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Sample records for prenatal diagnostic techniques

  1. [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.

  2. 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.

  3. 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 ...

  4. 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

  5. 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

  6. 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

  7. 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.

  8. 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

  9. [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

  10. 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.

  11. 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

  12. 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…

  13. 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…

  14. Imaging Techniques for Microwave Diagnostics

    Energy Technology Data Exchange (ETDEWEB)

    Donne, T. [FOM-Institute for Plasma Physics Rijnhuizen, Trilateral Euregio Cluster, PO Box 1207, 3430 BE Nieuwegein (Netherlands); Luhmann Jr, N.C. [University of California, Davis, CA 95616 (United States); Park, H.K. [POSTECH, Pohang, Gyeongbuk 790-784 (Korea, Republic of); Tobias, B.

    2011-07-01

    Advances in microwave technology have made it possible to develop a new generation of microwave imaging diagnostics for measuring the parameters of magnetic fusion devices. The most prominent of these diagnostics is electron cyclotron emission imaging (ECE-I). After the first generation of ECE-I diagnostics utilized at the TEXT-U, RTP and TEXTOR tokamaks and the LHD stellarator, new systems have recently come into operation on ASDEX-UG and DIII-D, soon to be followed by a system on KSTAR. The DIII-D and KSTAR systems feature dual imaging arrays that observe different parts of the plasma. The ECE-I diagnostic yields two-dimensional movies of the electron temperature in the plasma and has given already new insights into the physics of sawtooth oscillations, tearing modes and edge localized modes. Microwave Imaging Reflectometry (MIR) is used on LHD to measure electron density fluctuations. A pilot MIR system has been tested at TEXTOR and, based on the promising results, a new system is now under design for KSTAR. The system at TEXTOR was used to measure the plasma rotation velocity. The system at KSTAR and also the one on LHD will be/are used for measuring the profile of the electron density fluctuations in the plasma. Other microwave imaging diagnostics are phase imaging interferometry, and imaging microwave scattering. The emphasis in this paper will be largely focused on ECE-I. First an overview of the advances in microwave technology are discussed, followed by a description of a typical ECE-I system along with some typical experimental results. Also the utilization of imaging techniques in other types of microwave diagnostics will be briefly reviewed. This document is composed of the slides of the presentation. (authors)

  15. Update on procedure-related risks for prenatal diagnosis techniques

    DEFF Research Database (Denmark)

    Tabor, Ann; Alfirevic, Zarko

    2010-01-01

    Introduction: As a consequence of the introduction of effective screening methods, the number of invasive prenatal diagnostic procedures is steadily declining. The aim of this review is to summarize the risks related to these procedures. Material and Methods: Review of the literature. Results: Data...... from randomised controlled trials as well as from systematic reviews and a large national registry study are consistent with a procedure-related miscarriage rate of 0.5-1.0% for amniocentesis as well as for chorionic villus sampling (CVS). In single-center studies performance may be remarkably good due...... not be performed before 15 + 0 weeks' gestation. CVS on the other hand should not be performed before 10 weeks' gestation due to a possible increase in risk of limb reduction defects. Discussion: Experienced operators have a higher success rate and a lower complication rate. The decreasing number of prenatal...

  16. 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

  17. 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...

  18. Nanotechnology in Disease Diagnostic Techniques.

    Science.gov (United States)

    Savaliya, Reema; Shah, Darshini; Singh, Ragini; Kumar, Ashutosh; Shankar, Rishi; Dhawan, Alok; Singh, Sanjay

    2015-06-25

    Currently the major research highlights of bioengineering and medical technology are directed towards development of improved diagnostic techniques to screen complex diseases. Screening requirements are for the identification of the cause of illnesses, monitoring the improvement or progression of the state of diseases such as cancer, cardiovascular or neurodegenerative diseases. Nanotechnology enables the manipulation of materials at nanoscale and has shown potential to enhance sensitivity, selectivity and lower the cost of a diagnosis. The causative biomolecules (DNA, proteins) can be detected by red-shifted absorbance of gold nanoparticles or alteration in the conductance of a nanowire or nanotubes, and deflection of a micro or nano-cantilever. Several types of nanomaterials such as metals, metal-oxides and quantum dots have shown ample advantages over traditional diagnosis, intracellular labeling and visualization of target cells/tissues. Nanotechnology has also opened several avenues which could be further developed to enable enhanced visualization of tissues, cells, DNA and proteins over a point-of-care device. Protein or gene chips created using nanomaterials could be further be integrated into a convenient nano-fluidic device for better disease diagnosis.

  19. Integrated diagnostic technique for nuclear power plants

    Energy Technology Data Exchange (ETDEWEB)

    Gofuku, Akio [Graduate School of Natural Science and Technology, Okayama University, Okayama (Japan)

    2014-12-15

    It is very important to detect and identify small anomalies and component failures for the safe operation of complex and large-scale artifacts such as nuclear power plants. Each diagnostic technique has its own advantages and limitations. These facts inspire us not only to enhance the capability of diagnostic techniques but also to integrate the results of diagnostic subsystems in order to obtain more accurate diagnostic results. The article describes the outline of four diagnostic techniques developed for the condition monitoring of the fast breeder reactor 'Monju'. The techniques are (1) estimation technique of important state variables based on a physical model of the component, (2) a state identification technique by non-linear discrimination function applying SVM (Support Vector Machine), (3) a diagnostic technique applying WT (Wavelet Transformation) to detect changes in the characteristics of measurement signals, and (4) a state identification technique effectively using past cases. In addition, a hybrid diagnostic system in which a final diagnostic result is given by integrating the results from subsystems is introduced, where two sets of values called confidence values and trust values are used. A technique to determine the trust value is investigated under the condition that the confidence value is determined by each subsystem.

  20. 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

  1. 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%....

  2. Survey of Diagnostic Techniques for Dynamic Components

    Science.gov (United States)

    2010-01-01

    sensitive to torque fluctuations (19). • NP4 deteriorates as the severity of the damage increases on multiple gear teeth (25). • Crest factor indicates...diagnostic techniques that have been developed for dynamic components such as bearings and gears . There has been a tremendous amount of research... Gears 13  3.1  Diagnostic or Signal Enhancement Techniques ............................................................14  3.2  Time Synchronous Average

  3. Alternative diagnostic technique for carpal tunnel syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hayakawa, Katsuhiko; Nakane, Takashi [Aiko Orthopaedic Hospital, Nagoya (Japan); Kobayashi, Shigeru; Shibata, Kunio [Fujita Health Univ., Toyoake, Aichi (Japan). School of Medicine

    2002-10-01

    Compressive and entrapment neuropathies are common clinical syndromes characterized by neurologic deficits due to mechanical or dynamic compression of peripheral nerves. However, the definitive diagnosis based on clinical symptoms alone is difficult in many cases, and the electrophysiological diagnostic method is solely used as a supplementary diagnostic method at present. As a new diagnostic method for entrapment neuropathy, the present study investigated the usefulness of gadolinium-enhanced MRI in carpal tunnel syndrome. On enhanced MRI of idiopathic carpal tunnel syndrome, contrast-enhancement in the median nerve was found in 30 of 34 hands (88.2%). Enhanced MRI allows to visualize intraneural edema in the nerve easily on the naked eye. Therefore, this technique supplied useful information for making definitive diagnosis and is promising as a non-invasive diagnostic method for entrapment neuropathy. (author)

  4. Novel diagnostic techniques for celiac disease.

    Science.gov (United States)

    Kurppa, Kalle; Taavela, Juha; Saavalainen, Päivi; Kaukinen, Katri; Lindfors, Katri

    2016-07-01

    The diagnosis of celiac disease has long been based on the demonstration of gluten-induced small-bowel mucosal damage. However, due to the constantly increasing disease prevalence and limitations in the histology-based criteria there is a pressure towards more serology-based diagnostics. The serological tools are being improved and new non-invasive methods are being developed, but the constantly refined endoscopic and histologic techniques may still prove helpful. Moreover, growing understanding of the disease pathogenesis has led researchers to suggest completely novel approaches to celiac disease diagnostics regardless of disease activity. In this review, we will elucidate the most recent development and possible future innovations in the diagnostic techniques for celiac disease.

  5. Comparative diagnostic techniques for cryptosporidium infection.

    Science.gov (United States)

    Omoruyi, Beauty E; Nwodo, Uchechukwu U; Udem, Chukwuneke S; Okonkwo, Francis O

    2014-02-24

    Diarrhoea caused by Cryptosporidium is usually mild in immune competent individuals but severe in the young and those with underlying disease leading to compromised immunity. The conventional diagnosis of Cryptosporidium requires observation of the infective oocysts however, their tiny size yields indistinct results, thus limiting the effectiveness of the conventional diagnostic technique, modified Ziehl-Neelsen (ZN) differential staining. Consequent to the abovementioned limitation, ZN staining, sandwich antigen detection enzyme linked immunosorbent assay (sad-ELISA) and a direct polymerase chain reaction (PCR) assay techniques were evaluated for diagnostic efficacy. Stool samples were collected from 180 consenting adult patients attending outpatient and inpatient clinics at Victoria Hospital, Alice, Eastern Cape Province of South Africa. Subjects were stratified as; 35 HIV-positive and diarrhoeagenic, 125 HIV-negative diarrhoeagenic and 20 apparently healthy controls. Cryptosporidium incidence following diagnostic techniques were 13 (37.1%; ZN staining), 26 (74.3%; sad-ELISA) and 23 (65.7%; PCR), respectively, among HIV-positive diarrhoeagenic patients and 34 (27.2%; ZN staining), 96 (76.8%; sad-ELISA) and 89 (71.2%; PCR) among HIV-negative diarrhoeagenic patients. Sensitivity, specificity and predictive values of the diagnostic techniques' efficiency were: sensitivity: 46.2% (HIV-positive) and 32.3% (HIV-negative) against the ZN technique and 96.9% against sad-ELISA and PCR, respectively, for both HIV-positive and -negative patients; specificity was 88.9% (HIV-positive) and 96.6% (HIV-negative) against the ZN technique. Lastly, the predictive values were 92.3% (HIV-positive) and 96.9% (HIV-negative), respectively, following ZN staining. The sad-ELISA technique proved more suitable for the determination of the presence of Cryptosporidium oocysts. The high incidence of Cryptosporidium in HIV-positive subjects as compared to the HIV-negative population accentuates

  6. 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.

  7. Comparative Diagnostic Techniques for Cryptosporidium Infection

    Directory of Open Access Journals (Sweden)

    Beauty E. Omoruyi

    2014-02-01

    Full Text Available Diarrhoea caused by Cryptosporidium is usually mild in immune competent individuals but severe in the young and those with underlying disease leading to compromised immunity. The conventional diagnosis of Cryptosporidium requires observation of the infective oocysts however, their tiny size yields indistinct results, thus limiting the effectiveness of the conventional diagnostic technique, modified Ziehl-Neelsen (ZN differential staining. Consequent to the abovementioned limitation, ZN staining, sandwich antigen detection enzyme linked immunosorbent assay (sad-ELISA and a direct polymerase chain reaction (PCR assay techniques were evaluated for diagnostic efficacy. Stool samples were collected from 180 consenting adult patients attending outpatient and inpatient clinics at Victoria Hospital, Alice, Eastern Cape Province of South Africa. Subjects were stratified as; 35 HIV-positive and diarrhoeagenic, 125 HIV-negative diarrhoeagenic and 20 apparently healthy controls. Cryptosporidium incidence following diagnostic techniques were 13 (37.1%; ZN staining, 26 (74.3%; sad-ELISA and 23 (65.7%; PCR, respectively, among HIV-positive diarrhoeagenic patients and 34 (27.2%; ZN staining, 96 (76.8%; sad-ELISA and 89 (71.2%; PCR among HIV-negative diarrhoeagenic patients. Sensitivity, specificity and predictive values of the diagnostic techniques’ efficiency were: sensitivity: 46.2% (HIV-positive and 32.3% (HIV-negative against the ZN technique and 96.9% against sad-ELISA and PCR, respectively, for both HIV-positive and -negative patients; specificity was 88.9% (HIV-positive and 96.6% (HIV-negative against the ZN technique. Lastly, the predictive values were 92.3% (HIV-positive and 96.9% (HIV-negative, respectively, following ZN staining. The sad-ELISA technique proved more suitable for the determination of the presence of Cryptosporidium oocysts. The high incidence of Cryptosporidium in HIV-positive subjects as compared to the HIV-negative population

  8. Prenatal testing among women pregnant after assisted reproductive techniques in Denmark 1995-2000: a national cohort study

    DEFF Research Database (Denmark)

    Gjerris, A.C.; Loft, A.; Pinborg, A.

    2008-01-01

    BACKGROUND: Women pregnant after assisted reproductive techniques (ART) are generally older than women with spontaneously conceived pregnancies, and are consequently more likely to carry a child affected by a chromosomal disorder. Furthermore, a significantly increased rate of chromosomal...... abnormalities after intracytoplasmatic sperm injection (ICSI) has been reported. The aim of this study was to describe the use and results of prenatal invasive diagnostic testing in a national Danish cohort of in vitro fertilization (IVF)/ICSI pregnancies. Additionally, we examined to what extent second...

  9. 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.

  10. 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.

  11. Diagnostics of nonlocal plasmas: advanced techniques

    Science.gov (United States)

    Mustafaev, Alexander; Grabovskiy, Artiom; Strakhova, Anastasiya; Soukhomlinov, Vladimir

    2014-10-01

    This talk generalizes our recent results, obtained in different directions of plasma diagnostics. First-method of flat single-sided probe, based on expansion of the electron velocity distribution function (EVDF) in series of Legendre polynomials. It will be demonstrated, that flat probe, oriented under different angles with respect to the discharge axis, allow to determine full EVDF in nonlocal plasmas. It is also shown, that cylindrical probe is unable to determine full EVDF. We propose the solution of this problem by combined using the kinetic Boltzmann equation and experimental probe data. Second-magnetic diagnostics. This method is implemented in knudsen diode with surface ionization of atoms (KDSI) and based on measurements of the magnetic characteristics of the KDSI in presence of transverse magnetic field. Using magnetic diagnostics we can investigate the wide range of plasma processes: from scattering cross-sections of electrons to plasma-surface interactions. Third-noncontact diagnostics method for direct measurements of EVDF in remote plasma objects by combination of the flat single-sided probe technique and magnetic polarization Hanley method.

  12. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  14. Dental diagnostics using optical coherence techniques

    Energy Technology Data Exchange (ETDEWEB)

    Nathel, H. [Lawrence Livermore National Lab., CA (United States); Colston, B. [Univ. of California, San Francisco, CA (United States); Armitage, G. [Univ. of California, Davis, CA (United States)] [and others

    1994-11-15

    Optical radiation can be used for diagnostic purposes in oral medicine. However, due to the turbid, amorphous, and inhomogeneous nature of dental tissue conventional techniques used to transilluminate materials are not well suited to dental tissues. Optical coherence techniques either in the time- of frequency-domain offer the capabilities of discriminating scattered from unscattered light, thus allowing for imaging through turbid tissue. Currently, using optical time-domain reflectometry we are able to discriminate specular from diffuse reflections occurring at tissue boundaries. We have determined the specular reflectivity of enamel and dentin to be approximately 6.6 x 10{sup -5} and 1.3 x 10{sup -6}, respectively. Implications to periodontal imaging will be discussed.

  15. Comparison between two surgical techniques for prenatal correction of meningomyelocele in sheep

    OpenAIRE

    Herrera,Silvia Rejane Fontoura; Leme,Ricardo José de Almeida; Valente, Paulo Roberto [UNIFESP; Caldini,Élia Garcia; Saldiva, Paulo Hilário Nascimento; Pedreira, Denise Araujo Lapa

    2012-01-01

    OBJECTIVE: To compare the classical neurosurgical technique with a new simplified technique for prenatal repair of a myelomeningocelelike defect in sheep. METHODS: A myelomeningocele-like defect (laminectomy and dural excision) was created in the lumbar region on day 90 of gestation in 9 pregnant sheep. Correction technique was randomized. In Group 1 the defect was corrected using the classic neurosurgical technique of three-layer suture (dura mater, muscle and skin closure) performed by a ne...

  16. 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.

  17. Dusts in ITER: diagnostics and removal techniques

    Energy Technology Data Exchange (ETDEWEB)

    Rosanvallon, S.; Grisolia, C.; Worms, J.; Hong, S.H. [Association Euratom-CEA Cadarache (DRFC/SIPP), 13 - Saint-Paul-lez-Durance (France). Dept. de Recherches sur la Fusion Controlee; Delaporte, P. [Universite de la Mediterranee, LP3, UMR 6182 CNRS, 13 - Marseille (France); Onofrie, J.F. [University of Provence, IUSTI-CNRS, 13 - Marseille (France); Counsell, G. [Association Euratom/UKAEA, Culham Science Centre, Abingdon (United Kingdom); Winter, J. [lnstitute of Experimental Physics 2, Bochum (Germany)

    2007-07-01

    Full text of publication follows: Dusts will be present in ITER and will represent an issue in terms of safety. As a matter of facts, dusts will be created by interaction of the plasma with the in-vessel materials and will be thus made of carbon, beryllium and tungsten. They will be activated, tritiated and chemically toxic. Safety limits have been set in order to reduce these dust hazards. The first set of limits is based on a limitation of the radiological impact on environment in case of dust spreading. Tungsten has been used as representative of ITER dust because it is the most radiologically hazardous of the plasma facing materials. Thus the mobilizable dust inside the vacuum vessel has to be limited to few hundreds of kilograms of carbon, beryllium and tungsten. The objective of the second set of limits is to ensure that the dust chemical reactivity is adequately controlled. Indeed this reactivity is greatly enhanced on the hot surfaces of the divertor in case of steam ingress, oxidation of the metals, beryllium in particular, leading to hydrogen production and possible explosion. The dusts on the hot surfaces of the divertor should not exceed few kilograms of carbon, beryllium and tungsten. Some calculations have shown that the dusts limits inside the vacuum vessel could be reached in about 500 plasma pulses, and in any case before the assumed replacement of the divertor for planned maintenance. Thus techniques for dust diagnostics and removal need to be developed for ITER to ensure that the set of safety limits are fulfilled. To minimize the impact on the machine operation time, these techniques have to be elaborated considering the ITER vacuum vessel constraints if entering the machine (magnetic field, radiation, vacuum and temperature) or to be non invasive. This paper will present a strategy that could be developed at different periods of the machine operation (during/between pulses and during short or long maintenance periods) in order to monitor the

  18. 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.

  19. 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.

  20. 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.

  1. Antenna Diagnostics using Near Field Techniques

    NARCIS (Netherlands)

    Paquay, M.H.A.

    1996-01-01

    The radiation characteristics of an antenna are fully determined by its aperture distribution. Measured Near Field data gives an impression but this is not good enough to detect small anomalies. For good antenna diagnostics, the field at the aperture plane is required. The Near Field Measurement Tec

  2. Development of novel fuel ion ratio diagnostic techniques

    Energy Technology Data Exchange (ETDEWEB)

    Korsholm, S. B.; Stejner, M.; Bindslev, H.; Furtula, V.; Leipold, F.; Meo, F.; Michelsen, P. K.; Moseev, D.; Nielsen, S. K.; Salewski, M. [Association EURATOM-Risoe DTU, 4000 Roskilde (Denmark); Conroy, S.; Ericsson, G. [Association EURATOM-VR, Uppsala University, 75120 Uppsala (Sweden); Gorini, G.; Tardocchi, M. [Association EURATOM-ENEA CNR, 20125 Milano (Italy); Hellermann, M. von; Lischtschenko, O.; Delabie, E. [Association EURATOM-FOM, 3430 BE Nieuwegein (Netherlands); Jaspers, R. J. E. [Department of Applied Physics, Fusion Group, Eindhoven University of Technology, 5612 AZ Eindhoven (Netherlands)

    2010-10-15

    To overcome the challenge of measuring the fuel ion ratio in the core ({rho}<0.3) of ITER, a coordinated effort aiming at developing diagnostic techniques has been initiated. The investigated techniques are novel uses or further development of existing methods such as charge exchange recombination spectrometry, neutron spectrometry, and collective Thomson scattering. An overview of the work on the three diagnostic techniques is presented.

  3. [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.

  4. Application of Molecular Cytogenetic Technique for Rapid Prenatal Diagnosis of Aneuploidies in Iranian Population

    Directory of Open Access Journals (Sweden)

    Habib Nasiri

    2009-06-01

    Full Text Available Objective: Classic cell culture and karyotyping is routinely used for prenatal detection of different chromosomal abnormalities. Molecular cytogenetic techniques have also recently been developed and used for this purpose. Quantitative florescence PCR using short tandem repeat (STR markers has more potential for high throughput diagnosis. Marker heterozygosity in short tandem repeats (STR is of critical importance in the clinical applicablity of this method. Materials and Methods: Different STR markers on chromosomes 13, 18, 21, X and Y  were analysed from  amniotic samples to detect related disorders such as Down, Edward, Patau,  Klinefelter sundromes , as well as sex chromosomes numerical abnormalities . Results: In our population some markers (D18S976, DXS6854, D21S11, and D21S1411 showed alleles with sizes out of expected ranges. But others occupied narrower range of predicted distribution. Most markers have enough heterozygosity (66.3-94.7 to be used for prenatal diagnosis. Furthermore, results obtained from full karyotype for all samples were in concordance with results of molecular cytogenetic testing. Conclusion: It is concluded that, in urgent situations, if proper markers used, molecular cytogenetic testing (QF-PCR could be a useful method for rapid prenatal diagnosis (PND in populations with high rate of consanguinity such as Iran.  

  5. 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.

  6. 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...

  7. Comparative analyses of plasma probe diagnostics techniques

    Energy Technology Data Exchange (ETDEWEB)

    Godyak, V. A. [Electrical Engineering and Computer Science Department, University of Michigan, Ann Arbor, Michigan 48109, USA and RF Plasma Consulting, Brookline, Massachusetts 02446 (United States); Alexandrovich, B. M. [Plasma Sensors, Brookline, Massachusetts 02446 (United States)

    2015-12-21

    The subject of this paper is a comparative analysis of the plasma parameters inferred from the classical Langmuir probe procedure, from different theories of the ion current to the probe, and from measured electron energy distribution function (EEDF) obtained by double differentiation of the probe characteristic. We concluded that the plasma parameters inferred from the classical Langmuir procedure can be subjected to significant inaccuracy due to the non-Maxwellian EEDF, uncertainty of locating the plasma potential, and the arbitrariness of the ion current approximation. The plasma densities derived from the ion part of the probe characteristics diverge by as much as an order of magnitude from the density calculated according to Langmuir procedure or calculated as corresponding integral of the measured EEDF. The electron temperature extracted from the ion part is always subjected to uncertainty. Such inaccuracy is attributed to modification of the EEDF for fast electrons due to inelastic electron collisions, and to deficiencies in the existing ion current theories; i.e., unrealistic assumptions about Maxwellian EEDFs, underestimation of the ion collisions and the ion ambipolar drift, and discounting deformation of the one-dimensional structure of the region perturbed by the probe. We concluded that EEDF measurement is the single reliable probe diagnostics for the basic research and industrial applications of highly non-equilibrium gas discharge plasmas. Examples of EEDF measurements point up importance of examining the probe current derivatives in real time and reiterate significance of the equipment technical characteristics, such as high energy resolution and wide dynamic range.

  8. 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

  9. Carrier detection and prenatal diagnosis of hemophilia B with more advanced techniques.

    Science.gov (United States)

    Caprino, D; Acquila, M; Mori, P G

    1993-12-01

    We used the PCR to amplify three polymorphic regions of Factor IX gene on 35 Italian families: DdeI intron 1, Mn1I exon f, and the polymorphism HhaI located 8 kb at the 3' end of FIX gene. We analyzed the Mn1I and HhaI markers on DGGE and DdeI polymorphism on agarose gel. We reached an informativity of 78% and we found one mutation at codon 145 (exon f) during the screening for Mn1I polymorphism. Furthermore, we performed 16 prenatal diagnoses on chorionic villus samples; five were female and 11 male. Four were uninformative three healthy and one affected male fetus were recognized by PCR techniques, two healthy and one affected fetus by Southern analysis. In three pregnant women examined for the first time during pregnancy, the PCR technique allowed us to perform a rapid diagnosis of noncarrier status, avoiding the fetal sampling procedures.

  10. 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.

  11. 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.)

  12. Muon Diagnostics : A New Technique of Heliosphere Investigations

    NARCIS (Netherlands)

    Petrukhin, A. A.

    2009-01-01

    A new technique of remote monitoring of dynamic processes in the heliosphere (muon diagnostics) has been presented. The approach is based on the analysis of spatial-angular and temporal variations of muon flux detected at the ground level simultaneously from all directions of the upper hemisphere. F

  13. Muon Diagnostics : A New Technique of Heliosphere Investigations

    NARCIS (Netherlands)

    Petrukhin, A. A.

    2009-01-01

    A new technique of remote monitoring of dynamic processes in the heliosphere (muon diagnostics) has been presented. The approach is based on the analysis of spatial-angular and temporal variations of muon flux detected at the ground level simultaneously from all directions of the upper hemisphere. F

  14. 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).

  15. Diagnostic Emergency Ultrasound: Assessment Techniques In The Pediatric Patient.

    Science.gov (United States)

    Guttman, Joshua; Nelson, Bret P

    2016-01-01

    Emergency ultrasound is performed at the point of care to answer focused clinical questions in a rapid manner. Over the last 20 years, the use of this technique has grown rapidly, and it has become a core requirement in many emergency medicine residencies and in some pediatric emergency medicine fellowships. The use of emergency ultrasound in the pediatric setting is increasing due to the lack of ionizing radiation with these studies, as compared to computed tomography. Utilizing diagnostic ultrasound in the emergency department can allow clinicians to arrive at a diagnosis at the bedside rather than sending the patient out of the department for another study. This issue focuses on common indications for diagnostic ultrasound, as found in the pediatric literature or extrapolated from adult literature where pediatric evidence is scarce. Limitations, current trends, controversies, and future directions of diagnostic ultrasound in the emergency department are also discussed.

  16. 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.

  17. Prenatal diagnosis of congenital toxoplasmosis: comparative value of fetal blood and amniotic fluid using serological techniques and cultures.

    Science.gov (United States)

    Fricker-Hidalgo, H; Pelloux, H; Muet, F; Racinet, C; Bost, M; Goullier-Fleuret, A; Ambroise-Thomas, P

    1997-09-01

    The prenatal diagnosis of congenital toxoplasmosis is mainly based on biological tests performed on fetal blood and amniotic fluid. We studied the performance of neonatal diagnosis procedures and the results of fetal blood and amniotic fluid analysis. Of 127 women who contracted toxoplasmosis and underwent prenatal diagnosis, the postnatal serological follow-up was long enough to definitively diagnose congenital toxoplasmosis in 19 cases and to exclude it in 27 cases. Prenatal diagnosis allowed the detection of 94.7 per cent (18/19) of the infected fetuses. The sensitivities of tests in amniotic fluid and fetal blood were equivalent, 88.2 per cent (15/17) and 87.5 per cent (14/16), respectively. In fetal blood, biological techniques were positive in 12/16 cases and in 2/16 cases, serological tests were the only positive sign. The specificities of tests in amniotic fluid and fetal blood were respectively 100 per cent (23/23) and 86.3 per cent (19/22) (three false-positive serological results). These results, added to the lower morbidity of amniocentesis compared with cordocentesis, might lead to cordocentesis being abandoned in the prenatal diagnosis of congenital toxoplasmosis.

  18. 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

  19. New diagnostic technique for Zeeman-compensated atomic beam slowing: technique and results

    NARCIS (Netherlands)

    Molenaar, P.A.; Straten, P. van der; Heideman, H.G.M.; Metcalf, H.

    2001-01-01

    We have developed a new diagnostic tool for the study of Zeeman-compensated slowing of an alkali atomic beam. Our time-of-flight technique measures the longitudinal veloc- ity distribution of the slowed atoms with a resolution below the Doppler limit of 30 cm/s. Furthermore, it can map the position

  20. 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.

  1. 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.

  2. Diagnostic techniques for measuring suprathermal electron dynamics in plasmas (invited).

    Science.gov (United States)

    Coda, S

    2008-10-01

    Plasmas, both in the laboratory and in space, are often not in thermodynamic equilibrium, and the plasma electron distribution function is accordingly non-Maxwellian. Suprathermal electron tails can be generated by external drives, such as rf waves and electric fields, or internal ones, such as instabilities and magnetic reconnection. The variety and importance of the phenomena in which suprathermal electrons play a significant role explains an enduring interest in diagnostic techniques to investigate their properties and dynamics. X-ray bremsstrahlung emission has been studied in hot magnetized plasmas for well over two decades, flanked progressively by electron-cyclotron emission in geometries favoring the high-energy end of the distribution function (high-field-side, vertical, oblique emission), by electron-cyclotron absorption, by spectroscopic techniques, and at lower temperatures, by Langmuir probes and electrostatic analyzers. Continuous progress in detector technology and in measurement and analysis techniques, increasingly sophisticated layouts (multichannel and tomographic systems, imaging geometries), and highly controlled suprathermal generation methods (e.g., perturbative rf modulation) have all been brought to bear in recent years on an increasingly detailed, although far from complete, understanding of suprathermal electron dynamics.

  3. Resonant laser techniques for combustion and flow diagnostics

    Energy Technology Data Exchange (ETDEWEB)

    Fritzon, Rolf

    1998-05-01

    This thesis presents results from two areas of research. Firstly, the resonant coherent laser techniques polarization spectroscopy (PS), degenerate four-wave mixing (DFWM) and stimulated emission (SE) have been developed in the general field of combustion diagnostics. Secondly, laser induced fluorescence (LIF) has been developed and applied for the visualization of mixture fractions in turbulent non reacting flows. PS was developed for instantaneous two-dimensional imaging of minor species in flames, the technique being demonstrated on OH and NO. Various aspects of imaging and of detection in general were investigated. Two-photon induced PS was demonstrated for the detection of NH{sub 3}, CO and N{sub 2} molecules. LIF was monitored simultaneously to allow a quantitative comparison between the techniques. Furthermore, PS and DFWM were developed for instantaneous two-dimensional OH temperature imaging. Through a novel experimental approach based on the use of a dual-wavelength dye laser and a diffraction grating the temperature imaging measurements were performed using only one laser and one CCD camera. A comparison between the two techniques was made. SE was through a crossed-beam arrangement developed for spatially resolved detection of flame species. Two-dimensional LIF was developed and applied for measuring mixture fractions in the shear layer between two co-flowing turbulent gaseous jets. The technique was further applied in a study of the mixing of a turbulent water jet impinging orthogonally onto a flat surface. Average concentration fields in the center-plane of the jet was compared with results from large eddy simulations and with data from the literature 221 refs, 48 figs, 5 tabs

  4. 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 ...

  5. New diagnostic technique for Zeeman-compensated atomic beam slowing: technique and results

    OpenAIRE

    Molenaar, P.A.; Van Der Straten, P.; Heideman, H.G.M.; Metcalf, H

    2001-01-01

    We have developed a new diagnostic tool for the study of Zeeman-compensated slowing of an alkali atomic beam. Our time-of-flight technique measures the longitudinal veloc- ity distribution of the slowed atoms with a resolution below the Doppler limit of 30 cm/s. Furthermore, it can map the position and velocity distribution of atoms in either ground hyperfine level inside the solenoid without any devices inside the solenoid. The technique reveals the optical pumping ef- fects, and shows in de...

  6. Diagnostic Techniques to Elucidate the Aerodynamic Performance of Acoustic Liners

    Science.gov (United States)

    June, Jason; Bertolucci, Brandon; Ukeiley, Lawrence; Cattafesta, Louis N., III; Sheplak, Mark

    2017-01-01

    In support of Topic A.2.8 of NASA NRA NNH10ZEA001N, the University of Florida (UF) has investigated the use of flow field optical diagnostic and micromachined sensor-based techniques for assessing the wall shear stress on an acoustic liner. Stereoscopic particle image velocimetry (sPIV) was used to study the velocity field over a liner in the Grazing Flow Impedance Duct (GFID). The results indicate that the use of a control volume based method to determine the wall shear stress is prone to significant error. The skin friction over the liner as measured using velocity curve fitting techniques was shown to be locally reduced behind an orifice, relative to the hard wall case in a streamwise plane centered on the orifice. The capacitive wall shear stress sensor exhibited a linear response for a range of shear stresses over a hard wall. PIV over the liner is consistent with lifting of the near wall turbulent structure as it passes over an orifice, followed by a region of low wall shear stress.

  7. 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

  8. 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

  9. 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 ...

  10. The reliability of specific sacro-occipital technique diagnostic tests.

    Science.gov (United States)

    Leboeuf, C

    1991-01-01

    Four interexaminer and one intraexaminer agreement studies were performed on specific diagnostic tests commonly employed within sacro-occipital technique (SOT). Ten of the tests were evaluated in more than one interexaminer study. Of these, only one test (bilateral supine leg raise with cervical compaction) had at least fair reliability more than once. Six of these 10 tests obtained poor agreement in more than one study. One examiner out of two had a number of excellent and fair intraexaminer values, whereas the other examiner generally had poor results. There may have been some treatment effect as a comparison of the combined intraexaminer diagnosis for two observers after no treatment and after treatment showed that the repeatability diminished from Kappa of 0.36 in untreated cases (which were expected to have high agreement of before and after treatment findings) to a Kappa of 0.27 for those subjects having received treatment (which were expected to have low agreement of before and after treatment findings). It appears unlikely that SOT tests can be reproduced to a sufficiently high degree to constitute useful clinical procedures.

  11. Development of advanced strain diagnostic techniques for reactor environments.

    Energy Technology Data Exchange (ETDEWEB)

    Fleming, Darryn D.; Holschuh, Thomas Vernon,; Miller, Timothy J.; Hall, Aaron Christopher; Urrea, David Anthony,; Parma, Edward J.,

    2013-02-01

    The following research is operated as a Laboratory Directed Research and Development (LDRD) initiative at Sandia National Laboratories. The long-term goals of the program include sophisticated diagnostics of advanced fuels testing for nuclear reactors for the Department of Energy (DOE) Gen IV program, with the future capability to provide real-time measurement of strain in fuel rod cladding during operation in situ at any research or power reactor in the United States. By quantifying the stress and strain in fuel rods, it is possible to significantly improve fuel rod design, and consequently, to improve the performance and lifetime of the cladding. During the past year of this program, two sets of experiments were performed: small-scale tests to ensure reliability of the gages, and reactor pulse experiments involving the most viable samples in the Annulated Core Research Reactor (ACRR), located onsite at Sandia. Strain measurement techniques that can provide useful data in the extreme environment of a nuclear reactor core are needed to characterize nuclear fuel rods. This report documents the progression of solutions to this issue that were explored for feasibility in FY12 at Sandia National Laboratories, Albuquerque, NM.

  12. Prenatal diagnosis of Langer-Giedion Syndrome confirmed by BACs-on-Beads technique.

    Science.gov (United States)

    Piotrowski, Krzysztof; Halec, Wojciech; Wegrzynowski, Jerzy; Pietrzyk, Aleksandra; Henkelman, Małgorzata; Zajaczek, Stanisław

    2014-01-01

    Langer-Giedion Syndrome (LGS), with characteristic phenotypic features including craniofacial dysmorphic signs, postnatal growth retardation and skeletal abnormalities, mental impairment, urogenital malformations and heart defects, is caused by partial deletions of the long arm of chromosome 8. We present a case of a female fetus with LGS. The diagnosis was molecularly proven with the BACs on Beads method at 32 weeks of gestation. To the best of our knowledge, prenatal recognition of that genetic defect had previously been made in only one case. Also, it has never been described before.

  13. 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- ...

  14. Comparision of different diagnostic techniques against Fasciolosis in Buffaloes

    Directory of Open Access Journals (Sweden)

    Salam

    2009-08-01

    Full Text Available The present study was conducted to compare different diagnostic tests viz., Direct Smear (DS, Agar gel precipitation (AGP, Sedimentation (Sd, and Zinc Sulfate (ZnSO4 flotation for fasciolosis in dairy buffaloes as well as the economic losses due to fasciolosis. A total of 200 faecal samples were examined and DS, AGP, Sd, and ZnSO4 flotation techniques showed an overall prevalence of 2, 8, 5 and 4%, respectively. The highest agreement was observed between Sd and ZnSO4 (0.88, 95%CI; 0.74-1.02 followed by AGP and Sd (0.75, 95%CI; 0.62-0.88, ZnSO4 and DS (0.65,95%CI; 0.52-0.78, AGP and ZnSO4 (0.648, 95%CI; 0.51-0.77, DS and Sd (0.55, 95%CI; 0.43-0.68, and DSM and AGP (0.38, 95%CI; 0.27-0.48. By taking DS as a gold standard, all tests showed 100 percent sensitivity results and same trend was observed in case of negative predictive values (NPV. Highest specificity was shown by ZnSO4, followed by Sd and AGP. Similar trends were observed in the positive predictive values (PPV. Then, by taking AGP as gold standard, all tests showed 100 percent specificity and positive predictive values (PPV while, Sd showed highest sensitivity followed by ZnSO4 and AGP and similar trend was observed regarding NPV of tests. To this end, most effective test is AGP followed by Sd, ZnSO4 and DS method. Moreover, AGP is the most suitable method for diagnosing the fasciolosis in early stages. Total economic losses due to fasciolosis during three months (Oct. – Dec. 2004 were found very high i.e Rs. 1016400. [Vet. World 2009; 2(4.000: 129-132

  15. 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

  16. 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.

  17. 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

  18. Developpement de techniques de diagnostic non intrusif par tomographie optique

    Science.gov (United States)

    Dubot, Fabien

    Que ce soit dans les domaines des procedes industriels ou de l'imagerie medicale, on a assiste ces deux dernieres decennies a un developpement croissant des techniques optiques de diagnostic. L'engouement pour ces methodes repose principalement sur le fait qu'elles sont totalement non invasives, qu'elle utilisent des sources de rayonnement non nocives pour l'homme et l'environnement et qu'elles sont relativement peu couteuses et faciles a mettre en oeuvre comparees aux autres techniques d'imagerie. Une de ces techniques est la Tomographie Optique Diffuse (TOD). Cette methode d'imagerie tridimensionnelle consiste a caracteriser les proprietes radiatives d'un Milieu Semi-Transparent (MST) a partir de mesures optiques dans le proche infrarouge obtenues a l'aide d'un ensemble de sources et detecteurs situes sur la frontiere du domaine sonde. Elle repose notamment sur un modele direct de propagation de la lumiere dans le MST, fournissant les predictions, et un algorithme de minimisation d'une fonction de cout integrant les predictions et les mesures, permettant la reconstruction des parametres d'interet. Dans ce travail, le modele direct est l'approximation diffuse de l'equation de transfert radiatif dans le regime frequentiel tandis que les parametres d'interet sont les distributions spatiales des coefficients d'absorption et de diffusion reduit. Cette these est consacree au developpement d'une methode inverse robuste pour la resolution du probleme de TOD dans le domaine frequentiel. Pour repondre a cet objectif, ce travail est structure en trois parties qui constituent les principaux axes de la these. Premierement, une comparaison des algorithmes de Gauss-Newton amorti et de Broyden- Fletcher-Goldfarb-Shanno (BFGS) est proposee dans le cas bidimensionnel. Deux methodes de regularisation sont combinees pour chacun des deux algorithmes, a savoir la reduction de la dimension de l'espace de controle basee sur le maillage et la regularisation par penalisation de Tikhonov

  19. Carrier Screening and Prenatal Gene Diagnosis of β-thalassemia by PCR-RDB Technique

    Institute of Scientific and Technical Information of China (English)

    张宏秀; 单可人; 惠春林; 何燕; 袁筑华; 窦友莲; 曾金琳; 谢渊; 修瑾

    2003-01-01

    In order to identify the distribution of gene types of β-thalassemia and reduce the birthrates of β-thalassemia major in Guiyang area, 1054 pregnant women and their spouses from Affiliated Hospital, Guiyang Medical College were screened. The positive samples were analyzed with polymerase chain reaction and reverse dot blot method (PCR-RDB). When both partners were heterozygous identified as carriers for β- thalassemia, the risk of having a fetus who was homozygous or compound heterozygous was 2.66 %; the ratio of male to female was 1/1.15. Seven types of mutation were identified. CD17 and CD41-42 were dominant among them. Among the 4 cases subject to prenatal gene diagnosis, one fetus was completely normal and 3 fetuses were diagnosed as having β-thalassemia major (1 homozygous and 2 compound heterozygous). The fetuses diagnosed as β-thalassemia major were selectively terminated within two weeks. It was concluded that the birthrate of β-thalassemia major in Guiyang area was reduced and the target of improving birth outcome and child development has been achieved.

  20. The diagnostic contribution of CT volumetric rendering techniques in routine practice

    OpenAIRE

    Perandini Simone; Faccioli N; Zaccarella A; Re T; Mucelli R

    2010-01-01

    Computed tomography (CT) volumetric rendering techniques such as maximum intensity projection (MIP), minimum intensity projection (MinIP), shaded surface display (SSD), volume rendering (VR), and virtual endoscopy (VE) provide added diagnostic capabilities. The diagnostic value of such reconstruction techniques is well documented in literature. These techniques permit the exploration of fine anatomical detail that would be difficult to evaluate using axial reconstructions alone. Although thes...

  1. Tunable diode laser spectroscopy as a technique for combustion diagnostics

    Science.gov (United States)

    Bolshov, M. A.; Kuritsyn, Yu. A.; Romanovskii, Yu. V.

    2015-04-01

    Tunable diode laser absorption spectroscopy (TDLAS) has become a proven method of rapid gas diagnostics. In the present review an overview of the state of the art of TDL-based sensors and their applications for measurements of temperature, pressure, and species concentrations of gas components in harsh environments is given. In particular, the contemporary tunable diode laser systems, various methods of absorption detection (direct absorption measurements, wavelength modulation based phase sensitive detection), and relevant algorithms for data processing that improve accuracy and accelerate the diagnostics cycle are discussed in detail. The paper demonstrates how the recent developments of these methods and algorithms made it possible to extend the functionality of TDLAS in the tomographic imaging of combustion processes. Some prominent examples of applications of TDL-based sensors in a wide range of practical combustion aggregates, including scramjet engines and facilities, internal combustion engines, pulse detonation combustors, and coal gasifiers, are given in the final part of the review.

  2. Tunable diode laser spectroscopy as a technique for combustion diagnostics

    Energy Technology Data Exchange (ETDEWEB)

    Bolshov, M.A., E-mail: bolshov@isan.troitsk.ru; Kuritsyn, Yu.A.; Romanovskii, Yu.V.

    2015-04-01

    Tunable diode laser absorption spectroscopy (TDLAS) has become a proven method of rapid gas diagnostics. In the present review an overview of the state of the art of TDL-based sensors and their applications for measurements of temperature, pressure, and species concentrations of gas components in harsh environments is given. In particular, the contemporary tunable diode laser systems, various methods of absorption detection (direct absorption measurements, wavelength modulation based phase sensitive detection), and relevant algorithms for data processing that improve accuracy and accelerate the diagnostics cycle are discussed in detail. The paper demonstrates how the recent developments of these methods and algorithms made it possible to extend the functionality of TDLAS in the tomographic imaging of combustion processes. Some prominent examples of applications of TDL-based sensors in a wide range of practical combustion aggregates, including scramjet engines and facilities, internal combustion engines, pulse detonation combustors, and coal gasifiers, are given in the final part of the review. - Highlights: • Overview of modern TDL-based sensors for combustion • TDL systems, methods of absorption detection and algorithms of data processing • Prominent examples of TDLAS diagnostics of the combustion facilities • Extension of the TDLAS on the tomographic imaging of combustion processes.

  3. Endoscopy as a diagnostic and therapeutic alternative technique of taeniasis

    Directory of Open Access Journals (Sweden)

    Héctor Julian Canaval-Zuleta

    Full Text Available Despite a low incidence in developed countries, gastrointestinal taeniasis should be suspected in patients with abdominal pain, diarrhea, anemia, and/or malabsorption of unknown origin, even more so if they come from endemic regions or areas with poor hygienic and alimentary habits. Diagnosis is traditionally reached by identifying the parasite in stools, but more recently both serological and immunological approaches are also available. Based on a patient diagnosed by gastroscopy, a literature review was undertaken of patients diagnosed by endoscopy. We discuss endoscopy as diagnostic modality, and the effectiveness and safety that endoscopic treatment may provide in view of the potential risk for neurocysticercosis.

  4. Endoscopy as a diagnostic and therapeutic alternative technique of taeniasis.

    Science.gov (United States)

    Canaval Zuleta, Héctor Julián; Company Campins, María M; Dolz Abadía, Carlos

    2016-06-01

    Despite a low incidence in developed countries, gastrointestinal taeniasis should be suspected in patients with abdominal pain, diarrhea, anemia, and/or malabsorption of unknown origin, even more so if they come from endemic regions or areas with poor hygienic and alimentary habits. Diagnosis is traditionally reached by identifying the parasite in stools, but more recently both serological and immunological approaches are also available. Based on a patient diagnosed by gastroscopy, a literature review was undertaken of patients diagnosed by endoscopy. We discuss endoscopy as diagnostic modality, and the effectiveness and safety that endoscopic treatment may provide in view of the potential risk for neurocysticercosis.

  5. Application of Molecular Diagnostic Techniques for Viral Testing

    OpenAIRE

    Cobo, Fernando

    2012-01-01

    Nucleic acid amplification techniques are commonly used currently to diagnose viral diseases and manage patients with this kind of illnesses. These techniques have had a rapid but unconventional route of development during the last 30 years, with the discovery and introduction of several assays in clinical diagnosis. The increase in the number of commercially available methods has facilitated the use of this technology in the majority of laboratories worldwide. This technology has reduced the...

  6. Laboratory diagnosis of Toxoplasma gondii infection with direct and indirect diagnostic techniques

    Directory of Open Access Journals (Sweden)

    Salvatore Pignanelli

    2011-01-01

    Full Text Available Background: Toxoplasma gondii infection, common parasitic zoonoses, is an important cause of spontaneous abortion, mental retardation, encephalitis, ocular disease and death worldwide. Today the major diagnostic techniques for the toxoplasmosis are serological assays, but its have many limitations. Aim : The goal in this study is to improve the diagnostic accuracy of T. gondii infection, using direct (Real Time PCR and indirect (IgM, IgA, IgG and IgG avidity diagnostic techniques. Materials and Methods: In the period between 2007 and 2008, 96 non consecutive different clinical samples (38 blood, 40 amniotic fluids, 8 cerebrospinal fluids, 10 vitreous humors and 96 sera have been studied simultaneously through molecular biology and serological techniques. Results: Direct and indirect diagnostic techniques used in this study for laboratory diagnosis of T. gondii infection were always concordant. Conclusions : The high correlation between direct and indirect diagnostic techniques exhibit that serologic techniques are accurate diagnostic assays as screening test in laboratory diagnosis of toxoplasmosis.

  7. Electro-optic techniques in electron beam diagnostics

    Energy Technology Data Exchange (ETDEWEB)

    van Tilborg, Jeroen; Toth, Csaba; Matlis, Nicholas; Plateau, Guillaume; Leemans, Wim

    2011-06-17

    Electron accelerators such as laser wakefield accelerators, linear accelerators driving free electron lasers, or femto-sliced synchrotrons, are capable of producing femtosecond-long electron bunches. Single-shot characterization of the temporal charge profile is crucial for operation, optimization, and application of such accelerators. A variety of electro-optic sampling (EOS) techniques exists for the temporal analysis. In EOS, the field profile from the electron bunch (or the field profile from its coherent radiation) will be transferred onto a laser pulse co-propagating through an electro-optic crystal. This paper will address the most common EOS schemes and will list their advantages and limitations. Strong points that all techniques share are the ultra-short time resolution (tens of femtoseconds) and the single-shot capabilities. Besides introducing the theory behind EOS, data from various research groups is presented for each technique.

  8. Measurement Techniques for Electrothermal-Chemical Gun Diagnostics

    Science.gov (United States)

    1993-12-01

    conductors of a circuit ( Askeland 1985). This technique has been successfully applied to other experimental work including the pressure measurements made in...Fe2O4 ( Askeland 1985). Ferrites are implemented by wrapping the power cords and coaxial data lines of all electronics equipment tightly for several... Askeland , D. R. The Sciece and Engineering of Materials. Prindle, Weber, and Schmidt, 1985. Burden. H. S., and D. D. Shear. "Transient Noise in Electronic

  9. Development of fault diagnostic technique using reactor noise analysis

    Energy Technology Data Exchange (ETDEWEB)

    Park, Jin Ho; Kim, J. S.; Oh, I. S.; Ryu, J. S.; Joo, Y. S.; Choi, S.; Yoon, D. B

    1999-04-01

    The ultimate goal of this project is to establish the analysis technique to diagnose the integrity of reactor internals using reactor noise. The reactor noise analyses techniques for the PWR and CANDU NPP(Nuclear Power Plants) were established by which the dynamic characteristics of reactor internals and SPND instrumentations could be identified, and the noise database corresponding to each plant(both Korean and foreign one) was constructed and compared. Also the change of dynamic characteristics of the Ulchin 1 and 2 reactor internals were simulated under presumed fault conditions. Additionally portable reactor noise analysis system was developed so that real time noise analysis could directly be able to be performed at plant site. The reactor noise analyses techniques developed and the database obtained from the fault simulation, can be used to establish a knowledge based expert system to diagnose the NPP's abnormal conditions. And the portable reactor noise analysis system may be utilized as a substitute for plant IVMS(Internal Vibration Monitoring System). (author)

  10. Analysis of diagnostic calorimeter data by the transfer function technique

    Science.gov (United States)

    Delogu, R. S.; Poggi, C.; Pimazzoni, A.; Rossi, G.; Serianni, G.

    2016-02-01

    This paper describes the analysis procedure applied to the thermal measurements on the rear side of a carbon fibre composite calorimeter with the purpose of reconstructing the energy flux due to an ion beam colliding on the front side. The method is based on the transfer function technique and allows a fast analysis by means of the fast Fourier transform algorithm. Its efficacy has been tested both on simulated and measured temperature profiles: in all cases, the energy flux features are well reproduced and beamlets are well resolved. Limits and restrictions of the method are also discussed, providing strategies to handle issues related to signal noise and digital processing.

  11. Analysis of diagnostic calorimeter data by the transfer function technique

    Energy Technology Data Exchange (ETDEWEB)

    Delogu, R. S., E-mail: rita.delogu@igi.cnr.it; Pimazzoni, A.; Serianni, G. [Consorzio RFX, Corso Stati Uniti, 35127 Padova (Italy); Poggi, C.; Rossi, G. [Università degli Studi di Padova, Via 8 Febbraio 1848, 35122 Padova (Italy)

    2016-02-15

    This paper describes the analysis procedure applied to the thermal measurements on the rear side of a carbon fibre composite calorimeter with the purpose of reconstructing the energy flux due to an ion beam colliding on the front side. The method is based on the transfer function technique and allows a fast analysis by means of the fast Fourier transform algorithm. Its efficacy has been tested both on simulated and measured temperature profiles: in all cases, the energy flux features are well reproduced and beamlets are well resolved. Limits and restrictions of the method are also discussed, providing strategies to handle issues related to signal noise and digital processing.

  12. 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.

  13. 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.

  14. A High-Resolution Antenna Diagnostics Technique for Spherical Nesr-Field Measurements

    DEFF Research Database (Denmark)

    Cappellin, Cecilia; Breinbjerg, Olav; Frandsen, Aksel

    2005-01-01

    A new diagnostics technique for spherical near-field antenna measurements, that can provide a high spatial resolution of the reconstructed aperture field, is presented. This technique is realized by transforming the spherical wave expansion (SWE) of the radiated field into the corresponding plane...

  15. Comparison of different antenna diagnostics techniques with limited far field data input

    DEFF Research Database (Denmark)

    Pivnenko, Sergey; Cappellin, Cecilia

    2015-01-01

    In this paper, three different antenna diagnostics techniques are compared for the case when the input far-field data represent only few complete cuts or a two-dimensional grid with a limited angular sector. The techniques are applied to several different antennas: a high-gain offset reflector...... and extreme near fields....

  16. The influence on finite measurement accuracy on the SWE-to-PWE antenna diagnostics technique

    DEFF Research Database (Denmark)

    Cappellin, Cecilia; Breinbjerg, Olav; Frandsen, Aksel

    2006-01-01

    A new antenna diagnostics technique based on the transformation of the spherical wave expansion (SWE) into the plane wave expansion (PWE) is proposed. The new technique allows the recovery of the plane wave spectrum in the visible region, and in principle also in part of the invisible region, from...

  17. [THE CYTOMETRIC TECHNIQUE OF BINDING OF EOSIN-5-MALEIMIDE IN DIAGNOSTIC OF INHERENT SPHEROCYTOSIS].

    Science.gov (United States)

    Kuzminova, J A; Plyasunova, S A; Jogov, V V; Smetanina, N S

    2016-03-01

    The laboratory diagnostic of inherent spherocytosis is based on detection of spherocytes in peripheral blood, decreasing of index of sphericity, decreasing of osmotic resistance of erythrocytes. The new test of diagnostic of hereditary spherocytosis build on molecular defect was developed on the basis of binding extracellular fragments of protein of band 3 with eosin-5-maleimide (EMA-test). The study was carried out to implement comparative analysis of sensitivity and specificity of techniques applied to diagnose inherent spherocytosis. The sampling of 94 patients with various forms of anemias was analyzed All patients were applied complex clinical laboratory examination including analysis of osmotic resistance of erythrocytes, erythrocytometry and EMA-test as specific techniques of diagnostic of inherent spherocytosis. In 51 out of 94 patients (54%) decreasing of values of EMA-test was detected and in 47 patients diagnosis of inherent spherocytosis was confirmed. The standard values of EMA-test were established in 43 patients (46%) and 12 patients out of them with established diagnosis of inherent spherocytosis. Therefore, sensitivity of EMA-test made up to 79% and specificity - 80%. The most sensitive techniques of diagnostic remain osmotic resistance of erythrocytes (91%) and index of sphericity (up to 96%). But the highest specificity in this respect has EMA-test (80%). Nowadays, none of implemented techniques of diagnostic of inherent spherocytosis can be applied as a universal one. The implementation of complex examination is needed for proper diagnostic of disease.

  18. 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

  19. Application of the SWE-to-PWE antenna diagnostics technique to an offset reflector antenna

    DEFF Research Database (Denmark)

    Cappellin, Cecilia; Frandsen, A; Breinbjerg, Olav

    2007-01-01

    A new antenna diagnostics technique has been developed for the DTU-ESA Spherical Near-Field Antenna Test Facility at the Technical University of Denmark. The technique is based on the transformation of the Spherical Wave Expansion (SWE) of the radiated field, obtained from a spherical near...... will be detected in the antenna far-field pattern, and the accuracy and ability of the diagnostics technique to subsequently identify them will be investigated. Real measurement data will be employed for each test case....... measurement accuracy, have been reported previously, we validate here the new antenna diagnostics technique through an experimental investigation of a commercially available offset reflector antenna, where a tilt of the feed and surface distortions are intentionally introduced. The effects of these errors...

  20. Coherent Rayleigh-Brillouin scattering as a flow diagnostic technique

    Energy Technology Data Exchange (ETDEWEB)

    Graul, J. S.; Lilly, T. C. [Department of Mechanical and Aerospace Engineering, University of Colorado Colorado Springs, 1420 Austin Bluffs Parkway, Colorado Springs, CO 80918 (United States)

    2014-12-09

    Broadband coherent Rayleigh-Brillouin scattering (CRBS) was used to measure translational gas temperatures for nitrogen at the ambient pressure of 0.8 atm using a purpose-built Fabry-Perot etalon spectrometer. Temperatures derived from the CRBS spectral analysis were compared with experimentally-measured temperatures, and were found to be, on average, within 2% of the experimentally-measured value. Axial flow velocities from a double jet at a pressure ratio of 0.38 were also measured by looking at the Doppler shift of the CRBS line shape. With recent developments in chirped laser technology and the capacity of CRBS to simultaneously provide thermodynamic and bulk flow information, the CRBS line shape acquisition and analysis technique presented here may allow for future time-resolved, characterization of aerospace flows.

  1. Cardiovascular procedures/diagnostic techniques and therapeutic procedures

    Energy Technology Data Exchange (ETDEWEB)

    Tilkian, A.G.; Daily, E.K.

    1986-01-01

    This book covers the technical and therapeutic aspects of cardiovascular procedures in immense detail. There are large and appropriate diagrams and tables. The topics of the chapters are tools for catheterization, venous access, arterial access, hemodynamic monitoring, cardiac catheterization and coronary arteriography, ergonovine provocation testing for coronary artery spasm, pulmonary angiography, endomyocredial biopsy, electrophysiologic studies, pericardiocentesis and drainage, intraaortic balloon pumping, direct current cardioversion and defibrilaltion, pacemaker implantation of the automatic implantable cardioverter/defibrillator, coronary angioplasty, thrombolytic therapy, transluminal catheter extraction and resolution of intracardiac catheter knots, cardiopulmonary resuscitation, contrast media toxicity and allergic reactions, radiation hazards, and medicolegal concerns. An appendix and index follow these chapters. In general, each chapter covers historical aspects, indications, complications, techniques, and preoperative and postoperative care.

