic of); Esmaiel, Bayat; Vahid, Dost Mohammadi [Nuclear Science and Technology Research Institute (NSTR), Tehran (Iran, Islamic Republic of)

    2016-03-11

    X-ray backscattered method based on Compton backscattering is used in the inspection field. In contrast to transmission method, source and detectors are positioned on one side of the target, so in the situation that transmission inspection is difficult, X-ray backscattered method can be provided suitable data in the inspection field. Also, detection of hidden explosives and narcotic materials are very difficult or impossible in transmission methods. High intensity backscattered beam from light materials (low-Z), such as explosives and narcotics, in comparison to the heavy materials (high-Z), made this method as the strong technique in inspection. X-ray and gamma photons scattered by the light material (such as PE and PTFE) as well as heavy material (such as Fe and Cu) were studied using MCNPX2.6 Monte Carlo code. The results showed that rise time of pulse from light materials are slower than that of from heavy materials due to multi scattering of low energy photons in the light ones, so time expansion would occur in signals from light elements. If measurement is possible, the difference in time behavior can be used as a novel method in complementary diagnostic tool beside the use of pulse height in X-ray backscattered method.

  11. Mutation Analysis of H3F3A and H3F3B as a Diagnostic Tool for Giant Cell Tumor of Bone and Chondroblastoma.

    Science.gov (United States)

    Cleven, Arjen H G; Höcker, Saskia; Briaire-de Bruijn, Inge; Szuhai, Karoly; Cleton-Jansen, Anne-Marie; Bovée, Judith V M G

    2015-11-01

    Specific H3F3A driver mutations and IDH2 mutations were recently described in giant cell tumor of bone (GCTB) and H3F3B driver mutations in chondroblastoma; these may be helpful as a diagnostic tool for giant cell-containing tumors of the bone. Using Sanger sequencing, we determined the frequency of H3F3A, H3F3B, IDH1, and IDH2 mutations in GCTBs (n=60), chondroblastomas (n=12), and other giant cell-containing tumors (n=24), including aneurysmal bone cyst, chondromyxoid fibroma, and telangiectatic osteosarcoma. To find an easy applicable marker for H3F3A mutation status, H3K36 trimethylation and ATRX expression were correlated with H3F3A mutations. In total, 69% of all GCTBs harbored an H3F3A (G34W/V) mutation compared with 0% of all other giant cell-containing tumors (Pchondroblastomas showed an H3F3B (K36M) mutation compared with 0% of other giant cell-containing tumors (Pchondroblastoma from other giant cell-containing tumors. Although H3K36 trimethylation and ATRX immunohistochemistry cannot be used as surrogate markers for H3F3A mutation status, mutations in H3F3A are associated with increased H3K36 trimethylation, suggesting that methylation at this residue may play a role in the etiology of the disease.

  12. Evaluation of 18F-FDG PET/CT as a diagnostic imaging and stag