  2. 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.

  3. A Hybrid Neural Network-Genetic Algorithm Technique for Aircraft Engine Performance Diagnostics

    Science.gov (United States)

    Kobayashi, Takahisa; Simon, Donald L.

    2001-01-01

    In this paper, a model-based diagnostic method, which utilizes Neural Networks and Genetic Algorithms, is investigated. Neural networks are applied to estimate the engine internal health, and Genetic Algorithms are applied for sensor bias detection and estimation. This hybrid approach takes advantage of the nonlinear estimation capability provided by neural networks while improving the robustness to measurement uncertainty through the application of Genetic Algorithms. The hybrid diagnostic technique also has the ability to rank multiple potential solutions for a given set of anomalous sensor measurements in order to reduce false alarms and missed detections. The performance of the hybrid diagnostic technique is evaluated through some case studies derived from a turbofan engine simulation. The results show this approach is promising for reliable diagnostics of aircraft engines.

  4. Review of Physicochemical-Based Diagnostic Techniques for Assessing Insulation Condition in Aged Transformers

    Directory of Open Access Journals (Sweden)

    Janvier Sylvestre N’cho

    2016-05-01

    Full Text Available A power transformer outage has a dramatic financial consequence not only for electric power systems utilities but also for interconnected customers. The service reliability of this important asset largely depends upon the condition of the oil-paper insulation. Therefore, by keeping the qualities of oil-paper insulation system in pristine condition, the maintenance planners can reduce the decline rate of internal faults. Accurate diagnostic methods for analyzing the condition of transformers are therefore essential. Currently, there are various electrical and physicochemical diagnostic techniques available for insulation condition monitoring of power transformers. This paper is aimed at the description, analysis and interpretation of modern physicochemical diagnostics techniques for assessing insulation condition in aged transformers. Since fields and laboratory experiences have shown that transformer oil contains about 70% of diagnostic information, the physicochemical analyses of oil samples can therefore be extremely useful in monitoring the condition of power transformers.

  5. Cost Analysis on Imaging Diagnostic Techniques in Cerebral and Abdominal Neonatal Pathology

    OpenAIRE

    BOTAR-JID, CAROLINA; Sorin M. DUDEA; Cristiana A. CIORTEA; Sorana D. BOLBOACĂ; Anca CIUREA

    2009-01-01

    Background: Improvement of health care quality and cost control are the main aims of the health care reform in Romania. Objective: The aims of the research are to analyse the trend of costs for imaging techniques used as diagnostic tools for cerebral and abdominal neonatal pathology and to study the relationship between cost and diagnostic benefits. Design: This is a retrospective observational study design without a control group, conducted in the Radio-Imaging Department, Cluj District Univ...

  6. Development of detection techniques and diagnostics for airborne carbon nanoparticles.

    Energy Technology Data Exchange (ETDEWEB)

    Michelsen, Hope A.; Witze, Peter O.; Settersten, Thomas B.

    2003-11-01

    We have recorded time-resolved LII signals from a laminar ethylene diffusion flame over a wide range of laser fluences at 532 nm. We have performed these experiments using an injection-seeded NdYAG laser with a pulse duration of 7 ns. The beam was spatially filtered and imaged into the flame to provide a homogeneous spatial profile. These data were used to aid in the development of a model, which will be used to test the validity of the LII technique under varying environmental conditions. The new model describes the heating of soot particles during the laser pulse and the subsequent cooling of the particles by radiative emission, sublimation, and conduction. The model additionally includes particle heating by oxidation, accounts for the likelihood of particle annealing, and incorporates a mechanism for nonthermal photodesorption, which is required for good agreement with our experimental results. In order to investigate the fast photodesorption mechanism in more detail, we have recorded LII temporal profiles using a regeneratively amplified Nd:YAG laser with a pulse duration of 70 ps to heat the particles and a streak camera with a temporal resolution of {approx}65 ps to collect the signal. Preliminary results confirm earlier indications of a fast mechanism leading to signal decay rates of much less than a nanosecond. Parameters to which the model is sensitive include the initial soot temperature, the temperature of the ambient gas, and the partial pressure of oxygen. In order to narrow the model uncertainties, we have developed a source of soot that allows us to determine and control these parameters. Soot produced by a burner is extracted, diluted, and cooled in a flow tube, which is equipped with a Scanning Mobility Particle Sizer (SMPS) for characterization of the aggregates.

  7. 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

  8. Prenatal screening and genetics

    DEFF Research Database (Denmark)

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

    2001-01-01

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

  9. 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.

  10. An accurate automated technique for quasi-optics measurement of the microwave diagnostics for fusion plasma

    Science.gov (United States)

    Hu, Jianqiang; Liu, Ahdi; Zhou, Chu; Zhang, Xiaohui; Wang, Mingyuan; Zhang, Jin; Feng, Xi; Li, Hong; Xie, Jinlin; Liu, Wandong; Yu, Changxuan

    2017-08-01

    A new integrated technique for fast and accurate measurement of the quasi-optics, especially for the microwave/millimeter wave diagnostic systems of fusion plasma, has been developed. Using the LabVIEW-based comprehensive scanning system, we can realize not only automatic but also fast and accurate measurement, which will help to eliminate the effects of temperature drift and standing wave/multi-reflection. With the Matlab-based asymmetric two-dimensional Gaussian fitting method, all the desired parameters of the microwave beam can be obtained. This technique can be used in the design and testing of microwave diagnostic systems such as reflectometers and the electron cyclotron emission imaging diagnostic systems of the Experimental Advanced Superconducting Tokamak.

  11. Anesthesia Technique In A Patient With Langerhans Cell Histiocytosis For Diagnostic Biopsy

    Directory of Open Access Journals (Sweden)

    Abdi S

    2005-07-01

    Full Text Available Histiocytosis under general anesthesia. In these patients, depend on organs involvement and dysfunction, anesthesia technique and specific drugs should be selected.of langerhans cells consist of a range of clinical manifestations, including bone eosimophilic granuloma, Hand-Schuller-Chiristian syndrome and Letterer-Siwe disease. Definitive diagnosis is based on biopsy of involved tissues. This report describes anesthesia technique in a 2 years old girl for diagnostic biopsy

  12. A novel technique for detecting antibiotic-resistant typhoid from rapid diagnostic tests.

    OpenAIRE

    2015-01-01

    Fluoroquinolone-resistant typhoid is increasing. An antigen-detecting rapid diagnostic test (RDT) can rapidly diagnose typhoid from blood cultures. A simple, inexpensive molecular technique performed with DNA from positive RDTs accurately identified gyrA mutations consistent with phenotypic susceptibility testing results. Field diagnosis combined with centralized molecular resistance testing could improve typhoid management and surveillance in low-resource settings.

  13. The Sandtray Technique for Swedish Children 1945-1960: Diagnostics, Psychotherapy and Processes of Individualisation

    Science.gov (United States)

    Nelson, Karin Zetterqvist

    2011-01-01

    The present article examines the development of a diagnostic and therapeutic technique named The Sandtray at the Erica Foundation, a privately-run child counselling service in Stockholm. Originally it was called The World, developed by the British paediatrician and child psychiatrist Margaret Lowenfeld. In the 1930s it was imported to Sweden,…

  14. 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.

  15. 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

  16. Advanced Laser-Based Techniques for Gas-Phase Diagnostics in Combustion and Aerospace Engineering.

    Science.gov (United States)

    Ehn, Andreas; Zhu, Jiajian; Li, Xuesong; Kiefer, Johannes

    2017-03-01

    Gaining information of species, temperature, and velocity distributions in turbulent combustion and high-speed reactive flows is challenging, particularly for conducting measurements without influencing the experimental object itself. The use of optical and spectroscopic techniques, and in particular laser-based diagnostics, has shown outstanding abilities for performing non-intrusive in situ diagnostics. The development of instrumentation, such as robust lasers with high pulse energy, ultra-short pulse duration, and high repetition rate along with digitized cameras exhibiting high sensitivity, large dynamic range, and frame rates on the order of MHz, has opened up for temporally and spatially resolved volumetric measurements of extreme dynamics and complexities. The aim of this article is to present selected important laser-based techniques for gas-phase diagnostics focusing on their applications in combustion and aerospace engineering. Applicable laser-based techniques for investigations of turbulent flows and combustion such as planar laser-induced fluorescence, Raman and Rayleigh scattering, coherent anti-Stokes Raman scattering, laser-induced grating scattering, particle image velocimetry, laser Doppler anemometry, and tomographic imaging are reviewed and described with some background physics. In addition, demands on instrumentation are further discussed to give insight in the possibilities that are offered by laser flow diagnostics.

  17. QUANTITATIVE BUFFY COAT (QBC TEST AND OTHER DIAGNOSTIC TECHNIQUES FOR DIAGNOSIG MALARIA: REVIEW OF LITRATURE

    Directory of Open Access Journals (Sweden)

    Kuladeepa Ananda Vaidya

    2012-06-01

    Full Text Available The technical capability to perform a correct and timely diagnosis of malaria infection in an ill patient is of critical importance since symptoms of complicated malaria may suddenly develop, leading to death of the patient. Even though peripheral blood smear examination is considered as the gold standard technique, tests like Quantitative Buffy Coat (QBC test and Rapid diagnostic tests (RDTs are widely used and more sensitive in detecting malaria parasite. Here we are briefly highlighting the importance of QBC and other useful diagnostic methods for diagnosing malaria. [National J of Med Res 2012; 2(3.000: 386-388

  18. Calibration techniques for fast-ion D{sub {alpha}} diagnostics

    Energy Technology Data Exchange (ETDEWEB)

    Heidbrink, W. W.; Bortolon, A.; Muscatello, C. M.; Ruskov, E. [University of California, Irvine, California 92697 (United States); Grierson, B. A.; Podesta, M. [Princeton Plasma Physics Laboratory, Princeton, New Jersey 08543 (United States)

    2012-10-15

    Fast-ion D{sub {alpha}} measurements are an application of visible charge-exchange recombination (CER) spectroscopy that provide information about the energetic ion population. Like other CER diagnostics, the standard intensity calibration is obtained with an integrating sphere during a vacuum vessel opening. An alternative approach is to create plasmas where the fast-ion population is known, then calculate the expected signals with a synthetic diagnostic code. The two methods sometimes agree well but are discrepant in other cases. Different background subtraction techniques and simultaneous measurements of visible bremsstrahlung and of beam emission provide useful checks on the calibrations and calculations.

  19. MR cholangiopancreatography: technique, potential indications, and diagnostic features of benign, postoperative, and malignant conditions

    Energy Technology Data Exchange (ETDEWEB)

    Becker, C.D. [Department of Radiology, Division of Diagnostic and Interventional Radiology, University Hospital of Geneva, CH-1211 Geneva (Switzerland); Grossholz, M. [Department of Radiology, Division of Diagnostic and Interventional Radiology, University Hospital of Geneva, CH-1211 Geneva (Switzerland); Mentha, G. [Department of Surgery, University Hospital of Geneva, CH-1211 Geneva (Switzerland); Peyer, R. de [Division of Gastroenterology, University Hospital of Geneva, CH-1211 Geneva (Switzerland); Terrier, F. [Department of Radiology, Division of Diagnostic and Interventional Radiology, University Hospital of Geneva, CH-1211 Geneva (Switzerland)

    1997-08-01

    The objective of this article is to review technical aspects, discuss potential clinical indications for MR cholangiopancreatography (MRCP) and demonstrate the spectrum of diagnostic findings in benign, postoperative, and malignant conditions. We describe our current imaging protocol in comparison with other available techniques. Using a non-breath-hold, heavily T2-weighted fast-spin-echo (FSE) sequence with or without respiratory gating we obtained coronal and axial source images and maximum intensity projections (MIPs) in 102 patients with suspected abnormalities of the biliary or pancreatic ducts. Based on this series we demonstrate the diagnostic appearance of a variety of benign, postoperative, and malignant conditions of the biliary and pancreatic ducts and discuss potential clinical indications for MRCP. The non-breath-hold FSE technique enables a consistent image quality even in patients who cannot cooperate well. Respiratory gating increased the rate of diagnostic examinations from 79 to 95 %. Acquisition of coronal and axial source images enables detection of bile duct stones as small as 2 mm, although calculi that are impacted and not surrounded by hyperintense bile may sometimes be difficult to detect. The MIP reconstructions help to determine the level of obstruction in malignant jaundice, delineate anatomical variants and malformations, and to diagnose inflammatory conditions, e. g., sclerosing cholangitis, the Mirizzi syndrome and inflammatory changes in the main pancreatic duct. The MRCP technique also correctly demonstrates the morphology of bilio-enteric or bilio-biliary anastomoses. Because MRCP provides sufficient diagnostic information in a wide range of benign and malignant biliary and pancreatic disorders, it could obviate diagnostic endoscopic retrograde cholangiopancreatography (ERCP) in many clinical settings. The ERCP technique may be increasingly reserved for patients in whom nonsurgical interventional procedures are anticipated. (orig

  20. Comparison of diagnostic performances among bronchoscopic sampling techniques in the diagnosis of peripheral pulmonary lesions.

    Science.gov (United States)

    Boonsarngsuk, Viboon; Kanoksil, Wasana; Laungdamerongchai, Sarangrat

    2015-04-01

    There are many sampling techniques dedicated to radial endobronchial ultrasound (R-EBUS) guided flexible bronchoscopy (FB). However, data regarding the diagnostic performances among bronchoscopic sampling techniques is limited. This study was conducted to compare the diagnostic yields among bronchoscopic sampling techniques in the diagnosis of peripheral pulmonary lesions (PPLs). A prospective study was conducted on 112 patients who were diagnosed with PPLs and underwent R-EBUS-guided FB between Oct 2012 and Sep 2014. Sampling techniques-including transbronchial biopsy (TBB), brushing cell block, brushing smear, rinsed fluid of brushing, and bronchoalveolar lavage (BAL)-were evaluated for the diagnosis. The mean diameter of the PPLs was 23.5±9.5 mm. The final diagnoses included 76 malignancies and 36 benign lesions. The overall diagnostic yield of R-EBUS-guided bronchoscopy was 80.4%; TBB gave the highest yield among the 112 specimens: 70.5%, 34.8%, 62.5%, 50.0% and 42.0% for TBB, brushing cell block, brushing smear, rinsed brushing fluid, and BAL fluid (BALF), respectively (Ptechniques should be performed together.

  1. In-vitro and in-vivo diagnostic techniques for prostate cancer: a review.

    Science.gov (United States)

    McClure, Patrick; Elnakib, Ahmed; Abou El-Ghar, Mohamed; Khalifa, Fahmi; Soliman, Ahmed; El-Diasty, Tarek; Suri, Jasjit S; Elmaghraby, Adel; El-Baz, Ayman

    2014-10-01

    This paper overviews one of the most important, interesting, and challenging problems in oncology, early diagnosis of prostate cancer. Developing effective diagnostic techniques for prostate cancer is of great clinical importance and can improve the effectiveness of treatment and increase the patient's chance of survival. The main focus of this study is to overview the different in-vitro and in-vivo technologies for diagnosing prostate cancer. This review discusses the current clinically used in-vitro cancer diagnostic tools, such as biomarker tests and needle biopsies and including their applications, advantages, and limitations. Moreover, the current in-vitro research tools that focus on the role of nanotechnology in prostate cancer diagnosis have been detailed. In addition to the in-vitro techniques, the current study discusses in detail developed in-vivo non-invasive state-of-the-art Computer-Aided Diagnosis (CAD) systems for prostate cancer based on analyzing Transrectal Ultrasound (TRUS) and different types of magnetic resonance imaging (MRI), e.g., T2-MRI, Diffusion Weighted Imaging (DWI), Dynamic Contrast Enhanced (DCE)-MRI, and multi-parametric MRI, focusing on their implementation, experimental procedures, and reported outcomes. Furthermore, the paper addresses the limitations of the current prostate cancer diagnostic techniques, outlines the challenges that these techniques face, and introduces the recent trends to solve these challenges, which include biomarkers used in in-vitro lab-on-a-chip nanotechnology-based methods.

  2. Electrical-Based Diagnostic Techniques for Assessing Insulation Condition in Aged Transformers

    Directory of Open Access Journals (Sweden)

    Issouf Fofana

    2016-08-01

    Full Text Available The condition of the internal cellulosic paper and oil insulation are of concern for the performance of power transformers. Over the years, a number of methods have been developed to diagnose and monitor the degradation/aging of the transformer internal insulation system. Some of this degradation/aging can be assessed from electrical responses. Currently there are a variety of electrical-based diagnostic techniques available for insulation condition monitoring of power transformers. In most cases, the electrical signals being monitored are due to mechanical or electric changes caused by physical changes in resistivity, inductance or capacitance, moisture, contamination or aging by-products in the insulation. This paper presents a description of commonly used and modern electrical-based diagnostic techniques along with their interpretation schemes.

  3. Molecular isothermal techniques for combating infectious diseases: towards low-cost point-of-care diagnostics.

    Science.gov (United States)

    de Paz, Hector David; Brotons, Pedro; Muñoz-Almagro, Carmen

    2014-09-01

    Nucleic acid amplification techniques such as PCR have facilitated rapid and accurate diagnosis in central laboratories over the past years. PCR-based amplifications require high-precision instruments to perform thermal cycling reactions. Such equipment is bulky, expensive and complex to operate. Progressive advances in isothermal amplification chemistries, microfluidics and detectors miniaturisation are paving the way for the introduction and use of compact 'sample in-results out' diagnostic devices. However, this paradigm shift towards decentralised testing poses diverse technological, economic and organizational challenges both in industrialized and developing countries. This review describes the landscape of molecular isothermal diagnostic techniques for infectious diseases, their characteristics, current state of development, and available products, with a focus on new directions towards point-of-care applications.

  4. BRIEF REVIEW ON DIAGNOSTIC TECHNIQUE AND NOVEL MOLECULES IN CLINICAL TRIALS FOR TREATMENT OF BREAST CANCER

    Directory of Open Access Journals (Sweden)

    VISHAL KUMAR S. MODI

    2015-01-01

    Full Text Available Breast cancer is the most common cancer in women in both developed and undeveloped countries, and the second most frequent cause of cancer deaths after lung cancer. Although there have been many chemotherapeutic agents like 5-fluorouracil, taxol, tamoxifen, doxorubicin, cisplatin, and camptothecin and hormones are used to treat breast cancer. This review focuses on the causes of breast cancer, latest diagnostic techniques and various molecules under clinical trials for the treatment of breast cancer.

  5. Plasma diagnostic techniques in thermal-barrier tandem-mirror fusion experiments

    Energy Technology Data Exchange (ETDEWEB)

    Silver, E.H.; Clauser, J.F.; Carter, M.R.; Failor, B.H.; Foote, J.H.; Hornady, R.S.; James, R.A.; Lasnier, C.J.; Perkins, D.E.

    1986-08-29

    We review two classes of plasma diagnostic techniques used in thermal-barrier tandem-mirror fusion experiments. The emphasis of the first class is to study mirror-trapped electrons at the thermal-barrier location. The focus of the second class is to measure the spatial and temporal behavior of the plasma space potential at various axial locations. The design and operation of the instruments in these two categories are discussed and data that are representative of their performance is presented.

  6. Diagnostic techniques for measurement of aerodynamic noise in free field and reverberant environment of wind tunnels

    Science.gov (United States)

    El-Sum, H. M. A.; Mawardi, O. K.

    1973-01-01

    Techniques for studying aerodynamic noise generating mechanisms without disturbing the flow in a free field, and in the reverberation environment of the ARC wind tunnel were investigated along with the design and testing of an acoustic antenna with an electronic steering control. The acoustic characteristics of turbojet as a noise source, detection of direct sound from a source in a reverberant background, optical diagnostic methods, and the design characteristics of a high directivity acoustic antenna. Recommendations for further studies are included.

  7. Diagnostic Values of Laser Fluorescence Device with Other Techniques in Occlusal Caries Detection

    Directory of Open Access Journals (Sweden)

    A. Chehresaz

    2009-06-01

    Full Text Available Objective: The aim of the present study was to compare the performance of laser fluorescence (LF method with other conventional diagnostic techniques in detection of smallocclusal caries in permanent teeth.Materials and Methods: Prior to this in vitro diagnostic study, a pilot study assessed intra-examiner reliability and reproducibility. The occlusal surfaces of 90 extracted human premolars were examined with four diagnostic methods: probing, visual inspection, bitewing(BW radiographs, and LF. The teeth were then sectioned for the purpose of histological examination. The data were analyzed using SPSS 15 software, and sensitivity,specificity and other diagnostic criteria of the techniques were calculated.Results: The intra-examiner reproducibility for probing and also radiographic techniques was 100%. The corresponded figure for LF (88% was more than visual inspection (82%.The highest level of validity of the examiner turned out to be in probing technique(76.9%. Sensitivity of visual inspection, probing, and LF methods was 54.5% and that of BW radiography was 27.5%. Specificity and efficiency of LF method were 84.8% and 81.1%, respectively. Probing and visual inspection showed the highest specificity (97.5% and 94.9, respectively and efficiency (92.2% and 90%, respectively among the methods.Conclusion: Specificity and efficiency of LF method were lower compared to those of other methods. Among all the investigated methods, the most efficient methods in the diagnosis of small occlusal caries in permanent teeth were probing and visual inspection,respectively.

  8. 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...

  9. Magnetic Diagnostics of the Solar Corona: Synthesizing Optical and Radio Techniques

    Science.gov (United States)

    Casini, R.; White, S. M.; Judge, P. G.

    2017-09-01

    In this contribution we review the current state-of-the-art of coronal magnetometry, in both optical and radio domains. We address the achievable objectives and the challenges of present measurement techniques and interpretation tools. In particular, we focus on the role that these observations can play for constraining and validating numerical models of the global coronal magnetic field. With regard to optical techniques, we mainly focus on the use of M1 diagnostics, further developing the theory of the formation of their polarization signatures in the magnetized corona.

  10. Optical diagnostics of vascular reactions triggered by weak allergens using laser speckle-contrast imaging technique

    Energy Technology Data Exchange (ETDEWEB)

    Kuznetsov, Yu L; Kalchenko, V V [Department of Veterinary Resources, Weizmann Institute of Science, Rehovot, 76100 (Israel); Astaf' eva, N G [V.I.Razumovsky Saratov State Medical University, Saratov (Russian Federation); Meglinski, I V [N.G. Chernyshevsky Saratov State University, Saratov (Russian Federation)

    2014-08-31

    The capability of using the laser speckle contrast imaging technique with a long exposure time for visualisation of primary acute skin vascular reactions caused by a topical application of a weak contact allergen is considered. The method is shown to provide efficient and accurate detection of irritant-induced primary acute vascular reactions of skin. The presented technique possesses a high potential in everyday diagnostic practice, preclinical studies, as well as in the prognosis of skin reactions to the interaction with potentially allergenic materials. (laser biophotonics)

  11. Optical diagnostics of vascular reactions triggered by weak allergens using laser speckle-contrast imaging technique

    Science.gov (United States)

    Kuznetsov, Yu L.; Kalchenko, V. V.; Astaf'eva, N. G.; Meglinski, I. V.

    2014-08-01

    The capability of using the laser speckle contrast imaging technique with a long exposure time for visualisation of primary acute skin vascular reactions caused by a topical application of a weak contact allergen is considered. The method is shown to provide efficient and accurate detection of irritant-induced primary acute vascular reactions of skin. The presented technique possesses a high potential in everyday diagnostic practice, preclinical studies, as well as in the prognosis of skin reactions to the interaction with potentially allergenic materials.

  12. 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.

  13. Cost Analysis on Imaging Diagnostic Techniques in Cerebral and Abdominal Neonatal Pathology

    Directory of Open Access Journals (Sweden)

    Carolina BOTAR-JID

    2009-12-01

    Full Text Available Background: Improvement of health care quality and cost control are the main aims of the health care reform in Romania. Objective: The aims of the research are to analyse the trend of costs for imaging techniques used as diagnostic tools for cerebral and abdominal neonatal pathology and to study the relationship between cost and diagnostic benefits. Design: This is a retrospective observational study design without a control group, conducted in the Radio-Imaging Department, Cluj District University Hospital, Romania, from October 2000 to February 2006. Patients: The study population was represented by neonates investigated in the Radio-Imaging Department, Cluj District University Hospital. Intervention: Five imaging diagnostic techniques used in the diagnosis of cerebral and abdominal neonatal pathology were investigated. Measurements: The costs of the investigated techniques were calculated. The concordance between clinical and imaging diagnostic was recorded. Results: Magnetic resonance proved to be the most expensive investigation. The rate between the raising of costs on investigation type on year was constant. The average cost of imaging investigations for patients with identified pathological aspects (€ 42.72 was not statistically significant (p > 0.05 compared with the average cost for patients with no pathologic imaging aspects (€ 37.62. The concordance between the clinical suspicion and the radio-imaging diagnosis was of 52.35%. Conclusions: The raise of radio-imaging investigation costs had a decreasing tendency over the years studied, decrease explained by the stabilization of the Romanian monetary market. The results on concordance analysis lead to the necessity of training of both clinicians and radiologists.

  14. Noninvasive prenatal testing (NIPT) in twin pregnancies with treatment of assisted reproductive techniques (ART) in a single center

    DEFF Research Database (Denmark)

    Tan, YueQiu; Gao, Ya; Lin, Ge

    2016-01-01

    Objective: The objective of the study is to report the performance of noninvasive prenatal testing (NIPT) in twin pregnancies after the treatment of assisted reproductive technology (ART). Method: In two years period, 565 pregnant women with ART twin pregnancies were prospectively tested by NIPT......-test counseling. Results: In total of 565 cases, NIPT had a failure rate of 0.9% (5/565). Four cases of T21 were identified by NIPT and confirmed by karyotyping, resulting in 100% (95%CI 39.8%-100%) positive predictive value. Among 556 cases with NIPT negative results, 506 cases (91.0%) were confirmed by follow......-up of postnatal phenotypes, while 33 cases (5.9%) had adverse pregnant outcomes with unconfirmed reasons because of the lack of cytogenetic samples. The remaining 17 cases (3.1%) refused follow-up. No false negative result was reported. Conclusion: With apparently high positive predictive value and low false...

  15. PREFACE: IX International Conference on Modern Techniques of Plasma Diagnostics and their Application

    Science.gov (United States)

    Savjolov, A. S.; Dodulad, E. I.

    2016-01-01

    The IX Conference on ''Modern Techniques of Plasma Diagnosis and their Application'' was held on 5 - 7 November, 2014 at National Research Nuclear University MEPhI (NRNU MEPhI). The goal of the conference was an exchange of information on both high-temperature and low-temperature plasma diagnostics as well as deliberation and analysis of various diagnostic techniques and their applicability in science, industry, ecology, medicine and other fields. The Conference also provided young scientists from scientific centres and universities engaged in plasma diagnostics with an opportunity to attend the lectures given by the leading specialists in this field as well as present their own results and findings. The first workshop titled ''Modern problems of plasma diagnostics and their application for control of chemicals and the environment'' took place at Moscow Engineering and Physics Institute (MEPhI) in June 1998 with the support of the Section on Diagnostics of the Council of Russian Academic of Science on Plasma Physics and since then these forums have been held at MEPhI every two years. In 2008 the workshop was assigned a conference status. More than 150 specialists on plasma diagnostics and students took part in the last conference. They represented leading Russian scientific centres (such as Troitsk Institute of Innovative and Thermonuclear Research, National Research Centre ''Kurchatov Institute'', Russian Federal Nuclear Centre - All-Russian Scientific Research Institute of Experimental Physics and others) and universities from Belarus, Ukraine, Germany, USA, Belgium and Sweden. About 30 reports were made by young researchers, students and post-graduate students. All presentations during the conference were broadcasted online over the internet with viewers in Moscow, Prague, St. Petersburgh and other cities. The Conference was held within the framework of the Centre of Plasma, Laser Research and Technology supported by MEPhI Academic Excellence Project (Russian

  16. Evaluation of ovine abortion associated with Toxoplasma gondii in Spain by different diagnostic techniques.

    Science.gov (United States)

    Pereira-Bueno, J; Quintanilla-Gozalo, A; Pérez-Pérez, V; Alvarez-García, G; Collantes-Fernández, E; Ortega-Mora, L M

    2004-05-07

    A total of 173 aborted ovine foetuses and seven aborted caprine foetuses, submitted from different points of north and central Spain, were analysed to determine the role of T. gondii in abortion and to compare the utility of the most widely used techniques in diagnosis of the congenital infection (histopathology, serology--IFAT and ELISA--and a nested-PCR). Parasite infection was diagnosed in 40 (23.1%; n = 173) ovine foetuses by at least one of the diagnostic techniques used. A higher percentage of foetuses were diagnosed using serological techniques (IFAT and ELISA) (28.3%; n = 106) than by histologic examination (8.7%; n = 173) or PCR (6.9%; n = 173). No significant association between infection and the foetal age categories was found (P > 0.05). In this study, 106 aborted foetuses were analysed by all of the three diagnostic techniques. When we compared serological results, perfect agreement between ELISA and IFAT was obtained. On the contrary, slight to fair agreements were observed when histology results were compared with those obtained by serology and PCR techniques. All the positive foetuses were aborted in the mid (60%) or last (40%) term of pregnancy, but no significant differences were found between ages of the infected and non-infected foetuses (P > 0.05). This report indicates that toxoplasmosis may be a common cause of small ruminant abortion and neonatal death in Spain and points out the necessity of using different and complementary techniques to increase the probability of detecting Toxoplasma infection in an aborted foetus.

  17. Evidence-based medical research on diagnostic criteria and screening technique of vascular mild cognitive impairment

    Directory of Open Access Journals (Sweden)

    Xia-wei LIU

    2015-07-01

    Full Text Available Background Vascular mild cognitive impairment (VaMCI is the prodromal syndrome of vascular dementia (VaD and key target for drug treatment. There is controversy over the diagnostic criteria and screening tools of VaMCI, which affects its clinical diagnosis. This paper aims to explore the clinical features, diagnostic criteria and screening technique of VaMCI.  Methods Taking "vascular mild cognitive impairment OR vascular cognitive impairment no dementia" as retrieval terms, search in PubMed database from January 1997 to March 2015 and screen relevant literatures concerning VaMCI. According to Guidance for the Preparation of Neurological Management Guidelines revised by European Federation of Neurological Societies (EFNS in 2004, evidence grading was performed on literatures. Results A total of 32 literatures in English were selected according to inclusion and exclusion criteria, including 3 guidelines and consensus and 29 clinical studies. Seven literatures (2 on Level Ⅰ, 5 on Level Ⅱ studied on neuropsychological features in VaMCI patients and found reduced processing speed and executive function impairment were main features. Two literatures reported the diagnostic criteria of VaMCI, including VaMCI criteria published by American Heart Association (AHA/American Stroke Association (ASA in 2011 and "Diagnostic Criteria for Vascular Cognitive Disorders" published by International Society for Vascular Behavioral and Cognitive Disorders (VASCOG in 2014. Fifteen literatures (4 on LevelⅠ, 11 on Level Ⅱ described the diagnostic criteria of VaMCI used in clinical research, from which 6 operational diagnostic items were extracted. Fourteen literatures (4 on Level Ⅰ, 10 on Level Ⅱ described neuropsychological assessment tools for VaMCI screening, and found the 5-minute protocol recommended by National Institute of Neurological Disorders and Stroke-Canadian Stroke Network (NINDS-CSN was being good consistency with other neuropsychological

  18. Iterative reconstruction technique with reduced volume CT dose index: diagnostic accuracy in pediatric acute appendicitis

    Energy Technology Data Exchange (ETDEWEB)

    Didier, Ryne A. [Oregon Health and Science University, Department of Diagnostic Radiology, DC7R, Portland, OR (United States); Vajtai, Petra L. [Oregon Health and Science University, Department of Pediatrics, Portland, OR (United States); Oregon Health and Science University, Department of Diagnostic Radiology, DC7R, Portland, OR (United States); Hopkins, Katharine L. [Oregon Health and Science University, Department of Diagnostic Radiology, DC7R, Portland, OR (United States); Oregon Health and Science University, Department of Pediatrics, Portland, OR (United States)

    2014-07-05

    Iterative reconstruction technique has been proposed as a means of reducing patient radiation dose in pediatric CT. Yet, the effect of such reductions on diagnostic accuracy has not been thoroughly evaluated. This study compares accuracy of diagnosing pediatric acute appendicitis using contrast-enhanced abdominopelvic CT scans performed with traditional pediatric weight-based protocols and filtered back projection reconstruction vs. a filtered back projection/iterative reconstruction technique blend with reduced volume CT dose index (CTDI{sub vol}). Results of pediatric contrast-enhanced abdominopelvic CT scans done for pain and/or suspected appendicitis were reviewed in two groups: A, 192 scans performed with the hospital's established weight-based CT protocols and filtered back projection reconstruction; B, 194 scans performed with iterative reconstruction technique and reduced CTDI{sub vol}. Reduced CTDI{sub vol} was achieved primarily by reductions in effective tube current-time product (mAs{sub eff}) and tube peak kilovoltage (kVp). CT interpretation was correlated with clinical follow-up and/or surgical pathology. CTDI{sub vol}, size-specific dose estimates (SSDE) and performance characteristics of the two CT techniques were then compared. Between groups A and B, mean CTDI{sub vol} was reduced by 45%, and mean SSDE was reduced by 46%. Sensitivity, specificity and diagnostic accuracy were 96%, 97% and 96% in group A vs. 100%, 99% and 99% in group B. Accuracy in diagnosing pediatric acute appendicitis was maintained in contrast-enhanced abdominopelvic CT scans that incorporated iterative reconstruction technique, despite reductions in mean CTDI{sub vol} and SSDE by nearly half as compared to the hospital's traditional weight-based protocols. (orig.)

  19. Mycoplasma pneumoniae: Current knowledge on nucleic acid amplification techniques and serological diagnostics

    Directory of Open Access Journals (Sweden)

    Katherine eLoens

    2016-03-01

    Full Text Available Mycoplasma pneumoniae (M. pneumoniae belongs to the class Mollicutes and has been recognized as a common cause of respiratory tract infections (RTIs, including community-acquired pneumonia (CAP, that occur worldwide and in all age groups. In addition, M. pneumoniae can simultaneously or sequentially lead to damage in the nervous system and has been associated with a wide variety of other acute and chronic diseases. During the past 10 years, the proportion of LRTI in children and adults, associated with M. pneumoniae infection has ranged from 0% to more than 50%. This variation is due to the age and the geographic location of the population examined but also due to the diagnostic methods used. The true role of M. pneumoniae in RTIs remains a challenge given the many limitations and lack of standardization of the applied diagnostic tool in most cases, with resultant wide variations in data from different studies.Correct and rapid diagnosis and/or management of M. pneumoniae infections is, however, critical to initiate appropriate antibiotic treatment and is nowadays usually done by PCR and/or serology. Several recent reviews have summarized current methods for the detection and identification of M. pneumoniae. This review will therefore provide a look at the general principles, advantages, diagnostic value, and limitations of the most currently used detection techniques for the etiological diagnosis of a M. pneumoniae infection as they evolve from research to daily practice.

  20. Application of RNB for high sensitive wear diagnostics in medicine technique and industry

    Energy Technology Data Exchange (ETDEWEB)

    Fehsenfeld, P. E-mail: Peter.Fehsenfeld@hzy.fzk.de; Eifrig, C.; Kubat, R

    2002-04-22

    The RTM--Radionuclide Technique in Mechanical engineering--is now extended to the solution of world wide problems in medicine technique (prosthetics), and in development of modern materials (synthetic materials, ceramics, hard coatings, etc.) and their industrial application. RNB--Radioactive Nuclear Beams of {sup 7}Be or {sup 22}Na--may enable the required extreme thin radioactive surface labeling (several micrometers) of synthetic materials for wear measurements without producing radiation damages of influence to the wear properties of the material. The function principle and special properties of the RTM on-line wear diagnostics and its components, the measurement methods, the radioactive surface labeling, and the measurement instruments are explained. The quality features of a {sup 7}Be and {sup 22}Na-beam for RTM application are specified.

  1. Diagnostic procedures in tularaemia with special focus on molecular and immunological techniques.

    Science.gov (United States)

    Splettstoesser, W D; Tomaso, H; Al Dahouk, S; Neubauer, H; Schuff-Werner, P

    2005-08-01

    Tularaemia is a severe bacterial zoonosis caused by the highly infectious agent Francisella tularensis. It is endemic in countries of the northern hemisphere ranging from North America to Europe, Asia and Japan. Very recently, Francisella-like strains causing disease in humans were described from tropical northern Australia. In the last decade, efforts have been made to develop sensitive and specific immunological and molecular techniques for the laboratory diagnosis of tularaemia and also for the definite identification of members of the species F. tularensis and its four subspecies. Screening for the keyword 'Francisella' a Medline search over the last decade was performed and articles describing diagnostic methods for tularaemia and its causative agent were selected. Besides classical microbiological techniques (cultivation, biochemical profiling, susceptibility testing) several new immunological and molecular approaches to identify F. tularensis have been introduced employing highly specific antibodies and various polymerase chain reaction (PCR)-based methods. Whereas direct antigen detection by enzyme-linked immunosorbent assay (ELISA) or immunofluorescence might allow early presumptive diagnosis of tularaemia, these methods--like all PCR techniques--still await further evaluation. Therefore, diagnosis of tularaemia still relies mainly on the demonstration of specific antibodies in the host. ELISA and immunoblot methods started to replace the standard tube or micro-agglutination assays. However, the diagnostic value of antibody detection in the very early clinical phase of tularaemia is limited. Francisella tularensis is regarded as a 'highest priority' biological agent (category 'A' according to the CDC, Atlanta, GA, USA), thus rapid and reliable diagnosis of tularaemia is required not only for a timely onset of therapy, the handling of outbreak investigations but also for the surveillance of endemic foci. Only very recently, evaluated test kits for

  2. Mining for diagnostic information in body surface potential maps: A comparison of feature selection techniques

    Directory of Open Access Journals (Sweden)

    McCullagh Paul J

    2005-09-01

    Full Text Available Abstract Background In body surface potential mapping, increased spatial sampling is used to allow more accurate detection of a cardiac abnormality. Although diagnostically superior to more conventional electrocardiographic techniques, the perceived complexity of the Body Surface Potential Map (BSPM acquisition process has prohibited its acceptance in clinical practice. For this reason there is an interest in striking a compromise between the minimum number of electrocardiographic recording sites required to sample the maximum electrocardiographic information. Methods In the current study, several techniques widely used in the domains of data mining and knowledge discovery have been employed to mine for diagnostic information in 192 lead BSPMs. In particular, the Single Variable Classifier (SVC based filter and Sequential Forward Selection (SFS based wrapper approaches to feature selection have been implemented and evaluated. Using a set of recordings from 116 subjects, the diagnostic ability of subsets of 3, 6, 9, 12, 24 and 32 electrocardiographic recording sites have been evaluated based on their ability to correctly asses the presence or absence of Myocardial Infarction (MI. Results It was observed that the wrapper approach, using sequential forward selection and a 5 nearest neighbour classifier, was capable of choosing a set of 24 recording sites that could correctly classify 82.8% of BSPMs. Although the filter method performed slightly less favourably, the performance was comparable with a classification accuracy of 79.3%. In addition, experiments were conducted to show how (a features chosen using the wrapper approach were specific to the classifier used in the selection model, and (b lead subsets chosen were not necessarily unique. Conclusion It was concluded that both the filter and wrapper approaches adopted were suitable for guiding the choice of recording sites useful for determining the presence of MI. It should be noted however

  3. [Application of molecular diagnostic techniques in precision medicine of personalized treatment for colorectal cancer].

    Science.gov (United States)

    Fu, Ji; Lin, Guole

    2016-01-01

    Precision medicine is to customize the treatment options for individual patient based on the personal genome information. Colorectal cancer (CRC) is one of the most common cancer worldwide. Molecular heterogeneity of CRC, which includes the MSI phenotype, hypermutation phenotype, and their relationship with clinical preferences, is believed to be one of the main factors responsible for the considerable variability in treatment response. The development of powerful next-generation sequencing (NGS) technologies allows us to further understand the biological behavior of colorectal cancer, and to analyze the prognosis and chemotherapeutic drug reactions by molecular diagnostic techniques, which can guide the clinical treatment. This paper will introduce the new findings in this field. Meanwhile we integrate the new progress of key pathways including EGFR, RAS, PI3K/AKT and VEGF, and the experience in selective patients through associated molecular diagnostic screening who gain better efficacy after target therapy. The technique for detecting circulating tumor DNA (ctDNA) is introduced here as well, which can identify patients with high risk for recurrence, and demonstrate the risk of chemotherapy resistance. Mechanism of tumor drug resistance may be revealed by dynamic observation of gene alteration during treatment.

  4. A study on the fault diagnostic techniques for reactor internal structures using neutron noise analysis

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Tae Ryong; Jeong, Seong Ho; Park, Jin Ho; Park, Jin Suk [Korea Atomic Energy Research Institute, Taejon (Korea, Republic of)

    1994-08-01

    The unfavorable phenomena, such as flow induced vibration and aging process in reactor internals, cause degradation of structural integrity and may result in loosing some mechanical binding components which might impact other equipments and components or cause flow blockage. Since these malfunctions and potential failures change reactor noise signal, it is necessary to analyze reactor noise signal for early fault diagnosis in the point of few of safety and plant economics. The objectives of this study are to establish fault diagnostic and TS(thermal shield), and to develop a data acquisition and signal processing software system. In the first year of this study, an analysis technique for the reactor internal vibration using the reactor noise was proposed. With the technique proposed and the reactor noise signals (ex-core neutron and acceleration), the dynamic characteristics of Ulchin-1 reactor internals were obtained, and compared with those of Tricastin-1 which is the prototype of Ulchin-1. In the second year, a PC-based expert system for reactor internals fault diagnosis is developed, which included data acquisition, signal processing, feature extraction function, and represented diagnostic knowledge by the IF-THEN rule. To know the effect of the faults, the reactor internals of Ulchin-1 is modeled using FEM and simulated with an artificial defect given in the hold-down spring. Trend in the dynamic characteristics of reactor internals is also observed during one fuel cycle to know the effect of boron concentration. 100 figs, 7 tabs, 18 refs. (Author).

  5. Development of a 2D temperature measurement technique for combustion diagnostics using 2-line atomic fluorescence

    Energy Technology Data Exchange (ETDEWEB)

    Engstroem, Johan

    2001-01-01

    The present thesis is concerned with the development and application of a novel planar laser-induced fluorescence (PLIF) technique for temperature measurements in a variety of combusting flows. Accurate measurement of temperature is an essential task in combustion diagnostics, since temperature is one of the most fundamental quantities for the characterization of combustion processes. The technique is based on two-line atomic fluorescence (TLAF) from small quantities of atomic indium (In) seeded into the fuel. It has been developed from small-scale experiments in laboratory flames to the point where practical combustion systems can be studied. The technique is conceptually simple and reveals temperature information in the post-flame regions. The viability of the technique has been tested in three extreme measurement situations: in spark ignition engine combustion, in ultra-lean combustion situations such as lean burning aero-engine concepts and, finally, in fuel-rich combustion. TLAF was successfully applied in an optical Sl engine using isooctane as fuel. The wide temperature sensitivity, 700 - 3000 K, of the technique using indium atoms allowed measurements over the entire combustion cycle in the engine to be performed. In applications in lean combustion a potential problem caused by the strong oxidation processes of indium atoms was encountered. This limits measurement times due to deposits of absorbing indium oxide on measurement windows. The seeding requirement is a disadvantage of the technique and can be a limitation in some applications. The results from experiments performed in sooting flames are very promising for thermometry measurements in such environments. Absorption by hydrocarbons and other native species was found to be negligible. Since low laser energies and low seeding concentrations could be used, the technique did not, unlike most other incoherent optical thermometry techniques, suffer interferences from LII of soot particles or LIF from PAH

  6. 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…

  7. 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.

  8. Urine sampling techniques in symptomatic primary-care patients: a diagnostic accuracy review.

    Science.gov (United States)

    Holm, Anne; Aabenhus, Rune

    2016-06-08

    Choice of urine sampling technique in urinary tract infection may impact diagnostic accuracy and thus lead to possible over- or undertreatment. Currently no evidencebased consensus exists regarding correct sampling technique of urine from women with symptoms of urinary tract infection in primary care. The aim of this study was to determine the accuracy of urine culture from different sampling-techniques in symptomatic non-pregnant women in primary care. A systematic review was conducted by searching Medline and Embase for clinical studies conducted in primary care using a randomized or paired design to compare the result of urine culture obtained with two or more collection techniques in adult, female, non-pregnant patients with symptoms of urinary tract infection. We evaluated quality of the studies and compared accuracy based on dichotomized outcomes. We included seven studies investigating urine sampling technique in 1062 symptomatic patients in primary care. Mid-stream-clean-catch had a positive predictive value of 0.79 to 0.95 and a negative predictive value close to 1 compared to sterile techniques. Two randomized controlled trials found no difference in infection rate between mid-stream-clean-catch, mid-stream-urine and random samples. At present, no evidence suggests that sampling technique affects the accuracy of the microbiological diagnosis in non-pregnant women with symptoms of urinary tract infection in primary care. However, the evidence presented is in-direct and the difference between mid-stream-clean-catch, mid-stream-urine and random samples remains to be investigated in a paired design to verify the present findings.

  9. 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.

  10. 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.

  11. 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

  12. [The latex agglutination with video digital registration: the enhancement of diagnostic significance of conventional technique].

    Science.gov (United States)

    Starovoĭtova, T A; Steriopolo, N A; Zaĭko, V V; Vengerov, Iu Iu

    2012-02-01

    The rapid semiquantitative latex-tests, because of their analytic characteristics and convenient application, became widespread in the practice of laboratory diagnostics. Though, in spite of high sensitivity and specificity, their diagnostic effectiveness is lower that it could be mainly because of the impossibility to document the results of latex agglutinative re4actions and to manage the objective quality control. The application of systems of video digital registration permits to enhance the clinical significance of these analyses. By means of scanner systems (control and program complex "Expert Lab") the image of analytic objects is received with the results of latex agglutination reaction. The application of program techniques (the programs "Expert Lab - Agglutination" and "Expert Lab - Agglutination - Micros") in data processing permits to get the precise qualitative characteristics of active reactions, to ensure the automatic interpretation of results and gives an opportunity to proceed with the internal laboratory quality control. The saving of analytic object image in computer memory after termination of reaction favors the formation of data base, the implementation of retrospective evaluation of obtained results, additional consultations in dubious cases, including on-line. The application of complex "Expert Lab" permitted to develop the miniaturizes matrix systems permitting to decrease the withdrawal of latex reagents, to increase the productivity of analytical stage of operation preserving all analytical characteristics of method.

  13. A novel non-invasive diagnostic sampling technique for cutaneous leishmaniasis.

    Science.gov (United States)

    Taslimi, Yasaman; Sadeghipour, Pardis; Habibzadeh, Sima; Mashayekhi, Vahid; Mortazavi, Hossien; Müller, Ingrid; Lane, Majella E; Kropf, Pascale; Rafati, Sima

    2017-07-01

    Accurate diagnosis of cutaneous leishmaniasis (CL) is important for chemotherapy and epidemiological studies. Common approaches for Leishmania detection involve the invasive collection of specimens for direct identification of amastigotes by microscopy and the culturing of promastigotes from infected tissues. Although these techniques are highly specific, they require highly skilled health workers and have the inherent risks of all invasive procedures, such as pain and risk of bacterial and fungal super-infection. Therefore, it is essential to reduce discomfort, potential infection and scarring caused by invasive diagnostic approaches especially for children. In this report, we present a novel non-invasive method, that is painless, rapid and user-friendly, using sequential tape strips for sampling and isolation of DNA from the surface of active and healed skin lesions of CL patients. A total of 119 patients suspected of suffering from cutaneous leishmaniasis with different clinical manifestations were recruited and samples were collected both from their lesions and from uninfected areas. In addition, 15 fungal-infected lesions and 54 areas of healthy skin were examined. The duration of sampling is short (less than one minute) and species identification by PCR is highly specific and sensitive. The sequential tape stripping sampling method is a sensitive, non-invasive and cost-effective alternative to traditional diagnostic assays and it is suitable for field studies as well as for use in health care centers.

  14. Non-invasive diagnostic techniques in the diagnosis of squamous cell carcinoma.

    Science.gov (United States)

    Warszawik-Hendzel, Olga; Olszewska, Małgorzata; Maj, Małgorzata; Rakowska, Adriana; Czuwara, Joanna; Rudnicka, Lidia

    2015-12-31

    Squamous cell carcinoma is the second most common cutaneous malignancy after basal cell carcinoma. Although the gold standard of diagnosis for squamous cell carcinoma is biopsy followed by histopathology evaluation, optical non-invasive diagnostic tools have obtained increased attention. Dermoscopy has become one of the basic diagnostic methods in clinical practice. The most common dermoscopic features of squamous cell carcinoma include clustered vascular pattern, glomerular vessels and hyperkeratosis. Under reflectance confocal microscopy, squamous cell carcinoma shows an atypical honeycomb or disarranged pattern of the spinous-granular layer of the epidermis, round nucleated bright cells in the epidermis and round vessels in the dermis. High frequency ultrasound and optical coherence tomography may be helpful in predominantly in pre-surgical evaluation of tumor size. Emerging non-invasive or minimal invasive techniques with possible application in the diagnosis of squamous cell carcinoma of the skin, lip, oral mucosa, vulva or other tissues include high-definition optical coherence tomography, in vivo multiphoton tomography, direct oral microscopy, electrical impedance spectroscopy, fluorescence spectroscopy, Raman spectroscopy, elastic scattering spectroscopy, differential path-length spectroscopy, nuclear magnetic resonance spectroscopy, and angle-resolved low coherence interferometry.

  15. The diagnostic rules of peripheral lung cancer preliminary study based on data mining technique

    Institute of Scientific and Technical Information of China (English)

    Yongqian Qiang; Youmin Guo; Xue Li; Qiuping Wang; Hao Chen; Duwu Cui

    2007-01-01

    Objective: To discuss the clinical and imaging diagnostic rules of peripheral lung cancer by data mining technique, and to explore new ideas in the diagnosis of peripheral lung cancer, and to obtain early-stage technology and knowledge support of computer-aided detecting (CAD). Methods: 58 cases of peripheral lung cancer confirmed by clinical pathology were collected. The data were imported into the database after the standardization of the clinical and CT findings attributes were identified. The data was studied comparatively based on Association Rules (AR) of the knowledge discovery process and the Rough Set (RS) reduction algorithm and Genetic Algorithm(GA) of the generic data analysis tool (ROSETTA), respectively. Results: The genetic classification algorithm of ROSETTA generates 5 000 or so diagnosis rules. The RS reduction algorithm of Johnson's Algorithm generates 51 diagnosis rules and the AR algorithm generates 123 diagnosis rules. Three data mining methods basically consider gender, age,cough, location, lobulation sign, shape, ground-glass density attributes as the main basis for the diagnosis of peripheral lung cancer. Conclusion: These diagnosis rules for peripheral lung cancer with three data mining technology is same as clinical diagnostic rules, and these rules also can be used to build the knowledge base of expert system. This study demonstrated the potential values of data mining technology in clinical imaging diagnosis and differential diagnosis.

  16. 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.

  17. [Techniques and strategy of pathological sampling in the diagnostic and therapeutic management of lung cancer].

    Science.gov (United States)

    Remmelink, M; Sokolow, Y; Leduc, D

    2015-04-01

    Histopathology is key to the diagnosis and staging of lung cancer. This analysis requires tissue sampling from primary and/or metastatic lesions. The choice of sampling technique is intended to optimize diagnostic yield while avoiding unnecessarily invasive procedures. Recent developments in targeted therapy require increasingly precise histological and molecular characterization of the tumor. Therefore, pathologists must be economical with tissue samples to ensure that they have the opportunity to perform all the analyses required. More than ever, good communication between clinician, endoscopist or surgeon, and pathologist is essential. This is necessary to ensure that all participants in the process of lung cancer diagnosis collaborate to ensure that the appropriate number and type of biopsies are performed with the appropriate tissue sampling treatment. This will allow performance of all the necessary analyses leading to a more precise characterization of the tumor, and thus the optimal treatment for patients with lung cancer. Copyright © 2015 SPLF. Published by Elsevier Masson SAS. All rights reserved.

  18. Piriformis syndrome: implications of anatomical variations, diagnostic techniques, and treatment options.

    Science.gov (United States)

    Cassidy, Lindsey; Walters, Andrew; Bubb, Kathleen; Shoja, Mohammadali M; Tubbs, R Shane; Loukas, Marios

    2012-08-01

    Details of piriformis syndrome, including the proper diagnosis and most effective form of treatment, continue to be controversial. While the cause, diagnosis, and treatment of piriformis syndrome remain elusive, many studies have been conducted to investigate newly developed diagnostic techniques as well as various treatment options for piriformis-induced sciatica. Despite the quantity of literature, few studies have demonstrated statistically significant results that support one form of treatment over another. Thus, despite the evidence supporting the newer treatment methodologies for piriformis syndrome, research should continue. It is important not only to evaluate treatment outcomes based on associated pain relief, but also to investigate the functional and anatomical return that patients experience from these studied treatments in order to fully explore the most effective form of therapy for piriformis syndrome.

  19. New Diagnostic, Launch and Model Control Techniques in the NASA Ames HFFAF Ballistic Range

    Science.gov (United States)

    Bogdanoff, David W.

    2012-01-01

    This report presents new diagnostic, launch and model control techniques used in the NASA Ames HFFAF ballistic range. High speed movies were used to view the sabot separation process and the passage of the model through the model splap paper. Cavities in the rear of the sabot, to catch the muzzle blast of the gun, were used to control sabot finger separation angles and distances. Inserts were installed in the powder chamber to greatly reduce the ullage volume (empty space) in the chamber. This resulted in much more complete and repeatable combustion of the powder and hence, in much more repeatable muzzle velocities. Sheets of paper or cardstock, impacting one half of the model, were used to control the amplitudes of the model pitch oscillations.

  20. Computer Aided Diagnostic Support System for Skin Cancer: A Review of Techniques and Algorithms

    Science.gov (United States)

    Masood, Ammara; Al-Jumaily, Adel Ali

    2013-01-01

    Image-based computer aided diagnosis systems have significant potential for screening and early detection of malignant melanoma. We review the state of the art in these systems and examine current practices, problems, and prospects of image acquisition, pre-processing, segmentation, feature extraction and selection, and classification of dermoscopic images. This paper reports statistics and results from the most important implementations reported to date. We compared the performance of several classifiers specifically developed for skin lesion diagnosis and discussed the corresponding findings. Whenever available, indication of various conditions that affect the technique's performance is reported. We suggest a framework for comparative assessment of skin cancer diagnostic models and review the results based on these models. The deficiencies in some of the existing studies are highlighted and suggestions for future research are provided. PMID:24575126

  1. Reducing beam shaper alignment complexity: diagnostic techniques for alignment and tuning

    Science.gov (United States)

    Lizotte, Todd E.

    2011-10-01

    Safe and efficient optical alignment is a critical requirement for industrial laser systems used in a high volume manufacturing environment. Of specific interest is the development of techniques to align beam shaping optics within a beam line; having the ability to instantly verify by a qualitative means that each element is in its proper position as the beam shaper module is being aligned. There is a need to reduce these types of alignment techniques down to a level where even a newbie to optical alignment will be able to complete the task. Couple this alignment need with the fact that most laser system manufacturers ship their products worldwide and the introduction of a new set of variables including cultural and language barriers, makes this a top priority for manufacturers. Tools and methodologies for alignment of complex optical systems need to be able to cross these barriers to ensure the highest degree of up time and reduce the cost of maintenance on the production floor. Customers worldwide, who purchase production laser equipment, understand that the majority of costs to a manufacturing facility is spent on system maintenance and is typically the largest single controllable expenditure in a production plant. This desire to reduce costs is driving the trend these days towards predictive and proactive, not reactive maintenance of laser based optical beam delivery systems [10]. With proper diagnostic tools, laser system developers can develop proactive approaches to reduce system down time, safe guard operational performance and reduce premature or catastrophic optics failures. Obviously analytical data will provide quantifiable performance standards which are more precise than qualitative standards, but each have a role in determining overall optical system performance [10]. This paper will discuss the use of film and fluorescent mirror devices as diagnostic tools for beam shaper module alignment off line or in-situ. The paper will also provide an overview

  2. NON-INVASIVE PRENATAL DIAGNOSIS: A REVIEW

    Directory of Open Access Journals (Sweden)

    Madhusudan Dey, Sumita Agarwal and Sumedha Sharma

    2013-04-01

    Full Text Available ABSTRACT: Aneuploidies are one of the important causes of perinatal morbidity and mortality. 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. Recently, various methods including non-invasive prenatal testing (NIPT by analysis of cell-free fetal DNA (cffDNA in maternal blood has shown promise for highly accurate detection of common fetal autosomal trisomies. Incorporating these new non-invasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counselling plays an integral role. The advantage of the technique being elimination of risks such as miscarriage associated with invasive diagnostic procedures. But then this new technique has its own set of technical limitations and ethical issues at present and further research is required before implementation. Data was obtained through a literature search via Pubmed and Google as well as detailed search of our library database.

  3. The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing: a randomised controlled trial.

    Science.gov (United States)

    Beulen, Lean; van den Berg, Michelle; Faas, Brigitte Hw; Feenstra, Ilse; Hageman, Michiel; van Vugt, John Mg; Bekker, Mireille N

    2016-10-01

    Early in pregnancy women and their partners face the complex decision on whether or not to participate in prenatal testing for fetal chromosomal abnormalities. Several studies show that the majority of pregnant women currently do not make informed decisions regarding prenatal testing. As the range of prenatal tests is expanding due to the development of new techniques such as non-invasive prenatal testing (NIPT), autonomous reproductive decision-making is increasingly challenging. In this study, a randomised controlled trial was conducted to evaluate the effect of a web-based multimedia decision aid on decision-making regarding prenatal testing. The decision aid provided both written and audiovisual information on prenatal tests currently available, that is, prenatal screening by first-trimester combined testing, NIPT and invasive diagnostic testing through chorionic villus sampling or amniocentesis. Furthermore, it contained values clarification exercises encouraging pregnant women to reflect on the potential harms and benefits of having prenatal tests performed. The use of the decision aid improved informed decision-making regarding prenatal testing. Of pregnant women allocated to the intervention group (n=130) 82.3% made an informed choice compared with 66.4% of women in the control group (n=131), P=0.004. As the vast majority of pregnant women made decisions consistent with their attitudes towards having prenatal testing performed, this improvement in informed decision-making could be attributed mainly to an increase in decision-relevant knowledge. This study shows that the implementation of a web-based multimedia decision aid directly facilitates the ultimate goal of prenatal testing for fetal chromosomal abnormalities, which is enabling informed autonomous reproductive choice.

  4. Sportsmen’s Groin—Diagnostic Approach and Treatment With the Minimal Repair Technique

    Science.gov (United States)

    Muschaweck, Ulrike; Berger, Luise Masami

    2010-01-01

    Context: Sportsmen’s groin, also called sports hernia and Gilmore groin, is one of the most frequent sports injuries in athletes and may place an athletic career at risk. It presents with acute or chronic groin pain exacerbated with physical activity. So far, there is little consensus regarding pathogenesis, diagnostic criteria, or treatment. There have been various attempts to explain the cause of the groin pain. The assumption is that a circumscribed weakness in the posterior wall of the inguinal canal, which leads to a localized bulge, induces a compression of the genital branch of the genitofemoral nerve, considered responsible for the symptoms. Methods: The authors developed an innovative open suture repair—the Minimal Repair technique—to fit the needs of professional athletes. With this technique, the circumscribed weakness of the posterior wall of the inguinal canal is repaired by an elastic suture; the compression on the nerve is abolished, and the cause of the pain is removed. In contrast with that of common open suture repairs, the defect of the posterior wall is not enlarged, the suture is nearly tension free, and the patient can return to full training and athletic activity within a shorter time. The outcome of patients undergoing operations with the Minimal Repair technique was compared with that of commonly used surgical procedures. Results: The following advantages of the Minimal Repair technique were found: no insertion of prosthetic mesh, no general anesthesia required, less traumatization, and lower risk of severe complications with equal or even faster convalescence. In 2009, a prospective cohort of 129 patients resumed training in 7 days and experienced complete pain relief in an average of 14 days. Professional athletes (67%) returned to full activity in 14 days (median). Conclusion: The Minimal Repair technique is an effective and safe way to treat sportsmen’s groin. PMID:23015941

  5. Infrared Thermography-based Biophotonics: Integrated Diagnostic Technique for Systemic Reaction Monitoring

    Science.gov (United States)

    Vainer, Boris G.; Morozov, Vitaly V.

    A peculiar branch of biophotonics is a measurement, visualisation and quantitative analysis of infrared (IR) radiation emitted from living object surfaces. Focal plane array (FPA)-based IR cameras make it possible to realize in medicine the so called interventional infrared thermal diagnostics. An integrated technique aimed at the advancement of this new approach in biomedical science and practice is described in the paper. The assembled system includes a high-performance short-wave (2.45-3.05 μm) or long-wave (8-14 μm) IR camera, two laser Doppler flowmeters (LDF) and additional equipment and complementary facilities implementing the monitoring of human cardiovascular status. All these means operate synchronously. It is first ascertained the relationship between infrared thermography (IRT) and LDF data in humans in regard to their systemic cardiovascular reactivity. Blood supply real-time dynamics in a narcotized patient is first visualized and quantitatively represented during surgery in order to observe how the general hyperoxia influences thermoregulatory mechanisms; an abrupt increase in temperature of the upper limb is observed using IRT. It is outlined that the IRT-based integrated technique may act as a take-off runway leading to elaboration of informative new methods directly applicable to medicine and biomedical sciences.

  6. Probability-Based Diagnostic Imaging Technique Using Error Functions for Active Structural Health Monitoring

    Directory of Open Access Journals (Sweden)

    Rahim Gorgin,

    2014-07-01

    Full Text Available This study presents a novel probability-based diagnostic imaging (PDI technique using error functions for active structural health monitoring (SHM. To achieve this, first the changes between baseline and current signals of each sensing path are measured, and by taking the root mean square of such changes, the energy of the scattered signal at different times can be calculated. Then, for different pairs of signal acquisition paths, an error function based on the energy of the scattered signals is introduced. Finally, the resultant error function is fused to the final estimation of the probability of damage presence in the monitoring area. As for applications, developed methods were employed to various damage identification cases, including cracks located in regions among an active sensor network with different configurations (pulse-echo and pitch-catch, and holes located in regions outside active network sensors with pitch-catch configuration. The results identified using experimental Lamb wave signals at different central frequencies corroborated that the developed PDI technique using error functions is capable of monitoring structural damage, regardless of its shape, size and location. The developed method doesn’t need direct interpretation of overlaid and dispersed lamb wave components for damage identification and can monitor damage located anywhere in the structure. These bright advantages, qualify the above presented PDI method for online structural health monitoring.

  7. Extending battery life: A low-cost practical diagnostic technique for lithium-ion batteries

    Science.gov (United States)

    Merla, Yu; Wu, Billy; Yufit, Vladimir; Brandon, Nigel P.; Martinez-Botas, Ricardo F.; Offer, Gregory J.

    2016-11-01

    Modern applications of lithium-ion batteries such as smartphones, hybrid & electric vehicles and grid scale electricity storage demand long lifetime and high performance which typically makes them the limiting factor in a system. Understanding the state-of-health during operation is important in order to optimise for long term durability and performance. However, this requires accurate in-operando diagnostic techniques that are cost effective and practical. We present a novel diagnosis method based upon differential thermal voltammetry demonstrated on a battery pack made from commercial lithium-ion cells where one cell was deliberately aged prior to experiment. The cells were in parallel whilst being thermally managed with forced air convection. We show for the first time, a diagnosis method capable of quantitatively determining the state-of-health of four cells simultaneously by only using temperature and voltage readings for both charge and discharge. Measurements are achieved using low-cost thermocouples and a single voltage measurement at a frequency of 1 Hz, demonstrating the feasibility of implementing this approach on real world battery management systems. The technique could be particularly useful under charge when constant current or constant power is common, this therefore should be of significant interest to all lithium-ion battery users.

  8. Imaging mammary diagnostics. Diagnostic techniques, archetypical findings, differential diagnostcs and interventions.. 2. rev. and enl. ed.; Bildgebende Mammadiagnostik. Untersuchungstechnik, Befundmuster, Differenzialdiagnose und Interventionen. Kartonierte Sonderausgabe

    Energy Technology Data Exchange (ETDEWEB)

    Heywang-Koebrunner, S. [Martin-Luther-Univ., Halle-Wittenberg (Germany). Klinik fuer Diagnostische Radiologie; Schreer, I. (eds.) [Mamma-Zentrum des UK Kiel (Germany). Klinik fuer Geburtshilfe und Gynaekologie

    2008-07-01

    The book includes the following chapters: I. Methodology: anamnesis and interview; clinical evidence, mammography, sonography, magnetic resonance tomography, new imaging techniques (scintigraphy, PET), transcutaneous biopsy, pre-operative marking; II. phenotypes: normal mammary glands, mastopathics, cysts, benign tumors, inflammatory diseases, in-situ carcinomas, invasive carcinomas, lymphomas, other semi-malign and malign tumors, post-traumatic, post-surgical and post-therapeutic changes, skin changes, male mamma, screening, continuative diagnostics of screening evidence and problem solving for symptomatic patients.

  9. Epidemiology of intestinal parasitosis in Italy between 2005 and 2008: diagnostic techniques and methodologies

    Directory of Open Access Journals (Sweden)

    Daniele Crotti

    2013-04-01

    Full Text Available Aim of the study was to keep a real and actual photo relating to 2005-2008 regarding to diagnostic techniques and methodologies for intestinal parasites; so it would be possible to know specific epidemiology and suggest more rational and efficacious guide-lines. All members of AMCLI were involved in the proposal of a retrospective study regarding bowel parasites, helminths and protozoa.To engaged laboratories we asked how O&P was performed, if a specifical research for E. vermicularis and S. stercoralis was performed, if for the identification of D. fragilis, Entamoeba histolytica/dispar and Cryptosporidum spp were performed recommended specific permanent stains. 23 laboratories gave assent; but for an inferior number was possible to use the data for analysis and evaluation. Relating O&P only some laboratories performed permanent stains: Giemsa for D. fragilis, antigen and/or Trichrome stain for E. histolytica/dispar, antigen and/or acid fast stain for Cryptosporidium spp.Not all laboratories research specifically S. stercoralis. So the epidemiology is differentiated and related more to adequate or not adequate techniques than cohorts of examined populations. The overall positivity for parasites ranged from 0% to18.7%,for protozoa (pathogens or not were from 0% to 14.7%; for nematodes from 0% to 3.7%; for cestodes from 0% to 1.0%; for trematodes from 0% to 1.0%.Among helminths, E. vermicularis, followed by S. stercoralis, also in O&P, is the most frequent.The specific research of S. stercoralis gave a positivity from 0% to 33.3%; the cellophane tape test was positive for E. vermicularis from 0% fo 21.9% of cases.Among pathogen protozoa, D. fragilis, when permanent stain were applied, prevailed from 0% to 16.6%; G. duodenalis from 0.8% to 4.3%; E. histolytica/dispar, using a permanent stain or research of antigen, was identified from 0% to 20.6%. Coccidia were very rare, with Cryptosporidium spp observed from 0% to 5.2%. These are our conclusions

  10. 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.

  11. Current practices of diagnostic techniques requiring the use of ophthalmic drugs among KwaZulu- Natal optometrists*

    Directory of Open Access Journals (Sweden)

    K. P. Mashige

    2009-12-01

    Full Text Available In anendeavour to improve the quality of optometric eye care services in South Africa, the scope of practice was expanded to include the use of ocular diagnostic procedures such as gonioscopy that require the use of ophthalmic drugs. The purpose of this study was to assess the practices of specific diagnostic techniques (contact tonometry, 78 D/90 D lens fundus examination, binocular indirect ophthalmoscopy and gonioscopy requiring the use of ophthalmic drugs among optometrists in KwaZulu-Natal (KZN province. These specific techniques are referred to as diagnostic procedures in this article. A questionnaire containing information on demography and practice of these specific techniques was sent to all 213 KwaZulu-Natal registered optometrists who owned private practices. One hundred and thirty two completed questionnaires were received, a response rate of 62%. One hundred and seventeen (55% of the questionnaires were included in the analysis of which 55% of the respondents were females and 45% were males. Sixty two optometrists (53% were certified in di-agnostic procedures but many procedures were not being practiced. These procedures and the percentage respondents were: Contact tonometry (60%, 78 D/90 D lens fundus examination (60%, binocular indirect ophthalmoscopy (84% and gonioscopy (78%. Also, among these certified respondents (62 optometrists, a significant proportion (60% disagreed when asked if they were confident and proficient in performing the relevant diagnostic procedures. Many, (61% agreed that lack of incentives discouraged them from routinely performing the procedures. More than half (58%, agreed that chair time was an important factor in deciding whether or not to perform these diagnostic procedures. Of the total respondents (117, 86% agreed that they were confident about the accuracy of their referrals and less than half (45% disagreed that diagnostic procedures should be the sole responsibility of ophthalmologists. Less than

  12. Diagnostic value of the lfuoroscopic triggering 3D LAVA technique for primary liver cancer

    Institute of Scientific and Technical Information of China (English)

    Xiao-Yong Shen; Chun-Hua Chai; Wen-Bo Xiao; Qi-Dong Wang

    2010-01-01

    BACKGROUND: Primary liver cancer (PLC) is one of the common malignant tumors. Liver acquisition with acceleration volume acquisition (LAVA), which allows simultaneous dynamic enhancement of the hepatic parenchyma and vascu-lature imaging, is of great help in the diagnosis of PLC. This study aimed to evaluate application of the lfuoroscopic triggering 3D LAVA technique in the imaging of PLC and liver vasculature. METHODS: The clinical data and imaging ifndings of 38 adults with PLC (22 men and 16 women;average age 52 years), pathologically conifrmed by surgical resection or biopsy, were collected and analyzed. All magnetic resonance images were obtained with a 1.5-T system (General Electrics Medical Systems) with an eight-element body array coil and application of the lfuoroscopic triggering 3D LAVA technique. Overall image quality was assessed on a 5-point scale by two experienced radiologists. All the nodules and blood vessel were recorded and compared. The diagnostic accuracy and feasibility of LAVA were evaluated. RESULTS: Thirty-eight patients gave high quality images of 72 nodules in the liver for diagnosis. The accuracy of LAVA was 97.2% (70/72), and the coincidence rate between the extent of tumor judged by dynamic enhancement and pathological examination was 87.5%(63/72). Displayed by the maximum intensity projection reconstruction, nearly all cases gave satisfactory images of branchesⅢandⅣof the hepatic artery. Furthermore, small early-stage enhancing hepatic lesions and the parallel portal vein were also well displayed. CONCLUSIONS: Sequence of LAVA provides good multi-phase dynamic enhancement scanning of hepatic lesions. Combined with conventional scanning technology, LAVA effectively and safely displays focal hepatic lesions and the relationship between tumor and normal tissues, especially blood vessels.

  13. Kinetic and Diagnostic Studies of Molecular Plasmas Using Laser Absorption Techniques

    Energy Technology Data Exchange (ETDEWEB)

    Welzel, S [INP-Greifswald, 17489 Greifswald, Felix-Hausdorff-Str. 2 (Germany); Rousseau, A [Laboratoire de Physique et Technologie des Plasmas, Ecole Polytechnique, CNRS, 91128 Palaiseau (France); Davies, P B [Department of Chemistry, University of Cambridge, Lensfield Road, Cambridge CB2 1EW (United Kingdom); Roepcke, J [INP-Greifswald, 17489 Greifswald, Felix-Hausdorff-Str. 2 (Germany)

    2007-10-15

    Within the last decade mid infrared absorption spectroscopy between 3 and 20 {mu}m, known as Infrared Laser Absorption Spectroscopy (IRLAS) and based on tuneable semiconductor lasers, namely lead salt diode lasers, often called tuneable diode lasers (TDL), and quantum cascade lasers (QCL) has progressed considerably as a powerful diagnostic technique for in situ studies of the fundamental physics and chemistry of molecular plasmas. The increasing interest in processing plasmas containing hydrocarbons, fluorocarbons, organo-silicon and boron compounds has lead to further applications of IRLAS because most of these compounds and their decomposition products are infrared active. IRLAS provides a means of determining the absolute concentrations of the ground states of stable and transient molecular species, which is of particular importance for the investigation of reaction kinetics. Information about gas temperature and population densities can also be derived from IRLAS measurements. A variety of free radicals and molecular ions have been detected, especially using TDLs. Since plasmas with molecular feed gases are used in many applications such as thin film deposition, semiconductor processing, surface activation and cleaning, and materials and waste treatment, this has stimulated the adaptation of infrared spectroscopic techniques to industrial requirements. The recent development of QCLs offers an attractive new option for the monitoring and control of industrial plasma processes as well as for highly time-resolved studies on the kinetics of plasma processes. The aim of the present article is threefold: (i) to review recent achievements in our understanding of molecular phenomena in plasmas (ii) to report on selected studies of the spectroscopic properties and kinetic behaviour of radicals, and (iii) to describe the current status of advanced instrumentation for TDLAS in the mid infrared.

  14. Mini-FLOTAC, an innovative direct diagnostic technique for intestinal parasitic infections: experience from the field.

    Directory of Open Access Journals (Sweden)

    Beatrice Divina Barda

    Full Text Available BACKGROUND: Soil-transmitted helminths and intestinal protozoa infection are widespread in developing countries, yet an accurate diagnosis is rarely performed. The aim of this study was to evaluate the recently developed mini-FLOTAC method and to compare with currently more widely used techniques for the diagnosis of intestinal parasitic infections in different settings. METHODOLOGY/PRINCIPAL FINDINGS: The study was carried out in Dharamsala, Himachal Pradesh, India, and in Bukumbi, Tanzania. A total of 180 pupils from two primary schools had their stool analyzed (n = 80 in Dharamsala and n = 100 in Bukumbi for intestinal parasitic infections with three diagnostic methods: direct fecal smear, formol-ether concentration method (FECM and mini-FLOTAC. Overall, 72% of the pupils were positive for any intestinal parasitic infection, 24% carried dual infections and 11% three infections or more. The most frequently encountered intestinal parasites were Entamoeba coli, Entamoeba histolytica/dispar, Giardia intestinalis, hookworm, (and Schistosoma mansoni, in Tanzania. Statistically significant differences were found in the detection of parasitic infections among the three methods: mini-FLOTAC was the most sensitive method for helminth infections (90% mini-FLOTAC, 60% FECM, and 30% direct fecal smear, whereas FECM was most sensitive for intestinal protozoa infections (88% FECM, 70% direct fecal smear, and 68% mini-FLOTAC. CONCLUSION/SIGNIFICANCE: We present the first experiences with the mini-FLOTAC for the diagnosis of intestinal helminths and protozoa. Our results suggest that it is a valid, sensitive and potentially low-cost alternative technique that could be used in resource-limited settings--particularly for helminth diagnosis.

  15. The development of malaria diagnostic techniques: a review of the approaches with focus on dielectrophoretic and magnetophoretic methods.

    Science.gov (United States)

    Kasetsirikul, Surasak; Buranapong, Jirayut; Srituravanich, Werayut; Kaewthamasorn, Morakot; Pimpin, Alongkorn

    2016-07-12

    The large number of deaths caused by malaria each year has increased interest in the development of effective malaria diagnoses. At the early-stage of infection, patients show non-specific symptoms or are asymptomatic, which makes it difficult for clinical diagnosis, especially in non-endemic areas. Alternative diagnostic methods that are timely and effective are required to identify infections, particularly in field settings. This article reviews conventional malaria diagnostic methods together with recently developed techniques for both malaria detection and infected erythrocyte separation. Although many alternative techniques have recently been proposed and studied, dielectrophoretic and magnetophoretic approaches are among the promising new techniques due to their high specificity for malaria parasite-infected red blood cells. The two approaches are discussed in detail, including their principles, types, applications and limitations. In addition, other recently developed techniques, such as cell deformability and morphology, are also overviewed in this article.

  16. Diagnostic technique of pine wood nematode disease based on THz spectrum

    Science.gov (United States)

    Liu, Yunfei; Tan, Jiajin; Jiang, Liang; Shi, Shengcai; Jin, Biaobing; Ma, Jinlong

    2008-12-01

    Pine wood nematode disease, namely pine wilt disease, is caused by the invasion of Bursaphelenchus xylophilus (Bx) into pines. Once susceptible pines are infected by the nematode, the disease develops rapidly, the infected pines cease to exude oleoresin and die quickly. Hence it is called pine cancer. Given the fact that there are still no good methods in diagnosing the disease, here we propose to study the spectroscopic characteristics of pine wood nematode and diseased pine wood in the THz regime in order to look for a rapid spectroscopic discrimination method for the disease. Firstly, we measure the transmittances of a Bx sample, a B. mucronatus (Bm) sample, a healthy Pinus massoniana wood sample and a diseased P. massoniana wood sample by a superconducting heterodyne mixer at 500 GHz. And their characteristics are compared. Secondly, we measure the transmission characteristics of a Bx sample and a Bm sample by terahertz time domain spectroscopy (THz-TDS). The measured time domain spectrums and corresponding frequency domain spectrums are compared to distinguish them from their absorption characteristics. Thirdly, we measure the transmission characteristics of a healthy P. massoniana wood sample and a diseased P. massoniana wood sample by THz TDS and compare their difference in THz absorption spectrum and diffraction dispersive spectrum to confirm the effect of Bx on P. massoniana by the absorption coefficient and refractive index. Some discussions are given for future development of the diagnostic technique of pine wood nematode disease based on THz spectrum.

  17. Characterisation of the properties of a negative hydrogen ion beam by several beam diagnostic techniques

    Science.gov (United States)

    Maurizio, R.; Fantz, U.; Bonomo, F.; Serianni, G.

    2016-06-01

    The beam properties of the BATMAN negative ion source, which is the prototype of one module of the source for the ITER neutral beam injection system, are characterised by means of three diagnostic techniques: beam emission spectroscopy (BES), the experimental calorimeter mini-STRIKE and a copper calorimeter. The main beam parameters—beam divergence, homogeneity and top-bottom asymmetries—are studied in different operational scenarios: with different magnetic filter field setups, source settings and with different gases (hydrogen or deuterium). Among all dependences, the influence of the magnetic field configuration on the beam and the evolution of the beam features during some conditioning days are investigated in detail. Data show that the stronger the filter field in the beam region, the higher the beam top-bottom asymmetry—likely a v× B effect. During the conditioning of the source, such vertical beam asymmetry increases as well, suggesting an inhomogeneous H -production at the first grid of the extraction system.

  18. Spiral CT during pharmacoangiography with angiotensin II in patients with pancreatic disease. Technique and diagnostic efficacy

    Energy Technology Data Exchange (ETDEWEB)

    Kuroda, C.; Mihara, N.; Hosomi, N.; Inoue, E.; Fujita, M. [Osaka Medical Center for Cancer and Cardiovascular Diseases (Japan). Dept. of Diagnostic Radiology; Ohigashi, H.; Ishikawa, O. [Osaka Medical Center for Cancer and Cardiovascular Diseases (Japan). Dept. of Surgery; Nakaizumi, A. [Osaka Medical Center for Cancer and Cardiovascular Deseases (Japan). Dept. of Internal Medicine; Ishiguro, S. [Osaka Medical Center for Cancer and Cardiovascular Diseases (Japan). Dept. of Pathology

    1998-03-01

    Purpose: To compare the diagnostic efficacy of pancreatic pharmacoangiographic CT using angiotensin II with conventional angiographic CT. Material and Methods: Eighteen patients with space-occupying pancreatic disease were examined in this study. Pharmacoangiographic CT was performed with a 1-3-{mu}/6-ml solution of angiotensin II injected through a catheter into the celiac artery during spiral CT. Results: In 17 of the 18 (94%) patients, the area of pancreatic parenchymal enhancement was the same or larger at pharmacoangiographic CT than at conventional angiographic CT. The attenuation value of the pancreatic parenchyma was significantly increased at pharmacoangiographic CT (p=0.0010). Although the attenuation value of tumors was also increased on images obtained after the injection of angiotensin II, the tumor-to-pancreas contrast was significantly greater at pharmacoangiographic CT (p=0.0479). The mean differences in attenuation between tumor and pancreas at angiographic CT with and without angiotensin II were respectively 182 HU and 115 HU. Conclusion: Pharmacoangiographic CT with angiotensin II proved superior to conventional angiographic CT in the diagnosis of pancreatic disease. We therefore recommend it as a supplementary technique at the angiographic examination of patients with suspected pancreatic tumor. (orig.).

  19. Fungal disease detection in plants: Traditional assays, novel diagnostic techniques and biosensors.

    Science.gov (United States)

    Ray, Monalisa; Ray, Asit; Dash, Swagatika; Mishra, Abtar; Achary, K Gopinath; Nayak, Sanghamitra; Singh, Shikha

    2017-01-15

    Fungal diseases in commercially important plants results in a significant reduction in both quality and yield, often leading to the loss of an entire plant. In order to minimize the losses, it is essential to detect and identify the pathogens at an early stage. Early detection and accurate identification of pathogens can control the spread of infection. The present article provides a comprehensive overview of conventional methods, current trends and advances in fungal pathogen detection with an emphasis on biosensors. Traditional techniques are the "gold standard" in fungal detection which relies on symptoms, culture-based, morphological observation and biochemical identifications. In recent times, with the advancement of biotechnology, molecular and immunological approaches have revolutionized fungal disease detection. But the drawback lies in the fact that these methods require specific and expensive equipments. Thus, there is an urgent need for rapid, reliable, sensitive, cost effective and easy to use diagnostic methods for fungal pathogen detection. Biosensors would become a promising and attractive alternative, but they still have to be subjected to some modifications, improvements and proper validation for on-field use. Copyright © 2016 Elsevier B.V. All rights reserved.

  20. 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.

  1. 全染色体涂染探针FISH技术在AIH产前诊断唐氏综合征的应用%Application of FISH technique with whole chromosome probe for prenatal diagnosis of Downs syndrome after AIH

    Institute of Scientific and Technical Information of China (English)

    刘新雄; 梁荣伟; 符可鹏; 陈哲; 孙雷; 翁勋锦

    2012-01-01

    Objective; To explore the application value of fluorescence in situ hybridization ( FISH) by using self - designed human whole chromosome 21 special DNA probe for prenatal diagnosis of Downs syndrome after artificial insemination by husband (AIH) . Methods; FISH of uncultured amniotic fluid cells abstracted from pregnant women of 16 - 26 gestational weeks after AIH treatment was performed with self - designed human whole chromosome 21 special DNA probe, routine cell culture and chromosomal karyotype analysis were conducted at the same time, and the results of the two methods were compared. Results; The result of FISH was obtained within 24 hours, one child with trisomy 21 and one child with triple X syndrome were found. The coincidence rate of self - designed human whole chromosome 21 special DNA probe for detection of chromosome 21 in uncultured amniotic fluid cells was as high as 99.42% , no abnormal FISH result was found in the patients whose chromosomal karyotype was 47, XXX. The detection results were identical with the results of chromosomal karyotype analysis and follow - up. Conclusion; FISH technique with self - designed human whole chromosome 21 special DNA probe has the advantages of speediness and accuracy, which can quicken the diagnostic time, FISH technique has good application value for the high risk pregnant women after successful AIH in the prenatal diagnosis of Downs syndrome.%目的:探讨应用自制的人21号全染色体特异DNA涂染探针FISH技术在AIH产前诊断唐氏综合征的应用价值.方法:对经AIH治疗成功受孕的妊娠16 ~26周孕妇抽取的未培养羊水细胞采用已制备的人21号全染色体特异DNA涂染探针进行荧光原位杂交,同时进行常规细胞培养及染色体核型分析,并比较两种检测方法的结果.结果:自制探针FISH检测均于24h内出结果,检测出患儿2例,其中1例为标准21三体,1例为X三体.自制的人21号全染色体特异DNA涂染探针

  2. Current practices of diagnostic techniques requir- ing the use of ophthalmic drugs among KwaZulu- Natal optometrists*

    Directory of Open Access Journals (Sweden)

    K. P. Mashige

    2009-12-01

    Full Text Available In anendeavour to improve the quality of optometric eye care services in South Africa, the scope of practice was expanded to include the use of ocular diagnostic procedures such as goniosco-py that require the use of ophthalmic drugs. The purpose of this study was to assess the practices of specific diagnostic techniques (contact tonometry, 78 D/90 D lens fundus examination, binocular indirect ophthalmoscopy and gonioscopy requiring the use of ophthalmic drugs among optometrists in KwaZulu-Natal (KZN province. These specific techniques are referred to as diagnostic procedures in this article. A questionnaire containing information on demography and practice of these specific techniques was sent to all 213 KwaZulu-Natal registered optometrists who owned private practices. One hundred and thirty two completed questionnaires were received, a response rate of 62%. One hundred and seventeen (55% of the questionnaires were included in the analysis of which 55% of the respondents were females and 45% were males. Sixty two optometrists (53% were certified in di-agnostic procedures but many procedures were not being practiced. These procedures and the percentage respondents were: Contact tonometry (60%, 78 D/90 D lens fundus examination (60%, binocular indirect ophthalmoscopy (84% and gonioscopy (78%. Also, among these certified respondents (62 optometrists, a significant proportion (60% disagreed when asked if they were confident and proficient in performing the relevant diagnostic procedures. Many, (61% agreed that lack of incentives discouraged them from routinely performing the procedures. More than half (58%, agreed that chair time was an important factor in deciding whether or not to perform these diagnostic procedures. Of the total respondents (117, 86% agreed that they were confident about the accuracy of their referrals and less than half (45% disagreed that diagnostic procedures should be the sole responsibility of ophthalmologists. Less than

  3. 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

  4. 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.

  5. 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.

  6. 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.

  7. Machine-learning techniques for building a diagnostic model for very mild dementia.

    Science.gov (United States)

    Chen, Rong; Herskovits, Edward H

    2010-08-01

    Many researchers have sought to construct diagnostic models to differentiate individuals with very mild dementia (VMD) from healthy elderly people, based on structural magnetic-resonance (MR) images. These models have, for the most part, been based on discriminant analysis or logistic regression, with few reports of alternative approaches. To determine the relative strengths of different approaches to analyzing structural MR data to distinguish people with VMD from normal elderly control subjects, we evaluated seven different classification approaches, each of which we used to generate a diagnostic model from a training data set acquired from 83 subjects (33 VMD and 50 control). We then evaluated each diagnostic model using an independent data set acquired from 30 subjects (13 VMD and 17 controls). We found that there were significant performance differences across these seven diagnostic models. Relative to the diagnostic models generated by discriminant analysis and logistic regression, the diagnostic models generated by other high-performance diagnostic-model-generation algorithms manifested increased generalizability when diagnostic models were generated from all atlas structures. Copyright 2010 Elsevier Inc. All rights reserved.

  8. 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.

  9. Prenatal prediction of pulmonary hypoplasia.

    Science.gov (United States)

    Triebwasser, Jourdan E; Treadwell, Marjorie C

    2017-03-15

    Pulmonary hypoplasia, although rare, is associated with significant neonatal morbidity and mortality. Conditions associated with pulmonary hypoplasia include those which limit normal thoracic capacity or movement, including skeletal dysplasias and abdominal wall defects; those with mass effect, including congenital diaphragmatic hernia and pleural effusions; and those with decreased amniotic fluid, including preterm, premature rupture of membranes, and genitourinary anomalies. The ability to predict severe pulmonary hypoplasia prenatally aids in family counseling, as well as obstetric and neonatal management. The objective of this review is to outline the imaging techniques that are widely used prenatally to assess pulmonary hypoplasia and to discuss the limitations of these methods.

  10. Breast Cancer-Related Arm Lymphedema: Incidence Rates, Diagnostic Techniques, Optimal Management and Risk Reduction Strategies

    Energy Technology Data Exchange (ETDEWEB)

    Shah, Chirag [Department of Radiation Oncology, William Beaumont Hospital, Royal Oak, MI (United States); Vicini, Frank A., E-mail: fvicini@beaumont.edu [Department of Radiation Oncology, William Beaumont Hospital, Royal Oak, MI (United States)

    2011-11-15

    As more women survive breast cancer, long-term toxicities affecting their quality of life, such as lymphedema (LE) of the arm, gain importance. Although numerous studies have attempted to determine incidence rates, identify optimal diagnostic tests, enumerate efficacious treatment strategies and outline risk reduction guidelines for breast cancer-related lymphedema (BCRL), few groups have consistently agreed on any of these issues. As a result, standardized recommendations are still lacking. This review will summarize the latest data addressing all of these concerns in order to provide patients and health care providers with optimal, contemporary recommendations. Published incidence rates for BCRL vary substantially with a range of 2-65% based on surgical technique, axillary sampling method, radiation therapy fields treated, and the use of chemotherapy. Newer clinical assessment tools can potentially identify BCRL in patients with subclinical disease with prospective data suggesting that early diagnosis and management with noninvasive therapy can lead to excellent outcomes. Multiple therapies exist with treatments defined by the severity of BCRL present. Currently, the standard of care for BCRL in patients with significant LE is complex decongestive physiotherapy (CDP). Contemporary data also suggest that a multidisciplinary approach to the management of BCRL should begin prior to definitive treatment for breast cancer employing patient-specific surgical, radiation therapy, and chemotherapy paradigms that limit risks. Further, prospective clinical assessments before and after treatment should be employed to diagnose subclinical disease. In those patients who require aggressive locoregional management, prophylactic therapies and the use of CDP can help reduce the long-term sequelae of BCRL.

  11. 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

  12. 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

  13. 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 .

  14. Uncertainty Management for Diagnostics and Prognostics of Batteries using Bayesian Techniques

    Data.gov (United States)

    National Aeronautics and Space Administration — Uncertainty management has always been the key hurdle faced by diagnostics and prognostics algorithms. A Bayesian treatment of this problem provides an elegant and...

  15. Kinematic Measures during a Clinical Diagnostic Technique for Human Neck Disorder: Inter- and Intraexaminer Comparisons

    Directory of Open Access Journals (Sweden)

    Joseph Vorro

    2013-01-01

    Full Text Available Diagnoses of human musculoskeletal dysfunction of the cervical spine are indicated by palpable clues of a patient’s structural compliance/noncompliance as this body segment responds to diagnostic motion demands applied by a clinician. This process includes assessments of motion range, motion performance, and changes in tissue responses. However, biomechanical quantification of these diagnostic actions and their reproducible components is lacking. As a result, this study sought to use objective kinematic measures to capture aspects of the diagnostic process to compare inter- and intraexaminer motion behaviors when performing a specific clinical diagnostic protocol. Pain-free volunteers and a group determined to be symptomatic based on a psychometric pain score were examined by two clinicians while three-dimensional kinematic data were collected. Intraexaminer diagnostic motion ranges of cervical lateral flexion and secondary rotations were consistent for each examiner and for each subject group. However, interexaminer comparisons for motion range, secondary rotations, and average velocities yielded consistently larger measures for one examiner for both subject groups (P<0.05. This research demonstrates that fundamental aspects of the clinical diagnostic process for human neck disorders can be identified and measured using kinematic parameters. Further, these objective data have the potential to be linked to clinical decision making.

  16. [Diagnostic value of HASTE technique and excretory MR urography in urinary system obstructions].

    Science.gov (United States)

    Erdoğmuş, Beşir; Bozkurt, Mahmut; Bakir, Zeki

    2004-12-01

    To compare the diagnostic value of static-liquid magnetic resonance urography (MRU) in T2-weighted HASTE (half-fourier acquisition single-shot turbo spinecho) sequences and T1-weighted excretory MRU with i.v. diuretic and contrast material injection. The study included 29 patients (15 men, 14 women). Thirty-one urinary obstructions were detected on intravenous urography (IVU) two of which were due to bilateral obstructions. The cases were evaluated by T2 HASTE sequences combined with T1-weighted FLASH 3D sequences after i.v. diuretics and gadolinium DTPA injection. Thirty-one urinary obstructions were detected on IVU. Thirty of which were confirmed by T2-weighted MRU and all were confirmed by excretory MRU. In one nonobstructive case, unilateral grade 1 ureteropelvicaliectasis related to ureteral stone was falsely interpreted by both sequences. There were no statistical differences among IVU, T2-weighted MRU and excretory MRU in detecting the obstruction levels. In 22 cases with ureteral stones, 12 of which were confirmed by T2-weighted MRU and 18 cases were confirmed by excretory MRU. Sensitivity and specificity fo detecting the ureteral stones as a cause of obstruction with T2-weighted MRU were 50%and 89% and with excretory MRU were 77% and 89% respectively. In 9 obstructive cases due to causes other than the stones, 8 of which were detected by T2-weighted MRU and all of which were detected by excretory MRU. Sensitivity and specificity for detecting the causes other than the stones with T2-weighted MRU were 96% and 100% and with excretory MRU were 100% and 100% respectively. MRU is a useful thechnique revealing high-quality images to determine the urinary system obstructions to obtain the causes of obstructions. MRU should be used as an alternative imaging technique in cases which IVU can not be applied. The existence and the causes of obstruction can be detected by HASTE MRU. Excretory MRU can supply additional information in cases with functional kidneys where

  17. Development of a diagnostic technique based on Cherenkov effect for measurements of fast electrons in fusion devices

    Energy Technology Data Exchange (ETDEWEB)

    Plyusnin, V. V.; Duarte, P.; Fernandes, H.; Silva, C. [Association Euratom/IST, Instituto de Plasmas e Fusao Nuclear, Instituto Superior Tecnico, Universidade Tecnica de Lisboa, Av. Rovisco Pais, 1049-001 Lisboa (Portugal); Jakubowski, L.; Zebrowski, J.; Malinowski, K.; Rabinski, M.; Sadowski, M. J. [National Centre for Nuclear Research (NCBJ), 7 Andrzeja Soltana Str., 05-400 Otwock (Poland)

    2012-08-15

    A diagnostic technique based on the Cherenkov effect is proposed for detection and characterization of fast (super-thermal and runaway) electrons in fusion devices. The detectors of Cherenkov radiation have been specially designed for measurements in the ISTTOK tokamak. Properties of several materials have been studied to determine the most appropriate one to be used as a radiator of Cherenkov emission in the detector. This technique has enabled the detection of energetic electrons (70 keV and higher) and the determination of their spatial and temporal variations in the ISTTOK discharges. Measurement of hard x-ray emission has also been carried out in experiments for validation of the measuring capabilities of the Cherenkov-type detector and a high correlation was found between the data of both diagnostics. A reasonable agreement was found between experimental data and the results of numerical modeling of the runaway electron generation in ISTTOK.

  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. 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 & ...

  20. 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 & ...

  1. 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 ...

  2. Hybrid Neural-Network: Genetic Algorithm Technique for Aircraft Engine Performance Diagnostics Developed and Demonstrated

    Science.gov (United States)

    Kobayashi, Takahisa; Simon, Donald L.

    2002-01-01

    As part of the NASA Aviation Safety Program, a unique model-based diagnostics method that employs neural networks and genetic algorithms for aircraft engine performance diagnostics has been developed and demonstrated at the NASA Glenn Research Center against a nonlinear gas turbine engine model. Neural networks are applied to estimate the internal health condition of the engine, and genetic algorithms are used for sensor fault detection, isolation, and quantification. This hybrid architecture combines the excellent nonlinear estimation capabilities of neural networks with the capability to rank the likelihood of various faults given a specific sensor suite signature. The method requires a significantly smaller data training set than a neural network approach alone does, and it performs the combined engine health monitoring objectives of performance diagnostics and sensor fault detection and isolation in the presence of nominal and degraded engine health conditions.

  3. The Diagnostic Challenge Competition: Probabilistic Techniques for Fault Diagnosis in Electrical Power Systems

    Science.gov (United States)

    Ricks, Brian W.; Mengshoel, Ole J.

    2009-01-01

    Reliable systems health management is an important research area of NASA. A health management system that can accurately and quickly diagnose faults in various on-board systems of a vehicle will play a key role in the success of current and future NASA missions. We introduce in this paper the ProDiagnose algorithm, a diagnostic algorithm that uses a probabilistic approach, accomplished with Bayesian Network models compiled to Arithmetic Circuits, to diagnose these systems. We describe the ProDiagnose algorithm, how it works, and the probabilistic models involved. We show by experimentation on two Electrical Power Systems based on the ADAPT testbed, used in the Diagnostic Challenge Competition (DX 09), that ProDiagnose can produce results with over 96% accuracy and less than 1 second mean diagnostic time.

  4. Diagnostic Approach to Ocular Infections Using Various Techniques From Conventional Culture to Next-Generation Sequencing Analysis.

    Science.gov (United States)

    Eguchi, Hiroshi; Hotta, Fumika; Kuwahara, Tomomi; Imaohji, Haruyuki; Miyazaki, Chika; Hirose, Miou; Kusaka, Shunji; Fukuda, Masahiko; Shimomura, Yoshikazu

    2017-09-11

    Ocular infection is caused by both endogenous (resident) and exogenous (environmental) microbes. As the ocular surface interacts with both outer environment and its own resident microbiota, clinical ocular samples are predicted to contain a diverse set of microorganisms. Microscopy of sample smears is an important step in the diagnostic process of infectious diseases to interpret the culture results. Traditional culture techniques have several limitations in the detection and/or identification of uncharacterized bacteria of environmental origin. Molecular biological techniques, such as polymerase chain reaction of pathogen-specific virulence genes, 16S rRNA gene clone library analysis, and next-generation sequencing of 16S rDNA amplicons, compensate for diagnostic culture techniques in diagnosing infectious diseases. These techniques are expected to provide novel insights into the ocular microbiota and pathology of ocular infections. In this article, we describe various ocular infections, including contact lens-related keratitis, silicone buckle infection, and dacryocystitis, which were analyzed using molecular biological techniques. The advantages and disadvantages of these highly sensitive and inclusive microbiological detection systems for ocular infections are discussed.

  5. Diagnostics of glass fiber reinforced polymers and comparative analysis of their fabrication techniques with the use of acoustic emission

    Science.gov (United States)

    Bashkov, O. V.; Bryansky, A. A.; Panin, S. V.; Zaikov, V. I.

    2016-11-01

    Strength properties of the glass fiber reinforced polymers (GFRP) fabricated by vacuum and vacuum autoclave molding techniques were analyzed. Measurements of porosity of the GFRP parts manufactured by various molding techniques were conducted with the help of optical microscopy. On the basis of experimental data obtained by means of acoustic emission hardware/software setup, the technique for running diagnostics and forecasting the bearing capacity of polymeric composite materials based on the result of three-point bending tests has been developed. The operation principle of the technique is underlined by the evaluation of the power function index change which takes place on the dependence of the total acoustic emission counts versus the loading stress.

  6. 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

  7. 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

  8. 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

  9. Principles for new optical techniques in medical diagnostics for mHealth applications

    Science.gov (United States)

    Balsam, Joshua Michael

    Medical diagnostics is a critical element of effective medical treatment. However, many modern and emerging diagnostic technologies are not affordable or compatible with the needs and conditions found in low-income and middle-income countries and regions. Resource-poor areas require low-cost, robust, easy-to-use, and portable diagnostics devices compatible with telemedicine (i.e. mHealth) that can be adapted to meet diverse medical needs. Many suitable devices will need to be based on optical technologies, which are used for many types of biological analyses. This dissertation describes the fabrication and detection principles for several low-cost optical technologies for mHealth applications including: (1) a webcam based multi-wavelength fluorescence plate reader, (2) a lens-free optical detector used for the detection of Botulinum A neurotoxin activity, (3) a low cost micro-array reader that allows the performance of typical fluorescence based assays demonstrated for the detection of the toxin staphylococcal enterotoxin (SEB), and (4) a wide-field flow cytometer for high throughput detection of fluorescently labeled rare cells. This dissertation discusses how these technologies can be harnessed using readily available consumer electronics components such as webcams, cell phones, CCD cameras, LEDs, and laser diodes. There are challenges in developing devices with sufficient sensitivity and specificity, and approaches are presented to overcoming these challenges to create optical detectors that can serve as low cost medical diagnostics in resource-poor settings for mHealth.

  10. 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。

  11. THE TECHNIQUE OF DIAGNOSTICS OF THE PRODUCTION CAPACITY OF THE ORGANIZATION

    Directory of Open Access Journals (Sweden)

    E. S. Popova

    2014-01-01

    Full Text Available In the article due to the need for diagnostics of the production capacity of the organization. Formed methodological framework for evaluating the production potential of the organization. Research capacity will also enable the organization to timely respond to current changes. A classification of types of diagnostics of the production capacity of the organization according to the following criteria: timing, goals, content, purpose results. The article discusses the economic and organizational diagnosis of the production capacity of the organization. Economic diagnosis is based on the calculation of indicators of use of resources of the organization. Organizational diagnosis assesses the security of the organization's activities. Diagnosis productive capacity is the basis for improvement of the organization's activities. Defined diagnostics of the production capacity of the organization. Justified the selection stages of the research production potential. The first stage is the preliminary diagnosis. The second stage provides for the rapid diagnosis of production potential. At the third stage it is advisable to perform problem diagnosis. Problem diagnosis consists of economic and organizational diagnosis. Economic diagnosis assesses the state of the elements of the production potential of the organization. Organizational diagnostics analyses provide productive capacity. The fourth stage is represented by the solution of the problems of utilization of production capacity. Each stage is considered, has its content and specific diagnostic methods of production potential. This method allows determining the state of the elements, the efficiency of utilization of production capacity. The estimation of the production potential is based on the application of utility theory. This assessment provides a definition of the criteria and the scale of usefulness. This will allow you to measure the production potential numerically. In the end, it is revealed

  12. A mathematical model of penile vascular dysfunction and its application to a new diagnostic technique.

    Science.gov (United States)

    Barnea, Ofer; Hayun, Shimon; Gillon, Gabriel

    2007-04-01

    A noninvasive diagnostic device was developed to assess the vascular origin and severity of penile dysfunction. It was designed and studied using both a mathematical model of penile hemodynamics and preliminary experiments on healthy young volunteers. The device is based on the application of an external pressure (or vacuum) perturbation to the penis following the induction of erection. The rate of volume change while the penis returns to its natural condition is measured using a noninvasive system that includes a volume measurement mechanism that has very low friction, thereby not affecting the measured system. The rate of volume change (net flow) is obtained and analyzed. Simulations using a mathematical model show that the device is capable of differentiating between arterial insufficiency and venous leak and indicate the severity of each. In preliminary measurements on young healthy volunteers, the feasibility of the measurement has been demonstrated. More studies are required to confirm the diagnostic value of the measurements.

  13. Assessment of Diagnostic Value of Single View Dynamic Technique in Diagnosis of Developmental Dysplasia of Hip: A Comparison with Static and Dynamic Ultrasond Techniques.

    Science.gov (United States)

    Alamdaran, Seyed Ali; Kazemi, Sahar; Parsa, Ali; Moghadam, Mohammad Hallaj; Feyzi, Ali; Mardani, Reza

    2016-10-01

    Developmental dysplasia of hip (DDH) is a common childhood disorder, and ultrasonography examination is routinely used for screening purposes. In this study, we aimed to evaluate a modified combined static and dynamic ultrasound technique for the detection of DDH and to compare with the results of static and dynamic ultrasound techniques. In this cross-sectional study, during 2013- 2015, 300 high-risk infants were evaluated by ultrasound for DDH. Both hips were examined with three techniques: static, dynamic and single view static and dynamic technique. Statistical analysis was performed using SPSS version 11.5. Patients aged 9 days to 83 weeks. 75% of the patients were 1 to 3 months old. Among 600 hip joints, about 5% were immature in static sonography and almost all of them were unstable in dynamic techniques. 0.3% of morphologically normal hips were unstable in dynamic sonography and 9% of unstable hips had normal morphology. The mean β angle differences in coronal view before and after stress maneuver was 14.43±5.47° in unstable hips. Single view static and dynamic technique revealed that all cases with acetabular dysplasia, instability and dislocation, except two dislocations, were detected by dynamic transverse view. For two cases, Ortolani maneuver showed femoral head reversibility in dislocated hips. Using single view static and dynamic technique was indicative and applicable for detection of more than 99% of cases. Single view static and dynamic technique not only is a fast and easy technique, but also it is of high diagnostic value in assessment of DDH.

  14. Diagnostic Efficacy in Knee MRI Comparing Conventional Technique and Multiplanar Reconstruction with One-Millimeter FSE PDW Images

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Y.C.; Kim, S.S.; Chung, H.W.; Choe, B.K.; Ahn, J.H. [Dept. of Radiolog y, Kangwon National Univ. School of Medicine, Kangwon-do (Korea)

    2007-10-15

    Background: Magnetic resonance (MR) imaging has proved to be an excellent tool in diagnosing injuries of the cruciate ligaments and menisci. However, multiple planes and sometimes optimal oblique or double-oblique scan planes are needed due to the variability in the positioning of important structures, which means there is a lower throughput and longer scanning time. Purpose: To compare the performance of a 1-mm-thickness fast spin-echo (FSE) proton-density-weighted (PDW) MR imaging technique with multiplanar reconstruction (MPR) in diagnosing tears of the menisci and cruciate ligaments with that of conventional MR imaging. Material and Methods: Twenty-five consecutive patients underwent preoperative conventional and 1-mm-thickness FSE PDW MR imaging with subsequent knee arthroscopic surgery. Two musculoskeletal radiologists evaluated the status of the cruciate ligaments and menisci using two sets of MR images (method A: conventional images including seven sequences, taking 26 min; method B: 1-mm-thickness FSE PDW images with MPR, taking 7 min 20 s). The diagnostic efficacies of both methods for tears of the cruciate ligament and menisci were calculated and compared. Results: Arthroscopic surgery revealed 10 anterior cruciate ligament (ACL) tears, one posterior cruciate ligament (PCL) tear, and 26 meniscal tears. The diagnostic values of both methods were 100% for a cruciate ligament tear. The diagnostic values (sensitivity, specificity, accuracy, positive predictive value, and negative predictive value) for meniscal tears were 90%, 100%, 96%, 100%, and 94% for method A, and 95%, 100%, 98%, 100%, and 97% for method B, respectively. There were no significant differences in the diagnostic values between methods A and B. Conclusion: 1-mm-slice-thickness FSE PDW imaging with MPR showed comparable performance in diagnosing tears of the cruciate ligaments and menisci to conventional sequences but the scan time was much shorter. Therefore, this technique (method B) might

  15. 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.

  16. Comparison of advanced optical imaging techniques with current otolaryngology diagnostics for improved middle ear assessment (Conference Presentation)

    Science.gov (United States)

    Nolan, Ryan M.; Shelton, Ryan L.; Monroy, Guillermo L.; Spillman, Darold R.; Novak, Michael A.; Boppart, Stephen A.

    2016-02-01

    Otolaryngologists utilize a variety of diagnostic techniques to assess middle ear health. Tympanometry, audiometry, and otoacoustic emissions examine the mobility of the tympanic membrane (eardrum) and ossicles using ear canal pressure and auditory tone delivery and detection. Laser Doppler vibrometry provides non-contact vibrational measurement, and acoustic reflectometry is used to assess middle ear effusion using sonar. These technologies and techniques have advanced the field beyond the use of the standard otoscope, a simple tissue magnifier, yet the need for direct visualization of middle ear disease for superior detection, assessment, and management remains. In this study, we evaluated the use of portable optical coherence tomography (OCT) and pneumatic low-coherence interferometry (LCI) systems with handheld probe delivery to standard tympanometry, audiometry, otoacoustic emissions, laser Doppler vibrometry, and acoustic reflectometry. Comparison of these advanced optical imaging techniques and current diagnostics was conducted with a case study subject with a history of unilateral eardrum trauma. OCT and pneumatic LCI provide novel dynamic spatiotemporal structural data of the middle ear, such as the thickness of the eardrum and quantitative detection of underlying disease pathology, which could allow for more accurate diagnosis and more appropriate management than currently possible.

  17. Using technique vibration diagnostics for assessing the quality of power transmission line supports repairs

    Directory of Open Access Journals (Sweden)

    Cherpakov Aleksander

    2017-01-01

    Full Text Available The considered method for assessing the quality of the repair work to restore the rack supports of transmission lines is based on the method of vibration diagnostics. Power transmission line supports with a symmetrical destruction of the protective layer of concrete in the ground in violation of the construction section were chosen as an object. Finite element modelling package Ansys was used in assessing the quality of repair work. The example of evaluating the quality of repair using the relative adhesion defective area design criteria in the analysis of natural vibration frequencies is given.

  18. Diagnostic utility of invasive EEG for epilepsy surgery: Indications, modalities, and techniques.

    Science.gov (United States)

    Jayakar, Prasanna; Gotman, Jean; Harvey, A Simon; Palmini, André; Tassi, Laura; Schomer, Donald; Dubeau, Francois; Bartolomei, Fabrice; Yu, Alice; Kršek, Pavel; Velis, Demetrios; Kahane, Philippe

    2016-11-01

    Many patients with medically refractory epilepsy now undergo successful surgery based on noninvasive diagnostic information, but intracranial electroencephalography (IEEG) continues to be used as increasingly complex cases are considered surgical candidates. The indications for IEEG and the modalities employed vary across epilepsy surgical centers; each modality has its advantages and limitations. IEEG can be performed in the same intraoperative setting, that is, intraoperative electrocorticography, or through an independent implantation procedure with chronic extraoperative recordings; the latter are not only resource intensive but also carry risk. A lack of understanding of IEEG limitations predisposes to data misinterpretation that can lead to denying surgery when indicated or, worse yet, incorrect resection with adverse outcomes. Given the lack of class 1 or 2 evidence on IEEG, a consensus-based expert recommendation on the diagnostic utility of IEEG is presented, with emphasis on the application of various modalities in specific substrates or locations, taking into account their relative efficacy, safety, ease, and incremental cost-benefit. These recommendations aim to curtail outlying indications that risk the over- or underutilization of IEEG, while retaining substantial flexibility in keeping with most standard practices at epilepsy centers and addressing some of the needs of resource-poor regions around the world. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

  19. Advances in diagnostic techniques of toxoplasmosis%弓形虫病诊断方法研究进展

    Institute of Scientific and Technical Information of China (English)

    冯嘉轩; 赵永坤; 孟繁平; 吴泽民; 刘智; 李娜; 刘全

    2016-01-01

    Toxoplasmosis is a severe parasitic zoonosis caused byToxoplasma gondii, which poses a threat to human health. In this paper, the diagnostic techniques of toxoplasmosis and detection methods ofT. gondii were reviewed, including non-DNA-based diagnostic methods, serological assays, and molecular methods based on detection of parasite nucleic acid in hope of providing an insight into the development of novel diagnostic technologies and methods of toxoplasmosis.%弓形虫病是由弓形虫感染引起的一种严重的人兽共患寄生虫病,对人类健康造成极大威胁。本文对弓形虫病诊断技术,包括不依赖DNA检测诊断方法、血清学检测以及基于寄生虫核酸的分子生物学方法进行综述,为弓形虫病诊断技术和方法的发展提供新的思路。

  20. 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.

  1. 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

  2. Diagnostic prénatal: quelles sont les techniques actuelles et futures ? (flyer)

    CERN Multimedia

    2002-01-01

    La majorité des bébés qui viennent au monde ne présentent pas d'anomalies particulières. Cependant, il faut savoir qu'environ 1 foetus 170 présente une anomalie chromosomique (défaut de la structure ou du nombre de chromosomes) qui va peser plus ou moins lourdement sur sa vie future et 1 foetus sur 100 présente une maladie génique due à un changement dans un gène. Le diagnostic prénatal a connu et connaît une formidable expansion grâce aux progrès technologiques en génétique et imagerie foetale.

  3. Computer Aided Diagnostic Support System for Skin Cancer: A Review of Techniques and Algorithms

    Directory of Open Access Journals (Sweden)

    Ammara Masood

    2013-01-01

    Full Text Available Image-based computer aided diagnosis systems have significant potential for screening and early detection of malignant melanoma. We review the state of the art in these systems and examine current practices, problems, and prospects of image acquisition, pre-processing, segmentation, feature extraction and selection, and classification of dermoscopic images. This paper reports statistics and results from the most important implementations reported to date. We compared the performance of several classifiers specifically developed for skin lesion diagnosis and discussed the corresponding findings. Whenever available, indication of various conditions that affect the technique’s performance is reported. We suggest a framework for comparative assessment of skin cancer diagnostic models and review the results based on these models. The deficiencies in some of the existing studies are highlighted and suggestions for future research are provided.

  4. [THE MOLECULAR TECHNIQUES OF DIAGNOSTIC OF GINGIVITIS AND PERIODONTITIS IN HIV-INFECTED PATIENTS].

    Science.gov (United States)

    Tsarev, V N; Nikolaeva, E N; Iagodina, E V; Trefilova, Yu A; Ippolitov, E V

    2016-01-01

    The examination was carried out in the Moscow clinical infectious hospital No 2 concerning 102 patients with verified diagnosis "AIDS-infection" and seropositive according results of detection of anti-HIV-antibodies in blood serum. The study was organized to analyze rate ofcolonization of gums with virulent anaerobic bacteria in HIV-infected (polymerase chain reaction) and antibodies to HIV in gingival fluid (enzyme-linked immunosorbent assay). It is established that in HIV-infected patients, in scrape from gingival sulcus dominate anaerobic bacteria P. gigngivalis and A. ctinomycetemcomitans and in case of periodontitis--P. gingivalis and T. forsythia. The received data permits recommending the test-system "Multident-5" for polymerase chain reaction diagnostic. The reagents kit "Calypte®HIV-1/2"--for enzyme-linked immunosorbent assay gingival fluid. The results of polymerase chain reaction and enzyme-linked immunosorbent assay have no impact of concomitant stomatological (periodontitis, gingivitis) and somatic pathology.

  5. Critical evaluation of fine needle aspiration cytology as a diagnostic technique in bone tumors and tumor-like lesions.

    Science.gov (United States)

    Chakrabarti, Sudipta; Datta, Alok Sobhan; Hira, Michael

    2012-01-01

    Though open surgical biopsy is the procedure of choice for the diagnosis of bone tumors, many disadvantages are associated with this approach. The present study was undertaken to evaluate the role of fine needle aspiration cytology (FNAC) as a diagnostic tool in cases of bony tumors and tumor-like lesions which may be conducted in centers where facilities for surgical biopsies are inadequate. The study population consisted of 51 cases presenting with a skeletal mass. After clinical evaluation, radiological correlation was done to assess the nature and extent of each lesion. Fine needle aspiration was performed aseptically and smears were prepared. Patients subsequently underwent open surgical biopsy and tissue samples were obtained for histopathological examination. Standard statistical methods were applied for analysis of data. Adequate material was not obtained even after repeated aspiration in seven cases, six of which were benign. Among the remaining 44 cases, diagnosis of malignancy was correctly provided in 28 (93.3%) out of 30 cases and categorical diagnosis in 20 (66.67%). Interpretation of cytology was more difficult in cases of benign and tumor-like lesions, with a categorical opinion only possible in seven (50%) cases. Statistical analysis showed FNAC with malignant tumors to have high sensitivity (93.3%), specificity (92.9%) and positive predictive value of 96.6%, whereas the negative predictive value was 86.7%. FNAC should be included in the diagnostic workup of a skeletal tumor because of its simplicity and reliability. However, a definitive pathologic diagnosis heavily depends on compatible clinical and radiologic features which can only be accomplished by teamwork. The cytological technique applied in this study could detect many bone tumors and tumor-like conditions and appears particularly suitable as a diagnostic technique for rural regions of India as other developing countries.

  6. Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

    Directory of Open Access Journals (Sweden)

    Garas Antonios

    2009-01-01

    Full Text Available Abstract Background The heterogeneous group of small supernumerary marker chromosomes (sSMCs presents serious counseling problems, especially if they are present de novo and diagnosed prenatally. The incidence has been estimated at 1 in 1000 prenatal samples. We present a case of mosaic sSMC diagnosed prenatally after amniocentesis. The sSMC was characterized by various molecular cytogenetic techniques and determined to be a r(20 chromosome. After genetic counseling, the parents decided to continue the pregnancy, and a boy with minor phenotypic variants was born after 39 weeks of pregnancy. The case is compared with four other cases of prenatally detected r(20 mosaicism. Results Here we describe a 3 months old male child with normal pre- and postnatal development and with a de novo ring supernumerary marker chromosome in amniocytes cultures. Using new fluorescence in situ hybridization (FISH techniques, three distinguishable sSMCs (cryptic mosaicism, all derived from chromosome 20, were observed, including ring and minute chromosomes. This heterogeneity was impossible to detect by the conventional G-banding technique or conventional FISH technique that were used before the application of new FISH techniques (subcentromere-specific multicolor-FISH [subcenM-FISH] and a probe, specific for the 20p12.2 band. The sSMC present in 25% of the cells was present as r(20(::p12.2~12.3->q11.1::5/r(20;20(::p12.1->q11.1::q11.1 >p12.1::2/min(20;20(:p12.1->q11.1::q11.1->p12.1:1. The final karyotype was 47,XY,+r(20[25%]/46,XY[75%]. Conclusion We emphasize the importance of application of molecular cytogenetics in a prenatally diagnostic laboratory and description of more cases to enable a better genetic counseling and risk evaluation.

  7. A Novel Technique for Detecting Antibiotic-Resistant Typhoid from Rapid Diagnostic Tests

    OpenAIRE

    2015-01-01

    Fluoroquinolone-resistant typhoid is increasing. An antigen-detecting rapid diagnotic test (RDT) can rapidly diagnose typhoid from blood cultures. A simple, inexpensive molecular technique performed with DNA from positive RDTs accurately identified gyrA mutations consistent with phenotypic susceptibility testing results. Field diagnosis combined with centralized molecular resistance testing could improve typhoid management and surveillance in low-resource settings.

  8. Spectroscopic techniques as a diagnostic tool for early detection of osteoporosis

    Energy Technology Data Exchange (ETDEWEB)

    Singh, Kanika; Lee, Kwang Sung; Lee, Dong Geun; Kim, Yong Ki; Kim, Kyung Chun [Pusan National University, Busan (Korea, Republic of)

    2010-08-15

    Osteoporosis (OP) a kind of bone disease, is very serious in particular for old persons, and may lead them to immobility and death. Early detection of the diseases is the first consideration for the patients to have more options to live a healthy life. The biomarkers or bonemarkers provide a promising challenge in clinical proteomics for early disease detection. In this paper, optical techniques such as Fourier Transform Infrared Spectroscopy (FTIR) and UV/Visible spectroscopy are employed to find the bone markers and emphasis has been given on noninvasive modalities for early detection of osteoporosis. Blood plasma samples procured from two groups, patients and healthy persons were tested. Both of the optical techniques revealed obvious differences in the spectra: between two groups, for example, increase in intensity for OP persons. New peaks were found at 1646, 1540, 1456 and 1077 cm-1 in FTIR spectra. Except 1588 cm-1, we showed decrease in spectral intensity of OP persons. In UV/Visible spectroscopy results, new peaks appeared in the OP patients spectra at the wavelength of 279 nm and 414 nm. These differences in the spectra of the two types samples, allow rapid and cost-effective discrimination of the potential patients with the optical techniques which were verified by the bone densitometer in the hospitals. The new and novel technique is quick, reliable and effective

  9. Prenatal diagnosis of arachnoid cyst

    Directory of Open Access Journals (Sweden)

    Korkut Daglar

    2016-12-01

    Full Text Available Arachnoid cysts are rare, usually benign, space-occupying central nervous system lesion. They are the results of an accumulation of cerebrospinal-like fluid between the cerebral meninges and diagnosed prenatally as a unilocular, simple, echolucent area within the fetal head. They may be primary (congenital (maldevelopment of the meninges or secondary (acquired (result of infection trauma, or hemorrhage. The primary ones typically dont communicate with the subarachnoid space whereas acquired forms usually communicate. In recent years, with the development of radiological techniques, the clinical detectability of arachnoid cysts seems to have increased. We report a case of primary arachnoid cyst that were diagnosed prenatally by using ultrasonography and magnetic resonance imaging . [Cukurova Med J 2016; 41(4.000: 792-795

  10. Comparative analysis of diagnostic adequacy rate between aspiration and nonaspiration techniques of fine-needle cytology in patients with thyroid cancer and ultrasonographically suspicious cervical lymph nodes.

    Science.gov (United States)

    Aydin, Cevdet; Dellal, Fatma Dilek; Tam, Abbas Ali; Ogmen, Berna; Kilicarslan, Aydan; Topaloglu, Oya; Ersoy, Reyhan; Cakir, Bekir

    2017-08-18

    We aimed to compare nonaspiration (NAS) and aspiration (AS) techniques in the evaluation of fine-needle cytology of lymph node (FNC-LN) in terms of diagnostic adequacy of cytologic material. One hundred and twenty-three superficial cervical LNs in 75 patients who underwent NAS and AS-FNC-LN in the same visit were evaluated. Cytological results were categorized as diagnostic and nondiagnostic. The rates of malignancy were 13.8% in AS versus 16.3% in NAS technique, whereas nondiagnostic cytology was detected in 43.1% and 25.2%, respectively (P = .549 and P < .01). The diagnostic adequacy rate in NAS-FNC-LN was significantly higher than AS-FNC-LN. However, NAS technique seems to be more simple and comfortable. We suggest both NAS and AS-FNC-LN in cytologic evaluation of suspicious cervical LNs until the diagnostic accuracy is determined with prospective studies. © 2017 Wiley Periodicals, Inc.

  11. 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.

  12. 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.

  13. Development of a Dermatology Diagnostic Techniques Teaching Session: A Nine-Step Approach.

    Science.gov (United States)

    Farrell, Robin M; Shell, Linda G

    2017-08-16

    Creating effective learning experiences for veterinary clinical skills and procedures can be a challenging task. Drawing from both medical and veterinary education literature and personal experiences as practicing veterinarians and educators, the authors share nine key steps that describe the development process of a pre-clinical veterinary clinical skills teaching session. Relevant research and pedagogical principles supporting the effectiveness of the proposed nine-step process were identified and discussed. The aims of this article were to describe the development of a dermatology techniques teaching session and to provide the reader with a structured approach that can be used as a template to design or audit other clinical skills teaching sessions.

  14. Comparison of different diagnostic techniques for the detection of cryptosporidiosis in bovines

    Directory of Open Access Journals (Sweden)

    H. K. M. Rekha

    2016-02-01

    Full Text Available Aim: Aim of the present study was to compare different methods, viz., Sheather’s sugar flotation (SSF, Ziehl-Neelsen (ZN, Kinyoun’s acid-fast method (KAF, safranin-methylene blue staining (SMB, and negative staining techniques such as nigrosin staining, light green staining, and malachite green staining for the detection of Cryptosporidium spp. oocysts in bovines. Materials and Methods: A total of 455 fecal samples from bovines were collected from private, government farms and from the clinical cases presented to Department of Medicine, Veterinary College, Bengaluru. They were subjected for SSF, ZN, KAF, SMB and negative staining methods. Results: Out of 455 animal fecal samples screened 5.71% were found positive for Cryptosporidium spp. oocysts. The species were identified as Cryptosporidium parvum in calves and Cryptosporidium andersoni in adults based on the morphological characterization and micrometry of the oocysts. Conclusions: Of all the techniques, fecal flotation with sheather’s was found to be more specific and sensitive method for the detection of Cryptosporidium spp. oocysts. Among the conventional staining methods, the SMB gives better differentiation between oocysts and yeast. Among the three negative staining methods, malachite green was found sensitive over the other methods.

  15. Effects of anatomical position on esophageal transit time: A biomagnetic diagnostic technique

    Institute of Scientific and Technical Information of China (English)

    Teodoro Cordova-Fraga; Modesto Sosa; Cados Wiechers; Jose Maria De la Roca-Chiapas; Alejandro Maldonado Moreles; Jesus BernaI-Alvarado; Raquel Huerta-Franco

    2008-01-01

    AIM: To study the esophageal transit time (ETT)and compare its mean value among three anatomical inclinations of the body; and to analyze the correlation of ETT to body mass index (BMI).METHODS: A biomagnetic technique was implemented to perform this study: (1) The transit time of a magnetic marker (MM) through the esophagus was measured using two fluxgate sensors placed over the chest of 14 healthy subjects; (2) the ETT was assessed in three anatomical positions (at upright,fowler,and supine positions; 90°,45° and 0°,respectively).RESULTS: ANOVA and Tuckey post-hoc tests demonstrated significant differences between ETT mean of the different positions.The ETT means were 5.2 ±1.1 s,6.1±1.5 s,and 23.6 ± 9.2 s for 90°,45° and 0°,respectively.Pearson correlation results were r = -0.716 and P < 0.001 by subjects' anatomical position,and r =-0.024 and P > 0.05 according the subject's BHI.CONCLUSION: We demonstrated that using this biomagnetic technique,it is possible to measure the ETT and the effects of the anatomical position on the ETT.

  16. Diagnostic Value of Hook Wire Localization Technique for Non-Palpable Breast Lesions

    Science.gov (United States)

    Demiral, Gokhan; Senol, Metin; Bayraktar, Baris; Ozturk, Hasan; Celik, Yahya; Boluk, Salih

    2016-01-01

    Background The aim of this study was to investigate the validity of hook wire localization biopsy for non-palpable breast lesions which were detected by ultrasonography (USG) or mammography (MMG). Methods In this retrospective study, USG or MMG-guided hook wire localization technique was performed on 83 patients who had non-palpable breast lesions. Then histopathological examination was performed on surgically removed specimens. All patients’ mammograms or ultrasonograms were categorized using Breast Imaging-Reporting and Data System (BI-RADS) classification. Results Radiologically, 27 (32.53%) patients were classified as BI-RADS 3, 49 (59.04%) BI-RADS 4, one (1.2%) BIRADS 5 and six (7.23%) BI-RADS 0. Histopathological results were benign in 68 (81.9%) and malignant in 15 (18.1%) patients. Twenty-seven patients were classified as BI-RADS 3 and definitive diagnoses for all were benign. Besides, 49 patients were classified as BI-RADS 4 and histopathologically 14 of them were reported as malignant, and 35 as benign. Sensitivity of MMG was 93% and specificity was 55%. For USG, the sensitivity was 100% and the specificity was 73%. Conclusion In early diagnosis of breast cancer, the validity of the imaging-guided hook wire localization biopsy of non-palpable breast lesions has been proved. The cooperation of surgeon, radiologist and pathologist increases the successfull results of hook wire localization technique. PMID:27081425

  17. Diagnostic performance of MRI measurements to assess hindfoot malalignment. An assessment of four measurement techniques

    Energy Technology Data Exchange (ETDEWEB)

    Buck, Florian M.; Hoffmann, Adrienne; Mamisch-Saupe, Nadja; Hodler, Juerg [University Hospital Balgrist and University of Zurich, Radiology, Zuerich (Switzerland); Farshad, Mazda; Espinosa, Norman [University Hospital Balgrist and University of Zurich, Department of Orthopaedic Surgery, Zuerich (Switzerland); Resnick, Donald [University of California San Diego, Department of Radiology, San Diego, CA (United States)

    2013-09-15

    To investigate the ability of coronal non-weight-bearing MR images to discriminate between normal and abnormal hindfoot alignment. Three different measurement techniques (calcaneal axis, medial/lateral calcaneal contour) based on weight-bearing hindfoot alignment radiographs were applied in 49 patients (mean, 48 years; range 21-76 years). Three groups of subjects were enrolled: (1) normal hindfoot alignment (0 -10 valgus); (2) abnormal valgus (>10 ); (3) any degree of varus hindfoot alignment. Hindfoot alignment was then measured on coronal MR images using four different measurement techniques (calcaneal axis, medial/lateral calcaneal contour, sustentaculum tangent). ROC analysis was performed to find the MR measurement with the greatest sensitivity and specificity for discrimination between normal and abnormal hindfoot alignment. The most accurate measurement on MR images to detect abnormal hindfoot valgus was the one using the medial calcaneal contour, reaching a sensitivity/specificity of 86 %/75 % using a cutoff value of >11 valgus. The most accurate measurement on MR images to detect abnormal hindfoot varus was the sustentaculum tangent, reaching a sensitivity/specificity of 91 %/71 % using a cutoff value of <12 valgus. It is possible to suspect abnormal hindfoot alignment on coronal non-weight-bearing MR images. (orig.)

  18. Towards non-invasive diagnostic techniques for early detection of acute renal transplant rejection: A review

    Directory of Open Access Journals (Sweden)

    Elizabeth Hollis

    2017-03-01

    Full Text Available The kidney is a very important complicated filtering organ of the body. When the kidney reaches stage 5 chronic kidney disease, end stage renal failure, the preeminent therapy is renal transplantation. Although it is the best form of treatment, lack of kidney donors is still challenging. Therefore, all efforts should be employed to prolong the survival rate of the transplanted kidney. However, graft dysfunction (e.g., acute rejection is one of the serious barriers to long term kidney transplant survival. Currently, graft dysfunction’s gold standard of diagnosis is renal biopsy. Although renal biopsy is helpful, it is not preferred due to its invasive nature, high morbidity rates, and expensiveness. Therefore, noninvasive imaging techniques have become the subject of extensive research and interest, giving a strong promise to replace, or at least to decrease, biopsy usage in diagnosing graft dysfunction. This survey will discuss not only the current diagnosis and treatment of graft dysfunction but also the state-of-the-art imaging techniques in detecting acute renal transplant rejection.

  19. Tandem vaginoscopy with colonoscopy: a diagnostic technique for the assessment of colovaginal fistula.

    Science.gov (United States)

    Alkhatib, A A; Santoro, G A; Gorgun, E; Abbas, M A

    2016-05-01

    Colovaginal fistula (CVF) has a negative impact on quality of life. Identifying the fistula track is a critical step in its management. In a subset of patients, localizing the fistula preoperatively can be difficult. The purpose of this report is to describe the technique and results of tandem vaginoscopy with colonoscopy (TVC). A retrospective analysis was conducted of all patients referred to a tertiary centre with symptoms suggestive of CVF but no prior successful localization of a fistula. TVC was performed by one colorectal surgeon in the endoscopy suite under intravenous sedation. Between 2003 and 2013, 18 patients (median age 58 years) underwent TVC. CVF was ruled out in three patients. In the remaining 15 patients, TVC documented the fistula in 13. In eight cases a wire was passed through the fistulous track from the vagina to the colon, in three the track was large enough to be traversed with the endoscope and in two a fistulous opening was noted on the vaginal side but passage of a wire to localize the opening on the colonic side was not possible due to extensive scarring. No TVC-related complications were recorded. The sensitivity, specificity, positive predictive value and negative predictive value for TVC in detecting CVF were 86.7%, 100%, 100% and 60%, respectively. TVC is a useful technique that can localize the fistulous track in most patients with CVF. Colorectal Disease © 2015 The Association of Coloproctology of Great Britain and Ireland.

  20. Diagnostics and Control of Natural Gas-Fired furnaces via Flame Image Analysis using Machine Vision & Artificial Intelligence Techniques

    Energy Technology Data Exchange (ETDEWEB)

    Shahla Keyvan

    2005-12-01

    A new approach for the detection of real-time properties of flames is used in this project to develop improved diagnostics and controls for natural gas fired furnaces. The system utilizes video images along with advanced image analysis and artificial intelligence techniques to provide virtual sensors in a stand-alone expert shell environment. One of the sensors is a flame sensor encompassing a flame detector and a flame analyzer to provide combustion status. The flame detector can identify any burner that has not fired in a multi-burner furnace. Another sensor is a 3-D temperature profiler. One important aspect of combustion control is product quality. The 3-D temperature profiler of this on-line system is intended to provide a tool for a better temperature control in a furnace to improve product quality. In summary, this on-line diagnostic and control system offers great potential for improving furnace thermal efficiency, lowering NOx and carbon monoxide emissions, and improving product quality. The system is applicable in natural gas-fired furnaces in the glass industry and reheating furnaces used in steel and forging industries.

  1. New imaging technique using degree of polarization for the study of polarimetric properties for non-invasive biomedical diagnostic

    Science.gov (United States)

    Buscemi, Isabella C.; Guyot, Steve; Lemoine, Jacques

    2012-06-01

    This research proposes a new imaging technique for near real time multispectral acquisition using CCD RGB cameras of the so called "Degree Of Polarization" (DOP) in polarimetry for future clinical investigation. The aim of exploiting the DOP as the contrast element is to demonstrate that the elliptical DOP provides more information characterizing complex medium than the more traditional linear and circular ones. The system considers an incoherent input white light beam and opportunely calibrated nematic crystals (LCVR), so no mechanical tools are necessary. The particular features of the system indicate it to be the perfect candidate for a new imaging system considering in-vivo (as well as ex-vivo) non invasive superficial diagnostic for medical application as dermatologic diagnostics, since no type of sample preparation is necessary, i.e. tissue biopsy, radiation or contrast agent injection. Thus the biomedical application of this method suggests a simple, direct, fast and also easily exploitable future employment, as a desirable mean for clinical investigation but also for digital recognition in biometrics. Further new elements to improve the model of light scattering and matter-light interaction will be acquired, in particular considering a very complete characterization of the system response using latex microspheres suspension to simulate turbid media with different concentration.

  2. Laser diagnodent: a comparative study with other diagnostic techniques; Laser diagnodent: estudo comparativo com outras tecnicas de diagnostico

    Energy Technology Data Exchange (ETDEWEB)

    Godinho, Reugma Rego

    2002-07-01

    An evaluation of the Diagnodent equipment (Kavo Company, Germany) for the occlusal caries detection was dane through the comparison with other conventional diagnostic techniques, such as visual inspection, intra-oral micro camera and digital X-ray. The effectiveness of the equipment in the detection of hidden caries and its viability as a diagnosis method for caries in their initial stage was also studied. Fifty eight permanent molars and premolars teeth from patients with age between 6 and 30 years were studied. The obtained results indicated that the conventional methods employed for the caries diagnosis are unable to detect the carious lesion in its initial stage. The Diagnodent equipment has this capability to detect caries presenting a flawless surface, specially the hidden caries, allowing the dentist to decide between a preventive ar a conservative procedure. The main advantage of the Diagnodent is to be an objective method, compared to the visual and radiographic ones, that are dependent on the professional interpretation. The Diagnodent is, therefore, a promising alternative as an objective and standardized diagnosis method for the final diagnostic. (author)

  3. An evaluation of diagnostic techniques utilized in the initial workup of pediatric patients with acute lymphocytic leukemia.

    Science.gov (United States)

    Kuntz, D J; Leonard, J C; Nitschke, R M; Vanhoutte, J J; Wilson, D A; Basmadjian, G P

    1984-07-01

    The records of 32 pediatric patients with acute lymphocytic leukemia (ALL) were reviewed to evaluate the role of various diagnostic techniques used to assess the extent of extramedullary disease. Our findings indicate that adequate screening for hepatosplenomegaly is obtained by clinical assessment and for bone and renal involvement by bone scintigraphy including concomitant renal imaging. We recommend that radiographs be restricted to scintigraphically abnormal areas and/or sites of bone pain. Liver-spleen scintigraphy, gallium studies, intravenous pyelography, and ultrasound studies of the abdomen and pelvis should be utilized only to answer specific clinical questions. Evaluation in this manner reduces both radiation exposure and patient expense, while it adequately defines the extent of disease in these organs.

  4. Fuel Cell Manufacturing Diagnostic Techniques: IR Thermography with Reactive Flow through Excitation

    Energy Technology Data Exchange (ETDEWEB)

    Manak, A. J.; Ulsh, M.; Bender, G.

    2012-01-01

    While design and material considerations for PEMFCs have a large impact on cost, it is also necessary to consider a transition to high volume production of fuel cell systems, including MEA components, to enable economies of scale and reduce per unit cost. One of the critical manufacturing tasks is developing and deploying techniques to provide in‐process measurement of fuel cell components for quality control. This effort requires a subsidiary task: The study of the effect of manufacturing defects on performance and durability with the objective to establish validated manufacturing tolerances for fuel cell components. This work focuses on the development of a potential quality control method for gas diffusion electrodes (GDEs). The method consists of infrared (IR) thermography combined with reactive flow through (RFT) excitation. Detection of catalyst loading reduction defects in GDE catalyst layers will be presented.

  5. Diagnostic radiography in orthopedics. Focusing techniques; 3. new rev. ed.; Orthopaedische Roentgendiagnostik. Einstelltechnik

    Energy Technology Data Exchange (ETDEWEB)

    Bernau, A.

    1995-12-31

    After the introductory chapters dealing inter alia with approaches to defining the imaging tasks in relation to the anatomical regions to be exposed, and the relevant positioning, or aspects of radiological protection, positioning aids, and image optimization, the textbook presents a comprehensive guide to good imaging based on the functional approach commonly used in orthopedics, showing and explaining standard radiographs of the skeleton. The main aspect in this richly illustrated key part of the book is the focusing techniques best suitable for imaging the skull, the spine, the thorax and shoulders, the upper limbs, the pelvic region, and the lower limbs. (MG). 577 figs. [Deutsch] Nach einleitenden Kapiteln, die sich u.a. mit der anatomischen Orientierung, Strahlenschutzaspekten, Lagerungshilfen und Bildoptimierung befassen, wird eine der funktionellen Betrachtungsweise in der Orthopaedie angepasste Normierung der Skelettaufnahmen versucht. Dieser sich mit der Einstelltechnik befassende Hauptteil gliedert sich in die Bereiche Schaedel, Wirbelsaeule, Brustkorb und Schulterguertel, obere Extremitaeten, Beckenguertel sowie untere Extremitaeten. (MG)

  6. Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations

    Science.gov (United States)

    Zeevi, David A.; Altarescu, Gheona; Weinberg-Shukron, Ariella; Zahdeh, Fouad; Dinur, Tama; Chicco, Gaya; Herskovitz, Yair; Renbaum, Paul; Elstein, Deborah; Levy-Lahad, Ephrat; Rolfs, Arndt; Zimran, Ari

    2015-01-01

    BACKGROUND. Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of monogenic disease. Family-specific haplotype assembly is essential for accurate diagnosis of minuscule amounts of circulating cell-free fetal DNA; however, current haplotyping techniques are too time-consuming and laborious to be carried out within the limited time constraints of prenatal testing, hampering practical application of NIPD in the clinic. Here, we have addressed this pitfall and devised a universal strategy for rapid NIPD of a prevalent mutation in the Ashkenazi Jewish (AJ) population. METHODS. Pregnant AJ couples, carrying mutation(s) in GBA, which encodes acid β-glucosidase, were recruited at the SZMC Gaucher Clinic. Targeted next-generation sequencing of GBA-flanking SNPs was performed on peripheral blood samples from each couple, relevant mutation carrier family members, and unrelated individuals who are homozygotes for an AJ founder mutation. Allele-specific haplotypes were constructed based on linkage, and a consensus Gaucher disease–associated founder mutation–flanking haplotype was fine mapped. Together, these haplotypes were used for NIPD. All test results were validated by conventional prenatal or postnatal diagnostic methods. RESULTS. Ten parental alleles in eight unrelated fetuses were diagnosed successfully based on the noninvasive method developed in this study. The consensus mutation–flanking haplotype aided diagnosis for 6 of 9 founder mutation alleles. CONCLUSIONS. The founder NIPD method developed and described here is rapid, economical, and readily adaptable for prenatal testing of prevalent autosomal recessive disease-causing mutations in an assortment of worldwide populations. FUNDING. SZMC, Protalix Biotherapeutics Inc., and Centogene AG. PMID:26426075

  7. MDR-TB screening in a setting with molecular diagnostic techniques: who got tested, who didn't and why?

    Science.gov (United States)

    Shewade, H D; Govindarajan, S; Sharath, B N; Tripathy, J P; Chinnakali, P; Kumar, A M V; Muthaiah, M; Vivekananda, K; Paulraj, A K; Roy, G

    2015-06-21

    Contexte : Programme national révisé de Lutte contre la Tuberculose, Pondichéry, Inde, avec une structure de techniques de diagnostic moléculaire.Objectif : Déterminer l'abandon préalable au diagnostic et préalable au traitement et leurs raisons parmi des patients présumés atteints de tuberculose multirésistante (TB-MDR).Méthodes : Dans cette étude utilisant plusieurs méthodes, l'élément quantitatif consistait en une analyse de cohorte rétrospective, grâce à une revue de dossiers, de tous les patients présumés atteints de TB-MDR entre octobre 2012 et septembre 2013. L'élément qualitatif incluait des entretiens approfondis avec des informateurs clés impliqués dans la gestion programmatique des services de TB pharmacorésistante.Résultats : Sur 341 patients présumés TB-MDR éligibles, le taux d'abandon avant le diagnostic et avant le traitement a été de 45,5% (155/341) et 29% (2/7), respectivement. Les patients atteints de TB extra-pulmonaire (RR = 2,3), de coïnfection par le virus de l'immunodéficience humaine et TB (RR = 1,7), inscrits entre octobre et décembre 2012 (RR = 1,3) et identifiés à partir de centres de santé primaires/secondaires (RR = 1,8) avaient moins de chances d'être testés. Les thèmes qui ont émergé lors de l'analyse des données qualitatives ont été « l'absence d'un mécanisme systématique de suivi des patients référés pour culture et test de pharmaco sensibilité », « l'absence de services de coursier pour transporter les crachats », « le manque de connaissances et d'appropriation du personnel de santé en général », « les ruptures de stock de kits de diagnostic » et « la non-adhérence du patient ».Conclusion : En dépit de l'introduction de techniques de diagnostic moléculaire, les problèmes opérationnels de dépistage de la TB-MDR restent préoccupants et requièrent une attention urgente.

  8. Diagnostic imaging of the breast. Examination techniques, appearances, differential diagnosis and interventiones. 3. compl. rev. ed.; Bildgebende Mammadiagnostik. Untersuchungstechnik, Befundmuster, Differenzialdiagnose und Interventionen

    Energy Technology Data Exchange (ETDEWEB)

    Heywang-Koebrunner, Sylvia H. [Referenzzentrum Mammographie, Muenchen (Germany).; Schreer, Ingrid [Radiologische Allianz, Hamburg (Germany).

    2015-07-01

    The book on diagnostic imaging of the breast covers the following topics: Part I: Techniques: anamnesis and dialogue, clinical indications, mammography, sonography, nuclear magnetic resonance imaging, new imaging techniques, image clarification and percutaneous breast biopsy, preoperative marking. Part II: Appearance: the normal mamma, benign mamma modifications, cysts, benign tumors, inflammatory diseases, lesions with uncertain biological potential (B3 lesions), in-situ carcinoma, invasive carcinoma. Lymph nodes, other semi-malign and malign tumors, post-traumatic, post-operative and post-therapeutic changes, imaging diagnostics for breast implants, skin changes, the male breast. Part III: Use of imaging breast diagnostics: continuative diagnostics of screening indications and problem solution for the symptomatic patient.

  9. Prenatal identification of i(Yp) by molecular cytogenetic analysis

    Energy Technology Data Exchange (ETDEWEB)

    Wang, B.T.; Peng, W.; Williams, J. III [Prenatal Diagnostic Center of Southern California Inc., Beverly Hills, CA (United States)] [and others

    1994-09-01

    An isochromosome derived from the short arm of the Y chromosome, i(Yp), is a rare marker chromosome. Its de novo presence prenatally represents a diagnostic dilemna since its impact on fetal development is difficult to predict. We present a case of 46,X,+i(Yp) de novo detected in an amniotic fluid specimen received for karyotype analysis. Fluorescence in situ hybridization (FISH) studies using a panel of Y-specific biotinylated DNA probes including a Y-centromere probe, a Y whole chromosome painting probe, and a lambda HAM2 probe containing 19 kb of AMG-Y sequence, located to Yp11.2, have identified the marker chromosome as i(Yp). The breakpoint on this marker chromosome is tentatively assigned to Yq11.1 which is close to the centromere. The present report illustrates the importance of FISH techniques as a complement to cytogenetic methods for accurate identification of chromosome rearrangements in prenatal diagnosis and genetic counseling.

  10. Cardiovascular dysfunction in obesity and new diagnostic imaging techniques: the role of noninvasive image methods

    Directory of Open Access Journals (Sweden)

    Barbosa JA

    2011-05-01

    Full Text Available José Augusto A Barbosa¹, Alexandre B Rodrigues¹, Cleonice Carvalho C Mota¹, Márcia M Barbosa², Ana C Simões e Silva¹¹Department of Pediatrics, Faculty of Medicine, Federal University of Minas Gerais (UFMG, Belo Horizonte, Minas Gerais, Brazil; ²Ecocenter, Socor Hospital, Belo Horizonte, Minas Gerais, BrazilAbstract: Obesity is a major public health problem affecting adults and children in both developed and developing countries. This condition often leads to metabolic syndrome, which increases the risk of cardiovascular disease. A large number of studies have been carried out to understand the pathogenesis of cardiovascular dysfunction in obese patients. Endothelial dysfunction plays a key role in the progression of atherosclerosis and the development of coronary artery disease, hypertension and congestive heart failure. Noninvasive methods in the field of cardiovascular imaging, such as measuring intima-media thickness, flow-mediated dilatation, tissue Doppler, and strain, and strain rate, constitute new tools for the early detection of cardiac and vascular dysfunction. These techniques will certainly enable a better evaluation of initial cardiovascular injury and allow the correct, timely management of obese patients. The present review summarizes the main aspects of cardiovascular dysfunction in obesity and discusses the application of recent noninvasive imaging methods for the early detection of cardiovascular alterations.Keywords: cardiovascular risk, endothelium dysfunction, obesity, strain and strain rate, tissue Doppler

  11. Foetal radiography for suspected skeletal dysplasia: technique, normal appearances, diagnostic approach

    Energy Technology Data Exchange (ETDEWEB)

    Calder, Alistair D. [Great Ormond Street Hospital for Children NHS Foundation Trust, Radiology Department, London (United Kingdom); Offiah, Amaka C. [Sheffield Children' s NHS Foundation Trust, Academic Unit of Child Health, Sheffield (United Kingdom)

    2015-04-01

    Despite advances in antenatal imaging and genetic techniques, post-delivery post-mortem foetal radiography remains the key investigation in accurate diagnosis of skeletal dysplasia manifesting in the foetus. Foetal radiography is best performed using pathology-specimen radiography equipment and is often carried out in the pathology department without involvement of the radiology unit. However, paediatric radiologists may be asked to interpret post-mortem foetal radiographs when an abnormality is suspected. Many foetal radiographs are carried out before 20 weeks' gestation, and the interpreting radiologist needs to be familiar with the range of normal post-mortem foetal appearances at different gestational ages, as well as the appearances of some of the more commonly presenting skeletal dysplasias, and will benefit from a systematic approach when assessing more challenging cases. In this pictorial essay, we illustrate various normal post-mortem foetal radiographic appearances, give examples of commonly occurring skeletal dysplasias, and describe an approach to establishing more difficult diagnoses. (orig.)

  12. Laser flash photolysis studies of atmospheric free radical chemistry using optical diagnostic techniques

    Science.gov (United States)

    Wine, Paul H.; Nicovich, J. M.; Hynes, Anthony J.; Stickel, Robert E.; Thorn, R. P.; Chin, Mian; Cronkhite, Jeffrey A.; Shackelford, Christie J.; Zhao, Zhizhong; Daykin, Edward P.

    1993-01-01

    Some recent studies carried out in our laboratory are described where laser flash photolytic production of reactant free radicals has been combined with reactant and/or product detection using time-resolved optical techniques to investigate the kinetics and mechanisms of important atmospheric chemical reactions. Discussed are (1) a study of the radical-radical reaction O + BrO yields Br + O2 where two photolysis lasers are employed to prepare the reaction mixture and where the reactants O and BrO are monitored simultaneously using atomic resonance fluorescence to detect O and multipass UV absorption to detect BrO; (2) a study of the reaction of atomic chlorine with dimethylsulfide (CH3SCH3) where atomic resonance fluorescence detection of Cl is employed to elucidate the kinetics and tunable diode laser absorption spectroscopy is employed to investigate the HCl product yield; and (3) a study of the aqueous phase chemistry of Cl2(-) radicals where longpath UV absorption spectroscopy is employed to investigate the kinetics of the Cl2(-) + H2O reaction.

  13. The Positron Emission Tomography. A diagnostic technique; Con la PET diagnosi precoce della malattia

    Energy Technology Data Exchange (ETDEWEB)

    Salvadori, P. [Consiglio Nazionale delle Ricerche, Istituto di Fisiologia Clinica, Chimica e Radiofarmaceutica, Gruppo PET/Ciclotrone, Pisa (Italy)

    2001-07-01

    Positron Emission Tomography (PET) is a new imaging modality, which is able to assess non-invasively the biochemical mechanisms, underlying physiological and pathophysiological processes in vivo in humans. The technique relies on the administration of radioactive tracers labeled with short-lived positron emitters, which need to be produced on site via a particle accelerator (cyclotron). Radionuclides are produced upon request and formulated into biologically active organic molecules having precise pharmacokinetics and specificity. The radiotracer can be detected by the PET scanner and represented as tomographic sections (images of body sections) showing its regional distribution and concentration. This makes it possible to address clinical questions concerning occurrence and evolution of many diseases as well as their response to therapy. The ability to image (measure) biological processes and not only anatomy enables PET to explore diseases in the very early stage, including those diseases which are not related to modifications of organ structure (e.g. psychiatric diseases, metabolic disorders, biochemical disfunction). PET plays a major role, in conjunction with the other imaging modalities, to improve diagnosis capabilities and disease mechanism understanding. [Italian] La PET e' correntemente utilizzata come efficace strumento clinico, per l'elevata sensibilita' e specificita', nella valutazione dell'iter diagnostico di pazienti con sospetta cardiopatia ischemica e nel processo di decision making clinico di pazienti con disfunzione ventricolare sinistra e cardiopatia ischemica, in quanto metodica di riferimento per la diagnosi di vitalita' miocardica. In campo oncologico, viene impiegata l'ormai ben documentata capacita' del fluorodesossiglucosio (FDG), un tracciante contenente fluoro-18 ed in grado di permettere la misura del consumo cellulare di glucosio, nel porre in evidenza all'esame PET il tessuto neoplastico

  14. Prenatal imaging of amniotic band sequence: utility and role of fetal MRI as an adjunct to prenatal US

    Energy Technology Data Exchange (ETDEWEB)

    Neuman, Jeremy [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Staten Island University Hospital, Department of Radiology, Staten Island, NY (United States); Calvo-Garcia, Maria A.; Kline-Fath, Beth M.; Bitters, Constance; Merrow, Arnold C.; Guimaraes, Carolina V.A. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Lim, Foong-Yen [Cincinnati Children' s Hospital Medical Center, Department of Fetal Surgery, Cincinnati, OH (United States)

    2012-05-15

    Amniotic band sequence and its US manifestations have been well-described. There is little information, however, regarding the accuracy and utility of fetal MRI. To describe the MRI findings in amniotic band sequence and to compare the diagnostic accuracy of MRI and US. Prenatal MRI and US studies were retrospectively reviewed in 14 consecutive pregnancies with confirmed amniotic band sequence. Both studies were evaluated for amniotic band visualization, body part affected, type of deformity, umbilical cord involvement and vascular abnormality. Amniotic bands were confidently identified with MRI in 8 fetuses (57%), suggested with MRI in 3 fetuses (21%) and confidently seen by US in 13 fetuses (93%). Neither modality detected surgically proven bands on one fetus. Both techniques were equally able to define the body part affected and the type of deformity. At least one limb abnormality was visualized in all cases and truncal involvement was present in two cases. Cord involvement was identified in seven cases, with one case detected only by MRI. Fetal MRI is able to visualize amniotic bands and their secondary manifestations and could be complementary to prenatal US when fetal surgery is contemplated. (orig.)

  15. Identifying Students' Mathematical Skills from a Multiple-Choice Diagnostic Test Using an Iterative Technique to Minimise False Positives

    Science.gov (United States)

    Manning, S.; Dix, A.

    2008-01-01

    There is anecdotal evidence that a significant number of students studying computing related courses at degree level have difficulty with sub-GCE mathematics. Testing of students' skills is often performed using diagnostic tests and a number of computer-based diagnostic tests exist, which work, essentially, by testing one specific diagnostic skill…

  16. Prenatal Care Services in Aydin Province

    Directory of Open Access Journals (Sweden)

    Erdal BESER

    2007-04-01

    Full Text Available Aim of the study was to evaluate the quality and quantity of prenatal care in Aydin province. It was a cross-sectional study. 195 women (pregnant/women at postpartum period living in the Aydin province participated in the study. Cluster and simple random sampling method was used in the selection of women from 10 health centers (one rural-one urban health station each. Data obtained by face to face interview technique. Turkey Demografic Health Survey criteria were used for evaluation of the quantity of prenatal care as “sufficient” or “insufficient” and quality of prenatal care was scored as “1-2”(bad, “3-4”(moderate and “5-6”(good. Chi-square, Mann Whitney-U and t tests were used for analysis. One fifth of each pregnant women who were in last trimester and 11.3% of women in postpartum period stated that they were not followed up by an health personnel during pregnancy. One third of pregnant women who were in last trimester and 58.5% of women in postpartum period said they weren’t visited by an health personnel in the first trimester. Besides, quality points of prenatal care were found low, both in pregnant women and women in post partum period. It was found that living in urban areas, high education level and presence of social security effected getting adequate prenatal care. The quality and quantity of prenatal care was found less than expected in Aydin province which is located in the western region of Turkey. It is necessary that, health personnel must be more sensitive to convey “adequate” prenatal care especially women who are living in rural areas, who have low educational level and who have no social security. [TAF Prev Med Bull 2007; 6(2.000: 137-141

  17. Prenatal Care Services in Aydin Province

    Directory of Open Access Journals (Sweden)

    Erdal BESER

    2007-04-01

    Full Text Available Aim of the study was to evaluate the quality and quantity of prenatal care in Aydin province. It was a cross-sectional study. 195 women (pregnant/women at postpartum period living in the Aydin province participated in the study. Cluster and simple random sampling method was used in the selection of women from 10 health centers (one rural-one urban health station each. Data obtained by face to face interview technique. Turkey Demografic Health Survey criteria were used for evaluation of the quantity of prenatal care as “sufficient” or “insufficient” and quality of prenatal care was scored as “1-2”(bad, “3-4”(moderate and “5-6”(good. Chi-square, Mann Whitney-U and t tests were used for analysis. One fifth of each pregnant women who were in last trimester and 11.3% of women in postpartum period stated that they were not followed up by an health personnel during pregnancy. One third of pregnant women who were in last trimester and 58.5% of women in postpartum period said they weren’t visited by an health personnel in the first trimester. Besides, quality points of prenatal care were found low, both in pregnant women and women in post partum period. It was found that living in urban areas, high education level and presence of social security effected getting adequate prenatal care. The quality and quantity of prenatal care was found less than expected in Aydin province which is located in the western region of Turkey. It is necessary that, health personnel must be more sensitive to convey “adequate” prenatal care especially women who are living in rural areas, who have low educational level and who have no social security. [TAF Prev Med Bull. 2007; 6(2: 137-141

  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. Prenatal Programming and Toxicity (PPTOX) Introduction.

    Science.gov (United States)

    Birnbaum, Linda S; Miller, Mark F

    2015-10-01

    The developmental origin of health and disease hypothesis posits that early-life exposures, including prenatal, can influence disease outcomes throughout the entire lifespan of an organism. Over the past 30 years, scientific researchers have compiled robust epidemiological and mechanistic data showing the effects of early-life nutrition, chemical exposures, and stress on prenatal programing and toxicity. Using novel techniques in genomics and epigenetics, science is now establishing strong links between low-level early-life environmental exposures and the later development of noncommunicable diseases, such as cardiovascular disease, obesity, diabetes, neurodevelopmental and neurodegenerative disease, reproductive effects, immune system function and cancer. Now scientists must engage with communities, industry, policy makers, and clinicians to leverage our newfound understanding of prenatal programing and toxicity into better health outcomes across the lifespan.

  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. Comparison of four diagnostic techniques for detection of Trichomonas vaginalis infection in females attending tertiary care hospital of North India

    Directory of Open Access Journals (Sweden)

    Razia Khatoon

    2015-01-01

    Full Text Available Background: Trichomonas vaginalis causes a common sexually transmitted disease trichomoniasis, which may lead to increased risk of transmission of human immunodeficiency virus infection and other pelvic inflammatory diseases. Wet mount examination is the most common test for diagnosis, but it has low sensitivity. Acridine orange staining can be used for diagnosis, but it requires special microscopic facility. Culture is considered as the gold standard, but it takes a long time for diagnosis. OSOM Trichomonas Rapid Test is a recently introduced rapid method based on immunochromatographic assay of trichomonal protein antigens. Hence, the present study was done to compare these four diagnostic techniques for detection of trichomoniasis in females with vaginal discharge. Materials and Methods: Vaginal swabs were taken from 835 female patients and wet mount examination, acridine orange staining, culture in Kupferberg medium, and OSOM Trichomonas Rapid Test, were performed. Results: Out of 835 patients included in our study, 68 (8.1% positive cases of trichomoniasis were detected by culture. OSOM Trichomonas Rapid Test detected 63 (7.5% cases, acridine orange staining detected 53 (6.3% cases, whereas, wet mount examination detected only 45 (5.4% positive cases. OSOM Trichomonas Rapid Test performed well and showed high sensitivity and specificity of 88.2% and 99.6%, respectively. Conclusion: As OSOM Trichomonas Rapid Test is a point of care test and gave better results than both wet mount examination and acridine orange staining; it can be used as a routine test in peripheral areas lacking laboratory facilities.

  3. Correlation of acoustic emission with normal zone occurrence in epoxy-impregnated windings: An application of acoustic emission diagnostic technique to pulse superconducting magnets

    Energy Technology Data Exchange (ETDEWEB)

    Tsukamoto, O.; Iwasa, Y.

    1984-05-01

    We report results of experiments correlating acoustic emission (AE) data to the presence of normal zones in epoxy-impregnated windings. The results suggest the feasibility of using AE sensors to determine whether or not a superconducting magnet has been driven normal after a rapid discharge. This AE diagnostic technique may be particularly valuable in application to pulse magnets.

  4. Aneurysmal bone cyst: revision of different techniques in imaging diagnostic. Quiste oseo aneurismatico: revision de diferentes tecnicas de diagnostico por la imagen

    Energy Technology Data Exchange (ETDEWEB)

    Parra Blanco, J.A.; Fernandez Echevarria, M.A.; Pagola Serrano, M.A.; Vara Vara, A.; Gonzalez Tutor, A. (Hospital Universitario ' ' Marques de Valdecilla' ' . Servicio de Radiodiagnostico. Santander (Spain))

    1993-05-01

    We study simple radiology, conventional tomography, computed tomography and angiography in 8 cases of aneurysmal bone cyst for the purpose of assessing the utility of these diagnostic techniques. Our results, in agreement with those in the literature, indicate that the presence of a generally well-defined lytic, insufflated lesion containing septi should suggest this disorder. (Author)

  5. Field and laboratory comparative evaluation of rapid malaria diagnostic tests versus traditional and molecular techniques in India

    Directory of Open Access Journals (Sweden)

    Bharti Praveen K

    2010-07-01

    Full Text Available Abstract Background Malaria presents a diagnostic challenge in most tropical countries. Microscopy remains the gold standard for diagnosing malaria infections in clinical practice and research. However, microscopy is labour intensive, requires significant skills and time, which causes therapeutic delays. The objective of obtaining result quickly from the examination of blood samples from patients with suspected malaria is now made possible with the introduction of rapid malaria diagnostic tests (RDTs. Several RDTs are available, which are fast, reliable and simple to use and can detect Plasmodium falciparum and non-falciparum infections or both. A study was conducted in tribal areas of central India to measure the overall performance of several RDTs for diagnosis of P. falciparum and non-falciparum infections in comparison with traditional and molecular techniques. Such data will be used to guide procurement decisions of policy makers and programme managers. Methods Five commercially available RDTs were tested simultaneously in field in parallel with peripheral blood smears in outbreak-affected areas. The evaluation is designed to provide comparative data on the performance of each RDT. In addition, molecular method i.e. polymerase chain reaction (PCR was also carried out to compare all three methods. Results A total of 372 patients with a clinical suspicion of malaria from Bajag Primary Health Centre (PHC of district Dindori and Satanwada PHC of district Shivpuri attending the field clinics of Regional Medical Research Centre were included in the study. The analysis revealed that the First Response Malaria Antigen pLDH/HRP2 combo test was 94.7% sensitive (95% CI 89.5-97.7 and 69.9% specific (95% CI 63.6-75.6 for P. falciparum. However, for non-falciparum infections (Plasmodium vivax the test was 84.2% sensitive (95% CI 72.1-92.5 and 96.5% specific (95% CI 93.8-98.2. The Parascreen represented a good alternative. All other RDTs were relatively

  6. 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

  7. Indications and technique of fetal magnetic resonance imaging; Indikationen und Technik der fetalen Magnetresonanztomographie

    Energy Technology Data Exchange (ETDEWEB)

    Asenbaum, U.; Woitek, R.; Furtner, J.; Prayer, D. [Medizinische Universitaet Wien, Abteilung fuer Neuroradiologie und Muskuloskelettale Radiologie, Universitaetsklinik fuer Radiodiagnostik, Wien (Austria); Brugger, P.C. [Medizinische Universitaet Wien, Zentrum fuer Anatomie und Zellbiologie, Wien (Austria)

    2013-02-15

    Evaluation and confirmation of fetal pathologies previously suspected or diagnosed with ultrasound. Ultrasound and magnetic resonance imaging (MRI). Technique for prenatal fetal examination. Fetal MRI is an established supplementary technique to prenatal ultrasound. Fetal MRI should only be used as an additional method in prenatal diagnostics and not for routine screening. Fetal MRI should only be performed in perinatal medicine centers after a previous level III ultrasound examination. (orig.) [German] Evaluierung und Bestaetigung von im praenatalen Ultraschall entdeckten Pathologien. Ultraschall und Magnetresonanztomographie. Praenatale Untersuchungsmethode. Die fetale MRT ist inzwischen als ergaenzende Methode zum praenatalen Ultraschall anerkannt. Die fetale MRT soll als additive Methode bei klinischer Relevanz, nicht jedoch als Routinescreeningverfahren waehrend der Schwangerschaft angewendet werden. Durchfuehrung ausschliesslich an einem Perinatalzentrum nach vorangegangenem Level-III-Ultraschall. (orig.)

  8. 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 & ...

  9. 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- ...

  10. 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- ...

  11. 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) )...

  12. 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.

  13. 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.).

  14. Prenatal diagnosis in multiple pregnancy.

    Science.gov (United States)

    Taylor, M J; Fisk, N M

    2000-08-01

    Fetal abnormality is more common in multiple than in singleton pregnancies. This, together with the requirement to consider the risks with at least two babies to sample correctly each fetus and to undertake accurately-targeted selective termination, amounts to a major challenge for obstetricians involved in prenatal diagnosis. Early determination of chorionicity should be routine, since this influences not only the genetic risks but also the invasive procedure chosen for karyotyping or genotyping. Assessment of nuchal translucency identifies individual fetuses at risk of trisomy. Contrary to expectation, invasive procedures in twins appear to have procedure-related miscarriage rates that are similar to those in singletons. Instead, contamination remains a concern at chorionic villus sampling. Elective late karyotyping of fetuses may have a role in some countries. Whereas management options for discordant fetal abnormality are relatively straightforward in dichorionic pregnancies, monochorionic pregnancies are at risk of co-twin sequelae after any single intrauterine death. Techniques have now been developed to occlude completely the cord vasculature by laser and/or ultrasound guided bipolar diathermy. Given the complexities associated with prenatal diagnosis, all invasive procedures in multiple pregnancies should be performed in tertiary referral centres. Copyright 2000 Harcourt Publishers Ltd.

  15. Assessment of the usefulness of a diagnostic test: A survey of patient preference for diagnostic techniques in the evaluation of intestinal inflammation

    Directory of Open Access Journals (Sweden)

    Pavel Dan

    2001-06-01

    Full Text Available Abstract Background In order to assess the usefulness of radiolabeled white cell scanning in the diagnosis of intestinal inflammation, subjects were asked to rank several dimensions of preference for white cell scanning in relation to other diagnostic tests. Two groups were surveyed: one known to have inflammatory bowel disease and the second not familiar in most cases with the tests. Subjects were asked to rank preference for each of seven tests: radiolabeled white cell scan, colonoscopy, barium enema, sigmoidoscopy, enteroclysis, stool analysis and laparotomy for the diagnosis of IBD and impressions of discomfort, embarrassment, inconvenience and danger related to each test. Mean rank scores were calculated, test ranks compared within groups and significance determined by the Wilcoxon rank test. Results Significant differences were seen in overall preference for white cell scan over barium enema and colonoscopy (p Conclusion This patient preference combined with the reported accuracy of white cell scanning further establishes the usefulness of this means of IBD diagnosis.

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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...

  1. The detection of lumpy skin disease virus in samples of experimentally infected cattle using different diagnostic techniques

    Directory of Open Access Journals (Sweden)

    E.S.M. Tuppurainen

    2005-09-01

    Full Text Available Lumpy skin disease (LSD is a disease of cattle, primarily in Africa and Madagascar and rarely in the Middle East. It is caused by a capripoxvirus that belongs to the family Poxviridae. The disease is of economic importance in endemic areas. Effective control of LSD requires accurate and rapid laboratory techniques to confirm a tentative clinical diagnosis. Comparative studies on different diagnostic tests used at different stages of the disease have not been done. The aim of this study was to compare several of these tests. Six seronegative bulls, between 11 and 20 months of age, were infected intravenously and kept in an insect-free facility. The course of the infection was monitored. During a 3-month period blood samples and skin biopsies were collected for virus isolation and polymerase chain reaction (PCR. Skin biopsies were also examined using transmission electron microscopy (TEM. The incubation period in infected animals varied from 4-5 days. The length of the viraemic period did not correlate with the severity of clinical disease. Viraemia was detected from 1-12 days using virus isolation and from 4-11 days using the PCR, which is longer than has previously been reported. Virus was isolated from skin biopsies until Day 39 post infection (p.i. and PCR could demonstrate viral DNA until Day 92 p.i. Transmission electron microscopy of negatively stained skin biopsies detected LSD virus only in one of the four bulls that developed skin lesions until Day 33 p.i. The PCR was a fast and sensitive method to demonstrate viral DNA in blood and skin samples. It could detect viral nucleic acid in skin lesions 53 days longer than virus isolation. Virus isolation from blood and skin samples was sensitive and reliable, but as a single test it may be too time-consuming to use although this depends on how rapidly the diagnosis must be confirmed. In conclusion, this study showed the PCR to be superior in detecting LSD virus from blood and skin samples

  2. Prenatal exclusion of severe combined immunodeficiency

    OpenAIRE

    Levinsky, R J; Linch, D. C.; Beverly, C L; Rodeck, C.

    1982-01-01

    By analysing leucocyte subpopulations with monoclonal antisera, we have shown that the diagnosis of severe combined immunodeficiency can be made soon after birth. The technique of staining has been adapted for small blood samples, and normal ranges of leucocyte subpopulations have been established for fetal blood taken from mid-trimester pregnancies. Using this information, we gave prenatal advice to an at risk family and predicted that the pregnancy would be normal; this was confirmed after ...

  3. 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.

  4. Diagnostic performance of state-of-the-art imaging techniques for morphological assessment of vascular abnormalities in patients with chronic thromboembolic pulmonary hypertension (CTEPH)

    Energy Technology Data Exchange (ETDEWEB)

    Ley, Sebastian [University Hospital Heidelberg, Department of Diagnostic and Interventional Radiology, Heidelberg (Germany); Ley-Zaporozhan, Julia [University Hospital Heidelberg, Department of Diagnostic and Interventional Radiology, Heidelberg (Germany); Johannes Gutenberg University, Department of Diagnostic and Interventional Radiology; Universitaetsmedizin, Mainz (Germany); Pitton, Michael B.; Schneider, Jens; Wirth, Gesine M.; Dueber, Christoph; Kreitner, Karl-Friedrich [Johannes Gutenberg University, Department of Diagnostic and Interventional Radiology; Universitaetsmedizin, Mainz (Germany); Mayer, Eckhard [Kerckhoff-Hospital Bad Nauheim, Department of Thoracic Surgery, Bad Nauheim (Germany)

    2012-03-15

    To determine the most comprehensive imaging technique for the assessment of pulmonary arteries in patients with chronic thromboembolic pulmonary hypertension (CTEPH). 24 patients with CTEPH were examined by ECG-gated multi-detector CT angiography (MD-CTA), contrast-enhanced MR angiography (ce-MRA) and selective digital subtraction angiography (DSA) within 3 days. Two readers in consensus separately evaluated each imaging technique (48 main, 144 lobar and 449 segmental arteries) for typical changes like complete obstructions, vessel cut-offs, intimal irregularities, incorporated thrombus formations, and bands and webs. A joint interpretation of all three techniques served as a reference standard. Based on image quality, there was no non-diagnostic examination by either imaging technique. DSA did not sufficiently display 1 main, 3 lobar and 4 segmental arteries. The pulmonary trunk was not assessable by DSA. One patient showed thrombotic material at this level only by MD-CTA and MRA. Sensitivity and specificity of MD-CTA regarding CTEPH-related changes at the main/lobar and at the segmental levels were 100%/100% and 100%/99%, of ce-MRA 83.1%/98.6% and 87.7%/98.1%, and of DSA 65.7%/100% and 75.8%/100%, respectively. ECG-gated MD-CTA proved the most adequate technique for assessment of the pulmonary arteries in the diagnostic work-up of CTEPH patients. (orig.)

  5. 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.

  6. Optimized design of shields for diagnostic X rays with NCRP 147 technique; Diseno optimizado de blindajes para rayos X diagnostico con tecnica NCRP 147

    Energy Technology Data Exchange (ETDEWEB)

    Gama T, G. [Calidad XXI SA de CV, Zacatecas 67-007 Col. Roma, 06700 Mexico D.F. (Mexico)]. e-mail: cxxi@prodigy.net.mx

    2006-07-01

    A comparison among the design techniques of shielding for X-ray diagnostic rooms with the NCRP 49 (1976) report technique, AAPM 39 (1993) Y the one of the NCRP 147 (2005) technique. The designs correspond to a room of conventional X-rays, one of fluoroscopy, one of tomography Y one of mammography. In all the cases it demonstrates that the NCRP 49 technique overestimate the shieldings. The causes of the overestimation of the NCRP 49 can be attributed to: a) high values of the work charge that don't consider the spectral fluence of the photons that are present in each room, b) to the differences in the values of the kerma in air without attenuation for the dispersed primary radiation Y of leakage among both reports. (Author)

  7. A pilot study using laser-based technique for non-invasive diagnostics of hypertensive conditions in mice

    Science.gov (United States)

    Litvinova, Karina S.; Ahmad, Shakil; Wang, Keqing; Rafailov, Ilya E.; Sokolovski, Sergei G.; Zhang, Lin; Rafailov, Edik U.; Ahmed, Asif

    2016-02-01

    Endothelial dysfunction is directly linked to preeclampsia, a maternal hypertensive condition that is life threating for both the mother and the baby. Epidemiological studies show that women with a history of pre-eclampsia have an elevated risk for cardiovascular disease. Here we report a new non-invasive diagnostic test for preeclampsia in mice that allows us to non-invasively assess the condition of the animals during the experiment and treatment in established models of preeclampsia. A laser-based multifunctional diagnostics system (LAKK-M) was chosen to carry out non-invasive analysis of multiple parameters. The device was used to simultaneously record the microcirculatory blood flow and oxygen saturation, as well as fluorescence levels of endogenous fluorophores. Preliminary experiments were conducted on adenoviral (Ad-)- mediated overexpression of sFlt-1 (Ad-sFlt-1) to mimic preeclampsialike symptoms in mice. The recorded data displayed the ability of the LAKK-M diagnostics device to detect significant differences in perfusion measurements between the control and Ad-sFlt-1 treatment. Preliminary results provide a potential avenue to employ these diagnostics technology to monitor and aid in maintaining control of live animal conditions throughout the experiment and treatment.

  8. 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

  9. 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.

  10. 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.

  11. Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study

    Directory of Open Access Journals (Sweden)

    Bhola Shama L

    2008-05-01

    Full Text Available Abstract Background In the past 30 years karyotyping was the gold standard for prenatal diagnosis of chromosomal aberrations in the fetus. Traditional karyotyping (TKT has a high accuracy and reliability. However, it is labor intensive, the results take 14–21 days, the costs are high and unwanted findings such as abnormalities with unknown clinical relevance are not uncommon. These disadvantages challenged the practice of karyotyping. Multiplex ligation-dependent probe amplification (MLPA is a new molecular genetic technique in prenatal diagnosis. Previous preclinical evidence suggests equivalence of MLPA and traditional karyotyping (TKT regarding test performance. Methods/Design The proposed study is a multicentre diagnostic substitute study among pregnant women, who choose to have amniocentesis for the indication advanced maternal age and/or increased risk following prenatal screening test. In all subjects, both MLPA and karyotyping will be performed on the amniotic fluid sample. The primary outcome is diagnostic accuracy. Secondary outcomes will be maternal quality of life, women's preferences and costs. Analysis will be intention to treat and per protocol analysis. Quality of life analysis will be carried out within the study population. The study aims to include 4500 women. Discussion The study results are expected to help decide whether MLPA can replace traditional karyotyping for 'low-risk' pregnancies in terms of diagnostic accuracy, quality of life and women's preferences. This will be the first clinical study to report on all relevant aspects of the potential replacement. Trial Registration The protocol is registered in the clinical trial register number ISRCTN47252164

  12. Fluorescence in situ hybridization(FISH) technique combined with karyotyping analysis in prenatal diagnosis%FISH技术在产前诊断中的应用价值研究

    Institute of Scientific and Technical Information of China (English)

    沈国松; 张甦; 何平亚; 方嵘

    2011-01-01

    目的 使用荧光原位杂交(FISH)技术对常见胎儿染色体数目异常进行快速诊断,结合羊水细胞培养染色体核型分析技术形成产前诊断体系,并对其临床应用价值进行评价.方法 应用诊断最常见染色体病的5种染色体(13、18、21、X和Y)特异性FISH探针对480例未经培养羊水细胞进行产前诊断,并和同时进行的羊水培养染色体核型分析相比较.结果 480例未经培养羊水细胞FISH实验全部获得检测结果,并发现21-三体综合征2例,18-三体综合征1例,克氏综合征1例,特纳综合征 1例,与羊水培养染色体分析结果一致,但报告时间(2至3d)与羊水染色体分析报告时间(2~3周)相比大为缩短.受固有技术限制有6例结构异常未能检出,但应用FISH技术对其中1例与性染色体有关的结构异常进行辅助诊断,获得了成功.结论 FISH技术在常见染色体数目异常产前诊断中应用行之有效,与羊水染色体核型分析技术相结合,将使产前诊断更加高效和安全.%To evaluate the clinical application of the combination of fluorescence in situ hybridization (FISH)technique and karyotyping analysis in prenatal diagnosis.MethodsFISH technology with the centromeric probes of chromo-some 13, 18, 21 ,X and Y was applied in 480 amniotic fluid specimens, the results were compared with those of the G banding karyotypes from standard cytogenetic analysis in cultured amniotic fluid cells.ResultsTotal 480 uncultured amniotic fluid speci-mens were successfully tested by FISH and two Down' s syndrome, one Edwards syndrome, one Klinefelter syndrome and one Turner syndrome were detected. The results obtained by FISH were consistent with those from karyotyping analysis. FISH (2-3 days) was faster than karyotyping(2-3 weeks) to get results. Karyotypes analysis detected 6 cases of chromosome structural abnormalities which were not detected by FISH, however, one of them with a sex chromosome-related structural

  13. 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.)

  14. 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.

  15. 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.

  16. Reliability of diagnostic imaging techniques in suspected acute appendicitis: proposed diagnostic protocol; Indicacion de las tecnicas de diagnostico por la imagen en la sospecha de apendicitis aguda: propuesta de protocolo diagnostico

    Energy Technology Data Exchange (ETDEWEB)

    Cura del, J. L.; Oleaga, L.; Grande, D.; Vela, A. C.; Ibanez, A. M. [Hospital de Basureto. Bilbao (Spain)

    2001-07-01

    To study the utility of ultrasound and computed tomography (CT) in case of suspected appendicitis. To determine the diagnostic yield in terms of different clinical contexts and patient characteristics. to assess the costs and benefits of introducing these techniques and propose a protocol for their use. Negative appendectomies, complications and length of hospital stay in a group of 152 patients with suspected appendicitis who underwent ultrasound and CT were compared with those of 180 patients who underwent appendectomy during the same time period, but had not been selected for the first group: these patients costs for each group were calculated. In the first group, the diagnostic value of the clinical signs was also evaluated. The reliability of the clinical signs was limited, while the results with ultrasound and CT were excellent. The incidence of negative appendectomy was 9.6% in the study group and 12.2% in the control group. Moreover, there were fewer complications and a shorter hospital stay in the first group. Among men, however, the rate of negative appendectomy was lower in the control group. The cost of using ultrasound and CT in the management of appendicitis was only slightly higher than that of the control group. Although ultrasound and CT are not necessary in cases in which the probability of appendicitis is low or in men presenting clear clinical evidence, the use of these techniques is indicated in the remaining cases in which appendicitis is suspected. In children, ultrasound is the technique of choice. In all other patients, if negative results are obtained with one of the two techniques, the other should be performed. (Author) 49 refs.

  17. Diagnosis of soil-transmitted helminths in the era of preventive chemotherapy: effect of multiple stool sampling and use of different diagnostic techniques.

    Directory of Open Access Journals (Sweden)

    Stefanie Knopp

    Full Text Available BACKGROUND: Soil-transmitted helminth infections are common throughout the tropics and subtropics and they disproportionately affect the poorest of the poor. In view of a growing global commitment to control soil-transmitted helminthiasis, there is a need to elucidate the effect of repeated stool sampling and the use of different diagnostic methods in areas targeted for preventive chemotherapy that are characterized by low-infection intensities. In this study, we focused on schoolchildren on Unguja Island, Zanzibar, an area where anthelminthic drugs have been repeatedly administered over the past decade. METHODOLOGY/PRINCIPAL FINDINGS: Three serial stool samples from each of 342 schoolchildren were examined using the Kato-Katz (K-K, Koga agar plate (KAP, and Baermann (BM techniques. These methods were used individually or in combination for the diagnosis of Ascaris lumbricoides (K-K, Trichuris trichiura (K-K, hookworm (K-K and KAP, and Strongyloides stercoralis (KAP and BM. The examination of multiple stool samples instead of a single one resulted in an increase of the observed prevalence; e.g., an increase of 161% for hookworm using the K-K method. The diagnostic sensitivity of single stool sampling ranged between 20.7% for BM to detect S. stercoralis and 84.2% for K-K to diagnose A. lumbricoides. Highest sensitivities were observed when different diagnostic approaches were combined. The observed prevalences for T. trichiura, hookworm, A. lumbricoides, and S. stercoralis were 47.9%, 22.5%, 16.5%, and 10.8% after examining 3 stool samples. These values are close to the 'true' prevalences predicted by a mathematical model. CONCLUSION/SIGNIFICANCE: Rigorous epidemiologic surveillance of soil-transmitted helminthiasis in the era of preventive chemotherapy is facilitated by multiple stool sampling bolstered by different diagnostic techniques.

  18. 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.

  19. Myocardial tagging with steady state free precession techniques and semi-automatic postprocessing--impact on diagnostic value

    DEFF Research Database (Denmark)

    Johnson, Thorsten R C; Bayrhof, Nicole; Huber, Armin

    2007-01-01

    ), and 11 patients at 3 T using GRE. Two observers graded image quality and determined the share of the cardiac cycle for which postprocessing could be performed (1, optimal; 2, little interaction; 3, whole cycle assessable; 4, diastole non-assessable; 5, systole incomplete; 6, non-diagnostic). With GRE....... With the SSFP sequence at 1.5 T and GRE at 3 T, an evaluation of the whole cardiac cycle was possible in 71% and 70% of the patients, respectively, and systole was assessable in all patients. Tagging sequences with SSFP readout at 1.5 T make a semi-automatic evaluation of the whole cardiac cycle feasible...

  20. EFDA Task TW6-TPDS-DIADEV deliverable 2: ITER Fast Ion Collective Scattering Development of diagnostic components and techniques

    DEFF Research Database (Denmark)

    Michelsen, S.; Bindslev, Henrik; Korsholm, Søren Bang;

    field side and one on the high field side, it is possible to resolve the distribution function of fast ions both for perpendicular and parallel velocities with good spatial and temporal resolution. The present work concerned a continuation of this work, and the following tasks were performed. 1...... experiment was set up in order to test and support the theoretical and numerical results. From the design studies various R&D issues critical to the viability of the CTS diagnostic on ITER were identified; the most urgent ones are addressed in the presented R&D tasks....

  1. 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

  2. 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

  3. 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.

  4. 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.

  5. 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.

  6. EFDA Task TW6-TPDS-DIADEV deliverable 2: ITER fast ion collective scattering development of diagnostic components and techniques

    Energy Technology Data Exchange (ETDEWEB)

    Michelsen, S.; Bindslev, H.; Korsholm, S.B.; Leipold, F.; Meo, F.; Michelsen, P.K.; Nielsen, A.H.; Tsakadze, E.

    2009-12-15

    In 2003 the Risoe CTS group finished a feasibility study and a conceptual design of an ITER fast ion collective Thomson scattering system. The purpose of the CTS diagnostic is to measure the distribution function of fast ions in the plasma with particular interest in fusion alphas. The feasibility study demonstrated that the only system, which can fully meet the ITER measurement requirements for confined fusion alphas, is a 60 GHz system. The study showed that by using two powerful microwave sources (gyrotrons) of this frequency both on the low field side, and two antenna systems, one on the low field side and one on the high field side, it is possible to resolve the distribution function of fast ions both for perpendicular andvparallel velocities with good spatial and temporal resolution. The present workvconcerned a continuation of this work, and the following tasks were performed. 1) Optimisation of the design, considering the scattering geometries, variations in plasma profiles, magnetic equilibria etc. 2) Development of numerical codes for determination of the geometry of the antenna system on the high field side, including shapes and positions of mirrors and receiver horns. 3) A model experiment was set up in order to test and support the theoretical and numerical results. From the design studies various R and D issues critical to the viability of the CTS diagnostic on ITER were identified; the most urgent ones are addressed in the presented R and D tasks. (author)

  7. Investigation of ionospheric disturbances and associated diagnostic techniques. Final report, 1 January 1992-31 December 1994

    Energy Technology Data Exchange (ETDEWEB)

    Duncan, L.M.

    1995-12-12

    The objectives of this research and development program were to conduct simulation modeling of the generation and propagation of atmospheric acoustic signals associated with surface and subsurface ground disturbances; to construct an experimental measurement system for exploratory research studies of acoustic generated ionospheric disturbances; to model high power radio wave propagation through the ionosphere, including nonlinear wave plasma interaction effects; and to assist in the assessment of diagnostic systems for observation of ionospheric modification experiments using existing and planned high latitude high power RF transmitting facilities. A computer simulation of ionospheric response to ground launched acoustic pulses was constructed and results compared to observational data associated with HF and incoherent scatter radar measurements of ionospheric effects produced by earthquakes and ground level explosions. These results were then utilized to help define the design, construct and test for an HF Doppler radar system. In addition, an assessment was conducted of ionospheric diagnostic instruments proposed for the Air Force/Navy High Frequency Active Auroral Research Program (HAARP).

  8. JAK2 V617F in myeloid disorders: molecular diagnostic techniques and their clinical utility: a paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology.

    Science.gov (United States)

    Steensma, David P

    2006-09-01

    In early 2005, several groups of investigators studying myeloid malignancies described a novel somatic point mutation (V617F) in the conserved autoinhibitory pseudokinase domain of the Janus kinase 2 (JAK2) protein, which plays an important role in normal hematopoietic growth factor signaling. The V617F mutation is present in blood and marrow from a large proportion of patients with classic BCR/ABL-negative chronic myeloproliferative disorders and of a few patients with other clonal hematological diseases such as myelodysplastic syndrome, atypical myeloproliferative disorders, and acute myeloid leukemia. The JAK2 V617F mutation causes constitutive activation of the kinase, with deregulated intracellular signaling that mimics continuous hematopoietic growth factor stimulation. Within 7 months of the first electronic publication describing this new mutation, clinical molecular diagnostic laboratories in the United States and Europe began offering JAK2 mutation testing on a fee-for-service basis. Here, I review the various techniques used by research groups and clinical laboratories to detect the genetic mutation underlying JAK2 V617F, including fluorescent dye chemistry sequencing, allele-specific polymerase chain reaction (PCR), real-time PCR, DNA-melting curve analysis, pyrosequencing, and others. I also discuss diagnostic sensitivity, performance, and other practical concerns relevant to the clinical laboratorian in addition to the potential diagnostic utility of JAK2 mutation tests.

  9. Application of Microarray-Based Comparative Genomic Hybridization in Prenatal and Postnatal Settings: Three Case Reports

    Directory of Open Access Journals (Sweden)

    Jing Liu

    2011-01-01

    Full Text Available Microarray-based comparative genomic hybridization (array CGH is a newly emerged molecular cytogenetic technique for rapid evaluation of the entire genome with sub-megabase resolution. It allows for the comprehensive investigation of thousands and millions of genomic loci at once and therefore enables the efficient detection of DNA copy number variations (a.k.a, cryptic genomic imbalances. The development and the clinical application of array CGH have revolutionized the diagnostic process in patients and has provided a clue to many unidentified or unexplained diseases which are suspected to have a genetic cause. In this paper, we present three clinical cases in both prenatal and postnatal settings. Among all, array CGH played a major discovery role to reveal the cryptic and/or complex nature of chromosome arrangements. By identifying the genetic causes responsible for the clinical observation in patients, array CGH has provided accurate diagnosis and appropriate clinical management in a timely and efficient manner.

  10. 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.

  11. Oral Vaccination with Heat-Inactivated Mycobacterium bovis Does Not Interfere with the Antemortem Diagnostic Techniques for Tuberculosis in Goats

    Directory of Open Access Journals (Sweden)

    Alvaro Roy

    2017-08-01

    Full Text Available Vaccination against tuberculosis (TB is prohibited in cattle or other species subjected to specific TB eradication campaigns, due to the interference that it may cause with the official diagnostic tests. However, immunization with a heat-inactivated (HI Mycobacterium bovis vaccine via the oral route has been suggested to overcome this issue. In this study, the main goal was to assess the interference of the HI vaccine by different routes of administration using a previous vaccination and re-vaccination (boosting protocol. TB-free kid goats were divided into three groups: oral (n = 16, intramuscular (IM; n = 16, and control (n = 16. Results showed that there was a significant difference in the percentage of animals positive to the single intradermal test (SIT and blood based interferon-gamma release assay (IGRA caused by vaccination when performed in the IM group compared to the oral group (p < 0.001. Nevertheless, no positivity to the SIT or IGRA test was observed in orally vaccinated goats regardless of the different interpretation criteria applied. None of the groups presented positive antibody titers using an in-house ELISA and samples collected 2 months after the boost. These results suggest the potential usefulness of the HI vaccine by the oral route in goats to minimize the interference on diagnostic tests (skin and IGRA tests and reducing the necessity of defined antigens to replace the traditional purified protein derivatives for diagnosis. Finally, the results pave the way to future efficacy studies in goats using different routes of HI vaccination.

  12. 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.

  13. 口蹄疫诊断技术的研究进展%Research Progress on Diagnostic Techniques of Foot-and-mouth Disease

    Institute of Scientific and Technical Information of China (English)

    特尼格尔; 黄天鹏

    2016-01-01

    口蹄疫的准确诊断是有效控制疫情蔓延的重要环节。随着生物学技术的迅速发展,口蹄疫的诊断已经不再局限于传统方法。目前,常用的口蹄疫诊断方法包括血清学检测、分子生物学诊断和病原学诊断,其中以血清学检测的应用最为广泛。阐述了3种诊断方法的原理及优缺点,并展望了口蹄疫诊断技术未来的发展方向。%The accurate diagnosis of foot-and-mouth disease is essential to control the spread of the disease. With the rapid development of biotechnology, the diagnosis of foot-and-mouth disease is no longer restricted to traditional methods. At present, the commonly used methods are including serological detection which has the widest application range, molecular biological diagnosis and etiological diagnosis. In this paper, a review is given on the principle as well as advantages and disadvantages of the 3 above-mentioned diagnostic techniques, and the future development of foot-and-mouth disease diagnostic techniques is prospected.

  14. Comparison of three diagnostic techniques for detecting occlusal dental caries in primary molars: An in vivo study

    Directory of Open Access Journals (Sweden)

    Farhin Katge

    2016-01-01

    Conclusion: This study showed low sensitivity but substantial specificity with visual inspection. Bitewing radiography performed poorly overall when compared with the other two systems. The CarieScan PRO technique gave the highest overall combination of sensitivity and specificity for detection of occlusal caries.

  15. Diagnostic accuracy: theoretical models for preimplantation genetic testing of a single nucleus using the fluorescence in situ hybridization technique

    NARCIS (Netherlands)

    P.N. Scriven; P.M.M. Bossuyt

    2010-01-01

    The aim of this study was to develop and use theoretical models to investigate the accuracy of the fluorescence in situ hybridization (FISH) technique in testing a single nucleus from a preimplantation embryo without the complicating effect of mosaicism. Mathematical models were constructed for thre

  16. Image based measurement techniques for aircraft propeller flow diagnostics: Propeller slipstream investigations at high-lift conditions and thrust reverse

    NARCIS (Netherlands)

    Roosenboom, E.W.M.

    2011-01-01

    The aim of the thesis is to measure the propeller slipstream properties (velocity and vorticity) and to assess the unsteady and instantaneous behavior of the propeller flow field at high disk loadings, zero thrust and thrust reverse using the image based measurement techniques. Along with its implem

  17. Diagnostic significance of gas distension technique of the stomach with gas-forming agent on CT scan of stomach cancer

    Energy Technology Data Exchange (ETDEWEB)

    Rho, Tae Jin; Song, Chang June; Choi, Joong Chan; Park, Cheong Hee; Cho, June Sik; Rhee, Byung Chull [Chungnam National University College of Medicine, Dajeon (Korea, Republic of)

    1988-10-15

    CT is a valuable method for preoperative staging of patients with stomach cancers. However, in patients with poor distension of the stomach and scanty fat between the stomach and adjacent organs, CT findings may indicate a false impression of gastric wall thickening and cannot provide the precise extent of stomach cancer. We studied the usefulness of gastric distension by gas-forming agent in 28 cases of pathologically confirmed gastric cancers on CT. Comparative analysis between CT findings and surgical pathologic findings was done in 22 cases who underwent surgery. The results were as follows; 1. Conventional CT failed to define the wall thickening or masses of the stomach, in 14 cases of 23 advanced gastric cancers, while CT with gas distension technique allowed good visualization in all advanced gastric cancers. 2. In 2 cases of 5 early gastric cancers, CT with gas distension technique could detect focal thickening of the gastric wall, even less than 1cm thickness. 3. Among 13 cases with indistinguishable border between stomach and liver on conventional CT, 7 cases were diagnosed as negative invasion on CT with gas distension technique and 5 cases of these were confirmed by surgery. 4. Among 11 cases with indistinguishable border between stomach and pancreas on conventional CT, 3 cases were diagnosed as negative invasion on CT with gas distension technique, all of which were confirmed by surgery. 5. There was no significant difference between conventional CT and CT with gas distension technique of the stomach to diagnose invasion into transverse colon, transverse colon, transverse mesocolon, lymph node metastasis, and various distant metastasis.

  18. 染色体核型分析和荧光原位杂交技术用于产前诊断的价值%Prenatal diagnostic value of chromosomal karyotype analysis and fluores-cence in situ hybridization

    Institute of Scientific and Technical Information of China (English)

    吴玥丽; 赵晖; 赵玲; 周桃珍; 贾莉婷

    2015-01-01

    Aim:To evaluate the prenatal diagnosis value of chromosomal karyotyping analysis and fluorescence in situ hybridization(FISH) performed to detect the amniotic fluid cells from 2 708 cases.Methods:Amniocentesis, amniotic flu-id cell culture , chromosomal karyotype analysis and FISH detection were carried out in 2 708 cases of pregnancy women with prenatal diagnosis indication .Five chromosome-specific probes(chromosome 13, 18, 21, X, Y) were used in inter-phase FISH.Results:The success rate of chromosomal karyotype analysis was 99.9%(2 705/2 708) and 3 failed in am-niotic cell culture.Among the 2 705 cases,39 cases(1.4%) of chromosomal polymorphism were identified ,and 105 cases (3.9%) of chromosomal abnormalities were identified .Among all of the disorders, we found 82 cases of chromosomal ane-uploid abnormalities and 23 cases of structural abnormalities .The success rate of FISH was 100%.A total of 82 cases of chromosome abnormalities were detected by FISH , which were consistent with chromosomal karyotype analysis ,while chro-mosomal polymorphism and structural rearrangement were failed to be detected .Conclusion:Chromosomal karyotype anal-ysis could detect all kinds of chromosomal abnormalities including not only aneuploid but also structural rearrangement , but it is limited by strict gestational week requirements and requires more sample capacity , meanwhile cell culture and karyo-type analysis would lead to a long interval before diagnosis and there may be failures in cell culture , and it is limited in res-olution moreover .FISH technology could be performed without strict gestational week requirements , requires small quantity of samples, uncultured amniotic fluid cells could be detected directly .It is a fast and convenient detection technology but limited by only several chromosomal aneuploid abnormalities could be detected at present , and chromosomal structural ab-normalities such as balanced translocations , inversions and chromosomal polymorphism

  19. Diffuse reflectance spectroscopy: diagnostic accuracy of a non-invasive screening technique for early detection of malignant changes in the oral cavity

    Science.gov (United States)

    Jayanthi, J L; Nisha, G U; Manju, S; Philip, E K; Jeemon, P; Baiju, K V; Beena, V T

    2011-01-01

    Background Strong proof-of-principle for utilisation of diffuse reflectance spectroscopy, a non-invasive tool for early detection of malignant changes, has emerged recently. The potential of this technique in distinguishing normal tissue from hyperplastic and dysplastic tissues was explored. Methods Diffuse reflectance (DR) spectra in the 400–700 nm region were obtained from the buccal mucosa of 96 patients and 34 healthy volunteers. The DR spectral data were compared against the gold standard biopsy and histopathology results. A principal-component analysis was performed for dimensional reduction in the normalised spectral data with linear discriminant analysis as the classifying technique. The receiver operator characteristic curve technique was employed for evaluating the performance of the diagnostic test. Results DR spectral features for different lesions, such as normal/healthy, hyperplastic, dysplastic and squamous cell carcinoma (SCC), varied significantly according to the intensity of oxygenated haemoglobin absorption. While the classification based on discriminant scores provided an overall sensitivity of 98.5% and specificity of 96.0% for distinguishing SCC from dysplasia, they were 100.0% and 95.0%, respectively, for distinguishing dysplasia from hyperplasia. Similarly, the analysis yielded a sensitivity of 95.0% and specificity of 100.0% for distinguishing hyperplasia from healthy tissue. The areas under the receiver operator characteristic curves were 0.98 (95% CI 0.95 to 1.00) and 0.95 (95% CI 0.90 to 1.00) for distinguishing dysplasia from SCC and hyperplasia from dysplasia, respectively. Conclusion DR spectral data efficiently discriminate healthy tissue from oral malignant lesions. Diagnostic accuracies obtained in this study highlight the potential use of this method for routine clinical practice. PMID:22021749

  20. IDENTIFICATION OF CANINE VISCERAL LEISHMANIASIS IN A PREVIOUSLY UNAFFECTED AREA BY CONVENTIONAL DIAGNOSTIC TECHNIQUES AND CELL-BLOCK FIXATION

    Directory of Open Access Journals (Sweden)

    Tuanne Rotti ABRANTES

    2016-01-01

    Full Text Available After the report of a second case of canine visceral leishmaniasis (CVL in São Bento da Lagoa, Itaipuaçu, in the municipality of Maricá, Rio de Janeiro State, an epidemiological survey was carried out, through active search, totaling 145 dogs. Indirect immunofluorescence assay (IFA, enzyme-linked immunosorbent assay (ELISA, and rapid chromatographic immunoassay based on dual-path platform (DPP(r were used to perform the serological examinations. The parasitological diagnosis of cutaneous fragments was performed by parasitological culture, histopathology, and immunohistochemistry. In the serological assessment, 21 dogs were seropositive by IFA, 17 by ELISA, and 11 by DPP(r, with sensitivity of 66.7%, 66.7% and 50%, and specificity of 87.2%, 90.2% and 94%, respectively for each technique. The immunohistochemistry of bone marrow using the cell-block technique presented the best results, with six positive dogs found, three of which tested negative by the other parasitological techniques. Leishmania sp. was isolated by parasitological culture in three dogs. The detection of autochthonous Leishmania infantum in Itaipuaçu, and the high prevalence of seropositive dogs confirm the circulation of this parasite in the study area and alert for the risk of expansion in the State of Rio de Janeiro.

  1. IDENTIFICATION OF CANINE VISCERAL LEISHMANIASIS IN A PREVIOUSLY UNAFFECTED AREA BY CONVENTIONAL DIAGNOSTIC TECHNIQUES AND CELL-BLOCK FIXATION

    Science.gov (United States)

    ABRANTES, Tuanne Rotti; MADEIRA, Maria de Fátima; da SILVA, Denise Amaro; PERIÉ, Carolina dos Santos F. S.; V. MENDES, Artur Augusto; MENEZES, Rodrigo Caldas; SILVA, Valmir Laurentino; FIGUEIREDO, Fabiano Borges

    2016-01-01

    After the report of a second case of canine visceral leishmaniasis (CVL) in São Bento da Lagoa, Itaipuaçu, in the municipality of Maricá, Rio de Janeiro State, an epidemiological survey was carried out, through active search, totaling 145 dogs. Indirect immunofluorescence assay (IFA), enzyme-linked immunosorbent assay (ELISA), and rapid chromatographic immunoassay based on dual-path platform (DPP(r)) were used to perform the serological examinations. The parasitological diagnosis of cutaneous fragments was performed by parasitological culture, histopathology, and immunohistochemistry. In the serological assessment, 21 dogs were seropositive by IFA, 17 by ELISA, and 11 by DPP(r), with sensitivity of 66.7%, 66.7% and 50%, and specificity of 87.2%, 90.2% and 94%, respectively for each technique. The immunohistochemistry of bone marrow using the cell-block technique presented the best results, with six positive dogs found, three of which tested negative by the other parasitological techniques. Leishmania sp. was isolated by parasitological culture in three dogs. The detection of autochthonous Leishmania infantum in Itaipuaçu, and the high prevalence of seropositive dogs confirm the circulation of this parasite in the study area and alert for the risk of expansion in the State of Rio de Janeiro. PMID:26910449

  2. Prenatal screening: current practice, new developments, ethical challenges.

    Science.gov (United States)

    de Jong, Antina; Maya, Idit; van Lith, Jan M M

    2015-01-01

    Prenatal screening pathways, as nowadays offered in most Western countries consist of similar tests. First, a risk-assessment test for major aneuploides is offered to pregnant women. In case of an increased risk, invasive diagnostic tests, entailing a miscarriage risk, are offered. For decades, only conventional karyotyping was used for final diagnosis. Moreover, several foetal ultrasound scans are offered to detect major congenital anomalies, but the same scans also provide relevant information for optimal support of the pregnancy and the delivery. Recent developments in prenatal screening include the application of microarrays that allow for identifying a much broader range of abnomalities than karyotyping, and non-invasive prenatal testing (NIPT) that enables reducing the number of invasive tests for aneuploidies considerably. In the future, broad NIPT may become possible and affordable. This article will briefly address the ethical issues raised by these technological developments. First, a safe NIPT may lead to routinisation and as such challenge the central issue of informed consent and the aim of prenatal screening: to offer opportunity for autonomous reproductive choice. Widening the scope of prenatal screening also raises the question to what extent 'reproductive autonomy' is meant to expand. Finally, if the same test is used for two different aims, namely detection of foetal anomalies and pregnancy-related problems, non-directive counselling can no longer be taken as a standard. Our broad outline of the ethical issues is meant as an introduction into the more detailed ethical discussions about prenatal screening in the other articles of this special issue.

  3. Prenatal management of anencephaly.

    Science.gov (United States)

    Cook, Rebecca J; Erdman, Joanna N; Hevia, Martin; Dickens, Bernard M

    2008-09-01

    About a third of anencephalic fetuses are born alive, but they are not conscious or viable, and soon die. This neural tube defect can be limited by dietary consumption of foliates, and detected prenatally by ultrasound and other means. Many laws permit abortion, on this indication or on the effects of pregnancy and prospects of delivery on a woman's physical or mental health. However, abortion is limited under some legal systems, particularly in South America. To avoid criminal liability, physicians will not terminate pregnancies, by induced birth or abortion, without prior judicial approval. Argentinian courts have developed means to resolve these cases, but responses of Brazilian courts are less clear. Ethical concerns relate to late-term abortion, meaning after the point of fetal viability, but since anencephalic fetuses are nonviable, many ethical concerns are overcome. Professional guidance is provided by several professional and institutional codes on management of anencephalic pregnancies.

  4. Huntington Disease: Molecular Diagnostics Approach.

    Science.gov (United States)

    Bastepe, Murat; Xin, Winnie

    2015-10-06

    Huntington disease (HD) is caused by expansion of a CAG trinucleotide repeat in the first exon of the Huntingtin (HTT) gene. Molecular testing of Huntington disease for diagnostic confirmation and disease prediction requires detection of the CAG repeat expansion. There are three main types of HD genetic testing: (1) diagnostic testing to confirm or rule out disease, (2) presymptomatic testing to determine whether an at-risk individual inherited the expanded allele, and (3) prenatal testing to determine whether the fetus has inherited the expanded allele. This unit includes protocols that describe the complementary use of polymerase chain reactions (PCR) and Southern blot hybridization to accurately measure the CAG trinucleotide repeat size and interpret the test results. In addition, an indirect linkage analysis that does not reveal the unwanted parental HD status in a prenatal testing will also be discussed.

  5. Diagnostic accuracies of endoscopic ultrasound-guided fine-needle aspiration with distinct negative pressure suction techniques in solid lesions: A retrospective study

    Science.gov (United States)

    Wang, Ronghua; Wang, Jinlin; Li, Yawen; Duan, Yaqi; Wu, Xiaoli; Cheng, Bin

    2017-01-01

    Endoscopic ultrasound (EUS)-guided fine-needle aspiration (EUS-FNA) is highly accurate in obtaining specific diagnoses for various diseases. The present study aimed to evaluate the diagnostic yields, accuracies and sampling adequacies, of slow-pull, 5 ml suction and 10 ml suction techniques in EUS-FNA of solid lesions. The present study was a retrospective comparative study, which was performed in tertiary academic centers, recognized for their expertise in EUS and EUS-guided FNA. The present study involved 149 patients who underwent EUS-FNA of solid masses. A total of 34 (22.8%), 37 (24.8%) and 78 (52.4%) patients underwent EUS-FNA with slow-pull, 5 ml suction and 10 ml suction techniques, respectively. The EUS-FNA cytology and histology results were compared with those from the gold standard of surgical histopathology [hematoxylin-eosin staining; immunohistochemical test of cluster of differentiation (CD) 79a, CD20 and flow cytometry test] or long-term clinical follow-up. The present retrospective comparative study demonstrated that the diagnostic yields and accuracies of EUS-FNA with slow-pull (86.1%) were significantly superior to those achieved with 5 ml suction (83.3%) or 10 ml suction (69.9%; Psuction group were adequate for histological diagnosis. By contrast, 70.6 (24/34) and 85.9% (67/78) of samples from the slow-pull and 10 ml suction groups were adequate for histological diagnosis, respectively. The samples obtained using 10 ml suction contained more blood compared with those obtained via slow-pull and 5 ml suction (P=0.0056; χ2 test). No complications were noted in any of the three groups. The samples that were obtained for histopathological diagnosis using 5 ml suction were superior to those obtained using slow-pull or 10 ml suction. Additional multi-central prospective studies in which EUS-FNA is performed with variable negative pressures are required to improve the defining of the diagnostic roles of those techniques. PMID:28521473

  6. FIRST-TRIMESTER PRENATAL-DIAGNOSIS IN TWIN PREGNANCIES

    NARCIS (Netherlands)

    CHRISTIAENS, GCML; Oosterwijk, JC; STIGTER, RH; DEUTZTERLOUW, PP; KNEPPERS, ALJ; BAKKER, E

    Two twin pregnancies at risk for a sex-linked disorder are described. Both pregnancies were dichorionic. Transabdominal sampling was chosen for prenatal diagnosis. Molecular genetic techniques raised suspicion with regard to the accuracy of the samples in one case. Second-trimester amniocentesis

  7. FIRST-TRIMESTER PRENATAL-DIAGNOSIS IN TWIN PREGNANCIES

    NARCIS (Netherlands)

    CHRISTIAENS, GCML; Oosterwijk, JC; STIGTER, RH; DEUTZTERLOUW, PP; KNEPPERS, ALJ; BAKKER, E

    1994-01-01

    Two twin pregnancies at risk for a sex-linked disorder are described. Both pregnancies were dichorionic. Transabdominal sampling was chosen for prenatal diagnosis. Molecular genetic techniques raised suspicion with regard to the accuracy of the samples in one case. Second-trimester amniocentesis con

  8. Assessment of African Swine Fever Diagnostic Techniques as a Response to the Epidemic Outbreaks in Eastern European Union Countries: How To Improve Surveillance and Control Programs.

    Science.gov (United States)

    Gallardo, C; Nieto, R; Soler, A; Pelayo, V; Fernández-Pinero, J; Markowska-Daniel, I; Pridotkas, G; Nurmoja, I; Granta, R; Simón, A; Pérez, C; Martín, E; Fernández-Pacheco, P; Arias, M

    2015-08-01

    This study represents a complete comparative analysis of the most widely used African swine fever (ASF) diagnostic techniques in the European Union (EU) using field and experimental samples from animals infected with genotype II ASF virus (ASFV) isolates circulating in Europe. To detect ASFV, three different PCRs were evaluated in parallel using 785 field and experimental samples. The results showed almost perfect agreement between the Universal ProbeLibrary (UPL-PCR) and the real-time (κ = 0.94 [95% confidence interval {CI}, 0.91 to 0.97]) and conventional (κ = 0.88 [95% CI, 0.83 to 0.92]) World Organisation for Animal Health (OIE)-prescribed PCRs. The UPL-PCR had greater diagnostic sensitivity for detecting survivors and allows earlier detection of the disease. Compared to the commercial antigen enzyme-linked immunosorbent assay (ELISA), good-to-moderate agreement (κ = 0.67 [95% CI, 0.58 to 0.76]) was obtained, with a sensitivity of 77.2% in the commercial test. For ASF antibody detection, five serological methods were tested, including three commercial ELISAs, the OIE-ELISA, and the confirmatory immunoperoxidase test (IPT). Greater sensitivity was obtained with the IPT than with the ELISAs, since the IPT was able to detect ASF antibodies at an earlier point in the serological response, when few antibodies are present. The analysis of the exudate tissues from dead wild boars showed that IPT might be a useful serological tool for determining whether or not animals had been exposed to virus infection, regardless of whether antibodies were present. In conclusion, the UPL-PCR in combination with the IPT was the most trustworthy method for detecting ASF during the epidemic outbreaks affecting EU countries in 2014. The use of the most appropriate diagnostic tools is critical when implementing effective control programs.

  9. 产前系统性超声筛查在中晚期孕妇检查中的诊断价值%Diagnostic value of systematic prenatal ultrasound screening of pregnant women in the middle and late of pregnancy

    Institute of Scientific and Technical Information of China (English)

    陈宏建; 陆得秀; 曹蕊; 茆在梅

    2014-01-01

    目的:探讨产前系统性超声筛查在中晚期孕妇检查中的诊断价值。方法总结和分析仪征市中医院2010年5月至2014年3月对孕22~32周3550例中晚期孕妇进行产前系统性超声筛查结果。结果本组3550例胎儿筛查中,胎儿畸形共80例(2.25%),单发畸形71例,多发畸形9例,其中漏诊5例(0.14%)。在单发畸形中,神经系统畸形17例、泌尿系统畸形12例、心脏畸形10例、消化系统(包括腹部)畸形11例、骨骼系统畸形5例、呼吸系统畸形4例、颈面部8例、其他畸形4例。在漏诊5例中,胎儿复杂心脏畸形1例、腭裂1例、膀胱部分外翻1例、足内翻1例、肛门闭锁1例。结论产前系统性超声筛查对胎儿诊断检查中具有较高特异性和准确性,应作为产前孕妇检查的常规检查手段。%Objective To explore diagnostic value of systematic prenatal ultrasound screening of pregnant women in the middle and late of pregnancy. Methods Summary and analysis into 3 550 cases of prenatal ultrasound screening of pregnant women in between 22nd and 32nd of pregnancy. Results Among the 3 550 cases in this arti-cle, 80 of them were fetal anomaly (2.25%), including 71 single malformation and 9 multiple malformations. Five were missed diagnosed. Single malformation consisted of 17 nervous system malformations, 12 urinary system malforma-tions, 10 heart malformations, 11 digestive system malformations (including abdominal), 5 skeletal malformations, 4 respiratory system malformations, 8 neck facial malformations, 4 other forms of malformation. Five missed diagnosed cases consisted of 1 congenital heart malformation, 1 cleft palate, 1 partial bladder exstrophy, 1 talipes varus, 1 proc-tatresia. Conclusion Systematic prenatal ultrasound screening has a high value of specificity and accuracy, thus it should be a routine examination for pregnant women.

  10. What Happens during Prenatal Visits?

    Science.gov (United States)

    ... at risk for complications? How does stress affect pregnancy? NICHD Research Information Clinical Trials Resources and Publications What happens during prenatal visits? Skip sharing on social media links Share this: Page Content What happens during ...

  11. Preconception Care and Prenatal Care

    Science.gov (United States)

    ... at risk for complications? How does stress affect pregnancy? NICHD Research Information Clinical Trials Resources and Publications Preconception Care and Prenatal Care: Condition Information Skip sharing on social media links Share this: Page Content What is preconception ...

  12. Prenatal Tests for Down Syndrome

    Science.gov (United States)

    ... PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? Down syndrome is a common birth defect that includes mental retardation and— often— heart problems. Children with Down syndrome have round faces and almond-shaped eyes that ...

  13. 2D and 3D optical diagnostic techniques applied to Madonna dei Fusi by Leonardo da Vinci

    Science.gov (United States)

    Fontana, R.; Gambino, M. C.; Greco, M.; Marras, L.; Materazzi, M.; Pampaloni, E.; Pelagotti, A.; Pezzati, L.; Poggi, P.; Sanapo, C.

    2005-06-01

    3D measurement and modelling have been traditionally applied to statues, buildings, archeological sites or similar large structures, but rarely to paintings. Recently, however, 3D measurements have been performed successfully also on easel paintings, allowing to detect and document the painting's surface. We used 3D models to integrate the results of various 2D imaging techniques on a common reference frame. These applications show how the 3D shape information, complemented with 2D colour maps as well as with other types of sensory data, provide the most interesting information. The 3D data acquisition was carried out by means of two devices: a high-resolution laser micro-profilometer, composed of a commercial distance meter mounted on a scanning device, and a laser-line scanner. The 2D data acquisitions were carried out using a scanning device for simultaneous RGB colour imaging and IR reflectography, and a UV fluorescence multispectral image acquisition system. We present here the results of the techniques described, applied to the analysis of an important painting of the Italian Reinassance: `Madonna dei Fusi', attributed to Leonardo da Vinci.

  14. Non-medical applications of non invasive prenatal testing: ethical issues and apllicabilities

    OpenAIRE

    Tasinato, Paola

    2013-01-01

    The possibility of obtaining material for foetal molecular analysis without the need of invasive procedures has been a long wished improvement of practice in prenatal diagnostics. The demonstration of the presence of foetal cells and circulating foetal free-DNA in a sample of mother-to-be’s blood promised that a non-invasive approach for prenatal diagnostics is near to becoming a reality. The presence of foetal cells (albeit in low numbers) in maternal blood has been known since 1893, when...

  15. Re-exploring the high-throughput potential of microextraction techniques, SPME and MEPS, as powerful strategies for medical diagnostic purposes. Innovative approaches, recent applications and future trends.

    Science.gov (United States)

    Pereira, Jorge; Silva, Catarina Luís; Perestrelo, Rosa; Gonçalves, João; Alves, Vera; Câmara, José S

    2014-03-01

    The human population continues to grow exponentially in the fast developing and most populated countries, whereas in Western Europe it is getting older and older each year. This inevitably raises the demand for better and more efficient medical services without increasing the economic burden in the same proportion. To meet these requirements, improvement of medical diagnosis is certainly a key aspect to consider. Therefore, we need powerful analytical methodologies able to go deeper and further in the characterization of human metabolism and identification of disease biomarkers and endogenous molecules in body fluids and tissues. The ultimate goal is to have a reliable and early medical diagnosis, mitigating the disease complications as much as possible. Microextraction techniques (METs) represent a key step in these analytical methodologies by providing samples in the suitable volumes and purification levels necessary for the characterization of the target analytes. In this aspect, solid-phase microextraction (SPME) and, more recently, microextraction by packed sorbent (MEPS), are powerful sample preparation techniques, characterized by their reduced time of analysis, low solvent consumption, and broad application. Moreover, as miniaturized techniques, they can be easily automatized to have a high-throughput performance in the clinical environment. In this review, we explore some of the most interesting MEPS and SPME applications, focusing on recent trends and applications to medical diagnostic, particularly the in vivo and near real time applications.

  16. Pallister-Killian syndrome: difficulties of prenatal diagnosis.

    Science.gov (United States)

    Doray, Bérénice; Girard-Lemaire, Françoise; Gasser, Bernard; Baldauf, Jean-Jacques; De Geeter, Bernard; Spizzo, Michèle; Zeidan, Charles; Flori, Elisabeth

    2002-06-01

    The first prenatal diagnosis of Pallister-Killian syndrome (PKS) was reported by Gilgenkrantz et al. in1985. Since this report, about 60 prenatal cases have been reported but both sonographic and cytogenetic diagnoses remain difficult. Although ultrasound anomalies such as congenital diaphragmatic hernia, polyhydramnios and rhizomelic micromelia in association with fetal overgrowth are very suggestive of the syndrome, they are inconstant and they may even be absent. The mosaic distribution of the supernumerary isochromosome 12p greatly increases these difficulties. No prenatal cytogenetic technique is sensitive enough to ensure prenatal diagnosis and false-negative results have been described on fetal blood, chorionic villi and amniocentesis. We report here two prenatal cases of PKS which illustrate the great variability of the fetal phenotype. In reviewing the 63 reported cases, we attempt to determine ultrasound indicators of the syndrome and to define a cytogenetic strategy. In cases where ultrasound indicators are present, our proposal is first to perform chorionic villus or placental sampling and then amniocentesis when the first cytogenetic result is normal. Fetal blood sampling is the least indicated method because of the low frequency of the isochromosome in lymphocytes. In this cytogenetic strategy, fluorescent in situ hybridization (FISH) and especially interphase FISH on non-cultured cells increases the probability or identifying the isochromosome. A misdiagnosis remains possible when ultrasound is not contributory; the identification of new discriminating ultrasound indicators would be very helpful in this context.

  17. The results of cytogenetic analyses in prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Jovanović-Privrodski Jadranka

    2007-01-01

    Full Text Available Introduction. G-banding and other classical cytogenetic methods are still in use, together with molecular cytogenetic techniques such as FISH (Fluorescence In Situ Hybridization and SKY (Spectral Karyotyping. Material and methods. This retrospective study evaluated clinical data on individuaols seeking genetic counseling over a 15-year period (1992 - 2007 at the Medical Genetic Center, Child and Youth Health Care Institute of Vojvodina in Novi Sad. The study included 37.191 genetic counselings, and 20.607 prenatal analyses (amniocentesis and cordocentesis. Results Over a 15-year period (1992 - 2007 17.937 amniotic fluid samples were analyzed and 274 abnormal karyotypes were found; out of 2.670 fetal blood samples, there were 78 abnormal karyotypes. During a 15-year period, prenatal diagnosis, using amniocentesis and/or cordocentesis, showed 352 fetuses with chromosomal aberrations. Discussion. On average, over the past 15-year period, 8% of pregnancies were controlled with invasive prenatal procedures. The percentage has changed; in fact, it is increasing from year to year. In 1992, only 0.82% (N=139/17000 of pregnant women in Vojvodina underwent invasive prenatal procedures, and in 2006 the rate increased to 15.65% (N=2660/17000. Conclusion. It is necessary to improve and promote the possibilities of genetic counseling and invasive prenatal diagnosis in order to prevent the occurrence of chromosomal aberrations and other genetic diseases.

  18. Novel Applications of Lanthanoides as Analytical or Diagnostic Tools in the Life Sciences by ICP-MS-based Techniques

    Science.gov (United States)

    Müller, Larissa; Traub, Heike; Jakubowski, Norbert

    2016-11-01

    Inductively coupled plasma mass spectrometry (ICP-MS) is a well-established analytical method for multi-elemental analysis in particular for elements at trace and ultra-trace levels. It has found acceptance in various application areas during the last decade. ICP-MS is also more and more applied for detection in the life sciences. For these applications, ICP-MS excels by a high sensitivity, which is independent of the molecular structure of the analyte, a wide linear dynamic range and by excellent multi-element capabilities. Furthermore, methods based on ICP-MS offer simple quantification concepts, for which usually (liquid) standards are applied, low matrix effects compared to other conventional bioanalytical techniques, and relative limits of detection (LODs) in the low pg g-1 range and absolute LODs down to the attomol range. In this chapter, we focus on new applications where the multi-element capability of ICP-MS is used for detection of lanthanoides or rare earth elements, which are applied as elemental stains or tags of biomolecules and in particular of antibodies.

  19. Plasma diagnostics discharge parameters and chemistry

    CERN Document Server

    Auciello, Orlando

    1989-01-01

    Plasma Diagnostics, Volume 1: Discharge Parameters and Chemistry covers seven chapters on the important diagnostic techniques for plasmas and details their use in particular applications. The book discusses optical diagnostic techniques for low pressure plasmas and plasma processing; plasma diagnostics for electrical discharge light sources; as well as Langmuir probes. The text also describes the mass spectroscopy of plasmas, microwave diagnostics, paramagnetic resonance diagnostics, and diagnostics in thermal plasma processing. Electrical engineers, nuclear engineers, microwave engineers, che

  20. Prenatal exercise research.

    Science.gov (United States)

    Field, Tiffany

    2012-06-01

    In this review of recent research on prenatal exercise, studies from several different countries suggest that only approximately 40% of pregnant women exercise, even though about 92% are encouraged by their physicians to exercise, albeit with some 69% of the women being advised to limit their exercise. A moderate exercise regime reputedly increases infant birthweight to within the normal range, but only if exercise is decreased in late pregnancy. Lower intensity exercise such as water aerobics has decreased low back pain more than land-based physical exercise. Heart rate and blood pressure have been lower following yoga than walking, and complications like pregnancy-induced hypertension with associated intrauterine growth retardation and prematurity have been less frequent following yoga. No studies could be found on tai chi with pregnant women even though balance and the risk of falling are great concerns during pregnancy, and tai chi is one of the most effective forms of exercise for balance. Potential underlying mechanisms for exercise effects are that stimulating pressure receptors during exercise increases vagal activity which, in turn, decreases cortisol, increases serotonin and decreases substance P, leading to decreased pain. Decreased cortisol is particularly important inasmuch as cortisol negatively affects immune function and is a significant predictor of prematurity. Larger, more controlled trials are needed before recommendations can be made about the type and amount of pregnancy exercise.

  1. Neurodevelopmental Outcomes of Prenatal Stress

    Directory of Open Access Journals (Sweden)

    M. Genco Usta

    2012-03-01

    Full Text Available The influence of prenatal stress on psychopathology has been observed in many animal and human studies. In many studies, stress during prenatal period has been shown to result in negative feedback dysregulation and hyperactivity of hypothalamo-pituitary-adrenocortical axis. Prenatal stres also may cause increased risk of birth complications, startle or distress in response to novel and surprising stimuli during infancy; lower Full Scale IQs, language abilities and attention deficiency in period of 3-5 years; increased risk of attention deficit hyperactivity syndrome, anxiety symptoms, depressive disorder and impulsivity during adolescence. Additionally, timing of prenatal stress is also important and 12-22 weeks of gestation seems to be the most vulnerable period. The results underline the need for early prevention and intervention programs for highly anxious women during pregnancy. Administration of prenatal stress monitoring to public health programs or removing pregnant women who have been exposed to life events such as natural disaster, terror attack to secure areas that provide basic needs may be crucial.

  2. Prenatal irradiation-induced brain neuropathology and cognitive impairment.

    Science.gov (United States)

    Yang, Bo; Ren, Bo Xu; Tang, Feng Ru

    2017-01-01

    Embryo/fetus is much more radiosensitive than neonatal and adult human being. The main potential effects of pre-natal radiation exposure on the human brain include growth retardation, small head/brain size, mental retardation, neocortical ectopias, callosal agenesis and brain tumor which may result in a lifetime poor quality of life. The patterns of prenatal radiation-induced effects are dependent not only on the stages of fetal development, the sensitivity of tissues and organs, but also on radiation sources, doses, dose rates. With the increased use of low dose radiation for diagnostic or radiotherapeutic purposes in recent years, combined with postnatal negative health effect after prenatal radiation exposure to fallout of Chernobyl nuclear power plant accident, the great anxiety and unnecessary termination of pregnancies after the nuclear disaster, there is a growing concern about the health effect of radiological examinations or therapies in pregnant women. In this paper, we reviewed current research progresses on pre-natal ionizing irradiation-induced abnormal brain structure changes. Subsequent postnatal neuropsychological and neurological diseases were provided. Relationship between irradiation and brain aging was briefly mentioned. The relevant molecular mechanisms were also discussed. Future research directions were proposed at the end of this paper. With limited human data available, we hoped that systematical review of animal data could relight research interests on prenatal low dose/dose rate irradiation-induced brain microanatomical changes and subsequent neurological and neuropsychological disorders. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  3. Prenatal diagnosis of hemoglobinopathies: from fetoscopy to coelocentesis

    Directory of Open Access Journals (Sweden)

    Gianfranca Damiani

    2014-09-01

    Full Text Available Prenatal diagnosis of hemoglobinopathies involves the study of fetal material from blood, amniocytes, trophoblast coelomatic cells and fetal DNA in maternal circulation. Its first application dates back to the 70s and it involves globin chain synthesis analysis on fetal blood. In the 1980s molecular analysis was introduced as well as amniocentesis and chorionic villi sampling under high-resolution ultrasound imaging. The application of direct sequencing and polymerase chain reactionbased methodologies improved the DNA analysis procedures and reduced the sampling age for invasive prenatal diagnosis from 18 to 16- 11 weeks allowing fetal genotyping within the first trimester of pregnancy. In the last years, fetal material obtained at 7-8 weeks of gestation by coelocentesis and isolation of fetal cells has provided new platforms on which to develop diagnostic capabilities while non-invasive technologies using fetal DNA in maternal circulation are starting to develop.

  4. Update on prenatal care.

    Science.gov (United States)

    Zolotor, Adam J; Carlough, Martha C

    2014-02-01

    Many elements of routine prenatal care are based on tradition and lack a firm evidence base; however, some elements are supported by more rigorous studies. Correct dating of the pregnancy is critical to prevent unnecessary inductions and to allow for accurate treatment of preterm labor. Physicians should recommend folic acid supplementation to all women as early as possible, preferably before conception, to reduce the risk of neural tube defects. Administration of Rho(D) immune globulin markedly decreases the risk of alloimmunization in an RhD-negative woman carrying an RhD-positive fetus. Screening and treatment for iron deficiency anemia can reduce the risks of preterm labor, intrauterine growth retardation, and perinatal depression. Testing for aneuploidy and neural tube defects should be offered to all pregnant women with a discussion of the risks and benefits. Specific genetic testing should be based on the family histories of the patient and her partner. Physicians should recommend that pregnant women receive a vaccination for influenza, be screened for asymptomatic bacteriuria, and be tested for sexually transmitted infections. Testing for group B streptococcus should be performed between 35 and 37 weeks' gestation. If test results are positive or the patient has a history of group B streptococcus bacteriuria during pregnancy, intrapartum antibiotic prophylaxis should be administered to reduce the risk of infection in the infant. Intramuscular or vaginal progesterone should be considered in women with a history of spontaneous preterm labor, preterm premature rupture of membranes, or shortened cervical length (less than 2.5 cm). Screening for diabetes should be offered using a universal or a risk-based approach. Women at risk of preeclampsia should be offered low-dose aspirin prophylaxis, as well as calcium supplementation if dietary calcium intake is low. Induction of labor may be considered between 41 and 42 weeks' gestation.

  5. Diagnóstico pré-natal e aborto seletivo: um desafio à prática e às políticas Prenatal diagnosis and selective abortion: a challenge for practice and policies

    OpenAIRE

    Adrienn Asch

    2003-01-01

    Este artigo defende o argumento de que a popularização do aborto seletivo com as modernas técnicas de diagnóstico pré-natal representa um risco à integridade moral dos deficientes, caso ele não seja acompanhado de uma intensificação das políticas de bem-estar para as pessoas portadoras de deficiência.This article contends that the popularization of selective abortion in the wake of modern prenatal diagnostic techniques poses a risk to the moral integrity of people with disabilities, if it is ...

  6. [Communication skills for prenatal counselling].

    Science.gov (United States)

    Bitzer, J; Tschudin, S; Holzgreve, W; Tercanli, S

    2007-04-18

    Prenatal counselling is characterized by specific characteristics: A):The communication is about the values of the pregnant woman and her relationship with the child to be. B) The communication deals with patient's images and emotions. C) It is a communication about risks, numbers and statistics. D) Physician and patient deal with important ethical issues. In this specific setting of prenatal diagnosis and care physicians should therefore learn to apply basic principles of patient-centred communication with elements of non directive counselling, patient education and shared decision making. These elements are integrated into a process which comprises the following "steps": 1. Clarification of the patient's objectives and the obstetrician's mandate. 2. The providing of individualized information and education about prenatal tests and investigations. 3. Shared decision making regarding tests and investigations 4. Eventually Breaking (bad, ambivalent) news. 5. Caring for patients with an affected child.

  7. Diagnostic Value of Multidetector CT and Its Multiplanar Reformation, Volume Rendering and Virtual Bronchoscopy Postprocessing Techniques for Primary Trachea and Main Bronchus Tumors.

    Directory of Open Access Journals (Sweden)

    Mingyue Luo

    Full Text Available To evaluate the diagnostic value of multidetector CT (MDCT and its multiplanar reformation (MPR, volume rendering (VR and virtual bronchoscopy (VB postprocessing techniques for primary trachea and main bronchus tumors.Detection results of 31 primary trachea and main bronchus tumors with MDCT and its MPR, VR and VB postprocessing techniques, were analyzed retrospectively with regard to tumor locations, tumor morphologies, extramural invasions of tumors, longitudinal involvements of tumors, morphologies and extents of luminal stenoses, distances between main bronchus tumors and trachea carinae, and internal features of tumors. The detection results were compared with that of surgery and pathology.Detection results with MDCT and its MPR, VR and VB were consistent with that of surgery and pathology, included tumor locations (tracheae, n = 19; right main bronchi, n = 6; left main bronchi, n = 6, tumor morphologies (endoluminal nodes with narrow bases, n = 2; endoluminal nodes with wide bases, n = 13; both intraluminal and extraluminal masses, n = 16, extramural invasions of tumors (brokethrough only serous membrane, n = 1; 4.0 mm-56.0 mm, n = 14; no clear border with right atelectasis, n = 1, longitudinal involvements of tumors (3.0 mm, n = 1; 5.0 mm-68.0 mm, n = 29; whole right main bronchus wall and trachea carina, n = 1, morphologies of luminal stenoses (irregular, n = 26; circular, n = 3; eccentric, n = 1; conical, n = 1 and extents (mild, n = 5; moderate, n = 7; severe, n = 19, distances between main bronchus tumors and trachea carinae (16.0 mm, n = 1; invaded trachea carina, n = 1; >20.0 mm, n = 10, and internal features of tumors (fairly homogeneous densities with rather obvious enhancements, n = 26; homogeneous density with obvious enhancement, n = 1; homogeneous density without obvious enhancement, n = 1; not enough homogeneous density with obvious enhancement, n = 1; punctate calcification with obvious enhancement, n = 1; low density

  8. Diagnostic Development on NSTX

    Energy Technology Data Exchange (ETDEWEB)

    A.L. Roquemore; D. Johnson; R. Kaita; et al

    1999-12-16

    Diagnostics are described which are currently installed or under active development for the newly commissioned NSTX device. The low aspect ratio (R/a less than or equal to 1.3) and low toroidal field (0.1-0.3T) used in this device dictate adaptations in many standard diagnostic techniques. Technical summaries of each diagnostic are given, and adaptations, where significant, are highlighted.

  9. Incidental prenatal diagnosis of sex chromosome aneuploidies: health, behavior, and fertility.

    NARCIS (Netherlands)

    Pieters, J.J.; Kooper, A.J.A.; Geurts van Kessel, A.H.M.; Braat, D.D.M.; Smits, A.P.T.

    2011-01-01

    Objective. To assess the diagnostic relevance of incidental prenatal findings of sex chromosome aneuploidies. Methods. We searched with medical subject headings (MeSHs) and keywords in Medline and the Cochrane Library and systematically screened publications on postnatally diagnosed sex chromosomal

  10. Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

    NARCIS (Netherlands)

    Kooper, A.J.A.; Pieters, J.J.; Faas, B.H.W.; Hoefsloot, L.H.; Burgt, C.J.A.M. van der; Zondervan, H.A.; Smits, A.P.T.

    2012-01-01

    ABSTRACT: As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the diagnostic value of this procedure. These samples included 454 (90.8%) chorionic

  11. "Everything you need to know": how women's magazines structure prenatal diagnosis for women over 35.

    NARCIS (Netherlands)

    Beaulieu, A; Lippman, A

    1995-01-01

    The use of biomedical testing and genetic counselling is usually framed as something an individual woman chooses, with little consideration given to the context in which women make these choices. In order to understand something of the context in which women (35 and over) undergo prenatal diagnostic

  12. "Everything you need to know": how women's magazines structure prenatal diagnosis for women over 35.

    NARCIS (Netherlands)

    Beaulieu, A; Lippman, A

    1995-01-01

    The use of biomedical testing and genetic counselling is usually framed as something an individual woman chooses, with little consideration given to the context in which women make these choices. In order to understand something of the context in which women (35 and over) undergo prenatal diagnostic

  13. Rapid Prenatal Diagnosis of Trisomy 21 by Real-time Quantitative Polymerase Chain Reaction with Amplification of Small Tandem Repeats and S100B in Chromosome 21

    Science.gov (United States)

    Nam, Mi Suk; Yang, Eun Suk

    2005-01-01

    Trisomy 21 (Down syndrome) is the most common congenital anomaly, and it occurs in one out of 700-1000 births. Current techniques such as amniocentesis and chorionic villi sampling (CVS) require lengthy laboratory culture procedures and high costs. This study was undertaken to establish a rapid prenatal diagnosis of trisomy 21 using real-time quantitative polymerase chain reaction (PCR) of fetal DNA from amniotic fluid. Real-time quantitative PCR was performed with DNA templates obtained from 14 normal blood samples, 10 normal amniotic fluid samples, 14 Down syndrome blood samples, and 7 Down syndrome amniotic fluid samples. Primers for D21S167 and S100B of chromosome 21 were used. Primers that direct the amplification of the 165-bp fragment of the insulin-like growth factor (IGF)-1 gene on chromosome 12 using a PCR primer were included to generate an internal standard for quantitation. The relative levels of D21S167 and S100B were 2.6 and 2.4 times higher in the blood of Down syndrome patients than those in the control group. The differences between these two groups were statistically significant (p-values were 0.0012 and 0.0016, respectively). The relative levels of D21S167 and S100B were 2.1 and 2.7 times higher in the amniotic fluid of Down syndrome fetuses than those in the control group. The difference between these two groups was statistically significant (p-values were 0.0379 and 0.0379, respectively). Prenatal diagnosis of trisomy 21 by real-time quantitative PCR using STR (small tandem repeats) amplification of D21S167 and S100B is a useful, accurate and rapid diagnostic method. Furthermore, it may also be useful for prenatal diagnosis with fetal DNA from maternal blood, and for preimplantation genetic diagnosis and prenatal counseling. PMID:15861490

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

    Science.gov (United States)

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

    1998-06-01

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

  15. Research Progress on Diagnostic Techniques of Foot-and-Mouth Disease%蹄疫诊断技术研究进展

    Institute of Scientific and Technical Information of China (English)

    武刚; 王洪梅; 刘晓; 宋玲玲; 陈莉莉; 仲跻峰; 何洪彬

    2011-01-01

    口蹄疫是偶蹄动物的一种急性、热性、高度接触性传染病,可使世界范围内的畜牧业遭受严重的经济损失,及时准确的诊断是防制口蹄疫的重要环节.诊断口蹄疫的方法可分为临床诊断、生物学实验、血清学诊断、分子生物学检测技术及环介导等五类技术,每类技术中又包括数个具体技术.论文对其优缺点进行比较,并对口蹄疫诊断技术研究进行了展望.%Foot and mouth disease is an acute, febrile, highly contagious disease of Cloven-hoofed animals. It may cause the animal husbandry to suffer the serious economic loss in the worldwide scale. The prompt accurate diagnosis is important to fight against foot-and-mouth disease. There are several diagnosis methods of foot-and-mouth disease,such as: the clinical diagnosis, the biology experiment, the serological diagnosis, molecular biology techniques and five other Central-mediated technology. Each type of technology also includes several specific technologies. The advantages and disadvantages, as well as the methods were compared, and the development of foot and mouth disease diagnostic techniques was forecasted in this paper.

  16. 奶牛隐性乳房炎诊断技术研究进展%Research Progress on Diagnostic Techniques of Recessive Mastitis in Dairy Cows

    Institute of Scientific and Technical Information of China (English)

    马金梅; 迟良; 邹明; 刘焕奇

    2016-01-01

    At the present time,the recessive mastitis has become one of the common diseases with high incidence in dairy cows,resulting in serious harm and great financial loss in dairy industry. Major diagnostic techniques and methods of the disease were compared and analyzed in this article,including cell count,PH-value test of milk,conductivity detection of milk,milk bacterial culture,PCR assay and MTT test,so as to provide guidance for better selection and further study of the diagnosis method for recessive mastitis.%目前,奶牛隐性乳房炎已成为奶牛常见的多发病,给奶牛养殖业带来了严重危害和巨大经济损失。本文对当前该病的主要诊断技术与方法,包括体细胞计数法、乳汁PH检验法、乳汁电导率检测法、乳汁细菌培养、PCR检测方法、MTT检测法等,进行了对比阐述,以期为选择和研究奶牛隐性乳房炎相关诊断方法提供借鉴。

  17. Applicability of quantitative optical imaging techniques for intraoperative perfusion diagnostics: a comparison of laser speckle contrast imaging, sidestream dark-field microscopy, and optical coherence tomography

    Science.gov (United States)

    Jansen, Sanne M.; de Bruin, Daniel M.; Faber, Dirk J.; Dobbe, Iwan J. G. G.; Heeg, Erik; Milstein, Dan M. J.; Strackee, Simon D.; van Leeuwen, Ton G.

    2017-08-01

    Patient morbidity and mortality due to hemodynamic complications are a major problem in surgery. Optical techniques can image blood flow in real-time and high-resolution, thereby enabling perfusion monitoring intraoperatively. We tested the feasibility and validity of laser speckle contrast imaging (LSCI), optical coherence tomography (OCT), and sidestream dark-field microscopy (SDF) for perfusion diagnostics in a phantom model using whole blood. Microvessels with diameters of 50, 100, and 400 μm were constructed in a scattering phantom. Perfusion was simulated by pumping heparinized human whole blood at five velocities (0 to 20 mm/s). Vessel diameter and blood flow velocity were assessed with LSCI, OCT, and SDF. Quantification of vessel diameter was feasible with OCT and SDF. LSCI could only visualize the 400-μm vessel, perfusion units scaled nonlinearly with blood velocity. OCT could assess blood flow velocity in terms of inverse OCT speckle decorrelation time. SDF was not feasible to measure blood flow; however, for diluted blood the measurements were linear with the input velocity up to 1 mm/s. LSCI, OCT, and SDF were feasible to visualize blood flow. Validated blood flow velocity measurements intraoperatively in the desired parameter (mL·g-1) remain challenging.

  18. Applicability of quantitative optical imaging techniques for intraoperative perfusion diagnostics: a comparison of laser speckle contrast imaging, sidestream dark-field microscopy, and optical coherence tomography.

    Science.gov (United States)

    Jansen, Sanne M; de Bruin, Daniel M; Faber, Dirk J; Dobbe, Iwan J G G; Heeg, Erik; Milstein, Dan M J; Strackee, Simon D; van Leeuwen, Ton G

    2017-08-01

    Patient morbidity and mortality due to hemodynamic complications are a major problem in surgery. Optical techniques can image blood flow in real-time and high-resolution, thereby enabling perfusion monitoring intraoperatively. We tested the feasibility and validity of laser speckle contrast imaging (LSCI), optical coherence tomography (OCT), and sidestream dark-field microscopy (SDF) for perfusion diagnostics in a phantom model using whole blood. Microvessels with diameters of 50, 100, and 400  μm were constructed in a scattering phantom. Perfusion was simulated by pumping heparinized human whole blood at five velocities (0 to 20  mm/s). Vessel diameter and blood flow velocity were assessed with LSCI, OCT, and SDF. Quantification of vessel diameter was feasible with OCT and SDF. LSCI could only visualize the 400-μm vessel, perfusion units scaled nonlinearly with blood velocity. OCT could assess blood flow velocity in terms of inverse OCT speckle decorrelation time. SDF was not feasible to measure blood flow; however, for diluted blood the measurements were linear with the input velocity up to 1  mm/s. LSCI, OCT, and SDF were feasible to visualize blood flow. Validated blood flow velocity measurements intraoperatively in the desired parameter (mL·min-1·g-1) remain challenging. (2017) COPYRIGHT Society of Photo-Optical Instrumentation Engineers (SPIE).

  19. Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)

    NARCIS (Netherlands)

    Claustres, Mireille; Kozich, Viktor; Dequeker, Els; Fowler, Brain; Hehir-Kwa, Jayne Y.; Miller, Konstantin; Oosterwijk, Cor; Peterlin, Borut; van Ravenswaaij-Arts, Conny; Zimmermann, Uwe; Zuffardi, Orsetta; Hastings, Ros J.; Barton, David E.

    Genetic test results can have considerable importance for patients, their parents and more remote family members. Clinical therapy and surveillance, reproductive decisions and genetic diagnostics in family members, including prenatal diagnosis, are based on these results. The genetic test report

  20. Practical X-ray diagnostics orthopedics and trauma surgery. Indication, adjustment technique and radiation protection; Praktische Roentgendiagnostik Orthopaedie und Unfallchirurgie. Indikation, Einstelltechnik, Strahlenschutz

    Energy Technology Data Exchange (ETDEWEB)

    Flechtenmacher, Johannes [Ortho-Zentrum am Ludwigsplatz, Karlsruhe (Germany); Sabo, Desiderius [Klinik St. Elisabeth, Heidelberg (Germany). Sportopaedic Heidelberg

    2014-07-01

    The book on X-ray diagnostics in orthopedics and trauma surgery includes the following chapters: 1. Introduction: radiation protection, equipment technology radiological diagnostics of skeleton carcinomas, specific aspects of trauma surgery, special aspects of skeleton radiology for children. 2. X-ray diagnostics of different anatomical regions: ankle joint, knee, hips and pelvis, hand and wrist joint, elbow, shoulder, spinal cord. 3. Appendix: radiation protection according to the X-ray regulations.

  1. Prenatal care effectiveness and utilization in Brazil.

    Science.gov (United States)

    Wehby, George L; Murray, Jeffrey C; Castilla, Eduardo E; Lopez-Camelo, Jorge S; Ohsfeldt, Robert L

    2009-05-01

    The impact of prenatal care use on birth outcomes has been understudied in South American countries. This study assessed the effects of various measures of prenatal care use on birth weight (BW) and gestational age outcomes using samples of infants born without and with common birth defects from Brazil, and evaluated the demand for prenatal care. Prenatal visits improved BW in the group without birth defects through increasing both fetal growth rate and gestational age, but prenatal care visits had an insignificant effect on BW in the group with birth defects when adjusting for gestational age. Prenatal care delay had no effects on BW in both infant groups but increased preterm birth risk in the group without birth defects. Inadequate care versus intermediate care also increased LBW risk in the group without birth effects. Quantile regression analyses revealed that prenatal care visits had larger effects at low compared with high BW quantiles. Several other prenatal factors and covariates such as multivitamin use and number of previous live births had significant effects on the studied outcomes. The number of prenatal care visits was significantly affected by several maternal health and fertility indicators. Significant geographic differences in utilization were observed as well. The study suggests that more frequent use of prenatal care can increase BW significantly in Brazil, especially among pregnancies that are uncomplicated with birth defects but that are at high risk for low birth weight. Further research is needed to understand the effects of prenatal care use for pregnancies that are complicated with birth defects.

  2. 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.

  3. Noninvasive prenatal testing for fetal aneuploidy: clinical assessment and a plea for restraint.

    Science.gov (United States)

    Norton, Mary E; Rose, Nancy C; Benn, Peter

    2013-04-01

    The recent introduction of clinical tests to detect fetal aneuploidy by analysis of cell-free DNA in maternal plasma represents a tremendous advance in prenatal diagnosis and the culmination of many years of effort by researchers in the field. The development of noninvasive prenatal testing for clinical application by commercial industry has allowed much faster introduction into clinical care, yet also presents some challenges regarding education of patients and health care providers struggling to keep up with developments in this rapidly evolving area. It is important that health care providers recognize that the test is not diagnostic; rather, it represents a highly sensitive and specific screening test that should be expected to result in some false-positive and false-negative diagnoses. Although currently being integrated in some settings as a primary screening test for women at high risk of fetal aneuploidy, from a population perspective, a better option for noninvasive prenatal testing may be as a second-tier test for those patients who screen positive by conventional aneuploidy screening. How noninvasive prenatal testing will ultimately fit with the current prenatal testing algorithms remains to be determined. True cost-utility analyses will be needed to determine the actual clinical efficacy of this approach in the general prenatal population.

  4. Prenatal meditation influences infant behaviors.

    Science.gov (United States)

    Chan, Ka Po

    2014-11-01

    Meditation is important in facilitating health. Pregnancy health has been shown to have significant consequences for infant behaviors. In view of limited studies on meditation and infant temperament, this study aims to explore the effects of prenatal meditation on these aspects. The conceptual framework was based on the postulation of positive relationships between prenatal meditation and infant health. A randomized control quantitative study was carried out at Obstetric Unit, Queen Elizabeth Hospital in Hong Kong. 64 pregnant Chinese women were recruited for intervention and 59 were for control. Outcome measures were cord blood cortisol, infant salivary cortisol, and Carey Infant Temperament Questionnaire. Cord blood cortisol level of babies was higher in the intervention group (pmeditation can influence fetal health. Carey Infant Temperament Questionnaire showed that the infants of intervention group have better temperament (pmeditation in relation to child health. Present study concludes the positive effects of prenatal meditation on infant behaviors and recommends that pregnancy care providers should provide prenatal meditation to pregnant women.

  5. Prenatal diagnosis of 47,XXX.

    Science.gov (United States)

    Khoury-Collado, Fady; Wehbeh, Ammar N; Fisher, Allan J; Bombard, Allan T; Weiner, Zeev

    2005-05-01

    We report 2 cases of 47,XXX that were diagnosed prenatally and were screened positive for trisomy 21 by biochemical and ultrasound markers. These cases underline the importance of discussing the sex chromosome abnormalities during the genetic counseling after an abnormal triple screen test or ultrasound examination.

  6. Prenatal diagnosis of congenital diseases

    NARCIS (Netherlands)

    M.F. Niermeijer (Martinus)

    1975-01-01

    textabstractPrenatal diagnosis of a number of congenital diseases is possible by amniocentesis in the 14th - 16th week of pregnancy and subsequent analysis of cultured amniotic fluid cells or amniotic fluid supernatant. Parents at risk for a child with a chromosomal disorder, an X-linked disease, a

  7. Validation of multiple diagnostic techniques to detect Cryptosporidium sp. and Giardia sp. in free-ranging western lowland gorillas (Gorilla gorilla gorilla) and observations on the prevalence of these protozoan infections in two populations in Gabon.

    Science.gov (United States)

    van Zijll Langhout, Martine; Reed, Patricia; Fox, Mark

    2010-06-01

    Anthropozoonotic diseases threaten the survival of western lowland gorillas (Gorilla gorilla gorilla). Use of accurate diagnostic techniques in gorilla health monitoring contributes to the conservation of gorillas by providing robust information for appropriate management decisions. To identify suitable protozoa diagnostic techniques for wild gorillas, 95 fecal specimens were collected in Lopé National Park and east of Moukalaba-Doudou National Park in Gabon, areas with high and low levels of human activity, respectively. The samples were examined for Cryptosporidium sp. and Giardia sp. by using the following diagnostic techniques: a commercially available immunofluorescent antibody test kit, Merifluor, and a rapid immune-assay, ImmunoCard STAT!, to detect Cryptosporidium sp. and Giardia sp., and a modified Ziehl-Neelsen stain to detect Cryptosporidium sp. oocysts. The results obtained from the Merifluor test, considered the "gold standard" in human studies, were used to estimate the prevalence of Cryptosporidium sp. and Giardia sp. infections in Lopé National Park (19.0% and 22.6%, respectively) and east of Moukalaba-Doudou National Park (0% and 9.1%, respectively). The difference in prevalence in both areas may be associated with differing levels of anthropogenic disturbance. The sensitivity and specificity of the latter two diagnostic techniques were calculated by using the Merifluor test as a control. The ImmunoCard STAT! was found suitable for Giardia sp. antigen detection (specific but not sensitive) and inappropriate for Cryptosporidium sp. antigen detection (not specific or sensitive). The modified Ziehl-Neelsen stain was found to be highly specific but not sensitive in the detection of Cryptosporidium sp. oocysts. These results underline the necessity of using ancillary tests and concentration methods to correctly identify positive samples. This is the first report of Cryptosporidium sp. and Giardia sp. infections in free-ranging western lowland gorillas

  8. Plasma diagnostics for tokamaks and stellarators

    Energy Technology Data Exchange (ETDEWEB)

    Stott, P. E.; Sanchez, J.

    1994-07-01

    A collection of papers on plasma diagnostics is presented. The papers show the state of the art developments in a series of techniques: Magnetic diagnostics, Edge diagnostics, Langmuir probes, Spectroscopy, Microwave and FIR diagnostics as well as Thomson Scattering. Special interest was focused on those diagnostics oriented to fluctuations measurements in the plasma. (Author) 451 refs.

  9. Prenatal 3D Ultrasound Diagnostics in Cleidocranial Dysplasia

    DEFF Research Database (Denmark)

    Hermann, NV; Hove, HD; Jørgensen, C

    2009-01-01

    A 34-year-old Caucasian woman with cleidocranial dysplasia (CCD) and a known family history of CCD was referred for an ultrasound examination in the first trimester of her second pregnancy. Molecular genetic analysis of the RUNX2 gene was non-informative. A routine 2D ultrasound examination carried...... in the calvarial midline and missing nasal bones, are easily recognizable using 3D ultrasound as early as in week 15. Copyright (C) 2009 S. Karger AG, Basel....

  10. Credibility of the combined test in prenatal diagnostics

    Directory of Open Access Journals (Sweden)

    Lončar Dragan

    2011-01-01

    Full Text Available Congenital anomalies are the cause of perinatal death in 20-25% of the cases, while 3% of children are born with malformation of varying size. The objective of this study was to examine the predictive value and define the credibility ratio of the combined test results. Of 317 examined pregnant women, we had sixteen (5.05% with the result of pathological karyotype after amniocentesis including: nine (2.84% with fetal numerical aberrations and seven (2.21% with fetal structural aberrations. While determining the ultrasonographic parameters of the combined test we used the standards of the Fetal Medicine Foundation. We carried out the quantitative settings of free β-HCG and PAPP-A from vein blood of patients by applying commercial tests of firm DPC-USA. Tests were based on the analytical immunochemiluminescence assay and were realized by using the automated analyzer IMMULITE 2000. Manufacturer of the analyzer is also the firm DPC-USA. Sensitivity of the test is 94%, and specificity is 99%. Positive likelihood ratio [likelihood ratio test (LR+] is 94.00, a negative likelihood ratio is [likelihood ratio test (LR-] 12:06. Pretest probability that pregnant women carries fetus with chromosomal abnormality is 1:250 or 0004. Posttest odds after the combined test to discover this abnormality is 0.3760, and probability of the same case is 0.2732 if it happens that the test result is positive. The result of our study confirms the justification of combined test usage in routine clinical practice, since the posttest odds rate in the case of a positive screening increases several times over (almost 90 times, the probability of detecting a chromosomal abnormality was about 70 times. Combined screening test if used methodologically correct, has a high predictive value in detecting fetal congenital anomalies.

  11. Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.

    Science.gov (United States)

    Halley, D; Heukels-Dully, M J

    1977-01-01

    Autoradiographic demonstration of 3H-hypoxanthine incorporation in small numbers of amniotic fluid cells cultured on coverslips is a rapid and practical technique in the prenatal diagnosis of the Lesch-Nyhan mutation. An affected male fetus, a normal male fetus, and a heterozygous female fetus were identified within 14 days after amniocentesis in three pregancies at risk for the Lesch-Nyhan syndrome. Images PMID:856956

  12. FUNCTIONALLY UNIVENTRICULAR HEARTS: IMPACT OF PRE-NATAL DIAGNOSIS

    Directory of Open Access Journals (Sweden)

    Antonio Francesco Corno

    2015-02-01

    Full Text Available Within the last few decades the pre-natal echocardiographic diagnosis of congenital heart defects has made substantial progresses, particularly for the identification of complex malformation. Functionally univentricular hearts categorize a huge variety of heart malformations. Since no one of the patients with these congenital heart defects can ever undergo a bi-ventricular type of repair, early recognition and decision-making from the neonatal period are required in order to allow for appropriate multiple-step diagnostic and treatment procedures, either of interventional cardiology and/or surgery, on the pathway of univentricular heart. In the literature strong disagreements exist about the potential impact of the pre-natal diagnosis on the early and late outcomes of complex congenital heart defects. This review of the recent reports has been undertaken to better understand the impact of pre-natal diagnosis in functionally univentricular hearts taking into consideration the following topics:•pre-natal screening•outcomes and survival•general morbidity•neurologic and developmental consequences•pregnancy management and delivery planning•resources utilization and costs/benefits issues•ethical implications, parents counseling, interruption of pregnancy versus treatment

  13. Fetal polycystic renal disease: prenatal sonographic findings with pathologic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Jun, Soon Ae; Park, Yong Hyun; Cha, Sun Hee; Kay, Jung Woong; Cho, Joo Yeon; Cha, Kwang Yul; Cha, Kyung Sub [Cha Women' s Hospital, Seoul (Korea, Republic of); Chi, Je G. [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1990-04-15

    Polycystic renal disease are congenital disorders, most of which are fatal in the postnatal period. A series of ten cases of polycystic renal disease diagnosed prenatally by ultrasonography is presented. Diagnostic criteria of ultrasonography for cystic renal disease are; 1. enlarge kidney (4 cases) 2. echogenic density of kidney (3 cases) 3. 0.4 - 0.9cm sized multiple cysts within the renal cortex (3 cases) 4. decreased amount of amniotic fluid (4 cases) 5. hydronephrosis (4 cases) 6. distended bladder (2 cases) 7. absence of bladder (2 cases) Eight of ten cases were confirmed by autopsy. Seven cases had other associated congenital anomalies, i.e. pulmonary hypoplasia (5), hepatic fibrosis (3), congenital heart disease (3), tracheoesophageal fistula with imperforate anus (1), caudal regression syndrome (1), Meckel-Gruber syndrome (1) and ambiguous genitalia (2). Additional cytogenetic study of the fetus and the careful family history taking followed by prenatal diagnosis of cystic renal disease. Precise prenatal diagnosis may allow patients the option of elective abortion or may prevent unnecessary obstetric intervention.

  14. Prenatal education for congenital toxoplasmosis.

    Science.gov (United States)

    Di Mario, Simona; Basevi, Vittorio; Gagliotti, Carlo; Spettoli, Daniela; Gori, Gianfranco; D'Amico, Roberto; Magrini, Nicola

    2015-10-23

    Congenital toxoplasmosis is considered a rare but potentially severe infection. Prenatal education about congenital toxoplasmosis could be the most efficient and least harmful intervention, yet its effectiveness is uncertain. To assess the effects of prenatal education for preventing congenital toxoplasmosis. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 May 2015), and reference lists of relevant papers, reviews and websites. Randomized and quasi-randomized controlled trials of all types of prenatal education on toxoplasmosis infection during pregnancy. Cluster-randomized trials were eligible for inclusion. Two review authors independently assessed trials for inclusion and risk of bias, extracted data and checked them for accuracy. Two cluster-randomized controlled trials (RCTs) (involving a total of 5455 women) met the inclusion criteria. The two included trials measured the effectiveness of the intervention in different ways, which meant that meta-analysis of the results was not possible. The overall quality of the two studies, as assessed using the GRADE approach, was low, with high risk of detection and attrition bias in both included trials.One trial (432 women enrolled) conducted in Canada was judged of low methodological quality. This trial did not report on any of the review's pre-specified primary outcomes and the secondary outcomes reported results only as P values. Moreover, losses to follow-up were high (34%, 147 out of 432 women initially enrolled). The authors concluded that prenatal education can effectively change pregnant women's behavior as it increased pet, personal and food hygiene. The second trial conducted in France was also judged of low methodological quality. Losses to follow-up were also high (44.5%, 2233 out of 5023 women initially enrolled) and differential (40% in the intervention group and 52% in the control group). The authors concluded that prenatal education for congenital toxoplasmoses has a

  15. Taenia solium porcine cysticercosis in Madagascar: Comparison of immuno-diagnostic techniques and estimation of the prevalence in pork carcasses traded in Antananarivo city.

    Science.gov (United States)

    Porphyre, V; Betson, M; Rabezanahary, H; Mboussou, Y; Zafindraibe, N J; Rasamoelina-Andriamanivo, H; Costard, S; Pfeiffer, D U; Michault, A

    2016-03-30

    Taenia solium cysticercosis was reported in official veterinary and medical statistics to be highly prevalent in pigs and humans in Madagascar, but few estimates are available for pigs. This study aimed to estimate the seroprevalence of porcine cysticercosis among pigs slaughtered in Antananarivo abattoirs. Firstly, the diagnostic performance of two antigen-ELISA techniques (B158B60 Ag-ELISA and HP10 Ag-ELISA) and an immunoblotting method were compared with meat inspection procedures on a sample of pigs suspected to be infected with (group 1; n=250) or free of (group 2; n=250) T. solium based on direct veterinary inspection in Madagascar. Sensitivity and specificity of the antigen ELISAs were then estimated using a Bayesian approach for detection of porcine cysticercosis in the absence of a gold standard. Then, a third set of pig sera (group 3, n=250) was randomly collected in Antananarivo slaughterhouses and tested to estimate the overall prevalence of T. solium contamination in pork meat traded in Antananarivo. The antigen ELISAs showed a high sensitivity (>84%), but the B158B60 Ag-ELISA appeared to be more specific than the HP10 Ag-ELISA (model 1: 95% vs 74%; model 2: 87% vs 71%). The overall prevalence of porcine cysticercosis in Antananarivo slaughterhouses was estimated at 2.3% (95% credibility interval [95%CrI]: 0.09-9.1%) to 2.6% (95%CrI: 0.1-10.3%) depending on the model and priors used. Since the sample used in this study is not representative of the national pig population, village-based surveys and longitudinal monitoring at slaughter are needed to better estimate the overall prevalence, geographical patterns and main risk factors for T. solium contamination, in order to improve control policies.

  16. Use of sting-response techniques for simulate diagnostics in human esophagus; Uso de tecnicas estimulo-respuesta para simular diagnosticos en esofago humano

    Energy Technology Data Exchange (ETDEWEB)

    Rodriguez, I.; Gonzalez, Y.; Valdes, L.; Alfonso, J.A.; Estevez, E. [Facultad de Quimica Farmacia, Universidad Central de Las Villas (Cuba)

    2003-07-01

    In this work a study of simulation of the gamma graphic studies that are carried out in human esophagus in the Dept. of Nuclear Medicine of the 'Celestino Hernandez Robau Hospital of Santa Clara is presented. For the investigation tubular reactors were used and sting-response techniques with radioactive tracer of Technetium 99 metastable to a concentration of 1 mCi and several flows were applied. The distribution curves of residences times were obtained, those that respond to an equation of the type: Y = A + B exp (- exp((x-C)/D)) - ((x-C/D)+1). They were also carried out, optimizations studies of the doses of the radioactive to give to the patients from 1 mCi (that is the one used in studies) up to 0,5 mCi, and the influences on the obtained distributions of residence time were analyzed. It was confirmed the possibility to lower the doses with clear information of the signal. It was also carried out a simulation of the attenuation of the radiations that takes place in the patients by the interposition of tissues among the analyzed organ, and the detection equipment. It was used paraffin for tissue simulation. It was found the almost independence of the intensity of the radiations with the thickness, for the assayed doses. Lastly it was found a complex mathematical model that responds to the diagnostic curves obtained in these studies, being correlated the coefficients of the pattern with the most important physical parameters of the system, giving it a practical and useful value, all time that the error among the values that this it predicts and the experimental ones do not surpass of 5%. (Author)

  17. Diagnóstico prenatal de artrogriposis múltiple congénita Prenatal diagnosis of arthrogryposis multiplex congenita

    Directory of Open Access Journals (Sweden)

    Ivonne Martínez Vidal

    2013-03-01

    Full Text Available La artrogriposis múltiple congénita puede definirse como una displasia articular sistémica, caracterizada por rigidez articular en múltiples localizaciones de forma congénita. Se presenta un caso en el que se diagnosticó prenatalmente este signo clínico, que puede tener múltiples causas subyacentes.Arthrogryposis multiplex congenita may be defined as a systemic articular dysplasia characterized by articular rigidity in a many locations of congenital origin. A case was presented in which this clinical sign was diagnosed at prenatal phase and it may have many underlying causes.

  18. Rotorcraft Diagnostics

    Science.gov (United States)

    Haste, Deepak; Azam, Mohammad; Ghoshal, Sudipto; Monte, James

    2012-01-01

    Health management (HM) in any engineering systems requires adequate understanding about the system s functioning; a sufficient amount of monitored data; the capability to extract, analyze, and collate information; and the capability to combine understanding and information for HM-related estimation and decision-making. Rotorcraft systems are, in general, highly complex. Obtaining adequate understanding about functioning of such systems is quite difficult, because of the proprietary (restricted access) nature of their designs and dynamic models. Development of an EIM (exact inverse map) solution for rotorcraft requires a process that can overcome the abovementioned difficulties and maximally utilize monitored information for HM facilitation via employing advanced analytic techniques. The goal was to develop a versatile HM solution for rotorcraft for facilitation of the Condition Based Maintenance Plus (CBM+) capabilities. The effort was geared towards developing analytic and reasoning techniques, and proving the ability to embed the required capabilities on a rotorcraft platform, paving the way for implementing the solution on an aircraft-level system for consolidation and reporting. The solution for rotorcraft can he used offboard or embedded directly onto a rotorcraft system. The envisioned solution utilizes available monitored and archived data for real-time fault detection and identification, failure precursor identification, and offline fault detection and diagnostics, health condition forecasting, optimal guided troubleshooting, and maintenance decision support. A variant of the onboard version is a self-contained hardware and software (HW+SW) package that can be embedded on rotorcraft systems. The HM solution comprises components that gather/ingest data and information, perform information/feature extraction, analyze information in conjunction with the dependency/diagnostic model of the target system, facilitate optimal guided troubleshooting, and offer

  19. Noninvasive prenatal testing: the future is now.

    Science.gov (United States)

    Norwitz, Errol R; Levy, Brynn

    2013-01-01

    available from nucleated blood cells extracted from a similar volume of whole maternal blood. There have now been numerous reports on the use of cell-free DNA (cfDNA) for NIPT for chromosomal aneuploidies-especially trisomy (an extra copy of a chromosome) or monosomy (a missing chromosome)-and a number of commercial products are already being marketed for this indication. This article reviews the various techniques being used to analyze cell-free DNA in the maternal circulation for the prenatal detection of chromosome abnormalities and the evidence in support of each. A number of areas of ongoing controversy are addressed, including the timing of maternal blood sampling, the need for genetic counseling, and the use of confirmatory invasive testing. Future applications for this technology are also reviewed.

  20. [Next generation sequencing and its applications in non-invasive prenatal testing of aneuploidies].

    Science.gov (United States)

    Babay, Lilla Éva; Horányi, Dániel; Rigó, János; Nagy, Gyula Richárd

    2015-06-28

    The development of the new generation sequencing techniques brought a new era in the field of DNA sequencing, that also revolutionized the prenatal screening for aneuploidy. In order to provide a more complete view, the authors describe some first generation methods as well as the theoretical and technical background of the next generation methods. In the second part of this review, the authors focuse on non-invasive prenatal testing, which is a fetal cell-free DNA based method requiring advanced sequencing procedures. After discussing the theoretical and technical background, the authors review current application and utility of non-invasive prenatal testing. They conclude that non-invasive prenatal testing is the most effective screening test in high risk pregnancies and its efficiency can be justified in studies involving low risk pregnancies as well.

  1. Prenatal diagnosis of cloacal malformation.

    Science.gov (United States)

    Peiro, Jose L; Scorletti, Federico; Sbragia, Lourenco

    2016-04-01

    Persistent cloaca malformation is the most severe type of anorectal and urogenital malformation. Decisions concerning the surgical treatment for this condition are taken during the first hours of life and may determine the quality of life of these patients. Thus, prenatal diagnosis becomes important for a prompt and efficient management of the fetus and newborn, and accurate counseling of the parents regarding its consequences and the future of the baby. Careful evaluation by ultrasonography, and further in-depth analysis with MRI, allow prenatal detection of characteristic findings, which can lead to diagnose or at least suspect this condition. We reviewed our experience and the literature in order to highlight the most important clues that can guide the physician in the differential diagnosis. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Prenatal Diagnosis of Arachnoid Cysts

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-09-01

    Full Text Available Arachnoid cysts are a rare central nervous system malformation, representing only 1% of all intracranial masses in newborns. Primary (congenital arachnoid cysts are benign accumulation of clear fluid between the dura and the brain substance throughout the cerebrospinal axis in relation to the arachnoid membrane and do not communicate with the subarachnoid space. Secondary (acquired arachnoid cysts result from hemorrhage, trauma, and infection and usually communicate with the subarachnoid space. The common locations of arachnoid cysts are the surface of the brain at the level of main brain fissures, such as sylvian, rolandic and interhemispheric fissures, sella turcica, the anterior cranial fossa, and the middle cranial fossa. Arachnoid cysts may be associated with ventriculomegaly and dysgenesis of corpus callosum. Prenatal ultrasound and magnetic resonance imaging have led to the increased diagnosis of fetal arachnoid cysts. This article provides a thorough review of fetal arachnoid cysts, including prenatal diagnosis, differential diagnosis and associated chromosomal abnormalities, as well as comprehensive illustrations of perinatal imaging findings of fetal arachnoid cysts. Prenatal diagnosis of intracranial hypoechoic lesions should include a differential diagnosis of arachnoid cysts and prompt genetic investigations.

  3. Noninvasive Prenatal Genetic Testing: Current and Emerging Ethical, Legal, and Social Issues.

    Science.gov (United States)

    Minear, Mollie A; Alessi, Stephanie; Allyse, Megan; Michie, Marsha; Chandrasekharan, Subhashini

    2015-01-01

    Noninvasive prenatal genetic testing (NIPT) for chromosomal aneuploidy involving the analysis of cell-free fetal DNA became commercially available in 2011. The low false-positive rate of NIPT, which reduces unnecessary prenatal invasive diagnostic procedures, has led to broad clinician and patient adoption. We discuss the ethical, legal, and social issues raised by rapid and global dissemination of NIPT. The number of women using NIPT is anticipated to expand, and the number of conditions being tested for will continue to increase as well, raising concerns about the routinization of testing and negative impacts on informed decision making. Ensuring that accurate and balanced information is available to all pregnant women and that access to NIPT is equitable will require policy guidance from regulators, professional societies, and payers. Empirical evidence about stakeholders' perspectives and experiences will continue to be essential in guiding policy development so that advances in NIPT can be used effectively and appropriately to improve prenatal care.

  4. Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Francesca Romana Grati

    2014-07-01

    Full Text Available Chromosomal mosaicism is one of the primary interpretative issues in prenatal diagnosis. In this review, the mechanisms underlying feto-placental chromosomal mosaicism are presented. Based on the substantial retrospective diagnostic experience with chorionic villi samples (CVS of a prenatal diagnosis laboratory the following items are discussed: (i The frequency of the different types of mosaicism (confined placental, CPM, and true fetal mosaicisms, TFM; (ii The risk of fetal confirmation after the detection of a mosaic in CVS stratified by chromosome abnormality and placental tissue involvement; (iii The frequency of uniparental disomy for imprinted chromosomes associated with CPM; (iv The incidence of false-positive and false-negative results in CVS samples analyzed by only (semi-direct preparation or long term culture; and (v The implications of the presence of a feto-placental mosaicism for microarray analysis of CVS and non-invasive prenatal screening (NIPS.

  5. Fatal tumors: prenatal ultrasonographic findings and clinical characteristics

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Jeong Yeon [Dept. of Radiology, Seoul National University College of Medicine, Seoul (Korea, Republic of); Lee, Young Ho [Dept. of Radiology, Cheil General Hospital and Women' s Healthcare Center, Kwandong University College of Medicine, Seoul (Korea, Republic of)

    2014-12-15

    The incidence of fetal tumors has been increased due to generalization of prenatal evaluation and improvement of imaging techniques. The early detection of a fetal tumor and understanding of its imaging features are very important for fetal, maternal, and neonatal care. Ultrasonography is usually used for the detection and differential diagnosis of fetal tumors, and magnetic resonance imaging is increasingly being used as a complementary study. Many fetal tumors have different clinical and imaging features compared with pediatric tumors. Although several fetal tumors may mimic other common anomalies, some specific imaging features may carry early accurate diagnosis of fetal tumors, which may alter the prenatal management of a pregnancy and the mode of delivery, and facilitate immediate postnatal treatment.

  6. Diagnostics of Nanodusty Plasma

    Science.gov (United States)

    Greiner, Franko; Groth, Sebastian; Tadsen, Bejamin; Piel, Alexander

    2015-11-01

    The diagnostic of nanodusty plasmas, i.e. plasmas including nano-sized dust particles, is a challenging task. For both, the diagnostic of the nanodusty plasma itself, and the in-situ diagnostic of the nanoparticles, no standard diagnostic exist. Nanodust particle size and density can be estimated using light scattering techniques, namely kinetic Mie ellipsometry and extinction measurements. The charge of the nanoparticles can be estimated from the analysis of dust density waves (DDW). Parameters like the electron density, which give information about the plasma itself, may be deduced from the DDW analysis. We present detailed investigations on nanodust in a reactive Argon-Acetylene plasma created in an rf-driven parallel plate reactor at low pressure using the above mentioned portfolio of diagnostic. Funded by DFG under contract SFB TR-24/A2.

  7. Toward healthy offspring: Some origins of prenatal testing in Spain

    Directory of Open Access Journals (Sweden)

    Santesmases, María Jesús

    2008-06-01

    Full Text Available This paper deals with prenatal diagnosis practices in Spain. For pursuing this aim it reviews both literature on the origins of these practices in foreign countries as well as some of the early publications by Spanish practitioners. Those publications appeared to be connected to previous genetic testing in children such as the case of Down syndrome. Socio-political norms and values of Franco’s regime together with clinicians’ interests on introducing new testing techniques resulted in the stabilization of these practices associated to a reconceptualisation of pregnancy. Although prenatal diagnosis techniques made the body of pregnant women invisible, women’s bodies remained at the core of the technicalisation of contemporary reproductive options.

    Este trabajo reflexiona sobre las prácticas de diagnóstico prenatal en España. Con este fin se manejan tanto bibliografía sobre los orígenes de estas prácticas en otros países como datos encontrados en las primeras publicaciones al respecto de especialistas de nuestro país. Estas publicaciones se relacionan también con algunas previas sobre diagnóstico genético en la clínica en el caso del síndrome de Down. Se sugiere que las normas sociopolíticas propias de la dictadura de Franco se combinaron con la difusión de técnicas desarrolladas en el extranjero para estabilizar prácticas médicas asociadas a una reconceptualización del embarazo. Las técnicas de diagnóstico prenatal, pese a invisibilizar el cuerpo de las mujeres, mantienen a este en el centro de la tecnificación de las opciones reproductivas contemporáneas.

  8. Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally.

    Science.gov (United States)

    Dempsey, M A; Knight Johnson, A E; Swope, B S; Moldenhauer, J S; Sroka, H; Chong, K; Chitayat, D; Briere, L; Lyon, H; Palmer, N; Gopalani, S; Siebert, J R; Lévesque, S; Leblanc, J; Menzies, D; Haverfield, E; Das, S

    2014-02-01

    Cornelia de Lange syndrome (CdLS) is characterized by distinct facial features, growth retardation, upper limb reduction defects, hirsutism, and intellectual disability. NIPBL mutations have been identified in approximately 60% of patients with CdLS diagnosed postnatally. Prenatal ultrasound findings include upper limb reduction defects, intrauterine growth restriction, and micrognathia. CdLS has also been associated with decreased PAPP-A and increased nuchal translucency (NT). We reviewed NIPBL sequence analysis results for 12 prenatal samples in our laboratory to determine the frequency of mutations in our cohort. This retrospective study analyzed data from all 12 prenatal cases with suspected CdLS, which were received by The University of Chicago Genetic Services Laboratories. Diagnostic NIPBL sequencing was performed for all samples. Clinical information was collected from referring physicians. NIPBL mutations were identified in 9 out of the 12 cases prenatally (75%). Amongst the NIPBL mutation-positive cases with clinical information available, the most common findings were upper limb malformations and micrognathia. Five patients had NT measurements in the first trimester, of which four were noted to be increased. We demonstrate that prenatally-detected phenotypes of CdLS, particularly severe micrognathia and bilateral upper limb defects, are associated with an increased frequency of NIPBL mutations. © 2013 John Wiley & Sons, Ltd.

  9. Prenatal Maternal Stress Programs Infant Stress Regulation

    Science.gov (United States)

    Davis, Elysia Poggi; Glynn, Laura M.; Waffarn, Feizal; Sandman, Curt A.

    2011-01-01

    Objective: Prenatal exposure to inappropriate levels of glucocorticoids (GCs) and maternal stress are putative mechanisms for the fetal programming of later health outcomes. The current investigation examined the influence of prenatal maternal cortisol and maternal psychosocial stress on infant physiological and behavioral responses to stress.…

  10. Prenatal Maternal Stress Programs Infant Stress Regulation

    Science.gov (United States)

    Davis, Elysia Poggi; Glynn, Laura M.; Waffarn, Feizal; Sandman, Curt A.

    2011-01-01

    Objective: Prenatal exposure to inappropriate levels of glucocorticoids (GCs) and maternal stress are putative mechanisms for the fetal programming of later health outcomes. The current investigation examined the influence of prenatal maternal cortisol and maternal psychosocial stress on infant physiological and behavioral responses to stress.…

  11. Improved prenatal detection of chromosomal anomalies

    DEFF Research Database (Denmark)

    Frøslev-Friis, Christina; Hjort-Pedersen, Karina; Henriques, Carsten U;

    2011-01-01

    Prenatal screening for karyotype anomalies takes place in most European countries. In Denmark, the screening method was changed in 2005. The aim of this study was to study the trends in prevalence and prenatal detection rates of chromosome anomalies and Down syndrome (DS) over a 22-year period....

  12. Prenatal Yoga: What You Need to Know

    Science.gov (United States)

    ... promote your baby's health? Before you start prenatal yoga, understand the range of possible benefits, as well as what a typical class entails ... centering and focused breathing. Research suggests that prenatal yoga is safe ... many benefits for pregnant women and their babies. Research suggests ...

  13. Conceptions of Prenatal Development: Behavioral Embryology

    Science.gov (United States)

    Gottlieb, Gilbert

    1976-01-01

    Describes recent progress in research on prenatal behavioral development and in a systematic fashion the various ways in which prenatal experience can affect the development of behavior in the neonate as well as in the embryo and fetus. (Author/RK)

  14. Prenatal exclusion of the HHH syndrome.

    Science.gov (United States)

    Gray, R G; Green, A; Hall, S; McKeown, C

    1995-05-01

    Prenatal diagnosis of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria syndrome is described by the analysis of ornithine incorporation in second-trimester cultured amniotic fluid cells. An unaffected fetus was predicted and confirmed in the newborn child. This is the third reported prenatal diagnosis for this disorder and the second predicting an unaffected fetus.

  15. Pai syndrome: challenging prenatal diagnosis and management

    Energy Technology Data Exchange (ETDEWEB)

    Blouet, Marie [Centre Hospitalier Universitaire de Caen, Department of Radiology, Caen (France); University of Lower Normandie, Caen (France); Belloy, Frederique [Centre Hospitalier Universitaire de Caen, Department of Radiology, Caen (France); Jeanne-Pasquier, Corinne [Centre Hospitalier Universitaire de Caen, Department of Pathology, Caen (France); Leporrier, Nathalie [University of Lower Normandie, Caen (France); Centre Hospitalier Universitaire de Caen, Department of Genetics, Caen (France); Benoist, Guillaume [University of Lower Normandie, Caen (France); Centre Hospitalier Universitaire, Pole Femmes-Enfants, Department of Obstetrics and Gynecology, Caen (France)

    2014-09-15

    Pai syndrome is a rare disorder that includes midline cleft lip, pericallosal lipoma and cutaneous polyp of the face. We report a case of prenatal diagnosis using sonography and MRI. We emphasize the importance of facial examination with prenatal association of midline cleft lip and pericallosal lipoma in making the diagnosis of Pai syndrome. (orig.)

  16. Summary receiver operating characteristic curves as a technique for meta-analysis of the diagnostic performance of duplex ultrasonography in peripheral arterial disease

    NARCIS (Netherlands)

    deVries, SO; Hunink, MGM; Polak, JF

    1996-01-01

    Rationale and Objectives. We summarized and compared the diagnostic performance of duplex and color-guided duplex ultrasonography in the evaluation of peripheral arterial disease. We present our research as an example of the use of summary receiver operating characteristic (ROC) curves in a meta-ana

  17. Prenatal Diagnosis of Congenital Dermal Sinus

    Directory of Open Access Journals (Sweden)

    Sharif Sakr

    2015-04-01

    Full Text Available Background - Congenital dermal sinus (CDS is an uncommon form of spinal dysraphism. Although postdelivery identification in the neonate is aided by several associated physical examination findings, establishing this diagnosis prenatally has proven to be elusive. Case Report - We present a case of CDS where the prenatal findings at 20 weeks gestation led to the diagnosis, which was confirmed postnatally. The associated protrusion of fibrotic membranes through the sinus tract helped in the identification of this lesion prenatally, but created confusion with a more common type of lesion, an open neural tube defect. This is the first case report in the literature describing prenatal diagnosis of fetal CDS. Conclusion - Prenatal diagnosis with postnatal confirmation of CDS leads to early intervention, better long-term outcomes, and lesser complications.

  18. Prenatal magnetic resonance imaging as a useful adjunctive to ultrasound-enhanced diagnosis in case of a giant foetal tumour of the neck.

    Science.gov (United States)

    Mittermayer, C; Brugger, P C; Lee, A; Horcher, E; Hayde, M; Bernaschek, G; Prayer, D

    2005-02-01

    Large cervical masses in the prenatal period are rare and can cause life threatening situations after birth. All available diagnostic techniques should therefore be used to determine the best mode of delivery in the case of such malformation. A large cervical mass was detected by ultrasound in a 41-year-old women, gravida 4, para 3, at 29 + 5 weeks of gestation. US imaging was most consistent with the diagnosis of a large cervical teratoma, but it was not possible to sufficiently evaluate the cervical anatomy of the oropharynx and trachea. An MRI scan demonstrated a distorted oropharynx and a trachea displaced to the right and posteriorly, but not detectable from the middle of the neck up to the larynx. Based on these facts, an EXIT procedure was planned and performed at 30 + 5 weeks of gestation. Foetal MRI provided valuable anatomical information for all specialists deciding on the indication and the pre-therapeutic planning of the EXIT procedure.

  19. Research progress of laboratory diagnostic techniques for Brucella%布鲁杆菌实验室诊断技术研究进展

    Institute of Scientific and Technical Information of China (English)

    周梅

    2012-01-01

    tests play a major role in diagnosis when the bacteria cannot be detected by culture. The routine identification and differentiation of Brucellaspecies is a time-consuming and labor-intensive process which frequently places personnel at risk of laboratory-acquired infection and the bacteria from laboratory diffusion. In recent years the appeared new immunological methods and polymerase chain reaction has high sensitivity and specificity. The article reviews the laboratory diagnostic techniques and research progress of Brucella.

  20. Molecular diagnostic technique in the diagnosis of cardiovascular disease:application and challenge%分子诊断技术在心血管疾病诊疗中的应用与挑战

    Institute of Scientific and Technical Information of China (English)

    黄山; 张春阳

    2015-01-01

    Application ofmolecular diagnostic technique has shown greatpotential and technical advantages in the diagnosis and treatment of cardiovascular disease ( CVD ) .It can be used toscreening , diagnosis , treatment and prognostic evaluation of CVD disease .Early screening helps to notice the risk of the disease, make us take appropriate measures to reduce the health care costs and improve outcomes .To achieve the highest diagnostic efficiency by applying different molecular diagnostic strategies in different diseases.In term of treatment, molecular diagnostic technologies are mainly used in the drug discovery , personalized drug therapy and treatment options; In addition, prognostic assessment of CVD is also an important development direction of molecular diagnostic technique .However, there are severe challenges remained in applying molecular diagnostic techniques in CVD disease , such as the basic andclinicalapplication research and the quality control , etc.%分子诊断技术在心血管疾病诊疗上的应用,已经显示了巨大的潜力和技术优势,可用于心血管疾病的筛查、诊断、治疗和预后评价。筛查有助于预告疾病风险、提早采取相应措施降低医疗成本和改善预后;对不同的疾病采用不同的分子诊断策略,可以达到最佳的诊断效能;分子诊断技术在治疗方面主要应用于新药研发、个性化药物治疗和治疗方案选择;对心血管疾病进行预后评估也是分子诊断技术的重要发展方向。分子诊断技术在心血管疾病的基础和临床应用研究、质量管理等方面,也存在着严峻的挑战。(中华检验医学杂志,2015,38:433-435)

  1. 等位基因特异性引物延伸法在婴儿型和幼儿型神经元蜡样质脂褐质沉积病产前诊断中的应用%Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE)

    Institute of Scientific and Technical Information of China (English)

    Nanbert ZHONG; Weina JU; Dorota MOROZIEWICZ; Anetta WRONSKA; Marilyn LI; Krystyna WISNIEWSKI; Susan Sklower BROOKS; Edmund JENKINS; W. Ted BROWN

    2005-01-01

    SUMMARY Infantile (INCL, NCL1) and late-infantile (LINCL, NCL2) neuronal ceroid lipofuscinoses have been found to result from genetic deficiency of genes CLN1 and CLN2, respectively. The application of molecular analyses can facilitate prenatal diagnosis for families affected by NCL1 or NCL2, in which the familial mutation(s) have been identified. Molecular testing with allele-specific primer extension and DNA sequencing was performed in nine pregnancies, four from two NCL1 families and five from five NCL2 families. Lysosomal enzyme activity assays were carried out as well.Four fetuses from three pregnancies in NCL1 families were found to be carriers for a mutation 451C-T in the CLN1 gene and one was normal. Prenatal testing of three NCL2 families who carried mutation R208X in the CLN2 gene showed that all fetuses were carriers. In NCL2 families who carried either mutation IVS5-1C or/and IVS5-1A two normal pregnancies were detected. Our studies indicate that DNA testing, which may provide definitive prenatal diagnosis for NCL, may be used in combination with lysosomal enzyme activity analyses.

  2. Prenatal Mercuric Chloride Exposure Causes Developmental Deficits in Rat Cortex

    Directory of Open Access Journals (Sweden)

    Tayebeh Rastegar

    2011-09-01

    Full Text Available Introduction: Environmental pollution with heavy metals such as mercury is a major health problem. Growing studies on the field have shown the deleterious effects of mercury on human and nonhuman nervous system, especially in infants, however the effects of prenatal exposure to mercuricchloride on cortical development are not yet well understood. The aim of this study was to investigate the effect of prenatal exposure to mercuric chloride on morphological characteristics of brain cortex. Methods: Mercuric chloride (2 mg/kg or normal saline were injected (I.P. to 36 Sprague – dawley rats in the 8th, 9th or 10th day of gestation. The embryos were surgically removed in the 15th day of gestation, and brain cortices were studied by histological techniques. Results: Histological studies showed that embryos of mercuric chloride treated rats hadcortical neuronal disarrangement withdifferent orientations of nuclei, increased diameter of cortex, increased mitosis of cells, increased cell death, decreased cellular density and increased intracellular space. Conclusion: These findings suggest some micro structural abnormalities in cortical regions after prenatal exposure to mercuric chloride. These structural abnormalities may underliesome neurologic disturbances following mercury intoxication.

  3. Molecular Basis and prenatal diagnosis of B- Thalassemia in Southeast if Iran

    Directory of Open Access Journals (Sweden)

    E. Miri Moghadam

    2005-01-01

    Full Text Available Background and purpose : bata thlassemia is the most common monogenic disorders in Iran. The gene frequency varies the country. Sistan and Baluchistan province, located in the southeast of iran with more than 1200 affected individuals, represents one of the regions where thalassemia id not only an important public health problem but also a socioeconomic problem. As a matter of fact high frequency of ß- thalassemia gene inter- family marriages, evasion of couples to carry out pre- marriage blood test, avoidance of counseling before wedding and eagerness for more children in spite of having ß - thalassemia kids collectively prompted us to eatablish prenatal diagnostic center in khordad 1381(May 2002 in this province.Materials and methods : 140 minor thalassemia couples were referred to our center from May 2002 to Feb. 2004. After admission of the couples to the center their demographic data were collected. 10 ml of blood sample was then collected from couples added with anti- coaqulant(0.5 M EDTA. DNA was subsequently extracted before being amplified by Refractory Mutation System(ARMS techniques vs the common primers of B- gene mutations in Iran. Within the 10 to 12th weeks of pregnancy, chorionic villi samples were taken and subjected onto two techniques namely direct and indirect. We afterwards evaluated the inheritance of mutation in the fetus from any of his/ her parents.Results : We carried out preliminary diagnosis for 56 couples, as well as first round and further step of prenatal diagnostic procedures for another 84 couples(n= 140. 79. 3% of the total number resided in cities, whereas 87.9% were born in Sistan and Baluchistan province. Out of which 30% and 70% had sistany and Baluchi ethnicity respectively. Furthermore, 60.7% had at least one affected child, while 85.7% had consanguineous marriages. Out of the totalnumber, 57.9% were from Sunni minority. 88.05% of the couples demonstrated one of the common mutations identified in Iran

  4. [Molecular diagnostics and imaging].

    Science.gov (United States)

    Fink, Christian; Fisseler-Eckhoff, Annette; Huss, Ralf; Nestle, Ursula

    2009-01-01

    Molecular diagnostic methods and biological imaging techniques can make a major contribution to tailoring patients' treatment needs with regard to medical, ethical and pharmaco-economic aspects. Modern diagnostic methods are already being used to help identify different sub-groups of patients with thoracic tumours who are most likely to benefit significantly from a particular type of treatment. This contribution looks at the most recent developments that have been made in the field of thoracic tumour diagnosis and analyses the pros and cons of new molecular and other imaging techniques in day-to-day clinical practice.

  5. Prenatal Stress, Prematurity, and Asthma.

    Science.gov (United States)

    Medsker, Brock; Forno, Erick; Simhan, Hyagriv; Celedón, Juan C

    2015-12-01

    Asthma is the most common chronic disease of childhood, affecting millions of children in the United States and worldwide. Prematurity is a risk factor for asthma, and certain ethnic or racial minorities such as Puerto Ricans and non-Hispanic blacks are disproportionately affected by both prematurity and asthma. In this review, we examine current evidence to support maternal psychosocial stress as a putative link between prematurity and asthma, while also focusing on disruption of the hypothalamic-pituitary-adrenal (HPA) axis and immune responses as potential underlying mechanisms for stress-induced "premature asthma." Prenatal stress may cause not only abnormalities in the HPA axis but also epigenetic changes in the fetal glucocorticoid receptor gene (NR3C1), leading to impaired glucocorticoid metabolism. Moreover, maternal stress can alter fetal cytokine balance, favoring TH2 (allergic) immune responses characteristic of atopic asthma: interleukin 6 (IL-6), which has been associated with premature labor, can promote TH2 responses by stimulating production of IL-4 and IL-13. Given a link among stress, prematurity, and asthma, future research should include birth cohorts aimed at confirming and better characterizing "premature asthma." If confirmed, clinical trials of prenatal maternal stress reduction would be warranted to reduce the burden of these common comorbidities. While awaiting the results of such studies, sound policies to prevent domestic and community violence (eg, from firearms) are justified, not only by public safety but also by growing evidence of detrimental effects of violence-induced stress on psychiatric and somatic health.

  6. Prenatal Diagnosis of WAGR Syndrome

    Directory of Open Access Journals (Sweden)

    Berrin Tezcan

    2015-01-01

    Full Text Available Wilm’s tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million. It is a contiguous gene syndrome due to deletion at chromosome 11p13 in a region containing WT1 and PAX6 genes. Children with WAGR syndrome mostly present in the newborn/infancy period with sporadic aniridia. The genotypic defects in WAGR syndrome have been well established. However, antenatal ultrasonographic presentation of this syndrome has never been reported. Prenatal diagnosis of this condition is possible in some cases with careful ultrasound examination of classical and nonclassical manifestations of this syndrome. The key point for this rare diagnosis was the decision to perform chromosomal microarray analysis after antenatal diagnosis of absent corpus callosum and absent cavum septum pellucidum, as this finding mandates search for potentially associated genetic disorders. We report a case of WAGR syndrome diagnosed prenatally at 29-week gestation. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound as well as fetal MRI scan and microarray analysis. The ultrasonographic findings included borderline ventriculomegaly, absent corpus callosum, and absent cavum septum pellucidum. Cytogenetic results from the amniotic fluid confirmed WAGR syndrome. Parental karyotype was normal, with no evidence of copy number change, deletion, or rearrangement of this region of chromosome 11.

  7. Hemimegalencephaly: prenatal diagnosis and outcome.

    Science.gov (United States)

    Alvarez, Rosa María; García-Díaz, Lutgardo; Márquez, Javier; Fajardo, Manuel; Rivas, Eloy; García-Lozano, Juan Carlos; Antiñolo, Guillermo

    2011-01-01

    Hemimegalencephaly (HME) is a developmental abnormality of the central nervous system (CNS) which may present as either a syndromic or isolated case. Here, we present two cases of early prenatal diagnosis of HME. Prenatal CNS ultrasound and MRI in the first case revealed ventricular asymmetry, midline shift with displacement of the occipital lobe across the midline, large dilatation mainly at the posterior horn of the left lateral ventricle, and a head circumference in the 90th percentile without involvement of the brain stem and cerebellum, as well as abdominal lymphangioma. Right hemispherectomy was performed at 3 months of age due to intractable seizures. The pathological specimen showed findings characteristic of HME, including a disorganized cytoarchitecture with lack of neuronal lamination, focal areas of polymicrogyria, and neuronal heterotopias with dysplastic cells. In the second case, 2D and 3D neurosonography demonstrated similar findings (asymmetry of cerebral hemispheres, midline shift, and dilation of the posterior horn of the left lateral cerebral ventricle). Posterior fossa structures were unremarkable. HME was diagnosed and the pregnancy was terminated. Autopsy findings confirmed the diagnosis of HME.

  8. Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

    Directory of Open Access Journals (Sweden)

    Sifakis Stavros

    2012-02-01

    Full Text Available Abstract Wolf-Hirschhorn syndrome (WHS is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of additional genetic rearrangements lead to a wide spectrum of clinical manifestations. The majority of the reports of prenatally diagnosed WHS cases are associated with large 4p deletions identified by conventional chromosome analysis; however, the widespread clinical use of novel molecular techniques such as array comparative genomic hybridization (a-CGH has increased the detection rate of submicroscopic chromosomal aberrations associated with WHS phenotype. We provide a report of two fetuses with WHS presenting with intrauterine growth restriction as an isolated finding or combined with oligohydramnios and abnormal Doppler waveform in umbilical artery and uterine arteries. Standard karyotyping demonstrated a deletion on chromosome 4 in both cases [del(4(p15.33 and del(4(p15.31, respectively] and further application of a-CGH confirmed the diagnosis and offered a precise characterization of the genetic defect. A detailed review of the currently available literature on the prenatal diagnostic approach of WHS in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided.

  9. Assessing prenatal white matter connectivity in commissural agenesis.

    Science.gov (United States)

    Kasprian, Gregor; Brugger, Peter C; Schöpf, Veronika; Mitter, Christian; Weber, Michael; Hainfellner, Johannes A; Prayer, Daniela

    2013-01-01

    Complete or partial agenesis of the corpus callosum are rather common developmental abnormalities, resulting in a wide spectrum of clinical neurodevelopmental deficits. Currently, a significant number of these cases are detected by prenatal sonography during second trimester screening examinations. However, major uncertainties about a detailed morphological diagnosis and the clinical significance do not allow accurate prenatal counselling. Here, we were able to demonstrate the 3D connectivity of aberrant commissural tracts in 16 cases with complete and four cases with partial callosal agenesis using the foetal magnetic resonance imaging techniques of diffusion tensor imaging and tractography in utero and in vivo between gestational weeks 20 and 37. The 'misguided' pre-myelinated callosal axons that represent the bundle of Probst were non-invasively visualized, and they showed a degree of structural integrity similar to that of the callosal pathways of age-matched foetuses without cerebral pathologies. In two foetuses, we were able to prove, by post-mortem histology, that diffusion tensor imaging allows the depiction of the bundle of Probst, even during early stages of pre-myelination at 20 and 22 gestational weeks. In cases with partial callosal agenesis, an aberrant sigmoid-shaped bundle was prenatally depicted, confirming the findings of heterotopic interhemispheric connectivity in adults with partial callosal agenesis. In addition to the corpus callosum, other white matter pathways were also involved, including somatosensory and motor pathways that showed significantly higher fractional anisotropy values in cases with callosal agenesis compared with control subjects. A detailed prenatal assessment of abnormal white matter connectivity in cases of midline anomalies will help to explain and understand the clinical heterogeneity in these cases, taking future foetal neurological counselling strategies to a new level.

  10. A Non-invasive Prenatal Diagnosis Method: Free Fetal DNA in Maternal Plasma

    Directory of Open Access Journals (Sweden)

    Ebru Dundar Yenilmez

    2013-06-01

    Full Text Available Prenatal diagnosis for genetic diseases nowadays is still carried out by invasive procedures such as chorionic villus sampling, amniocentesis or cordocentesis. These techniques, however, accompanied with risk of fetal losses. Non-invasive prenatal diagnosis tests based on the analysis of fetal DNA in maternal plasma have potential to be a safer alternative to invasive methods. Non-invasive prenatal diagnosis has been a long-standing research theme in prenatal medicine. The discovery of cell-free fetal nucleic acids in maternal plasma in 1997 has opened new possibilities for noninvasive prenatal diagnosis. The measurement and detection of fetal DNA in maternal plasma and serum has led to clinical applications for the identification of fetal aneuploidies, pre-eclamptic pregnancies, noninvasive diagnosis of fetal Rhesus D genotype and some single gene disorders. The detection of fetal DNA sequences is a reality and could reduce the risk of invasive techniques for certain fetal disorders in the near future. [Archives Medical Review Journal 2013; 22(3.000: 317-334

  11. Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL.

    Science.gov (United States)

    Lalatta, Faustina; Russo, Silvia; Gentilin, Barbara; Spaccini, Luigina; Boschetto, Chiara; Cavalleri, Florinda; Masciadri, Maura; Gervasini, Cristina; Bentivegna, Angela; Castronovo, Paola; Larizza, Lidia

    2007-03-01

    This study reviews prenatal findings in two cases with a suspected diagnosis of Cornelia de Lange Syndrome, a multisystem disorder characterized by somatic defects and mental retardation, that were later confirmed by postmortem examination and molecular testing. Although the correlation between the Cornelia de Lange Syndrome genotype and phenotype is still unclear, preliminary data indicate several severe phenotypic features that are likely to be detected prenatally in NIPBL-mutated patients. We report on two prenatal/neonatal cases with unusual pathologic findings indicating Cornelia de Lange Syndrome. The first, with suspected Cornelia de Lange Syndrome after a set of typical dysmorphisms was noted by prenatal ultrasound, was confirmed by a physical examination after termination of the pregnancy. The second was diagnosed neonatally on the basis of typical clinical signs. Medical complications led to death within the first month of life. Molecular analysis of NIPBL, the gene that codes for delangin (a component of the cohesin complex), performed postnatally detected two de novo mutations: a missense change (P2056L) in a highly conserved residue and a nonsense alteration (S2490 replaced by a stop codon). We suggest that early diagnosis of Cornelia de Lange Syndrome would be made much easier by the assemblage of a set of prenatal diagnostic features and criteria in Cornelia de Lange Syndrome cases that have been confirmed by direct physical and molecular examinations. We also suggest that Cornelia de Lange Syndrome genotype-phenotype correlations need to be extended to prenatal cases.

  12. Prenatal care and subsequent birth intervals.

    Science.gov (United States)

    Teitler, Julien O; Das, Dhiman; Kruse, Lakota; Reichman, Nancy E

    2012-03-01

    Prenatal care generally includes contraceptive and health education that may help women to control their subsequent fertility. However, research has not examined whether receipt of prenatal care is associated with subsequent birthspacing. Longitudinally linked birth records from 113,662 New Jersey women who had had a first birth in 1996-2000 were used to examine associations between the timing and adequacy of prenatal care prior to a woman's first birth and the timing of her second birth. Multinomial logistic regression analyses adjusted for social and demographic characteristics, hospital and year of birth. Most women (85%) had initiated prenatal care during the first trimester. Women who had not obtained prenatal care until the second or third trimester, or at all, were more likely than those who had had first-trimester care to have a second child within 18 months, rather than in 18-59 months (odds ratios, 1.2-1.6). Similarly, women whose care had been inadequate were more likely than those who had had adequate care to have a short subsequent birth interval (1.2). The associations were robust to alternative measures of prenatal care and birth intervals, and were strongest for mothers with less than 16 years of education. Providers should capitalize on their limited encounters with mothers who initiate prenatal care late or use it sporadically to ensure that these women receive information about family planning. Copyright © 2012 by the Guttmacher Institute.

  13. Results and Pitfalls in Prenatal Cytogenetic Diagnosis

    Science.gov (United States)

    Hsu, Lillian Y. F.; Dubin, Elyse C.; Kerenyi, Thomas; Hirschhorn, Kurt

    1973-01-01

    Since 1969, we have cultured over 200 diagnostic amniotic fluids. Of these, 183 were for cytogenetic diagnosis. The chromosome analysis was successful in 168 cases. The indications and the results of the affected fetuses (followed by therapeutic abortion) are: (1) previous child with Down's syndrome: 62 cases (1:47,XX,+21); (2) advanced maternal age: 54 cases (1:47,XXY; 1:45,X/46,XY mosaicism; 1:47,+18); (3) previous child with multiple anomalies: 12 cases; (4) previous child with 47,XY,+18 or 47,+13: five cases; (5) translocation carrier: two cases; (6) parental mosaicism: three cases; (7) X-linked disorders: six cases (3:XY); (8) others: 24 cases. We have found firstly, that for prenatal sex determination, karyotype analysis of the cultured amniotic fluid cells is the only accurate means and that caution must be taken if sex chromatin and Y-fluorescent body determination from the uncultured amniotic fluid cells is used. Secondly, that diagnosis of chromosomal mosaicism can be problematic as exemplified by our case of 45,X/46,XY mosaicism, where only 45,X cells were recovered from the first culture. Thirdly, that in cases with enlarged satellites, cells of late prophase or early metaphase must be used to eliminate confusion with translocations. We encountered three cases of enlarged satellites—one in the D group and two in the G group—and all three resulted in normal infants. Fourthly, that the karyotype may be altered by contamination and/or treatment or other unknown factors. We have observed two such cases where each mother delivered a normal infant. Images PMID:4268389

  14. Diagnostics in critical conditions

    Directory of Open Access Journals (Sweden)

    SadchikovD.V.

    2011-09-01

    Full Text Available The purpose of research: improvement of quality of diagnostics at the patients in a critical condition in intensive care unit. Material and methods. In total have analyzed 1957 medical cards of the patients who have died in ICU»s. At the first stage studied the factors influencing on diagnostics of critically ill patients (medical cards of 1557 patients; at the second stage investigated influence of the diagnostic standards in ICU»s practice on improvement of quality of diag- nostics of critically ill patients (400 medical cards of the patients who have died. Entry criterions were standards and algorithm of diagnostics. Techniques of research: average bed-day in groups, first-day lethality, quantity of the carried out laboratory tests and tool methods of research, level of consciousness of the patients (Glasgow come score, severity of disease by ICU»s patients (APACHE II scores. Results. Quality of diagnostics depend on carried out laboratory tests and tool methods of research, level of consciousness of the patients (Glasgow come score, severity of disease by ICU»s patients (APACHE II score. The conclusion. The laboratory tests and tool methods of research conforming to the standards of diagnostics are necessary for improvement of quality of diagnostics, it is necessary to take into account an altered level of consciousness (Glasgow come score and severity of disease by ICU»s patients (APACHE II scores

  15. Clinical application of fluorescence in situ hybridization for prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Shu-fang JIANG

    2012-07-01

    Full Text Available Objective To establish and optimize the procedures of fluorescence in situ hybridization(FISH), and evaluate its clinical value in rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. Methods Amniotic fluid or fetal blood was sampled by routine invasive procedures. After the amniotic fluid cells or fetal blood cells were separated and sequentially processed with hypotonic solution, fixation solution, smear and high temperature, they were hybridized in situ with two panels of specific fluorescence probes to detect numerical abnormality of chromosomes 21, 18, 13, X, Y. All the samples were also cultured and analyzed for their karyotype by conventional methods. Results When it was used as a diagnostic criterion of chromosomal number that the fluorescence signals were observed in ≥90% cells, GLP 13/GLP 21 probe panel showed 2 green/2 red fluorescence signals and CSP18/CSP X/CSP Y probe panel showed 2 blue/2 yellow (female or 2 blue/1 yellow/1 red fluorescence signals (male under normal condition. The test reports of all 196 cases were sent out in 72-96 hours, and 7 cases of Down syndrome, 2 cases of trisomy 18 and 1 case of sex chromosomal numerical abnormality were detected, which were accordant with karyotype analysis results reported one month later. Conclusions FISH has potential for clinical application, and is applicable to rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. The rapid FISH, together with conventional karyotyping, offer a valuable means for prenatal diagnosis of fetal aneuploidies.

  16. The use of chromosomal microarray for prenatal diagnosis.

    Science.gov (United States)

    Dugoff, Lorraine; Norton, Mary E; Kuller, Jeffrey A

    2016-10-01

    Chromosomal microarray analysis is a high-resolution, whole-genome technique used to identify chromosomal abnormalities, including those detected by conventional cytogenetic techniques, as well as small submicroscopic deletions and duplications referred to as copy number variants. Because chromosomal microarray analysis has a greater resolution than conventional karyotyping, it can detect deletions and duplications down to a 50- to 100-kb level. The purpose of this document is to discuss the technique, advantages, and disadvantages of chromosomal microarray analysis and its indications and limitations. We recommend the following: (1) that chromosomal microarray analysis be offered when genetic analysis is performed in cases with fetal structural anomalies and/or stillbirth and replaces the need for fetal karyotype in these cases (GRADE 1A); (2) that providers discuss the benefits and limitations of chromosomal microarray analysis and conventional karyotype with patients who are considering amniocentesis and chorionic villus sampling (CVS), and that both options should be available to women who choose to undergo diagnostic testing (GRADE 1B); (3) that pre- and posttest counseling should be performed by trained genetic counselors, geneticists, or other providers with expertise in the complexities of interpreting chromosomal microarray analysis results (Best Practice); (4) that patients be informed that chromosomal microarray analysis does not detect every genetic disease or syndrome and specifically does not detect autosomal-recessive disorders associated with single gene point mutations, as well as that chromosomal microarray analysis can detect consanguinity and nonpaternity in some cases (Best Practice); (5) that patients in whom a fetal variant of uncertain significance is detected by prenatal diagnosis receive counseling from experts who have access to databases that provide updated information concerning genotype-phenotype correlations (Best Practice

  17. Barriers to adequate prenatal care utilization in American Samoa.

    Science.gov (United States)

    Hawley, Nicola L; Brown, Carolyn; Nu'usolia, Ofeira; Ah-Ching, John; Muasau-Howard, Bethel; McGarvey, Stephen T

    2014-12-01

    The objective of this study is to describe the utilization of prenatal care in American Samoan women and to identify socio-demographic predictors of inadequate prenatal care utilization. Using data from prenatal clinic records, women (n = 692) were categorized according to the adequacy of prenatal care utilization index as having received adequate plus, adequate, intermediate or inadequate prenatal care during their pregnancy. Categorical socio-demographic predictors of the timing of initiation of prenatal care (week of gestation) and the adequacy of received services were identified using one way analysis of variance and independent samples t tests. Between 2001 and 2008 85.4 % of women received inadequate prenatal care. Parity (P = 0.02), maternal unemployment (P = 0.03), and both parents being unemployed (P = 0.03) were negatively associated with the timing of prenatal care initiation. Giving birth in 2007-2008, after a prenatal care incentive scheme had been introduced in the major hospital, was associated with earlier initiation of prenatal care (20.75 vs. 25.12 weeks; P prenatal care utilization in American Samoa is a major concern. Improving healthcare accessibility will be key in encouraging women to attend prenatal care. The significant improvements in the adequacy of prenatal care seen in 2007-2008 suggest that the prenatal care incentive program implemented in 2006 may be a very positive step toward addressing issues of prenatal care utilization in this population.

  18. Prenatal exposure to ionizing radiations: myths and truths; Exposicion Prenatal a Radiaciones Ionizantes: Mitos y Verdades

    Energy Technology Data Exchange (ETDEWEB)

    Perez, M. R.; Trano, L.; Gisone, P.

    2001-07-01

    In utero exposures to ionising radiation are a very important subject in radiological protection concerning not only the prevention but also the estimation of the associated risks. In these situations the perception of risks by the pregnant woman and the involved professionals could not always be correlated with their objective magnitude. In this communication we describe the effects of prenatal exposure to ionising, the thresholds and their relation with the gestational age, taking into account occupationally exposed women, patients undergoing medical procedures and public members. The dose estimation, the evaluation of the potential associated risks and the relation with the spontaneous incidence of the considered effects are analyzed in the gramework of the basic principles of radiological protection. Most of diagnostic procedures properly done do not imply induction of deterministic effects in embryo/fetus. Therapeutical procedures and accidental overexposures could associated with significant risks of deterministic effects. Childhood cancer induction is an stochastic effect without threshold and every in utero exposure will increase their probability. (Author) 13 refs.

  19. Prenatal and Postnatal Medical Conditions and the Risk of Brain Tumors in Children and Adolescents

    DEFF Research Database (Denmark)

    Tettamanti, Giorgio; Shu, Xiaochen; Adel Fahmideh, Maral

    2017-01-01

    to medical diagnostic radiation, was obtained from CEFALO, a multicenter case-control study performed in Denmark, Norway, Sweden, and Switzerland through face-to-face interview. Eligible cases of childhood and adolescent brain tumors (CABT) were ages 7 to 19 years, diagnosed between January 1, 2004...... and August 31, 2008, and living in the participating countries (n = 352). The cases were matched by age, sex, and region to 646 population-based controls. RESULTS: Prenatal exposure to medical diagnostic radiation and postnatal exposure to X-rays were not associated with CABTs. A higher risk estimate...

  20. Chromosomal microarray analysis in prenatal diagnosis%基于染色体芯片分析的产前诊断

    Institute of Scientific and Technical Information of China (English)

    傅启华; 郑昭璟

    2013-01-01

    Prenatal diagnosis is an effective approach for preventing birth defects and improving population health.Chromosomal karyotyping,sonography,serum screening,fluorescence in situ hybridization,and PCR-based techniques are examples of current prenatal diagnostic technologies.In recent years,the clinical utility of chromosomal microarray analysis (CMA) have been well demonstrated in postnatal genetic diagnosis and it has been recommended as the first tier test for global developmental delay,mental retardation,congenital multiple anomaly,and autism spectrum disorders.CMA is now also being applied to prenatal testing.However,there are still many unresolved issues regarding the proper use of CMA in prenatal testing.The issues include but not limit to the clinical indications for prenatal CMA,interpretation for copy number variations of unknown significance,selection of array platforms,and genetic counseling.These issues should be addressed in order to properly use CMA in prenatal diagnosis.We believe close collaboration from professionals of different disciplines involved in patient care is necessary to help establish the clinical guideline and best practice recommendation for application of CMA in prenatal diagnosis.%产前诊断是预防出生缺陷、提高人口素质的重要举措.目前染色体核型分析、超声检查、血清学筛查、荧光原位杂交及PCR技术等已广泛用于临床产前诊断.近几年来,随着高通量芯片技术在产后诊断中的临床有效性得到广泛证实,染色体芯片分析技术在产前诊断中的应用也得到了普遍关注并已取得良好的效果.但是,染色体芯片分析在产前诊断中的应用还存在许多没有解决的问题,如临床意义未明的拷贝数变异的解释和报告、基因芯片平台的选择、产前诊断遗传咨询等.这些问题的解决需要临床医生、实验室专家以及遗传咨询专家等的共同努力,达成共识并建立具有中国特色的应用指南

  1. Situs anomalies on prenatal MRI.

    Science.gov (United States)

    Nemec, Stefan F; Brugger, Peter C; Nemec, Ursula; Bettelheim, Dieter; Kasprian, Gregor; Amann, Gabriele; Rimoin, David L; Graham, John M; Prayer, Daniela

    2012-04-01

    Situs anomalies refer to an abnormal organ arrangement, which may be associated with severe errors of development. Due regard being given to prenatal magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US), this study sought to demonstrate the in utero visualization of situs anomalies on MRI, compared to US. This retrospective study included 12 fetuses with situs anomalies depicted on fetal MRI using prenatal US as a comparison modality. With an MRI standard protocol, the whole fetus was assessed for anomalies, with regard to the position and morphology of the following structures: heart; venous drainage and aorta; stomach and intestines; liver and gallbladder; and the presence and number of spleens. Situs inversus totalis was found in 3/12 fetuses; situs inversus with levocardia in 1/12 fetuses; situs inversus abdominis in 2/12 fetuses; situs ambiguous with polysplenia in 3/12 fetuses, and with asplenia in 2/12 fetuses; and isolated dextrocardia in 1/12 fetuses. Congenital heart defects (CHDs), vascular anomalies, and intestinal malrotations were the most frequent associated malformations. In 5/12 cases, the US and MRI diagnoses were concordant. Compared to US, in 7/12 cases, additional MRI findings specified the situs anomaly, but CHDs were only partially visualized in six cases. Our initial MRI results demonstrate the visualization of situs anomalies and associated malformations in utero, which may provide important information for perinatal management. Using a standard protocol, MRI may identify additional findings, compared to US, which confirm and specify the situs anomaly, but, with limited MRI visualization of fetal CHDs. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  2. Prenatal ethanol increases sucrose reinforcement, an effect strengthened by postnatal association of ethanol and sucrose.

    Science.gov (United States)

    Culleré, Marcela Elena; Spear, Norman E; Molina, Juan Carlos

    2014-02-01

    Late prenatal exposure to ethanol recruits sensory processing of the drug and of its motivational properties, an experience that leads to heightened ethanol affinity. Recent studies indicate common sensory and neurobiological substrates between this drug and sweet tastants. Using a recently developed operant conditioning technique for infant rats, we examined the effects of prenatal ethanol history upon sucrose self-administration (postnatal days, PDs 14-17). Prior to the last conditioning session, a low (0.5 g/kg) or a high (2.5 g/kg) ethanol dose were paired with sucrose. The intention was to determine if ethanol would inflate or devalue the reinforcing capability of the tastant and if these effects are dependent upon prenatal ethanol history. Male and female pups prenatally exposed to ethanol (2.0 g/kg) responded more when reinforced with sucrose than pups lacking this antenatal experience. Independently of prenatal status, a low ethanol dose (0.5 g/kg) enhanced the reinforcing capability of sucrose while the highest dose (2.5 g/kg) seemed to ameliorate the motivational properties of the tastant. During extinction (PD 18), two factors were critical in determining persistence of responding despite reinforcement omission. Pups prenatally exposed to ethanol that subsequently experienced the low ethanol dose paired with sucrose, showed higher resistance to extinction. The effects here reported were not associated with differential blood alcohol levels across prenatal treatments. These results indicate that fetal ethanol experience promotes affinity for a natural sweet reinforcer and that low doses of ethanol are also capable of enhancing the positive motivational consequences of sucrose when ethanol and sucrose are paired during infancy.

  3. [Prenatal diagnosis. Review, personal and prospective studies].

    Science.gov (United States)

    Engel, E; Empson, J; DeLozier, D; McGee, B; da Costa Woodson, E; Engel-de Montmollin, M; Carter, T; Lorber, C; Cassidy, S B; Millis, J; Heller, R M; Boehm, F; Vanhooydonk, J

    1979-07-07

    instruments is particularly useful in cases where a severe fetal morphologic malformation cannot currently be identified by indirect visualization (ultrasound) or by analysis of cytogenetic or molecular markers. 6. Pathological accumulations of alpha-fetoprotein which are associated with diverse feto-placental abnormalities (particularly open malformations of the neural tube) can be detected in the amniotic fluid and/or maternal blood. In extension of this approach, it is foreseeable that conditions existing prenatally will be diagnosed in a growing number of cases from the study of fetal cells and molecules which can be isolated from the venous blood of pregnant women. This will become feasible as a result of some well-developed techniques which allow separation of fetal from maternal cells and metabolites, and also to some extremely fine analytic techniques, notably examination of the DNA itself by means of restriction enzymes.

  4. Prenatal Inflammation Linked to Autism Risk

    Science.gov (United States)

    ... Thursday, January 24, 2013 Prenatal inflammation linked to autism risk Maternal inflammation during early pregnancy may be related to an increased risk of autism in children, according to new findings supported by ...

  5. Prenatal genotyping of Gaucher disease in Egypt

    African Journals Online (AJOL)

    Somaya Elgawhary

    2013-07-24

    ]. ... and prenatal testing for people with family history of GD should be ... 130 children treated under the project and every year 12–15 new cases are ... or maternal trauma, infection, vaginal bleeding, feto-maternal hemorrhage ...

  6. Applications of molecular diagnostics techniques in clinical microbiology laboratory%分子诊断技术在临床微生物学检验中的应用

    Institute of Scientific and Technical Information of China (English)

    孙长贵; 成军

    2013-01-01

    Applications of molecular diagnostics in clinical microbiology laboratory were introduced in the article,including nucleic acid hybridization,nucleic acid amplification,DNA sequencing,gene chips and mass spectrometry.Molecular diagnostic techniques provide major tools for rapid diagnosis of infectious diseases,molecular epidemiology investigation,rapid identification of microbial pathogens and the study of the pathogenicity and antibiotics resistance.The application of these new technologies,as the complement of traditional culture methods,increases sensitivity,accuracy and diagnostic efficiency of assays.%主要介绍分子诊断技术在临床微生物学检验中的应用,内容包括核酸杂交、核酸扩增、DNA测序、基因芯片和质谱技术.分子诊断技术为感染病的快速诊断、分子流行病学调查、微生物的快速鉴定、病原菌的致病性和抗生素的耐受性研究等提供了重要的检测手段.这些新技术的应用,作为传统培养法的补充,提高了检测的灵敏度、准确性和诊断效率.

  7. Measurement of electron energy distribution from X-rays diagnostics - foil techniques used with the hard X-ray camera on PBX-M

    Energy Technology Data Exchange (ETDEWEB)

    Goeler, S. von; Bell, R.; Bernabei, S.; Davis, W.; Ignat, D. [and others

    1995-12-31

    A half-screen foil technique is used with the Hard X-ray Camera on the PBX-M tokamak to determine the energy distribution of the suprathermal electrons generated during lower hybrid current drive. The ratio of perpendicular to parallel temperature of the suprathermal electrons is deduced from the anisotropy of the bremsstrahlung emission utilizing Abel inversion techniques. Results from lower hybrid current drive discharges are discussed.

  8. Influence of diagnostic quality scanning technique with CR mammography; Influencia de la tecnica de exploracion en la calidad diagnostica de la mamografia ocn CR

    Energy Technology Data Exchange (ETDEWEB)

    Rivas Ballarin, M. A.; Ruiz Manzano, P.; Ortega Pardina, P.; Laliena Bielsa, V.; Calvo Carrillo, S.; Garcia Romero, A.; Millan Cebrian, E.

    2013-07-01

    Image quality criteria laid down in the Spanish Protocol of Control of quality in Radiology (PECCR) to a team of mammography with CR imaging system are applied in this work and evaluated the dosimetry impact implied by the modification of the technique of exposure required for the fulfilment of those criteria. Is also analyzes the impact on the image quality of the new radiographic technique, evaluated by three radiologists. (Author)

  9. DIAGNOSTICO PRENATAL DE SITUS INVERSUS TOTALIS

    OpenAIRE

    Paublo M,Mario; Bustos V.,Juan Carlos; Ramírez H,Pedro

    2002-01-01

    Se presenta un caso clínico de diagnostico prenatal por ultrasonografía de Situs Inversus completo en la Unidad de ultrasonografía del Hospital San Juan de Dios con su confirmación post natal por radiología y ultrasonografía. Es de notar la baja incidencia de esta patología y la importancia del diagnostico prenatal por las posibles múltiples malformaciones asociadas.

  10. Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome.

    Science.gov (United States)

    Dave, Usha; Shetty, Dhanlaxmi

    2014-02-01

    Phenotypic variability and the lack of a diagnostic marker have complicated the rapid diagnosis and genetic counseling for Cornelia de Lange syndrome (CdLS). The clinical features of CdLS are striking and easily recognizable by characteristic facial dysmorphism, upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities with severe mental retardation. The molecular diagnosis is essential for predicting prognosis and genetic counseling in the affected family, especially while planning the next pregnancy. We report here from India six cases of CdLS and how precise mutational screening in two cases helped in prenatal diagnosis and proved significant in prevention of recurrence in the affected family.

  11. Prenatal ultrasonographic findings of cloacal anomaly

    Energy Technology Data Exchange (ETDEWEB)

    Song, Mi Jin [Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2002-09-15

    To evaluate the ultrasonographic characteristic of a rare malformation comples, Cloacal anomaly on prenatal ultrasonography. From March 1991 to July 2001, eight cases with the persistent cloaca (4 cases in female and 1 case in male) and cloacal exstrophy (3 cases) diagnosed by prenatal ultrasound examination were included, and all of them were pathologically confirmed by autopsy. One radiologist retrospectively analyzed the prenatal sonographic images, including the urinary bladder, kidney, pelvic cyst, abdominal wall defect and amount of amniotic fluid. The ultrasonographic diagnosis was established at 21.8 {+-} 7.8 weeks of gestation. The prenatal ultrasonographic findings of the persistent cloaca were absent bladder (n=2), distended bladder (n=2) and small thick bladder (n=1). Sonography of the kidney showed normal (n=2), hydronephrosis (n=1), dysplasia (n=1) and unilateral hydronephrosis with absent contralateral kidney (n=1). Four fetuses showed septated pelvic cyst; three fetuses, oligohydramnios. The prenatal ultrasonographic findings of cloacal exstrophy included absent bladder (n=3), normal kidney (n=1), hydronephrosis (n=1) and absent kidney (n=1). All fetuses with cloacal exstrophy had abdominal wall defect while two of them had oligohydramnios. A prenatal diagnosis of persistent cloaca can be confidently made when there is septated pelvic cyst combined oligohydramnios, sediments within the cyst and intraluminal calcifications. Cloacal exstrophy should be included in diagnosis if there is a low abdominal wall defect with absent urinary bladder.

  12. Family structure and use of prenatal care.

    Science.gov (United States)

    Alves, Elisabete; Silva, Susana; Martins, Simone; Barros, Henrique

    2015-06-01

    This cross-sectional study intended to assess the use of prenatal care according to the family structure in a population with free universal access to prenatal care. In 2005-2006, the Portuguese birth cohort was assembled by the recruitment of puerperae at public maternity wards in Porto, Portugal. In the current analysis, 7,211 were included. Data on socio-demographic characteristics, obstetric history, and prenatal care were self-reported. Single mothers were considered as those whose household composition did not include a partner at delivery. Approximately 6% of the puerperae were single mothers. These women were more likely to have an unplanned pregnancy (OR = 6.30; 95%CI: 4.94-8.04), an inadequate prenatal care (OR = 2.30; 95%CI: 1.32-4.02), and to miss the ultrasound and the intake of folic acid supplements during the first trimester of pregnancy (OR = 1.71; 95%CI: 1.30-2.27; and OR = 1.67; 95%CI: 1.32-2.13, respectively). The adequacy and use of prenatal care was less frequent in single mothers. Educational interventions should reinforce the use and early initiation of prenatal care.

  13. Family structure and use of prenatal care

    Directory of Open Access Journals (Sweden)

    Elisabete Alves

    2015-06-01

    Full Text Available This cross-sectional study intended to assess the use of prenatal care according to the family structure in a population with free universal access to prenatal care. In 2005-2006, the Portuguese birth cohort was assembled by the recruitment of puerperae at public maternity wards in Porto, Portugal. In the current analysis, 7,211 were included. Data on socio-demographic characteristics, obstetric history, and prenatal care were self-reported. Single mothers were considered as those whose household composition did not include a partner at delivery. Approximately 6% of the puerperae were single mothers. These women were more likely to have an unplanned pregnancy (OR = 6.30; 95%CI: 4.94-8.04, an inadequate prenatal care (OR = 2.30; 95%CI: 1.32-4.02, and to miss the ultrasound and the intake of folic acid supplements during the first trimester of pregnancy (OR = 1.71; 95%CI: 1.30-2.27; and OR = 1.67; 95%CI: 1.32-2.13, respectively. The adequacy and use of prenatal care was less frequent in single mothers. Educational interventions should reinforce the use and early initiation of prenatal care.

  14. Prenatal diagnosis of 45,X/46,XX

    Energy Technology Data Exchange (ETDEWEB)

    Hsu, L.Y.F. [New York Univ. School of Medicine, New York, NY (United States)

    1996-03-01

    I read with great interest the paper on {open_quotes}Prenatal Diagnosis of 45,X/46,XX mosaicism and 45,X: Implications for Postnatal Outcome{close_quotes} by Koeberl et al. They reported their experience with 12 prenatally diagnosed cases of 45,X/46,XX mosaicism and made a clinical comparison between those 12 cases and their own 41 postnatally diagnosed cases of 45,X/46,XX mosaicism. As expected, they found an overall milder phenotypic manifestation in the prenatal cases than in the postnatal ones. These authors report a lack of previous prognostic information on this type of prenatally diagnosis of mosaicism and offer their findings to fill this need. However, considerable information on this topic has been published. There have been >200 prenatally diagnosed cases of 45,X/46,XX. According to my data on 189 cases with a prenatal diagnosis of 45,X/46,XX mosaicism (Hsu 1992), there are 114 cases with available information on phenotypic outcome. Of these, 12 (10.5%) were reported to have some features of Turner syndrome, 4 had other anomalies probably not related to Turner syndrome, and 2 resulted in stillbirth. The overall rate for an abnormal phenotype in this category was thus 16/114 (14.03%). However, we must realize that, even in patients with a nonmosaic 45,X complement, the major features of Turner syndrome, such as short stature and sexual infantilism, are manifested only later in childhood or in adolescence. 3 refs.

  15. Barriers to adequate prenatal care utilization in American Samoa

    Science.gov (United States)

    Hawley, Nicola L; Brown, Carolyn; Nu’usolia, Ofeira; Ah-Ching, John; Muasau-Howard, Bethel; McGarvey, Stephen T

    2013-01-01

    Objective To describe the utilization of prenatal care in American Samoan women and to identify socio-demographic predictors of inadequate prenatal care utilization. Methods Using data from prenatal clinic records, women (n=692) were categorized according to the Adequacy of Prenatal Care Utilization Index as having received adequate plus, adequate, intermediate or inadequate prenatal care during their pregnancy. Categorical socio-demographic predictors of the timing of initiation of prenatal care (week of gestation) and the adequacy of received services were identified using one way Analysis of Variance (ANOVA) and independent samples t-tests. Results Between 2001 and 2008 85.4% of women received inadequate prenatal care. Parity (P=0.02), maternal unemployment (P=0.03), and both parents being unemployed (P=0.03) were negatively associated with the timing of prenatal care initation. Giving birth in 2007–2008, after a prenatal care incentive scheme had been introduced in the major hospital, was associated with earlier initiation of prenatal care (20.75 versus 25.12 weeks; Pprenatal care utilization in American Samoa is a major concern. Improving healthcare accessibility will be key in encouraging women to attend prenatal care. The significant improvements in the adequacy of prenatal care seen in 2007–2008 suggest that the prenatal care incentive program implemented in 2006 may be a very positive step toward addressing issues of prenatal care utilization in this population. PMID:24045912

  16. Pitfalls in diagnostic radiology

    Energy Technology Data Exchange (ETDEWEB)

    Peh, Wilfred C.G. (ed.) [Khoo Teck Puat Hospital (Singapore). Dept. of Diagnostic Radiology

    2015-04-01

    Only textbook to focus primarily on the topic of pitfalls in diagnostic radiology. Highlights the pitfalls in a comprehensive and systematic manner. Written by experts in different imaging modalities and subspecialties from reputable centers across the world. The practice of diagnostic radiology has become increasingly complex, with the use of numerous imaging modalities and division into many subspecialty areas. It is becoming ever more difficult for subspecialist radiologists, general radiologists, and residents to keep up with the advances that are occurring year on year, and this is particularly true for less familiar topics. Failure to appreciate imaging pitfalls often leads to diagnostic error and misinterpretation, and potential medicolegal problems. Diagnostic errors may be due to various factors such as inadequate imaging technique, imaging artifacts, failure to recognize normal structures or variants, lack of correlation with clinical and other imaging findings, and poor training or inexperience. Many, if not most, of these factors are potentially recognizable, preventable, or correctable. This textbook, written by experts from reputable centers across the world, systematically and comprehensively highlights the pitfalls that may occur in diagnostic radiology. Both pitfalls specific to different modalities and techniques and those specific to particular organ systems are described with the help of numerous high-quality illustrations. Recognition of these pitfalls is crucial in helping the practicing radiologist to achieve a more accurate diagnosis.

  17. Establishment of Diagnostic Assay for Hantavirus with Microarray Techniques%基因芯片技术检测肾综合征出血热病毒核酸的研究

    Institute of Scientific and Technical Information of China (English)

    朱进; 陶开华; 操敏; 张云; 李越希; 张锦海; 唐家琪

    2004-01-01

    To establish a rapid, sensitive and specific diagnostic assay for Hantavirus with microarray techniques, specific primers and probes were designed according to the conservative and specific DNA sequence of 76-118 strain and R22 strain. The probes were spotted on glass slides to form microarrays.The Cy3-1abled single stranded DNA fragments prepared by dissymmetical PCR were hybridized with the probes on the glass slides. The microarrays were scanned and analyzed with a scanner. The results showed that the DNA microarray could detect the different typed DNA of HTN and SEO with adequate specificity and sensitivity. The developed DNA microarray and techniques might be a very useful method for diagnosis and prevention, and could be widely applied in specific pathogens detection ofinfectious diseases such as hemorrhagic fever with renal syndrome.

  18. Prenatal diagnosis of congenital fetal heart abnormalities and clinical analysis

    Institute of Scientific and Technical Information of China (English)

    LI Hui; WEI Jun; MA Ying; SHANG Tao

    2005-01-01

    Objective: To study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography. Methods: Nine hundred and eighty-two high-risk pregnancies for fetal CHD were included in this study, the fetal heart was scanned with the five transverse planes technique of fetal echocardiography described by yagel, autopsy was conducted when pregnancy was terminated. Blood from fetal heart was collected for fetal chromosome analysis. A close follow-up was given for normal fetal heart pregnancies and neconatal echocardiography was performed to check the accuracy of prenatal diagnosis. Results: (1) Forty-six cases(4.68%) were found to have fetal heart abnormalities in this study, 69.56% of them were diagnosed by single four-chamber view, another 30.43% fetal CHD were found by combining other views; (2) Fotry-one parents of prenatal fetuses with CHD chose to terminate pregnancy, thirty-two of them gave consent to conduct autopsy, 93.75% of which yielded unanimous conclusion between prenatal fetal echocardiography and autopsy; (3) Thirty-two of 46 cases underwent fetal chromosome analysis, 8 cases (25%) were found to have abnormal chromosome; (4) Five cases were found to have right ventricle and atrium a little bigger than those on the left side, with the unequal condition being the same after birth, but there were no clinical manifestations and they are healthy for the time being; (5) Nine hundred and thirty-six cases were not found with abnormality in this study, but one case was diagnosed with ventricular septal defect after birth, one case was diagnosed with patent ductus arteriosus, one case had atrial septal defect after birth. Conclusions: (1) The detected CHD rate was 4.68% by screening fetal heart with five transverse planes according to Yagel's description of high risk population basis for CHD. The coinciding rate of prenatal diagnosis and autopsy was 93.75%; (2) The sensitivity of detecting fetal heart

  19. Current status of prenatal diagnosis in Cuba: causes of low prevalence of Down syndrome.

    Science.gov (United States)

    Méndez-Rosado, L A; Hechavarría-Estenoz, D; de la Torre, M E; Pimentel-Benitez, H; Hernández-Gil, J; Perez, B; Barrios-Martínez, A; Morales-Rodriguez, E; Soriano-Torres, M; Garcia, M; Suarez-Mayedo, U; Cedeño-Aparicio, N; Blanco, I; Díaz-Véliz, P; Vidal-Hernández, B; Mitjans-Torres, M; Miñoso, S; Alvarez-Espinosa, D; Reyes-Hernández, E; Angulo-Cebada, E; Torres-Palacios, M; Lozano-Lezcano, L; Lima-Rodriguez, U; Mayeta, M; Noblet, M; Benítez, Y; Lardoeyt-Ferrer, R; Yosela-Martin, S; Carbonell, P; Pérez-Ramos, M; de León, N; Perez, M; Carbonell, J

    2014-11-01

    To analyze trends in cytogenetic prenatal diagnosis in Cuba and to analyze possible causes leading to a low Down syndrome prevalence in a country where the triple test is not available. An analysis of the Cuban program in prenatal cytogenetic diagnosis from 1984 to 2012 was conducted. Results are described, with particular emphasis on indications, abnormal results, types of invasive procedures, and terminations of pregnancy. Cytogenetic prenatal diagnostic analyses (n = 75,095) were conducted; maternal age was the indication for 77.9% of the amniocenteses and chorionic villus samplings. The detection rate of chromosomally abnormal pregnancies was 2.3% for maternal age and increased to 8-9% for other indications. When a chromosomal abnormality was identified, 88.5% terminated the pregnancy. In 2002, the live birth prevalence of Down syndrome was 8.4 per 10,000 live births, and in 2012, 7 per 10,000. Prenatal diagnosis in Cuba has contributed to a significant reduction in chromosomal aberrations. The impact increased because of the demographic trends of the population, the high index of terminations of pregnancy, and the establishment of a network of cytogenetic laboratories throughout Cuba. © 2014 John Wiley & Sons, Ltd.

  20. Sex differentiation disorders (SDD) prenatal sonographic diagnosis, genetic and hormonal work-up.

    Science.gov (United States)

    Katorza, Eldad; Pinhas-Hamiel, Orit; Mazkereth, Ram; Gilboa, Yinon; Achiron, Reuven

    2009-09-01

    Gender is determined by the genetic, gonadal and hormonal/ phenotypic sex. Genetic sex is determined at conception. The establishment of the gonadal sex (ovary/testis) and the phenotypic sex (external and internal genitalia) is a complicated multistep process which is determined during fetal life mainly during the first trimester. Recently more genes have been found to be involved in this process. Prenatal diagnosis of fetal gender can be made using ultrasound technology, genetic and hormonal examinations. Nowadays using a vaginal and abdominal transducer for US examination recognition of external and internal genitalia of both genders is possible. The determination of gender during fetal life is important not only as a matter of curiosity; in some cases of ambiguity (for example congenital adrenal hyperplasia) prenatal treatment can change the natural history of the disease. Prenatal diagnosis can also subtype the ambiguity, and its severity can be established. In this review we describe our experience in prenatal diagnosis and establishment of the fetal gender, the subtypes of ambiguity and our suggestion for the process of diagnostic work-up.

  1. The theological and legal approach of prenatal and preimplantation genetic control

    Directory of Open Access Journals (Sweden)

    George Katsimigas

    2012-04-01

    Full Text Available Aim: The investigation of the theological and legal questions derived from the application of prenatal and preimplantation genetic control on human embryos. Moreover, the review of the European and Greek legislation with regard to the prenatal and preimplantation control. Material and Method: A literature review based on both review and research literature, conducted during the period of 1984-2009, derived from MEDLINE, SCOPUS and ΙΑΤΡΟΤΕΚ databases using as key words Prenatal diagnosis , Bioethics, Orthodox ethics, preimplantation genetic diagnosis, Legislation. Results: The orthodox theology adopts a negative view for the abortion of fetus, which it is considered murder in any stage of growth. The legal approach brought two basic questions a the securing of consent from the examined individual and b the constitutional protection of fetus' life. Conclusions: The orthodox theology, through their teaching places the moral criteria for facing the moral questions derived from the application of prenatal and preimplantation genetic control on human embryos. Also, the Greek citizens need to be informed for all the diagnostic examinations on embryos that should be provided by all public health organizations.

  2. Application value of OSCAR syetem in prenatal screen of chromosome disease and severeα-thalassemia

    Institute of Scientific and Technical Information of China (English)

    Yi Ling; Song Jin; Chun-Xia Hu; Rui-XiANan; Fu Huo; Ning Zhang; Tu-Zhao Xie; Qun-Hua Shi

    2016-01-01

    Objective:To study the value of combining serum and ultrasound nuchal translucency thickness (NT) measurement for One-stop Clinic of Risk Assessment (OSCAR) in Hainan Province in prenatal diagnose of chromosomal disorders and thalassemia diagnosis.Methods:The patients of 11-13+ 6 weeks in our hospital for regularly standardized checking were selected for OSCAR prenatal screening, the patients of the Down's and severe thalassemia at high risk were selected for prenatal diagnosis of fetal karyotype and thalassemia gene checking, then pregnancy outcomes was followed up. Rate of OSCAR in fetal chromosomal disease and the diagnostic value in fetal thalassemia was detected.Results:The positive rate of OSCAR Down's screening was 9.8%, the detection rate was 90%. The incidence of chromosomal abnormalities and severe alpha thalassemia were increased as NT thickening and tricuspid or venous ductus regurgitation.Conclusions: OSCAR Down's screening system for early pregnancy is noninvasive, affordable and it is preferred prenatal screening through comprehensive evaluation.

  3. A Dual-Line Detection Rayleigh Scattering Diagnostic Technique for the Combustion of Hydrocarbon Fuels and Filtered UV Rayleigh Scattering for Gas Velocity Measurements

    Science.gov (United States)

    Otugen, M. Volkan

    1997-01-01

    Non-intrusive techniques for the dynamic measurement of gas flow properties such as density, temperature and velocity, are needed in the research leading to the development of new generation high-speed aircraft. Accurate velocity, temperature and density data obtained in ground testing and in-flight measurements can help understand the flow physics leading to transition and turbulence in supersonic, high-altitude flight. Such non-intrusive measurement techniques can also be used to study combustion processes of hydrocarbon fuels in aircraft engines. Reliable, time and space resolved temperature measurements in various combustor configurations can lead to a better understanding of high temperature chemical reaction dynamics thus leading to improved modeling and better prediction of such flows. In view of this, a research program was initiated at Polytechnic University's Aerodynamics Laboratory with support from NASA Lewis Research Center through grants NAG3-1301 and NAG3-1690. The overall objective of this program has been to develop laser-based, non-contact, space- and time-resolved temperature and velocity measurement techniques. In the initial phase of the program a ND:YAG laser-based dual-line Rayleigh scattering technique was developed and tested for the accurate measurement of gas temperature in the presence of background laser glare. Effort was next directed towards the development of a filtered, spectrally-resolved Rayleigh/Mie scattering technique with the objective of developing an interferometric method for time-frozen velocity measurements in high-speed flows utilizing the uv line of an ND:YAG laser and an appropriate molecular absorption filter. This effort included both a search for an appropriate filter material for the 266 nm laser line and the development and testing of several image processing techniques for the fast processing of Fabry-Perot images for velocity and temperature information. Finally, work was also carried out for the development of

  4. Development of new source diagnostic methods and variance reduction techniques for Monte Carlo eigenvalue problems with a focus on high dominance ratio problems

    Science.gov (United States)

    Wenner, Michael T.

    Obtaining the solution to the linear Boltzmann equation is often is often a daunting task. The time-independent form is an equation of six independent variables which cannot be solved analytically in all but some special problems. Instead, numerical approaches have been devised. This work focuses on improving Monte Carlo methods for its solution in eigenvalue form. First, a statistical method of stationarity detection called the KPSS test adapted as a Monte Carlo eigenvalue source convergence test. The KPSS test analyzes the source center of mass series which was chosen since it should be indicative of overall source behavior, and is physically easy to understand. A source center of mass plot alone serves as a good visual source convergence diagnostic. The KPSS test and three different information theoretic diagnostics were implemented into the well known KENOV.a code inside of the SCALE (version 5) code package from Oak Ridge National Laboratory and compared through analysis of a simple problem and several difficult source convergence benchmarks. Results showed that the KPSS test can add to the overall confidence by identifying more problematic simulations than without its usage. Not only this, the source center of mass information on hand visually aids in the understanding of the problem physics. The second major focus of this dissertation concerned variance reduction methodologies for Monte Carlo eigenvalue problems. The CADIS methodology, based on importance sampling, was adapted to the eigenvalue problems. It was shown that the straight adaption of importance sampling can provide a significant variance reduction in determination of keff (in cases studied up to 30%?). A modified version of this methodology was developed which utilizes independent deterministic importance simulations. In this new methodology, each particle is simulated multiple times, once to every other discretized source region utilizing the importance for that region only. Since each particle

  5. [Evaluation of the diagnostic usefulness of CA125 immunoscintigraphy for ovarian carcinoma follow-up after treatment: contribution of this technique in Grenoble University Medical Center].

    Science.gov (United States)

    Vuillez, J P; Levrot, E; Mousseau, M; Buffaz, P D; Bolla, M; Payan, R; Comet, M; Schaerer, R

    1997-11-01

    Immunoscintigraphy using indium-111-labeled OC125 monoclonal antibody F(ab')2 fragments is a technic complementary of morphological imaging (i.e. ultrasonography and computed tomography). It allows early detection of recurrences of ovarian carcinomas. We performed immunoscintigraphy 30 times in 26 patients who previously underwent radical treatment for ovarian carcinoma, and were suspected to have a recurrence. Our purposes were appreciation of diagnostic accuracy of the method, and above all its impact on clinical decisions and evolution of the patients. There were, after reevaluation of the results, 18 true positives, 7 true negatives, 3 false negatives and 2 false positive cases (sensitivity 85.7%, specificity 77.8%). Bayesian analysis showed positive and negative predictive values of 86% and 87% when probability of recurrence a priori was 50%, and 80% and 58% when probability of recurrence a priori was 70%. The result of immunoscintigraphy contributed to clinical decisions in 24 cases out of 30, and led to a correct decision for the patient in 21 cases. Conversely, for the 6 cases in which the result has not been considered, to take this result into account would have been beneficial in 4 cases, but harmful in 2. Finally, survival tended to be longer when immunoscintigraphy was negative, which could be associated with a better prognosis. We conclude that OC125-immunoscintigraphy may be useful for ovarian carcinoma follow-up and may contribute to a better therapeutic strategy.

  6. Diagnostic testing for Giardia infections.

    Science.gov (United States)

    Heyworth, Martin F

    2014-03-01

    The traditional method for diagnosing Giardia infections involves microscopic examination of faecal specimens for Giardia cysts. This method is subjective and relies on observer experience. From the 1980s onwards, objective techniques have been developed for diagnosing Giardia infections, and are superseding diagnostic techniques reliant on microscopy. Detection of Giardia antigen(s) by immunoassay is the basis of commercially available diagnostic kits. Various nucleic acid amplification techniques (NAATs) can demonstrate DNA of Giardia intestinalis, and have the potential to become standard approaches for diagnosing Giardia infections. Of such techniques, methods involving either fluorescent microspheres (Luminex) or isothermal amplification of DNA (loop-mediated isothermal amplification; LAMP) are especially promising.

  7. The prenatal roots of music

    Directory of Open Access Journals (Sweden)

    David Ernest Teie

    2016-08-01

    Full Text Available Although the idea that pulse in music may be related to human pulse is ancient and has recently been promoted by researchers (Parncutt, 2006; Snowdon & Teie, 2010, there has been no ordered delineation of the characteristics of music that are based on the sounds of the womb. I describe features of music that are based on sounds that are present in the womb: tempo of pulse (pulse is understood as the regular, underlying beat that defines the meter, amplitude contour of pulse, meter, musical notes, melodic frequency range, continuity, syllabic contour, melodic rhythm, melodic accents, phrase length, and phrase contour. There are a number of features of prenatal development that allow for the formation of long-term memories of the sounds of the womb in the areas of the brain that are responsible for emotions. Taken together, these features and the similarities between the sounds of the womb and the elemental building blocks of music allow for a postulation that the fetal acoustic environment may provide the bases for the fundamental musical elements that are found in the music of all cultures. This hypothesis is supported by a one-to-one matching of the universal features of music with the sounds of the womb: 1 all of the regularly heard sounds that are present in the fetal environment are represented in the music of every culture, and 2 all of the features of music that are present in the music of all cultures can be traced to the fetal environment.

  8. Globalization of DNA-based prenatal diagnosis for recessive dystrophic epidermolysis bullosa.

    Science.gov (United States)

    Wessagowit, V; Chunharas, A; Wattanasirichaigoon, D; McGrath, J A

    2007-11-01

    Globalization of economies and improvements in international telecommunications has led to increased demand for better access to the latest developments in healthcare, wherever they may be available. In this report, we describe the first case from Thailand of DNA-based prenatal testing of a mother at risk for recurrence of severe recessive dystrophic epidermolysis bullosa (RDEB), whose affected child had died in early childhood. In the absence of previous access to prenatal diagnostic tests, the mother had undergone several terminations for fear of having another affected child. To prevent this happening again, DNA from the mother and her consanguineous partner was sent from Bangkok to a specialist laboratory at St John's Institute of Dermatology in London and screened for pathogenic mutations in the COL7A1 gene: both individuals were shown to be heterozygous carriers of a splice-site mutation, c.2440G --> C. In a subsequent pregnancy, amniocentesis was performed at 18 weeks' gestation in Bangkok, and fetal DNA was extracted and sent to London for analysis. Restriction endonuclease digestion of the amplified fetal DNA revealed the wild-type COL7A1 sequence only, and 5 months later, a clinically unaffected boy was born. This case represents the first example of DNA-based prenatal diagnosis for RDEB in Thailand and illustrates the benefits for patients in establishing international links with diagnostic centres with technological expertise that is not widely available in certain countries.

  9. Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

    Directory of Open Access Journals (Sweden)

    Srebniak Malgorzata I

    2012-03-01

    Full Text Available Abstract Background We have investigated whether replacing conventional karyotyping by SNP array analysis in cases of foetal ultrasound abnormalities would increase the diagnostic yield and speed of prenatal diagnosis in clinical practice. Findings/results From May 2009 till June 2011 we performed HumanCytoSNP-12 array (HCS (http://www.Illumina.com analysis in 207 cases of foetal structural abnormalities. HCS allows detecting unbalanced genomic abnormalities with a resolution of about 150/200 kb. All cases were selected by a clinical geneticist after excluding the most common aneuploidies by RAD (rapid aneuploidy detection. Pre-test genetic counselling was offered in all cases. In 24/207 (11,6% foetuses a clinically relevant genetic abnormality was detected. Only 8/24 abnormalities would have been detected if only routine karyotyping was performed. Submicroscopic abnormalities were found in 16/207 (7,7% cases. The array results were achieved within 1-2 weeks after amniocentesis. Conclusions Prenatal SNP array testing is faster than karyotyping and allows detecting much smaller aberrations (~0.15 Mb in addition to the microscopic unbalanced chromosome abnormalities detectable with karyotyping (~ > 5 Mb. Since karyotyping would have missed 66% (16/24 of genomic abnormalities in our cohort, we propose to perform genomic high resolution array testing assisted by pre-test counselling as a primary prenatal diagnostic test in cases of foetal ultrasound abnormalities.

  10. Diagnostic Sensitivity of Multidetector-Row Spiral Computed Tomography Angiography in the Evaluation of Type-II Endoleaks and their Source: Comparison between Axial Scans and Reformatting Techniques

    Energy Technology Data Exchange (ETDEWEB)

    Saba, L.; Pascalis, L.; Montisci, R.; Sanfilippo, R.; Mallarini, G. (Depts. of Radiology and Vascular Surgery, Azienda Ospedaliero-Universitaria di Cagliari, Polo di Monserrato, Monserrato, Cagliari (Italy))

    2008-07-15

    Background: After endovascular stent-graft placement, several complications may occur. Retrograde filling of the aneurysm (type-II endoleak) is the most common. Purpose: To evaluate the accuracy, image quality, and interobserver agreement of multidetector-row spiral computed tomography angiography (MDCTA) in the diagnosis of type-II endoleak, by using various types of reformatting techniques in comparison to regular axial images. Material and Methods: Twenty-four patients who had had endovascular repair of an infrarenal abdominal aortic aneurysm with stent graft were retrospectively studied. In 12 of 24 patients, a type-II endoleak was found. CT scans were obtained after intravenous administration of 130 ml of nonionic contrast material using a 4-6-ml/s flow rate. All patients were investigated with axial scans, multiplanar reconstruction (MPR), maximum intensity projection (MIP), shaded-surface display (SSD), and volume-rendering (VR) techniques. For each patient and for each reconstruction method, the image quality of the scans was scored as 0 for bad quality, 1 for poor quality, 2 for good quality, and 3 for excellent quality images. Two radiologists reviewed the CT images independently. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated for each reconstruction method, with the axial images as the reference method. Interobserver agreement and kappa value were also recorded. Results: MPR showed the highest sensitivity (83% and 67% for observers 1 and 2, respectively), PPV (91% and 80% for observers 1 and 2, respectively), and NPV (85% and 71% for observers 1 and 2, respectively), whereas VR showed the highest specificity (92% for both observer 1 and 2). Conclusion: Reformatting techniques provide good-quality images; nevertheless, their efficacy in the study of type-II endoleak was found to be suboptimal in comparison to regular axial images. The MPR technique is probably the best choice in conjunction

  11. Astrovirus Diagnostics

    Science.gov (United States)

    Pérot, Philippe; Lecuit, Marc; Eloit, Marc

    2017-01-01

    Various methods exist to detect an astrovirus infection. Current methods include electron microscopy (EM), cell culture, immunoassays, polymerase chain reaction (PCR) and various other molecular approaches that can be applied in the context of diagnostic or in surveillance studies. With the advent of metagenomics, novel human astrovirus (HAstV) strains have been found in immunocompromised individuals in association with central nervous system (CNS) infections. This work reviews the past and current methods for astrovirus detection and their uses in both research laboratories and for medical diagnostic purposes. PMID:28085120

  12. Beamlet laser diagnostics

    Energy Technology Data Exchange (ETDEWEB)

    Burkhart, S.C.; Behrendt, W.C.; Smith, I.

    1996-06-01

    Beamlet is instrumented extensively to monitor the performance of the overall laser system and many of its subsystems. Beam diagnostics, installed in key locations, are used to fully characterize the beam during its propagation through the multipass cavity and the laser`s output section. This article describes the diagnostics stations located on Beamlet and discusses the design, calibration, and performance of the Beamlet calorimeters. The authors used Nova`s diagnostics packages to develop the Beamlet design to determine beam energy, spatial profile, temporal profile, and other beam parameters. Technologic improvements within the last several years in controls, charge-coupled device (CCD) cameras, and fast oscilloscopes have allowed the authors to obtain more accurate measurements on the Beamlet laser system. They briefly cover some of these techniques, including a description of their LabVIEW based data acquisition system.

  13. Development of a Microsphere-based Immunoassay for Serological Detection of African Horse Sickness Virus and Comparison with Other Diagnostic Techniques.

    Science.gov (United States)

    Sánchez-Matamoros, A; Beck, C; Kukielka, D; Lecollinet, S; Blaise-Boisseau, S; Garnier, A; Rueda, P; Zientara, S; Sánchez-Vizcaíno, J M

    2016-12-01

    African horse sickness (AHS) is a viral disease that causes high morbidity and mortality rates in susceptible Equidae and therefore significant economic losses. More rapid, sensitive and specific assays are required by diagnostic laboratories to support effective surveillance programmes. A novel microsphere-based immunoassay (Luminex assay) in which beads are coated with recombinant AHS virus (AHSV) structural protein 7 (VP7) has been developed for serological detection of antibodies against VP7 of any AHSV serotype. The performance of this assay was compared with that of a commercial enzyme-linked immunosorbent assay (ELISA) and commercial lateral flow assay (LFA) on a large panel of serum samples from uninfected horses (n = 92), from a reference library of all AHSV serotypes (n = 9), on samples from horses experimentally infected with AHSV (n = 114), and on samples from West African horses suspected of having AHS (n = 85). The Luminex assay gave the same negative results as ELISA when used to test the samples from uninfected horses. Both assays detected antibodies to all nine AHSV serotypes. In contrast, the Luminex assay detected a higher rate of anti-VP7 positivity in the West African field samples than did ELISA or LFA. The Luminex assay detected anti-VP7 positivity in experimentally infected horses at 7 days post-infection, compared to 13 days for ELISA. This novel immunoassay provides a platform for developing multiplex assays, in which the presence of antibodies against multiple ASHV antigens can be detected simultaneously. This would be useful for serotyping or for differentiating infected from vaccinated animals.

  14. Disorganized Cortical Patches Suggest Prenatal Origin of Autism

    Science.gov (United States)

    ... 2014 Disorganized cortical patches suggest prenatal origin of autism NIH-funded study shows disrupted cell layering process ... study suggests that brain irregularities in children with autism can be traced back to prenatal development. “While ...

  15. Prenatal Vitamins: Why They Matter, How to Choose

    Science.gov (United States)

    Healthy Lifestyle Pregnancy week by week Wonder if you need to take prenatal vitamins? Which brand is best? Or what ... 2016 Original article: http://www.mayoclinic.org/healthy-lifestyle/pregnancy-week-by-week/in-depth/prenatal-vitamins/art- ...

  16. Informed consent: attitudes, knowledge and information concerning prenatal examination

    DEFF Research Database (Denmark)

    Dahl, Katja; Kesmodel, Ulrik; hvidman, lone

    2006-01-01

    Background: Providing women with information enabling an informed consent to prenatal examinations has been widely recommended. Objective: The primary purpose of this review is to summarise current knowledge of the pregnant woman's expectations and attitudes concerning prenatal examinations, as w...

  17. Callosal agenesis followed postnatally after prenatal diagnosis.

    Science.gov (United States)

    Imataka, George; Nakagawa, Eiji; Kuwashima, Shigeko; Watanabe, Hiroshi; Yamanouchi, Hideo; Arisaka, Osamu

    2006-09-01

    Callosal agenesis is a congenital brain anomaly caused by embryonal hypogenesis of the corpus callosum. Concerning the neurological prognosis, epilepsy and motor disturbance are noted in some cases, while many cases are asymptomatic and the prognosis is good. We report a fetus tentatively diagnosed with hydrocephaly on prenatal echo-encephalography, which was performed without adequate explanation to and understanding of the parents. The parents had not expected an abnormality before the screening, and were subsequently not psychologically prepared for the discovery of the congenital brain anomaly on imaging. Moreover, they received no guidance on how to deal with any possible abnormalities. The pregnant mother was referred to our hospital. Prenatal MRI was performed after informed consent was obtained, and the fetus was diagnosed with callosal agenesis. The patient was followed for 5 years, and neurological development was normal. However, the parents have remained anxious while raising the child. Thus, the prenatal diagnosis of callosal agenesis in this case caused unnecessary mental burden to the parents. Here, we report the course of the case, and discuss the way prenatal ultrasonography should be used as a prenatal screening method, and the importance of counseling before the test.

  18. Prenatal Testosterone and Preschool Disruptive Behavior Disorders.

    Science.gov (United States)

    Roberts, Bethan A; Martel, Michelle M

    2013-11-01

    Disruptive Behaviors Disorders (DBD), including Oppositional-Defiant Disorder (ODD) and Attention-Deficit/Hyperactivity Disorder (ADHD), are fairly common and highly impairing childhood behavior disorders that can be diagnosed as early as preschool. Prenatal exposure to testosterone may be particularly relevant to these early-emerging DBDs that exhibit a sex-biased prevalence rate favoring males. The current study examined associations between preschool DBD symptom domains and prenatal exposure to testosterone measured indirectly via right 2D:4D finger-length ratios. The study sample consisted of 109 preschool-age children between ages 3 and 6 (64% males;72% with DBD) and their primary caregivers. Primary caregivers completed a semi-structured interview (i.e., Kiddie Disruptive Behavior Disorder Schedule), as well as symptom questionnaires (i.e., Disruptive Behavior Rating Scale, Peer Conflict Scale); teachers and/or daycare providers completed symptom questionnaires and children provided measures of prenatal testosterone exposure, measured indirectly via finger-length ratios (i.e., right 2D:4D). Study results indicated a significant association of high prenatal testosterone (i.e., smaller right 2D:4D) with high hyperactive-impulsive ADHD symptoms in girls but not boys, suggesting that the effect may be driven by, or might only exist in, girls. The present study suggests that prenatal exposure to testosterone may increase risk for early ADHD, particularly hyperactivity-impulsivity, in preschool girls.

  19. Prenatal treatment of mothers with fetuses at risk for congenital adrenal hyperplasia: How relevant is it to Indian context?

    Directory of Open Access Journals (Sweden)

    Marumudi Eunice

    2013-01-01

    Full Text Available Management of congenital adrenal hyperplasia (CAH from embryonic stage to adulthood is a critical challenge. We would like to comment on some of the practical difficulties in offering prenatal treatment for CAH-affected fetuses in Indian population. For initiating the prenatal dexamethasone (DEX treatment, all members of the family need to be informed about the risks and benefits of the treatment to the mother and the fetus as well as about the available invasive diagnostic tests to determine the gender and genotype of the fetus. Prenatal sex disclosure is not routinely practiced in India due to high female feticide rate. The treatment has to be given to both unaffected and affected female fetuses until the determination of prenatal sex. Moreover, most of our populations reside in rural areas where the antenatal care is not adequate. Prenatal DEX treatment in India outruns the risks rather than the benefits, as evident from the literature on the safety of pregnant mothers and fetuses.

  20. Ultraviolet-Visible and Fluorescence Spectroscopy Techniques Are Important Diagnostic Tools during the Progression of Atherosclerosis: Diet Zinc Supplementation Retarded or Delayed Atherosclerosis

    Science.gov (United States)

    Abdelhalim, Mohamed Anwar K.; Moussa, Sherif A. Abdelmottaleb; AL-Mohy, Yanallah Hussain

    2013-01-01

    Background. In this study, we examined whether UV-visible and fluorescence spectroscopy techniques detect the progression of atherosclerosis in serum of rabbits fed on high-cholesterol diet (HCD) and HCD supplemented with zinc (HCD + Zn) compared with the control. Methods. The control rabbits group was fed on 100 g/day of normal diet. The HCD group was fed on Purina Certified Rabbit Chow supplemented with 1.0% cholesterol plus 1.0% olive oil (100 g/day) for the same period. The HCD + Zn group was fed on normal Purina Certified Rabbit Chow plus 1.0% cholesterol and 1.0% olive oil supplemented with 470 ppm Zn for the same feeding period. UV-visible and fluorescence spectroscopy and biochemistry in Rabbit's blood serum and blood hematology were measured in Rabbit's blood. Results. We found that the fluorescent peak of HCD shifted toward UV-visible wavelength compared with the control using fluorescent excitation of serum at 192 nm. In addition, they showed that supplementation of zinc (350 ppm) restored the fluorescent peak closely to the control. By using UV-visible spectroscopy approach, we found that the peak absorbance of HCD (about 280 nm) was higher than that of control and that zinc supplementation seemed to decrease the absorbance. Conclusions. This study demonstrates that ultraviolet-visible and fluorescence spectroscopy techniques can be applied as noninvasive techniques on a sample blood serum for diagnosing or detecting the progression of atherosclerosis. The Zn supplementation to rabbits fed on HCD delays or retards the progression of atherosclerosis. Inducing anemia in rabbits fed on HCD delays the progression of atherosclerosis. PMID:24350281

  1. Ultraviolet-visible and fluorescence spectroscopy techniques are important diagnostic tools during the progression of atherosclerosis: diet zinc supplementation retarded or delayed atherosclerosis.

    Science.gov (United States)

    Abdelhalim, Mohamed Anwar K; Moussa, Sherif A Abdelmottaleb; Al-Mohy, Yanallah Hussain

    2013-01-01

    In this study, we examined whether UV-visible and fluorescence spectroscopy techniques detect the progression of atherosclerosis in serum of rabbits fed on high-cholesterol diet (HCD) and HCD supplemented with zinc (HCD + Zn) compared with the control. The control rabbits group was fed on 100 g/day of normal diet. The HCD group was fed on Purina Certified Rabbit Chow supplemented with 1.0% cholesterol plus 1.0% olive oil (100 g/day) for the same period. The HCD + Zn group was fed on normal Purina Certified Rabbit Chow plus 1.0% cholesterol and 1.0% olive oil supplemented with 470 ppm Zn for the same feeding period. UV-visible and fluorescence spectroscopy and biochemistry in Rabbit's blood serum and blood hematology were measured in Rabbit's blood. We found that the fluorescent peak of HCD shifted toward UV-visible wavelength compared with the control using fluorescent excitation of serum at 192 nm. In addition, they showed that supplementation of zinc (350 ppm) restored the fluorescent peak closely to the control. By using UV-visible spectroscopy approach, we found that the peak absorbance of HCD (about 280 nm) was higher than that of control and that zinc supplementation seemed to decrease the absorbance. This study demonstrates that ultraviolet-visible and fluorescence spectroscopy techniques can be applied as noninvasive techniques on a sample blood serum for diagnosing or detecting the progression of atherosclerosis. The Zn supplementation to rabbits fed on HCD delays or retards the progression of atherosclerosis. Inducing anemia in rabbits fed on HCD delays the progression of atherosclerosis.

  2. In-situ fluorimetry: a powerful non-invasive diagnostic technique for natural dyes used in artefacts. Part II. Identification of orcein and indigo in Renaissance tapestries.

    Science.gov (United States)

    Clementi, C; Miliani, C; Romani, A; Santamaria, U; Morresi, F; Mlynarska, K; Favaro, G

    2009-01-01

    In this paper, three Renaissance tapestries depicting scenes painted by Raffaello Sanzio, conserved at the Vatican Museum, were investigated using in-situ UV-Visible fluorimetric measurements. The results show that this technique is suitable for the detection of natural organic colorants used for dyeing the threads woven in these tapestries. The emission signals detected on red-purple colours were assigned to the colorant orcein and those on different nuances of blue and green colours to indigo by comparison with data from reference laboratory samples. The assignments were supported by chromatographic experiments carried out on threads taken from the back side of the tapestry in the same points analysed by spectrofluorimentry.

  3. Ultraviolet-Visible and Fluorescence Spectroscopy Techniques Are Important Diagnostic Tools during the Progression of Atherosclerosis: Diet Zinc Supplementation Retarded or Delayed Atherosclerosis

    OpenAIRE

    Abdelhalim, Mohamed Anwar K; Abdelmottaleb Moussa, Sherif A.; Yanallah Hussain AL-Mohy

    2013-01-01

    Background. In this study, we examined whether UV-visible and fluorescence spectroscopy techniques detect the progression of atherosclerosis in serum of rabbits fed on high-cholesterol diet (HCD) and HCD supplemented with zinc (HCD + Zn) compared with the control. Methods. The control rabbits group was fed on 100 g/day of normal diet. The HCD group was fed on Purina Certified Rabbit Chow supplemented with 1.0% cholesterol plus 1.0% olive oil (100 g/day) for the same period. The HCD + Zn group...

  4. MJO Simulation Diagnostics

    Energy Technology Data Exchange (ETDEWEB)

    Waliser, D; Sperber, K; Hendon, H; Kim, D; Maloney, E; Wheeler, M; Weickmann, K; Zhang, C; Donner, L; Gottschalck, J; Higgins, W; Kang, I; Legler, D; Moncrieff, M; Schubert, S; Stern, W; Vitart, F; Wang, B; Wang, W; Woolnough, S

    2008-06-02

    The Madden-Julian Oscillation (MJO) interacts with, and influences, a wide range of weather and climate phenomena (e.g., monsoons, ENSO, tropical storms, mid-latitude weather), and represents an important, and as yet unexploited, source of predictability at the subseasonal time scale. Despite the important role of the MJO in our climate and weather systems, current global circulation models (GCMs) exhibit considerable shortcomings in representing this phenomenon. These shortcomings have been documented in a number of multi-model comparison studies over the last decade. However, diagnosis of model performance has been challenging, and model progress has been difficult to track, due to the lack of a coherent and standardized set of MJO diagnostics. One of the chief objectives of the US CLIVAR MJO Working Group is the development of observation-based diagnostics for objectively evaluating global model simulations of the MJO in a consistent framework. Motivation for this activity is reviewed, and the intent and justification for a set of diagnostics is provided, along with specification for their calculation, and illustrations of their application. The diagnostics range from relatively simple analyses of variance and correlation, to more sophisticated space-time spectral and empirical orthogonal function analyses. These diagnostic techniques are used to detect MJO signals, to construct composite life-cycles, to identify associations of MJO activity with the mean state, and to describe interannual variability of the MJO.

  5. Fluorescence in situ hybridization in uncultured amniocytes for detection of aneuploidy in 4210 prenatal cases

    Institute of Scientific and Technical Information of China (English)

    JIA Chan-wei; WANG Shu-yu; MA Yan-min; LAN Yong-lian; SI Yan-mei; YU Lan; ZHOU Li-ying

    2011-01-01

    Background Almost all reported fluorescence in situ hybridization (FISH) kits for prenatal diagnosis use probes from foreign (non-Chinese) countries. The aim of this study was to analyze the reliability of domestic (Chinese) FISH probe sets to detect aneuploidies of chromosomes 13, 18, 21, X, and Y related to prenatal diagnosis in 4210 cases.Methods Cytogenetic karyotyping was carded out as a standard prenatal diagnostic test, and amniotic fluid cell interphase FISH analysis was performed using two sets of probes (centromeric probes for chromosomes 18, X, and Y,and locus-specific probes for chromosomes 13 and 21) provided by GP Medical Technologies, Beijing, China. Then we compared the two results and found the performance characteristics for informative FISH results of aneuploidies by the domestic kit probes.Results In 4210 cases, 4126 cases generated karyotype results and 133 abnormal karyotypes (including 97 aneuploidies) were found. The FISH results of 98 cases (among them, 31 cases gave normal cytogenetic results) were uninformative. The rate of abnormal cases was 3.2% (133/4126). For the abnormal karyotypes, the rate of aneuploidy was 72.9% (97/133). Among the 97 aneuploidies, there were 58 cases of trisomy 21 (58/97, 59.8%), four cases of trisomy 13, 23 cases of trisomy 18, and 12 cases of sex chromosomal aneuploidies. The total concordance of the two methods was 97.9% (95/97; two cases were mosaics that had a low percentage of abnormal cells), and the concordance of trisomy 21, 13, and 18 by the two methods was 100%.Conclusions The two sets of the domestic FISH kit probes are reliable for prenatal diagnosis. The results demonstrate that FISH is a rapid and accurate clinical method for prenatal identification of chromosome aneuploidies.

  6. Risk, medicine and women: a case study on prenatal genetic counselling in Brazil.

    Science.gov (United States)

    Guilam, Maria Cristina R; Corrêa, Marilena C D V

    2007-08-01

    Genetic counselling is an important aspect of prenatal care in many developed countries. This tendency has also begun to emerge in Brazil, although few medical centres offer this service. Genetic counselling provides prenatal risk control through a process of individual decision-making based on medical information, in a context where diagnostic and therapeutic possibilities overlap. Detection of severe foetal anomalies can lead to a decision involving possible termination of pregnancy. This paper focuses on medical and legal consequences of the detection of severe foetal anomalies, mainly anencephaly and Down syndrome, and in light of the fact that abortion is illegal in Brazil. The discussion is based on the literature and empirical research at a high-complexity public hospital in Rio de Janeiro.

  7. Prenatal ultrasound heating impacts on fluctuations in haematological analysis of Oryctolagus cuniculus.

    Science.gov (United States)

    Ahmad Zaiki, Farah Wahida; Md Dom, Sulaiman; Abdul Razak, Hairil Rashmizal; Hassan, Hamzah Fansuri

    2013-10-01

    Prenatal Ultrasound (US) is commonly used as a routine procedure on pregnant women. It is generally perceived as a safe procedure due to the use of non-ionizing radiation. However, the neurotoxicity of diagnostic prenatal US was detected to have a correlation with high susceptibility to early developing fetus. This research involved in vivo experimental model by using 3(rd) trimester pregnant Oryctolagus cuniculus and exposing them to US exposures for 30, 60, and 90 minutes at their gestational day (GD) 28-29. The output power and intensities, spatial peak temporal average intensity (ISPTA) of US were varied from 0.4 to 0.7 W and 0.13 to 0.19 W/cm(2) respectively were tested initially in free-field, water. Haematological analysis was carried out to detect any changes in blood constituents. Statistically significant differences were detected in red blood cell (RBC) count (Pheating in causing defects on studied animal.

  8. Detection of critical congenital heart defects: Review of contributions from prenatal and newborn screening.

    Science.gov (United States)

    Olney, Richard S; Ailes, Elizabeth C; Sontag, Marci K

    2015-04-01

    In 2011, statewide newborn screening programs for critical congenital heart defects began in the United States, and subsequently screening has been implemented widely. In this review, we focus on data reports and collection efforts related to both prenatal diagnosis and newborn screening. Defect-specific, maternal, and geographic factors are associated with variations in prenatal detection, so newborn screening provides a population-wide safety net for early diagnosis. A new web-based repository is collecting information on newborn screening program policies, quality indicators related to screening programs, and specific case-level data on infants with these defects. Birth defects surveillance programs also collect data about critical congenital heart defects, particularly related to diagnostic timing, mortality, and services. Individuals from state programs, federal agencies, and national organizations will be interested in these data to further refine algorithms for screening in normal newborn nurseries, neonatal intensive care settings, and other special populations; and ultimately to evaluate the impact of screening on outcomes.

  9. Update on procedure-related risks for prenatal diagnosis techniques

    DEFF Research Database (Denmark)

    Tabor, Ann; Alfirevic, Zarko

    2010-01-01

    from randomised controlled trials as well as from systematic reviews and a large national registry study are consistent with a procedure-related miscarriage rate of 0.5-1.0% for amniocentesis as well as for chorionic villus sampling (CVS). In single-center studies performance may be remarkably good due...... to very skilled operators, but these figures cannot be used for general counselling. Amniocentesis performed prior to 15 weeks had a significantly higher miscarriage rate than CVS and mid-trimester amniocentesis, and also increased the risk of talipes equinovarus. Amniocentesis should therefore...

  10. 弓形虫病免疫诊断用重组抗原及检测方法研究进展%Research progress on recombinant antigen and diagnostic technique for immunological diagnosis of toxoplasmosis

    Institute of Scientific and Technical Information of China (English)

    杨永刚; 曹利民; 朱荫昌

    2010-01-01

    Toxoplasma is a kind of parasitic protozoa that can infect all warm blooded animals including humans and cause toxoplasmosis manifesting various symptoms. Diagnosis for toxoplasmosis include etiology,immunology, and molecular biology methods. Immunological diagnostic methods are common for Toxoplasma infection. This article reviewed research progress on recombinant antigen and diagnostic technique development for immunological diagnosis of toxoplasmosis.%弓形虫是一种寄生原虫,可感染人在内的所有温血动物,并会引发表现为多种症状的弓形虫病.弓形虫病的诊断方法有病原学、免疫学、分子生物学等方法.免疫学诊断是进行弓形虫感染检测的常用方法.该文就弓形虫感染的免疫诊断用重组抗原及检测方法的应用和研究进展作一综述.

  11. Non-invasive prenatal testing for aneuploidy and beyond

    DEFF Research Database (Denmark)

    Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne

    2015-01-01

    This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT ha...

  12. Video recording to improve the quality of prenatal genetic counselling.

    NARCIS (Netherlands)

    Spelten, E.; Gitsels, J.; Pereboom, M.; Martin, L.; Hutton, E.; Dulmen, S. van

    2012-01-01

    OBJECTIVES: Counselling on prenatal testing has become an increasing part of obstetric care in the Netherlands. The majority of Dutch women (>70%) are counselled by midwives on prenatal testing (Wiegers and Hingstman, 2008). Prenatal screening on congenital abnormalities is not routinely done and pr

  13. Nanobiosensors in diagnostics

    Directory of Open Access Journals (Sweden)

    Alejandro Chamorro-Garcia

    2016-11-01

    Full Text Available Medical diagnosis has been greatly improved thanks to the development of new techniques capable of performing very sensitive detection and quantifying certain parameters. These parameters can be correlated with the presence of specific molecules and their quantity. Unfortunately, these techniques are demanding, expensive, and often complicated. On the other side, progress in other fields of science and technology has contributed to the rapid growth of nanotechnology. Although being an emerging discipline, nanotechnology has raised huge interest and expectations. Most of the enthusiasm comes from new possibilities and properties of nanomaterials. Biosensors (simple, robust, sensitive, cost-effective combined with nanomaterials, also called nanobiosensors, are serving as bridge between advanced detection/diagnostics and daily/routine tests. Here we review some of the latest applications of nanobiosensors in diagnostics field.

  14. Prenatal diagnosis of lissencephaly: A case report

    Directory of Open Access Journals (Sweden)

    Cerovac Nataša

    2016-01-01

    Full Text Available Introduction. Lissencephaly (“smooth brain” forms a major group of brain malformations due to abnormal neuronal migration. It can cause severe intellectual and motor disability and epilepsy in children. The prenatal diagnosis of this malformation is rare. Case report. We presented a case of the prenatal diagnosis of lissencephaly. A 30-year old pregnant woman was reffered to the hospital at the week 35 of gestation for magnetic resonance imaging (MRI after an ultrasound examination demonstrated fetal cerebral ventriculomegaly. Fetal MRI of the brain showed “smooth”, agyrya cortex. The female infant was born at term with birth weight of 2,500 g and Apgar score 8, showing global developmental delay. Postnatal ultrasound and MRI confirmed classical lissencephaly. She is now 8 years old and has spastic quadriparesis, mental retardation and epilepsy. Conclusion. Confirmation of the ultrasound diagnosis with MRI is desirable for the prenatal diagnosis of lissencephaly.

  15. Prenatal maternal anxiety and early childhood temperament.

    Science.gov (United States)

    Blair, Megan M; Glynn, Laura M; Sandman, Curt A; Davis, Elysia Poggi

    2011-11-01

    The consequences of exposure to prenatal maternal anxiety for the development of child temperament were examined in a sample of 120 healthy, 2-year-old children. Prenatal maternal state and pregnancy-specific anxiety (PSA) were measured five times during pregnancy, and maternal state anxiety was measured again at 2 years post partum. Child temperament was measured at 2 years using the Early Childhood Behavior Questionnaire. The relationship between the trajectory of maternal anxiety across gestation and negative affectivity was evaluated using hierarchical linear growth curve modeling. Higher maternal PSA between 13 and 17 weeks of gestation was associated with increased negative temperament in the children. This association could not be explained by postnatal maternal anxiety, demographic, or obstetric factors. Prenatal maternal state anxiety was not associated with child temperament. These findings demonstrate that PSA early in gestation has a distinctive influence on the developing fetus.

  16. Diagnostic accuracy of semi-quantitative and quantitative culture techniques for the diagnosis of catheter-related infections in newborns and molecular typing of isolated microorganisms.

    Science.gov (United States)

    Riboli, Danilo Flávio Moraes; Lyra, João César; Silva, Eliane Pessoa; Valadão, Luisa Leite; Bentlin, Maria Regina; Corrente, José Eduardo; Rugolo, Ligia Maria Suppo de Souza; da Cunha, Maria de Lourdes Ribeiro de Souza

    2014-05-22

    Catheter-related bloodstream infections (CR-BSIs) have become the most common cause of healthcare-associated bloodstream infections in neonatal intensive care units (ICUs). Microbiological evidence implicating catheters as the source of bloodstream infection is necessary to establish the diagnosis of CR-BSIs. Semi-quantitative culture is used to determine the presence of microorganisms on the external catheter surface, whereas quantitative culture also isolates microorganisms present inside the catheter. The main objective of this study was to determine the sensitivity and specificity of these two techniques for the diagnosis of CR-BSIs in newborns from a neonatal ICU. In addition, PFGE was used for similarity analysis of the microorganisms isolated from catheters and blood cultures. Semi-quantitative and quantitative methods were used for the culture of catheter tips obtained from newborns. Strains isolated from catheter tips and blood cultures which exhibited the same antimicrobial susceptibility profile were included in the study as positive cases of CR-BSI. PFGE of the microorganisms isolated from catheters and blood cultures was performed for similarity analysis and detection of clones in the ICU. A total of 584 catheter tips from 399 patients seen between November 2005 and June 2012 were analyzed. Twenty-nine cases of CR-BSI were confirmed. Coagulase-negative staphylococci (CoNS) were the most frequently isolated microorganisms, including S. epidermidis as the most prevalent species (65.5%), followed by S. haemolyticus (10.3%), yeasts (10.3%), K. pneumoniae (6.9%), S. aureus (3.4%), and E. coli (3.4%). The sensitivity of the semi-quantitative and quantitative techniques was 72.7% and 59.3%, respectively, and specificity was 95.7% and 94.4%. The diagnosis of CR-BSIs based on PFGE analysis of similarity between strains isolated from catheter tips and blood cultures showed 82.6% sensitivity and 100% specificity. The semi-quantitative culture method showed higher

  17. 学龄前儿童眩晕的病因分析及诊断方法的合理选择%Preschool children' s vertigo: an investigation of etiologies and choice of appropriate diagnostic techniques

    Institute of Scientific and Technical Information of China (English)

    曾祥丽; 李鹏; 李永奇; 岑锦添; 黎志成

    2011-01-01

    Objective To identify common etiologies, clinical characteristics and appropriate diagnostic techniques in preschool children with vertigo. Methods The authors retrospectively analyzed the clinical characteristics, process of diagnosis and treatment in 12 vertigo-suffering children aging from 14 months to 6.5 years, and their parents' attitude toward the diagnostic techniques. Results (l) Etiologies of vertigo in the 12 children included secretory otitis media (SOM, n=3), benign paroxysmal vertigo (BPV, n=3), inner ear malformation (n=3), benign paroxysmal positional vertigo (BPPV, n=2) and Meniere' s disease (MD, n=l). (2) The younger the child, the fewer typical complaints of vertigo, instead of recurrent falls, difficulties in walking, poor balance and clumsiness, fear or panic. The youngest child that complained of vertigo was 5.5 years old. None of the children were able to describe the details of their vertigo episodes. (3) Among all the diagnostic techniques, vertigo questionnaire was the most acceptable to parents, and vestibular tests were the least. Conclusion Common etiologies of preschool children vertigo include SOM, BPV and inner ear malformation, Sufferers younger than 5 years seldom complain of vertigo. Vertigo questionnaires are powerful tools for clinicians in detecting vertigo and a thorough understanding of the history and symptoms helps the clinician in selecting appropriate diagnostic techniques.%目的 探讨学龄前儿童眩晕的常见病因、临床表现特点及合理的诊断方法.方法 回顾性分析12例学龄前儿童眩晕的临床表现特点、诊疗经过、结果及家长对各项诊断方法的接受程度.结果 (1) 12例患儿的诊断结果为:分泌性中耳炎3/12,儿童良性发作性眩晕3/12,内耳畸形3/12,良性阵发性位置性眩晕2/12,梅尼埃病1/12.(2)患儿年龄越小,典型的眩晕主诉越少,多表现为摔倒、行走不稳、行动笨拙、恐惧和害怕,能主诉眩晕的患儿最小年龄5.5

  18. Spiral computed tomography angiography (SCTA) and color coded duplex ultrasound (CCDUS): two complementary diagnostic techniques for assessment of extracranial cerebral artery stenosis.

    Science.gov (United States)

    Scaroni, Reana; Cardaioli, Gabriela; Pelliccioli, Gian Piero; Gallai, Virgilio

    2002-01-01

    Atherosclerotic lesions of the extracranial cerebral arteries account for ischemic stroke in over half of all cases. The risk of stroke associated with symptomatic carotid artery disease is related to the severity of the stenosis. Results of the two major clinical trials, North American Symptomatic Carotid Endarterectomy Trial (NASCET) and European Carotid Surgery Trial (ECST), showed that patients with symptomatic carotid artery disease may benefit from carotid endarterectomy. Therefore, detection and quantification of stenosis are essential. Discrepancies in the angiographic criteria used in both NASCET and ECST trials resulted in continued controversy about the most accurate method of measuring carotid artery stenosis. Moreover, to avoid complications related to the angiography procedure, a good evaluation of vessel wall and plaque composition need to be considered. Both SCTA and CCDUS are non invasive techniques that could overcome angiographic complications and give detailed information on stenosis grading and plaque characteristics. They have been used to evaluate carotid stenosis as a single or combined methods.

  19. Diagnóstico pré-natal e aborto seletivo: um desafio à prática e às políticas Prenatal diagnosis and selective abortion: a challenge for practice and policies

    Directory of Open Access Journals (Sweden)

    Adrienn Asch

    2003-12-01

    Full Text Available Este artigo defende o argumento de que a popularização do aborto seletivo com as modernas técnicas de diagnóstico pré-natal representa um risco à integridade moral dos deficientes, caso ele não seja acompanhado de uma intensificação das políticas de bem-estar para as pessoas portadoras de deficiência.This article contends that the popularization of selective abortion in the wake of modern prenatal diagnostic techniques poses a risk to the moral integrity of people with disabilities, if it is not accompanied by the intensification of policies for the well-being of people with disabilities.

  20. The human brain. Prenatal development and structure

    Energy Technology Data Exchange (ETDEWEB)

    Marin-Padilla, Miguel

    2011-07-01

    This book is unique among the current literature in that it systematically documents the prenatal structural development of the human brain. It is based on lifelong study using essentially a single staining procedure, the classic rapid Golgi procedure, which ensures an unusual and desirable uniformity in the observations. The book is amply illustrated with 81 large, high-quality color photomicrographs never previously reproduced. These photomicrographs, obtained at 6, 7, 11, 15, 18, 20, 25, 30, 35, and 40 weeks of gestation, offer a fascinating insight into the sequential prenatal development of neurons, blood vessels, and glia in the human brain. (orig.)

  1. Prenatal screening costs at a large military treatment facility.

    Science.gov (United States)

    Shiv, Erin; Sale, Taylor J; Simsiman, Amanda; Leininger, William M; Lutgendorf, Monica A

    2017-07-01

    Prenatal screening with cell-free DNA (cfDNA) offers improved detection of Down syndrome (T21) compared to conventional screening. These tests are expensive and have fewer detectable anomalies. Our objective was to investigate potential costs and test performance of screening algorithms when accounting for detectable aneuploidies. This is a cost analysis for a large military treatment facility. Using a theoretical delivery cohort and published performance data, universal screening with cfDNA was compared to sequential screening, comparing T21 to all detectable aneuploidies. Predicted test performance and costs were calculated. A cohort of 3000 deliveries was used. For T21, universal cfDNA is more expensive ($1,346,064) than sequential screening ($244,885), but has a lower false positive rate and avoids 101 invasive diagnostic tests. An additional case of T21 is detected with a marginal cost of $1,101,179. For all detectable aneuploidies, cfDNA is more expensive ($1,353,660) than sequential screening ($239,189), and 59 invasive diagnostic tests are avoided. Sequential screening detects an additional case of aneuploidy, with a cost savings of $1,114,471. Although cfDNA is superior in detecting T21 cases, sequential screening is superior when considering all aneuploidies detectable. The cost increase with universal cfDNA is significant, and is not justified with small improvements in the performance.

  2. Diagnóstico pré-natal das genodermatoses Prenatal diagnosis of genodermatoses

    Directory of Open Access Journals (Sweden)

    Maria Carolina de Abreu Sampaio

    2007-08-01

    Full Text Available O diagnóstico pré-natal está indicado para algumas genodermatoses graves, como a epidermólise bolhosa distrófica recessiva e a epidermólise bolhosa juncional. A biópsia de pele fetal foi introduzida em 1980, mas não pode ser realizada antes da 15a semana de gestação. A análise do DNA fetal é método preciso e pode ser realizado mais precocemente na gestação. No entanto, deve-se conhecer a base molecular da genodermatose, e é essencial determinar a mutação e/ou marcadores informativos nas famílias com criança previamente afetada. O DNA fetal pode ser obtido pela biópsia da vilosidade coriônica ou amniocentese. O diagnóstico genético pré-implantação tem surgido como alternativa que dispensa a interrupção da gestação. Essa técnica, que envolve fertilização in vitro e teste genético do embrião. vem sendo realizada para genodermatoses em poucos centros de referência. A ultra-sonografia é exame não invasivo, mas tem uso limitado no diagnóstico pré-natal de genodermatoses. A ultrasonografia tridimensional geralmente estabelece o diagnóstico tardiamente na gestação, e há apenas relatos anedóticos de diagnóstico pré-natal de genodermatoses usando esse método.Prenatal diagnostic testing is indicated for some severe genodermatoses, such as recessive dystrophic epidermolysis bullosa and junctional epidermolysis bullosa. Fetal skin biopsy was introduced in 1980, but it cannot be performed before 15th gestational week. Fetal DNA analysis is a precise method and can be performed earlier in pregnancy. However, the molecular basis of the genodermatoses must be known and it is essential to determine the gene mutations and/or informative markers in the families with a previously affected child. Fetal DNA can be obtained by chorionic villus sampling or amniocentesis. Preimplantation genetic diagnosis is an alternative approach obviating the need for termination of pregnancy. It involves in vitro fertilization and

  3. Molecular diagnostics of periodontitis

    Directory of Open Access Journals (Sweden)

    Izabela Korona-Głowniak

    2017-01-01

    Full Text Available The microorganisms that form dental plaque are the main cause of periodontitis. Their identification and the understanding of the complex relationships and interactions that involve these microorganisms, environmental factors and the host’s health status enable improvement in diagnostics and targeted therapy in patients with periodontitis. To this end, molecular diagnostics techniques (both techniques based on the polymerase chain reaction and those involving nucleic acid analysis via hybridization come increasingly into use. On the basis of a literature review, the following methods are presented: polymerase chain reaction (PCR, real-time polymerase chain reaction (real-time PCR, 16S rRNA-encoding gene sequencing, checkerboard and reverse-capture checkerboard hybridization, microarrays, denaturing gradient gel electrophoresis (DGGE, temperature gradient gel electrophoresis (TGGE, as well as terminal restriction fragment length polymorphism (TRFLP and next generation sequencing (NGS. The advantages and drawbacks of each method in the examination of periopathogens are indicated. The techniques listed above allow fast detection of even small quantities of pathogen present in diagnostic material and prove particularly useful to detect microorganisms that are difficult or impossible to grow in a laboratory.

  4. Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

    NARCIS (Netherlands)

    van Schendel, R.V.; Kleinveld, J.H.; Dondorp, W.J.; Pajkrt, E.; Timmermans, D.R.M.; Holtkamp, K.C.A.; Karsten, M.; Vlietstra, A.L.; Lachmeijer, A.M.A.; Henneman, L.

    2014-01-01

    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 Netherla

  5. Factors associated with inadequate prenatal care in Ecuadorian women.

    Science.gov (United States)

    Paredes, I; Hidalgo, L; Chedraui, P; Palma, J; Eugenio, J

    2005-02-01

    Although inadequate prenatal care has been associated with adverse perinatal outcomes, reports on the factors associated with poor prenatal care in developing Latin American countries are scarce. To determine factors associated with inadequate prenatal care among women from low socioeconomic circumstances. Women delivered after a pregnancy duration of more than 20 weeks at the Enrique C. Sotomayor Obstetrics and Gynecology Hospital, Guayaquil, Ecuador, were surveyed. The questionnaire collected sociodemographic data and reasons for having inadequate prenatal care. Adequacy of prenatal care was measured with the Kessner index and correlated to the sociodemographic data. During the study period, 1016 pregnant women were surveyed. Among them, there were adolescents (23.7%), primigravidas (30.8%), and women with a high-risk pregnancy (29.3%). According to the Kessner index, prenatal care was considered adequate or inadequate in 24.5% and 75.5% of cases, respectively. Knowledge regarding the importance of adequate prenatal care and the effects of poor prenatal care was lower among women who had received inadequate prenatal care. The women that were considered to have had adequate prenatal care had at least one visit, and they were more often cared for by a specialist than women who considered having inadequate prenatal care. The three most important reasons associated to inadequate prenatal care in this series (n=767), were economic difficulties having to care for a small child, and transportation difficulties. Logistic regression analysis determined that women with undesired pregnancies who resided in rural areas and were para 5 or higher had an increased risk of inadequate prenatal care. On the other hand, an adverse outcome to a prior pregnancy (abortion, intrauterine fetal demise, or ectopic pregnancy) decreased this risk. Marital status and educational level were confounding factors. Although prenatal care at our institution is free, adequacy was thought to be low

  6. Prenatal toxoplasmosis diagnosis from amniotic fluid by PCR

    Directory of Open Access Journals (Sweden)

    Vidigal Paula Vieira Teixeira

    2002-01-01

    Full Text Available Toxoplasmosis is one of the most common infections all over the world. Most cases are asymptomatic, except in immunosuppressed individuals and fetuses, which can be seriously damaged. Prenatal diagnosis should be made as soon as possible since treatment of the mother can minimize fetal sequelae. Our aim in this study was to test the polymerase chain reaction technique (PCR in 86 samples of amniotic fluid from women who seroconverted during pregnancy. DNA was amplified using external primers and, in a second step, internal primers, in a nested PCR system. Samples were also inoculated into mice and the newborn were evaluated by T. gondii serology, skull x-ray, transfontanel ultrasound, fundoscopic examination, lumbar puncture and clinical examination. PCR was positive in seven cases and negative in 79. Among PCR-positive cases, two were negative by inoculation into mice and by clinical evaluation; among PCR-negative ones, three had clinical evidence of toxoplasmosis and one was positive after inoculation into mice. PCR showed values of sensitivity = 62.5% and specificity = 97.4%; the values of inoculation into mice where 42.9% and 100%, respectively. Although PCR should not be used alone for prenatal diagnosis of congenital toxoplasmosis, it is a promising method and deserves more studies to improve its efficacy.

  7. Prenatal stress may increase vulnerability to life events comparison with the effects of prenatal dexamethasone

    DEFF Research Database (Denmark)

    Hougaard, Karin; Andersen, Maibritt B; Kjaer, Sanna L

    2005-01-01

    Prenatal stress has been associated with a variety of alterations in the offspring. The presented observations suggest that rather than causing changes in the offspring per se, prenatal stress may increase the organism's vulnerability to aversive life events. Offspring of rat dams stressed...... gestationally by chronic mild stress (CMS, a variable schedule of different stressors) or dexamethasone (DEX, a synthetic glucocorticoid, i.e., a pharmacological stressor) was tested for reactivity by testing their acoustic startle response (ASR). Two subsets of offspring were tested. One was experimentally...... naïve at the time of ASR testing, whereas the other had been through blood sampling for assessment of the hormonal stress response to restraint, 3 months previously. Both prenatal CMS and dexamethasone increased ASR in the offspring compared to controls, but only in prenatally stressed offspring...

  8. 用于印制板电路诊断的自动探测技术研究%Research on Automatic Probing Technique for Diagnostic of PCB

    Institute of Scientific and Technical Information of China (English)

    王格芳; 黄允华; 吴国庆; 谭业双

    2001-01-01

    The diagnosis testing for Printed Circuit Board (PUB) is one ofbasic functions of Automatic Test System (ATS). It can effectively overcomes some defects of traditional manual probing mode by using automatic probing technique. This paper introduces the disadvantage of traditional PCB diagnosis testing mode and the work principle of automatic probing device with program control. It expatiates that automatic probing technology apply to PCB diagnosis testing of army electric equip General Automatic Test System (GATS), and the advantages of automatic probing to manual probing is discussed by using example, finally, it explains the other functions develop of automatic probing device.%印制板电路(PCB)的诊断测试是自动测试系统(ATS)的基本功能之一,在采用自动探测技术后将有效地克服传统人工探测方式存在的一些缺点。简介了传统PCB诊断测试方式的不足和程控自动探测设备的工作原理,重点阐述了自动探测技术在陆军电子装备通用自动测试系统(GATS)的PCB诊断测试中的应用,并结合实例讨论了自动探测相对人工探测的优越性,最后说明了自动探测设备的其它功能开发。

  9. Mild cognitive impairment. Diagnostic value of different MR techniques; ''Mild cognitive impairment''. Diagnostische Wertigkeit verschiedener MR-Techniken

    Energy Technology Data Exchange (ETDEWEB)

    Hauser, T.; Stieltjes, B.; Essig, M. [Deutsches Krebsforschungszentrum (DKFZ) Heidelberg, Abteilung E010 Radiologie, Heidelberg (Germany); Thomann, P.A. [Zentrum fuer Psychosoziale Medizin, Universitaetsklinikum Heidelberg, AG Strukturelle Bildgebung, Klinik fuer Allgemeine Psychiatrie, Heidelberg (Germany)

    2011-04-15

    In view of an increasingly aging population the prevalence of dementia is also expected to increase rapidly. As well as clinical, neuropsychological and laboratory procedures magnetic resonance imaging (MRI) plays an important role in the early diagnosis of dementia which is important in the precursor stage of mild cognitive impairment (MCI). On the one hand this stage is associated with an increased risk of dementia and on the other hand an early treatment in this stage could attenuate development of the disease. In addition to morphological changes different functional MRI techniques can help in the early diagnosis of dementia and the precursor stages. Moreover, it is important to detect those MCI patients who are at particularly risk for developing dementia. In the differentiation of converters to non-converters initial studies suggest that particularly voxel-based morphometry, MR spectroscopy and diffusion tensor imaging can provide important additional information. (orig.) [German] Angesichts einer immer aelter werdenden Bevoelkerung sind wir mit dem Problem einer zunehmenden Zahl an Patienten mit Demenzerkrankungen konfrontiert. In der Fruehdiagnostik einer Demenz spielen neben klinischen, neuropsychologischen und laborchemischen Untersuchungen nichtinvasive Bildgebungsverfahren wie die MRT eine bedeutende Rolle. Wichtig ist dabei die Fruehdiagnostik einer Demenz bereits im Vorstadium der leichten kognitiven Beeintraechtigung (''mild cognitive impairment'', MCI), da dieses Krankheitsbild mit einem deutlich erhoehten Demenzrisiko einhergeht und durch eine fruehzeitige Therapie der Krankheitsverlauf abgemildert oder deutlich verzoegert werden kann. Neben morphologischen Veraenderungen helfen verschiedene funktionelle MR-Verfahren bei der Fruehdiagnostik einer Demenz. Darueber hinaus ist es von grosser Bedeutung, diejenigen MCI-Patienten zu detektieren, die in besonderem Masse von einer Demenz bedroht sind. Bei der Differenzierung von

  10. [Patent ductus arteriosus in the dog: a retrospective study of clinical presentation, diagnostics and comparison of interventional techniques in 102 dogs (2003-2011)].

    Science.gov (United States)

    Meijer, M; Beijerink, N J

    2012-06-01

    A left-to-right shunting patent ductus arteriosus (PDA) is a common congenital heart defect in dogs. If it is left uncorrected, life expectancy in most cases is decreased due to the development of left-sided congestive heart failure. The aim of this study was to describe the dogs diagnosed with PDA in the Utrecht University Companion Animal Clinic from 2003 to 2011. The medical records of 102 patients were retrieved, and the clinical presentation and outcome of PDA closure by surgical ligation or transarterial catheter occlusion (TCO) were reviewed. In the TCO group, the result of coiling was compared with the placement of an Amplatz Canine Duct Occluder (ACDO). A predisposition to PDA was found in the German Brak, Stabyhoun, and Schapendoes. Dogs treated with surgical ligation were significantly older and heavier than those treated with TCO; within the TCO group, dogs treated with ACDO were significantly older and heavier The initial success rate (complete disappearance of the audible murmur in a patient that survived the procedure) was not significantly different between the different treatment modalities. Major complications were more common with surgical ligation, but the incidence of minor complications was not significantly different. There was no diference in survival between dogs treated with surgical ligation and dogs treated with TCO. This study shows a previously unreported predisposition to PDA in certain breeds. Both surgical ligation and TCO are suitable techniques for PDA closure, although major complications were more common with surgical ligation. ACDO appears to be the method with the least complications and thus can be considered the safest method.

  11. Topography of Genetic Loci in Tissue Samples: Towards New Diagnostic Tool Using Interphase FISH and High-Resolution Image Analysis Techniques

    Directory of Open Access Journals (Sweden)

    I. Koutná

    2000-01-01

    Full Text Available Using single and dual colour fluorescence in situ hybridisation (FISH combined with image analysis techniques the topographic characteristics of genes and centromeres in nuclei of human colon tissue cells were investigated. The distributions of distances from the centre‐of‐nucleus to genes (centromeres and from genes to genes (centromeres to centromeres were studied in normal colon tissue cells found in the neighbourhood of tumour samples, in tumour cell line HT‐29 and in promyelocytic HL‐60 cell line for comparison. Our results show that the topography of genetic loci determined in 3D‐fixed cell tissue corresponds to that obtained for 2D‐fixed cells separated from the tissue. The distributions of the centre‐of‐nucleus to gene (centromere distances and gene to gene (centromere to centromere distances and their average values are different for various genetic loci but similar for normal colon tissue cells, HT‐29 colon tumour cell line and HL‐60 promyelocytic cell line. It suggests that the arrangement of genetic loci in cell nucleus is conserved in different types of human cells. The investigations of trisomic loci in HT‐29 cells revealed that the location of the third genetic element is not different from the location of two homologues in diploid cells. We have shown that the topographic parameters used in our experiments for different genetic elements are not tissue or tumour specific. In order to validate high‐resolution cytometry for oncology, further investigations should include more precise parameters reflecting the state of chromatin in the neighbourhood of critical oncogenes or tumour suppresser genes.

  12. 登革病毒感染的检测技术研究进展%Progresses on Diagnostic Techniques on Dengue Virus Infection

    Institute of Scientific and Technical Information of China (English)

    王艳红; 宝福凯; 柳爱华

    2013-01-01

    Dengue virus (DENV) is the pathogen of Dengue fever (DF), which is a major public health problem in tropical and sub-tropical regions and the most important arboviral disease of humans. In 2012, DF ranks as the most important mosquito-borne viral disease in the world. Fast and accurate diagnosis for DENV infection can effectively control the outbreak of DF and reduce death cases. Methods used for diagnosis of dengue infections include virus isolation, serology and molecular techniques. Each of three methods has its advantages and disadvantages, the suitable choice of methods in clinical practice should based on the clinical condition of patients.%登革病-毒(dengue virus,DENV)是引起登革热(denguefever,DF)的病原体,经蚊叮咬而传播疾病.DF主要流行于热带和亚热带地区.目前,DF已经发展成一个日益严重的全球性公共卫生问题.2012年,DF被列为全球最重要的蚊虫传播性疾病.快速而准确的针对DENV感染的检测技术能够有效地控制DF的爆发及减少死亡病例.目前DENV感染的检测技术主要有病毒分离培养、分子生物学诊断及血清学诊断三类,三类检测技术各有优缺点,应该根据具体情况选用适当的检测手段.

  13. Prenatal diagnosis of vasa previa.

    Science.gov (United States)

    Bręborowicz, Grzegorz H; Markwitz, Wiesław; Szpera-Goździewicz, Agata; Dera-Szymanowska, Anna; Ropacka-Lesiak, Mariola; Szymański, Piotr; Kubiaczyk-Paluch, Beata

    2015-01-01

    Vasa previa is a rare condition in which unsupported by the placenta, umbilical cord blood vessels runs within the placental membranes between internal os of the cervix and presenting part of the fetus. We report an antenatal diagnostic procedure and management of a patient with low-lying placenta and velamentous cord insertion near to the internal os with two large fetal blood vessels coursing between the internal cervical os and fetal presenting part. An elective cesarean section was performed at 36 weeks gestation.

  14. Prenatal care: associations with prenatal depressive symptoms and social support in low-income urban women.

    Science.gov (United States)

    Sidebottom, Abbey C; Hellerstedt, Wendy L; Harrison, Patricia A; Jones-Webb, Rhonda J

    2017-06-03

    We examined associations of depressive symptoms and social support with late and inadequate prenatal care in a low-income urban population. The sample was prenatal care patients at five community health centers. Measures of depressive symptoms, social support, and covariates were collected at prenatal care entry. Prenatal care entry and adequacy came from birth certificates. We examined outcomes of late prenatal care and less than adequate care in multivariable models. Among 2341 study participants, 16% had elevated depressive symptoms, 70% had moderate/poor social support, 21% had no/low partner support, 37% had late prenatal care, and 29% had less than adequate prenatal care. Women with both no/low partner support and elevated depressive symptoms were at highest risk of late care (AOR 1.85, CI 1.31, 2.60, p care (AOR 0.74, CI 0.54, 1.10, p = 0.051). Women with moderate/high depressive symptoms were less likely to experience less than adequate care compared to women with low symptoms (AOR 0.73, CI 0.56, 0.96, p = 0.022). Social support and partner support were negatively associated with indices of prenatal care use. Partner support was identified as protective for women with depressive symptoms with regard to late care. Study findings support public health initiatives focused on promoting models of care that address preconception and reproductive life planning. Practice-based implications include possible screening for social support and depression in preconception contexts.

  15. 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.

  16. BACs-on-Beads Technology: A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis

    Science.gov (United States)

    Martínez-Conejero, José Antonio; Serra, Vicente; Olmo, Inés; Lara, Coral; Simón, Carlos

    2014-01-01

    The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF) or chorionic villus (CV) samples based on BACs-on-Beads (BoBs) technology and to compare the results with classical karyotyping by Giemsa banding (G-banding) of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH) was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples. PMID:24795887

  17. BACs-on-Beads Technology: A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Sandra García-Herrero

    2014-01-01

    Full Text Available The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF or chorionic villus (CV samples based on BACs-on-Beads (BoBs technology and to compare the results with classical karyotyping by Giemsa banding (G-banding of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples.

  18. BACs-on-Beads technology: a reliable test for rapid detection of aneuploidies and microdeletions in prenatal diagnosis.

    Science.gov (United States)

    García-Herrero, Sandra; Campos-Galindo, Inmaculada; Martínez-Conejero, José Antonio; Serra, Vicente; Olmo, Inés; Lara, Coral; Simón, Carlos; Rubio, Carmen

    2014-01-01

    The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF) or chorionic villus (CV) samples based on BACs-on-Beads (BoBs) technology and to compare the results with classical karyotyping by Giemsa banding (G-banding) of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH) was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples.

  19. Developmental Programming: Prenatal and Postnatal Androgen Antagonist and Insulin Sensitizer Interventions Prevent Advancement of Puberty and Improve LH Surge Dynamics in Prenatal Testosterone-Treated Sheep

    OpenAIRE

    Padmanabhan, Vasantha; Veiga-Lopez, Almudena; Herkimer, Carol; Abi Salloum, Bachir; Moeller, Jacob; Beckett, Evan; Sreedharan, Rohit

    2015-01-01

    Prenatal T excess induces maternal hyperinsulinemia, early puberty, and reproductive/metabolic defects in the female similar to those seen in women with polycystic ovary syndrome. This study addressed the organizational/activational role of androgens and insulin in programming pubertal advancement and periovulatory LH surge defects. Treatment groups included the following: 1) control; 2) prenatal T; 3) prenatal T plus prenatal androgen antagonist, flutamide; 4) prenatal T plus prenatal insuli...

  20. Prenatal Antidepressants and Autism Spectrum Disorder

    Science.gov (United States)

    2014-09-01

    Autism Spectrum Disorder PRINCIPAL INVESTIGATOR...TYPE Annual 3. DATES COVERED 1Sept 2013-31Aug2014 4. TITLE AND SUBTITLE Prenatal Antidepressants and Autism Spectrum Disorder 5a...Approved for Public Release; Distribution Unlimited 13. SUPPLEMENTARY NOTES 14. ABSTRACT According to the CDC Autism Spectrum Disorder